G6PD (glucose-6-phosphate dehydrogenase) - Rat Genome Database

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Gene: G6PD (glucose-6-phosphate dehydrogenase) Homo sapiens
Analyze
Symbol: G6PD
Name: glucose-6-phosphate dehydrogenase
RGD ID: 736474
HGNC Page HGNC:4057
Description: Enables several functions, including glucose binding activity; glucose-6-phosphate dehydrogenase activity; and protein homodimerization activity. Involved in several processes, including erythrocyte maturation; negative regulation of protein glutathionylation; and pentose-phosphate shunt, oxidative branch. Located in several cellular components, including centriolar satellite; cytoplasmic side of plasma membrane; and cytosol. Implicated in several diseases, including anemia (multiple); cerebrovascular disease; favism; malaria (multiple); and neonatal jaundice. Biomarker of hepatocellular carcinoma; type 1 diabetes mellitus; and type 2 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: G6PD1; glucose-6-phosphate 1-dehydrogenase; glucose-6-phosphate dehydrogenase, G6PD
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X154,531,390 - 154,547,569 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX154,517,825 - 154,547,572 (-)EnsemblGRCh38hg38GRCh38
GRCh37X153,759,605 - 153,775,784 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X153,412,800 - 153,428,981 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X153,323,309 - 153,339,173NCBI
CeleraX153,920,654 - 153,936,836 (-)NCBICelera
Cytogenetic MapXq28NCBI
HuRefX142,336,102 - 142,352,295 (-)NCBIHuRef
CHM1_1X153,671,375 - 153,687,556 (-)NCBICHM1_1
T2T-CHM13v2.0X152,767,773 - 152,783,952 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acquired angioedema  (IAGP)
acute kidney failure  (EXP)
adrenoleukodystrophy  (IAGP)
ALAD-Deficiency Porphyria  (ISO)
anemia  (IAGP,IDA)
autistic disorder  (IAGP)
Barth syndrome  (IAGP)
Brain Injuries  (ISO)
cataract  (ISO)
cerebral creatine deficiency syndrome 1  (IAGP)
cerebrovascular disease  (IDA)
Chemical and Drug Induced Liver Injury  (ISO)
cholestasis  (ISO)
chronic granulomatous disease  (EXP)
congenital hemolytic anemia  (IAGP)
congenital hypothyroidism  (ISO)
congenital nonspherocytic hemolytic anemia  (EXP,IAGP)
contact dermatitis  (EXP)
diabetes mellitus  (IDA)
Diabetic Nephropathies  (ISO)
dyskeratosis congenita  (IAGP)
ectodermal dysplasia and immune deficiency  (IAGP)
ectodermal dysplasia and immunodeficiency 1  (IAGP)
Emery-Dreifuss muscular dystrophy  (IAGP)
Experimental Diabetes Mellitus  (ISO)
favism  (EXP,IAGP,ISS)
Fever  (IAGP)
genetic disease  (IAGP)
glucosephosphate dehydrogenase deficiency  (EXP,IAGP)
Hemolysis  (EXP,IAGP)
hemolytic anemia  (EXP,IAGP)
hepatic encephalopathy  (ISO)
hepatocellular carcinoma  (IEP,ISO)
Hypercholesterolemia  (ISO)
hyperhomocysteinemia  (ISO)
Hypertriglyceridemia  (ISO)
immunodeficiency 33  (IAGP)
Insulin Resistance  (ISO)
kidney disease  (ISO)
Liver Injury  (ISO)
malaria  (EXP,IAGP)
metabolic dysfunction-associated steatotic liver disease  (ISO)
Metabolic Syndrome  (ISO)
Multi-Infarct Dementia  (ISO)
myocardial infarction  (ISO)
Neonatal Hyperbilirubinemia  (IDA)
neonatal jaundice  (IAGP)
obesity  (ISO)
paraplegia  (IAGP)
periventricular nodular heterotopia  (IAGP)
phagocyte bactericidal dysfunction  (EXP)
phenylketonuria  (ISO)
Plasmodium falciparum malaria  (IAGP)
Pulmonary Hypertension, Hypoxia-Induced  (ISO)
renovascular hypertension  (ISO)
Reperfusion Injury  (ISO)
severe congenital encephalopathy due to MECP2 mutation  (IAGP)
Splenomegaly  (IAGP)
syndromic X-linked intellectual disability Lubs type  (IAGP)
Testicular Injury  (ISO)
transient cerebral ischemia  (ISO)
type 1 diabetes mellitus  (IEP)
type 2 diabetes mellitus  (IEP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-epicatechin-3-O-gallate  (EXP)
(+)-schisandrin B  (ISO)
(+)-taxifolin  (ISO)
(E)-cinnamyl alcohol  (EXP)
(R)-noradrenaline  (ISO)
(S)-naringenin  (EXP,ISO)
(S)-nicotine  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
1-methylphenanthrene  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
1H-pyrazole  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-tribromophenol  (EXP)
2,4-dinitrotoluene  (ISO)
2,5-dihydroxybenzoic acid  (EXP,ISO)
2-(4-hydroxyphenyl)ethanol  (ISO)
2-amino-2-deoxy-D-galactopyranose  (ISO)
2-hydroxypropanoic acid  (EXP)
2-tert-butylhydroquinone  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3,4-dihydroxybenzaldehyde  (EXP)
3,4-dihydroxybenzoic acid  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-methylglutaric acid  (ISO)
3-phenylprop-2-enal  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-amino-2,6-dinitrotoluene  (ISO)
4-chlorobiphenyl  (EXP)
4-hydroxynon-2-enal  (ISO)
4-hydroxyphenyl retinamide  (EXP)
5-formyltetrahydrofolic acid  (ISO)
5-methylphenazinium methyl sulfate  (EXP)
9-cis-retinoic acid  (EXP)
acetaldehyde  (ISO)
acetamide  (ISO)
acetylsalicylic acid  (EXP)
actinomycin D  (ISO)
aflatoxin B1  (EXP)
albuterol  (ISO)
all-trans-4-oxoretinoic acid  (EXP)
all-trans-retinoic acid  (EXP)
alpha-hexylcinnamaldehyde  (EXP)
aluminium atom  (EXP,ISO)
aluminium phosphide  (ISO)
aluminium(0)  (EXP,ISO)
amiodarone  (EXP,ISO)
ammonium chloride  (ISO)
amosite asbestos  (EXP)
androsterone  (ISO)
antimycin A  (EXP)
aristolochic acid A  (EXP)
arjunolic acid  (ISO)
Aroclor 1254  (ISO)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenite(3-)  (EXP)
arsenous acid  (EXP,ISO)
astaxanthin  (ISO)
atenolol  (ISO)
atrazine  (ISO)
Augmentin  (EXP)
azoxystrobin  (EXP)
Bandrowski's base  (EXP)
benzatropine  (EXP)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (EXP)
Benzo[k]fluoranthene  (ISO)
benzoic acid  (EXP)
Benzoyl peroxide  (ISO)
beta-hexachlorocyclohexane  (ISO)
beta-naphthoflavone  (EXP,ISO)
bezafibrate  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
bortezomib  (EXP)
bromobenzene  (ISO)
buspirone  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
cadmium nitrate  (ISO)
caffeine  (EXP)
calcitriol  (EXP)
Calphostin C  (ISO)
cannabidiol  (EXP)
carbaryl  (ISO)
carbon nanotube  (ISO)
carnosine  (EXP)
cefaloridine  (ISO)
chelerythrine  (ISO)
chlorite  (EXP)
chloroprene  (ISO)
chlorpromazine  (EXP,ISO)
chlorpyrifos  (ISO)
cinnamyl alcohol  (EXP)
ciprofloxacin  (EXP)
cis-caffeic acid  (EXP)
cisplatin  (EXP,ISO)
citronellol  (ISO)
clavulanic acid  (EXP)
clozapine  (EXP)
cobalt dichloride  (EXP,ISO)
cocaine  (ISO)
coenzyme Q10  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) chloride  (EXP)
crocidolite asbestos  (EXP)
cumene hydroperoxide  (ISO)
curcumin  (EXP,ISO)
cycloartenol  (ISO)
cycloheximide  (ISO)
cyclosporin A  (EXP,ISO)
cypermethrin  (ISO)
dapsone  (EXP)
DDT  (ISO)
decabromodiphenyl ether  (EXP)
deguelin  (EXP)
dehydroepiandrosterone  (ISO)
dexamethasone  (ISO)
Diallyl sulfide  (ISO)
Diallyltetrasulfane  (ISO)
diarsenic trioxide  (EXP,ISO)
diazinon  (ISO)
dibenz[a,h]anthracene  (EXP)
dibenzo[a,l]pyrene  (EXP)
dichloroacetic acid  (ISO)
dieldrin  (ISO)
diethyl maleate  (EXP,ISO)
digoxin  (ISO)
dihydroartemisinin  (EXP)
dimethoate  (ISO)
dioxygen  (ISO)
dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate  (EXP)
diquat  (EXP,ISO)
disulfiram  (EXP)
diuron  (ISO)
dobutamine  (ISO)
dopamine  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
ellagic acid  (EXP)
endosulfan  (ISO)
enzyme inhibitor  (EXP)
eugenol  (EXP)
fenoterol  (ISO)
fenpyroximate  (EXP)
fenvalerate  (ISO)
ferulic acid  (EXP)
fluoranthene  (EXP)
flutamide  (ISO)
fluvastatin  (ISO)
folic acid  (ISO)
fructose  (ISO)
fulvestrant  (EXP,ISO)
furan  (ISO)
furosemide  (ISO)
gallic acid  (ISO)
Gallopamil  (ISO)
gamma-hexachlorocyclohexane  (ISO)
Ganoderic acid A  (ISO)
genistein 7-O-beta-D-glucoside  (EXP)
gentamycin  (ISO)
geraniol  (ISO)
glafenine  (ISO)
gliclazide  (ISO)
glutaraldehyde  (EXP)
glutathione  (EXP,ISO)
Glutathione ethyl ester  (ISO)
glyburide  (ISO)
glycidyl methacrylate  (EXP)
glyoxylic acid  (ISO)
glyphosate  (ISO)
herbacetin  (ISO)
herbicide  (ISO)
hesperetin  (ISO)
hesperidin  (EXP,ISO)
Hexachloro-1,3-butadiene  (ISO)
hexane  (EXP)
hydrogen peroxide  (EXP,ISO)
hypochlorous acid  (EXP)
indometacin  (ISO)
inositol  (ISO)
iron trichloride  (ISO)
iron(III) nitrilotriacetate  (ISO)
isoeugenol  (EXP)
isoflavones  (EXP)
isoniazide  (EXP)
isoprenaline  (ISO)
isosorbide dinitrate  (EXP)
isotretinoin  (EXP,ISO)
ivermectin  (EXP)
ketoconazole  (EXP)
L-ascorbic acid  (ISO)
L-ascorbic acid 2-phosphate  (ISO)
L-glutamine  (ISO)
lead diacetate  (ISO)
lead nitrate  (ISO)
lovastatin  (ISO)
malathion  (ISO)
maneb  (ISO)
melatonin  (EXP,ISO)
mercury atom  (EXP)
mercury dichloride  (ISO)
mercury(0)  (EXP)
metformin  (ISO)
methapyrilene  (ISO)
methotrexate  (ISO)
methoxychlor  (ISO)
methyl salicylate  (EXP)
methylene blue  (EXP)
methylmercury chloride  (EXP)
metoprolol  (ISO)
monocrotophos  (ISO)
monosodium L-glutamate  (ISO)
myo-inositol hexakisphosphate  (ISO)
myricetin  (ISO)
N,N'-diphenyl-1,4-phenylenediamine  (ISO)
N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine  (EXP)
N-acetyl-L-cysteine  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosomorpholine  (ISO)
NADP zwitterion  (EXP,ISO)
NADP(+)  (EXP,ISO)
naringin  (ISO)
nickel dichloride  (ISO)
nickel sulfate  (EXP,ISO)
nicotinamide  (ISO)
nicotine  (ISO)
nitroprusside  (EXP)
Nonylphenol  (ISO)
norfenefrine  (ISO)
ochratoxin A  (EXP)
p-toluidine  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorononanoic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
phenytoin  (ISO)
phorbol 13-acetate 12-myristate  (ISO)
picoxystrobin  (EXP)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
potassium bromate  (ISO)
potassium chromate  (EXP,ISO)
potassium dichromate  (EXP,ISO)
prazosin  (ISO)
primaquine  (EXP)
promethazine  (ISO)
propan-2-ol  (EXP)
propetamphos  (ISO)
pyrroles  (EXP)
quartz  (ISO)
quercetin  (EXP,ISO)
quinalphos  (ISO)
quinolinic acid  (ISO)
rac-lactic acid  (EXP)
Rebamipide  (ISO)
resveratrol  (ISO)
rotenone  (EXP,ISO)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (ISO)
SB 431542  (EXP)
senecionine  (ISO)
serpentine asbestos  (EXP,ISO)
silibinin  (ISO)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
silver(1+) nitrate  (ISO)
sinapic acid  (EXP)
sodium arsenate  (EXP)
sodium arsenite  (EXP,ISO)
sodium chlorate  (ISO)
sodium dodecyl sulfate  (EXP)
sodium fluoride  (ISO)
sodium nitrate  (ISO)
sodium nitrite  (EXP)
streptozocin  (ISO)
sulforaphane  (EXP)
sunitinib  (EXP)
T-2 toxin  (ISO)
tadalafil  (ISO)
tamoxifen  (EXP,ISO)
taurine  (ISO)
terbutaline  (ISO)
tert-butyl hydroperoxide  (EXP,ISO)
testosterone  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (ISO)
thimerosal  (EXP)
thioacetamide  (ISO)
titanium dioxide  (EXP)
trans-caffeic acid  (EXP)
trans-isoeugenol  (EXP)
trans-piceid  (EXP)
trichloroethene  (ISO)
Triptolide  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
trovafloxacin  (ISO)
valproic acid  (EXP,ISO)
vanillin  (EXP)
vinclozolin  (ISO)
vitamin E  (ISO)
vorinostat  (EXP)
zearalenone  (ISO)
zinc atom  (ISO)
zinc dichloride  (ISO)
zinc sulfate  (EXP)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Protective effect of Satureja montana extract on cyclophosphamide-induced testicular injury in rats. Abd El Tawab AM, etal., Chem Biol Interact. 2014 Nov 11;224C:196-205. doi: 10.1016/j.cbi.2014.11.001.
2. Cardioprotective effects of aqueous extract of Oxalis corniculata in experimental myocardial infarction. Abhilash PA, etal., Exp Toxicol Pathol. 2011 Sep;63(6):535-40. doi: 10.1016/j.etp.2010.04.004. Epub 2010 May 11.
3. Oxidative stress and modification of synaptic proteins in hippocampus after traumatic brain injury. Ansari MA, etal., Free Radic Biol Med. 2008 Aug 15;45(4):443-52. Epub 2008 May 3.
4. Association of candidate gene polymorphisms and TGF-beta/IL-10 levels with malaria in three regions of Cameroon: a case-control study. Apinjoh TO, etal., Malar J. 2014 Jun 16;13:236. doi: 10.1186/1475-2875-13-236.
5. Hyperbaric oxygen preconditioning protects rats against CNS oxygen toxicity. Arieli Y, etal., Respir Physiol Neurobiol. 2014 Jun 15;197:29-35. doi: 10.1016/j.resp.2014.03.006. Epub 2014 Mar 24.
6. Adequate hemodialysis improves anemia by enhancing glucose-6-phosphate dehydrogenase activity in patients with end-stage renal disease. Ayesh Haj Yousef MH, etal., BMC Nephrol. 2014 Sep 26;15:155. doi: 10.1186/1471-2369-15-155.
7. DNA sequence abnormalities of human glucose-6-phosphate dehydrogenase variants. Beutler E, etal., J Biol Chem. 1991 Mar 5;266(7):4145-50.
8. The cellular fate of glucose and its relevance in type 2 diabetes. Bouche C, etal., Endocr Rev. 2004 Oct;25(5):807-30.
9. The pentose phosphate pathway in the endoplasmic reticulum. Bublitz C and Steavenson S, J Biol Chem. 1988 Sep 15;263(26):12849-53.
10. Prevalence of glucose-6-phosphate dehydrogenase deficiency and its association with Plasmodium falciparum infection among children in Iganga distric in Uganda. Bwayo D, etal., BMC Res Notes. 2014 Jun 18;7:372. doi: 10.1186/1756-0500-7-372.
11. Cimicifuga racemosa impairs fatty acid beta-oxidation and induces oxidative stress in livers of ovariectomized rats with renovascular hypertension. Campos LB, etal., Free Radic Biol Med. 2012 Aug 15;53(4):680-9. doi: 10.1016/j.freeradbiomed.2012.05.043. Epub 2012 Jun 7.
12. Congenital hypothyroidism alters the oxidative status, enzyme activities and morphological parameters in the hippocampus of developing rats. Cattani D, etal., Mol Cell Endocrinol. 2013 Aug 15;375(1-2):14-26. doi: 10.1016/j.mce.2013.05.001. Epub 2013 May 18.
13. Glucose-6-phosphate dehydrogenase plays a critical role in hypoxia-induced CD133+ progenitor cells self-renewal and stimulates their accumulation in the lungs of pulmonary hypertensive rats. Chettimada S, etal., Am J Physiol Lung Cell Mol Physiol. 2014 Oct 1;307(7):L545-56. doi: 10.1152/ajplung.00303.2013. Epub 2014 Jul 25.
14. Chronic hyperhomocysteinemia induces oxidative damage in the rat lung. da Cunha AA, etal., Mol Cell Biochem. 2011 Dec;358(1-2):153-60. doi: 10.1007/s11010-011-0930-2. Epub 2011 Jun 30.
15. Alterations of the redox state, pentose pathway and glutathione metabolism in an acute porphyria model. Their impact on heme pathway. Faut M, etal., Exp Biol Med (Maywood). 2013 Feb;238(2):133-43. doi: 10.1177/1535370212473702. Epub 2013 Feb 6.
16. Direct detection for G6PD Bangkok and G6PD Bangkok Noi mutations in the families with chronic nonspherocytic hemolytic anemia (CNSHA). Glomglao W, etal., Int J Lab Hematol. 2015 Apr;37(2):e21-4. doi: 10.1111/ijlh.12264. Epub 2014 Jun 13.
17. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
18. Synergistic activation of glucose-6-phosphate dehydrogenase and NAD(P)H oxidase by Src kinase elevates superoxide in type 2 diabetic, Zucker fa/fa, rat liver. Gupte RS, etal., Free Radic Biol Med. 2009 Feb 20.
19. Stobadine protects rat kidney against ischaemia/reperfusion injury. Guz G, etal., Clin Exp Pharmacol Physiol. 2007 Mar;34(3):210-6.
20. Dietary saponins of sea cucumber alleviate orotic acid-induced fatty liver in rats via PPARalpha and SREBP-1c signaling. Hu XQ, etal., Lipids Health Dis. 2010 Mar 9;9:25. doi: 10.1186/1476-511X-9-25.
21. The protective role of ellagitannins flavonoids pretreatment against N-nitrosodiethylamine induced-hepatocellular carcinoma. Hussein RH and Khalifa FK, Saudi J Biol Sci. 2014 Dec;21(6):589-96. doi: 10.1016/j.sjbs.2014.03.004. Epub 2014 Mar 31.
22. G6PD deficiency and absence of alpha-thalassemia increase the risk for cerebral vasculopathy in children with sickle cell anemia. Joly P, etal., Eur J Haematol. 2015 Jun 13. doi: 10.1111/ejh.12607.
23. Antihyperglycemic effect of 18 beta-glycyrrhetinic acid, aglycone of glycyrrhizin, on streptozotocin-diabetic rats. Kalaiarasi P and Pugalendi KV, Eur J Pharmacol. 2009 Mar 15;606(1-3):269-73. Epub 2009 Jan 21.
24. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
25. Protective effect of omega-3 polyunsaturated fatty acids (PUFAs) on sodium nitroprusside-induced nephrotoxicity and oxidative damage in rat kidney. Khan MW, etal., Hum Exp Toxicol. 2012 Oct;31(10):1035-49. doi: 10.1177/0960327112444475. Epub 2012 May 1.
26. Fenugreek seed extract inhibit fat accumulation and ameliorates dyslipidemia in high fat diet-induced obese rats. Kumar P, etal., Biomed Res Int. 2014;2014:606021. doi: 10.1155/2014/606021. Epub 2014 Apr 29.
27. Incidence, etiology, and outcomes of hazardous hyperbilirubinemia in newborns. Kuzniewicz MW, etal., Pediatrics. 2014 Sep;134(3):504-9. doi: 10.1542/peds.2014-0987. Epub 2014 Aug 4.
28. Glucose-6-phosphate dehydrogenase polymorphisms and susceptibility to mild malaria in Dogon and Fulani, Mali. Maiga B, etal., Malar J. 2014 Jul 11;13:270. doi: 10.1186/1475-2875-13-270.
29. Grape seed extract and zinc containing nutritional food supplement prevents onset and progression of age-related cataract in wistar rats. Mani Satyam S, etal., J Nutr Health Aging. 2014 May;18(5):524-30. doi: 10.1007/s12603-014-0020-8.
30. Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency in Greek newborns: the Mediterranean C563T mutation screening. Molou E, etal., Scand J Clin Lab Invest. 2014 Apr;74(3):259-63. doi: 10.3109/00365513.2013.879733. Epub 2014 Jan 24.
31. Glutathione metabolism enzymes in brain and liver of hyperphenylalaninemic rats and the effect of lipoic acid treatment. Moraes TB, etal., Metab Brain Dis. 2014 Sep;29(3):609-15. doi: 10.1007/s11011-014-9491-x. Epub 2014 Feb 2.
32. High prevalence of anaemia among African migrants in Germany persists after exclusion of iron deficiency and erythrocyte polymorphisms. Muller SA, etal., Trop Med Int Health. 2015 Sep;20(9):1180-1189. doi: 10.1111/tmi.12530. Epub 2015 May 21.
33. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
34. Online Mendelian Inheritance in Man, OMIM (TM). Online Mendelian Inheritance in Man, OMIM (TM).
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38. Hypolipidemic Effect of Celastrus paniculatus in Experimentally Induced Hypercholesterolemic Wistar Rats. Patil RH, etal., Indian J Clin Biochem. 2010 Oct;25(4):405-10. doi: 10.1007/s12291-010-0050-x. Epub 2010 Sep 14.
39. Spironolactone improves nephropathy by enhancing glucose-6-phosphate dehydrogenase activity and reducing oxidative stress in diabetic hypertensive rat. Pessoa BS, etal., J Renin Angiotensin Aldosterone Syst. 2012 Mar;13(1):56-66. doi: 10.1177/1470320311422581. Epub 2011 Oct 10.
40. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
41. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
42. Long-term effect of Trigonella foenum graecum and its combination with sodium orthovanadate in preventing histopathological and biochemical abnormalities in diabetic rat ocular tissues. Preet A, etal., Mol Cell Biochem. 2006 Sep;289(1-2):137-47. Epub 2006 May 23.
43. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
44. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
45. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
46. Dietary chia seed induced changes in hepatic transcription factors and their target lipogenic and oxidative enzyme activities in dyslipidaemic insulin-resistant rats. Rossi AS, etal., Br J Nutr. 2013 May;109(9):1617-27. doi: 10.1017/S0007114512003558. Epub 2012 Sep 5.
47. The antioxidant status during maturation of reticulocytes to erythrocytes in type 2 diabetics. Sailaja YR, etal., Free Radic Biol Med. 2003 Jul 15;35(2):133-9.
48. High frequency of diabetes and impaired fasting glucose in patients with glucose-6-phosphate dehydrogenase deficiency in the Western brazilian Amazon. Santana MS, etal., Am J Trop Med Hyg. 2014 Jul;91(1):74-6. doi: 10.4269/ajtmh.13-0032. Epub 2014 May 27.
49. Hypoglycaemic role of wheatgrass and its effect on carbohydrate metabolic enzymes in type II diabetic rats. Shakya G, etal., Toxicol Ind Health. 2014 Aug 12. pii: 0748233714545202.
50. Activation of neuronal nitric oxide synthase in cerebellum of chronic hepatic encephalopathy rats is associated with up-regulation of NADPH-producing pathway. Singh S and Trigun SK, Cerebellum. 2010 Sep;9(3):384-97. doi: 10.1007/s12311-010-0172-y.
51. G6PD A- deficiency and severe malaria in The Gambia: heterozygote advantage and possible homozygote disadvantage. Sirugo G, etal., Am J Trop Med Hyg. 2014 May;90(5):856-9. doi: 10.4269/ajtmh.13-0622. Epub 2014 Mar 10.
52. High prevalence of glucose-6-phosphate dehydrogenase deficiency without gene mutation suggests a novel genetic mechanism predisposing to ketosis-prone diabetes. Sobngwi E, etal., J Clin Endocrinol Metab. 2005 Aug;90(8):4446-51. Epub 2005 May 24.
53. Beneficial effects of modified egg* on oxidative stress in F1- generation of metabolic syndrome-X induced Wistar rat. Taneja SK and Singh KB, Indian J Exp Biol. 2009 Feb;47(2):104-12.
54. Activated glucose-6-phosphate dehydrogenase is associated with insulin resistance by upregulating pentose and pentosidine in diet-induced obesity of rats. Wang F, etal., Horm Metab Res. 2012 Dec;44(13):938-42. doi: 10.1055/s-0032-1323727. Epub 2012 Sep 26.
55. Comprehensive Molecular Analyses of a Macrophage-Related Gene Signature With Regard to Prognosis, Immune Features, and Biomarkers for Immunotherapy in Hepatocellular Carcinoma Based on WGCNA and the LASSO Algorithm. Wang T, etal., Front Immunol. 2022 May 27;13:843408. doi: 10.3389/fimmu.2022.843408. eCollection 2022.
56. Knockdown of glucose-6-phosphate dehydrogenase (G6PD) following cerebral ischemic reperfusion: the pros and cons. Zhao G, etal., Neurochem Int. 2012 Jul;61(2):146-55. doi: 10.1016/j.neuint.2012.05.003. Epub 2012 May 8.
57. Effects of acupuncture on glycometabolic enzymes in multi-infarct dementia rats. Zhao L, etal., Neurochem Res. 2011 May;36(5):693-700. doi: 10.1007/s11064-010-0378-x. Epub 2011 Jan 30.
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Additional References at PubMed
PMID:743300   PMID:1303180   PMID:1303182   PMID:1536798   PMID:1611091   PMID:1874446   PMID:1889820   PMID:1945893   PMID:2297768   PMID:2420826   PMID:2428611   PMID:2758468  
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Genomics

Comparative Map Data
G6PD
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X154,531,390 - 154,547,569 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX154,517,825 - 154,547,572 (-)EnsemblGRCh38hg38GRCh38
GRCh37X153,759,605 - 153,775,784 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X153,412,800 - 153,428,981 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X153,323,309 - 153,339,173NCBI
CeleraX153,920,654 - 153,936,836 (-)NCBICelera
Cytogenetic MapXq28NCBI
HuRefX142,336,102 - 142,352,295 (-)NCBIHuRef
CHM1_1X153,671,375 - 153,687,556 (-)NCBICHM1_1
T2T-CHM13v2.0X152,767,773 - 152,783,952 (-)NCBIT2T-CHM13v2.0
G6pdx
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X73,453,089 - 73,472,486 (-)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX73,453,089 - 73,472,800 (-)EnsemblGRCm39 Ensembl
GRCm38X74,409,483 - 74,428,880 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX74,409,483 - 74,429,194 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X71,654,825 - 71,674,500 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X70,662,206 - 70,681,881 (-)NCBIMGSCv36mm8
CeleraX65,663,679 - 65,683,364 (-)NCBICelera
Cytogenetic MapXA7.3NCBI
cM MapX38.0NCBI
G6pd
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X157,352,364 - 157,372,144 (-)NCBIGRCr8
mRatBN7.2X152,201,081 - 152,220,863 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX152,201,098 - 152,220,801 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX154,342,199 - 154,361,983 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X157,905,010 - 157,924,794 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X155,577,228 - 155,597,010 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X156,274,800 - 156,293,935 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX156,274,800 - 156,293,926 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01152,015,532 - 152,034,676 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X160,186,450 - 160,192,316 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1135,676,941 - 135,696,556 (+)NCBICelera
Cytogenetic MapXq37NCBI
G6pd
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555801,045,294 - 1,057,083 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555801,045,294 - 1,058,129 (-)NCBIChiLan1.0ChiLan1.0
G6PD
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X154,505,413 - 154,521,575 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X154,509,020 - 154,525,182 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X143,972,798 - 143,988,960 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X153,843,092 - 153,860,675 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX153,843,092 - 153,860,674 (-)Ensemblpanpan1.1panPan2
G6PD
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X122,217,317 - 122,231,862 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX122,205,683 - 122,231,678 (-)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0X125,358,989 - 125,373,645 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX125,346,698 - 125,373,679 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X121,127,964 - 121,142,608 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X123,643,041 - 123,657,679 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X123,404,813 - 123,419,460 (-)NCBIUU_Cfam_GSD_1.0
G6pd
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X119,532,130 - 119,548,019 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049368091,269,914 - 1,285,889 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049368091,269,900 - 1,285,853 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
G6PD
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX125,029,150 - 125,041,040 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X125,029,147 - 125,041,040 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X143,553,693 - 143,556,137 (+)NCBISscrofa10.2Sscrofa10.2susScr3
G6PD
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X128,768,028 - 128,788,366 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX128,770,268 - 128,786,961 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606566,762,820 - 66,779,827 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
G6pd
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624946986,107 - 1,001,955 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624946989,376 - 1,001,787 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in G6PD
645 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000402.4(G6PD):c.632A>T (p.Asp211Val) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000991016]|G6PD MALAGA [RCV000030892]|Malaria, susceptibility to [RCV003460496]|not provided [RCV000507037] ChrX:154534440 [GRCh38]
ChrX:153762655 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000178823]|Bone mineral density quantitative trait locus 18 [RCV000761430]|G6PD A+ [RCV000011073]|G6PD deficiency [RCV000307631]|G6PD deficiency [RCV001095678]|Inborn genetic diseases [RCV001267359]|Malaria, susceptibility to [RCV000477820]|not provided [RCV000079405]|not specified [RCV000999876] ChrX:154535277 [GRCh38]
ChrX:153763492 [GRCh37]
ChrX:Xq28		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|other|not provided
NM_000402.4(G6PD):c.944G>A (p.Arg315His) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002288482]|G6PD deficiency [RCV000011080]|Malaria, susceptibility to [RCV003460450] ChrX:154533586 [GRCh38]
ChrX:153761801 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic|benign|other
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000180546]|G6PD CHATHAM [RCV000011081]|Inborn genetic diseases [RCV000622381]|Malaria, susceptibility to [RCV000763202]|Malaria, susceptibility to [RCV003460451]|not provided [RCV000757321]|not specified [RCV001000058] ChrX:154532990 [GRCh38]
ChrX:153761205 [GRCh37]
ChrX:Xq28		 pathogenic|other
NM_000402.4(G6PD):c.556G>A (p.Glu186Lys) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000991017]|G6PD ILESHA [RCV000011082]|not provided [RCV002227031] ChrX:154535187 [GRCh38]
ChrX:153763402 [GRCh37]
ChrX:Xq28		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|other
NM_001360016.2(G6PD):c.1116G>A (p.Gln372=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001510602]|G6PD deficiency [RCV000011083]|not provided [RCV001540829]|not specified [RCV000079392] ChrX:154532738 [GRCh38]
ChrX:153760953 [GRCh37]
ChrX:Xq28		 benign|likely benign|other
NM_001360016.2(G6PD):c.1311= (p.Tyr437=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001519331]|G6PD deficiency [RCV000011084]|not provided [RCV001719694]|not specified [RCV000079394] ChrX:154532439 [GRCh38]
ChrX:153760654 [GRCh37]
ChrX:Xq28		 benign|likely benign|conflicting interpretations of pathogenicity|other
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000282708]|G6PD MAHIDOL [RCV000011085]|G6PD deficiency [RCV002298440]|Malaria, susceptibility to [RCV000763205]|Malaria, susceptibility to [RCV003466846]|not provided [RCV000657881]|not specified [RCV000507435] ChrX:154534495 [GRCh38]
ChrX:153762710 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic|other
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000179363]|Decreased glucose-6-phosphate dehydrogenase level in blood [RCV002227060]|G6PD CAGLIARI [RCV000011088]|G6PD MEDITERRANEAN [RCV000011086]|G6PD SASSARI [RCV000011087]|G6PD deficiency [RCV000445579]|G6PD deficient hemolytic anemia [RCV001250219]|G6PD-related condition [RCV003925095]|Hemolytic anemia, G6PD deficient (favism) [RCV001265539]|Inborn genetic diseases [RCV000623137]|Malaria, susceptibility to [RCV000477810]|Malaria, susceptibility to [RCV001528124]|Susceptibility to angioedema induced by ACE inhibitors [RCV000761429]|not provided [RCV000079409] ChrX:154534419 [GRCh38]
ChrX:153762634 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|other
NM_000402.4(G6PD):c.262G>A (p.Asp88Asn) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305426]|G6PD METAPONTO [RCV000011089] ChrX:154536032 [GRCh38]
ChrX:153764247 [GRCh37]
ChrX:Xq28		 pathogenic|other
NM_000402.4(G6PD):c.1268G>A (p.Arg423His) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000066231]|G6PD ANAHEIM [RCV000030891]|G6PD NASHVILLE [RCV000030890]|G6PD PORTICI [RCV000011090]|not provided [RCV003480028]|not specified [RCV000756196] ChrX:154532676 [GRCh38]
ChrX:153760891 [GRCh37]
ChrX:Xq28		 pathogenic|other
NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000066233]|G6PD SANTIAGO DE CUBA [RCV000011091]|Malaria, susceptibility to [RCV002496322]|not provided [RCV000790772] ChrX:154532411 [GRCh38]
ChrX:153760626 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic|other
NM_000402.4(G6PD):c.934G>C (p.Asp312His) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000180200]|G6PD MODENA [RCV000011093]|G6PD SEATTLE-LIKE [RCV000011092]|G6PD deficiency [RCV001166655]|G6PD-related condition [RCV003904827]|Malaria, susceptibility to [RCV000763204]|Malaria, susceptibility to [RCV003466847]|not provided [RCV000757322] ChrX:154533596 [GRCh38]
ChrX:153761811 [GRCh37]
ChrX:Xq28		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance|other
NM_000402.4(G6PD):c.738T>G (p.Phe246Leu) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305427]|G6PD HARILAOU [RCV000011094] ChrX:154534157 [GRCh38]
ChrX:153762372 [GRCh37]
ChrX:Xq28		 likely pathogenic|other
NM_001360016.2(G6PD):c.486-60C>G single nucleotide variant G6PD deficiency [RCV000011095]|not provided [RCV001642221] ChrX:154534556 [GRCh38]
ChrX:153762771 [GRCh37]
ChrX:Xq28		 pathogenic|benign|conflicting interpretations of pathogenicity|other
NM_000402.4(G6PD):c.1246A>G (p.Lys416Glu) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305428]|G6PD IOWA CITY [RCV000011097]|G6PD IOWA [RCV000011096]|G6PD SPRINGFIELD [RCV000011098]|G6PD WALTER REED [RCV000011099]|not provided [RCV000294855] ChrX:154532698 [GRCh38]
ChrX:153760913 [GRCh37]
ChrX:Xq28		 pathogenic|conflicting interpretations of pathogenicity|other
NM_000402.4(G6PD):c.1250G>A (p.Arg417His) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001857328]|G6PD BEVERLY HILLS [RCV000011100]|Malaria, susceptibility to [RCV003466848] ChrX:154532694 [GRCh38]
ChrX:153760909 [GRCh37]
ChrX:Xq28		 pathogenic|other
NM_000402.4(G6PD):c.1243T>C (p.Cys415Arg) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305429]|G6PD TOMAH [RCV000011101] ChrX:154532701 [GRCh38]
ChrX:153760916 [GRCh37]
ChrX:Xq28		 pathogenic|other
NM_000402.4(G6PD):c.1318G>T (p.Gly440Cys) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305430]|G6PD RIVERSIDE [RCV000011102] ChrX:154532626 [GRCh38]
ChrX:153760841 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic|other
NM_000402.4(G6PD):c.1451G>A (p.Arg484His) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305431]|G6PD ANDALUS [RCV000011103] ChrX:154532389 [GRCh38]
ChrX:153760604 [GRCh37]
ChrX:Xq28		 pathogenic|other
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000174272]|G6PD AGRIGENTO [RCV000011106]|G6PD CANTON [RCV000011104]|G6PD GIFU [RCV000011105]|G6PD TAIWAN-HAKKA [RCV000011107]|G6PD deficiency [RCV000375428]|Malaria, susceptibility to [RCV002498469]|Malaria, susceptibility to [RCV003460788]|not provided [RCV000756195] ChrX:154532269 [GRCh38]
ChrX:153760484 [GRCh37]
ChrX:Xq28		 pathogenic|other
NM_000402.4(G6PD):c.1192G>A (p.Glu398Lys) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000066246]|G6PD PUERTO LIMON [RCV000011108]|not provided [RCV003480029] ChrX:154532752 [GRCh38]
ChrX:153760967 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic|other
NM_000402.4(G6PD):c.727G>T (p.Val243Leu) single nucleotide variant Abnormal circulating glucose-6-phosphate dehydrogenase concentration [RCV002287328]|Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000066251]|G6PD GASTONIA [RCV000011110]|G6PD MARION [RCV000011111]|G6PD MINNESOTA [RCV000011112]|not provided [RCV000790819] ChrX:154534345 [GRCh38]
ChrX:153762560 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other
NM_000402.4(G6PD):c.1147C>T (p.Pro383Ser) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305433]|G6PD IERAPETRA [RCV000011115]|G6PD deficiency [RCV003323355] ChrX:154532797 [GRCh38]
ChrX:153761012 [GRCh37]
ChrX:Xq28		 pathogenic|other
NM_000402.4(G6PD):c.961G>A (p.Val321Met) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000180545]|G6PD JAMMU [RCV000011117]|G6PD VIANGCHAN [RCV000011116]|G6PD deficiency [RCV000405688]|G6PD deficient hemolytic anemia [RCV001250220]|Inborn genetic diseases [RCV001266092]|Malaria, susceptibility to [RCV000763203]|Malaria, susceptibility to [RCV003460452]|not provided [RCV000757320] ChrX:154533122 [GRCh38]
ChrX:153761337 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic|other
NM_001360016.2(G6PD):c.680G>T (p.Arg227Leu) single nucleotide variant G6PD deficiency [RCV000011118] ChrX:154534125 [GRCh38]
ChrX:153762340 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000818410]|G6PD deficiency [RCV000011119]|G6PD-related condition [RCV003934822]|Malaria, susceptibility to [RCV003460453]|not provided [RCV000757319] ChrX:154533025 [GRCh38]
ChrX:153761240 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000823393]|G6PD ANANT [RCV000011121]|G6PD DHON [RCV000011122]|G6PD KAIPING [RCV000011120]|G6PD PETRICH-LIKE [RCV000011123]|G6PD SAPPORO-LIKE [RCV000011124]|G6PD deficiency [RCV000991190]|Inborn genetic diseases [RCV001266661]|Malaria, susceptibility to [RCV000763201]|Malaria, susceptibility to [RCV003460789]|not provided [RCV000174271] ChrX:154532257 [GRCh38]
ChrX:153760472 [GRCh37]
ChrX:Xq28		 pathogenic|other
NM_000402.4(G6PD):c.1179C>A (p.Asn393Lys) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000066262]|G6PD LOMA LINDA [RCV000011125] ChrX:154532765 [GRCh38]
ChrX:153760980 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic|other
NM_000402.4(G6PD):c.682C>T (p.Arg228Cys) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000991015]|G6PD COIMBRA [RCV000011126]|Malaria, susceptibility to [RCV003460454] ChrX:154534390 [GRCh38]
ChrX:153762605 [GRCh37]
ChrX:Xq28		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance|other
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000818047]|G6PD TAIWAN-HAKKA 2 [RCV000011128]|Malaria, susceptibility to [RCV002504777]|Malaria, susceptibility to [RCV003460455]|not provided [RCV000723531]|not specified [RCV000508226] ChrX:154534489 [GRCh38]
ChrX:153762704 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic|other
NM_000402.4(G6PD):c.683G>C (p.Arg228Pro) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000011130]|G6PD SANTIAGO [RCV000011129] ChrX:154534389 [GRCh38]
ChrX:153762604 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic|other
NM_000402.4(G6PD):c.770G>A (p.Arg257Gln) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001851785]|G6PD MEXICO CITY [RCV000011131]|G6PD deficiency [RCV001168393]|not specified [RCV001000765] ChrX:154534125 [GRCh38]
ChrX:153762340 [GRCh37]
ChrX:Xq28		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance|other
NM_000402.4(G6PD):c.1249C>T (p.Arg417Cys) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000011133]|G6PD GUADALAJARA [RCV000011132] ChrX:154532695 [GRCh38]
ChrX:153760910 [GRCh37]
ChrX:Xq28		 pathogenic|other
NM_000402.4(G6PD):c.1270G>C (p.Val424Leu) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000011135]|G6PD ALHAMBRA [RCV000011134] ChrX:154532674 [GRCh38]
ChrX:153760889 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic|other
NM_000402.4(G6PD):c.1319G>A (p.Gly440Asp) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000011137]|G6PD JAPAN [RCV000011136] ChrX:154532625 [GRCh38]
ChrX:153760840 [GRCh37]
ChrX:Xq28		 pathogenic|other
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000011139]|G6PD PAWNEE [RCV000011138]|not provided [RCV000723442] ChrX:154532434 [GRCh38]
ChrX:153760649 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other
NM_001360016.2(G6PD):c.102CAT[2] (p.Ile36del) microsatellite Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000011141]|G6PD SUNDERLAND [RCV000011140]|not provided [RCV001810842] ChrX:154546046..154546048 [GRCh38]
ChrX:153774261..153774263 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic|uncertain significance|other
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV003225020]|Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000800624]|G6PD KALYAN [RCV000011144]|G6PD KERALA [RCV000011143]|G6PD KERALA-KALYAN [RCV000011142]|G6PD deficiency [RCV001563664]|Malaria, susceptibility to [RCV003466849]|not provided [RCV001815167] ChrX:154533044 [GRCh38]
ChrX:153761259 [GRCh37]
ChrX:Xq28		 pathogenic|conflicting interpretations of pathogenicity|other
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000704108]|G6PD AURES [RCV000011145]|G6PD deficiency [RCV001796957]|Malaria, susceptibility to [RCV002482854]|Malaria, susceptibility to [RCV003466850]|not provided [RCV000224890] ChrX:154536156 [GRCh38]
ChrX:153764371 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other
NM_000402.4(G6PD):c.185A>G (p.His62Arg) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000798781]|G6PD GAOHE [RCV000011146]|Inborn genetic diseases [RCV002512966]|Malaria, susceptibility to [RCV002496323]|Malaria, susceptibility to [RCV003460456] ChrX:154546061 [GRCh38]
ChrX:153774276 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other
NM_000402.4(G6PD):c.482G>T (p.Gly161Val) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000821638]|G6PD QUING YUAN [RCV000011147]|Malaria, susceptibility to [RCV002496324]|Malaria, susceptibility to [RCV003460457]|not provided [RCV001810843] ChrX:154535261 [GRCh38]
ChrX:153763476 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000991013]|G6PD MAHIDOL-LIKE [RCV000011148]|not provided [RCV000079389] ChrX:154532969 [GRCh38]
ChrX:153761184 [GRCh37]
ChrX:Xq28		 conflicting interpretations of pathogenicity|uncertain significance|other
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000699943]|G6PD ORISSA [RCV000011149]|G6PD deficiency [RCV003314551]|Malaria, susceptibility to [RCV003466851]|not provided [RCV001538639] ChrX:154536168 [GRCh38]
ChrX:153764383 [GRCh37]
ChrX:Xq28		 pathogenic|conflicting interpretations of pathogenicity|other
NM_000402.4(G6PD):c.607T>C (p.Phe203Leu) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001060931]|G6PD NANKANG [RCV000011150]|Malaria, susceptibility to [RCV003460458] ChrX:154534465 [GRCh38]
ChrX:153762680 [GRCh37]
ChrX:Xq28		 pathogenic|other
NM_000402.4(G6PD):c.1490C>G (p.Pro497Arg) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305435]|G6PD NEAPOLIS [RCV000011152] ChrX:154532245 [GRCh38]
ChrX:153760460 [GRCh37]
ChrX:Xq28		 likely pathogenic|other
NM_000402.4(G6PD):c.1172C>T (p.Ala391Val) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000143788]|G6PD SERRES [RCV000011153] ChrX:154532772 [GRCh38]
ChrX:153760987 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic|other
G6PD NARA deletion Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000143789]|not provided [RCV001509137] ChrX:154533013..154533036 [GRCh38]
ChrX:153761228..153761251 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other
NM_000402.4(G6PD):c.896G>A (p.Cys299Tyr) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000011156]|G6PD AVEIRO [RCV000011155] ChrX:154533634 [GRCh38]
ChrX:153761849 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic|other
NM_000402.4(G6PD):c.292G>A (p.Val98Met) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000079404]|G6PD ASAHI [RCV000011157]|G6PD deficiency [RCV000606259]|G6PD deficiency [RCV001095679]|Inborn genetic diseases [RCV001267358]|Malaria, susceptibility to [RCV003460495]|not provided [RCV000224469]|not specified [RCV000999820] ChrX:154536002 [GRCh38]
ChrX:153764217 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|drug response|uncertain significance|other|not provided
NM_000402.4(G6PD):c.1054T>C (p.Tyr352His) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000066276]|G6PD REHOVOT [RCV000011158] ChrX:154533029 [GRCh38]
ChrX:153761244 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic|other
NM_000402.4(G6PD):c.1532C>G (p.Pro511Arg) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305436]|G6PD SPLIT [RCV000011159] ChrX:154532203 [GRCh38]
ChrX:153760418 [GRCh37]
ChrX:Xq28		 likely pathogenic|other
NM_000402.4(G6PD):c.298T>C (p.Tyr100His) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001264782]|G6PD NAMORU [RCV000011160] ChrX:154535996 [GRCh38]
ChrX:153764211 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic|other
NM_000402.4(G6PD):c.683G>A (p.Arg228His) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000991014]|G6PD NILGIRI [RCV000011161] ChrX:154534389 [GRCh38]
ChrX:153762604 [GRCh37]
ChrX:Xq28		 pathogenic|other
G6PD Amsterdam deletion Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000066279] ChrX:Xq28 pathogenic|other
G6PD ZURICH single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305437]|G6PD ZURICH [RCV000011165] ChrX:154532464 [GRCh38]
ChrX:153760679 [GRCh37]
ChrX:Xq28		 pathogenic|other
G6PD VARNSDORF deletion Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305438]|G6PD VARNSDORF [RCV000011166] ChrX:Xq28 pathogenic|other
NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001212765]|G6PD COSENZA [RCV000011167]|G6PD deficiency [RCV000778152]|Malaria, susceptibility to [RCV003460459]|not provided [RCV000354491] ChrX:154532269 [GRCh38]
ChrX:153760484 [GRCh37]
ChrX:Xq28		 pathogenic|other
NM_001360016.2(G6PD):c.1131C>T (p.Ala377=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001450327] ChrX:154532723 [GRCh38]
ChrX:153760938 [GRCh37]
ChrX:Xq28		 likely benign
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq28(chrX:150036146-156022206)x3 copy number gain See cases [RCV000050946] ChrX:150036146..156022206 [GRCh38]
ChrX:149298619..155251871 [GRCh37]
ChrX:148955035..154905065 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq28(chrX:149989929-156022206)x3 copy number gain See cases [RCV000050657] ChrX:149989929..156022206 [GRCh38]
ChrX:149158160..155251871 [GRCh37]
ChrX:148908818..154905065 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] ChrX:145879711..156022206 [GRCh38]
ChrX:146715565..155251871 [GRCh37]
ChrX:144768921..154905065 [NCBI36]
ChrX:Xq27.3-28		 pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28		 pathogenic
GRCh38/hg38 Xq28(chrX:153296806-155699618)x1 copy number loss See cases [RCV000051750] ChrX:153296806..155699618 [GRCh38]
ChrX:152568327..154929279 [GRCh37]
ChrX:152215458..154582473 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28		 pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28		 pathogenic
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 copy number loss See cases [RCV000051732] ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28		 pathogenic
GRCh38/hg38 Xq28(chrX:154394598-154554969)x1 copy number loss See cases [RCV000051760] ChrX:154394598..154554969 [GRCh38]
ChrX:153622940..153783184 [GRCh37]
ChrX:153276134..153436378 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] ChrX:140445228..155998166 [GRCh38]
ChrX:139527393..155227831 [GRCh37]
ChrX:139355059..154881025 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq28(chrX:153932045-155611794)x3 copy number gain See cases [RCV000052529] ChrX:153932045..155611794 [GRCh38]
ChrX:152850692..154494649 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq28(chrX:152932818-156022206)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|See cases [RCV000052490] ChrX:152932818..156022206 [GRCh38]
ChrX:152173071..155251871 [GRCh37]
ChrX:151852018..154905065 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq28(chrX:153395425-155687381)x2 copy number gain See cases [RCV000052491] ChrX:153395425..155687381 [GRCh38]
ChrX:152314077..154570236 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 copy number gain See cases [RCV000052471] ChrX:140226495..155687381 [GRCh38]
ChrX:139308651..154917042 [GRCh37]
ChrX:139136317..154570236 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2 copy number gain See cases [RCV000052474] ChrX:140445228..154604471 [GRCh38]
ChrX:139527393..153832724 [GRCh37]
ChrX:139355059..153485918 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 copy number gain See cases [RCV000052475] ChrX:141160282..155699618 [GRCh38]
ChrX:140254480..154929279 [GRCh37]
ChrX:140082146..154582473 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq28(chrX:154336596-154642063)x2 copy number gain See cases [RCV000054320] ChrX:154336596..154642063 [GRCh38]
ChrX:153564946..153870337 [GRCh37]
ChrX:153218140..153523531 [NCBI36]
ChrX:Xq28		 uncertain significance
GRCh38/hg38 Xq28(chrX:154348522-154594454)x2 copy number gain See cases [RCV000054321] ChrX:154348522..154594454 [GRCh38]
ChrX:153576890..153822717 [GRCh37]
ChrX:153230084..153475911 [NCBI36]
ChrX:Xq28		 uncertain significance
GRCh38/hg38 Xq28(chrX:154394598-154626056)x2 copy number gain See cases [RCV000054322] ChrX:154394598..154626056 [GRCh38]
ChrX:153622940..153854307 [GRCh37]
ChrX:153276134..153507501 [NCBI36]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq28(chrX:153576750-154563104)x1 copy number loss See cases [RCV000663390] ChrX:153576750..154563104 [GRCh37]
ChrX:Xq28		 pathogenic
G6PD:c.1455-13T>C single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001514288]|G6PD deficiency [RCV000278583]|not provided [RCV001711227]|not specified [RCV000079397] ChrX:154532293 [GRCh38]
ChrX:153760508 [GRCh37]
ChrX:Xq28		 benign|likely benign
NM_001360016.2(G6PD):c.*47G>A single nucleotide variant not provided [RCV000079387] ChrX:154531953 [GRCh38]
ChrX:153760168 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.*50G>A single nucleotide variant not provided [RCV000079388] ChrX:154531950 [GRCh38]
ChrX:153760165 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.1037A>T (p.Asn346Ile) single nucleotide variant not provided [RCV000079390] ChrX:154532956 [GRCh38]
ChrX:153761171 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.1048G>C (p.Asp350His) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001500096]|G6PD deficiency [RCV001166654]|not provided [RCV000180548]|not specified [RCV002509203] ChrX:154532945 [GRCh38]
ChrX:153761160 [GRCh37]
ChrX:Xq28		 pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000402.4(G6PD):c.1206G>A (p.Gln402=) single nucleotide variant AllHighlyPenetrant [RCV000079392]|not specified [RCV000079392] ChrX:154532738 [GRCh38]
ChrX:153760953 [GRCh37]
ChrX:Xq28		 benign
NM_001360016.2(G6PD):c.121-46G>A single nucleotide variant not provided [RCV000079393] ChrX:154536224 [GRCh38]
ChrX:153764439 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_000402.4(G6PD):c.1401T= (p.Tyr467=) single nucleotide variant AllHighlyPenetrant [RCV000079394]|not specified [RCV000079394] ChrX:154532439 [GRCh38]
ChrX:153760654 [GRCh37]
ChrX:Xq28		 benign
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000174032]|G6PD deficiency [RCV000778894]|Malaria, susceptibility to [RCV002498397]|Malaria, susceptibility to [RCV003460746]|not provided [RCV000079396] ChrX:154532390 [GRCh38]
ChrX:153760605 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.1398C>T (p.Thr466=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001079368]|not provided [RCV000079400] ChrX:154532247 [GRCh38]
ChrX:153760462 [GRCh37]
ChrX:Xq28		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001360016.2(G6PD):c.1431C>T (p.Pro477=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000646702]|G6PD deficiency [RCV001169072]|G6PD-related condition [RCV003905048]|not provided [RCV001650905]|not specified [RCV000079401] ChrX:154532214 [GRCh38]
ChrX:153760429 [GRCh37]
ChrX:Xq28		 benign|likely benign
NM_001360016.2(G6PD):c.1457+34A>G single nucleotide variant not provided [RCV000079402] ChrX:154532154 [GRCh38]
ChrX:153760369 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.1458-13C>G single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001520546]|not provided [RCV000079403] ChrX:154532103 [GRCh38]
ChrX:153760318 [GRCh37]
ChrX:Xq28		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000799977]|G6PD deficiency [RCV000778895]|Malaria, susceptibility to [RCV003460747]|not provided [RCV000178824] ChrX:154535270 [GRCh38]
ChrX:153763485 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.545G>C (p.Arg182Pro) single nucleotide variant not provided [RCV000079408] ChrX:154534437 [GRCh38]
ChrX:153762652 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.675G>C (p.Trp225Cys) single nucleotide variant not provided [RCV000079411] ChrX:154534130 [GRCh38]
ChrX:153762345 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.771-3C>T single nucleotide variant not provided [RCV000079412] ChrX:154533672 [GRCh38]
ChrX:153761887 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.864+17A>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002055115]|not provided [RCV000079414] ChrX:154533559 [GRCh38]
ChrX:153761774 [GRCh37]
ChrX:Xq28		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001360016.2(G6PD):c.98T>C (p.Ile33Thr) single nucleotide variant not provided [RCV000175655] ChrX:154546058 [GRCh38]
ChrX:153774273 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.1288-14TC[2] microsatellite Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000646701]|G6PD deficiency [RCV000405814]|G6PD-related condition [RCV003917610]|not provided [RCV002260999]|not specified [RCV000174033] ChrX:154532471..154532472 [GRCh38]
ChrX:153760686..153760687 [GRCh37]
ChrX:Xq28		 benign|likely benign|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
NM_001360016.2(G6PD):c.769C>G (p.Arg257Gly) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001348562] ChrX:154534036 [GRCh38]
ChrX:153762251 [GRCh37]
ChrX:Xq28		 conflicting interpretations of pathogenicity|uncertain significance
NM_001360016.2(G6PD):c.1376del (p.Arg459fs) deletion Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305589]|not provided [RCV001812431] ChrX:154532269 [GRCh38]
ChrX:153760484 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.1365-13C>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305590]|not provided [RCV001810579] ChrX:154532293 [GRCh38]
ChrX:153760508 [GRCh37]
ChrX:Xq28		 benign
NM_001360016.2(G6PD):c.337G>T (p.Asp113Tyr) single nucleotide variant not provided [RCV001810613] ChrX:154535316 [GRCh38]
ChrX:153763531 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.1245C>T (p.Pro415=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001516128]|G6PD-related condition [RCV003965248]|not provided [RCV000173722] ChrX:154532609 [GRCh38]
ChrX:153760824 [GRCh37]
ChrX:Xq28		 benign|likely benign|uncertain significance
GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1 copy number loss See cases [RCV000133818] ChrX:139333024..155978689 [GRCh38]
ChrX:138415183..155208354 [GRCh37]
ChrX:138242849..154861548 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq27.3-28(chrX:144627217-155434735)x3 copy number gain See cases [RCV000133725] ChrX:144627217..155434735 [GRCh38]
ChrX:146715565..154664396 [GRCh37]
ChrX:143516380..154317590 [NCBI36]
ChrX:Xq27.3-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28		 pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28		 pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xq28(chrX:153296806-154604471)x2 copy number gain See cases [RCV000135451] ChrX:153296806..154604471 [GRCh38]
ChrX:152568327..153832724 [GRCh37]
ChrX:152215458..153485918 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140783390-155611114)x2 copy number gain See cases [RCV000135881] ChrX:140783390..155611114 [GRCh38]
ChrX:139865555..154785891 [GRCh37]
ChrX:139693221..154493969 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1 copy number loss See cases [RCV000136912] ChrX:141650284..156022206 [GRCh38]
ChrX:140738414..155251871 [GRCh37]
ChrX:140566080..154905065 [NCBI36]
ChrX:Xq27.2-28		 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xq28(chrX:153322656-155522304)x2 copy number gain See cases [RCV000136716] ChrX:153322656..155522304 [GRCh38]
ChrX:152864376..154751965 [GRCh37]
ChrX:152241308..154405159 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq28(chrX:151750863-155522304)x1 copy number loss See cases [RCV000136718] ChrX:151750863..155522304 [GRCh38]
ChrX:150919335..154751965 [GRCh37]
ChrX:150669991..154405159 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq28(chrX:153276277-156003242)x3 copy number gain See cases [RCV000137498] ChrX:153276277..156003242 [GRCh38]
ChrX:152465185..155232907 [GRCh37]
ChrX:152118379..154886101 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28		 pathogenic
GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1 copy number loss See cases [RCV000137257] ChrX:137118983..156003242 [GRCh38]
ChrX:136201142..155232907 [GRCh37]
ChrX:136028808..154886101 [NCBI36]
ChrX:Xq26.3-28		 pathogenic|uncertain significance
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28		 pathogenic|uncertain significance
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28		 pathogenic
GRCh38/hg38 Xq28(chrX:154544685-154548174)x3 copy number gain See cases [RCV000137869] ChrX:154544685..154548174 [GRCh38]
ChrX:153772900..153776389 [GRCh37]
ChrX:153426094..153429583 [NCBI36]
ChrX:Xq28		 uncertain significance
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28		 pathogenic
GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1 copy number loss See cases [RCV000138679] ChrX:143553831..156003229 [GRCh38]
ChrX:142641674..155232894 [GRCh37]
ChrX:142469340..154886088 [NCBI36]
ChrX:Xq27.3-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq28(chrX:153727116-154555423)x2 copy number gain See cases [RCV000138393] ChrX:153727116..154555423 [GRCh38]
ChrX:153333946..153783638 [GRCh37]
ChrX:152645765..153436832 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28		 pathogenic
GRCh38/hg38 Xq28(chrX:154539013-154545901)x2 copy number gain See cases [RCV000139452] ChrX:154539013..154545901 [GRCh38]
ChrX:153767227..153774116 [GRCh37]
ChrX:153420421..153427310 [NCBI36]
ChrX:Xq28		 uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28		 pathogenic|likely benign
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28		 pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq28(chrX:154348522-154770053)x2 copy number gain See cases [RCV000140492] ChrX:154348522..154770053 [GRCh38]
ChrX:153576890..153998328 [GRCh37]
ChrX:153230084..153651522 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1 copy number loss See cases [RCV000139724] ChrX:139530928..156003229 [GRCh38]
ChrX:138613087..155232894 [GRCh37]
ChrX:138440753..154886088 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28		 pathogenic
GRCh38/hg38 Xq28(chrX:154503086-154604471)x2 copy number gain See cases [RCV000141604] ChrX:154503086..154604471 [GRCh38]
ChrX:153731421..153832724 [GRCh37]
ChrX:153384615..153485918 [NCBI36]
ChrX:Xq28		 uncertain significance
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28		 pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28		 pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28		 pathogenic
GRCh38/hg38 Xq28(chrX:148951460-155434653)x2 copy number gain See cases [RCV000143002] ChrX:148951460..155434653 [GRCh38]
ChrX:148956425..154664314 [GRCh37]
ChrX:147840690..154317508 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28		 pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
NM_001360016.2(G6PD):c.486-14C>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002054131]|not provided [RCV000179365] ChrX:154534510 [GRCh38]
ChrX:153762725 [GRCh37]
ChrX:Xq28		 benign|uncertain significance
NM_001360016.2(G6PD):c.645-17C>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001523566]|not provided [RCV001812159]|not specified [RCV000179805] ChrX:154534177 [GRCh38]
ChrX:153762392 [GRCh37]
ChrX:Xq28		 benign|likely benign
NM_001360016.2(G6PD):c.865-16C>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002054150]|not provided [RCV000180544] ChrX:154533144 [GRCh38]
ChrX:153761359 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_001360016.2(G6PD):c.1311T>C (p.Tyr437=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000548711] ChrX:154532439 [GRCh38]
ChrX:153760654 [GRCh37]
ChrX:Xq28		 benign
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq28(chrX:153627408-154089925)x2 copy number gain See cases [RCV000240046] ChrX:153627408..154089925 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2 copy number gain See cases [RCV000240530] ChrX:142174780..155250222 [GRCh37]
ChrX:Xq27.3-28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_001360016.2(G6PD):c.*535G>T single nucleotide variant G6PD deficiency [RCV000270535] ChrX:154531465 [GRCh38]
ChrX:153759680 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001042351.2(G6PD):c.-111A>G single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305483]|G6PD deficiency [RCV000277086] ChrX:154547570 [GRCh38]
ChrX:153775785 [GRCh37]
ChrX:Xq28		 likely pathogenic|benign|likely benign
NM_001360016.2(G6PD):c.582C>G (p.Asp194Glu) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000963234]|G6PD deficiency [RCV000365598]|not provided [RCV001357685] ChrX:154534400 [GRCh38]
ChrX:153762615 [GRCh37]
ChrX:Xq28		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001360016.2(G6PD):c.*25C>T single nucleotide variant G6PD deficiency [RCV000318361] ChrX:154531975 [GRCh38]
ChrX:153760190 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.120+7A>C single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000872077]|G6PD deficiency [RCV000369276] ChrX:154546029 [GRCh38]
ChrX:153774244 [GRCh37]
ChrX:Xq28		 benign|uncertain significance
NM_001360016.2(G6PD):c.337G>A (p.Asp113Asn) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305477]|not provided [RCV000347245] ChrX:154535316 [GRCh38]
ChrX:153763531 [GRCh37]
ChrX:Xq28		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001360016.2(G6PD):c.771-11T>C single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003621528]|G6PD deficiency [RCV000308706] ChrX:154533680 [GRCh38]
ChrX:153761895 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_001360016.2(G6PD):c.1164C>T (p.Asn388=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001472059]|G6PD deficiency [RCV000286738] ChrX:154532690 [GRCh38]
ChrX:153760905 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_001360016.2(G6PD):c.*520G>A single nucleotide variant G6PD deficiency [RCV000332547]|not provided [RCV003437150] ChrX:154531480 [GRCh38]
ChrX:153759695 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_001360016.2(G6PD):c.1329C>T (p.Asp443=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002059264]|not provided [RCV000393327] ChrX:154532421 [GRCh38]
ChrX:153760636 [GRCh37]
ChrX:Xq28		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001360016.2(G6PD):c.*357= single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001514287]|G6PD deficiency [RCV000293823]|not provided [RCV001810871] ChrX:154531643 [GRCh38]
ChrX:153759858 [GRCh37]
ChrX:Xq28		 benign|likely benign
NM_001360016.2(G6PD):c.864+14C>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002523827]|G6PD deficiency [RCV000339377] ChrX:154533562 [GRCh38]
ChrX:153761777 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_001360016.2(G6PD):c.485+13G>A single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002523828]|G6PD deficiency [RCV000394108] ChrX:154535155 [GRCh38]
ChrX:153763370 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_001360016.2(G6PD):c.220C>G (p.Arg74Gly) single nucleotide variant not provided [RCV000298862] ChrX:154535984 [GRCh38]
ChrX:153764199 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.*365G>A single nucleotide variant G6PD deficiency [RCV000389406]|not provided [RCV003437151] ChrX:154531635 [GRCh38]
ChrX:153759850 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_001360016.2(G6PD):c.848A>T (p.Asp283Val) single nucleotide variant not provided [RCV000514766] ChrX:154533592 [GRCh38]
ChrX:153761807 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.1051+16G>A single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002532534]|not provided [RCV000596961] ChrX:154532926 [GRCh38]
ChrX:153761141 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_001360016.2(G6PD):c.120+9C>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001440890]|not provided [RCV000348652] ChrX:154546027 [GRCh38]
ChrX:153774242 [GRCh37]
ChrX:Xq28		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001360016.2(G6PD):c.305T>C (p.Phe102Ser) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305478]|not provided [RCV000285111] ChrX:154535348 [GRCh38]
ChrX:153763563 [GRCh37]
ChrX:Xq28		 likely pathogenic|uncertain significance
NM_001360016.2(G6PD):c.1365-5C>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003621527]|not provided [RCV000374327] ChrX:154532285 [GRCh38]
ChrX:153760500 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_001360016.2(G6PD):c.158+13C>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002532433]|not provided [RCV000592323] ChrX:154536128 [GRCh38]
ChrX:153764343 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_001360016.2(G6PD):c.1088A>T (p.Asn363Ile) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305516]|Inborn genetic diseases [RCV000623343] ChrX:154532766 [GRCh38]
ChrX:153760981 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_001360016.2(G6PD):c.1287+20C>T single nucleotide variant not provided [RCV000592940] ChrX:154532547 [GRCh38]
ChrX:153760762 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.209A>G (p.Tyr70Cys) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001857951]|not provided [RCV000521290] ChrX:154535995 [GRCh38]
ChrX:153764210 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_001360016.2(G6PD):c.448G>A (p.Val150Ile) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305526]|Familial hemolytic anemia [RCV000655924] ChrX:154535205 [GRCh38]
ChrX:153763420 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.120+3646C>T single nucleotide variant Immunodeficiency 33 [RCV000767994]|Immunodeficiency 33 [RCV003224412] ChrX:154542390 [GRCh38]
ChrX:153770605 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.1096A>G (p.Lys366Glu) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305484]|Hemolytic anemia [RCV000414805] ChrX:154532758 [GRCh38]
ChrX:153760973 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.490T>C (p.Trp164Arg) single nucleotide variant not specified [RCV001002158] ChrX:154534492 [GRCh38]
ChrX:153762707 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq28(chrX:152228560-154930047)x2 copy number gain See cases [RCV000447331] ChrX:152228560..154930047 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28		 pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq28(chrX:150253008-155233731)x1 copy number loss See cases [RCV000446761] ChrX:150253008..155233731 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1 copy number loss See cases [RCV000448865] ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28		 pathogenic
GRCh37/hg19 Xq28(chrX:151201777-154741703)x2 copy number gain See cases [RCV000510478] ChrX:151201777..154741703 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
NM_001360016.2(G6PD):c.1318C>T (p.Leu440Phe) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305498]|not specified [RCV000505954] ChrX:154532432 [GRCh38]
ChrX:153760647 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28		 pathogenic|uncertain significance
NM_001360016.2(G6PD):c.1405C>T (p.Leu469=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002060171]|not specified [RCV000506495] ChrX:154532240 [GRCh38]
ChrX:153760455 [GRCh37]
ChrX:Xq28		 likely benign
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28		 pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28		 pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
NM_001360016.2(G6PD):c.486-34del deletion Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001510340]|not provided [RCV001683537]|not specified [RCV000507442] ChrX:154534530 [GRCh38]
ChrX:153762745 [GRCh37]
ChrX:Xq28		 benign|conflicting interpretations of pathogenicity
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1 copy number loss See cases [RCV000511228] ChrX:146232592..155233731 [GRCh37]
ChrX:Xq27.3-28		 pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xq28(chrX:151963528-155233731)x1 copy number loss See cases [RCV000510866] ChrX:151963528..155233731 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq28(chrX:151311551-155233731)x1 copy number loss See cases [RCV000510920] ChrX:151311551..155233731 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28		 pathogenic
NC_000023.10:g.(?_153295726)_(153786885_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000645139] ChrX:153295726..153786885 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.1187C>T (p.Pro396Leu) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000540637] ChrX:154532667 [GRCh38]
ChrX:153760882 [GRCh37]
ChrX:Xq28		 conflicting interpretations of pathogenicity|uncertain significance
NM_001360016.2(G6PD):c.120+3754C>T single nucleotide variant Inborn genetic diseases [RCV000622828]|not provided [RCV000659189] ChrX:154542282 [GRCh38]
ChrX:153770497 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28		 pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 copy number loss not provided [RCV000684401] ChrX:139504488..155233731 [GRCh37]
ChrX:Xq27.1-28		 pathogenic
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 copy number gain not provided [RCV000684402] ChrX:140388077..155233731 [GRCh37]
ChrX:Xq27.2-28		 pathogenic
GRCh37/hg19 Xq28(chrX:153581543-153858492)x2 copy number gain not provided [RCV000684413] ChrX:153581543..153858492 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq28(chrX:153621005-153868484)x4 copy number gain not provided [RCV000684414] ChrX:153621005..153868484 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq28(chrX:153723127-153792604)x1 copy number loss not provided [RCV000684415] ChrX:153723127..153792604 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 copy number loss not provided [RCV000684397] ChrX:138331745..155233731 [GRCh37]
ChrX:Xq27.1-28		 pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28		 pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28		 pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28		 pathogenic
GRCh37/hg19 Xq28(chrX:153749360-155233731)x3 copy number gain not provided [RCV000684416] ChrX:153749360..155233731 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq28(chrX:153560741-153761134)x2 copy number gain not provided [RCV000684744] ChrX:153560741..153761134 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq28(chrX:153560741-153858492)x2,3 copy number gain not provided [RCV000684745] ChrX:153560741..153858492 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.193A>G (p.Thr65Ala) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000688144] ChrX:154536011 [GRCh38]
ChrX:153764226 [GRCh37]
ChrX:Xq28		 conflicting interpretations of pathogenicity|uncertain significance
NM_001360016.2(G6PD):c.486-29G>T single nucleotide variant not specified [RCV001002483] ChrX:154534525 [GRCh38]
ChrX:153762740 [GRCh37]
ChrX:Xq28		 benign
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 copy number loss not provided [RCV000753810] ChrX:138750575..155246749 [GRCh37]
ChrX:Xq27.1-28		 pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1 copy number loss not provided [RCV000753815] ChrX:139504958..155254881 [GRCh37]
ChrX:Xq27.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
Single allele duplication Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
NM_001360016.2(G6PD):c.1278C>G (p.Asn426Lys) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003621594]|not provided [RCV001810616] ChrX:154532576 [GRCh38]
ChrX:153760791 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.121-270G>A single nucleotide variant not provided [RCV001691838] ChrX:154536448 [GRCh38]
ChrX:153764663 [GRCh37]
ChrX:Xq28		 benign
NM_001360016.2(G6PD):c.1192G>A (p.Glu398Lys) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000991012] ChrX:154532662 [GRCh38]
ChrX:153760877 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.889G>A (p.Glu297Lys) single nucleotide variant not provided [RCV000756194] ChrX:154533104 [GRCh38]
ChrX:153761319 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.655A>G (p.Arg219Gly) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003455814] ChrX:154534150 [GRCh38]
ChrX:153762365 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.1065C>T (p.Ile355=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002066067] ChrX:154532789 [GRCh38]
ChrX:153761004 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.311G>A (p.Arg104His) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000937220]|G6PD-related condition [RCV003913169] ChrX:154535342 [GRCh38]
ChrX:153763557 [GRCh37]
ChrX:Xq28		 benign|likely benign
NM_001360016.2(G6PD):c.645-8_645-5del microsatellite Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001517141]|G6PD-related condition [RCV003936235] ChrX:154534165..154534168 [GRCh38]
ChrX:153762380..153762383 [GRCh37]
ChrX:Xq28		 benign|likely benign
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28		 pathogenic
GRCh37/hg19 Xq28(chrX:153761240-155227607) copy number loss not provided [RCV000767811] ChrX:153761240..155227607 [GRCh37]
ChrX:Xq28		 likely pathogenic
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28		 pathogenic
NM_001360016.2(G6PD):c.1209G>A (p.Lys403=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000884862] ChrX:154532645 [GRCh38]
ChrX:153760860 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1052-4G>A single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000967163] ChrX:154532806 [GRCh38]
ChrX:153761021 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1240A>C (p.Asn414His) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000983876]|G6PD deficiency [RCV001166651]|G6PD-related condition [RCV003898003] ChrX:154532614 [GRCh38]
ChrX:153760829 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_001360016.2(G6PD):c.477G>C (p.Met159Ile) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000876619]|not provided [RCV001573886] ChrX:154535176 [GRCh38]
ChrX:153763391 [GRCh37]
ChrX:Xq28		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1 copy number loss See cases [RCV002285075] ChrX:77670699..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xq28(chrX:152372767-155233731) copy number gain Chromosome Xq28 duplication syndrome [RCV002280621]|Syndromic X-linked intellectual disability Lubs type [RCV002280620] ChrX:152372767..155233731 [GRCh37]
ChrX:Xq28		 pathogenic
NC_000023.10:g.(?_152954020)_(154096327_?)del deletion Adrenoleukodystrophy [RCV000815921] ChrX:152954020..154096327 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_001360016.2(G6PD):c.813G>A (p.Val271=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001055244] ChrX:154533627 [GRCh38]
ChrX:153761842 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_001360016.2(G6PD):c.864+5G>A single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000812136] ChrX:154533571 [GRCh38]
ChrX:153761786 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.660C>G (p.Ile220Met) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000797585] ChrX:154534145 [GRCh38]
ChrX:153762360 [GRCh37]
ChrX:Xq28		 conflicting interpretations of pathogenicity|uncertain significance
NM_001360016.2(G6PD):c.*548C>T single nucleotide variant G6PD deficiency [RCV001168332] ChrX:154531452 [GRCh38]
ChrX:153759667 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.*466C>G single nucleotide variant G6PD deficiency [RCV001168333] ChrX:154531534 [GRCh38]
ChrX:153759749 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.690C>T (p.Ile230=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000873098]|not specified [RCV003330982] ChrX:154534115 [GRCh38]
ChrX:153762330 [GRCh37]
ChrX:Xq28		 benign|likely benign
NM_001360016.2(G6PD):c.1243C>T (p.Pro415Ser) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000805154] ChrX:154532611 [GRCh38]
ChrX:153760826 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.297G>A (p.Glu99=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002559616]|G6PD deficiency [RCV001168395] ChrX:154535356 [GRCh38]
ChrX:153763571 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_001360016.2(G6PD):c.*281C>T single nucleotide variant G6PD deficiency [RCV001169069] ChrX:154531719 [GRCh38]
ChrX:153759934 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.88G>T (p.Asp30Tyr) single nucleotide variant G6PD deficiency [RCV001169145] ChrX:154546068 [GRCh38]
ChrX:153774283 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001042351.3(G6PD):c.-9+14C>G single nucleotide variant G6PD deficiency [RCV001169146] ChrX:154547454 [GRCh38]
ChrX:153775669 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xq28(chrX:153556428-153868487)x2 copy number gain not provided [RCV000845970] ChrX:153556428..153868487 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28		 pathogenic
NM_001360016.2(G6PD):c.404A>C (p.Asn135Thr) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001059211]|Malaria, susceptibility to [RCV003467799]|not provided [RCV001091837] ChrX:154535249 [GRCh38]
ChrX:153763464 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq28(chrX:153609873-153815499)x3 copy number gain not provided [RCV000847592] ChrX:153609873..153815499 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.775G>A (p.Val259Met) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001219879] ChrX:154533665 [GRCh38]
ChrX:153761880 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28		 uncertain significance
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28		 pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28		 pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28		 pathogenic
NM_001360016.2(G6PD):c.*75C>T single nucleotide variant G6PD deficiency [RCV001169070] ChrX:154531925 [GRCh38]
ChrX:153760140 [GRCh37]
ChrX:Xq28		 uncertain significance
NC_000023.10:g.(?_152014869)_(154563736_?)del deletion Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003122393]|Dyskeratosis congenita [RCV003105406]|not provided [RCV003105407] ChrX:152014869..154563736 [GRCh37]
ChrX:Xq28		 pathogenic|uncertain significance|no classifications from unflagged records
NM_001360016.2(G6PD):c.34G>A (p.Val12Met) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003114923] ChrX:154546122 [GRCh38]
ChrX:153774337 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.1388G>T (p.Arg463Leu) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003231065] ChrX:154532257 [GRCh38]
ChrX:153760472 [GRCh37]
ChrX:Xq28		 pathogenic
NC_000023.10:g.(?_153585782)_(153775961_?)dup duplication Heterotopia, periventricular, X-linked dominant [RCV003107407] ChrX:153585782..153775961 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq28(chrX:153263517-155260560)x2 copy number gain Intellectual disability [RCV001638056] ChrX:153263517..155260560 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.120+199del deletion not provided [RCV001569780] ChrX:154545837 [GRCh38]
ChrX:153774052 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.519C>T (p.Phe173=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000887175]|not provided [RCV001811535] ChrX:154534463 [GRCh38]
ChrX:153762678 [GRCh37]
ChrX:Xq28		 benign|likely benign
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28		 likely pathogenic
NM_001360016.2(G6PD):c.375G>C (p.Met125Ile) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001466632] ChrX:154535278 [GRCh38]
ChrX:153763493 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.383T>G (p.Leu128Arg) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001244181]|Malaria, susceptibility to [RCV003462821]|not provided [RCV003222271] ChrX:154535270 [GRCh38]
ChrX:153763485 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic|uncertain significance
NM_001360016.2(G6PD):c.1361G>C (p.Arg454Pro) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305616]|not provided [RCV001562459] ChrX:154532389 [GRCh38]
ChrX:153760604 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_001360016.2(G6PD):c.1378G>T (p.Glu460Ter) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000991011] ChrX:154532267 [GRCh38]
ChrX:153760482 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) copy number gain Klinefelter syndrome [RCV003236730] ChrX:200855..155240074 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_001360016.2(G6PD):c.*66GGA[1] microsatellite not provided [RCV001621659] ChrX:154531929..154531931 [GRCh38]
ChrX:153760144..153760146 [GRCh37]
ChrX:Xq28		 benign
NM_001360016.2(G6PD):c.864+163C>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305620]|not provided [RCV001677881] ChrX:154533413 [GRCh38]
ChrX:153761628 [GRCh37]
ChrX:Xq28		 benign
NM_001360016.2(G6PD):c.120+199dup duplication Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305619]|not provided [RCV001656135] ChrX:154545836..154545837 [GRCh38]
ChrX:153774051..153774052 [GRCh37]
ChrX:Xq28		 benign
NM_001042351.3(G6PD):c.-9+340= single nucleotide variant not provided [RCV001635678] ChrX:154547128 [GRCh38]
ChrX:153775343 [GRCh37]
ChrX:Xq28		 benign
NM_001360016.2(G6PD):c.1021G>A (p.Val341Ile) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001230731]|not specified [RCV001000713] ChrX:154532972 [GRCh38]
ChrX:153761187 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.120+3617T>C single nucleotide variant IKBKG-related condition [RCV003962988]|not provided [RCV003438650]|not specified [RCV001001330] ChrX:154542419 [GRCh38]
ChrX:153770634 [GRCh37]
ChrX:Xq28		 benign|likely benign
NM_001360016.2(G6PD):c.815C>T (p.Ala272Val) single nucleotide variant not specified [RCV001002423] ChrX:154533625 [GRCh38]
ChrX:153761840 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.1480G>A (p.Glu494Lys) single nucleotide variant G6PD deficiency [RCV001169071] ChrX:154532068 [GRCh38]
ChrX:153760283 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.1287+3G>C single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001873562]|G6PD deficiency [RCV001169073]|G6PD-related condition [RCV003898165] ChrX:154532564 [GRCh38]
ChrX:153760779 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_001360016.2(G6PD):c.1152G>C (p.Gln384His) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001858909]|not specified [RCV001000681] ChrX:154532702 [GRCh38]
ChrX:153760917 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.-9+7G>C single nucleotide variant not provided [RCV002227239] ChrX:154546782 [GRCh38]
ChrX:153774997 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_001360016.2(G6PD):c.120+235G>A single nucleotide variant not provided [RCV001614210] ChrX:154545801 [GRCh38]
ChrX:153774016 [GRCh37]
ChrX:Xq28		 benign
NM_001042351.3(G6PD):c.-9+323= single nucleotide variant not provided [RCV001695630] ChrX:154547145 [GRCh38]
ChrX:153775360 [GRCh37]
ChrX:Xq28		 benign
NM_001360016.2(G6PD):c.121-135A>G single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305618]|not provided [RCV001612275] ChrX:154536313 [GRCh38]
ChrX:153764528 [GRCh37]
ChrX:Xq28		 benign
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_001360016.2(G6PD):c.1315C>T (p.Arg439Cys) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305617]|Malaria, susceptibility to [RCV001574070] ChrX:154532435 [GRCh38]
ChrX:153760650 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_001360016.2(G6PD):c.1101C>T (p.Ala367=) single nucleotide variant G6PD deficiency [RCV001166652] ChrX:154532753 [GRCh38]
ChrX:153760968 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.1347G>C (p.Gln449His) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001231280]|Malaria, susceptibility to [RCV003462786] ChrX:154532403 [GRCh38]
ChrX:153760618 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_001360016.2(G6PD):c.1465C>T (p.Pro489Ser) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305556]|not specified [RCV001000724] ChrX:154532083 [GRCh38]
ChrX:153760298 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.*599C>T single nucleotide variant G6PD deficiency [RCV001168331] ChrX:154531401 [GRCh38]
ChrX:153759616 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.750C>T (p.Phe250=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001431528]|G6PD deficiency [RCV001168392] ChrX:154534055 [GRCh38]
ChrX:153762270 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_001042351.3(G6PD):c.-23G>A single nucleotide variant G6PD deficiency [RCV001169147] ChrX:154547482 [GRCh38]
ChrX:153775697 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.697G>A (p.Val233Ile) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001037013]|not provided [RCV001772215] ChrX:154534108 [GRCh38]
ChrX:153762323 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.645-12C>T single nucleotide variant G6PD deficiency [RCV001168394] ChrX:154534172 [GRCh38]
ChrX:153762387 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28		 likely pathogenic
NM_001360016.2(G6PD):c.1051+15C>A single nucleotide variant G6PD deficiency [RCV001166653] ChrX:154532927 [GRCh38]
ChrX:153761142 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.859G>A (p.Glu287Lys) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001257425] ChrX:154533581 [GRCh38]
ChrX:153761796 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_001360016.2(G6PD):c.1187C>G (p.Pro396Arg) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305587]|not provided [RCV001268349] ChrX:154532667 [GRCh38]
ChrX:153760882 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_001360016.2(G6PD):c.1089C>G (p.Asn363Lys) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305586]|Inborn genetic diseases [RCV001267397] ChrX:154532765 [GRCh38]
ChrX:153760980 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_001360016.2(G6PD):c.754G>A (p.Glu252Lys) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001871674]|not provided [RCV001812421] ChrX:154534051 [GRCh38]
ChrX:153762266 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.1457+31C>G single nucleotide variant not provided [RCV001810678] ChrX:154532157 [GRCh38]
ChrX:153760372 [GRCh37]
ChrX:Xq28		 likely benign
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
NM_001360016.2(G6PD):c.973G>A (p.Asp325Asn) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001312937] ChrX:154533020 [GRCh38]
ChrX:153761235 [GRCh37]
ChrX:Xq28		 conflicting interpretations of pathogenicity|uncertain significance
NM_001360016.2(G6PD):c.1068G>A (p.Leu356=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001434137] ChrX:154532786 [GRCh38]
ChrX:153761001 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.645-7C>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001395411] ChrX:154534167 [GRCh38]
ChrX:153762382 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1290C>T (p.Asn430=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001414539] ChrX:154532460 [GRCh38]
ChrX:153760675 [GRCh37]
ChrX:Xq28		 likely benign
NC_000023.10:g.(?_153760215)_(153775961_?)dup duplication Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001351092] ChrX:153760215..153775961 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
NM_001360016.2(G6PD):c.972C>T (p.Asp324=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001413454] ChrX:154533021 [GRCh38]
ChrX:153761236 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1467C>A (p.Pro489=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001395496] ChrX:154532081 [GRCh38]
ChrX:153760296 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1014A>G (p.Ala338=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001494458] ChrX:154532979 [GRCh38]
ChrX:153761194 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.829G>T (p.Ala277Ser) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001313486]|not provided [RCV003481065] ChrX:154533611 [GRCh38]
ChrX:153761826 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.1452T>C (p.Tyr484=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001413155] ChrX:154532193 [GRCh38]
ChrX:153760408 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.435C>T (p.Thr145=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001506319] ChrX:154535218 [GRCh38]
ChrX:153763433 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1084C>T (p.Leu362=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001485398] ChrX:154532770 [GRCh38]
ChrX:153760985 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.864+10G>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001491632] ChrX:154533566 [GRCh38]
ChrX:153761781 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.957C>T (p.Thr319=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001397901]|G6PD-related condition [RCV003953715]|not provided [RCV003738061] ChrX:154533036 [GRCh38]
ChrX:153761251 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1113G>A (p.Leu371=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001470324] ChrX:154532741 [GRCh38]
ChrX:153760956 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1191C>T (p.Asn397=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001489675] ChrX:154532663 [GRCh38]
ChrX:153760878 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.120+7A>G single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001461092] ChrX:154546029 [GRCh38]
ChrX:153774244 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.423C>G (p.Ala141=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001398508] ChrX:154535230 [GRCh38]
ChrX:153763445 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.865-5C>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001471236] ChrX:154533133 [GRCh38]
ChrX:153761348 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.696C>T (p.Cys232=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001446332] ChrX:154534109 [GRCh38]
ChrX:153762324 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1203C>T (p.Tyr401=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001407466] ChrX:154532651 [GRCh38]
ChrX:153760866 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1177C>T (p.Arg393Cys) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001377911] ChrX:154532677 [GRCh38]
ChrX:153760892 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.774C>T (p.Asp258=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001425617] ChrX:154533666 [GRCh38]
ChrX:153761881 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.359G>A (p.Arg120His) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001418314] ChrX:154535294 [GRCh38]
ChrX:153763509 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1017C>T (p.Ala339=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001401225] ChrX:154532976 [GRCh38]
ChrX:153761191 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.644+9A>C single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001444622] ChrX:154534329 [GRCh38]
ChrX:153762544 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1004C>A (p.Ala335Asp) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001379702]|Malaria, susceptibility to [RCV003469642] ChrX:154532989 [GRCh38]
ChrX:153761204 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_001360016.2(G6PD):c.1470G>A (p.Thr490=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001442742] ChrX:154532078 [GRCh38]
ChrX:153760293 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.207C>T (p.Gly69=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001436753]|G6PD-related condition [RCV003965838] ChrX:154535997 [GRCh38]
ChrX:153764212 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1254G>A (p.Ser418=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001448059] ChrX:154532600 [GRCh38]
ChrX:153760815 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.771-8G>A single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001432387]|not provided [RCV001810735] ChrX:154533677 [GRCh38]
ChrX:153761892 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.564C>T (p.Ser188=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001432509] ChrX:154534418 [GRCh38]
ChrX:153762633 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1186C>G (p.Pro396Ala) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305609]|not provided [RCV001509136] ChrX:154532668 [GRCh38]
ChrX:153760883 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_001360016.2(G6PD):c.1365-7C>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001458013] ChrX:154532287 [GRCh38]
ChrX:153760502 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.865-221C>T single nucleotide variant not provided [RCV001650459] ChrX:154533349 [GRCh38]
ChrX:153761564 [GRCh37]
ChrX:Xq28		 benign
NM_001360016.2(G6PD):c.770+175C>T single nucleotide variant not provided [RCV001670217] ChrX:154533860 [GRCh38]
ChrX:153762075 [GRCh37]
ChrX:Xq28		 benign
NM_001360016.2(G6PD):c.738C>T (p.Arg246=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001505932] ChrX:154534067 [GRCh38]
ChrX:153762282 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.228A>T (p.Thr76=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001469928] ChrX:154535976 [GRCh38]
ChrX:153764191 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.645-8C>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001455344] ChrX:154534168 [GRCh38]
ChrX:153762383 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.786C>T (p.Asn262=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001504666] ChrX:154533654 [GRCh38]
ChrX:153761869 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.611G>A (p.Gly204Asp) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305610]|not provided [RCV001509138] ChrX:154534371 [GRCh38]
ChrX:153762586 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.244A>C (p.Lys82Gln) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002564276]|not provided [RCV001509139]|not specified [RCV003317506] ChrX:154535960 [GRCh38]
ChrX:153764175 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.645-9T>C single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001506856] ChrX:154534169 [GRCh38]
ChrX:153762384 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.663C>T (p.Phe221=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001461333] ChrX:154534142 [GRCh38]
ChrX:153762357 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1023C>T (p.Val341=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001403845] ChrX:154532970 [GRCh38]
ChrX:153761185 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.406C>T (p.Arg136Cys) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001388767]|Malaria, susceptibility to [RCV003469744]|not provided [RCV001810730] ChrX:154535247 [GRCh38]
ChrX:153763462 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_001360016.2(G6PD):c.381C>T (p.Ala127=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001514677] ChrX:154535272 [GRCh38]
ChrX:153763487 [GRCh37]
ChrX:Xq28		 benign
NM_001360016.2(G6PD):c.1052-10C>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001423984] ChrX:154532812 [GRCh38]
ChrX:153761027 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1227G>A (p.Pro409=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001485314] ChrX:154532627 [GRCh38]
ChrX:153760842 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1441C>G (p.Pro481Ala) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001420427] ChrX:154532204 [GRCh38]
ChrX:153760419 [GRCh37]
ChrX:Xq28		 conflicting interpretations of pathogenicity|uncertain significance
NC_000023.11:g.154534338dup duplication Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001420428] ChrX:154534336..154534337 [GRCh38]
ChrX:153762551..153762552 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.353A>C (p.Tyr118Ser) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001420429] ChrX:154535300 [GRCh38]
ChrX:153763515 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.235G>C (p.Asp79His) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001420430] ChrX:154535969 [GRCh38]
ChrX:153764184 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.864+7G>A single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001418005] ChrX:154533569 [GRCh38]
ChrX:153761784 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1182G>A (p.Val394=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001402046] ChrX:154532672 [GRCh38]
ChrX:153760887 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1443C>T (p.Pro481=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001452207] ChrX:154532202 [GRCh38]
ChrX:153760417 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1086G>A (p.Leu362=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001499416] ChrX:154532768 [GRCh38]
ChrX:153760983 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.152C>T (p.Thr51Ile) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001420431] ChrX:154536147 [GRCh38]
ChrX:153764362 [GRCh37]
ChrX:Xq28		 likely pathogenic|conflicting interpretations of pathogenicity
NC_000023.10:g.(?_152014869)_(155171615_?)del deletion 3-Methylglutaconic aciduria type 2 [RCV003119101]|Adrenoleukodystrophy [RCV003119100]|Creatine transporter deficiency [RCV003119103]|Heterotopia, periventricular, X-linked dominant [RCV003109218]|Spastic paraplegia [RCV003109219]|X-linked Emery-Dreifuss muscular dystrophy [RCV003119102] ChrX:152014869..155171615 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.120+3625G>A single nucleotide variant Ectodermal dysplasia and immunodeficiency 1 [RCV002272958]|IKBKG-related condition [RCV003971219] ChrX:154542411 [GRCh38]
ChrX:153770626 [GRCh37]
ChrX:Xq28		 likely benign
NC_000023.10:g.(?_153640181)_(153775961_?)dup duplication 3-Methylglutaconic aciduria type 2 [RCV003119319]|Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003119320]|not provided [RCV003109229] ChrX:153640181..153775961 [GRCh37]
ChrX:Xq28		 uncertain significance|no classifications from unflagged records
NM_001360016.2(G6PD):c.551C>T (p.Ser184Phe) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001801166] ChrX:154534431 [GRCh38]
ChrX:153762646 [GRCh37]
ChrX:Xq28		 likely pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731) copy number loss Turner syndrome [RCV002280672] ChrX:62685885..155233731 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
NM_001360016.2(G6PD):c.857A>G (p.Asp286Gly) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001801167] ChrX:154533583 [GRCh38]
ChrX:153761798 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.835A>T (p.Thr279Ser) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001781140]|Malaria, susceptibility to [RCV003470911] ChrX:154533605 [GRCh38]
ChrX:153761820 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_001360016.2(G6PD):c.318C>T (p.Ser106=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002542337]|not provided [RCV001811811] ChrX:154535335 [GRCh38]
ChrX:153763550 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.628A>G (p.Asn210Asp) single nucleotide variant not provided [RCV001811906] ChrX:154534354 [GRCh38]
ChrX:153762569 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.1493G>C (p.Arg498Thr) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001949746] ChrX:154532055 [GRCh38]
ChrX:153760270 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.990C>T (p.Arg330=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002003967] ChrX:154533003 [GRCh38]
ChrX:153761218 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_001360016.2(G6PD):c.72T>A (p.Asp24Glu) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001839227] ChrX:154546084 [GRCh38]
ChrX:153774299 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.1104G>C (p.Glu368Asp) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001915236] ChrX:154532750 [GRCh38]
ChrX:153760965 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq28(chrX:153731506-153861077)x3 copy number gain not provided [RCV001827726] ChrX:153731506..153861077 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.220C>T (p.Arg74Cys) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001896502] ChrX:154535984 [GRCh38]
ChrX:153764199 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.1052-9G>A single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002022428] ChrX:154532811 [GRCh38]
ChrX:153761026 [GRCh37]
ChrX:Xq28		 likely benign
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV001839062] ChrX:140888048..154656872 [GRCh38]
ChrX:Xq27.1-28		 pathogenic
NM_001360016.2(G6PD):c.359G>T (p.Arg120Leu) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001964872] ChrX:154535294 [GRCh38]
ChrX:153763509 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV001834509] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq28(chrX:153093501-153792322)x2 copy number gain not provided [RCV001834439] ChrX:153093501..153792322 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.1375C>T (p.Arg459Cys) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001961782] ChrX:154532270 [GRCh38]
ChrX:153760485 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.720C>T (p.Pro240=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001942417] ChrX:154534085 [GRCh38]
ChrX:153762300 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.196T>A (p.Phe66Ile) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001877861] ChrX:154536008 [GRCh38]
ChrX:153764223 [GRCh37]
ChrX:Xq28		 conflicting interpretations of pathogenicity|uncertain significance
NM_001360016.2(G6PD):c.227C>T (p.Thr76Ile) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001962583] ChrX:154535977 [GRCh38]
ChrX:153764192 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.1485G>A (p.Leu495=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001900562] ChrX:154532063 [GRCh38]
ChrX:153760278 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1376G>A (p.Arg459His) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002030520] ChrX:154532269 [GRCh38]
ChrX:153760484 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.242G>A (p.Arg81His) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002017043] ChrX:154535962 [GRCh38]
ChrX:153764177 [GRCh37]
ChrX:Xq28		 conflicting interpretations of pathogenicity|uncertain significance
NM_001360016.2(G6PD):c.945G>C (p.Glu315Asp) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001898372] ChrX:154533048 [GRCh38]
ChrX:153761263 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.414C>T (p.Phe138=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001972404] ChrX:154535239 [GRCh38]
ChrX:153763454 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.251G>A (p.Ser84Asn) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001924301] ChrX:154535953 [GRCh38]
ChrX:153764168 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.1420C>G (p.Leu474Val) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002018948] ChrX:154532225 [GRCh38]
ChrX:153760440 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001099857.5(IKBKG):c.-16+1G>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001940200] ChrX:154547746 [GRCh38]
ChrX:153775961 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.94C>T (p.His32Tyr) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001969065] ChrX:154546062 [GRCh38]
ChrX:153774277 [GRCh37]
ChrX:Xq28		 likely pathogenic
NC_000023.10:g.(?_153688524)_(155171615_?)del deletion not provided [RCV002011857] ChrX:153688524..155171615 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.1053G>A (p.Gly351=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002105304] ChrX:154532801 [GRCh38]
ChrX:153761016 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1344C>T (p.Ser448=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002200062] ChrX:154532406 [GRCh38]
ChrX:153760621 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1464C>T (p.Gly488=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002110849] ChrX:154532084 [GRCh38]
ChrX:153760299 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.396A>C (p.Ser132=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002111002] ChrX:154535257 [GRCh38]
ChrX:153763472 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1437C>T (p.Pro479=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002113834] ChrX:154532208 [GRCh38]
ChrX:153760423 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1458-12G>A single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002075931] ChrX:154532102 [GRCh38]
ChrX:153760317 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1052-19T>C single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002206155] ChrX:154532821 [GRCh38]
ChrX:153761036 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.864+8dup duplication Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002212411]|not provided [RCV003738134] ChrX:154533567..154533568 [GRCh38]
ChrX:153761782..153761783 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1260G>A (p.Leu420=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002091237] ChrX:154532594 [GRCh38]
ChrX:153760809 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.333G>A (p.Gln111=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002217460] ChrX:154535320 [GRCh38]
ChrX:153763535 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.30C>A (p.Thr10=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002139795] ChrX:154546126 [GRCh38]
ChrX:153774341 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.186C>T (p.Pro62=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002103414] ChrX:154536018 [GRCh38]
ChrX:153764233 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1288-12T>A single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002149907] ChrX:154532474 [GRCh38]
ChrX:153760689 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1457+10G>A single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002123315] ChrX:154532178 [GRCh38]
ChrX:153760393 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.441C>T (p.Tyr147=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002115498] ChrX:154535212 [GRCh38]
ChrX:153763427 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.516C>T (p.Pro172=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002115572] ChrX:154534466 [GRCh38]
ChrX:153762681 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1098G>A (p.Lys366=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002117328] ChrX:154532756 [GRCh38]
ChrX:153760971 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1356C>T (p.Phe452=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002168963] ChrX:154532394 [GRCh38]
ChrX:153760609 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1287+19G>A single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002146961] ChrX:154532548 [GRCh38]
ChrX:153760763 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1287+18A>G single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002146869] ChrX:154532549 [GRCh38]
ChrX:153760764 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1314G>A (p.Glu438=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002156285] ChrX:154532436 [GRCh38]
ChrX:153760651 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.648T>C (p.Phe216=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002156562] ChrX:154534157 [GRCh38]
ChrX:153762372 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.376A>T (p.Asn126Tyr) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002170707] ChrX:154535277 [GRCh38]
ChrX:153763492 [GRCh37]
ChrX:Xq28		 likely benign|conflicting interpretations of pathogenicity
NM_001360016.2(G6PD):c.597C>T (p.Ile199=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002210400] ChrX:154534385 [GRCh38]
ChrX:153762600 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.654C>T (p.Asn218=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002173362] ChrX:154534151 [GRCh38]
ChrX:153762366 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.795G>A (p.Leu265=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002212995] ChrX:154533645 [GRCh38]
ChrX:153761860 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.121-20A>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002097868] ChrX:154536198 [GRCh38]
ChrX:153764413 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1074C>T (p.Cys358=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002215275] ChrX:154532780 [GRCh38]
ChrX:153760995 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.969G>A (p.Leu323=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002217856] ChrX:154533024 [GRCh38]
ChrX:153761239 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1422G>C (p.Leu474=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002210467] ChrX:154532223 [GRCh38]
ChrX:153760438 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.267+7G>A single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002105984] ChrX:154535930 [GRCh38]
ChrX:153764145 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1143C>G (p.Phe381Leu) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002249998] ChrX:154532711 [GRCh38]
ChrX:153760926 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.323T>A (p.Val108Glu) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002250000] ChrX:154535330 [GRCh38]
ChrX:153763545 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.121-13C>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002112846] ChrX:154536191 [GRCh38]
ChrX:153764406 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1272C>T (p.Tyr424=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002115541] ChrX:154532582 [GRCh38]
ChrX:153760797 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.644+20G>A single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002119674] ChrX:154534318 [GRCh38]
ChrX:153762533 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1457+19C>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002112803] ChrX:154532169 [GRCh38]
ChrX:153760384 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.384C>T (p.Leu128=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002120366] ChrX:154535269 [GRCh38]
ChrX:153763484 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.159-8G>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002121878] ChrX:154536053 [GRCh38]
ChrX:153764268 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1288-8C>A single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002125150] ChrX:154532470 [GRCh38]
ChrX:153760685 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.708C>T (p.Thr236=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002155091] ChrX:154534097 [GRCh38]
ChrX:153762312 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.78C>T (p.Phe26=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002157254] ChrX:154546078 [GRCh38]
ChrX:153774293 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.336C>T (p.Tyr112=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002161871] ChrX:154535317 [GRCh38]
ChrX:153763532 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1269C>T (p.Thr423=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002177521] ChrX:154532585 [GRCh38]
ChrX:153760800 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1482G>A (p.Glu494=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002103071]|not provided [RCV003312043] ChrX:154532066 [GRCh38]
ChrX:153760281 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1364+15C>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002180373] ChrX:154532371 [GRCh38]
ChrX:153760586 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.447C>T (p.Ala149=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002188865] ChrX:154535206 [GRCh38]
ChrX:153763421 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1051+11C>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002189387] ChrX:154532931 [GRCh38]
ChrX:153761146 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1338C>T (p.Cys446=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002189656] ChrX:154532412 [GRCh38]
ChrX:153760627 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.168C>T (p.Phe56=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002088398] ChrX:154536036 [GRCh38]
ChrX:153764251 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.153C>T (p.Thr51=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002191930] ChrX:154536146 [GRCh38]
ChrX:153764361 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1288-8C>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002194526] ChrX:154532470 [GRCh38]
ChrX:153760685 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.309C>T (p.Ala103=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002204660] ChrX:154535344 [GRCh38]
ChrX:153763559 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.633C>G (p.Leu211=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002101845] ChrX:154534349 [GRCh38]
ChrX:153762564 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1266G>C (p.Leu422=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002208159] ChrX:154532588 [GRCh38]
ChrX:153760803 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.672C>T (p.Ile224=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002133519] ChrX:154534133 [GRCh38]
ChrX:153762348 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1059C>T (p.Pro353=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002080943] ChrX:154532795 [GRCh38]
ChrX:153761010 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1287+14A>G single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002090291] ChrX:154532553 [GRCh38]
ChrX:153760768 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1368C>T (p.Asp456=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002098061]|G6PD-related condition [RCV003893271] ChrX:154532277 [GRCh38]
ChrX:153760492 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1458-13C>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002143393] ChrX:154532103 [GRCh38]
ChrX:153760318 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.432G>A (p.Pro144=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002157395] ChrX:154535221 [GRCh38]
ChrX:153763436 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1051+11C>G single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002172267] ChrX:154532931 [GRCh38]
ChrX:153761146 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.268-11G>A single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002186678] ChrX:154535396 [GRCh38]
ChrX:153763611 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.264C>G (p.Phe88Leu) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002195202]|not specified [RCV003388089] ChrX:154535940 [GRCh38]
ChrX:153764155 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.771-9C>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002201922] ChrX:154533678 [GRCh38]
ChrX:153761893 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.321T>C (p.Tyr107=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002095172] ChrX:154535332 [GRCh38]
ChrX:153763547 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.177C>T (p.Gly59=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002112888] ChrX:154536027 [GRCh38]
ChrX:153764242 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1506G>A (p.Gln502=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002138010] ChrX:154532042 [GRCh38]
ChrX:153760257 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1366G>A (p.Asp456Asn) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002249047] ChrX:154532279 [GRCh38]
ChrX:153760494 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.465C>T (p.His155=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003111453] ChrX:154535188 [GRCh38]
ChrX:153763403 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1288-4A>G single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003112859] ChrX:154532466 [GRCh38]
ChrX:153760681 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.686A>T (p.Asn229Ile) single nucleotide variant not provided [RCV003120160] ChrX:154534119 [GRCh38]
ChrX:153762334 [GRCh37]
ChrX:Xq28		 uncertain significance
NC_000023.10:g.(?_153001546)_(154563736_?)dup duplication Adrenoleukodystrophy [RCV003119108] ChrX:153001546..154563736 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.412T>G (p.Phe138Val) single nucleotide variant not provided [RCV003120313] ChrX:154535241 [GRCh38]
ChrX:153763456 [GRCh37]
ChrX:Xq28		 likely pathogenic
NC_000023.10:g.(?_153762230)_(153775961_?)dup duplication Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003122394] ChrX:153762230..153775961 [GRCh37]
ChrX:Xq28		 uncertain significance
NC_000023.10:g.(?_153760215)_(153764413_?)dup duplication Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003122395] ChrX:153760215..153764413 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.1013C>T (p.Ala338Val) single nucleotide variant not provided [RCV002227378] ChrX:154532980 [GRCh38]
ChrX:153761195 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.703C>T (p.Leu235Phe) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002249999]|not specified [RCV003235690] ChrX:154534102 [GRCh38]
ChrX:153762317 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic|uncertain significance
NM_001360016.2(G6PD):c.-9+10C>T single nucleotide variant not provided [RCV002227315] ChrX:154546779 [GRCh38]
ChrX:153774994 [GRCh37]
ChrX:Xq28		 likely benign
Single allele deletion Immunodeficiency 33 [RCV002247742]|Splenomegaly [RCV002247743] ChrX:153427468..156004919 [GRCh38]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number gain 46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq28(chrX:153529891-155114697)x3 copy number gain not provided [RCV002265532] ChrX:153529891..155114697 [GRCh37]
ChrX:Xq28		 not provided
NM_001360016.2(G6PD):c.194C>A (p.Thr65Asn) single nucleotide variant not provided [RCV002274637] ChrX:154536010 [GRCh38]
ChrX:153764225 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 copy number loss See cases [RCV002286357] ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xq27.3-28(chrX:142401540-155233731)x1 copy number loss See cases [RCV002292203] ChrX:142401540..155233731 [GRCh37]
ChrX:Xq27.3-28		 pathogenic
NM_001360016.2(G6PD):c.1457+12G>A single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003622288] ChrX:154532176 [GRCh38]
ChrX:153760391 [GRCh37]
ChrX:Xq28		 likely benign
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 copy number gain Klinefelter syndrome [RCV002282732] ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_001360016.2(G6PD):c.73G>T (p.Ala25Ser) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002298099] ChrX:154546083 [GRCh38]
ChrX:153774298 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.77T>C (p.Phe26Ser) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002296233] ChrX:154546079 [GRCh38]
ChrX:153774294 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq28(chrX:153613883-155233731)x2 copy number gain not provided [RCV002472481] ChrX:153613883..155233731 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.867C>T (p.Val289=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002726674] ChrX:154533126 [GRCh38]
ChrX:153761341 [GRCh37]
ChrX:Xq28		 likely benign
GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1 copy number loss not provided [RCV002474567] ChrX:124749464..155233731 [GRCh37]
ChrX:Xq25-28		 pathogenic
NM_001360016.2(G6PD):c.25C>T (p.Arg9Trp) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305800] ChrX:154546131 [GRCh38]
ChrX:153774346 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.833C>T (p.Ser278Phe) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305699] ChrX:154533607 [GRCh38]
ChrX:153761822 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.962G>A (p.Gly321Glu) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305711] ChrX:154533031 [GRCh38]
ChrX:153761246 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.1067T>A (p.Leu356Gln) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305719] ChrX:154532787 [GRCh38]
ChrX:153761002 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.445G>A (p.Ala149Thr) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305721] ChrX:154535208 [GRCh38]
ChrX:153763423 [GRCh37]
ChrX:Xq28		 benign|conflicting interpretations of pathogenicity
NM_001360016.2(G6PD):c.1084_1101del (p.Leu362_Ala367del) deletion Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305723] ChrX:154532753..154532770 [GRCh38]
ChrX:153760968..153760985 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.1132G>A (p.Gly378Ser) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305724] ChrX:154532722 [GRCh38]
ChrX:153760937 [GRCh37]
ChrX:Xq28		 likely pathogenic|conflicting interpretations of pathogenicity
NM_001360016.2(G6PD):c.1141T>C (p.Phe381Leu) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305725] ChrX:154532713 [GRCh38]
ChrX:153760928 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.1154G>T (p.Cys385Phe) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305726] ChrX:154532700 [GRCh38]
ChrX:153760915 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.1166A>G (p.Glu389Gly) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305728] ChrX:154532688 [GRCh38]
ChrX:153760903 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.1380G>C (p.Glu460Asp) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305745] ChrX:154532265 [GRCh38]
ChrX:153760480 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.1381G>A (p.Ala461Thr) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305746] ChrX:154532264 [GRCh38]
ChrX:153760479 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.1283dup (p.Tyr428Ter) duplication Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305758] ChrX:154532570..154532571 [GRCh38]
ChrX:153760785..153760786 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.1422G>A (p.Leu474=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305761] ChrX:154532223 [GRCh38]
ChrX:153760438 [GRCh37]
ChrX:Xq28		 benign
NM_001360016.2(G6PD):c.679C>T (p.Arg227Trp) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305769] ChrX:154534126 [GRCh38]
ChrX:153762341 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.770G>A (p.Arg257Gln) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305772] ChrX:154534035 [GRCh38]
ChrX:153762250 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.1118T>C (p.Phe373Ser) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305777] ChrX:154532736 [GRCh38]
ChrX:153760951 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.1153T>G (p.Cys385Gly) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305780] ChrX:154532701 [GRCh38]
ChrX:153760916 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.1226C>A (p.Pro409Gln) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305789] ChrX:154532628 [GRCh38]
ChrX:153760843 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.472T>G (p.Cys158Gly) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305804] ChrX:154535181 [GRCh38]
ChrX:153763396 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.595A>G (p.Ile199Val) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305809] ChrX:154534387 [GRCh38]
ChrX:153762602 [GRCh37]
ChrX:Xq28		 conflicting interpretations of pathogenicity|uncertain significance
NM_001360016.2(G6PD):c.989G>A (p.Arg330His) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305811] ChrX:154533004 [GRCh38]
ChrX:153761219 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.148C>T (p.Pro50Ser) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305814]|not specified [RCV003331343] ChrX:154536151 [GRCh38]
ChrX:153764366 [GRCh37]
ChrX:Xq28		 likely pathogenic|uncertain significance
NM_001360016.2(G6PD):c.409C>T (p.Leu137Phe) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305834]|Malaria, susceptibility to [RCV003471321] ChrX:154535244 [GRCh38]
ChrX:153763459 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.486-17del deletion Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305841] ChrX:154534513 [GRCh38]
ChrX:153762728 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.573C>G (p.Phe191Leu) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305850] ChrX:154534409 [GRCh38]
ChrX:153762624 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.820G>A (p.Glu274Lys) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305870] ChrX:154533620 [GRCh38]
ChrX:153761835 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.821A>T (p.Glu274Val) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305871] ChrX:154533619 [GRCh38]
ChrX:153761834 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.519C>G (p.Phe173Leu) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305766] ChrX:154534463 [GRCh38]
ChrX:153762678 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.536G>A (p.Ser179Asn) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305767] ChrX:154534446 [GRCh38]
ChrX:153762661 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.562TCC[1] (p.Ser189del) microsatellite Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305768] ChrX:154534415..154534417 [GRCh38]
ChrX:153762630..153762632 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.848A>G (p.Asp283Gly) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305774] ChrX:154533592 [GRCh38]
ChrX:153761807 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.1215G>A (p.Met405Ile) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305786] ChrX:154532639 [GRCh38]
ChrX:153760854 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.1225C>T (p.Pro409Ser) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305788] ChrX:154532629 [GRCh38]
ChrX:153760844 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.1226C>G (p.Pro409Arg) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305790] ChrX:154532628 [GRCh38]
ChrX:153760843 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.1246G>A (p.Glu416Lys) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305791] ChrX:154532608 [GRCh38]
ChrX:153760823 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.1284C>A (p.Tyr428Ter) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305792] ChrX:154532570 [GRCh38]
ChrX:153760785 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.1285A>G (p.Lys429Glu) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305794] ChrX:154532569 [GRCh38]
ChrX:153760784 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.1288-2A>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305795] ChrX:154532464 [GRCh38]
ChrX:153760679 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.988C>T (p.Arg330Cys) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305813]|not specified [RCV003331342] ChrX:154533005 [GRCh38]
ChrX:153761220 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.185C>A (p.Pro62His) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305817] ChrX:154536019 [GRCh38]
ChrX:153764234 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.219C>T (p.Ser73=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305822] ChrX:154535985 [GRCh38]
ChrX:153764200 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.312C>T (p.Arg104=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305828] ChrX:154535341 [GRCh38]
ChrX:153763556 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.473G>A (p.Cys158Tyr) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305838] ChrX:154535180 [GRCh38]
ChrX:153763395 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.496C>T (p.Arg166Cys) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305843] ChrX:154534486 [GRCh38]
ChrX:153762701 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.527A>G (p.Asp176Gly) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305847] ChrX:154534455 [GRCh38]
ChrX:153762670 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.121-2679C>G single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305848] ChrX:154538857 [GRCh38]
ChrX:153767071 [GRCh37]
ChrX:Xq28		 benign
NM_001360016.2(G6PD):c.586A>T (p.Ile196Phe) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305852] ChrX:154534396 [GRCh38]
ChrX:153762611 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.743G>A (p.Gly248Asp) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305866] ChrX:154534062 [GRCh38]
ChrX:153762277 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.770G>T (p.Arg257Leu) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305868] ChrX:154534035 [GRCh38]
ChrX:153762250 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.811G>C (p.Val271Leu) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305869] ChrX:154533629 [GRCh38]
ChrX:153761844 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001042351.3(G6PD):c.-9+2T>G single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305753] ChrX:154547466 [GRCh38]
ChrX:153775681 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.31C>T (p.Gln11Ter) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305759] ChrX:154546125 [GRCh38]
ChrX:153774340 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq28(chrX:153560562-153864851)x3 copy number gain Septo-optic dysplasia sequence [RCV002305872] ChrX:153560562..153864851 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.825G>C (p.Lys275Asn) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305696] ChrX:154533615 [GRCh38]
ChrX:153761830 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.826C>T (p.Pro276Ser) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305697] ChrX:154533614 [GRCh38]
ChrX:153761829 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.844G>T (p.Asp282Tyr) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305701] ChrX:154533596 [GRCh38]
ChrX:153761811 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.853C>T (p.Arg285Cys) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305703] ChrX:154533587 [GRCh38]
ChrX:153761802 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.864+43G>A single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305704] ChrX:154533533 [GRCh38]
ChrX:153761748 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.995C>T (p.Ser332Phe) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305712] ChrX:154532998 [GRCh38]
ChrX:153761213 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.1063A>G (p.Ile355Val) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305718] ChrX:154532791 [GRCh38]
ChrX:153761006 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.1342A>G (p.Ser448Gly) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305736] ChrX:154532408 [GRCh38]
ChrX:153760623 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.1351C>T (p.His451Tyr) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305737] ChrX:154532399 [GRCh38]
ChrX:153760614 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.1358T>A (p.Val453Glu) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305739] ChrX:154532392 [GRCh38]
ChrX:153760607 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.1367A>T (p.Asp456Val) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305742] ChrX:154532278 [GRCh38]
ChrX:153760493 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.1372C>T (p.Leu458Phe) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305743] ChrX:154532273 [GRCh38]
ChrX:153760488 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.1375C>G (p.Arg459Gly) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305744]|G6PD deficiency [RCV003317590] ChrX:154532270 [GRCh38]
ChrX:153760485 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.1387C>A (p.Arg463Ser) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305747] ChrX:154532258 [GRCh38]
ChrX:153760473 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.916G>A (p.Gly306Ser) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305757] ChrX:154533077 [GRCh38]
ChrX:153761292 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.*272G>A single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305776] ChrX:154531728 [GRCh38]
ChrX:153759943 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1139T>C (p.Ile380Thr) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305779] ChrX:154532715 [GRCh38]
ChrX:153760930 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.1177C>G (p.Arg393Gly) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305782] ChrX:154532677 [GRCh38]
ChrX:153760892 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.1183C>T (p.Gln395Ter) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305783] ChrX:154532671 [GRCh38]
ChrX:153760886 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.1205C>A (p.Thr402Asn) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305785] ChrX:154532649 [GRCh38]
ChrX:153760864 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.1220A>C (p.Lys407Thr) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305787] ChrX:154532634 [GRCh38]
ChrX:153760849 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.197T>A (p.Phe66Tyr) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305801] ChrX:154536007 [GRCh38]
ChrX:153764222 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.499A>T (p.Ile167Phe) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305805] ChrX:154534483 [GRCh38]
ChrX:153762698 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.*357G>A single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305812] ChrX:154531643 [GRCh38]
ChrX:153759858 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.170G>A (p.Arg57Gln) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305815] ChrX:154536034 [GRCh38]
ChrX:153764249 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.179T>C (p.Leu60Pro) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305816] ChrX:154536025 [GRCh38]
ChrX:153764240 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.185C>T (p.Pro62Leu) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305818] ChrX:154536019 [GRCh38]
ChrX:153764234 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.187G>A (p.Glu63Lys) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305819] ChrX:154536017 [GRCh38]
ChrX:153764232 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.197T>G (p.Phe66Cys) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305820] ChrX:154536007 [GRCh38]
ChrX:153764222 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.227C>A (p.Thr76Lys) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305825]|not provided [RCV003438995] ChrX:154535977 [GRCh38]
ChrX:153764192 [GRCh37]
ChrX:Xq28		 likely pathogenic|uncertain significance
NM_001360016.2(G6PD):c.371A>G (p.His124Arg) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305831] ChrX:154535282 [GRCh38]
ChrX:153763497 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.442G>A (p.Glu148Lys) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305835] ChrX:154535211 [GRCh38]
ChrX:153763426 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.486-17C>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305840] ChrX:154534513 [GRCh38]
ChrX:153762728 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.488G>A (p.Gly163Asp) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305842] ChrX:154534494 [GRCh38]
ChrX:153762709 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.592C>A (p.Arg198Ser) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305853] ChrX:154534390 [GRCh38]
ChrX:153762605 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.598G>A (p.Asp200Asn) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305854] ChrX:154534384 [GRCh38]
ChrX:153762599 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.634A>G (p.Met212Val) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305856]|Malaria, susceptibility to [RCV003464445] ChrX:154534348 [GRCh38]
ChrX:153762563 [GRCh37]
ChrX:Xq28		 likely pathogenic|conflicting interpretations of pathogenicity
NM_001360016.2(G6PD):c.691G>C (p.Ala231Pro) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305859] ChrX:154534114 [GRCh38]
ChrX:153762329 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.695G>A (p.Cys232Tyr) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305860] ChrX:154534110 [GRCh38]
ChrX:153762325 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.737G>T (p.Arg246Leu) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305864] ChrX:154534068 [GRCh38]
ChrX:153762283 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.120+2955A>G single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305823] ChrX:154543081 [GRCh38]
ChrX:153771296 [GRCh37]
ChrX:Xq28		 benign
NM_001360016.2(G6PD):c.34G>T (p.Val12Leu) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305797] ChrX:154546122 [GRCh38]
ChrX:153774337 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.463C>G (p.His155Asp) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305837] ChrX:154535190 [GRCh38]
ChrX:153763405 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_001360016.2(G6PD):c.121-1792T>C single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305695] ChrX:154537970 [GRCh38]
ChrX:153766185 [GRCh37]
ChrX:Xq28		 benign
NM_001360016.2(G6PD):c.832T>C (p.Ser278Pro) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305698] ChrX:154533608 [GRCh38]
ChrX:153761823 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.921G>C (p.Gln307His) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305710] ChrX:154533072 [GRCh38]
ChrX:153761287 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.1006A>G (p.Thr336Ala) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305713] ChrX:154532987 [GRCh38]
ChrX:153761202 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.1052G>T (p.Gly351Val) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305717] ChrX:154532802 [GRCh38]
ChrX:153761017 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.1229G>C (p.Gly410Ala) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305731] ChrX:154532625 [GRCh38]
ChrX:153760840 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.1340G>T (p.Gly447Val) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305735] ChrX:154532410 [GRCh38]
ChrX:153760625 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.1366G>C (p.Asp456His) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305741] ChrX:154532279 [GRCh38]
ChrX:153760494 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.1387C>T (p.Arg463Cys) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305748]|Malaria, susceptibility to [RCV003464443] ChrX:154532258 [GRCh38]
ChrX:153760473 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_001360016.2(G6PD):c.864+44del deletion Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305705] ChrX:154533532 [GRCh38]
ChrX:153761747 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.920A>C (p.Gln307Pro) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305709] ChrX:154533073 [GRCh38]
ChrX:153761288 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.1291G>A (p.Val431Met) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305733] ChrX:154532459 [GRCh38]
ChrX:153760674 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.1361G>T (p.Arg454Leu) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305740] ChrX:154532389 [GRCh38]
ChrX:153760604 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.1490_1492del (p.Lys497del) deletion Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305750] ChrX:154532056..154532058 [GRCh38]
ChrX:153760271..153760273 [GRCh37]
ChrX:Xq28		 likely pathogenic
NC_000023.11:g.154532803dup duplication Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305756] ChrX:154532799..154532800 [GRCh38]
ChrX:153761014..153761015 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.241C>T (p.Arg81Cys) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305762] ChrX:154535963 [GRCh38]
ChrX:153764178 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.283_285del (p.Lys95del) deletion Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305763] ChrX:154535368..154535370 [GRCh38]
ChrX:153763583..153763585 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.1155C>G (p.Cys385Trp) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305781] ChrX:154532699 [GRCh38]
ChrX:153760914 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.1292T>G (p.Val431Gly) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305796] ChrX:154532458 [GRCh38]
ChrX:153760673 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.1463G>T (p.Gly488Val) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305798] ChrX:154532085 [GRCh38]
ChrX:153760300 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.1466C>T (p.Pro489Leu) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305799] ChrX:154532082 [GRCh38]
ChrX:153760297 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.701T>C (p.Ile234Thr) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305810] ChrX:154534104 [GRCh38]
ChrX:153762319 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.356A>C (p.Gln119Pro) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305830] ChrX:154535297 [GRCh38]
ChrX:153763512 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.851T>C (p.Val284Ala) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305702] ChrX:154533589 [GRCh38]
ChrX:153761804 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.1081G>A (p.Ala361Thr) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305720] ChrX:154532773 [GRCh38]
ChrX:153760988 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.1094G>A (p.Arg365His) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305722] ChrX:154532760 [GRCh38]
ChrX:153760975 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.514C>T (p.Pro172Ser) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305845] ChrX:154534468 [GRCh38]
ChrX:153762683 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.485+184del deletion Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305846] ChrX:154534984 [GRCh38]
ChrX:153763199 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.121-2107T>C single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305855] ChrX:154538285 [GRCh38]
ChrX:153766499 [GRCh37]
ChrX:Xq28		 benign
NM_001360016.2(G6PD):c.121-1813del deletion Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305863] ChrX:154537991 [GRCh38]
ChrX:153766206..153766225 [GRCh37]
ChrX:Xq28		 benign
NM_001360016.2(G6PD):c.739G>A (p.Gly247Arg) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305865]|not specified [RCV003324020] ChrX:154534066 [GRCh38]
ChrX:153762281 [GRCh37]
ChrX:Xq28		 likely pathogenic|uncertain significance
NM_001360016.2(G6PD):c.1330G>A (p.Val444Ile) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305734] ChrX:154532420 [GRCh38]
ChrX:153760635 [GRCh37]
ChrX:Xq28		 likely pathogenic|conflicting interpretations of pathogenicity
NM_001360016.2(G6PD):c.882del (p.Lys293_Cys294insTer) deletion Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305754] ChrX:154533111 [GRCh38]
ChrX:153761326 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.827C>T (p.Pro276Leu) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305773] ChrX:154533613 [GRCh38]
ChrX:153761828 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.997ACC[1] (p.Thr334del) microsatellite Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305775] ChrX:154532991..154532993 [GRCh38]
ChrX:153761206..153761208 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.1138A>G (p.Ile380Val) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305778] ChrX:154532716 [GRCh38]
ChrX:153760931 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.290A>T (p.Lys97Met) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305827] ChrX:154535363 [GRCh38]
ChrX:153763578 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.352T>C (p.Tyr118His) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305829] ChrX:154535301 [GRCh38]
ChrX:153763516 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.497G>A (p.Arg166His) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305844]|Malaria, susceptibility to [RCV003464444] ChrX:154534485 [GRCh38]
ChrX:153762700 [GRCh37]
ChrX:Xq28		 pathogenic|likely pathogenic
NM_001360016.2(G6PD):c.683ACA[1] (p.Asn229del) microsatellite Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305858] ChrX:154534117..154534119 [GRCh38]
ChrX:153762332..153762334 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.697G>C (p.Val233Leu) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305861] ChrX:154534108 [GRCh38]
ChrX:153762323 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.835A>G (p.Thr279Ala) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305700] ChrX:154533605 [GRCh38]
ChrX:153761820 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.910G>T (p.Val304Phe) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305708] ChrX:154533083 [GRCh38]
ChrX:153761298 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.1030G>A (p.Val344Met) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305714] ChrX:154532963 [GRCh38]
ChrX:153761178 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.1175T>C (p.Ile392Thr) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305729] ChrX:154532679 [GRCh38]
ChrX:153760894 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.1193A>G (p.Glu398Gly) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305730] ChrX:154532661 [GRCh38]
ChrX:153760876 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.1457+7_1458-43del deletion Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305749] ChrX:154532133..154532181 [GRCh38]
ChrX:153760348..153760396 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.1478_1479insAGGAGGCAGA (p.Asp493fs) insertion Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305755] ChrX:154532069..154532070 [GRCh38]
ChrX:153760284..153760285 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.130G>A (p.Ala44Thr) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305760] ChrX:154536169 [GRCh38]
ChrX:153764384 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.*304T>C single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305765] ChrX:154531696 [GRCh38]
ChrX:153759911 [GRCh37]
ChrX:Xq28		 benign
NM_001360016.2(G6PD):c.713A>G (p.Lys238Arg) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305771] ChrX:154534092 [GRCh38]
ChrX:153762307 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.224T>C (p.Leu75Pro) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305824] ChrX:154535980 [GRCh38]
ChrX:153764195 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.274C>T (p.Pro92Ser) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305826] ChrX:154535379 [GRCh38]
ChrX:153763594 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.121-4460del deletion Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305839] ChrX:154540638 [GRCh38]
ChrX:153768852 [GRCh37]
ChrX:Xq28		 benign
NM_001360016.2(G6PD):c.585G>C (p.Gln195His) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305851] ChrX:154534397 [GRCh38]
ChrX:153762612 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.725_730del (p.Gly242_Thr243del) deletion Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305862] ChrX:154534075..154534080 [GRCh38]
ChrX:153762290..153762295 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_000402.4(G6PD):c.7C>T (p.Arg3Trp) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305784] ChrX:154546864 [GRCh38]
ChrX:153775079 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.94C>G (p.His32Asp) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305802] ChrX:154546062 [GRCh38]
ChrX:153774277 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.120+3126T>C single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305832] ChrX:154542910 [GRCh38]
ChrX:153771125 [GRCh37]
ChrX:Xq28		 benign
NM_001360016.2(G6PD):c.107T>C (p.Ile36Thr) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305764] ChrX:154546049 [GRCh38]
ChrX:153774264 [GRCh37]
ChrX:Xq28		 benign
NM_001360016.2(G6PD):c.7G>A (p.Glu3Lys) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002305793] ChrX:154546149 [GRCh38]
ChrX:153774364 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.1402C>T (p.Leu468=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003095382] ChrX:154532243 [GRCh38]
ChrX:153760458 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.348C>T (p.Ala116=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003014262] ChrX:154535305 [GRCh38]
ChrX:153763520 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.121-5C>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003073609] ChrX:154536183 [GRCh38]
ChrX:153764398 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.753T>C (p.Asp251=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002751246] ChrX:154534052 [GRCh38]
ChrX:153762267 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1458-7T>A single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003076524] ChrX:154532097 [GRCh38]
ChrX:153760312 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1197C>T (p.Ala399=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003075208] ChrX:154532657 [GRCh38]
ChrX:153760872 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.120+3667_120+3668del deletion Inborn genetic diseases [RCV002751706] ChrX:154542368..154542369 [GRCh38]
ChrX:153770583..153770584 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.575G>A (p.Arg192His) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003076370] ChrX:154534407 [GRCh38]
ChrX:153762622 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.210T>C (p.Tyr70=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002995168] ChrX:154535994 [GRCh38]
ChrX:153764209 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1364+17G>A single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002976001] ChrX:154532369 [GRCh38]
ChrX:153760584 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.924C>T (p.Tyr308=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003080488] ChrX:154533069 [GRCh38]
ChrX:153761284 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.559A>G (p.Ile187Val) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002662975] ChrX:154534423 [GRCh38]
ChrX:153762638 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.1365C>T (p.Ser455=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002619433] ChrX:154532280 [GRCh38]
ChrX:153760495 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.88G>A (p.Asp30Asn) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003053692] ChrX:154546068 [GRCh38]
ChrX:153774283 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.915G>A (p.Leu305=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002979059] ChrX:154533078 [GRCh38]
ChrX:153761293 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1371G>A (p.Glu457=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003078401] ChrX:154532274 [GRCh38]
ChrX:153760489 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1134C>T (p.Gly378=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002923486]|G6PD-related condition [RCV003898624] ChrX:154532720 [GRCh38]
ChrX:153760935 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.261C>T (p.Phe87=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003080604] ChrX:154535943 [GRCh38]
ChrX:153764158 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.221G>A (p.Arg74His) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003080622] ChrX:154535983 [GRCh38]
ChrX:153764198 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.584A>G (p.Gln195Arg) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002820823] ChrX:154534398 [GRCh38]
ChrX:153762613 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.1072T>G (p.Cys358Gly) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003040342] ChrX:154532782 [GRCh38]
ChrX:153760997 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.545G>A (p.Arg182Gln) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003058822] ChrX:154534437 [GRCh38]
ChrX:153762652 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.1365-19C>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002711987] ChrX:154532299 [GRCh38]
ChrX:153760514 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.273C>G (p.Thr91=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002766907] ChrX:154535380 [GRCh38]
ChrX:153763595 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.79C>T (p.His27Tyr) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003059144] ChrX:154546077 [GRCh38]
ChrX:153774292 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.159-3C>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003056666] ChrX:154536048 [GRCh38]
ChrX:153764263 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.582C>T (p.Asp194=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003022989] ChrX:154534400 [GRCh38]
ChrX:153762615 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1364+16C>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003056514] ChrX:154532370 [GRCh38]
ChrX:153760585 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1537C>T (p.His513Tyr) single nucleotide variant not provided [RCV002508400] ChrX:154532011 [GRCh38]
ChrX:153760226 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.347C>T (p.Ala116Val) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002918918] ChrX:154535306 [GRCh38]
ChrX:153763521 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.268-13C>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002800961] ChrX:154535398 [GRCh38]
ChrX:153763613 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.771-20C>G single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002805574] ChrX:154533689 [GRCh38]
ChrX:153761904 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1056G>A (p.Val352=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002851898] ChrX:154532798 [GRCh38]
ChrX:153761013 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1364+10A>G single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002766261] ChrX:154532376 [GRCh38]
ChrX:153760591 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.644+6G>A single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002894483] ChrX:154534332 [GRCh38]
ChrX:153762547 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.1293G>A (p.Val431=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002712106] ChrX:154532457 [GRCh38]
ChrX:153760672 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1517C>G (p.Thr506Ser) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003005006] ChrX:154532031 [GRCh38]
ChrX:153760246 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.87G>A (p.Ser29=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002602774] ChrX:154546069 [GRCh38]
ChrX:153774284 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.317C>T (p.Ser106Phe) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003090214] ChrX:154535336 [GRCh38]
ChrX:153763551 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.840C>T (p.Asn280=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002647491] ChrX:154533600 [GRCh38]
ChrX:153761815 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.770+8C>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002716681] ChrX:154534027 [GRCh38]
ChrX:153762242 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.644+10A>G single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003086209] ChrX:154534328 [GRCh38]
ChrX:153762543 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.158+17A>G single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002934028] ChrX:154536124 [GRCh38]
ChrX:153764339 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.433A>T (p.Thr145Ser) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003087172] ChrX:154535220 [GRCh38]
ChrX:153763435 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.1441C>T (p.Pro481Ser) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003062435] ChrX:154532204 [GRCh38]
ChrX:153760419 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.1536C>T (p.Pro512=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003030146] ChrX:154532012 [GRCh38]
ChrX:153760227 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.828C>T (p.Pro276=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002599924] ChrX:154533612 [GRCh38]
ChrX:153761827 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.947G>A (p.Gly316Asp) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003009301] ChrX:154533046 [GRCh38]
ChrX:153761261 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.894G>T (p.Val298=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002933572] ChrX:154533099 [GRCh38]
ChrX:153761314 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.68G>T (p.Gly23Val) single nucleotide variant Inborn genetic diseases [RCV002808224] ChrX:154546088 [GRCh38]
ChrX:153774303 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.1288-11C>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002629757] ChrX:154532473 [GRCh38]
ChrX:153760688 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.255G>A (p.Glu85=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002791909] ChrX:154535949 [GRCh38]
ChrX:153764164 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.804G>A (p.Leu268=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003027396] ChrX:154533636 [GRCh38]
ChrX:153761851 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.864+16C>G single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003065476] ChrX:154533560 [GRCh38]
ChrX:153761775 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.21G>A (p.Leu7=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002578973] ChrX:154546135 [GRCh38]
ChrX:153774350 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.270C>T (p.Ala90=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003049651] ChrX:154535383 [GRCh38]
ChrX:153763598 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.268-24TGTC[2] microsatellite Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002604355] ChrX:154535398..154535401 [GRCh38]
ChrX:153763613..153763616 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.121-4A>C single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002604473] ChrX:154536182 [GRCh38]
ChrX:153764397 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1412A>C (p.Gln471Pro) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003049521] ChrX:154532233 [GRCh38]
ChrX:153760448 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.971A>G (p.Asp324Gly) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003072519] ChrX:154533022 [GRCh38]
ChrX:153761237 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.1052-16C>A single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003052584] ChrX:154532818 [GRCh38]
ChrX:153761033 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.554A>G (p.Asn185Ser) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003070926] ChrX:154534428 [GRCh38]
ChrX:153762643 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.485+12C>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003073342] ChrX:154535156 [GRCh38]
ChrX:153763371 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1146C>G (p.His382Gln) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002943841] ChrX:154532708 [GRCh38]
ChrX:153760923 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.1365-8C>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002611678] ChrX:154532288 [GRCh38]
ChrX:153760503 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1277A>G (p.Asn426Ser) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002633167] ChrX:154532577 [GRCh38]
ChrX:153760792 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.1288-13C>G single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003070806] ChrX:154532475 [GRCh38]
ChrX:153760690 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.424T>G (p.Leu142Val) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV002588121]|G6PD-related condition [RCV003898817] ChrX:154535229 [GRCh38]
ChrX:153763444 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.1487T>G (p.Met496Arg) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003143440] ChrX:154532061 [GRCh38]
ChrX:153760276 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.553A>C (p.Asn185His) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003143442] ChrX:154534429 [GRCh38]
ChrX:153762644 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.909_911del (p.Val304del) deletion Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003143439] ChrX:154533082..154533084 [GRCh38]
ChrX:153761297..153761299 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq27.1-28(chrX:139586015-154774957) copy number gain Syndromic X-linked intellectual disability Lubs type [RCV003214133] ChrX:139586015..154774957 [GRCh37]
ChrX:Xq27.1-28		 pathogenic
NM_001360016.2(G6PD):c.318C>G (p.Ser106=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003622724] ChrX:154535335 [GRCh38]
ChrX:153763550 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.645-10C>G single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003623064] ChrX:154534170 [GRCh38]
ChrX:153762385 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1323C>T (p.Ile441=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003623277] ChrX:154532427 [GRCh38]
ChrX:153760642 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1346A>G (p.Gln449Arg) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003623810] ChrX:154532404 [GRCh38]
ChrX:153760619 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.1020C>T (p.Val340=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003623836] ChrX:154532973 [GRCh38]
ChrX:153761188 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.345A>G (p.Ala115=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003623904] ChrX:154535308 [GRCh38]
ChrX:153763523 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.645-3C>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003873432] ChrX:154534163 [GRCh38]
ChrX:153762378 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.771-13C>A single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003623430] ChrX:154533682 [GRCh38]
ChrX:153761897 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.485+17C>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003623311] ChrX:154535151 [GRCh38]
ChrX:153763366 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1457+15G>A single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003623275] ChrX:154532173 [GRCh38]
ChrX:153760388 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1206C>G (p.Thr402=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003623742] ChrX:154532648 [GRCh38]
ChrX:153760863 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1002C>T (p.Thr334=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003623755] ChrX:154532991 [GRCh38]
ChrX:153761206 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.510G>A (p.Glu170=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003623882] ChrX:154534472 [GRCh38]
ChrX:153762687 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1016C>T (p.Ala339Val) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003623759] ChrX:154532977 [GRCh38]
ChrX:153761192 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.1288-5C>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003623670] ChrX:154532467 [GRCh38]
ChrX:153760682 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1053G>T (p.Gly351=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003623744] ChrX:154532801 [GRCh38]
ChrX:153761016 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.310C>T (p.Arg104Cys) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003623758] ChrX:154535343 [GRCh38]
ChrX:153763558 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.1108A>C (p.Arg370=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003623760] ChrX:154532746 [GRCh38]
ChrX:153760961 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1305C>T (p.Asp435=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003623780] ChrX:154532445 [GRCh38]
ChrX:153760660 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.132C>G (p.Ala44=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003623785] ChrX:154536167 [GRCh38]
ChrX:153764382 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.268-6T>C single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003623842] ChrX:154535391 [GRCh38]
ChrX:153763606 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.485+3A>G single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003623782] ChrX:154535165 [GRCh38]
ChrX:153763380 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.332A>G (p.Gln111Arg) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003623792] ChrX:154535321 [GRCh38]
ChrX:153763536 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.165G>A (p.Leu55=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003623796] ChrX:154536039 [GRCh38]
ChrX:153764254 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.849C>T (p.Asp283=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003623870] ChrX:154533591 [GRCh38]
ChrX:153761806 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.606C>T (p.Tyr202=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003873936] ChrX:154534376 [GRCh38]
ChrX:153762591 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1324C>T (p.Leu442=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003623831] ChrX:154532426 [GRCh38]
ChrX:153760641 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.939T>C (p.Asp313=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003623903] ChrX:154533054 [GRCh38]
ChrX:153761269 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.770+12T>C single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003622598] ChrX:154534023 [GRCh38]
ChrX:153762238 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.112G>A (p.Gly38Ser) single nucleotide variant not specified [RCV003490884] ChrX:154546044 [GRCh38]
ChrX:153774259 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.240C>A (p.Ile80=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003622802] ChrX:154535964 [GRCh38]
ChrX:153764179 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.485+14T>C single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003622373] ChrX:154535154 [GRCh38]
ChrX:153763369 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1288-15C>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003623351] ChrX:154532477 [GRCh38]
ChrX:153760692 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.485+15T>A single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003622792] ChrX:154535153 [GRCh38]
ChrX:153763368 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.159-16T>C single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003623550] ChrX:154536061 [GRCh38]
ChrX:153764276 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.121-19C>A single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003623065] ChrX:154536197 [GRCh38]
ChrX:153764412 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1457+14G>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003622331] ChrX:154532174 [GRCh38]
ChrX:153760389 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.-17G>T single nucleotide variant G6PD-related condition [RCV003411988] ChrX:154546797 [GRCh38]
ChrX:153775012 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.158+16C>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003622396] ChrX:154536125 [GRCh38]
ChrX:153764340 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.314A>C (p.Asn105Thr) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003622402] ChrX:154535339 [GRCh38]
ChrX:153763554 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq28(chrX:153549167-153858492)x2 copy number gain not provided [RCV003483990] ChrX:153549167..153858492 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq28(chrX:153606456-153828848)x2 copy number gain not provided [RCV003483991] ChrX:153606456..153828848 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq28(chrX:152916854-154775938)x2 copy number gain not provided [RCV003483986] ChrX:152916854..154775938 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq28(chrX:153613883-153862775)x3 copy number gain not provided [RCV003485333] ChrX:153613883..153862775 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1 copy number loss not provided [RCV003483929] ChrX:118576752..155233731 [GRCh37]
ChrX:Xq24-28		 pathogenic
GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1 copy number loss not provided [RCV003483930] ChrX:119071609..155233731 [GRCh37]
ChrX:Xq24-28		 pathogenic
GRCh37/hg19 Xq28(chrX:148598351-154943978)x1 copy number loss not provided [RCV003483936] ChrX:148598351..154943978 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.922T>C (p.Tyr308His) single nucleotide variant G6PD-related condition [RCV003427787] ChrX:154533071 [GRCh38]
ChrX:153761286 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.1287+3G>A single nucleotide variant not provided [RCV003436881] ChrX:154532564 [GRCh38]
ChrX:153760779 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.937G>A (p.Asp313Asn) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003511472] ChrX:154533056 [GRCh38]
ChrX:153761271 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.558C>T (p.His186=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003882709] ChrX:154534424 [GRCh38]
ChrX:153762639 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1536C>G (p.Pro512=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003882659] ChrX:154532012 [GRCh38]
ChrX:153760227 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.644+19C>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003882298] ChrX:154534319 [GRCh38]
ChrX:153762534 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.268-12C>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003511109] ChrX:154535397 [GRCh38]
ChrX:153763612 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1364+18G>A single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003510578] ChrX:154532368 [GRCh38]
ChrX:153760583 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.486-10C>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003879580] ChrX:154534506 [GRCh38]
ChrX:153762721 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.1545C>T (p.Leu515=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003509391] ChrX:154532003 [GRCh38]
ChrX:153760218 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.504C>T (p.Ile168=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003509272] ChrX:154534478 [GRCh38]
ChrX:153762693 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1288-17C>G single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003510246] ChrX:154532479 [GRCh38]
ChrX:153760694 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1457+17G>A single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003877205] ChrX:154532171 [GRCh38]
ChrX:153760386 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.73G>A (p.Ala25Thr) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003622307] ChrX:154546083 [GRCh38]
ChrX:153774298 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.687C>T (p.Asn229=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003875977] ChrX:154534118 [GRCh38]
ChrX:153762333 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.501C>T (p.Ile167=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003880024] ChrX:154534481 [GRCh38]
ChrX:153762696 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1354_1358del (p.Phe452fs) deletion Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003509325] ChrX:154532392..154532396 [GRCh38]
ChrX:153760607..153760611 [GRCh37]
ChrX:Xq28		 pathogenic
NM_001360016.2(G6PD):c.120+13C>G single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003623610] ChrX:154546023 [GRCh38]
ChrX:153774238 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.60T>C (p.Leu20=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003623739] ChrX:154546096 [GRCh38]
ChrX:153774311 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.159-17C>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003509369] ChrX:154536062 [GRCh38]
ChrX:153764277 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.418C>T (p.Leu140=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003878346] ChrX:154535235 [GRCh38]
ChrX:153763450 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.84G>T (p.Gln28His) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003511091] ChrX:154546072 [GRCh38]
ChrX:153774287 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.120+14A>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003825231] ChrX:154546022 [GRCh38]
ChrX:153774237 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.505G>A (p.Val169Met) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003878486] ChrX:154534477 [GRCh38]
ChrX:153762692 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.1326G>A (p.Leu442=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003509326] ChrX:154532424 [GRCh38]
ChrX:153760639 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.486-6C>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003510202] ChrX:154534502 [GRCh38]
ChrX:153762717 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.645-14G>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003510513] ChrX:154534174 [GRCh38]
ChrX:153762389 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.169C>T (p.Arg57Trp) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003509093] ChrX:154536035 [GRCh38]
ChrX:153764250 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.1288-14T>A single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003511257] ChrX:154532476 [GRCh38]
ChrX:153760691 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1396A>G (p.Thr466Ala) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003509425] ChrX:154532249 [GRCh38]
ChrX:153760464 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.546G>C (p.Arg182=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003511028] ChrX:154534436 [GRCh38]
ChrX:153762651 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.464A>C (p.His155Pro) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003510628] ChrX:154535189 [GRCh38]
ChrX:153763404 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.1288-16A>C single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003510707] ChrX:154532478 [GRCh38]
ChrX:153760693 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.41G>T (p.Gly14Val) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003878300] ChrX:154546115 [GRCh38]
ChrX:153774330 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.1287+7T>C single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003833176] ChrX:154532560 [GRCh38]
ChrX:153760775 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1218C>T (p.Thr406=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003817473] ChrX:154532636 [GRCh38]
ChrX:153760851 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1457+37_1458-10dup duplication Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003855455] ChrX:154532099..154532100 [GRCh38]
ChrX:153760314..153760315 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.864+13C>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003812001] ChrX:154533563 [GRCh38]
ChrX:153761778 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.909G>A (p.Val303=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003837241] ChrX:154533084 [GRCh38]
ChrX:153761299 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1470G>C (p.Thr490=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003822900] ChrX:154532078 [GRCh38]
ChrX:153760293 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1496T>A (p.Val499Glu) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003859790] ChrX:154532052 [GRCh38]
ChrX:153760267 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.159-11C>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003863984] ChrX:154536056 [GRCh38]
ChrX:153764271 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1365-8C>A single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003622276] ChrX:154532288 [GRCh38]
ChrX:153760503 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.277G>A (p.Glu93Lys) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003840823] ChrX:154535376 [GRCh38]
ChrX:153763591 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.1491G>A (p.Lys497=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003621935] ChrX:154532057 [GRCh38]
ChrX:153760272 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1457+11G>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003621735] ChrX:154532177 [GRCh38]
ChrX:153760392 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.26G>A (p.Arg9Gln) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003841919] ChrX:154546130 [GRCh38]
ChrX:153774345 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.693C>T (p.Ala231=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003621899] ChrX:154534112 [GRCh38]
ChrX:153762327 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.771-13C>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003867134] ChrX:154533682 [GRCh38]
ChrX:153761897 [GRCh37]
ChrX:Xq28		 likely benign
GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731) copy number loss not specified [RCV003986202] ChrX:103405294..155233731 [GRCh37]
ChrX:Xq22.2-28		 pathogenic
GRCh37/hg19 Xq24-28(chrX:119395676-154930047) copy number loss not specified [RCV003986220] ChrX:119395676..154930047 [GRCh37]
ChrX:Xq24-28		 pathogenic
NM_001360016.2(G6PD):c.585G>A (p.Gln195=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003871623] ChrX:154534397 [GRCh38]
ChrX:153762612 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.865-18C>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003862257] ChrX:154533146 [GRCh38]
ChrX:153761361 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.346G>C (p.Ala116Pro) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003622074] ChrX:154535307 [GRCh38]
ChrX:153763522 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.644+7C>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003868522] ChrX:154534331 [GRCh38]
ChrX:153762546 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.407G>A (p.Arg136His) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003868842] ChrX:154535246 [GRCh38]
ChrX:153763461 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_001360016.2(G6PD):c.864+17A>G single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003621885] ChrX:154533559 [GRCh38]
ChrX:153761774 [GRCh37]
ChrX:Xq28		 likely benign
GRCh37/hg19 Xq28(chrX:153714300-153868484) copy number gain not specified [RCV003986228] ChrX:153714300..153868484 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.833CCA[1] (p.Thr279del) microsatellite not provided [RCV003736479] ChrX:154533602..154533604 [GRCh38]
ChrX:153761817..153761819 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.1446T>C (p.Tyr482=) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003622253] ChrX:154532199 [GRCh38]
ChrX:153760414 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1457+11G>C single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003847682] ChrX:154532177 [GRCh38]
ChrX:153760392 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1457+9A>T single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003853510] ChrX:154532179 [GRCh38]
ChrX:153760394 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.1458-7T>C single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003622069] ChrX:154532097 [GRCh38]
ChrX:153760312 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.97A>G (p.Ile33Val) single nucleotide variant not provided [RCV003884024] ChrX:154546059 [GRCh38]
ChrX:153774274 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.981G>A (p.Thr327=) single nucleotide variant G6PD-related condition [RCV003894570] ChrX:154533012 [GRCh38]
ChrX:153761227 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.546G>A (p.Arg182=) single nucleotide variant G6PD-related condition [RCV003949675] ChrX:154534436 [GRCh38]
ChrX:153762651 [GRCh37]
ChrX:Xq28		 likely benign
NC_000023.11:g.154518193C>T single nucleotide variant not provided [RCV003886896] ChrX:154518193 [GRCh38]
ChrX:153746517 [GRCh37]
ChrX:Xq28		 likely benign
NM_000402.4(G6PD):c.10C>G (p.Arg4Gly) single nucleotide variant not provided [RCV003887209] ChrX:154546861 [GRCh38]
ChrX:153775076 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_001360016.2(G6PD):c.-9+9C>A single nucleotide variant G6PD-related condition [RCV003904630] ChrX:154546780 [GRCh38]
ChrX:153774995 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.864+40G>A single nucleotide variant G6PD-related condition [RCV003902178] ChrX:154533536 [GRCh38]
ChrX:153761751 [GRCh37]
ChrX:Xq28		 likely benign
NM_001360016.2(G6PD):c.-14G>A single nucleotide variant G6PD-related condition [RCV003936834] ChrX:154546794 [GRCh38]
ChrX:153775009 [GRCh37]
ChrX:Xq28		 benign
GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3 copy number gain not provided [RCV003885530] ChrX:67292994..155240074 [GRCh37]
ChrX:Xq12-28		 pathogenic
NM_001360016.2(G6PD):c.50G>A (p.Arg17Gln) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003143438] ChrX:154546106 [GRCh38]
ChrX:153774321 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
NM_001360016.2(G6PD):c.574C>T (p.Arg192Cys) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000646700] ChrX:154534408 [GRCh38]
ChrX:153762623 [GRCh37]
ChrX:Xq28		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR1-1hsa-miR-1Mirecordsexternal_infoNANA14697198

Predicted Target Of
Summary Value
Count of predictions:3550
Count of miRNA genes:980
Interacting mature miRNAs:1223
Transcripts:ENST00000369620, ENST00000393562, ENST00000393564, ENST00000433845, ENST00000439227, ENST00000440967, ENST00000488434, ENST00000489497, ENST00000490651, ENST00000497281
Prediction methods:Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
GDB:452834  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,760,915 - 153,761,185UniSTSGRCh37
Build 36X153,414,109 - 153,414,379RGDNCBI36
CeleraX153,921,963 - 153,922,233RGD
Cytogenetic MapXq28UniSTS
HuRefX142,337,411 - 142,337,681UniSTS
GDB:176313  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,762,687 - 153,762,821UniSTSGRCh37
Build 36X153,415,881 - 153,416,015RGDNCBI36
CeleraX153,923,735 - 153,923,869RGD
Cytogenetic MapXq28UniSTS
HuRefX142,339,183 - 142,339,317UniSTS
GDB:176314  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,760,717 - 153,761,401UniSTSGRCh37
Build 36X153,413,911 - 153,414,595RGDNCBI36
CeleraX153,921,765 - 153,922,449RGD
Cytogenetic MapXq28UniSTS
HuRefX142,337,213 - 142,337,897UniSTS
GDB:182509  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,761,126 - 153,761,920UniSTSGRCh37
Build 36X153,414,320 - 153,415,114RGDNCBI36
CeleraX153,922,174 - 153,922,968RGD
Cytogenetic MapXq28UniSTS
HuRefX142,337,622 - 142,338,416UniSTS
GDB:512991  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,763,351 - 153,763,506UniSTSGRCh37
Build 36X153,416,545 - 153,416,700RGDNCBI36
CeleraX153,924,399 - 153,924,554RGD
Cytogenetic MapXq28UniSTS
G65806  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,774,266 - 153,774,923UniSTSGRCh37
Build 36X153,427,460 - 153,428,117RGDNCBI36
CeleraX153,935,315 - 153,935,972RGD
Cytogenetic MapXq28UniSTS
HuRefX142,350,694 - 142,351,351UniSTS
G65807  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,776,225 - 153,777,182UniSTSGRCh37
Build 36X153,429,419 - 153,430,376RGDNCBI36
CeleraX153,937,274 - 153,938,231RGD
Cytogenetic MapXq28UniSTS
HuRefX142,352,733 - 142,353,690UniSTS
G65810  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,773,193 - 153,774,189UniSTSGRCh37
Build 36X153,426,387 - 153,427,383RGDNCBI36
CeleraX153,934,242 - 153,935,238RGD
Cytogenetic MapXq28UniSTS
HuRefX142,349,619 - 142,350,617UniSTS
PMC97176P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,760,169 - 153,760,835UniSTSGRCh37
Build 36X153,413,363 - 153,414,029RGDNCBI36
CeleraX153,921,217 - 153,921,883RGD
Cytogenetic MapXq28UniSTS
HuRefX142,336,665 - 142,337,331UniSTS
ECD04749  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,768,880 - 153,769,635UniSTSGRCh37
Build 36X153,422,074 - 153,422,829RGDNCBI36
CeleraX153,929,929 - 153,930,684RGD
Cytogenetic MapXq28UniSTS
HuRefX142,345,306 - 142,346,061UniSTS
ECD05526  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,759,226 - 153,759,959UniSTSGRCh37
Build 36X153,412,420 - 153,413,153RGDNCBI36
CeleraX153,920,274 - 153,921,007RGD
Cytogenetic MapXq28UniSTS
HuRefX142,335,722 - 142,336,455UniSTS
ECD06379  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,763,213 - 153,763,923UniSTSGRCh37
Build 36X153,416,407 - 153,417,117RGDNCBI36
CeleraX153,924,261 - 153,924,971RGD
Cytogenetic MapXq28UniSTS
HuRefX142,339,709 - 142,340,419UniSTS
ECD06900  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,760,015 - 153,760,711UniSTSGRCh37
Build 36X153,413,209 - 153,413,905RGDNCBI36
CeleraX153,921,063 - 153,921,759RGD
Cytogenetic MapXq28UniSTS
HuRefX142,336,511 - 142,337,207UniSTS
ECD07052  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,763,996 - 153,764,688UniSTSGRCh37
Build 36X153,417,190 - 153,417,882RGDNCBI36
CeleraX153,925,044 - 153,925,736RGD
Cytogenetic MapXq28UniSTS
HuRefX142,340,492 - 142,341,183UniSTS
ECD07298  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,761,690 - 153,762,375UniSTSGRCh37
Build 36X153,414,884 - 153,415,569RGDNCBI36
CeleraX153,922,738 - 153,923,423RGD
Cytogenetic MapXq28UniSTS
HuRefX142,338,186 - 142,338,871UniSTS
ECD07480  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,762,440 - 153,763,120UniSTSGRCh37
Build 36X153,415,634 - 153,416,314RGDNCBI36
CeleraX153,923,488 - 153,924,168RGD
Cytogenetic MapXq28UniSTS
HuRefX142,338,936 - 142,339,616UniSTS
ECD09693  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,774,095 - 153,774,717UniSTSGRCh37
Build 36X153,427,289 - 153,427,911RGDNCBI36
CeleraX153,935,144 - 153,935,766RGD
Cytogenetic MapXq28UniSTS
HuRefX142,350,523 - 142,351,145UniSTS
ECD10049  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,760,752 - 153,761,364UniSTSGRCh37
Build 36X153,413,946 - 153,414,558RGDNCBI36
CeleraX153,921,800 - 153,922,412RGD
Cytogenetic MapXq28UniSTS
HuRefX142,337,248 - 142,337,860UniSTS
ECD10306  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,770,992 - 153,771,597UniSTSGRCh37
Build 36X153,424,186 - 153,424,791RGDNCBI36
CeleraX153,932,041 - 153,932,646RGD
Cytogenetic MapXq28UniSTS
HuRefX142,347,418 - 142,348,023UniSTS
ECD10822  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,775,804 - 153,776,394UniSTSGRCh37
Build 36X153,428,998 - 153,429,588RGDNCBI36
CeleraX153,936,853 - 153,937,443RGD
Cytogenetic MapXq28UniSTS
HuRefX142,352,312 - 142,352,902UniSTS
ECD12483  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,773,216 - 153,773,758UniSTSGRCh37
Build 36X153,426,410 - 153,426,952RGDNCBI36
CeleraX153,934,265 - 153,934,807RGD
Cytogenetic MapXq28UniSTS
HuRefX142,349,642 - 142,350,186UniSTS
ECD16402  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,769,966 - 153,770,408UniSTSGRCh37
Build 36X153,423,160 - 153,423,602RGDNCBI36
CeleraX153,931,015 - 153,931,457RGD
Cytogenetic MapXq28UniSTS
HuRefX142,346,392 - 142,346,834UniSTS
ECD17262  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,775,287 - 153,775,693UniSTSGRCh37
Build 36X153,428,481 - 153,428,887RGDNCBI36
CeleraX153,936,336 - 153,936,742RGD
Cytogenetic MapXq28UniSTS
ECD20333  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,770,543 - 153,770,831UniSTSGRCh37
Build 36X153,423,737 - 153,424,025RGDNCBI36
CeleraX153,931,592 - 153,931,880RGD
Cytogenetic MapXq28UniSTS
HuRefX142,346,969 - 142,347,257UniSTS
ECD21671  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,772,855 - 153,773,098UniSTSGRCh37
Build 36X153,426,049 - 153,426,292RGDNCBI36
CeleraX153,933,904 - 153,934,147RGD
Cytogenetic MapXq28UniSTS
HuRefX142,349,281 - 142,349,524UniSTS
ECD22814  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,771,686 - 153,771,893UniSTSGRCh37
Build 36X153,424,880 - 153,425,087RGDNCBI36
CeleraX153,932,735 - 153,932,942RGD
Cytogenetic MapXq28UniSTS
HuRefX142,348,112 - 142,348,319UniSTS
ECD23372  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,769,697 - 153,769,888UniSTSGRCh37
Build 36X153,422,891 - 153,423,082RGDNCBI36
CeleraX153,930,746 - 153,930,937RGD
Cytogenetic MapXq28UniSTS
HuRefX142,346,123 - 142,346,314UniSTS
REN89938  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,759,304 - 153,759,563UniSTSGRCh37
Build 36X153,412,498 - 153,412,757RGDNCBI36
CeleraX153,920,352 - 153,920,611RGD
Cytogenetic MapXq28UniSTS
HuRefX142,335,800 - 142,336,059UniSTS
REN89939  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,759,544 - 153,759,796UniSTSGRCh37
Build 36X153,412,738 - 153,412,990RGDNCBI36
CeleraX153,920,592 - 153,920,844RGD
Cytogenetic MapXq28UniSTS
HuRefX142,336,040 - 142,336,292UniSTS
REN89940  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,759,766 - 153,760,035UniSTSGRCh37
Build 36X153,412,960 - 153,413,229RGDNCBI36
CeleraX153,920,814 - 153,921,083RGD
Cytogenetic MapXq28UniSTS
HuRefX142,336,262 - 142,336,531UniSTS
REN89941  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,760,015 - 153,760,261UniSTSGRCh37
Build 36X153,413,209 - 153,413,455RGDNCBI36
CeleraX153,921,063 - 153,921,309RGD
Cytogenetic MapXq28UniSTS
HuRefX142,336,511 - 142,336,757UniSTS
REN89942  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,760,250 - 153,760,518UniSTSGRCh37
Build 36X153,413,444 - 153,413,712RGDNCBI36
CeleraX153,921,298 - 153,921,566RGD
Cytogenetic MapXq28UniSTS
HuRefX142,336,746 - 142,337,014UniSTS
REN89943  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,760,489 - 153,760,714UniSTSGRCh37
Build 36X153,413,683 - 153,413,908RGDNCBI36
CeleraX153,921,537 - 153,921,762RGD
Cytogenetic MapXq28UniSTS
HuRefX142,336,985 - 142,337,210UniSTS
REN89944  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,760,682 - 153,760,935UniSTSGRCh37
Build 36X153,413,876 - 153,414,129RGDNCBI36
CeleraX153,921,730 - 153,921,983RGD
Cytogenetic MapXq28UniSTS
HuRefX142,337,178 - 142,337,431UniSTS
REN89945  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,760,911 - 153,761,174UniSTSGRCh37
Build 36X153,414,105 - 153,414,368RGDNCBI36
CeleraX153,921,959 - 153,922,222RGD
Cytogenetic MapXq28UniSTS
HuRefX142,337,407 - 142,337,670UniSTS
REN89946  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,761,151 - 153,761,394UniSTSGRCh37
Build 36X153,414,345 - 153,414,588RGDNCBI36
CeleraX153,922,199 - 153,922,442RGD
Cytogenetic MapXq28UniSTS
HuRefX142,337,647 - 142,337,890UniSTS
REN89947  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,761,379 - 153,761,631UniSTSGRCh37
Build 36X153,414,573 - 153,414,825RGDNCBI36
CeleraX153,922,427 - 153,922,679RGD
Cytogenetic MapXq28UniSTS
HuRefX142,337,875 - 142,338,127UniSTS
REN89948  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,761,609 - 153,761,865UniSTSGRCh37
Build 36X153,414,803 - 153,415,059RGDNCBI36
CeleraX153,922,657 - 153,922,913RGD
Cytogenetic MapXq28UniSTS
HuRefX142,338,105 - 142,338,361UniSTS
REN89949  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,761,855 - 153,762,105UniSTSGRCh37
Build 36X153,415,049 - 153,415,299RGDNCBI36
CeleraX153,922,903 - 153,923,153RGD
Cytogenetic MapXq28UniSTS
HuRefX142,338,351 - 142,338,601UniSTS
REN89950  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,762,060 - 153,762,328UniSTSGRCh37
Build 36X153,415,254 - 153,415,522RGDNCBI36
CeleraX153,923,108 - 153,923,376RGD
Cytogenetic MapXq28UniSTS
HuRefX142,338,556 - 142,338,824UniSTS
REN89951  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,762,318 - 153,762,579UniSTSGRCh37
Build 36X153,415,512 - 153,415,773RGDNCBI36
CeleraX153,923,366 - 153,923,627RGD
Cytogenetic MapXq28UniSTS
HuRefX142,338,814 - 142,339,075UniSTS
REN89952  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,762,558 - 153,762,782UniSTSGRCh37
Build 36X153,415,752 - 153,415,976RGDNCBI36
CeleraX153,923,606 - 153,923,830RGD
Cytogenetic MapXq28UniSTS
HuRefX142,339,054 - 142,339,278UniSTS
REN89953  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,762,767 - 153,763,008UniSTSGRCh37
Build 36X153,415,961 - 153,416,202RGDNCBI36
CeleraX153,923,815 - 153,924,056RGD
Cytogenetic MapXq28UniSTS
HuRefX142,339,263 - 142,339,504UniSTS
REN89954  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,762,990 - 153,763,240UniSTSGRCh37
Build 36X153,416,184 - 153,416,434RGDNCBI36
CeleraX153,924,038 - 153,924,288RGD
Cytogenetic MapXq28UniSTS
HuRefX142,339,486 - 142,339,736UniSTS
REN89955  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,763,219 - 153,763,467UniSTSGRCh37
Build 36X153,416,413 - 153,416,661RGDNCBI36
CeleraX153,924,267 - 153,924,515RGD
Cytogenetic MapXq28UniSTS
HuRefX142,339,715 - 142,339,963UniSTS
REN89956  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,763,447 - 153,763,696UniSTSGRCh37
Build 36X153,416,641 - 153,416,890RGDNCBI36
CeleraX153,924,495 - 153,924,744RGD
Cytogenetic MapXq28UniSTS
HuRefX142,339,943 - 142,340,192UniSTS
REN89957  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,763,680 - 153,763,926UniSTSGRCh37
Build 36X153,416,874 - 153,417,120RGDNCBI36
CeleraX153,924,728 - 153,924,974RGD
Cytogenetic MapXq28UniSTS
HuRefX142,340,176 - 142,340,422UniSTS
REN89958  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,763,921 - 153,764,175UniSTSGRCh37
Build 36X153,417,115 - 153,417,369RGDNCBI36
CeleraX153,924,969 - 153,925,223RGD
Cytogenetic MapXq28UniSTS
HuRefX142,340,417 - 142,340,671UniSTS
REN89959  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,764,156 - 153,764,428UniSTSGRCh37
Build 36X153,417,350 - 153,417,622RGDNCBI36
CeleraX153,925,204 - 153,925,476RGD
Cytogenetic MapXq28UniSTS
HuRefX142,340,652 - 142,340,923UniSTS
REN89960  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,764,406 - 153,764,661UniSTSGRCh37
Build 36X153,417,600 - 153,417,855RGDNCBI36
CeleraX153,925,454 - 153,925,709RGD
Cytogenetic MapXq28UniSTS
HuRefX142,340,901 - 142,341,156UniSTS
REN89961  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,764,526 - 153,764,756UniSTSGRCh37
Build 36X153,417,720 - 153,417,950RGDNCBI36
CeleraX153,925,574 - 153,925,804RGD
Cytogenetic MapXq28UniSTS
HuRefX142,341,021 - 142,341,251UniSTS
REN89962  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,765,842 - 153,766,099UniSTSGRCh37
Build 36X153,419,036 - 153,419,293RGDNCBI36
CeleraX153,926,890 - 153,927,147RGD
Cytogenetic MapXq28UniSTS
HuRefX142,342,337 - 142,342,594UniSTS
REN89963  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,765,983 - 153,766,207UniSTSGRCh37
Build 36X153,419,177 - 153,419,401RGDNCBI36
CeleraX153,927,031 - 153,927,255RGD
Cytogenetic MapXq28UniSTS
HuRefX142,342,478 - 142,342,702UniSTS
REN89964  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,766,501 - 153,766,743UniSTSGRCh37
Build 36X153,419,695 - 153,419,937RGDNCBI36
CeleraX153,927,550 - 153,927,792RGD
Cytogenetic MapXq28UniSTS
HuRefX142,342,997 - 142,343,239UniSTS
REN89965  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,766,640 - 153,766,866UniSTSGRCh37
Build 36X153,419,834 - 153,420,060RGDNCBI36
CeleraX153,927,689 - 153,927,915RGD
Cytogenetic MapXq28UniSTS
HuRefX142,343,136 - 142,343,362UniSTS
REN89966  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,766,761 - 153,767,009UniSTSGRCh37
Build 36X153,419,955 - 153,420,203RGDNCBI36
CeleraX153,927,810 - 153,928,058RGD
Cytogenetic MapXq28UniSTS
HuRefX142,343,257 - 142,343,505UniSTS
REN89967  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,766,991 - 153,767,246UniSTSGRCh37
Build 36X153,420,185 - 153,420,440RGDNCBI36
CeleraX153,928,040 - 153,928,295RGD
Cytogenetic MapXq28UniSTS
HuRefX142,343,487 - 142,343,742UniSTS
REN89968  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,767,238 - 153,767,486UniSTSGRCh37
Build 36X153,420,432 - 153,420,680RGDNCBI36
CeleraX153,928,287 - 153,928,535RGD
Cytogenetic MapXq28UniSTS
HuRefX142,343,734 - 142,343,982UniSTS
REN89969  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,767,458 - 153,767,719UniSTSGRCh37
Build 36X153,420,652 - 153,420,913RGDNCBI36
CeleraX153,928,507 - 153,928,768RGD
Cytogenetic MapXq28UniSTS
HuRefX142,343,954 - 142,344,215UniSTS
REN89970  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,767,716 - 153,767,940UniSTSGRCh37
Build 36X153,420,910 - 153,421,134RGDNCBI36
CeleraX153,928,765 - 153,928,989RGD
Cytogenetic MapXq28UniSTS
HuRefX142,344,212 - 142,344,436UniSTS
REN89971  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,768,603 - 153,768,853UniSTSGRCh37
Build 36X153,421,797 - 153,422,047RGDNCBI36
CeleraX153,929,652 - 153,929,902RGD
Cytogenetic MapXq28UniSTS
HuRefX142,345,029 - 142,345,279UniSTS
REN89972  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,768,834 - 153,769,095UniSTSGRCh37
Build 36X153,422,028 - 153,422,289RGDNCBI36
CeleraX153,929,883 - 153,930,144RGD
Cytogenetic MapXq28UniSTS
HuRefX142,345,260 - 142,345,521UniSTS
REN89973  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,769,071 - 153,769,321UniSTSGRCh37
Build 36X153,422,265 - 153,422,515RGDNCBI36
CeleraX153,930,120 - 153,930,370RGD
Cytogenetic MapXq28UniSTS
HuRefX142,345,497 - 142,345,747UniSTS
REN89974  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,769,308 - 153,769,534UniSTSGRCh37
Build 36X153,422,502 - 153,422,728RGDNCBI36
CeleraX153,930,357 - 153,930,583RGD
Cytogenetic MapXq28UniSTS
HuRefX142,345,734 - 142,345,960UniSTS
REN89975  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,769,528 - 153,769,767UniSTSGRCh37
Build 36X153,422,722 - 153,422,961RGDNCBI36
CeleraX153,930,577 - 153,930,816RGD
Cytogenetic MapXq28UniSTS
HuRefX142,345,954 - 142,346,193UniSTS
REN89976  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,769,740 - 153,769,989UniSTSGRCh37
Build 36X153,422,934 - 153,423,183RGDNCBI36
CeleraX153,930,789 - 153,931,038RGD
Cytogenetic MapXq28UniSTS
HuRefX142,346,166 - 142,346,415UniSTS
REN89977  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,769,955 - 153,770,182UniSTSGRCh37
Build 36X153,423,149 - 153,423,376RGDNCBI36
CeleraX153,931,004 - 153,931,231RGD
Cytogenetic MapXq28UniSTS
HuRefX142,346,381 - 142,346,608UniSTS
REN89978  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,770,150 - 153,770,399UniSTSGRCh37
Build 36X153,423,344 - 153,423,593RGDNCBI36
CeleraX153,931,199 - 153,931,448RGD
Cytogenetic MapXq28UniSTS
HuRefX142,346,576 - 142,346,825UniSTS
REN89979  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,770,383 - 153,770,640UniSTSGRCh37
Build 36X153,423,577 - 153,423,834RGDNCBI36
CeleraX153,931,432 - 153,931,689RGD
Cytogenetic MapXq28UniSTS
HuRefX142,346,809 - 142,347,066UniSTS
REN89980  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,770,605 - 153,770,838UniSTSGRCh37
Build 36X153,423,799 - 153,424,032RGDNCBI36
CeleraX153,931,654 - 153,931,887RGD
Cytogenetic MapXq28UniSTS
HuRefX142,347,031 - 142,347,264UniSTS
REN89981  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,770,805 - 153,771,063UniSTSGRCh37
Build 36X153,423,999 - 153,424,257RGDNCBI36
CeleraX153,931,854 - 153,932,112RGD
Cytogenetic MapXq28UniSTS
HuRefX142,347,231 - 142,347,489UniSTS
REN89982  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,771,030 - 153,771,259UniSTSGRCh37
Build 36X153,424,224 - 153,424,453RGDNCBI36
CeleraX153,932,079 - 153,932,308RGD
Cytogenetic MapXq28UniSTS
HuRefX142,347,456 - 142,347,685UniSTS
REN89983  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,771,222 - 153,771,484UniSTSGRCh37
Build 36X153,424,416 - 153,424,678RGDNCBI36
CeleraX153,932,271 - 153,932,533RGD
Cytogenetic MapXq28UniSTS
HuRefX142,347,648 - 142,347,910UniSTS
REN89984  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,771,461 - 153,771,710UniSTSGRCh37
Build 36X153,424,655 - 153,424,904RGDNCBI36
CeleraX153,932,510 - 153,932,759RGD
Cytogenetic MapXq28UniSTS
HuRefX142,347,887 - 142,348,136UniSTS
REN89985  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,771,678 - 153,771,907UniSTSGRCh37
Build 36X153,424,872 - 153,425,101RGDNCBI36
CeleraX153,932,727 - 153,932,956RGD
Cytogenetic MapXq28UniSTS
HuRefX142,348,104 - 142,348,333UniSTS
REN89986  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,771,845 - 153,772,074UniSTSGRCh37
Build 36X153,425,039 - 153,425,268RGDNCBI36
CeleraX153,932,894 - 153,933,123RGD
Cytogenetic MapXq28UniSTS
HuRefX142,348,271 - 142,348,500UniSTS
REN89987  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,772,807 - 153,773,047UniSTSGRCh37
Build 36X153,426,001 - 153,426,241RGDNCBI36
CeleraX153,933,856 - 153,934,096RGD
Cytogenetic MapXq28UniSTS
HuRefX142,349,233 - 142,349,473UniSTS
REN89988  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,773,039 - 153,773,280UniSTSGRCh37
Build 36X153,426,233 - 153,426,474RGDNCBI36
CeleraX153,934,088 - 153,934,329RGD
Cytogenetic MapXq28UniSTS
HuRefX142,349,465 - 142,349,706UniSTS
REN89989  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,773,265 - 153,773,525UniSTSGRCh37
Build 36X153,426,459 - 153,426,719RGDNCBI36
CeleraX153,934,314 - 153,934,574RGD
Cytogenetic MapXq28UniSTS
HuRefX142,349,691 - 142,349,953UniSTS
REN89990  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,773,494 - 153,773,732UniSTSGRCh37
Build 36X153,426,688 - 153,426,926RGDNCBI36
CeleraX153,934,543 - 153,934,781RGD
Cytogenetic MapXq28UniSTS
HuRefX142,349,922 - 142,350,160UniSTS
REN89991  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,773,536 - 153,773,760UniSTSGRCh37
Build 36X153,426,730 - 153,426,954RGDNCBI36
CeleraX153,934,585 - 153,934,809RGD
Cytogenetic MapXq28UniSTS
HuRefX142,349,964 - 142,350,188UniSTS
REN89992  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,774,093 - 153,774,317UniSTSGRCh37
Build 36X153,427,287 - 153,427,511RGDNCBI36
CeleraX153,935,142 - 153,935,366RGD
Cytogenetic MapXq28UniSTS
HuRefX142,350,521 - 142,350,745UniSTS
REN89993  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,774,275 - 153,774,549UniSTSGRCh37
Build 36X153,427,469 - 153,427,743RGDNCBI36
CeleraX153,935,324 - 153,935,598RGD
Cytogenetic MapXq28UniSTS
HuRefX142,350,703 - 142,350,977UniSTS
REN89994  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,774,526 - 153,774,771UniSTSGRCh37
Build 36X153,427,720 - 153,427,965RGDNCBI36
CeleraX153,935,575 - 153,935,820RGD
Cytogenetic MapXq28UniSTS
HuRefX142,350,954 - 142,351,199UniSTS
REN89995  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,774,751 - 153,775,018UniSTSGRCh37
Build 36X153,427,945 - 153,428,212RGDNCBI36
CeleraX153,935,800 - 153,936,067RGD
Cytogenetic MapXq28UniSTS
HuRefX142,351,179 - 142,351,446UniSTS
REN89996  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,774,837 - 153,775,063UniSTSGRCh37
Build 36X153,428,031 - 153,428,257RGDNCBI36
CeleraX153,935,886 - 153,936,112RGD
Cytogenetic MapXq28UniSTS
HuRefX142,351,265 - 142,351,491UniSTS
REN89997  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,775,040 - 153,775,306UniSTSGRCh37
Build 36X153,428,234 - 153,428,500RGDNCBI36
CeleraX153,936,089 - 153,936,355RGD
Cytogenetic MapXq28UniSTS
REN89998  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,775,329 - 153,775,566UniSTSGRCh37
Build 36X153,428,523 - 153,428,760RGDNCBI36
CeleraX153,936,378 - 153,936,615RGD
Cytogenetic MapXq28UniSTS
REN89999  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,775,540 - 153,775,764UniSTSGRCh37
Build 36X153,428,734 - 153,428,958RGDNCBI36
CeleraX153,936,589 - 153,936,813RGD
Cytogenetic MapXq28UniSTS
HuRefX142,352,048 - 142,352,272UniSTS
REN90000  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,775,746 - 153,775,990UniSTSGRCh37
Build 36X153,428,940 - 153,429,184RGDNCBI36
CeleraX153,936,795 - 153,937,039RGD
Cytogenetic MapXq28UniSTS
HuRefX142,352,254 - 142,352,498UniSTS
REN90001  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,775,947 - 153,776,208UniSTSGRCh37
Build 36X153,429,141 - 153,429,402RGDNCBI36
CeleraX153,936,996 - 153,937,257RGD
Cytogenetic MapXq28UniSTS
HuRefX142,352,455 - 142,352,716UniSTS
REN90002  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,776,182 - 153,776,428UniSTSGRCh37
Build 36X153,429,376 - 153,429,622RGDNCBI36
CeleraX153,937,231 - 153,937,477RGD
Cytogenetic MapXq28UniSTS
HuRefX142,352,690 - 142,352,936UniSTS
REN90003  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,776,409 - 153,776,661UniSTSGRCh37
Build 36X153,429,603 - 153,429,855RGDNCBI36
CeleraX153,937,458 - 153,937,710RGD
Cytogenetic MapXq28UniSTS
HuRefX142,352,917 - 142,353,169UniSTS
REN90004  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,776,638 - 153,776,876UniSTSGRCh37
Build 36X153,429,832 - 153,430,070RGDNCBI36
CeleraX153,937,687 - 153,937,925RGD
Cytogenetic MapXq28UniSTS
HuRefX142,353,146 - 142,353,384UniSTS
REN90005  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,776,848 - 153,777,117UniSTSGRCh37
Build 36X153,430,042 - 153,430,311RGDNCBI36
CeleraX153,937,897 - 153,938,166RGD
Cytogenetic MapXq28UniSTS
HuRefX142,353,356 - 142,353,625UniSTS
REN90006  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,776,969 - 153,777,193UniSTSGRCh37
Build 36X153,430,163 - 153,430,387RGDNCBI36
CeleraX153,938,018 - 153,938,242RGD
Cytogenetic MapXq28UniSTS
HuRefX142,353,477 - 142,353,701UniSTS
stSG604119  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,760,411 - 153,761,862UniSTSGRCh37
Build 36X153,413,605 - 153,415,056RGDNCBI36
CeleraX153,921,459 - 153,922,910RGD
Cytogenetic MapXq28UniSTS
HuRefX142,336,907 - 142,338,358UniSTS
stSG604120  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,761,988 - 153,763,090UniSTSGRCh37
Build 36X153,415,182 - 153,416,284RGDNCBI36
CeleraX153,923,036 - 153,924,138RGD
HuRefX142,338,484 - 142,339,586UniSTS
stSG604121  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,763,071 - 153,764,177UniSTSGRCh37
Build 36X153,416,265 - 153,417,371RGDNCBI36
CeleraX153,924,119 - 153,925,225RGD
HuRefX142,339,567 - 142,340,673UniSTS
stSG604122  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,763,634 - 153,764,659UniSTSGRCh37
Build 36X153,416,828 - 153,417,853RGDNCBI36
CeleraX153,924,682 - 153,925,707RGD
HuRefX142,340,130 - 142,341,154UniSTS
stSG604123  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,764,669 - 153,765,865UniSTSGRCh37
Build 36X153,417,863 - 153,419,059RGDNCBI36
CeleraX153,925,717 - 153,926,913RGD
HuRefX142,341,164 - 142,342,360UniSTS
stSG604124  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,765,848 - 153,767,299UniSTSGRCh37
Build 36X153,419,042 - 153,420,493RGDNCBI36
CeleraX153,926,896 - 153,928,348RGD
HuRefX142,342,343 - 142,343,795UniSTS
stSG604125  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,767,280 - 153,767,565UniSTSGRCh37
Build 36X153,420,474 - 153,420,759RGDNCBI36
CeleraX153,928,329 - 153,928,614RGD
HuRefX142,343,776 - 142,344,061UniSTS
stSG604126  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,767,701 - 153,768,891UniSTSGRCh37
Build 36X153,420,895 - 153,422,085RGDNCBI36
CeleraX153,928,750 - 153,929,940RGD
HuRefX142,344,197 - 142,345,317UniSTS
stSG604127  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,769,018 - 153,770,162UniSTSGRCh37
Build 36X153,422,212 - 153,423,356RGDNCBI36
CeleraX153,930,067 - 153,931,211RGD
HuRefX142,345,444 - 142,346,588UniSTS
stSG604128  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,770,143 - 153,771,391UniSTSGRCh37
Build 36X153,423,337 - 153,424,585RGDNCBI36
CeleraX153,931,192 - 153,932,440RGD
HuRefX142,346,569 - 142,347,817UniSTS
stSG604129  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,771,389 - 153,771,570UniSTSGRCh37
Build 36X153,424,583 - 153,424,764RGDNCBI36
CeleraX153,932,438 - 153,932,619RGD
HuRefX142,347,815 - 142,347,996UniSTS
stSG604130  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,771,578 - 153,772,874UniSTSGRCh37
Build 36X153,424,772 - 153,426,068RGDNCBI36
CeleraX153,932,627 - 153,933,923RGD
HuRefX142,348,004 - 142,349,300UniSTS
stSG604131  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,772,877 - 153,774,260UniSTSGRCh37
Build 36X153,426,071 - 153,427,454RGDNCBI36
CeleraX153,933,926 - 153,935,309RGD
HuRefX142,349,303 - 142,350,688UniSTS
GDB:177106  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,760,618 - 153,761,343UniSTSGRCh37
CeleraX153,921,666 - 153,922,391UniSTS
Cytogenetic MapXq28UniSTS
HuRefX142,337,114 - 142,337,839UniSTS
GDB:182510  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq28UniSTS
HuRefX142,338,252 - 142,338,594UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1 3 3 5 1 3 14
Medium 2395 2475 1387 286 1932 127 3578 1036 3399 365 1443 1594 170 1204 2011 3
Low 42 515 336 334 19 333 778 1160 334 53 11 3 5 1 777 2 1
Below cutoff 1 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001042351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001360016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB376963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC244090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF277315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH003054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL560686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU589629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC394789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ832761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ832762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ832763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ832764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ832765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ832766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ839546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ873520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF190463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB718764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB719134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB869941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC892663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC895939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC898862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC899672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC903214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC908383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC915319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC927350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY078785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ763323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L44140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M19866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M21248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M23423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M27940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M61694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF796522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF796523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF796524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF796525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF796526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK281402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MN316615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT640143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON843698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON843699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON843700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON843701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S58359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S64462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X03674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X55448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000369620   ⟹   ENSP00000358633
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,532,000 - 154,547,572 (-)Ensembl
RefSeq Acc Id: ENST00000393562   ⟹   ENSP00000377192
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,531,391 - 154,546,846 (-)Ensembl
RefSeq Acc Id: ENST00000393564   ⟹   ENSP00000377194
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,531,390 - 154,547,572 (-)Ensembl
RefSeq Acc Id: ENST00000433845   ⟹   ENSP00000394690
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,534,036 - 154,546,832 (-)Ensembl
RefSeq Acc Id: ENST00000439227   ⟹   ENSP00000395599
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,531,390 - 154,546,955 (-)Ensembl
RefSeq Acc Id: ENST00000440967   ⟹   ENSP00000400648
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,533,034 - 154,547,557 (-)Ensembl
RefSeq Acc Id: ENST00000488434
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,535,726 - 154,546,109 (-)Ensembl
RefSeq Acc Id: ENST00000489497
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,533,317 - 154,534,193 (-)Ensembl
RefSeq Acc Id: ENST00000490651
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,532,083 - 154,533,074 (-)Ensembl
RefSeq Acc Id: ENST00000497281
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,535,075 - 154,546,109 (-)Ensembl
RefSeq Acc Id: ENST00000567614
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,517,840 - 154,518,631 (-)Ensembl
RefSeq Acc Id: ENST00000647501
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,545,751 - 154,546,846 (-)Ensembl
RefSeq Acc Id: ENST00000696420   ⟹   ENSP00000512615
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,517,825 - 154,546,846 (-)Ensembl
RefSeq Acc Id: ENST00000696421   ⟹   ENSP00000512616
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,517,830 - 154,546,846 (-)Ensembl
RefSeq Acc Id: ENST00000696422   ⟹   ENSP00000512617
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,531,391 - 154,536,178 (-)Ensembl
RefSeq Acc Id: ENST00000696423   ⟹   ENSP00000512618
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,531,391 - 154,536,178 (-)Ensembl
RefSeq Acc Id: ENST00000696424   ⟹   ENSP00000512619
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,531,391 - 154,536,178 (-)Ensembl
RefSeq Acc Id: ENST00000696425   ⟹   ENSP00000512620
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,531,391 - 154,546,844 (-)Ensembl
RefSeq Acc Id: ENST00000696426   ⟹   ENSP00000512621
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,531,391 - 154,546,898 (-)Ensembl
RefSeq Acc Id: ENST00000696427   ⟹   ENSP00000512622
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,531,392 - 154,546,826 (-)Ensembl
RefSeq Acc Id: ENST00000696428   ⟹   ENSP00000512623
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,531,398 - 154,546,961 (-)Ensembl
RefSeq Acc Id: ENST00000696429   ⟹   ENSP00000512624
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,531,398 - 154,547,226 (-)Ensembl
RefSeq Acc Id: ENST00000696430   ⟹   ENSP00000512625
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,531,398 - 154,547,321 (-)Ensembl
RefSeq Acc Id: ENST00000696431   ⟹   ENSP00000512626
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,535,242 - 154,546,788 (-)Ensembl
RefSeq Acc Id: NM_000402   ⟹   NP_000393
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,531,390 - 154,547,018 (-)NCBI
GRCh37X153,759,606 - 153,775,796 (-)NCBI
Build 36X153,412,800 - 153,428,427 (-)NCBI Archive
HuRefX142,336,101 - 142,352,309 (-)NCBI
CHM1_1X153,671,374 - 153,687,002 (-)NCBI
T2T-CHM13v2.0X152,767,773 - 152,783,401 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001042351   ⟹   NP_001035810
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,531,391 - 154,547,569 (-)NCBI
GRCh37X153,759,606 - 153,775,796 (-)NCBI
Build 36X153,412,800 - 153,428,981 (-)NCBI Archive
HuRefX142,336,101 - 142,352,309 (-)NCBI
CHM1_1X153,671,374 - 153,687,570 (-)NCBI
T2T-CHM13v2.0X152,767,774 - 152,783,952 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001360016   ⟹   NP_001346945
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,531,391 - 154,546,846 (-)NCBI
T2T-CHM13v2.0X152,767,774 - 152,783,229 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000393 (Get FASTA)   NCBI Sequence Viewer  
  NP_001035810 (Get FASTA)   NCBI Sequence Viewer  
  NP_001346945 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA52500 (Get FASTA)   NCBI Sequence Viewer  
  AAA52501 (Get FASTA)   NCBI Sequence Viewer  
  AAA52504 (Get FASTA)   NCBI Sequence Viewer  
  AAA92653 (Get FASTA)   NCBI Sequence Viewer  
  AAB20299 (Get FASTA)   NCBI Sequence Viewer  
  AAB26169 (Get FASTA)   NCBI Sequence Viewer  
  AAB59390 (Get FASTA)   NCBI Sequence Viewer  
  AAH00337 (Get FASTA)   NCBI Sequence Viewer  
  AAL27011 (Get FASTA)   NCBI Sequence Viewer  
  AAN76367 (Get FASTA)   NCBI Sequence Viewer  
  AAN76368 (Get FASTA)   NCBI Sequence Viewer  
  AAN76369 (Get FASTA)   NCBI Sequence Viewer  
  AAN76370 (Get FASTA)   NCBI Sequence Viewer  
  AAN76371 (Get FASTA)   NCBI Sequence Viewer  
  AAN76372 (Get FASTA)   NCBI Sequence Viewer  
  AAN76373 (Get FASTA)   NCBI Sequence Viewer  
  AAN76374 (Get FASTA)   NCBI Sequence Viewer  
  AAN76375 (Get FASTA)   NCBI Sequence Viewer  
  AAN76376 (Get FASTA)   NCBI Sequence Viewer  
  AAN76377 (Get FASTA)   NCBI Sequence Viewer  
  AAN76378 (Get FASTA)   NCBI Sequence Viewer  
  AAN76379 (Get FASTA)   NCBI Sequence Viewer  
  AAN76380 (Get FASTA)   NCBI Sequence Viewer  
  AAN76381 (Get FASTA)   NCBI Sequence Viewer  
  AAN76382 (Get FASTA)   NCBI Sequence Viewer  
  AAN76383 (Get FASTA)   NCBI Sequence Viewer  
  AAN76384 (Get FASTA)   NCBI Sequence Viewer  
  AAN76385 (Get FASTA)   NCBI Sequence Viewer  
  AAN76386 (Get FASTA)   NCBI Sequence Viewer  
  AAN76387 (Get FASTA)   NCBI Sequence Viewer  
  AAN76388 (Get FASTA)   NCBI Sequence Viewer  
  AAN76389 (Get FASTA)   NCBI Sequence Viewer  
  AAN76390 (Get FASTA)   NCBI Sequence Viewer  
  AAN76391 (Get FASTA)   NCBI Sequence Viewer  
  AAN76392 (Get FASTA)   NCBI Sequence Viewer  
  AAN76393 (Get FASTA)   NCBI Sequence Viewer  
  AAN76394 (Get FASTA)   NCBI Sequence Viewer  
  AAN76395 (Get FASTA)   NCBI Sequence Viewer  
  AAN76396 (Get FASTA)   NCBI Sequence Viewer  
  AAN76397 (Get FASTA)   NCBI Sequence Viewer  
  AAN76398 (Get FASTA)   NCBI Sequence Viewer  
  AAN76399 (Get FASTA)   NCBI Sequence Viewer  
  AAN76400 (Get FASTA)   NCBI Sequence Viewer  
  AAN76401 (Get FASTA)   NCBI Sequence Viewer  
  AAN76402 (Get FASTA)   NCBI Sequence Viewer  
  AAN76403 (Get FASTA)   NCBI Sequence Viewer  
  AAN76404 (Get FASTA)   NCBI Sequence Viewer  
  AAN76405 (Get FASTA)   NCBI Sequence Viewer  
  AAN76406 (Get FASTA)   NCBI Sequence Viewer  
  AAN76407 (Get FASTA)   NCBI Sequence Viewer  
  AAN76408 (Get FASTA)   NCBI Sequence Viewer  
  AAN76409 (Get FASTA)   NCBI Sequence Viewer  
  AAN76410 (Get FASTA)   NCBI Sequence Viewer  
  AAN76411 (Get FASTA)   NCBI Sequence Viewer  
  AAN76412 (Get FASTA)   NCBI Sequence Viewer  
  AAN76413 (Get FASTA)   NCBI Sequence Viewer  
  ABB90566 (Get FASTA)   NCBI Sequence Viewer  
  ABC25732 (Get FASTA)   NCBI Sequence Viewer  
  ABC25737 (Get FASTA)   NCBI Sequence Viewer  
  ABC25742 (Get FASTA)   NCBI Sequence Viewer  
  ABC25747 (Get FASTA)   NCBI Sequence Viewer  
  ABC25752 (Get FASTA)   NCBI Sequence Viewer  
  ABC25757 (Get FASTA)   NCBI Sequence Viewer  
  ABC25761 (Get FASTA)   NCBI Sequence Viewer  
  ABC25766 (Get FASTA)   NCBI Sequence Viewer  
  ABC25771 (Get FASTA)   NCBI Sequence Viewer  
  ABC25776 (Get FASTA)   NCBI Sequence Viewer  
  ABC25781 (Get FASTA)   NCBI Sequence Viewer  
  ABC25786 (Get FASTA)   NCBI Sequence Viewer  
  ABC25791 (Get FASTA)   NCBI Sequence Viewer  
  ABC25796 (Get FASTA)   NCBI Sequence Viewer  
  ABC25801 (Get FASTA)   NCBI Sequence Viewer  
  ABC25806 (Get FASTA)   NCBI Sequence Viewer  
  ABC25811 (Get FASTA)   NCBI Sequence Viewer  
  ABC25816 (Get FASTA)   NCBI Sequence Viewer  
  ABC25821 (Get FASTA)   NCBI Sequence Viewer  
  ABC25826 (Get FASTA)   NCBI Sequence Viewer  
  ABC25831 (Get FASTA)   NCBI Sequence Viewer  
  ABC25836 (Get FASTA)   NCBI Sequence Viewer  
  ABC25841 (Get FASTA)   NCBI Sequence Viewer  
  ABC25846 (Get FASTA)   NCBI Sequence Viewer  
  ABC25851 (Get FASTA)   NCBI Sequence Viewer  
  ABC25856 (Get FASTA)   NCBI Sequence Viewer  
  ABC25861 (Get FASTA)   NCBI Sequence Viewer  
  ABC25866 (Get FASTA)   NCBI Sequence Viewer  
  ABC25871 (Get FASTA)   NCBI Sequence Viewer  
  ABC25876 (Get FASTA)   NCBI Sequence Viewer  
  ABC25881 (Get FASTA)   NCBI Sequence Viewer  
  ABC25886 (Get FASTA)   NCBI Sequence Viewer  
  ABC25891 (Get FASTA)   NCBI Sequence Viewer  
  ABC25896 (Get FASTA)   NCBI Sequence Viewer  
  ABC25901 (Get FASTA)   NCBI Sequence Viewer  
  ABC25906 (Get FASTA)   NCBI Sequence Viewer  
  ABC25911 (Get FASTA)   NCBI Sequence Viewer  
  ABC25916 (Get FASTA)   NCBI Sequence Viewer  
  ABC25921 (Get FASTA)   NCBI Sequence Viewer  
  ABC25926 (Get FASTA)   NCBI Sequence Viewer  
  ABC25931 (Get FASTA)   NCBI Sequence Viewer  
  ABC25936 (Get FASTA)   NCBI Sequence Viewer  
  ABC25941 (Get FASTA)   NCBI Sequence Viewer  
  ABC25946 (Get FASTA)   NCBI Sequence Viewer  
  ABC25951 (Get FASTA)   NCBI Sequence Viewer  
  ABC25956 (Get FASTA)   NCBI Sequence Viewer  
  ABC25961 (Get FASTA)   NCBI Sequence Viewer  
  ABC25966 (Get FASTA)   NCBI Sequence Viewer  
  ABC25971 (Get FASTA)   NCBI Sequence Viewer  
  ABC25976 (Get FASTA)   NCBI Sequence Viewer  
  ABC25981 (Get FASTA)   NCBI Sequence Viewer  
  ABH03564 (Get FASTA)   NCBI Sequence Viewer  
  ABH03565 (Get FASTA)   NCBI Sequence Viewer  
  ABH03566 (Get FASTA)   NCBI Sequence Viewer  
  ABH03567 (Get FASTA)   NCBI Sequence Viewer  
  ABH03568 (Get FASTA)   NCBI Sequence Viewer  
  ABH03569 (Get FASTA)   NCBI Sequence Viewer  
  ABI23563 (Get FASTA)   NCBI Sequence Viewer  
  ABM66444 (Get FASTA)   NCBI Sequence Viewer  
  ADO22353 (Get FASTA)   NCBI Sequence Viewer  
  AFK75975 (Get FASTA)   NCBI Sequence Viewer  
  ATX64241 (Get FASTA)   NCBI Sequence Viewer  
  ATX64242 (Get FASTA)   NCBI Sequence Viewer  
  ATX64243 (Get FASTA)   NCBI Sequence Viewer  
  ATX64244 (Get FASTA)   NCBI Sequence Viewer  
  ATX64245 (Get FASTA)   NCBI Sequence Viewer  
  BAF84993 (Get FASTA)   NCBI Sequence Viewer  
  BAG63669 (Get FASTA)   NCBI Sequence Viewer  
  BAH01719 (Get FASTA)   NCBI Sequence Viewer  
  CAA27309 (Get FASTA)   NCBI Sequence Viewer  
  CAA39089 (Get FASTA)   NCBI Sequence Viewer  
  CAS91929 (Get FASTA)   NCBI Sequence Viewer  
  CAS92163 (Get FASTA)   NCBI Sequence Viewer  
  CBF59097 (Get FASTA)   NCBI Sequence Viewer  
  CBN60799 (Get FASTA)   NCBI Sequence Viewer  
  CBN62406 (Get FASTA)   NCBI Sequence Viewer  
  CBN63835 (Get FASTA)   NCBI Sequence Viewer  
  CBN64257 (Get FASTA)   NCBI Sequence Viewer  
  CBN66061 (Get FASTA)   NCBI Sequence Viewer  
  CBN68546 (Get FASTA)   NCBI Sequence Viewer  
  CBN71894 (Get FASTA)   NCBI Sequence Viewer  
  CBU84341 (Get FASTA)   NCBI Sequence Viewer  
  EAW72682 (Get FASTA)   NCBI Sequence Viewer  
  EAW72683 (Get FASTA)   NCBI Sequence Viewer  
  EAW72684 (Get FASTA)   NCBI Sequence Viewer  
  EAW72685 (Get FASTA)   NCBI Sequence Viewer  
  EAW72686 (Get FASTA)   NCBI Sequence Viewer  
  EAW72687 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000358633.2
  ENSP00000377192
  ENSP00000377192.3
  ENSP00000377194
  ENSP00000377194.2
  ENSP00000394690.1
  ENSP00000395599.2
  ENSP00000400648.1
  ENSP00000512615.1
  ENSP00000512616.1
  ENSP00000512617.1
  ENSP00000512618.1
  ENSP00000512619.1
  ENSP00000512620.1
  ENSP00000512621.1
  ENSP00000512622.1
  ENSP00000512623.1
  ENSP00000512624.1
  ENSP00000512625.1
  ENSP00000512626.1
GenBank Protein P11413 (Get FASTA)   NCBI Sequence Viewer  
  QCS27824 (Get FASTA)   NCBI Sequence Viewer  
  QIQ28216 (Get FASTA)   NCBI Sequence Viewer  
  QZA86926 (Get FASTA)   NCBI Sequence Viewer  
  WDK97531 (Get FASTA)   NCBI Sequence Viewer  
  WDK97532 (Get FASTA)   NCBI Sequence Viewer  
  WDK97533 (Get FASTA)   NCBI Sequence Viewer  
  WDK97534 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001035810   ⟸   NM_001042351
- Peptide Label: isoform b
- UniProtKB: Q8IUA6 (UniProtKB/Swiss-Prot),   Q8IU88 (UniProtKB/Swiss-Prot),   Q8IU70 (UniProtKB/Swiss-Prot),   Q16765 (UniProtKB/Swiss-Prot),   Q16000 (UniProtKB/Swiss-Prot),   D3DWX9 (UniProtKB/Swiss-Prot),   Q96PQ2 (UniProtKB/Swiss-Prot),   P11413 (UniProtKB/Swiss-Prot),   A0A384NL00 (UniProtKB/TrEMBL),   A8K8D9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_000393   ⟸   NM_000402
- Peptide Label: isoform a
- UniProtKB: A8K8D9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001346945   ⟸   NM_001360016
- Peptide Label: isoform b
- UniProtKB: Q8IUA6 (UniProtKB/Swiss-Prot),   Q8IU88 (UniProtKB/Swiss-Prot),   Q8IU70 (UniProtKB/Swiss-Prot),   Q16765 (UniProtKB/Swiss-Prot),   Q16000 (UniProtKB/Swiss-Prot),   P11413 (UniProtKB/Swiss-Prot),   D3DWX9 (UniProtKB/Swiss-Prot),   Q96PQ2 (UniProtKB/Swiss-Prot),   A0A384NL00 (UniProtKB/TrEMBL),   A8K8D9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000395599   ⟸   ENST00000439227
RefSeq Acc Id: ENSP00000400648   ⟸   ENST00000440967
RefSeq Acc Id: ENSP00000377194   ⟸   ENST00000393564
RefSeq Acc Id: ENSP00000377192   ⟸   ENST00000393562
RefSeq Acc Id: ENSP00000394690   ⟸   ENST00000433845
RefSeq Acc Id: ENSP00000358633   ⟸   ENST00000369620
RefSeq Acc Id: ENSP00000512624   ⟸   ENST00000696429
RefSeq Acc Id: ENSP00000512620   ⟸   ENST00000696425
RefSeq Acc Id: ENSP00000512622   ⟸   ENST00000696427
RefSeq Acc Id: ENSP00000512623   ⟸   ENST00000696428
RefSeq Acc Id: ENSP00000512617   ⟸   ENST00000696422
RefSeq Acc Id: ENSP00000512619   ⟸   ENST00000696424
RefSeq Acc Id: ENSP00000512621   ⟸   ENST00000696426
RefSeq Acc Id: ENSP00000512626   ⟸   ENST00000696431
RefSeq Acc Id: ENSP00000512625   ⟸   ENST00000696430
RefSeq Acc Id: ENSP00000512618   ⟸   ENST00000696423
RefSeq Acc Id: ENSP00000512615   ⟸   ENST00000696420
RefSeq Acc Id: ENSP00000512616   ⟸   ENST00000696421
Protein Domains
Glucose-6-phosphate dehydrogenase C-terminal   Glucose-6-phosphate dehydrogenase NAD-binding

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P11413-F1-model_v2 AlphaFold P11413 1-515 view protein structure

Promoters
RGD ID:6808867
Promoter ID:HG_KWN:68673
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000061173
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,413,986 - 153,414,852 (-)MPROMDB
RGD ID:6808868
Promoter ID:HG_KWN:68674
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000061172
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,415,641 - 153,416,537 (-)MPROMDB
RGD ID:6814843
Promoter ID:HG_XEF:8807
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:NM_001017312,   NM_001086550,   NM_069728,   NM_078687,   NM_167676
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,417,486 - 153,417,986 (-)MPROMDB
RGD ID:6808869
Promoter ID:HG_KWN:68678
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_2Hour,   Lymphoblastoid
Transcripts:OTTHUMT00000061167,   OTTHUMT00000061168
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,427,611 - 153,428,187 (-)MPROMDB
RGD ID:6808744
Promoter ID:HG_KWN:68679
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000369620,   NM_001042351,   OTTHUMT00000061165,   OTTHUMT00000061166,   OTTHUMT00000061169,   OTTHUMT00000061171
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,428,206 - 153,429,647 (-)MPROMDB
RGD ID:6849836
Promoter ID:EP30014
Type:single initiation site
Name:HS_G6PD
Description:Glucose-6-phosphate dehydrogenase.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Tissues & Cell Lines:housekeeping gene
Experiment Methods:Nuclease protection with homologous sequence ladder; Primer extension with homologous sequence ladder
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,428,259 - 153,428,319EPD
RGD ID:13628648
Promoter ID:EPDNEW_H29562
Type:initiation region
Name:G6PD_1
Description:glucose-6-phosphate dehydrogenase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29563  EPDNEW_H29565  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,546,844 - 154,546,904EPDNEW
RGD ID:13628650
Promoter ID:EPDNEW_H29563
Type:initiation region
Name:G6PD_3
Description:glucose-6-phosphate dehydrogenase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29562  EPDNEW_H29565  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,547,223 - 154,547,283EPDNEW
RGD ID:13628654
Promoter ID:EPDNEW_H29565
Type:initiation region
Name:G6PD_2
Description:glucose-6-phosphate dehydrogenase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29562  EPDNEW_H29563  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,547,563 - 154,547,623EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4057 AgrOrtholog
COSMIC G6PD COSMIC
Ensembl Genes ENSG00000160211 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000369620.6 UniProtKB/Swiss-Prot
  ENST00000393562 ENTREZGENE
  ENST00000393562.10 UniProtKB/Swiss-Prot
  ENST00000393564 ENTREZGENE
  ENST00000393564.7 UniProtKB/Swiss-Prot
  ENST00000433845.1 UniProtKB/TrEMBL
  ENST00000439227.6 UniProtKB/TrEMBL
  ENST00000440967.5 UniProtKB/TrEMBL
  ENST00000696420.1 UniProtKB/TrEMBL
  ENST00000696421.1 UniProtKB/TrEMBL
  ENST00000696422.1 UniProtKB/TrEMBL
  ENST00000696423.1 UniProtKB/TrEMBL
  ENST00000696424.1 UniProtKB/TrEMBL
  ENST00000696425.1 UniProtKB/TrEMBL
  ENST00000696426.1 UniProtKB/TrEMBL
  ENST00000696427.1 UniProtKB/TrEMBL
  ENST00000696428.1 UniProtKB/TrEMBL
  ENST00000696429.1 UniProtKB/Swiss-Prot
  ENST00000696430.1 UniProtKB/Swiss-Prot
  ENST00000696431.1 UniProtKB/TrEMBL
Gene3D-CATH NAD(P)-binding Rossmann-like Domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000160211 GTEx
HGNC ID HGNC:4057 ENTREZGENE
Human Proteome Map G6PD Human Proteome Map
InterPro G6P_DH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  G6P_DH_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  G6P_DH_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  G6P_DH_NAD-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD(P)-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2539 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2539 ENTREZGENE
OMIM 305900 OMIM
PANTHER GLUCOSE-6-PHOSPHATE 1-DEHYDROGENASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR23429 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam G6PD_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  G6PD_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB G6PD RGD, PharmGKB
PIRSF G6PD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS G6PDHDRGNASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE G6P_DEHYDROGENASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Glyceraldehyde-3-phosphate dehydrogenase-like, C-terminal domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF51735 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2H4QGB2_HUMAN UniProtKB/TrEMBL
  A0A2H4QGB6_HUMAN UniProtKB/TrEMBL
  A0A2H4QGB8_HUMAN UniProtKB/TrEMBL
  A0A384NL00 ENTREZGENE, UniProtKB/TrEMBL
  A0A6G9IW12_HUMAN UniProtKB/TrEMBL
  A0A8G1M3Q3_HUMAN UniProtKB/TrEMBL
  A0A8Q3SIN6_HUMAN UniProtKB/TrEMBL
  A0A8Q3SIS5_HUMAN UniProtKB/TrEMBL
  A0A8Q3SJB9_HUMAN UniProtKB/TrEMBL
  A0A8Q3WL80_HUMAN UniProtKB/TrEMBL
  A0A8Q3WL83_HUMAN UniProtKB/TrEMBL
  A0A8Q3WL90_HUMAN UniProtKB/TrEMBL
  A0A8Q3WL93_HUMAN UniProtKB/TrEMBL
  A0A8Q3WL95_HUMAN UniProtKB/TrEMBL
  A0A8Q3WLB9_HUMAN UniProtKB/TrEMBL
  A0A8Q3WLT0_HUMAN UniProtKB/TrEMBL
  A2IBT6_HUMAN UniProtKB/TrEMBL
  A7IZZ3_HUMAN UniProtKB/TrEMBL
  A8K8D9 ENTREZGENE, UniProtKB/TrEMBL
  B6ZHS6_HUMAN UniProtKB/TrEMBL
  D3DWX9 ENTREZGENE
  E7EM57_HUMAN UniProtKB/TrEMBL
  E7EUI8_HUMAN UniProtKB/TrEMBL
  E9PD92_HUMAN UniProtKB/TrEMBL
  G6PD_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q0PHS1_HUMAN UniProtKB/TrEMBL
  Q0PHS2_HUMAN UniProtKB/TrEMBL
  Q0PHS3_HUMAN UniProtKB/TrEMBL
  Q0PHS4_HUMAN UniProtKB/TrEMBL
  Q0PHS5_HUMAN UniProtKB/TrEMBL
  Q0PHS6_HUMAN UniProtKB/TrEMBL
  Q16000 ENTREZGENE
  Q16765 ENTREZGENE
  Q2Q9B7_HUMAN UniProtKB/TrEMBL
  Q2Q9H2_HUMAN UniProtKB/TrEMBL
  Q2VF42_HUMAN UniProtKB/TrEMBL
  Q8IU70 ENTREZGENE
  Q8IU88 ENTREZGENE
  Q8IUA6 ENTREZGENE
  Q96PQ2 ENTREZGENE
UniProt Secondary D3DWX9 UniProtKB/Swiss-Prot
  Q16000 UniProtKB/Swiss-Prot
  Q16765 UniProtKB/Swiss-Prot
  Q8IU70 UniProtKB/Swiss-Prot
  Q8IU88 UniProtKB/Swiss-Prot
  Q8IUA6 UniProtKB/Swiss-Prot
  Q96PQ2 UniProtKB/Swiss-Prot