ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1) - Rat Genome Database

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Gene: ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1) Homo sapiens
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Symbol: ENPP1
Name: ectonucleotide pyrophosphatase/phosphodiesterase 1
RGD ID: 1351327
HGNC Page HGNC:3356
Description: Enables several functions, including ATP binding activity; hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides; and phosphoric ester hydrolase activity. Involved in several processes, including inorganic diphosphate transport; intracellular phosphate ion homeostasis; and nucleoside phosphate metabolic process. Located in cell surface and extracellular space. Is active in plasma membrane. Implicated in several diseases, including arterial calcification of infancy; end stage renal disease; obesity; ossification of the posterior longitudinal ligament of spine; and type 2 diabetes mellitus. Biomarker of glioblastoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: alkaline phosphodiesterase 1; alkaline phosphodiesterase I; ARHR2; COLED; E-NPP 1; ectonucleotide pyrophosphatase/phosphodiesterase family member 1; Ly-41 antigen; M6S1; membrane component chromosome 6 surface marker 1; membrane component, chromosome 6, surface marker 1; NPP1; NPPase; NPPS; nucleotide diphosphatase; nucleotide pyrophosphatase; PC-1; PCA1; PDNP1; phosphodiesterase I/nucleotide pyrophosphatase 1; plasma-cell membrane glycoprotein 1; plasma-cell membrane glycoprotein PC-1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Candidate Gene For: BW142_H BW141_H SLEP15_H GLUCO126_H SLEP22_H INSUL39_H BW514_H INSUL37_H BW513_H INSUL30_H GLUCO128_H
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386131,808,020 - 131,895,155 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6131,808,016 - 131,895,155 (+)EnsemblGRCh38hg38GRCh38
GRCh376132,129,160 - 132,216,295 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366132,170,853 - 132,254,043 (+)NCBINCBI36Build 36hg18NCBI36
Build 346132,170,852 - 132,254,043NCBI
Celera6132,876,272 - 132,963,416 (+)NCBICelera
Cytogenetic Map6q23.2NCBI
HuRef6129,704,724 - 129,791,900 (+)NCBIHuRef
CHM1_16132,392,926 - 132,480,050 (+)NCBICHM1_1
T2T-CHM13v2.06133,002,962 - 133,090,181 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
1H-[1,2,4]oxadiazolo[4,3-a]quinoxalin-1-one  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-tribromophenol  (EXP)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-palmitoylglycerol  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (ISO)
allopurinol  (ISO)
alloxanthine  (ISO)
amiodarone  (ISO)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (ISO)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beta-naphthoflavone  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP,ISO)
buta-1,3-diene  (ISO)
butanal  (EXP)
caffeine  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chromium atom  (EXP)
clofibrate  (ISO)
cobalt dichloride  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
Cuprizon  (ISO)
cyclosporin A  (EXP)
D-glucose  (ISO)
decabromodiphenyl ether  (EXP)
dexamethasone  (EXP)
dibutyl phthalate  (ISO)
diclofenac  (EXP)
dipyridamole  (ISO)
dorsomorphin  (EXP)
elemental selenium  (ISO)
endosulfan  (ISO)
fipronil  (ISO)
flavonoids  (ISO)
folic acid  (EXP,ISO)
folpet  (ISO)
genistein  (EXP,ISO)
glucose  (ISO)
glycerol 2-phosphate  (EXP)
glyphosate  (ISO)
hydroquinone O-beta-D-glucopyranoside  (EXP)
indometacin  (EXP,ISO)
inulin  (ISO)
isoprenaline  (ISO)
L-ethionine  (ISO)
leflunomide  (EXP)
levamisole  (EXP)
maneb  (ISO)
manganese atom  (EXP)
manganese(0)  (EXP)
manganese(II) chloride  (EXP)
mercury atom  (EXP)
mercury(0)  (EXP)
methamphetamine  (ISO)
methidathion  (ISO)
methotrexate  (ISO)
methylmercury chloride  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (EXP)
nefazodone  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
nitroprusside  (ISO)
omeprazole  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
paracetamol  (EXP)
paraquat  (ISO)
parathion  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (EXP)
progesterone  (EXP)
quercetin  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
selenium atom  (ISO)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP)
sodium chloride  (ISO)
sotorasib  (EXP)
sunitinib  (EXP)
tauroursodeoxycholic acid  (ISO)
testosterone  (EXP)
testosterone enanthate  (EXP)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trametinib  (EXP)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
trovafloxacin  (ISO)
valproic acid  (EXP)
venlafaxine hydrochloride  (ISO)
vinclozolin  (ISO)
vorinostat  (EXP)
warfarin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
3'-phosphoadenosine 5'-phosphosulfate metabolic process  (IDA)
adipose tissue development  (ISO)
adult locomotory behavior  (ISO)
adult walking behavior  (ISO)
animal organ development  (IEA)
aorta development  (ISO)
apoptotic process involved in development  (ISO)
artery development  (ISO)
articular cartilage development  (ISO)
ATP metabolic process  (IBA,IDA,ISS)
axon regeneration  (ISO)
B-1 B cell homeostasis  (ISO)
biomineral tissue development  (IEA)
bone development  (ISO)
bone growth  (ISO)
bone mineralization  (IDA,ISO)
bone mineralization involved in bone maturation  (ISO)
bone remodeling  (ISO)
bone resorption  (ISO)
bone trabecula formation  (ISO)
calcium ion homeostasis  (ISO)
cartilage development  (ISO)
cell morphogenesis  (ISO)
cell population proliferation  (ISO)
cellular homeostasis  (ISO)
cellular response to acidic pH  (ISO)
cellular response to cAMP  (ISO)
cellular response to insulin stimulus  (IDA)
cellular response to mechanical stimulus  (ISO)
cellular response to sodium phosphate  (ISO)
cellular response to transforming growth factor beta stimulus  (ISO)
cementum mineralization  (ISO)
central nervous system myelination  (ISO)
cerebellum development  (ISO)
cerebral cortex development  (ISO)
collagen-activated signaling pathway  (ISO)
D-glucose import  (ISO)
defense response to protozoan  (ISO)
determination of adult lifespan  (ISO)
diphosphate metabolic process  (ISO)
endochondral bone morphogenesis  (ISO)
endochondral ossification  (ISO)
establishment of localization in cell  (ISO)
fat cell differentiation  (ISO)
fat pad development  (ISO)
fatty acid metabolic process  (ISO)
fibroblast growth factor receptor signaling pathway  (ISO)
gene expression  (IDA,ISO)
generation of precursor metabolites and energy  (IDA)
glucose homeostasis  (ISO)
glycolytic process  (ISO)
heart development  (ISO)
hematopoietic stem cell migration to bone marrow  (ISO)
hippocampus development  (ISO)
hormone metabolic process  (ISO)
immune response  (IEA)
inflammatory response to antigenic stimulus  (ISO)
inhibition of non-skeletal tissue mineralization  (ISO)
inorganic diphosphate transport  (IBA,IDA)
intracellular phosphate ion homeostasis  (IDA)
kidney development  (ISO)
leukocyte activation involved in inflammatory response  (ISO)
ligamentous ossification  (ISO)
liver development  (ISO)
long-term synaptic potentiation  (ISO)
macrophage differentiation  (ISO)
magnesium ion homeostasis  (ISO)
melanocyte differentiation  (IMP)
microglia differentiation  (ISO)
microglial cell migration  (ISO)
middle ear morphogenesis  (ISO)
mitochondrion organization  (ISO)
morphogenesis of an epithelium  (ISO)
mRNA transcription by RNA polymerase II  (ISO)
mucus secretion  (ISO)
multicellular organism growth  (ISO)
muscle cell cellular homeostasis  (ISO)
negative regulation of bone mineralization  (ISS)
negative regulation of cell growth  (IDA)
negative regulation of D-glucose import  (IDA)
negative regulation of fat cell differentiation  (IBA,IDA)
negative regulation of glycogen biosynthetic process  (IDA)
negative regulation of hh target transcription factor activity  (ISS)
negative regulation of insulin receptor signaling pathway  (IDA)
negative regulation of ossification  (ISO)
neuron apoptotic process  (ISO)
nucleoside triphosphate catabolic process  (IBA,IDA,IEA)
odontogenesis  (ISO)
olfactory bulb development  (ISO)
oligodendrocyte apoptotic process  (ISO)
organic phosphonate metabolic process  (ISO)
ossification  (ISO)
osteoblast differentiation  (ISO)
osteoclast differentiation  (ISO)
phosphate ion homeostasis  (IDA)
phosphate-containing compound metabolic process  (IDA)
plasma cell differentiation  (ISO)
post-embryonic forelimb morphogenesis  (ISO)
protein poly-ADP-ribosylation  (ISO)
regulation of bone mineralization  (IBA,IC)
response to ATP  (IDA)
response to dietary excess  (ISO)
response to Gram-positive bacterium  (ISO)
response to insulin  (ISO)
response to magnesium ion  (ISO)
response to mechanical stimulus  (ISO)
response to platelet-derived growth factor  (ISO)
response to sodium phosphate  (ISO)
response to vitamin B6  (ISO)
response to wounding  (ISO)
sensory perception of mechanical stimulus  (ISO)
sensory perception of sound  (ISO)
sensory perception of temperature stimulus  (ISO)
skin development  (ISO)
smoothened signaling pathway  (ISO)
spinal cord development  (ISO)
striatum development  (ISO)
T cell differentiation  (ISO)
tooth mineralization  (ISO)
vascular associated smooth muscle cell migration  (ISO)
vascular associated smooth muscle cell proliferation  (ISO)
vasculogenesis  (ISO)
vesicle-mediated transport  (IEA)
vitamin D3 metabolic process  (ISO)
Wnt signaling pathway  (ISO)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal aortic calcification  (IAGP)
Abnormal blood phosphate concentration  (IAGP)
Abnormal calcification of the carpal bones  (IAGP)
Abnormal cardiovascular system morphology  (IAGP)
Abnormal cerebral vascular morphology  (IAGP)
Abnormal endocardium morphology  (IAGP)
Abnormal hair morphology  (IAGP)
Abnormal hip joint morphology  (IAGP)
Abnormal nail morphology  (IAGP)
Abnormal retinal artery morphology  (IAGP)
Abnormal sacroiliac joint morphology  (IAGP)
Abnormal thorax morphology  (IAGP)
Abnormal trabecular bone morphology  (IAGP)
Abnormality of renal excretion  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the knee  (IAGP)
Abnormality of the lower limb  (IAGP)
Abnormality of the skin  (IAGP)
Abnormality of thrombocytes  (IAGP)
Abnormality of vitamin D metabolism  (IAGP)
Abnormally ossified vertebrae  (IAGP)
Adrenal calcification  (IAGP)
Angina pectoris  (IAGP)
Angioid streaks of the fundus  (IAGP)
Ankylosis  (IAGP)
Aortic dissection  (IAGP)
Aortic valve stenosis  (IAGP)
Arterial calcification  (IAGP)
Arterial stenosis  (IAGP)
Arthralgia  (IAGP)
Ascites  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Blue sclerae  (IAGP)
Bone pain  (IAGP)
Bruising susceptibility  (IAGP)
Calcification of the aorta  (IAGP)
Calcification of the auricular cartilage  (IAGP)
Calcinosis cutis  (IAGP)
Cardiomegaly  (IAGP)
Carious teeth  (IAGP)
Carotid artery calcification  (IAGP)
Cerebral calcification  (IAGP)
Childhood onset  (IAGP)
Choroidal neovascularization  (IAGP)
Conductive hearing impairment  (IAGP)
Congenital onset  (IAGP)
Congestive heart failure  (IAGP)
Coronary artery calcification  (IAGP)
Cortical nephrocalcinosis  (IAGP)
Coxa valga  (IAGP)
Coxa vara  (IAGP)
Craniosynostosis  (IAGP)
Cyanosis  (IAGP)
Decreased resting energy expenditure  (IAGP)
Delayed eruption of teeth  (IAGP)
Delayed skeletal maturation  (IAGP)
Dilated cardiomyopathy  (IAGP)
Distal femoral bowing  (IAGP)
Ectopic calcification  (IAGP)
Edema  (IAGP)
Elevated alkaline phosphatase of bone origin  (IAGP)
Elevated circulating alkaline phosphatase concentration  (IAGP)
Encephalomalacia  (IAGP)
Enlargement of the wrists  (IAGP)
Enthesitis  (IAGP)
Epidermal acanthosis  (IAGP)
Excessive wrinkled skin  (IAGP)
Failure to thrive in infancy  (IAGP)
Feeding difficulties  (IAGP)
Fetal distress  (IAGP)
Fever  (IAGP)
Fused cervical vertebrae  (IAGP)
Gangrene  (IAGP)
Gastrointestinal hemorrhage  (IAGP)
Generalized arterial calcification  (IAGP)
Genu valgum  (IAGP)
Genu varum  (IAGP)
Growth abnormality  (IAGP)
Growth delay  (IAGP)
Hearing impairment  (IAGP)
Hepatic calcification  (IAGP)
Hydrops fetalis  (IAGP)
Hyperextensible skin  (IAGP)
Hyperglycemia  (IAGP)
Hypergranulosis  (IAGP)
Hyperkeratosis  (IAGP)
Hyperkeratotic papule  (IAGP)
Hyperphosphaturia  (IAGP)
Hyperpigmented papule  (IAGP)
Hypertension  (IAGP)
Hypocalcemic tetany  (IAGP)
Hypophosphatemic rickets  (IAGP)
Hypopigmented macule  (IAGP)
Hypoplasia of teeth  (IAGP)
Increased bone mineral density  (IAGP)
Increased waist to hip ratio  (IAGP)
Infantile onset  (IAGP)
Insulin resistance  (IAGP)
Intermittent claudication  (IAGP)
Irritability  (IAGP)
Joint hypermobility  (IAGP)
Juvenile onset  (IAGP)
Lack of skin elasticity  (IAGP)
Late onset  (IAGP)
Left ventricular systolic dysfunction  (IAGP)
Low serum calcitriol  (IAGP)
Lower limb asymmetry  (IAGP)
Malabsorption  (IAGP)
Medial calcification of large arteries  (IAGP)
Medial calcification of medium-sized arteries  (IAGP)
Medullary nephrocalcinosis  (IAGP)
Metamorphopsia  (IAGP)
Mitral valve prolapse  (IAGP)
Mixed hearing impairment  (IAGP)
Multiple lipomas  (IAGP)
Muscle weakness  (IAGP)
Myocardial calcification  (IAGP)
Myocardial infarction  (IAGP)
Neonatal onset  (IAGP)
Neonatal respiratory distress  (IAGP)
Nephrocalcinosis  (IAGP)
Obesity  (IAGP)
Orthokeratosis  (IAGP)
Osteomalacia  (IAGP)
Palmoplantar keratoderma  (IAGP)
Pancreatic calcification  (IAGP)
Periarticular calcification  (IAGP)
Pericardial effusion  (IAGP)
Polyarticular arthritis  (IAGP)
Polygenic inheritance  (IAGP)
Polyhydramnios  (IAGP)
Postural instability  (IAGP)
Pseudo-fractures  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Pulmonic stenosis  (IAGP)
Punctate palmoplantar hyperkeratosis  (IAGP)
Recurrent spontaneous abortion  (IAGP)
Redundant skin  (IAGP)
Renal artery stenosis  (IAGP)
Renal hypophosphatemia  (IAGP)
Renal phosphate wasting  (IAGP)
Renovascular hypertension  (IAGP)
Respiratory distress  (IAGP)
Restrictive cardiomyopathy  (IAGP)
Retinal hemorrhage  (IAGP)
Retinal peau d'orange  (IAGP)
Retinopathy  (IAGP)
Rickets of the lower limbs  (IAGP)
Sclerotic vertebral endplates  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe global developmental delay  (IAGP)
Short stature  (IAGP)
Skeletal dysplasia  (IAGP)
Spinal canal stenosis  (IAGP)
Stapes ankylosis  (IAGP)
Stippled calcification of the elbow  (IAGP)
Stippled calcification of the shoulder  (IAGP)
Striae distensae  (IAGP)
Stroke  (IAGP)
Subcutaneous nodule  (IAGP)
Sudden cardiac death  (IAGP)
Telangiectasia of the skin  (IAGP)
Thickened nuchal skin fold  (IAGP)
Tibial bowing  (IAGP)
Tooth abscess  (IAGP)
Transient ischemic attack  (IAGP)
Type II diabetes mellitus  (IAGP)
Ventricular hypertrophy  (IAGP)
Visual impairment  (IAGP)
Vomiting  (IAGP)
Weak pulse  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. The expression of ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (E-NPP1) is correlated with astrocytic tumor grade. Aerts I, etal., Clin Neurol Neurosurg. 2011 Apr;113(3):224-9. doi: 10.1016/j.clineuro.2010.11.018. Epub 2010 Dec 30.
2. The ENPP1 Q121 variant predicts major cardiovascular events in high-risk individuals: evidence for interaction with obesity in diabetic patients. Bacci S, etal., Diabetes. 2011 Mar;60(3):1000-7. Epub 2011 Jan 31.
3. Generalized arterial calcification of infancy: different clinical courses in two affected siblings. Cheng KS, etal., Am J Med Genet A. 2005 Jul 15;136(2):210-3.
4. Inhibition of ectonucleotidase with ARL67156 prevents the development of calcific aortic valve disease in warfarin-treated rats. Côté N, etal., Eur J Pharmacol. 2012 Aug 15;689(1-3):139-46. doi: 10.1016/j.ejphar.2012.05.016. Epub 2012 May 31.
5. Genetic mapping and exome sequencing identify 2 mutations associated with stroke protection in pediatric patients with sickle cell anemia. Flanagan JM, etal., Blood. 2013 Apr 18;121(16):3237-45. doi: 10.1182/blood-2012-10-464156. Epub 2013 Feb 19.
6. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
7. PC-1 amino acid variant (K121Q) has no impact on progression of diabetic nephropathy in type 1 diabetic patients. Jacobsen P, etal., Nephrol Dial Transplant. 2002 Aug;17(8):1408-12.
8. Chondrogenesis mediated by PPi depletion promotes spontaneous aortic calcification in NPP1-/- mice. Johnson K, etal., Arterioscler Thromb Vasc Biol. 2005 Apr;25(4):686-91. Epub 2004 Dec 29.
9. Association of the distal region of the ectonucleotide pyrophosphatase/phosphodiesterase 1 gene with type 2 diabetes in an African-American population enriched for nephropathy. Keene KL, etal., Diabetes. 2008 Apr;57(4):1057-62. Epub 2008 Jan 9.
10. Enpp1: a potential facilitator of breast cancer bone metastasis. Lau WM, etal., PLoS One. 2013 Jul 5;8(7):e66752. doi: 10.1371/journal.pone.0066752. Print 2013.
11. Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene. Levy-Litan V, etal., Am J Hum Genet. 2010 Feb 12;86(2):273-8. Epub 2010 Feb 4.
12. Mutant Enpp1asj mice as a model for generalized arterial calcification of infancy. Li Q, etal., Dis Model Mech. 2013 Sep;6(5):1227-35. doi: 10.1242/dmm.012765. Epub 2013 Jun 20.
13. Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. Lorenz-Depiereux B, etal., Am J Hum Genet. 2010 Feb 12;86(2):267-72. Epub 2010 Feb 4.
14. Variants of ENPP1 are associated with childhood and adult obesity and increase the risk of glucose intolerance and type 2 diabetes. Meyre D, etal., Nat Genet. 2005 Aug;37(8):863-7. Epub 2005 Jul 17.
15. Association of the human NPPS gene with ossification of the posterior longitudinal ligament of the spine (OPLL). Nakamura I, etal., Hum Genet. 1999 Jun;104(6):492-7.
16. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
17. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
18. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
19. A polymorphism (K121Q) of the human glycoprotein PC-1 gene coding region is strongly associated with insulin resistance. Pizzuti A, etal., Diabetes. 1999 Sep;48(9):1881-4.
20. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
21. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
22. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
23. Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy. Rutsch F, etal., Circ Cardiovasc Genet. 2008 Dec;1(2):133-40.
24. Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. Rutsch F, etal., Nat Genet 2003 Aug;34(4):379-81.
25. Insulin resistance and left ventricular hypertrophy in end-stage renal disease: association between the ENPP1 gene and left ventricular concentric remodelling. Spoto B, etal., Nephrol Dial Transplant. 2012 Feb;27(2):661-6. Epub 2011 May 19.
26. The extent of ossification of posterior longitudinal ligament of the spine associated with nucleotide pyrophosphatase gene and leptin receptor gene polymorphisms. Tahara M, etal., Spine (Phila Pa 1976). 2005 Apr 15;30(8):877-80; discussion 881.
27. Association and interaction analyses of genetic variants in ADIPOQ, ENPP1, GHSR, PPARgamma and TCF7L2 genes for diabetic nephropathy in a Taiwanese population with type 2 diabetes. Wu LS, etal., Nephrol Dial Transplant. 2009 Nov;24(11):3360-6. Epub 2009 Jun 8.
28. Regulation of insulin receptor function. Youngren JF Cell Mol Life Sci. 2007 Apr;64(7-8):873-91.
Additional References at PubMed
PMID:1315502   PMID:2211644   PMID:7737162   PMID:7830796   PMID:8001561   PMID:8040311   PMID:9344668   PMID:9553761   PMID:10513816   PMID:10524196   PMID:10615944   PMID:11159191  
PMID:11289049   PMID:11473061   PMID:11739459   PMID:11771660   PMID:11916943   PMID:12126783   PMID:12147786   PMID:12441313   PMID:12477932   PMID:12483464   PMID:12547881   PMID:12715715  
PMID:12740448   PMID:12746903   PMID:14514598   PMID:14574404   PMID:14671192   PMID:15001634   PMID:15045693   PMID:15072822   PMID:15126519   PMID:15374726   PMID:15489334   PMID:15677494  
PMID:15793263   PMID:15802034   PMID:16186408   PMID:16207325   PMID:16231022   PMID:16272817   PMID:16278247   PMID:16527214   PMID:16607460   PMID:16609882   PMID:16865358   PMID:16936213  
PMID:16941279   PMID:16968801   PMID:17026496   PMID:17043047   PMID:17065358   PMID:17065359   PMID:17129580   PMID:17143316   PMID:17192490   PMID:17228024   PMID:17287921   PMID:17367703  
PMID:17491709   PMID:17493546   PMID:17563456   PMID:17606264   PMID:17704904   PMID:17719609   PMID:17848394   PMID:17849011   PMID:17897319   PMID:17986276   PMID:18071025   PMID:18176722  
PMID:18222177   PMID:18389334   PMID:18426862   PMID:18464750   PMID:18498634   PMID:18551113   PMID:18583883   PMID:18657335   PMID:18664022   PMID:18690303   PMID:18719658   PMID:18760862  
PMID:18776139   PMID:18940878   PMID:18948963   PMID:18950909   PMID:19017751   PMID:19046915   PMID:19056482   PMID:19083193   PMID:19086938   PMID:19107338   PMID:19206175   PMID:19368707  
PMID:19374858   PMID:19399648   PMID:19403348   PMID:19420105   PMID:19453261   PMID:19577557   PMID:19578796   PMID:19643578   PMID:19656007   PMID:19679831   PMID:19692168   PMID:19876004  
PMID:19888898   PMID:19913121   PMID:19931660   PMID:20015201   PMID:20091022   PMID:20092902   PMID:20176643   PMID:20186155   PMID:20200332   PMID:20231843   PMID:20301750   PMID:20428609  
PMID:20446819   PMID:20503258   PMID:20562859   PMID:20628086   PMID:20709678   PMID:20820885   PMID:20958205   PMID:20981035   PMID:21076580   PMID:21090681   PMID:21153685   PMID:21162834  
PMID:21198320   PMID:21452007   PMID:21565692   PMID:21573217   PMID:21647535   PMID:21738662   PMID:21810932   PMID:21873635   PMID:22136912   PMID:22209248   PMID:22231969   PMID:22285541  
PMID:22327785   PMID:22366713   PMID:22402064   PMID:22484154   PMID:22826605   PMID:22842219   PMID:22846899   PMID:22899099   PMID:23012391   PMID:23111648   PMID:23122642   PMID:23251661  
PMID:23433854   PMID:23451554   PMID:24075184   PMID:24222241   PMID:24242286   PMID:24338010   PMID:24371178   PMID:24531536   PMID:24947519   PMID:24981860   PMID:25025693   PMID:25109753  
PMID:25222839   PMID:25231727   PMID:25344812   PMID:25368487   PMID:25392903   PMID:25476789   PMID:25504209   PMID:25594612   PMID:25615550   PMID:25644539   PMID:25741938   PMID:25794151  
PMID:26065921   PMID:26186194   PMID:26405014   PMID:26617416   PMID:26868433   PMID:26958016   PMID:27029882   PMID:27029896   PMID:27219689   PMID:27226596   PMID:27238374   PMID:27467858  
PMID:27519661   PMID:27835608   PMID:28011303   PMID:28080219   PMID:28381371   PMID:28415752   PMID:28514442   PMID:28592560   PMID:28652107   PMID:28942038   PMID:28951309   PMID:28964717  
PMID:29103441   PMID:29194839   PMID:29244957   PMID:29783211   PMID:29958952   PMID:29979387   PMID:30024968   PMID:30099416   PMID:30188771   PMID:30356045   PMID:30442662   PMID:30799235  
PMID:30985656   PMID:31091453   PMID:31250990   PMID:31318911   PMID:31350533   PMID:31444901   PMID:31805212   PMID:31902046   PMID:31995728   PMID:32409323   PMID:32726330   PMID:32876064  
PMID:33001583   PMID:33271541   PMID:33465815   PMID:33545068   PMID:33635867   PMID:33859255   PMID:33961781   PMID:34079125   PMID:34252603   PMID:34349018   PMID:34355424   PMID:35191482  
PMID:35271311   PMID:35475527   PMID:35482848   PMID:35588451   PMID:35696571   PMID:35944360   PMID:36114006   PMID:36150100   PMID:36897256   PMID:37003563   PMID:37231232   PMID:37314216  
PMID:37871131   PMID:38117852   PMID:38142838   PMID:38265511   PMID:38498770   PMID:38582229   PMID:38777146   PMID:38806089  


Genomics

Comparative Map Data
ENPP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386131,808,020 - 131,895,155 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6131,808,016 - 131,895,155 (+)EnsemblGRCh38hg38GRCh38
GRCh376132,129,160 - 132,216,295 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366132,170,853 - 132,254,043 (+)NCBINCBI36Build 36hg18NCBI36
Build 346132,170,852 - 132,254,043NCBI
Celera6132,876,272 - 132,963,416 (+)NCBICelera
Cytogenetic Map6q23.2NCBI
HuRef6129,704,724 - 129,791,900 (+)NCBIHuRef
CHM1_16132,392,926 - 132,480,050 (+)NCBICHM1_1
T2T-CHM13v2.06133,002,962 - 133,090,181 (+)NCBIT2T-CHM13v2.0
Enpp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391024,513,812 - 24,588,057 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1024,513,812 - 24,588,057 (-)EnsemblGRCm39 Ensembl
GRCm381024,637,914 - 24,712,159 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1024,637,914 - 24,712,159 (-)EnsemblGRCm38mm10GRCm38
MGSCv371024,361,217 - 24,431,908 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361024,330,827 - 24,401,518 (-)NCBIMGSCv36mm8
Celera1025,583,320 - 25,641,223 (-)NCBICelera
Cytogenetic Map10A4NCBI
cM Map1012.26NCBI
Enpp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8122,518,051 - 22,583,044 (+)NCBIGRCr8
GRCr8 Ensembl122,518,069 - 22,583,044 (+)EnsemblGRCr8 Ensembl
mRatBN7.2120,698,746 - 20,763,741 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl120,698,764 - 20,763,715 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx120,475,435 - 20,539,162 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0126,475,432 - 26,539,171 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0120,675,339 - 20,739,097 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0121,748,201 - 21,813,205 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl121,748,261 - 21,813,371 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0123,228,262 - 23,292,896 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4121,223,678 - 21,287,411 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera119,451,097 - 19,514,516 (+)NCBICelera
RGSC_v3.1121,223,940 - 21,288,766 (+)NCBI
Cytogenetic Map1p12NCBI
Enpp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543612,415,737 - 12,480,359 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495543612,416,147 - 12,477,214 (+)NCBIChiLan1.0ChiLan1.0
ENPP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v25151,797,817 - 151,882,874 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan16149,704,715 - 149,789,744 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v06129,591,858 - 129,673,000 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.16133,698,904 - 133,783,644 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl6133,698,640 - 133,783,644 (+)Ensemblpanpan1.1panPan2
ENPP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11251,985 - 322,081 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1252,103 - 322,718 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha11,243,885 - 1,317,644 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0144,146 - 117,941 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl148,283 - 118,098 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1193,290 - 167,054 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0138,450 - 112,214 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01209,085 - 282,880 (-)NCBIUU_Cfam_GSD_1.0
Enpp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404946120,195,622 - 120,237,836 (+)NCBIHiC_Itri_2
SpeTri2.0NW_004937067194,375 - 246,607 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ENPP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl131,722,721 - 31,796,595 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1131,724,290 - 31,796,594 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2135,240,330 - 35,281,377 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ENPP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11341,670,416 - 41,755,549 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604013,807,051 - 13,921,708 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Enpp1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247535,917,689 - 5,982,308 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247535,918,005 - 5,983,480 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ENPP1
740 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006208.3(ENPP1):c.*1043A>G single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000280683]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000372927]|Obesity [RCV000022719] Chr6:131891554 [GRCh38]
Chr6:132212694 [GRCh37]
Chr6:6q23.2
risk factor|benign
NM_006208.3(ENPP1):c.913C>A (p.Pro305Thr) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000022720]|Arterial calcification, generalized, of infancy, 1 [RCV005031451]|ENPP1-related disorder [RCV004532398]|not provided [RCV001576453] Chr6:131860504 [GRCh38]
Chr6:132181644 [GRCh37]
Chr6:6q23.2
pathogenic|uncertain significance
NM_006208.3(ENPP1):c.1612G>C (p.Asp538His) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000022721] Chr6:131874314 [GRCh38]
Chr6:132195454 [GRCh37]
Chr6:6q23.2
pathogenic
NM_006208.3(ENPP1):c.795+1G>A single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000022722]|not provided [RCV003144111] Chr6:131858748 [GRCh38]
Chr6:132179888 [GRCh37]
Chr6:6q23.2
pathogenic|likely pathogenic
ENPP1, GLY586ARG variation Arterial calcification of infancy [RCV000022723] Chr6:6q22-q23 pathogenic
ENPP1, IVS20AS, 1-BP DEL, T, -11 deletion Diabetes mellitus type 2, susceptibility to [RCV000014552]|Obesity [RCV000033196] Chr6:6q22-q23 risk factor|likely benign
NM_006208.3(ENPP1):c.2677G>T (p.Glu893Ter) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000014554]|not provided [RCV004808550] Chr6:131890410 [GRCh38]
Chr6:132211550 [GRCh37]
Chr6:6q23.2
pathogenic
NM_006208.3(ENPP1):c.2320C>T (p.Arg774Cys) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000014555]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000394923]|Type 2 diabetes mellitus [RCV002226647]|not provided [RCV001512633]|not specified [RCV000176409] Chr6:131884939 [GRCh38]
Chr6:132206079 [GRCh37]
Chr6:6q23.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006208.3(ENPP1):c.1072_1082del (p.Gln358fs) deletion Arterial calcification, generalized, of infancy, 1 [RCV000014556] Chr6:131864551..131864561 [GRCh38]
Chr6:132185691..132185701 [GRCh37]
Chr6:6q23.2
pathogenic
NM_006208.3(ENPP1):c.1737G>C (p.Leu579Phe) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000014557] Chr6:131877005 [GRCh38]
Chr6:132198145 [GRCh37]
Chr6:6q23.2
pathogenic
NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000355961]|Arterial calcification, generalized, of infancy, 1 [RCV005394151]|Diabetes mellitus type 2, susceptibility to [RCV001255136]|ENPP1-related disorder [RCV004541005]|Hypophosphatemic rickets [RCV001843453]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000265863]|Hypopigmentation-punctate palmoplantar keratoderma syndrome [RCV001659696]|Insulin resistance, susceptibility to [RCV000014558]|Obesity [RCV000033192]|Type 2 diabetes mellitus [RCV002226648]|not provided [RCV001515718]|not specified [RCV000178259] Chr6:131851228 [GRCh38]
Chr6:132172368 [GRCh37]
Chr6:6q23.2
likely pathogenic|risk factor|association|benign|no classifications from unflagged records
NM_006208.3(ENPP1):c.1025G>T (p.Gly342Val) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000014560]|Coronary sclerosis, medial, of infancy [RCV000853319]|not provided [RCV001851855] Chr6:131861704 [GRCh38]
Chr6:132182844 [GRCh37]
Chr6:6q23.2
pathogenic|likely pathogenic
NM_006208.3(ENPP1):c.1112A>T (p.Tyr371Phe) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000014561] Chr6:131864886 [GRCh38]
Chr6:132186026 [GRCh37]
Chr6:6q23.2
pathogenic
NM_006208.3(ENPP1):c.2444+702_*868del deletion Hypophosphatemic rickets, autosomal recessive, 2 [RCV000014562] Chr6:131885763..131891377 [GRCh38]
Chr6:132206903..132212517 [GRCh37]
Chr6:6q23.2
pathogenic
NM_006208.3(ENPP1):c.797G>T (p.Gly266Val) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000014564]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000014563] Chr6:131860388 [GRCh38]
Chr6:132181528 [GRCh37]
Chr6:6q23.2
pathogenic|likely pathogenic
NM_006208.3(ENPP1):c.2248dup (p.Ser750fs) duplication Hypophosphatemic rickets, autosomal recessive, 2 [RCV000014565] Chr6:131883709..131883710 [GRCh38]
Chr6:132204849..132204850 [GRCh37]
Chr6:6q23.2
pathogenic
NM_006208.3(ENPP1):c.783C>G (p.Tyr261Ter) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000014567]|ENPP1-related disorder [RCV004734519]|not provided [RCV001044349] Chr6:131858735 [GRCh38]
Chr6:132179875 [GRCh37]
Chr6:6q23.2
pathogenic
NM_006208.3(ENPP1):c.878_879del (p.Lys293fs) deletion Arterial calcification, generalized, of infancy, 1 [RCV000014568] Chr6:131860468..131860469 [GRCh38]
Chr6:132181608..132181609 [GRCh37]
Chr6:6q23.2
pathogenic
NM_006208.3(ENPP1):c.2702A>C (p.Tyr901Ser) single nucleotide variant Hypophosphatemic rickets, autosomal recessive, 2 [RCV000014566] Chr6:131890435 [GRCh38]
Chr6:132211575 [GRCh37]
Chr6:6q23.2
pathogenic
NM_006208.3(ENPP1):c.530G>A (p.Cys177Tyr) single nucleotide variant Hypopigmentation-punctate palmoplantar keratoderma syndrome [RCV000074401] Chr6:131851241 [GRCh38]
Chr6:132172381 [GRCh37]
Chr6:6q23.2
pathogenic
GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1 copy number loss See cases [RCV000051196] Chr6:108944899..132067720 [GRCh38]
Chr6:109266102..132388860 [GRCh37]
Chr6:109372795..132430553 [NCBI36]
Chr6:6q21-23.2
pathogenic
NM_006208.3(ENPP1):c.-10C>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001154492]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001154491]|not provided [RCV001547684]|not specified [RCV000173399] Chr6:131808026 [GRCh38]
Chr6:132129166 [GRCh37]
Chr6:6q23.2
benign|likely benign|uncertain significance
NM_006208.3(ENPP1):c.323G>T (p.Cys108Phe) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000660585] Chr6:131849999 [GRCh38]
Chr6:132171139 [GRCh37]
Chr6:6q23.2
likely pathogenic
NM_006208.3(ENPP1):c.491G>C (p.Cys164Ser) single nucleotide variant Hypopigmentation-punctate palmoplantar keratoderma syndrome [RCV000074402] Chr6:131851202 [GRCh38]
Chr6:132172342 [GRCh37]
Chr6:6q23.2
pathogenic
NM_006208.3(ENPP1):c.446G>C (p.Cys149Ser) single nucleotide variant Hypopigmentation-punctate palmoplantar keratoderma syndrome [RCV000074403] Chr6:131851157 [GRCh38]
Chr6:132172297 [GRCh37]
Chr6:6q23.2
pathogenic
NM_006208.3(ENPP1):c.2657G>C (p.Arg886Thr) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000369243]|ENPP1-related disorder [RCV004537408]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000333261]|Type 2 diabetes mellitus [RCV002226692]|not provided [RCV000954668]|not specified [RCV000176564] Chr6:131890390 [GRCh38]
Chr6:132211530 [GRCh37]
Chr6:6q23.2
benign|likely benign|uncertain significance
NM_006208.3(ENPP1):c.313+9del deletion not provided [RCV001572677]|not specified [RCV000175820] Chr6:131847856 [GRCh38]
Chr6:132168996 [GRCh37]
Chr6:6q23.2
benign|likely benign
NM_006208.3(ENPP1):c.939A>C (p.Gln313His) single nucleotide variant not provided [RCV003159319] Chr6:131861618 [GRCh38]
Chr6:132182758 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.27C>G (p.Gly9=) single nucleotide variant not provided [RCV000173398] Chr6:131808062 [GRCh38]
Chr6:132129202 [GRCh37]
Chr6:6q23.2
conflicting interpretations of pathogenicity|uncertain significance
NM_006208.3(ENPP1):c.1056T>G (p.Ala352=) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001155436]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001155435]|not provided [RCV000173822] Chr6:131864536 [GRCh38]
Chr6:132185676 [GRCh37]
Chr6:6q23.2
conflicting interpretations of pathogenicity|uncertain significance
NM_006208.3(ENPP1):c.1791T>C (p.Asn597=) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001151670]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001154709]|not provided [RCV000175320] Chr6:131877059 [GRCh38]
Chr6:132198199 [GRCh37]
Chr6:6q23.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 copy number gain See cases [RCV000139729] Chr6:74382807..142040500 [GRCh38]
Chr6:75092523..142361637 [GRCh37]
Chr6:75149243..142403330 [NCBI36]
Chr6:6q13-24.1
pathogenic
GRCh38/hg38 6q22.33-23.2(chr6:129191313-132131620)x1 copy number loss See cases [RCV000142349] Chr6:129191313..132131620 [GRCh38]
Chr6:129512458..132452760 [GRCh37]
Chr6:129554151..132494453 [NCBI36]
Chr6:6q22.33-23.2
likely pathogenic
NM_006208.3(ENPP1):c.1831C>G (p.Leu611Val) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000202480]|Hypophosphatemic rickets [RCV001843482]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000305235]|not provided [RCV000968099]|not specified [RCV000733937] Chr6:131877099 [GRCh38]
Chr6:132198239 [GRCh37]
Chr6:6q23.2
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|no classifications from unflagged records
NM_006208.3(ENPP1):c.2002G>A (p.Glu668Lys) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000202530]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000366414]|not provided [RCV000968100]|not specified [RCV000733934] Chr6:131879936 [GRCh38]
Chr6:132201076 [GRCh37]
Chr6:6q23.2
benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 6q22.32-23.2(chr6:126494533-132497855)x1 copy number loss See cases [RCV000142805] Chr6:126494533..132497855 [GRCh38]
Chr6:126815679..132818994 [GRCh37]
Chr6:126857372..132860687 [NCBI36]
Chr6:6q22.32-23.2
likely pathogenic
NM_006208.3(ENPP1):c.313+10del deletion ENPP1-related disorder [RCV004537389]|not provided [RCV000175821] Chr6:131847858 [GRCh38]
Chr6:132168998 [GRCh37]
Chr6:6q23.2
likely benign|uncertain significance
NM_006208.3(ENPP1):c.2661A>G (p.Ala887=) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000260736]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000315962]|not provided [RCV001515719] Chr6:131890394 [GRCh38]
Chr6:131890394..131890395 [GRCh38]
Chr6:132211534 [GRCh37]
Chr6:132211534..132211535 [GRCh37]
Chr6:6q23.2
benign|likely benign
NM_006208.3(ENPP1):c.*3163C>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000263618]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000300190] Chr6:131893674 [GRCh38]
Chr6:132214814 [GRCh37]
Chr6:6q23.2
benign|likely benign
NM_006208.3(ENPP1):c.*3176T>A single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000259938]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000355016] Chr6:131893687 [GRCh38]
Chr6:132214827 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.-13G>A single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000285163]|ENPP1-related disorder [RCV004535355]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000342615]|not provided [RCV000278464] Chr6:131808023 [GRCh38]
Chr6:132129163 [GRCh37]
Chr6:6q23.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006208.3(ENPP1):c.2608-1G>A single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005004205]|not provided [RCV000513679] Chr6:131890340 [GRCh38]
Chr6:132211480 [GRCh37]
Chr6:6q23.2
likely pathogenic
NM_006208.3(ENPP1):c.1136G>T (p.Gly379Val) single nucleotide variant not provided [RCV000722303] Chr6:131864910 [GRCh38]
Chr6:132186050 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2106T>C (p.Ser702=) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000278731]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000337040]|not provided [RCV000962164] Chr6:131882350 [GRCh38]
Chr6:132203490 [GRCh37]
Chr6:6q23.2
benign|likely benign
NM_006208.3(ENPP1):c.*3837T>C single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000284533]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000379113] Chr6:131894348 [GRCh38]
Chr6:132215488 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.2757A>T (p.Pro919=) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000281165]|ENPP1-related disorder [RCV004544664]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000375180]|not provided [RCV000592971] Chr6:131890490 [GRCh38]
Chr6:132211630 [GRCh37]
Chr6:6q23.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006208.3(ENPP1):c.*3784T>C single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000324515]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000270241] Chr6:131894295 [GRCh38]
Chr6:132215435 [GRCh37]
Chr6:6q23.2
benign|likely benign
NM_006208.3(ENPP1):c.2089G>A (p.Val697Met) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000331472]|Arterial calcification, generalized, of infancy, 1 [RCV002480233]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000271852]|not provided [RCV003766044] Chr6:131880023 [GRCh38]
Chr6:132201163 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*772A>G single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000266581]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000359059] Chr6:131891283 [GRCh38]
Chr6:132212423 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*1539A>G single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000358267]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000266665] Chr6:131892050 [GRCh38]
Chr6:132213190 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.*699T>A single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000337253]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000298639] Chr6:131891210 [GRCh38]
Chr6:132212350 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.*3625G>A single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000313700]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000405172] Chr6:131894136 [GRCh38]
Chr6:132215276 [GRCh37]
Chr6:6q23.2
benign|likely benign
NM_006208.3(ENPP1):c.313+10T>G single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000369343]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000314622]|not provided [RCV002058556] Chr6:131847858 [GRCh38]
Chr6:132168998 [GRCh37]
Chr6:6q23.2
likely benign|uncertain significance
NM_006208.3(ENPP1):c.*4636C>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000362140]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000268568] Chr6:131895147 [GRCh38]
Chr6:132216287 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.*38G>A single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000322238]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000376769] Chr6:131890549 [GRCh38]
Chr6:132211689 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*485C>A single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000269641]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000378482] Chr6:131890996 [GRCh38]
Chr6:132212136 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*3511T>C single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000341660]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000286555] Chr6:131894022 [GRCh38]
Chr6:132215162 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.*4641A>G single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000359682]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000323729] Chr6:131895152 [GRCh38]
Chr6:132216292 [GRCh37]
Chr6:6q23.2
benign|likely benign
NM_006208.3(ENPP1):c.1317A>G (p.Lys439=) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000387531]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000346960]|not provided [RCV000962163] Chr6:131869401 [GRCh38]
Chr6:132190541 [GRCh37]
Chr6:6q23.2
benign|likely benign
NM_006208.3(ENPP1):c.*735A>G single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000404764]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000301958] Chr6:131891246 [GRCh38]
Chr6:132212386 [GRCh37]
Chr6:6q23.2
benign|likely benign
NM_006208.3(ENPP1):c.*777C>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000327797]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000270276] Chr6:131891288 [GRCh38]
Chr6:132212428 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.*2282G>A single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000271841]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000364111] Chr6:131892793 [GRCh38]
Chr6:132213933 [GRCh37]
Chr6:6q23.2
benign|likely benign
NM_006208.3(ENPP1):c.*112G>A single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000288106]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000404885]|not provided [RCV001636982] Chr6:131890623 [GRCh38]
Chr6:132211763 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.*772A>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000305438]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000362642] Chr6:131891283 [GRCh38]
Chr6:132212423 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.*536T>C single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000383879]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000327018] Chr6:131891047 [GRCh38]
Chr6:132212187 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*1240T>C single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000287284]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000378402]|not provided [RCV004695906] Chr6:131891751 [GRCh38]
Chr6:132212891 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*96C>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000341873]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000287044] Chr6:131890607 [GRCh38]
Chr6:132211747 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*1670T>C single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000288986]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000327739] Chr6:131892181 [GRCh38]
Chr6:132213321 [GRCh37]
Chr6:6q23.2
benign|likely benign
NM_006208.3(ENPP1):c.*3594C>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000338243]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000406061] Chr6:131894105 [GRCh38]
Chr6:132215245 [GRCh37]
Chr6:6q23.2
benign|likely benign
NM_006208.3(ENPP1):c.*1091A>C single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000405247]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000338108] Chr6:131891602 [GRCh38]
Chr6:132212742 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.*2900G>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000307375]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000408155] Chr6:131893411 [GRCh38]
Chr6:132214551 [GRCh37]
Chr6:6q23.2
benign|likely benign
NM_006208.3(ENPP1):c.*4346T>A single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000403739]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000351442] Chr6:131894857 [GRCh38]
Chr6:132215997 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*1101G>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000304638]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000343288] Chr6:131891612 [GRCh38]
Chr6:132212752 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.*3838G>A single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000320839]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000375721] Chr6:131894349 [GRCh38]
Chr6:132215489 [GRCh37]
Chr6:6q23.2
benign|likely benign
NM_006208.3(ENPP1):c.802T>C (p.Tyr268His) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000380187]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000321013]|not provided [RCV002520406] Chr6:131860393 [GRCh38]
Chr6:132181533 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*3706G>A single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000368421]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000273677] Chr6:131894217 [GRCh38]
Chr6:132215357 [GRCh37]
Chr6:6q23.2
benign|likely benign
NM_006208.3(ENPP1):c.*698_*699insA insertion Arterial calcification, generalized, of infancy, 1 [RCV000352506]|Hypophosphatemic Rickets, Recessive [RCV000402821] Chr6:131891209..131891210 [GRCh38]
Chr6:132212349..132212350 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.*3271C>G single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000275098]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000330429] Chr6:131893782 [GRCh38]
Chr6:132214922 [GRCh37]
Chr6:6q23.2
benign|likely benign
NM_006208.3(ENPP1):c.2230+13C>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000405999]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000342729]|not provided [RCV002523548] Chr6:131882487 [GRCh38]
Chr6:132203627 [GRCh37]
Chr6:6q23.2
likely benign|uncertain significance
NM_006208.3(ENPP1):c.*2342G>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000332872]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000275275] Chr6:131892853 [GRCh38]
Chr6:132213993 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*563G>A single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000291871]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000349050] Chr6:131891074 [GRCh38]
Chr6:132212214 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.2101-10del deletion Arterial calcification, generalized, of infancy, 1 [RCV000373264]|Hypophosphatemic Rickets, Recessive [RCV000332542]|not provided [RCV000960890] Chr6:131882335 [GRCh38]
Chr6:132203475 [GRCh37]
Chr6:6q23.2
benign|likely benign
NM_006208.3(ENPP1):c.1329T>C (p.Asp443=) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000293021]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000352842]|not provided [RCV000973397] Chr6:131869413 [GRCh38]
Chr6:132190553 [GRCh37]
Chr6:6q23.2
benign|likely benign
NM_006208.3(ENPP1):c.2236A>C (p.Asn746His) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000362563]|Arterial calcification, generalized, of infancy, 1 [RCV002487561]|ENPP1-related disorder [RCV004530432]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000307978]|not provided [RCV001217516] Chr6:131883699 [GRCh38]
Chr6:132204839 [GRCh37]
Chr6:6q23.2
likely benign|uncertain significance
NM_006208.3(ENPP1):c.*1122A>G single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000390615]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000307993] Chr6:131891633 [GRCh38]
Chr6:132212773 [GRCh37]
Chr6:6q23.2
likely benign|uncertain significance
NM_006208.3(ENPP1):c.*1559G>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000380989]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000324181] Chr6:131892070 [GRCh38]
Chr6:132213210 [GRCh37]
Chr6:6q23.2
benign|likely benign
NM_006208.3(ENPP1):c.*1137T>C single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000365055]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000396259] Chr6:131891648 [GRCh38]
Chr6:132212788 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.*457T>A single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000355195]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000260342] Chr6:131890968 [GRCh38]
Chr6:132212108 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.332G>A (p.Arg111His) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000260657]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000301202]|Inborn genetic diseases [RCV004975477]|not provided [RCV003727713] Chr6:131850008 [GRCh38]
Chr6:132171148 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*1221A>G single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000333979]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000276690] Chr6:131891732 [GRCh38]
Chr6:132212872 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*1299C>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000312858]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000404473] Chr6:131891810 [GRCh38]
Chr6:132212950 [GRCh37]
Chr6:6q23.2
benign|likely benign
NM_006208.3(ENPP1):c.*163C>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000313049]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000367685]|not provided [RCV001613178] Chr6:131890674 [GRCh38]
Chr6:132211814 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.1566-14T>C single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000335328]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000396964]|not provided [RCV001510113] Chr6:131874254 [GRCh38]
Chr6:132195394 [GRCh37]
Chr6:6q23.2
benign|likely benign
NM_006208.3(ENPP1):c.313+9GT[16] microsatellite Arterial calcification, generalized, of infancy, 1 [RCV000404568]|Hypophosphatemic Rickets, Recessive [RCV000308688]|not provided [RCV000975128] Chr6:131847857..131847862 [GRCh38]
Chr6:132168997..132169002 [GRCh37]
Chr6:6q23.2
benign|likely benign|uncertain significance
NM_006208.3(ENPP1):c.*1499C>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000319839]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000262398] Chr6:131892010 [GRCh38]
Chr6:132213150 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*2698G>A single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000279027]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000389801] Chr6:131893209 [GRCh38]
Chr6:132214349 [GRCh37]
Chr6:6q23.2
likely benign|uncertain significance
NM_006208.3(ENPP1):c.*1038T>A single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000296084]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000334679] Chr6:131891549 [GRCh38]
Chr6:132212689 [GRCh37]
Chr6:6q23.2
likely benign|uncertain significance
NM_006208.3(ENPP1):c.*389G>A single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000314374]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000397976] Chr6:131890900 [GRCh38]
Chr6:132212040 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.*2737C>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000374770]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000336398] Chr6:131893248 [GRCh38]
Chr6:132214388 [GRCh37]
Chr6:6q23.2
benign|likely benign
NM_006208.3(ENPP1):c.*637A>C single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000387272]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000295338] Chr6:131891148 [GRCh38]
Chr6:132212288 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.165G>A (p.Val55=) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000310553]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000365180]|not provided [RCV001861270] Chr6:131808200 [GRCh38]
Chr6:132129340 [GRCh37]
Chr6:6q23.2
likely benign|uncertain significance
NM_006208.3(ENPP1):c.*121G>C single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000347768]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000404499]|not provided [RCV001618643] Chr6:131890632 [GRCh38]
Chr6:132211772 [GRCh37]
Chr6:6q23.2
benign|likely benign
NM_006208.3(ENPP1):c.*467A>C single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000323816]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000263963] Chr6:131890978 [GRCh38]
Chr6:132212118 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*2076C>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000338169]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000405728] Chr6:131892587 [GRCh38]
Chr6:132213727 [GRCh37]
Chr6:6q23.2
likely benign|uncertain significance
NM_006208.3(ENPP1):c.*1972G>C single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000334744]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000296172] Chr6:131892483 [GRCh38]
Chr6:132213623 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.2101-11del deletion Arterial calcification, generalized, of infancy, 1 [RCV000386044]|Diabetes mellitus type 2, susceptibility to [RCV000014552]|Hypophosphatemic Rickets, Recessive [RCV000296282]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001662330]|Hypopigmentation-punctate palmoplantar keratoderma syndrome [RCV001662331]|Obesity [RCV000033196]|not provided [RCV001510114]|not specified [RCV000611151] Chr6:131882331 [GRCh38]
Chr6:132203471 [GRCh37]
Chr6:6q23.2
risk factor|benign
NM_006208.3(ENPP1):c.*1157C>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000311650]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000368934] Chr6:131891668 [GRCh38]
Chr6:131891668..131891669 [GRCh38]
Chr6:132212808 [GRCh37]
Chr6:132212808..132212809 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.*3724C>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000328720]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000364825] Chr6:131894235 [GRCh38]
Chr6:132215375 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.*2301A>G single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000386053]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000329189] Chr6:131892812 [GRCh38]
Chr6:132213952 [GRCh37]
Chr6:6q23.2
benign|likely benign
NM_006208.3(ENPP1):c.*1348T>C single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000369844]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000396557] Chr6:131891859 [GRCh38]
Chr6:132212999 [GRCh37]
Chr6:6q23.2
benign|likely benign
NM_006208.3(ENPP1):c.*4015G>A single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000281213]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000336169] Chr6:131894526 [GRCh38]
Chr6:132215666 [GRCh37]
Chr6:6q23.2
likely benign|uncertain significance
NM_006208.3(ENPP1):c.*1350G>A single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000354646]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000297712] Chr6:131891861 [GRCh38]
Chr6:132213001 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.154C>T (p.Pro52Ser) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000394356]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000364699]|not provided [RCV001850881] Chr6:131808189 [GRCh38]
Chr6:132129329 [GRCh37]
Chr6:6q23.2
likely benign|uncertain significance
NM_006208.3(ENPP1):c.*4248G>A single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000407143]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000296576] Chr6:131894759 [GRCh38]
Chr6:132215899 [GRCh37]
Chr6:6q23.2
benign|likely benign
NM_006208.3(ENPP1):c.*4571G>C single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000311889]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000366620] Chr6:131895082 [GRCh38]
Chr6:132216222 [GRCh37]
Chr6:6q23.2
benign|likely benign
NM_006208.3(ENPP1):c.*910C>G single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000387695]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000330783] Chr6:131891421 [GRCh38]
Chr6:132212561 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.313+9G>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000349493]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000396731]|not provided [RCV001511810] Chr6:131847857 [GRCh38]
Chr6:132168997 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.*1960C>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000407200]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000349951] Chr6:131892471 [GRCh38]
Chr6:132213611 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1540T>C (p.Leu514=) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000403002]|ENPP1-related disorder [RCV004530431]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000299047]|not provided [RCV002523546] Chr6:131873025 [GRCh38]
Chr6:132194165 [GRCh37]
Chr6:6q23.2
benign|likely benign|uncertain significance
NM_006208.3(ENPP1):c.1798T>C (p.Tyr600His) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000299220]|Arterial calcification, generalized, of infancy, 1 [RCV002487560]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000358813]|Inborn genetic diseases [RCV002520407]|not provided [RCV002523547] Chr6:131877066 [GRCh38]
Chr6:132198206 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*1236G>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000318953]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000376017] Chr6:131891747 [GRCh38]
Chr6:132212887 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.*3528C>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000283157]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000392301] Chr6:131894039 [GRCh38]
Chr6:132215179 [GRCh37]
Chr6:6q23.2
likely benign|uncertain significance
NM_006208.3(ENPP1):c.2124C>A (p.Phe708Leu) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000405055]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000283060]|not provided [RCV000949304] Chr6:131882368 [GRCh38]
Chr6:132203508 [GRCh37]
Chr6:6q23.2
benign|likely benign
NM_006208.3(ENPP1):c.*2036A>G single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000403388]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000299566] Chr6:131892547 [GRCh38]
Chr6:132213687 [GRCh37]
Chr6:6q23.2
benign|likely benign
NM_006208.3(ENPP1):c.313+9GT[18] microsatellite Arterial calcification, generalized, of infancy, 1 [RCV000342935]|Hypophosphatemic Rickets, Recessive [RCV000378820]|not provided [RCV001515717] Chr6:131847857..131847858 [GRCh38]
Chr6:132168997..132168998 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.*3017C>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000343486]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000390712] Chr6:131893528 [GRCh38]
Chr6:132214668 [GRCh37]
Chr6:6q23.2
benign|likely benign
NM_006208.3(ENPP1):c.313+8_313+9insTT insertion Arterial calcification, generalized, of infancy, 1 [RCV000318437]|Hypophosphatemic Rickets, Recessive [RCV000263217]|not provided [RCV001453349] Chr6:131847856..131847857 [GRCh38]
Chr6:132168996..132168997 [GRCh37]
Chr6:6q23.2
likely benign|uncertain significance
NM_006208.3(ENPP1):c.1946-14T>C single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000270764]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000359994] Chr6:131879866 [GRCh38]
Chr6:132201006 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.313+9_313+10insGGTG insertion Arterial calcification, generalized, of infancy, 1 [RCV000330273]|Hypophosphatemic Rickets, Recessive [RCV000275274]|not provided [RCV001046162] Chr6:131847856..131847857 [GRCh38]
Chr6:132168996..132168997 [GRCh37]
Chr6:6q23.2
conflicting interpretations of pathogenicity|uncertain significance
NM_006208.3(ENPP1):c.313+8_313+9insTTGTGT insertion Arterial calcification, generalized, of infancy, 1 [RCV000283267]|Hypophosphatemic Rickets, Recessive [RCV000377747]|not provided [RCV001444874]|not specified [RCV001731628] Chr6:131847856..131847857 [GRCh38]
Chr6:132168996..132168997 [GRCh37]
Chr6:6q23.2
likely benign|uncertain significance
NM_006208.3(ENPP1):c.*2835_*2837del deletion Arterial calcification, generalized, of infancy, 1 [RCV000340032]|Hypophosphatemic Rickets, Recessive [RCV000282646] Chr6:131893344..131893346 [GRCh38]
Chr6:132214484..132214486 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.1756G>A (p.Gly586Arg) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000022723]|Arterial calcification, generalized, of infancy, 1 [RCV005044526]|not provided [RCV000378449] Chr6:131877024 [GRCh38]
Chr6:132198164 [GRCh37]
Chr6:6q23.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006208.3(ENPP1):c.*1236_*1238del deletion Arterial calcification, generalized, of infancy, 1 [RCV000261447]|Hypophosphatemic Rickets, Recessive [RCV000353794]|not provided [RCV004695905] Chr6:131891746..131891748 [GRCh38]
Chr6:132212886..132212888 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*888C>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000273345]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000384660] Chr6:131891399 [GRCh38]
Chr6:132212539 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2088C>T (p.Thr696=) single nucleotide variant not provided [RCV000320138] Chr6:131880022 [GRCh38]
Chr6:132201162 [GRCh37]
Chr6:6q23.2
conflicting interpretations of pathogenicity|uncertain significance
NM_006208.3(ENPP1):c.313+9GT[20] microsatellite Arterial calcification, generalized, of infancy, 1 [RCV000276385]|Hypophosphatemic Rickets, Recessive [RCV000370919]|not provided [RCV000948318]|not specified [RCV001731627] Chr6:131847856..131847857 [GRCh38]
Chr6:132168996..132168997 [GRCh37]
Chr6:6q23.2
benign|uncertain significance
NM_006208.3(ENPP1):c.1437+9_1437+12del deletion Arterial calcification, generalized, of infancy, 1 [RCV002502124]|not provided [RCV000961745]|not specified [RCV000322385] Chr6:131872109..131872112 [GRCh38]
Chr6:132193250..132193253 [GRCh37]
Chr6:6q23.2
benign|likely benign|uncertain significance
NM_006208.3(ENPP1):c.2633T>C (p.Val878Ala) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005003604]|ENPP1-related disorder [RCV004734914]|Inborn genetic diseases [RCV004021077]|not provided [RCV000366895] Chr6:131890366 [GRCh38]
Chr6:132211506 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*2130C>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000307068]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000268246] Chr6:131892641 [GRCh38]
Chr6:132213781 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.21G>T (p.Ala7=) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000302949]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000394364] Chr6:131808056 [GRCh38]
Chr6:132129196 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1296G>C (p.Lys432Asn) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000326770]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000292025] Chr6:131869380 [GRCh38]
Chr6:132190520 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*2129T>C single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000360599]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000303079] Chr6:131892640 [GRCh38]
Chr6:132213780 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*3126C>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000303770]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000358454] Chr6:131893637 [GRCh38]
Chr6:132214777 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*1795A>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000384569]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000292672] Chr6:131892306 [GRCh38]
Chr6:132213446 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.313+9GT[22] microsatellite Arterial calcification, generalized, of infancy, 1 [RCV000317417]|Hypophosphatemic Rickets, Recessive [RCV000371891]|not provided [RCV001516644] Chr6:131847856..131847857 [GRCh38]
Chr6:132168996..132168997 [GRCh37]
Chr6:6q23.2
benign|uncertain significance
NM_006208.3(ENPP1):c.*3242TTCTT[4] microsatellite Arterial calcification, generalized, of infancy, 1 [RCV000333912]|Hypophosphatemic Rickets, Recessive [RCV000388434] Chr6:131893751..131893752 [GRCh38]
Chr6:132214891..132214892 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.*1256dup duplication Arterial calcification, generalized, of infancy, 1 [RCV000283873]|Hypophosphatemic Rickets, Recessive [RCV000321419] Chr6:131891748..131891749 [GRCh38]
Chr6:132212888..132212889 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*4586G>A single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000404113]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000307454] Chr6:131895097 [GRCh38]
Chr6:132216237 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*3615dup duplication Arterial calcification, generalized, of infancy, 1 [RCV000298017]|Hypophosphatemic Rickets, Recessive [RCV000353447] Chr6:131894120..131894121 [GRCh38]
Chr6:132215260..132215261 [GRCh37]
Chr6:6q23.2
benign
NC_000006.12:g.131808012G>C single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000273887]|ENPP1-related disorder [RCV004544720]|Hypophosphatemic Rickets, Recessive [RCV000319599]|not provided [RCV004705518] Chr6:131808012 [GRCh38]
Chr6:132129152 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2449AGA[1] (p.Arg818del) microsatellite not provided [RCV001052058] Chr6:131886565..131886567 [GRCh38]
Chr6:132207705..132207707 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.313+9GT[17] microsatellite Arterial calcification, generalized, of infancy, 1 [RCV000343673]|Hypophosphatemic Rickets, Recessive [RCV000289088]|not provided [RCV000950717]|not specified [RCV000502880] Chr6:131847857..131847860 [GRCh38]
Chr6:132168997..132169000 [GRCh37]
Chr6:6q23.2
benign|likely benign|uncertain significance
NM_006208.3(ENPP1):c.*3450T>C single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000326833]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000381054] Chr6:131893961 [GRCh38]
Chr6:132215101 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*3468del deletion Arterial calcification, generalized, of infancy, 1 [RCV000384940]|Hypophosphatemic Rickets, Recessive [RCV000290507] Chr6:131893950 [GRCh38]
Chr6:132215090 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*1290T>A single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000347954]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000290766] Chr6:131891801 [GRCh38]
Chr6:132212941 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*459G>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000358699]|Hypophosphatemic Rickets, Recessive [RCV000301486] Chr6:131890970 [GRCh38]
Chr6:132212110 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*1257del deletion Arterial calcification, generalized, of infancy, 1 [RCV000344604]|Hypophosphatemic Rickets, Recessive [RCV000392726] Chr6:131891768 [GRCh38]
Chr6:132212908 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*3885C>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001157941]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001152472] Chr6:131894396 [GRCh38]
Chr6:132215536 [GRCh37]
Chr6:6q23.2
uncertain significance
GRCh37/hg19 6q23.2(chr6:131703293-132212694)x3 copy number gain See cases [RCV000599566] Chr6:131703293..132212694 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.313+9_313+15del deletion not specified [RCV000596494] Chr6:131847856..131847862 [GRCh38]
Chr6:132168997..132169003 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2624C>T (p.Ser875Phe) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001153012]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001153013]|not provided [RCV000731904] Chr6:131890357 [GRCh38]
Chr6:132211497 [GRCh37]
Chr6:6q23.2
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 6q23.2(chr6:131624204-132219490)x3 copy number gain See cases [RCV000447116] Chr6:131624204..132219490 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1652A>G (p.Tyr551Cys) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000679979]|Dystonia 28, childhood-onset [RCV004813131]|not provided [RCV001233251] Chr6:131875792 [GRCh38]
Chr6:132196932 [GRCh37]
Chr6:6q23.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006208.3(ENPP1):c.2330A>G (p.His777Arg) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000679980]|Arterial calcification, generalized, of infancy, 1 [RCV005004359]|Inborn genetic diseases [RCV004619377]|not provided [RCV002532187]|not specified [RCV003403571] Chr6:131884949 [GRCh38]
Chr6:132206089 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.913C>T (p.Pro305Ser) single nucleotide variant not provided [RCV000481485] Chr6:131860504 [GRCh38]
Chr6:132181644 [GRCh37]
Chr6:6q23.2
likely pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_006208.3(ENPP1):c.2336C>A (p.Thr779Asn) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001151766]|Arterial calcification, generalized, of infancy, 1 [RCV005398720]|ENPP1-related disorder [RCV004535592]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001151765]|not provided [RCV000904919]|not specified [RCV000499822] Chr6:131884955 [GRCh38]
Chr6:132206095 [GRCh37]
Chr6:6q23.2
benign|likely benign|uncertain significance
GRCh37/hg19 6q23.2(chr6:131605284-132219490)x1 copy number loss See cases [RCV000511614] Chr6:131605284..132219490 [GRCh37]
Chr6:6q23.2
likely benign
GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626432] Chr6:112939290..132327952 [GRCh37]
Chr6:6q21-23.2
drug response
NM_006208.3(ENPP1):c.1565+2dup duplication not provided [RCV000594307] Chr6:131873051..131873052 [GRCh38]
Chr6:132194191..132194192 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2007C>A (p.Asn669Lys) single nucleotide variant ENPP1-related disorder [RCV004529616]|Inborn genetic diseases [RCV003247543] Chr6:131879941 [GRCh38]
Chr6:132201081 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1038T>G (p.Phe346Leu) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005036716]|Inborn genetic diseases [RCV003279287]|not provided [RCV003730487] Chr6:131864518 [GRCh38]
Chr6:132185658 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.288del (p.Gly96_Leu97insTer) deletion not provided [RCV000593741] Chr6:131847821 [GRCh38]
Chr6:132168961 [GRCh37]
Chr6:6q23.2
pathogenic
NM_006208.3(ENPP1):c.430+1del deletion Hypophosphatemic rickets, autosomal recessive, 2 [RCV000513219] Chr6:131850106 [GRCh38]
Chr6:132171246 [GRCh37]
Chr6:6q23.2
pathogenic
NM_006208.3(ENPP1):c.1441C>T (p.Arg481Trp) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000660584]|Arterial calcification, generalized, of infancy, 1 [RCV000779491]|Arterial calcification, generalized, of infancy, 1 [RCV005046849]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001157114]|not provided [RCV001855391] Chr6:131872926 [GRCh38]
Chr6:132194066 [GRCh37]
Chr6:6q23.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006208.3(ENPP1):c.1503del (p.Phe501fs) deletion not provided [RCV001781035] Chr6:131872986 [GRCh38]
Chr6:132194126 [GRCh37]
Chr6:6q23.2
likely pathogenic
GRCh37/hg19 6q23.2-23.3(chr6:131388023-137469640)x1 copy number loss not provided [RCV000682724] Chr6:131388023..137469640 [GRCh37]
Chr6:6q23.2-23.3
pathogenic
GRCh37/hg19 6q23.2-23.3(chr6:132002460-137160850)x1 copy number loss not provided [RCV000682725] Chr6:132002460..137160850 [GRCh37]
Chr6:6q23.2-23.3
pathogenic
NM_006208.3(ENPP1):c.1165-99G>C single nucleotide variant not provided [RCV001548543] Chr6:131867919 [GRCh38]
Chr6:132189059 [GRCh37]
Chr6:6q23.2
likely benign
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6q23.2(chr6:131957855-132424554)x3 copy number gain not provided [RCV000746036] Chr6:131957855..132424554 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.1025+291C>T single nucleotide variant not provided [RCV001583297] Chr6:131861995 [GRCh38]
Chr6:132183135 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.1636-202A>C single nucleotide variant not provided [RCV001667241] Chr6:131875574 [GRCh38]
Chr6:132196714 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.556+236C>T single nucleotide variant not provided [RCV001708090] Chr6:131851503 [GRCh38]
Chr6:132172643 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.1893+210C>T single nucleotide variant not provided [RCV001692744] Chr6:131877371 [GRCh38]
Chr6:132198511 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.2607+207T>C single nucleotide variant not provided [RCV001709323] Chr6:131886931 [GRCh38]
Chr6:132208071 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.916-151A>G single nucleotide variant not provided [RCV001645465] Chr6:131861444 [GRCh38]
Chr6:132182584 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.1636-58G>T single nucleotide variant not provided [RCV001708529] Chr6:131875718 [GRCh38]
Chr6:132196858 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.1565+290G>A single nucleotide variant not provided [RCV001707186] Chr6:131873340 [GRCh38]
Chr6:132194480 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.556+231G>A single nucleotide variant not provided [RCV001649063] Chr6:131851498 [GRCh38]
Chr6:132172638 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.1406-255A>G single nucleotide variant not provided [RCV001551448] Chr6:131871815 [GRCh38]
Chr6:132192955 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.1165-287A>G single nucleotide variant not provided [RCV001577780] Chr6:131867731 [GRCh38]
Chr6:132188871 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2607+101_2607+102insCTT insertion not provided [RCV001665216] Chr6:131886824..131886825 [GRCh38]
Chr6:132207964..132207965 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.2230+128TA[3] microsatellite not provided [RCV001692608] Chr6:131882602..131882605 [GRCh38]
Chr6:132203742..132203745 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.1066T>C (p.Trp356Arg) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000984993] Chr6:131864546 [GRCh38]
Chr6:132185686 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.241-138C>T single nucleotide variant not provided [RCV001645571] Chr6:131847638 [GRCh38]
Chr6:132168778 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.1164+9A>G single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005036250]|not provided [RCV000885188] Chr6:131864947 [GRCh38]
Chr6:132186087 [GRCh37]
Chr6:6q23.2
likely benign|uncertain significance
NM_006208.3(ENPP1):c.2462G>A (p.Arg821His) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001153011]|ENPP1-related disorder [RCV004535956]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001153010]|not provided [RCV000970455] Chr6:131886579 [GRCh38]
Chr6:132207719 [GRCh37]
Chr6:6q23.2
benign|conflicting interpretations of pathogenicity|uncertain significance
Single allele deletion Interstitial 6q microdeletion syndrome [RCV002280353] Chr6:115941808..133892653 [GRCh38]
Chr6:6q22.1-23.2
pathogenic
NM_006208.3(ENPP1):c.1000C>G (p.Pro334Ala) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000785867] Chr6:131861679 [GRCh38]
Chr6:132182819 [GRCh37]
Chr6:6q23.2
likely pathogenic
NM_006208.3(ENPP1):c.937C>T (p.Gln313Ter) single nucleotide variant ENPP1-related disorder [RCV000779490] Chr6:131861616 [GRCh38]
Chr6:132182756 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2231-1G>T single nucleotide variant ENPP1-related disorder [RCV000779492] Chr6:131883693 [GRCh38]
Chr6:132204833 [GRCh37]
Chr6:6q23.2
uncertain significance
GRCh37/hg19 6q22.33-23.2(chr6:129513837-132618991) copy number loss not provided [RCV000767715] Chr6:129513837..132618991 [GRCh37]
Chr6:6q22.33-23.2
likely pathogenic
NM_006208.3(ENPP1):c.120C>T (p.Pro40=) single nucleotide variant not provided [RCV000920507] Chr6:131808155 [GRCh38]
Chr6:132129295 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.1274-5C>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV002503020]|not provided [RCV000964474] Chr6:131869353 [GRCh38]
Chr6:132190493 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.556+8G>T single nucleotide variant ENPP1-related disorder [RCV004541776]|not provided [RCV000880024] Chr6:131851275 [GRCh38]
Chr6:132172415 [GRCh37]
Chr6:6q23.2
likely benign
GRCh37/hg19 6q23.2(chr6:131673206-132706248)x1 copy number loss not provided [RCV000848451] Chr6:131673206..132706248 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.443C>G (p.Thr148Ser) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001151586]|Arterial calcification, generalized, of infancy, 1 [RCV005036420]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001151585] Chr6:131851154 [GRCh38]
Chr6:132172294 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2079A>G (p.Thr693=) single nucleotide variant not provided [RCV000940545] Chr6:131880013 [GRCh38]
Chr6:132201153 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.1735T>G (p.Leu579Val) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005047262]|not provided [RCV001057958] Chr6:131877003 [GRCh38]
Chr6:132198143 [GRCh37]
Chr6:6q23.2
conflicting interpretations of pathogenicity|uncertain significance
NM_006208.3(ENPP1):c.*4620G>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001152573]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001158047] Chr6:131895131 [GRCh38]
Chr6:132216271 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*128C>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001151881]|Arterial calcification, generalized, of infancy, 1 [RCV002483889]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001151880] Chr6:131890639 [GRCh38]
Chr6:132211779 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*671T>C single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001151966]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001151967] Chr6:131891182 [GRCh38]
Chr6:132212322 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*1105T>C single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001152066]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001152067] Chr6:131891616 [GRCh38]
Chr6:132212756 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*2073C>G single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001152282]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001157763] Chr6:131892584 [GRCh38]
Chr6:132213724 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*3920G>A single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001152475]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001152476] Chr6:131894431 [GRCh38]
Chr6:132215571 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*150G>A single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001151882]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001151883] Chr6:131890661 [GRCh38]
Chr6:132211801 [GRCh37]
Chr6:6q23.2
likely benign
GRCh37/hg19 6q23.2(chr6:131958069-132444234)x3 copy number gain not provided [RCV000848075] Chr6:131958069..132444234 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2101-2A>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000995539] Chr6:131882343 [GRCh38]
Chr6:132203483 [GRCh37]
Chr6:6q23.2
pathogenic
NM_006208.3(ENPP1):c.*1864T>C single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001156048]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001156049] Chr6:131892375 [GRCh38]
Chr6:132213515 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*804A>G single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001153229]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001153230] Chr6:131891315 [GRCh38]
Chr6:132212455 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.*1224A>G single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001153330]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001155944] Chr6:131891735 [GRCh38]
Chr6:132212875 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.*2966C>G single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001157857]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001156180] Chr6:131893477 [GRCh38]
Chr6:132214617 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2191A>T (p.Asn731Tyr) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001157229]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001157228]|not provided [RCV003727922] Chr6:131882435 [GRCh38]
Chr6:132203575 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*103A>G single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001157322]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001157321] Chr6:131890614 [GRCh38]
Chr6:132211754 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1998G>A (p.Gln666=) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001154710]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001155541]|not provided [RCV002559489] Chr6:131879932 [GRCh38]
Chr6:132201072 [GRCh37]
Chr6:6q23.2
likely benign|uncertain significance
NM_006208.3(ENPP1):c.685G>A (p.Gly229Ser) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001155433]|Arterial calcification, generalized, of infancy, 1 [RCV002505733]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001155434]|not provided [RCV002032433] Chr6:131854993 [GRCh38]
Chr6:132176133 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1091+76C>A single nucleotide variant not provided [RCV001568284] Chr6:131864647 [GRCh38]
Chr6:132185787 [GRCh37]
Chr6:6q23.2
likely benign
NC_000006.12:g.131808001G>T single nucleotide variant not provided [RCV001570175] Chr6:131808001 [GRCh38]
Chr6:132129141 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.1025+268C>A single nucleotide variant not provided [RCV001615468] Chr6:131861972 [GRCh38]
Chr6:132183112 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.1091+35C>T single nucleotide variant not provided [RCV001616868] Chr6:131864606 [GRCh38]
Chr6:132185746 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.915+27T>G single nucleotide variant not provided [RCV001684609] Chr6:131860533 [GRCh38]
Chr6:132181673 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.314-64G>A single nucleotide variant not provided [RCV001652951] Chr6:131849926 [GRCh38]
Chr6:132171066 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.2607+206_2607+207insC insertion not provided [RCV001676426] Chr6:131886930..131886931 [GRCh38]
Chr6:132208070..132208071 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.1894-279A>G single nucleotide variant not provided [RCV001541260] Chr6:131878263 [GRCh38]
Chr6:132199403 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.1893+141G>A single nucleotide variant not provided [RCV001677750] Chr6:131877302 [GRCh38]
Chr6:132198442 [GRCh37]
Chr6:6q23.2
benign
NC_000006.12:g.131807832C>T single nucleotide variant not provided [RCV001559616] Chr6:131807832 [GRCh38]
Chr6:132128972 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.1893+127T>A single nucleotide variant not provided [RCV001620903] Chr6:131877288 [GRCh38]
Chr6:132198428 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.1068G>A (p.Trp356Ter) single nucleotide variant Coronary sclerosis, medial, of infancy [RCV000853320] Chr6:131864548 [GRCh38]
Chr6:132185688 [GRCh37]
Chr6:6q23.2
pathogenic
NM_006208.3(ENPP1):c.313+9GT[21] microsatellite not provided [RCV000952909]|not specified [RCV001726382] Chr6:131847856..131847857 [GRCh38]
Chr6:132168996..132168997 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.1653T>C (p.Tyr551=) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001151666]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001151667]|not provided [RCV000907273] Chr6:131875793 [GRCh38]
Chr6:132196933 [GRCh37]
Chr6:6q23.2
likely benign|uncertain significance
NM_006208.3(ENPP1):c.860C>T (p.Ser287Phe) single nucleotide variant not provided [RCV000909187]|not specified [RCV004526048] Chr6:131860451 [GRCh38]
Chr6:132181591 [GRCh37]
Chr6:6q23.2
likely benign|uncertain significance
NM_006208.3(ENPP1):c.750G>C (p.Pro250=) single nucleotide variant not provided [RCV000928603] Chr6:131858702 [GRCh38]
Chr6:132179842 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.522C>T (p.Gly174=) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001154594]|ENPP1-related disorder [RCV004531000]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001154593]|not provided [RCV000896125] Chr6:131851233 [GRCh38]
Chr6:132172373 [GRCh37]
Chr6:6q23.2
benign|likely benign|uncertain significance
NM_006208.3(ENPP1):c.*4507A>G single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001158046]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001158045] Chr6:131895018 [GRCh38]
Chr6:132216158 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*3602C>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001153661]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001153662] Chr6:131894113 [GRCh38]
Chr6:132215253 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2415A>T (p.Gly805=) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001153007]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001151769]|not provided [RCV002557275]|not specified [RCV004587053] Chr6:131885034 [GRCh38]
Chr6:132206174 [GRCh37]
Chr6:6q23.2
risk factor|likely benign|uncertain significance
NM_006208.3(ENPP1):c.*1125G>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001152069]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001152068] Chr6:131891636 [GRCh38]
Chr6:132212776 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*3718C>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001156263]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001156264] Chr6:131894229 [GRCh38]
Chr6:132215369 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.313+11G>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001156997]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001156998]|not provided [RCV001415167] Chr6:131847859 [GRCh38]
Chr6:132168999 [GRCh37]
Chr6:6q23.2
likely benign|uncertain significance
NM_006208.3(ENPP1):c.*1307T>G single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001157644]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001157645]|not provided [RCV004707562] Chr6:131891818 [GRCh38]
Chr6:132212958 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.626C>T (p.Thr209Met) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005005098]|not provided [RCV001225488] Chr6:131854934 [GRCh38]
Chr6:132176074 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1699A>G (p.Ile567Val) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV002480823]|not provided [RCV001244168] Chr6:131875839 [GRCh38]
Chr6:132196979 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.750G>A (p.Pro250=) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV002501458]|not provided [RCV000890358]|not specified [RCV004689917] Chr6:131858702 [GRCh38]
Chr6:132179842 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.915+10T>C single nucleotide variant not provided [RCV000911302] Chr6:131860516 [GRCh38]
Chr6:132181656 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.1776C>T (p.Asn592=) single nucleotide variant not provided [RCV000911784]|not specified [RCV005236430] Chr6:131877044 [GRCh38]
Chr6:132198184 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.999C>T (p.Phe333=) single nucleotide variant not provided [RCV002613475] Chr6:131861678 [GRCh38]
Chr6:132182818 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.431-95T>C single nucleotide variant not provided [RCV001677109] Chr6:131851047 [GRCh38]
Chr6:132172187 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.2101-215G>A single nucleotide variant not provided [RCV001562901] Chr6:131882130 [GRCh38]
Chr6:132203270 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2101-286_2101-285insAAAA insertion not provided [RCV001597908] Chr6:131882058..131882059 [GRCh38]
Chr6:132203198..132203199 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.1946-325C>A single nucleotide variant not provided [RCV001595229] Chr6:131879555 [GRCh38]
Chr6:132200695 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.1893+271C>T single nucleotide variant not provided [RCV001595369] Chr6:131877432 [GRCh38]
Chr6:132198572 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.1565+283C>T single nucleotide variant not provided [RCV001552343] Chr6:131873333 [GRCh38]
Chr6:132194473 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.827A>G (p.Asp276Gly) single nucleotide variant Type 2 diabetes mellitus [RCV001809162]|not provided [RCV005095222] Chr6:131860418 [GRCh38]
Chr6:132181558 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.796-219A>T single nucleotide variant not provided [RCV001658476] Chr6:131860168 [GRCh38]
Chr6:132181308 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.2101-313AATA[8] microsatellite not provided [RCV001620406] Chr6:131882031..131882032 [GRCh38]
Chr6:132203171..132203172 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.795+141T>C single nucleotide variant not provided [RCV001656518] Chr6:131858888 [GRCh38]
Chr6:132180028 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.1405+236A>G single nucleotide variant not provided [RCV001654074] Chr6:131869725 [GRCh38]
Chr6:132190865 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.1894-67G>A single nucleotide variant not provided [RCV001596780] Chr6:131878475 [GRCh38]
Chr6:132199615 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.1405+235C>T single nucleotide variant not provided [RCV001723167] Chr6:131869724 [GRCh38]
Chr6:132190864 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.1165-103C>G single nucleotide variant not provided [RCV001589500] Chr6:131867915 [GRCh38]
Chr6:132189055 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.1565+236C>G single nucleotide variant not provided [RCV001659406] Chr6:131873286 [GRCh38]
Chr6:132194426 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.313+11_313+13del deletion not provided [RCV001686380] Chr6:131847859..131847861 [GRCh38]
Chr6:132168999..132169001 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.1894-204C>G single nucleotide variant not provided [RCV001616899] Chr6:131878338 [GRCh38]
Chr6:132199478 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.2231-209C>G single nucleotide variant not provided [RCV001688768] Chr6:131883485 [GRCh38]
Chr6:132204625 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.1945+310G>C single nucleotide variant not provided [RCV001674214] Chr6:131878903 [GRCh38]
Chr6:132200043 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.1025+71T>C single nucleotide variant not provided [RCV001673456] Chr6:131861775 [GRCh38]
Chr6:132182915 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.556+197T>C single nucleotide variant not provided [RCV001657206] Chr6:131851464 [GRCh38]
Chr6:132172604 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.1025+234G>A single nucleotide variant not provided [RCV001595222] Chr6:131861938 [GRCh38]
Chr6:132183078 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.*516T>C single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001155733]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001155732] Chr6:131891027 [GRCh38]
Chr6:132212167 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*4471C>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001156376]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001158044] Chr6:131894982 [GRCh38]
Chr6:132216122 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*4369C>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001156375]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001156374] Chr6:131894880 [GRCh38]
Chr6:132216020 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2380G>A (p.Val794Ile) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001151767]|Arterial calcification, generalized, of infancy, 1 [RCV002480549]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001151768]|Inborn genetic diseases [RCV003259123]|not provided [RCV001858994] Chr6:131884999 [GRCh38]
Chr6:132206139 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*120C>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001157323]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001157324] Chr6:131890631 [GRCh38]
Chr6:132211771 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.10G>A (p.Asp4Asn) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001154493]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001154494] Chr6:131808045 [GRCh38]
Chr6:132129185 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*1525T>G single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001152178]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001152179] Chr6:131892036 [GRCh38]
Chr6:132213176 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2444+10T>C single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001153008]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001153009]|not provided [RCV002557296] Chr6:131885073 [GRCh38]
Chr6:132206213 [GRCh37]
Chr6:6q23.2
likely benign|uncertain significance
NM_006208.3(ENPP1):c.*392G>A single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001153123]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001153124] Chr6:131890903 [GRCh38]
Chr6:132212043 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*1618A>G single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001153460]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001153461] Chr6:131892129 [GRCh38]
Chr6:132213269 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.601C>T (p.Pro201Ser) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001154598]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001154597] Chr6:131852219 [GRCh38]
Chr6:132173359 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*400C>A single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001153126]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001153125] Chr6:131890911 [GRCh38]
Chr6:132212051 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.*848T>C single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001155825]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001153231] Chr6:131891359 [GRCh38]
Chr6:132212499 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*2543T>G single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001153559]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001153560] Chr6:131893054 [GRCh38]
Chr6:132214194 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*4332C>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001156372]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001156373] Chr6:131894843 [GRCh38]
Chr6:132215983 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.536A>G (p.Asn179Ser) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001154596]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001154595]|not provided [RCV002557320] Chr6:131851247 [GRCh38]
Chr6:132172387 [GRCh37]
Chr6:6q23.2
likely benign|uncertain significance
NM_006208.3(ENPP1):c.214C>T (p.Pro72Ser) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001156996]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001155323] Chr6:131808249 [GRCh38]
Chr6:132129389 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1274-94C>T single nucleotide variant not provided [RCV001614063] Chr6:131869264 [GRCh38]
Chr6:132190404 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.*657A>G single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001151965]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001157437] Chr6:131891168 [GRCh38]
Chr6:132212308 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2608-116C>T single nucleotide variant not provided [RCV001611948] Chr6:131890225 [GRCh38]
Chr6:132211365 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.2607+206T>C single nucleotide variant not provided [RCV001671339] Chr6:131886930 [GRCh38]
Chr6:132208070 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.314-124C>G single nucleotide variant not provided [RCV001585142] Chr6:131849866 [GRCh38]
Chr6:132171006 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2608-63A>G single nucleotide variant not provided [RCV001708531] Chr6:131890278 [GRCh38]
Chr6:132211418 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.1893+272G>A single nucleotide variant not provided [RCV001707314] Chr6:131877433 [GRCh38]
Chr6:132198573 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.1164+222C>G single nucleotide variant not provided [RCV001691349] Chr6:131865160 [GRCh38]
Chr6:132186300 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.1165-210T>C single nucleotide variant not provided [RCV001680132] Chr6:131867808 [GRCh38]
Chr6:132188948 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.1406-216A>T single nucleotide variant not provided [RCV001663223] Chr6:131871854 [GRCh38]
Chr6:132192994 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.715+146G>A single nucleotide variant not provided [RCV001645157] Chr6:131855169 [GRCh38]
Chr6:132176309 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.1769G>A (p.Ser590Asn) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001089983]|not provided [RCV002557943] Chr6:131877037 [GRCh38]
Chr6:132198177 [GRCh37]
Chr6:6q23.2
likely pathogenic|uncertain significance
NC_000006.12:g.131807700C>T single nucleotide variant not provided [RCV001527882] Chr6:131807700 [GRCh38]
Chr6:132128840 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.1091+131G>A single nucleotide variant not provided [RCV001709981] Chr6:131864702 [GRCh38]
Chr6:132185842 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.1946-94A>G single nucleotide variant not provided [RCV001613618] Chr6:131879786 [GRCh38]
Chr6:132200926 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.2101-53A>G single nucleotide variant not provided [RCV001614793] Chr6:131882292 [GRCh38]
Chr6:132203432 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.1438-110A>G single nucleotide variant not provided [RCV001671579] Chr6:131872813 [GRCh38]
Chr6:132193953 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.1437+1G>T single nucleotide variant not provided [RCV001233250] Chr6:131872102 [GRCh38]
Chr6:132193242 [GRCh37]
Chr6:6q23.2
pathogenic|likely pathogenic
NM_006208.3(ENPP1):c.1437+3_1437+6del deletion Arterial calcification, generalized, of infancy, 1 [RCV002481948]|not provided [RCV001049351] Chr6:131872102..131872105 [GRCh38]
Chr6:132193242..132193245 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*3919C>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001152473]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001152474] Chr6:131894430 [GRCh38]
Chr6:132215570 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*4014C>A single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001152478]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001152477] Chr6:131894525 [GRCh38]
Chr6:132215665 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.157A>G (p.Met53Val) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001155322]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001155321] Chr6:131808192 [GRCh38]
Chr6:132129332 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.313+13G>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001151582]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001156999]|not provided [RCV001506544] Chr6:131847861 [GRCh38]
Chr6:132169001 [GRCh37]
Chr6:6q23.2
likely benign|uncertain significance
NM_006208.3(ENPP1):c.313+15G>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001151584]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001151583]|not provided [RCV002070837] Chr6:131847863 [GRCh38]
Chr6:132169003 [GRCh37]
Chr6:6q23.2
likely benign|uncertain significance
NM_006208.3(ENPP1):c.1724-5T>G single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001151668]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001151669] Chr6:131876987 [GRCh38]
Chr6:132198127 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*1716G>A single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001153462]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001153463] Chr6:131892227 [GRCh38]
Chr6:132213367 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*3600G>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001153660]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001153659] Chr6:131894111 [GRCh38]
Chr6:132215251 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.313+11_313+15del deletion Arterial calcification, generalized, of infancy, 1 [RCV002504223]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001195975] Chr6:131847859..131847863 [GRCh38]
Chr6:132168999..132169003 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.*3879A>G single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001157940]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001157939] Chr6:131894390 [GRCh38]
Chr6:132215530 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.544T>G (p.Ser182Ala) single nucleotide variant not provided [RCV001036086] Chr6:131851255 [GRCh38]
Chr6:132172395 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*4047C>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001153748]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001153749] Chr6:131894558 [GRCh38]
Chr6:132215698 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*4064T>C single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001153751]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001153750] Chr6:131894575 [GRCh38]
Chr6:132215715 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.2376T>A (p.Asn792Lys) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001089998]|Arterial calcification, generalized, of infancy, 1 [RCV005047300]|not provided [RCV001862668]|not specified [RCV004587043] Chr6:131884995 [GRCh38]
Chr6:132206135 [GRCh37]
Chr6:6q23.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006208.3(ENPP1):c.*902G>A single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001155827]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001155826] Chr6:131891413 [GRCh38]
Chr6:132212553 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*1239T>C single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001155946]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001155945] Chr6:131891750 [GRCh38]
Chr6:132212890 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*477A>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001155731]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001155730] Chr6:131890988 [GRCh38]
Chr6:132212128 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.1889C>A (p.Pro630His) single nucleotide variant not provided [RCV001214031] Chr6:131877157 [GRCh38]
Chr6:132198297 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*2564A>G single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001153561]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001156179] Chr6:131893075 [GRCh38]
Chr6:132214215 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*4287G>A single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001156371]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001153752] Chr6:131894798 [GRCh38]
Chr6:132215938 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*577G>A single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001157436]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001157435] Chr6:131891088 [GRCh38]
Chr6:132212228 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.614C>A (p.Ala205Glu) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001155432]|Arterial calcification, generalized, of infancy, 1 [RCV005005056]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001154599]|Inborn genetic diseases [RCV002559488]|not provided [RCV002032425] Chr6:131852232 [GRCh38]
Chr6:132173372 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1893+57T>C single nucleotide variant not provided [RCV001641375] Chr6:131877218 [GRCh38]
Chr6:132198358 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.1391A>G (p.Asp464Gly) single nucleotide variant Hypopigmentation-punctate palmoplantar keratoderma syndrome [RCV001262160] Chr6:131869475 [GRCh38]
Chr6:132190615 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2344C>T (p.Arg782Ter) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001536097]|ENPP1-related disorder [RCV003388023]|not provided [RCV003558835] Chr6:131884963 [GRCh38]
Chr6:132206103 [GRCh37]
Chr6:6q23.2
pathogenic
NM_006208.3(ENPP1):c.556G>C (p.Gly186Arg) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001270246] Chr6:131851267 [GRCh38]
Chr6:132172407 [GRCh37]
Chr6:6q23.2
pathogenic
NM_006208.3(ENPP1):c.1274-191G>A single nucleotide variant not provided [RCV001565154] Chr6:131869167 [GRCh38]
Chr6:132190307 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.1006del (p.Ile336fs) deletion not provided [RCV005137211] Chr6:131861685 [GRCh38]
Chr6:132182825 [GRCh37]
Chr6:6q23.2
pathogenic
NM_006208.3(ENPP1):c.845C>T (p.Pro282Leu) single nucleotide variant not provided [RCV001296910] Chr6:131860436 [GRCh38]
Chr6:132181576 [GRCh37]
Chr6:6q23.2
uncertain significance
NC_000006.11:g.(?_131894423)_(132211651_?)dup duplication Arginase deficiency [RCV001294718] Chr6:131894423..132211651 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1438-26T>C single nucleotide variant not provided [RCV001787504] Chr6:131872897 [GRCh38]
Chr6:132194037 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.484A>G (p.Ser162Gly) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001336927]|ENPP1-related disorder [RCV004531126] Chr6:131851195 [GRCh38]
Chr6:132172335 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1909G>C (p.Asp637His) single nucleotide variant not provided [RCV001360206] Chr6:131878557 [GRCh38]
Chr6:132199697 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.761del (p.Thr254fs) deletion not provided [RCV001781036] Chr6:131858713 [GRCh38]
Chr6:132179853 [GRCh37]
Chr6:6q23.2
likely pathogenic
NM_006208.3(ENPP1):c.749C>T (p.Pro250Leu) single nucleotide variant ENPP1-related disorder [RCV003336411]|not provided [RCV001390419] Chr6:131858701 [GRCh38]
Chr6:132179841 [GRCh37]
Chr6:6q23.2
pathogenic|likely pathogenic
NM_006208.3(ENPP1):c.313+9GT[15] microsatellite not provided [RCV001442174] Chr6:131847857..131847864 [GRCh38]
Chr6:132168997..132169004 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.618-20T>G single nucleotide variant not provided [RCV001512929] Chr6:131854906 [GRCh38]
Chr6:132176046 [GRCh37]
Chr6:6q23.2
benign|likely benign
NM_006208.3(ENPP1):c.313+8_313+9insTTGT insertion ENPP1-related disorder [RCV004540274]|not provided [RCV001410384] Chr6:131847856..131847857 [GRCh38]
Chr6:132168996..132168997 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.1636-254dup duplication not provided [RCV001655404] Chr6:131875513..131875514 [GRCh38]
Chr6:132196653..132196654 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.1894-123A>G single nucleotide variant not provided [RCV001709355] Chr6:131878419 [GRCh38]
Chr6:132199559 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.1437+154A>C single nucleotide variant not provided [RCV001684562] Chr6:131872255 [GRCh38]
Chr6:132193395 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.1165-76del deletion not provided [RCV001618971] Chr6:131867928 [GRCh38]
Chr6:132189068 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.2608-291T>C single nucleotide variant not provided [RCV001713666] Chr6:131890050 [GRCh38]
Chr6:132211190 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.314-346C>T single nucleotide variant not provided [RCV001675216] Chr6:131849644 [GRCh38]
Chr6:132170784 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.1164+234A>G single nucleotide variant not provided [RCV001715362] Chr6:131865172 [GRCh38]
Chr6:132186312 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.1945+246C>T single nucleotide variant not provided [RCV001713939] Chr6:131878839 [GRCh38]
Chr6:132199979 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.2607+199_2607+200insCATT insertion not provided [RCV001710522] Chr6:131886921..131886922 [GRCh38]
Chr6:132208061..132208062 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.2607+222del deletion not provided [RCV001692548] Chr6:131886927 [GRCh38]
Chr6:132208067 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.2230+28C>A single nucleotide variant not provided [RCV001590226] Chr6:131882502 [GRCh38]
Chr6:132203642 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.273T>G (p.Leu91=) single nucleotide variant not provided [RCV001473419] Chr6:131847808 [GRCh38]
Chr6:132168948 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.1274-8dup duplication not provided [RCV001523104] Chr6:131869340..131869341 [GRCh38]
Chr6:132190480..132190481 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.313+8_313+9dup duplication Arterial calcification, generalized, of infancy, 1 [RCV002501833]|ENPP1-related disorder [RCV004533944]|not provided [RCV001521186] Chr6:131847855..131847856 [GRCh38]
Chr6:132168995..132168996 [GRCh37]
Chr6:6q23.2
benign|likely benign
NM_006208.3(ENPP1):c.313+17G>T single nucleotide variant not provided [RCV001415619] Chr6:131847865 [GRCh38]
Chr6:132169005 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.990C>T (p.Asn330=) single nucleotide variant not provided [RCV001432533] Chr6:131861669 [GRCh38]
Chr6:132182809 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2445-5T>C single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV002501501]|ENPP1-related disorder [RCV004531288]|not provided [RCV001424485] Chr6:131886557 [GRCh38]
Chr6:132207697 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.1366C>T (p.Arg456Ter) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005042758]|Type 2 diabetes mellitus [RCV002249936] Chr6:131869450 [GRCh38]
Chr6:132190590 [GRCh37]
Chr6:6q23.2
pathogenic|likely pathogenic
NM_006208.3(ENPP1):c.2607+208T>C single nucleotide variant not provided [RCV001759022] Chr6:131886932 [GRCh38]
Chr6:132208072 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.511A>T (p.Lys171Ter) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV002273882] Chr6:131851222 [GRCh38]
Chr6:132172362 [GRCh37]
Chr6:6q23.2
pathogenic
NM_006208.3(ENPP1):c.570G>T (p.Trp190Cys) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV002273883] Chr6:131852188 [GRCh38]
Chr6:132173328 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.574del (p.Glu192fs) deletion Arterial calcification, generalized, of infancy, 1 [RCV002273884] Chr6:131852192 [GRCh38]
Chr6:132173332 [GRCh37]
Chr6:6q23.2
pathogenic
NM_006208.3(ENPP1):c.26dup (p.Gly10fs) duplication Arterial calcification, generalized, of infancy, 1 [RCV002273889] Chr6:131808055..131808056 [GRCh38]
Chr6:132129195..132129196 [GRCh37]
Chr6:6q23.2
pathogenic
NM_006208.3(ENPP1):c.208A>T (p.Lys70Ter) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV002273894] Chr6:131808243 [GRCh38]
Chr6:132129383 [GRCh37]
Chr6:6q23.2
pathogenic
NM_006208.3:c.(1091+1_1092-1)_(1164+1_1165-1)del deletion Arterial calcification, generalized, of infancy, 1 [RCV002273911]   pathogenic
NC_000006.12:g.131807976G>A single nucleotide variant not provided [RCV001779624] Chr6:131807976 [GRCh38]
Chr6:132129116 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2413G>A (p.Gly805Arg) single nucleotide variant not provided [RCV001988710] Chr6:131885032 [GRCh38]
Chr6:132206172 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1273+70A>T single nucleotide variant not provided [RCV001837679] Chr6:131868196 [GRCh38]
Chr6:132189336 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.236C>T (p.Ser79Leu) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005032069]|not provided [RCV001983645] Chr6:131808271 [GRCh38]
Chr6:132129411 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2741T>G (p.Leu914Trp) single nucleotide variant not provided [RCV001874374] Chr6:131890474 [GRCh38]
Chr6:132211614 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1564T>C (p.Leu522=) single nucleotide variant not provided [RCV001895786] Chr6:131873049 [GRCh38]
Chr6:132194189 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1376C>T (p.Pro459Leu) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005032111]|not provided [RCV002043267] Chr6:131869460 [GRCh38]
Chr6:132190600 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.580C>A (p.Pro194Thr) single nucleotide variant not provided [RCV002005591] Chr6:131852198 [GRCh38]
Chr6:132173338 [GRCh37]
Chr6:6q23.2
uncertain significance
GRCh37/hg19 6q23.2(chr6:131958038-132444269)x3 copy number gain not provided [RCV001834442] Chr6:131958038..132444269 [GRCh37]
Chr6:6q23.2
uncertain significance
GRCh37/hg19 6q23.1-23.3(chr6:130769034-136009217)x1 copy number loss not provided [RCV001829086] Chr6:130769034..136009217 [GRCh37]
Chr6:6q23.1-23.3
pathogenic
NM_006208.3(ENPP1):c.313+9GT[23] microsatellite not provided [RCV001908981] Chr6:131847856..131847857 [GRCh38]
Chr6:132168996..132168997 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.595A>G (p.Asn199Asp) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV002484451]|not provided [RCV001913611] Chr6:131852213 [GRCh38]
Chr6:132173353 [GRCh37]
Chr6:6q23.2
uncertain significance
GRCh37/hg19 6q23.2(chr6:131624204-132219490) copy number gain not specified [RCV002053623] Chr6:131624204..132219490 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.370G>A (p.Ala124Thr) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005032029]|Inborn genetic diseases [RCV002564408]|not provided [RCV001983155] Chr6:131850046 [GRCh38]
Chr6:132171186 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2252G>A (p.Gly751Glu) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005002698]|not provided [RCV001968099] Chr6:131883715 [GRCh38]
Chr6:132204855 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1352A>G (p.Tyr451Cys) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV002503525]|not provided [RCV001920169] Chr6:131869436 [GRCh38]
Chr6:132190576 [GRCh37]
Chr6:6q23.2
likely benign|uncertain significance
NM_006208.3(ENPP1):c.199C>G (p.Arg67Gly) single nucleotide variant ENPP1-related disorder [RCV004538719]|not provided [RCV001980800] Chr6:131808234 [GRCh38]
Chr6:132129374 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2114C>T (p.Thr705Met) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005031924]|Inborn genetic diseases [RCV002562038]|not provided [RCV001981871]|not specified [RCV005057801] Chr6:131882358 [GRCh38]
Chr6:132203498 [GRCh37]
Chr6:6q23.2
likely benign|uncertain significance
NM_006208.3(ENPP1):c.2379C>T (p.Val793=) single nucleotide variant not provided [RCV002112210] Chr6:131884998 [GRCh38]
Chr6:132206138 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2608-20_2608-18del deletion not provided [RCV002130522] Chr6:131890320..131890322 [GRCh38]
Chr6:132211460..132211462 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.210G>A (p.Lys70=) single nucleotide variant not provided [RCV002190482] Chr6:131808245 [GRCh38]
Chr6:132129385 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.313+9_313+11del deletion not provided [RCV002172978] Chr6:131847856..131847858 [GRCh38]
Chr6:132168996..132168998 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2311+8A>G single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV002498090]|not provided [RCV002080091] Chr6:131883782 [GRCh38]
Chr6:132204922 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.313+19G>T single nucleotide variant not provided [RCV002130756] Chr6:131847867 [GRCh38]
Chr6:132169007 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2733T>C (p.Ile911=) single nucleotide variant not provided [RCV002214760] Chr6:131890466 [GRCh38]
Chr6:132211606 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.716-15T>C single nucleotide variant not provided [RCV002154213] Chr6:131858653 [GRCh38]
Chr6:132179793 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.617+62T>C single nucleotide variant not provided [RCV002222810] Chr6:131852297 [GRCh38]
Chr6:132173437 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.796-40G>A single nucleotide variant not provided [RCV002222811] Chr6:131860347 [GRCh38]
Chr6:132181487 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.795+12A>G single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV002500444]|not provided [RCV002204347] Chr6:131858759 [GRCh38]
Chr6:132179899 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.1724-19C>T single nucleotide variant not provided [RCV002143262] Chr6:131876973 [GRCh38]
Chr6:132198113 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.313+8_313+9insTTGTGTGT insertion Arterial calcification, generalized, of infancy, 1 [RCV002500428]|not provided [RCV002201153] Chr6:131847856..131847857 [GRCh38]
Chr6:132168996..132168997 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2490C>T (p.His830=) single nucleotide variant not provided [RCV002219977] Chr6:131886607 [GRCh38]
Chr6:132207747 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.373G>A (p.Ala125Thr) single nucleotide variant not provided [RCV003113035] Chr6:131850049 [GRCh38]
Chr6:132171189 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.118C>A (p.Pro40Thr) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005036663]|not provided [RCV003121293] Chr6:131808153 [GRCh38]
Chr6:132129293 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.796G>A (p.Gly266Arg) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV002273885] Chr6:131860387 [GRCh38]
Chr6:132181527 [GRCh37]
Chr6:6q23.2
likely pathogenic
NC_000006.12:g.131688637_132215008del deletion Arterial calcification, generalized, of infancy, 1 [RCV002273892] Chr6:131688637..132215008 [GRCh38]
Chr6:6q23.2
pathogenic
NM_006208.3(ENPP1):c.2300del (p.Gln767fs) deletion Arterial calcification, generalized, of infancy, 1 [RCV002273896] Chr6:131883763 [GRCh38]
Chr6:132204903 [GRCh37]
Chr6:6q23.2
pathogenic
NM_006208.3(ENPP1):c.1273+1G>A single nucleotide variant Hypophosphatemic rickets, autosomal recessive, 2 [RCV002273913] Chr6:131868127 [GRCh38]
Chr6:132189267 [GRCh37]
Chr6:6q23.2
pathogenic
NM_006208.3(ENPP1):c.1026-59_1026-10del deletion Arterial calcification, generalized, of infancy, 1 [RCV002273886] Chr6:131864445..131864494 [GRCh38]
Chr6:132185585..132185634 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2664del (p.Ile889fs) deletion Arterial calcification, generalized, of infancy, 1 [RCV002273897] Chr6:131890396 [GRCh38]
Chr6:132211536 [GRCh37]
Chr6:6q23.2
pathogenic
NM_006208.3(ENPP1):c.1565+1G>T single nucleotide variant Type 2 diabetes mellitus [RCV002249041] Chr6:131873051 [GRCh38]
Chr6:132194191 [GRCh37]
Chr6:6q23.2
likely pathogenic
NM_006208.3(ENPP1):c.2741T>A (p.Leu914Ter) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV002273881] Chr6:131890474 [GRCh38]
Chr6:132211614 [GRCh37]
Chr6:6q23.2
pathogenic
NM_006208.3(ENPP1):c.2230C>T (p.Gln744Ter) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV002273887]|Arterial calcification, generalized, of infancy, 1 [RCV002273888] Chr6:131882474 [GRCh38]
Chr6:132203614 [GRCh37]
Chr6:6q23.2
pathogenic
NM_006208.3(ENPP1):c.196_197del (p.Ala66fs) microsatellite Arterial calcification, generalized, of infancy, 1 [RCV002273914]|Arterial calcification, generalized, of infancy, 1 [RCV002273915] Chr6:131808225..131808226 [GRCh38]
Chr6:132129365..132129366 [GRCh37]
Chr6:6q23.2
pathogenic
NM_006208.3(ENPP1):c.1499A>C (p.His500Pro) single nucleotide variant not provided [RCV002286584] Chr6:131872984 [GRCh38]
Chr6:132194124 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.915+1G>A single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV002273880] Chr6:131860507 [GRCh38]
Chr6:132181647 [GRCh37]
Chr6:6q23.2
pathogenic
NM_006208.3(ENPP1):c.1094del (p.Pro365fs) deletion Arterial calcification, generalized, of infancy, 1 [RCV002273912] Chr6:131864867 [GRCh38]
Chr6:132186007 [GRCh37]
Chr6:6q23.2
pathogenic
NM_006208.3(ENPP1):c.419G>T (p.Cys140Phe) single nucleotide variant not provided [RCV002286581] Chr6:131850095 [GRCh38]
Chr6:132171235 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.497G>A (p.Cys166Tyr) single nucleotide variant not provided [RCV002286582] Chr6:131851208 [GRCh38]
Chr6:132172348 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1604A>G (p.His535Arg) single nucleotide variant not provided [RCV002286585] Chr6:131874306 [GRCh38]
Chr6:132195446 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1028C>A (p.Ser343Ter) single nucleotide variant not provided [RCV002292447] Chr6:131864508 [GRCh38]
Chr6:132185648 [GRCh37]
Chr6:6q23.2
pathogenic
NM_006208.3(ENPP1):c.2317T>C (p.Trp773Arg) single nucleotide variant not provided [RCV002292070] Chr6:131884936 [GRCh38]
Chr6:132206076 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.796-2A>G single nucleotide variant not provided [RCV002292446] Chr6:131860385 [GRCh38]
Chr6:132181525 [GRCh37]
Chr6:6q23.2
likely pathogenic
NM_006208.3(ENPP1):c.787A>T (p.Ile263Phe) single nucleotide variant not provided [RCV002286583] Chr6:131858739 [GRCh38]
Chr6:132179879 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1025+192G>A single nucleotide variant not provided [RCV002293943] Chr6:131861896 [GRCh38]
Chr6:132183036 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.359G>C (p.Cys120Ser) single nucleotide variant not provided [RCV003129279] Chr6:131850035 [GRCh38]
Chr6:132171175 [GRCh37]
Chr6:6q23.2
likely pathogenic
NM_006208.3(ENPP1):c.383A>T (p.Glu128Val) single nucleotide variant not provided [RCV002295684] Chr6:131850059 [GRCh38]
Chr6:132171199 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1753A>G (p.Asn585Asp) single nucleotide variant not provided [RCV002296001] Chr6:131877021 [GRCh38]
Chr6:132198161 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.898T>A (p.Trp300Arg) single nucleotide variant ENPP1-related disorder [RCV004529126]|not provided [RCV002300249] Chr6:131860489 [GRCh38]
Chr6:132181629 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1576G>C (p.Glu526Gln) single nucleotide variant not provided [RCV002303069] Chr6:131874278 [GRCh38]
Chr6:132195418 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.916A>T (p.Ile306Phe) single nucleotide variant not provided [RCV002295149] Chr6:131861595 [GRCh38]
Chr6:132182735 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1802C>T (p.Thr601Met) single nucleotide variant Inborn genetic diseases [RCV002994681]|not provided [RCV003011116] Chr6:131877070 [GRCh38]
Chr6:132198210 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2427C>G (p.Ser809=) single nucleotide variant not provided [RCV003095718] Chr6:131885046 [GRCh38]
Chr6:132206186 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2740T>C (p.Leu914=) single nucleotide variant ENPP1-related disorder [RCV004545390]|not provided [RCV002775392] Chr6:131890473 [GRCh38]
Chr6:132211613 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2086A>G (p.Thr696Ala) single nucleotide variant not provided [RCV002685927] Chr6:131880020 [GRCh38]
Chr6:132201160 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2778A>G (p.Ter926Trp) single nucleotide variant not provided [RCV003034213] Chr6:131890511 [GRCh38]
Chr6:132211651 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2643G>A (p.Leu881=) single nucleotide variant ENPP1-related disorder [RCV004538812]|not provided [RCV002615523] Chr6:131890376 [GRCh38]
Chr6:132211516 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2047T>C (p.Tyr683His) single nucleotide variant Inborn genetic diseases [RCV004617095]|not provided [RCV002776092] Chr6:131879981 [GRCh38]
Chr6:132201121 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.155C>T (p.Pro52Leu) single nucleotide variant Inborn genetic diseases [RCV002864528] Chr6:131808190 [GRCh38]
Chr6:132129330 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2655C>T (p.His885=) single nucleotide variant not provided [RCV002795118] Chr6:131890388 [GRCh38]
Chr6:132211528 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.1636-9G>A single nucleotide variant ENPP1-related disorder [RCV004545400]|not provided [RCV002843417] Chr6:131875767 [GRCh38]
Chr6:132196907 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.26G>A (p.Gly9Asp) single nucleotide variant not provided [RCV002771194] Chr6:131808061 [GRCh38]
Chr6:132129201 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2113A>C (p.Thr705Pro) single nucleotide variant not provided [RCV002908827] Chr6:131882357 [GRCh38]
Chr6:132203497 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2117A>G (p.Glu706Gly) single nucleotide variant Inborn genetic diseases [RCV002860613] Chr6:131882361 [GRCh38]
Chr6:132203501 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2429dup (p.Leu810fs) duplication not provided [RCV002614449] Chr6:131885046..131885047 [GRCh38]
Chr6:132206186..132206187 [GRCh37]
Chr6:6q23.2
pathogenic
NM_006208.3(ENPP1):c.2078C>T (p.Thr693Ile) single nucleotide variant not provided [RCV002750453] Chr6:131880012 [GRCh38]
Chr6:132201152 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1983A>T (p.Arg661Ser) single nucleotide variant not provided [RCV002861678] Chr6:131879917 [GRCh38]
Chr6:132201057 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.600G>T (p.Glu200Asp) single nucleotide variant not provided [RCV002837640] Chr6:131852218 [GRCh38]
Chr6:132173358 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2292A>G (p.Pro764=) single nucleotide variant not provided [RCV002871225] Chr6:131883755 [GRCh38]
Chr6:132204895 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.1722T>C (p.Cys574=) single nucleotide variant not provided [RCV002889869] Chr6:131875862 [GRCh38]
Chr6:132197002 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2111C>T (p.Ser704Phe) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005045166]|not provided [RCV003022072] Chr6:131882355 [GRCh38]
Chr6:132203495 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.293A>G (p.Lys98Arg) single nucleotide variant Inborn genetic diseases [RCV002708115] Chr6:131847828 [GRCh38]
Chr6:132168968 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1172A>G (p.Lys391Arg) single nucleotide variant Inborn genetic diseases [RCV002888250] Chr6:131868025 [GRCh38]
Chr6:132189165 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.1505C>T (p.Ala502Val) single nucleotide variant Inborn genetic diseases [RCV002757739] Chr6:131872990 [GRCh38]
Chr6:132194130 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1325G>A (p.Gly442Glu) single nucleotide variant Inborn genetic diseases [RCV002694680] Chr6:131869409 [GRCh38]
Chr6:132190549 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1438T>C (p.Cys480Arg) single nucleotide variant not provided [RCV003079071] Chr6:131872923 [GRCh38]
Chr6:132194063 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2414G>T (p.Gly805Val) single nucleotide variant not provided [RCV003079072] Chr6:131885033 [GRCh38]
Chr6:132206173 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.432A>T (p.Glu144Asp) single nucleotide variant not provided [RCV003036412] Chr6:131851143 [GRCh38]
Chr6:132172283 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1274-8del deletion not provided [RCV002590678] Chr6:131869341 [GRCh38]
Chr6:132190481 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.2066T>C (p.Met689Thr) single nucleotide variant not provided [RCV002658608] Chr6:131880000 [GRCh38]
Chr6:132201140 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.719A>G (p.Lys240Arg) single nucleotide variant not provided [RCV003019205] Chr6:131858671 [GRCh38]
Chr6:132179811 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.942C>A (p.Gly314=) single nucleotide variant not provided [RCV002592262] Chr6:131861621 [GRCh38]
Chr6:132182761 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2321G>A (p.Arg774His) single nucleotide variant ENPP1-related disorder [RCV004538804]|Inborn genetic diseases [RCV004978646]|not provided [RCV002619255] Chr6:131884940 [GRCh38]
Chr6:132206080 [GRCh37]
Chr6:6q23.2
likely benign|uncertain significance
NM_006208.3(ENPP1):c.889A>C (p.Asn297His) single nucleotide variant not provided [RCV002923893] Chr6:131860480 [GRCh38]
Chr6:132181620 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.430+3A>G single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005034351]|not provided [RCV002662522] Chr6:131850109 [GRCh38]
Chr6:132171249 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.556+11C>T single nucleotide variant not provided [RCV002795531] Chr6:131851278 [GRCh38]
Chr6:132172418 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.1051T>C (p.Leu351=) single nucleotide variant not provided [RCV002591274] Chr6:131864531 [GRCh38]
Chr6:132185671 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2301G>C (p.Gln767His) single nucleotide variant not provided [RCV002866206] Chr6:131883764 [GRCh38]
Chr6:132204904 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.314-17T>C single nucleotide variant not provided [RCV003020539] Chr6:131849973 [GRCh38]
Chr6:132171113 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2461C>T (p.Arg821Cys) single nucleotide variant Inborn genetic diseases [RCV003162054]|not provided [RCV002637921] Chr6:131886578 [GRCh38]
Chr6:132207718 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.197C>T (p.Ala66Val) single nucleotide variant not provided [RCV002659142] Chr6:131808232 [GRCh38]
Chr6:132129372 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.716-10dup duplication not provided [RCV002999876] Chr6:131858651..131858652 [GRCh38]
Chr6:132179791..132179792 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.2451A>G (p.Arg817=) single nucleotide variant not provided [RCV002621971] Chr6:131886568 [GRCh38]
Chr6:132207708 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.1724-5T>C single nucleotide variant not provided [RCV002780502] Chr6:131876987 [GRCh38]
Chr6:132198127 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2634T>G (p.Val878=) single nucleotide variant not provided [RCV003055030] Chr6:131890367 [GRCh38]
Chr6:132211507 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2712A>G (p.Arg904=) single nucleotide variant not provided [RCV002662459] Chr6:131890445 [GRCh38]
Chr6:132211585 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.282A>G (p.Ile94Met) single nucleotide variant not provided [RCV002590591] Chr6:131847817 [GRCh38]
Chr6:132168957 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1803G>A (p.Thr601=) single nucleotide variant not provided [RCV003005242] Chr6:131877071 [GRCh38]
Chr6:132198211 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.1635A>G (p.Gln545=) single nucleotide variant not provided [RCV003008113] Chr6:131874337 [GRCh38]
Chr6:132195477 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.716-10del deletion not provided [RCV002666952] Chr6:131858652 [GRCh38]
Chr6:132179792 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.313+16T>G single nucleotide variant not provided [RCV002790899] Chr6:131847864 [GRCh38]
Chr6:132169004 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.615A>C (p.Ala205=) single nucleotide variant not provided [RCV002805321] Chr6:131852233 [GRCh38]
Chr6:132173373 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2345G>A (p.Arg782Gln) single nucleotide variant Inborn genetic diseases [RCV004973634]|not provided [RCV002790504] Chr6:131884964 [GRCh38]
Chr6:132206104 [GRCh37]
Chr6:6q23.2
likely benign|uncertain significance
NM_006208.3(ENPP1):c.1700T>C (p.Ile567Thr) single nucleotide variant not provided [RCV002745403] Chr6:131875840 [GRCh38]
Chr6:132196980 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1107T>C (p.Thr369=) single nucleotide variant not provided [RCV002597269] Chr6:131864881 [GRCh38]
Chr6:132186021 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2475T>G (p.Ile825Met) single nucleotide variant Inborn genetic diseases [RCV004973644]|not provided [RCV002800618] Chr6:131886592 [GRCh38]
Chr6:132207732 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.556+18C>G single nucleotide variant not provided [RCV002663353] Chr6:131851285 [GRCh38]
Chr6:132172425 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.1026-9T>G single nucleotide variant not provided [RCV003041800] Chr6:131864497 [GRCh38]
Chr6:132185637 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.165G>T (p.Val55=) single nucleotide variant not provided [RCV002741913] Chr6:131808200 [GRCh38]
Chr6:132129340 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.1902G>A (p.Pro634=) single nucleotide variant not provided [RCV002642818] Chr6:131878550 [GRCh38]
Chr6:132199690 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.491G>A (p.Cys164Tyr) single nucleotide variant not provided [RCV003024585] Chr6:131851202 [GRCh38]
Chr6:132172342 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1026-3T>A single nucleotide variant not provided [RCV002663269] Chr6:131864503 [GRCh38]
Chr6:132185643 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1635+16A>G single nucleotide variant not provided [RCV002594296]|not specified [RCV003388122] Chr6:131874353 [GRCh38]
Chr6:132195493 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.895G>C (p.Glu299Gln) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005034573]|not provided [RCV003005389] Chr6:131860486 [GRCh38]
Chr6:132181626 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2699T>C (p.Phe900Ser) single nucleotide variant not provided [RCV002700874] Chr6:131890432 [GRCh38]
Chr6:132211572 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2444+20C>G single nucleotide variant not provided [RCV003059626] Chr6:131885083 [GRCh38]
Chr6:132206223 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2156C>T (p.Pro719Leu) single nucleotide variant not provided [RCV002663722] Chr6:131882400 [GRCh38]
Chr6:132203540 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1406-6C>T single nucleotide variant not provided [RCV002917419] Chr6:131872064 [GRCh38]
Chr6:132193204 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.716-4C>A single nucleotide variant not provided [RCV002596739] Chr6:131858664 [GRCh38]
Chr6:132179804 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2161A>G (p.Ser721Gly) single nucleotide variant not provided [RCV002626070] Chr6:131882405 [GRCh38]
Chr6:132203545 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2253A>G (p.Gly751=) single nucleotide variant not provided [RCV002828639] Chr6:131883716 [GRCh38]
Chr6:132204856 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.716-6T>C single nucleotide variant Inborn genetic diseases [RCV002873797] Chr6:131858662 [GRCh38]
Chr6:132179802 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1092-9T>A single nucleotide variant not provided [RCV002850905] Chr6:131864857 [GRCh38]
Chr6:132185997 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2185T>C (p.Tyr729His) single nucleotide variant not provided [RCV002700070] Chr6:131882429 [GRCh38]
Chr6:132203569 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.240+8C>T single nucleotide variant not provided [RCV002625771] Chr6:131808283 [GRCh38]
Chr6:132129423 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2211C>T (p.Tyr737=) single nucleotide variant not provided [RCV002626193] Chr6:131882455 [GRCh38]
Chr6:132203595 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.219C>A (p.Asn73Lys) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005036576]|Inborn genetic diseases [RCV002891437]|not provided [RCV005059335] Chr6:131808254 [GRCh38]
Chr6:132129394 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.145T>A (p.Leu49Met) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005045304]|Inborn genetic diseases [RCV004068750]|not provided [RCV002582065] Chr6:131808180 [GRCh38]
Chr6:132129320 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.413A>G (p.Glu138Gly) single nucleotide variant Inborn genetic diseases [RCV005333319]|not provided [RCV002716006] Chr6:131850089 [GRCh38]
Chr6:132171229 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1465C>T (p.Pro489Ser) single nucleotide variant not provided [RCV002770542] Chr6:131872950 [GRCh38]
Chr6:132194090 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2663G>A (p.Arg888Gln) single nucleotide variant not provided [RCV002676330] Chr6:131890396 [GRCh38]
Chr6:132211536 [GRCh37]
Chr6:6q23.2
likely pathogenic|uncertain significance
NM_006208.3(ENPP1):c.1438-3C>G single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005034448]|not provided [RCV002877407] Chr6:131872920 [GRCh38]
Chr6:132194060 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1290T>C (p.Ser430=) single nucleotide variant not provided [RCV002811204] Chr6:131869374 [GRCh38]
Chr6:132190514 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2466C>G (p.Asn822Lys) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005036546]|Inborn genetic diseases [RCV002747573] Chr6:131886583 [GRCh38]
Chr6:132207723 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2101-9G>A single nucleotide variant not provided [RCV003063297]|not specified [RCV004690357] Chr6:131882336 [GRCh38]
Chr6:132203476 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.1538A>G (p.Tyr513Cys) single nucleotide variant not provided [RCV003060083] Chr6:131873023 [GRCh38]
Chr6:132194163 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1792C>G (p.Pro598Ala) single nucleotide variant not provided [RCV003086406] Chr6:131877060 [GRCh38]
Chr6:132198200 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1266A>T (p.Ser422=) single nucleotide variant not provided [RCV002578884] Chr6:131868119 [GRCh38]
Chr6:132189259 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.55G>A (p.Ala19Thr) single nucleotide variant not provided [RCV002746670] Chr6:131808090 [GRCh38]
Chr6:132129230 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.502G>C (p.Asp168His) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005034538]|not provided [RCV002963235] Chr6:131851213 [GRCh38]
Chr6:132172353 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2531C>T (p.Thr844Met) single nucleotide variant not provided [RCV002922171]|not specified [RCV004782972] Chr6:131886648 [GRCh38]
Chr6:132207788 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1438-3C>T single nucleotide variant not provided [RCV003088772] Chr6:131872920 [GRCh38]
Chr6:132194060 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.556+12G>A single nucleotide variant not provided [RCV002630178] Chr6:131851279 [GRCh38]
Chr6:132172419 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2471A>G (p.Glu824Gly) single nucleotide variant Inborn genetic diseases [RCV002719139]|not provided [RCV003777704] Chr6:131886588 [GRCh38]
Chr6:132207728 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1412A>G (p.Tyr471Cys) single nucleotide variant not provided [RCV003060082] Chr6:131872076 [GRCh38]
Chr6:132193216 [GRCh37]
Chr6:6q23.2
pathogenic
NM_006208.3(ENPP1):c.1846T>C (p.Phe616Leu) single nucleotide variant not provided [RCV002746277] Chr6:131877114 [GRCh38]
Chr6:132198254 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2713_2717del (p.Lys905fs) microsatellite not provided [RCV003060084] Chr6:131890441..131890445 [GRCh38]
Chr6:132211581..132211585 [GRCh37]
Chr6:6q23.2
pathogenic
NM_006208.3(ENPP1):c.523G>A (p.Asp175Asn) single nucleotide variant ENPP1-related disorder [RCV004538872]|Inborn genetic diseases [RCV002940248]|not provided [RCV003108196] Chr6:131851234 [GRCh38]
Chr6:132172374 [GRCh37]
Chr6:6q23.2
benign|uncertain significance
NM_006208.3(ENPP1):c.1503T>C (p.Phe501=) single nucleotide variant not provided [RCV003047877] Chr6:131872988 [GRCh38]
Chr6:132194128 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2212G>A (p.Gly738Arg) single nucleotide variant not provided [RCV002649277] Chr6:131882456 [GRCh38]
Chr6:132203596 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1427G>A (p.Arg476Gln) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005034708]|Inborn genetic diseases [RCV002598807]|not provided [RCV002584954] Chr6:131872091 [GRCh38]
Chr6:132193231 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.934T>C (p.Tyr312His) single nucleotide variant not provided [RCV002631866] Chr6:131861613 [GRCh38]
Chr6:132182753 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1857C>T (p.Asn619=) single nucleotide variant not provided [RCV002857158] Chr6:131877125 [GRCh38]
Chr6:132198265 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2760C>T (p.Thr920=) single nucleotide variant not provided [RCV002856856] Chr6:131890493 [GRCh38]
Chr6:132211633 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2676T>G (p.Val892=) single nucleotide variant not provided [RCV002811148] Chr6:131890409 [GRCh38]
Chr6:132211549 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2591A>T (p.Asn864Ile) single nucleotide variant not provided [RCV003045266] Chr6:131886708 [GRCh38]
Chr6:132207848 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2311+6T>A single nucleotide variant Inborn genetic diseases [RCV002831381] Chr6:131883780 [GRCh38]
Chr6:132204920 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.314-16C>T single nucleotide variant not provided [RCV002580558] Chr6:131849974 [GRCh38]
Chr6:132171114 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2496T>C (p.Phe832=) single nucleotide variant not provided [RCV003087123] Chr6:131886613 [GRCh38]
Chr6:132207753 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.1367G>T (p.Arg456Leu) single nucleotide variant not provided [RCV002900197] Chr6:131869451 [GRCh38]
Chr6:132190591 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2286A>T (p.Ile762=) single nucleotide variant not provided [RCV003087472] Chr6:131883749 [GRCh38]
Chr6:132204889 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.314-4dup duplication not provided [RCV002770825] Chr6:131849980..131849981 [GRCh38]
Chr6:132171120..132171121 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.715+1G>C single nucleotide variant not provided [RCV003060523] Chr6:131855024 [GRCh38]
Chr6:132176164 [GRCh37]
Chr6:6q23.2
pathogenic|likely pathogenic
NM_006208.3(ENPP1):c.2231-17C>T single nucleotide variant not provided [RCV002576996] Chr6:131883677 [GRCh38]
Chr6:132204817 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2100+8T>A single nucleotide variant not provided [RCV003050020] Chr6:131880042 [GRCh38]
Chr6:132201182 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1405T>C (p.Phe469Leu) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005045258]|not provided [RCV003069815] Chr6:131869489 [GRCh38]
Chr6:132190629 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2024C>G (p.Ser675Cys) single nucleotide variant not provided [RCV003069820] Chr6:131879958 [GRCh38]
Chr6:132201098 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1423G>A (p.Ala475Thr) single nucleotide variant not provided [RCV002814692] Chr6:131872087 [GRCh38]
Chr6:132193227 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1893+10G>A single nucleotide variant not provided [RCV002658403] Chr6:131877171 [GRCh38]
Chr6:132198311 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.1444G>C (p.Glu482Gln) single nucleotide variant not provided [RCV003069100] Chr6:131872929 [GRCh38]
Chr6:132194069 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2191A>C (p.Asn731His) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005045390]|Inborn genetic diseases [RCV002722273]|not provided [RCV003561078] Chr6:131882435 [GRCh38]
Chr6:132203575 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.430+13A>C single nucleotide variant not provided [RCV002587776] Chr6:131850119 [GRCh38]
Chr6:132171259 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.87C>G (p.Arg29=) single nucleotide variant not provided [RCV002603943] Chr6:131808122 [GRCh38]
Chr6:132129262 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.1893+9C>T single nucleotide variant not provided [RCV002585348] Chr6:131877170 [GRCh38]
Chr6:132198310 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.1A>G (p.Met1Val) single nucleotide variant Inborn genetic diseases [RCV002590244]|not provided [RCV002590243] Chr6:131808036 [GRCh38]
Chr6:132129176 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.229G>A (p.Val77Ile) single nucleotide variant not provided [RCV002658131] Chr6:131808264 [GRCh38]
Chr6:132129404 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.556+17G>T single nucleotide variant not provided [RCV002608984] Chr6:131851284 [GRCh38]
Chr6:132172424 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.1894-19G>C single nucleotide variant not provided [RCV002634892] Chr6:131878523 [GRCh38]
Chr6:132199663 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.136G>T (p.Ala46Ser) single nucleotide variant not provided [RCV002606598] Chr6:131808171 [GRCh38]
Chr6:132129311 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.732T>C (p.Tyr244=) single nucleotide variant not provided [RCV002721443] Chr6:131858684 [GRCh38]
Chr6:132179824 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.713T>C (p.Leu238Pro) single nucleotide variant not provided [RCV003147053] Chr6:131855021 [GRCh38]
Chr6:132176161 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2416C>T (p.Arg806Cys) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005036678]|not provided [RCV003147054] Chr6:131885035 [GRCh38]
Chr6:132206175 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1092-42A>G single nucleotide variant not provided [RCV003147052] Chr6:131864824 [GRCh38]
Chr6:132185964 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2746del (p.Thr916fs) deletion Arterial calcification, generalized, of infancy, 1 [RCV003320394] Chr6:131890476 [GRCh38]
Chr6:132211616 [GRCh37]
Chr6:6q23.2
likely pathogenic
NM_006208.3(ENPP1):c.583T>C (p.Cys195Arg) single nucleotide variant ENPP1-related disorder [RCV004540644]|not provided [RCV003329825] Chr6:131852201 [GRCh38]
Chr6:132173341 [GRCh37]
Chr6:6q23.2
likely pathogenic|conflicting interpretations of pathogenicity
NM_006208.3(ENPP1):c.1827C>G (p.His609Gln) single nucleotide variant Inborn genetic diseases [RCV003341461]|not provided [RCV003777525] Chr6:131877095 [GRCh38]
Chr6:132198235 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.203C>A (p.Thr68Asn) single nucleotide variant Inborn genetic diseases [RCV003376957]|not provided [RCV005104165] Chr6:131808238 [GRCh38]
Chr6:132129378 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.439T>C (p.Trp147Arg) single nucleotide variant Inborn genetic diseases [RCV003378017] Chr6:131851150 [GRCh38]
Chr6:132172290 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1931T>G (p.Leu644Arg) single nucleotide variant Inborn genetic diseases [RCV003371188] Chr6:131878579 [GRCh38]
Chr6:132199719 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1332del (p.Asn446fs) deletion not provided [RCV003569606] Chr6:131869415 [GRCh38]
Chr6:132190555 [GRCh37]
Chr6:6q23.2
pathogenic
NM_006208.3(ENPP1):c.61C>T (p.Arg21Trp) single nucleotide variant Inborn genetic diseases [RCV004981119]|not provided [RCV003873644] Chr6:131808096 [GRCh38]
Chr6:132129236 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.58C>T (p.Pro20Ser) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005036955]|not provided [RCV003712555] Chr6:131808093 [GRCh38]
Chr6:132129233 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.617+19G>A single nucleotide variant not provided [RCV003872770] Chr6:131852254 [GRCh38]
Chr6:132173394 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2091G>A (p.Val697=) single nucleotide variant not provided [RCV003569142] Chr6:131880025 [GRCh38]
Chr6:132201165 [GRCh37]
Chr6:6q23.2
uncertain significance
GRCh37/hg19 6q23.2(chr6:131624205-132219490)x3 copy number gain not provided [RCV003484651] Chr6:131624205..132219490 [GRCh37]
Chr6:6q23.2
uncertain significance
GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1 copy number loss not provided [RCV003482930] Chr6:120218852..137160850 [GRCh37]
Chr6:6q22.31-23.3
pathogenic
NM_006208.3(ENPP1):c.1724-1G>T single nucleotide variant Hypophosphatemic rickets, autosomal recessive, 2 [RCV004545899] Chr6:131876991 [GRCh38]
Chr6:132198131 [GRCh37]
Chr6:6q23.2
likely pathogenic|benign
NM_006208.3(ENPP1):c.195_197delinsAA (p.Ala66fs) indel Hypophosphatemic rickets, autosomal recessive, 2 [RCV004545898] Chr6:131808230..131808232 [GRCh38]
Chr6:132129370..132129372 [GRCh37]
Chr6:6q23.2
likely pathogenic|benign
NM_006208.3(ENPP1):c.2230+5G>A single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV003482924] Chr6:131882479 [GRCh38]
Chr6:132203619 [GRCh37]
Chr6:6q23.2
pathogenic
NM_006208.3(ENPP1):c.2230+18C>G single nucleotide variant not specified [RCV003405103] Chr6:131882492 [GRCh38]
Chr6:132203632 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.556+2T>G single nucleotide variant ENPP1-related disorder [RCV004534333] Chr6:131851269 [GRCh38]
Chr6:132172409 [GRCh37]
Chr6:6q23.2
likely pathogenic
NM_006208.3(ENPP1):c.88G>T (p.Asp30Tyr) single nucleotide variant ENPP1-related disorder [RCV004534316]|not provided [RCV003679206] Chr6:131808123 [GRCh38]
Chr6:132129263 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1855A>G (p.Asn619Asp) single nucleotide variant not provided [RCV003739042] Chr6:131877123 [GRCh38]
Chr6:132198263 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.612A>G (p.Pro204=) single nucleotide variant not provided [RCV003576964] Chr6:131852230 [GRCh38]
Chr6:132173370 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.1506T>C (p.Ala502=) single nucleotide variant not provided [RCV003849173] Chr6:131872991 [GRCh38]
Chr6:132194131 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2556C>T (p.Asp852=) single nucleotide variant not provided [RCV003739957] Chr6:131886673 [GRCh38]
Chr6:132207813 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.331C>T (p.Arg111Cys) single nucleotide variant not provided [RCV003831479] Chr6:131850007 [GRCh38]
Chr6:132171147 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.193C>G (p.Arg65Gly) single nucleotide variant not provided [RCV003877250] Chr6:131808228 [GRCh38]
Chr6:132129368 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2330A>C (p.His777Pro) single nucleotide variant not provided [RCV003545369] Chr6:131884949 [GRCh38]
Chr6:132206089 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.617+10T>C single nucleotide variant not provided [RCV003694833] Chr6:131852245 [GRCh38]
Chr6:132173385 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2373C>G (p.Val791=) single nucleotide variant not provided [RCV003688455] Chr6:131884992 [GRCh38]
Chr6:132206132 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2312-12A>G single nucleotide variant not provided [RCV003712798] Chr6:131884919 [GRCh38]
Chr6:132206059 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.1159A>C (p.Ser387Arg) single nucleotide variant Inborn genetic diseases [RCV004621836]|not provided [RCV003576231] Chr6:131864933 [GRCh38]
Chr6:132186073 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1870C>T (p.Leu624Phe) single nucleotide variant not provided [RCV003692956] Chr6:131877138 [GRCh38]
Chr6:132198278 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.531C>T (p.Cys177=) single nucleotide variant not provided [RCV003827409] Chr6:131851242 [GRCh38]
Chr6:132172382 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2252del (p.Gly751fs) deletion not provided [RCV003694616] Chr6:131883714 [GRCh38]
Chr6:132204854 [GRCh37]
Chr6:6q23.2
pathogenic
NM_006208.3(ENPP1):c.378T>A (p.Cys126Ter) single nucleotide variant not provided [RCV003489361] Chr6:131850054 [GRCh38]
Chr6:132171194 [GRCh37]
Chr6:6q23.2
likely pathogenic
NM_006208.3(ENPP1):c.501A>T (p.Ser167=) single nucleotide variant not provided [RCV003689185] Chr6:131851212 [GRCh38]
Chr6:132172352 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.250G>A (p.Val84Ile) single nucleotide variant not provided [RCV003574285] Chr6:131847785 [GRCh38]
Chr6:132168925 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1882T>A (p.Cys628Ser) single nucleotide variant not provided [RCV003547436] Chr6:131877150 [GRCh38]
Chr6:132198290 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2445-5T>A single nucleotide variant not provided [RCV003688655] Chr6:131886557 [GRCh38]
Chr6:132207697 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.516_517delinsGC (p.Asp172_Lys173delinsGluGln) indel not provided [RCV003686705] Chr6:131851227..131851228 [GRCh38]
Chr6:132172367..132172368 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1144T>A (p.Tyr382Asn) single nucleotide variant not provided [RCV003690205] Chr6:131864918 [GRCh38]
Chr6:132186058 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1804C>T (p.Pro602Ser) single nucleotide variant not provided [RCV003717708] Chr6:131877072 [GRCh38]
Chr6:132198212 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.428C>G (p.Pro143Arg) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005038552]|not provided [RCV003835342] Chr6:131850104 [GRCh38]
Chr6:132171244 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1321T>C (p.Leu441=) single nucleotide variant not provided [RCV003811180] Chr6:131869405 [GRCh38]
Chr6:132190545 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2100+15C>T single nucleotide variant not provided [RCV003811321] Chr6:131880049 [GRCh38]
Chr6:132201189 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.1565T>G (p.Leu522Trp) single nucleotide variant not provided [RCV003549143] Chr6:131873050 [GRCh38]
Chr6:132194190 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1164+7A>C single nucleotide variant not provided [RCV003832219] Chr6:131864945 [GRCh38]
Chr6:132186085 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1406-8C>T single nucleotide variant not provided [RCV003699158] Chr6:131872062 [GRCh38]
Chr6:132193202 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2405A>G (p.Asp802Gly) single nucleotide variant not provided [RCV003699795] Chr6:131885024 [GRCh38]
Chr6:132206164 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.958T>C (p.Phe320Leu) single nucleotide variant not provided [RCV003833091] Chr6:131861637 [GRCh38]
Chr6:132182777 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2029C>A (p.His677Asn) single nucleotide variant not provided [RCV003835349] Chr6:131879963 [GRCh38]
Chr6:132201103 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1581G>C (p.Arg527Ser) single nucleotide variant not provided [RCV003703216] Chr6:131874283 [GRCh38]
Chr6:132195423 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.459G>A (p.Arg153=) single nucleotide variant not provided [RCV003816674] Chr6:131851170 [GRCh38]
Chr6:132172310 [GRCh37]
Chr6:6q23.2
likely benign|uncertain significance
NM_006208.3(ENPP1):c.2532G>A (p.Thr844=) single nucleotide variant not provided [RCV003559012]|not specified [RCV004783073] Chr6:131886649 [GRCh38]
Chr6:132207789 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.1743G>A (p.Pro581=) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005036972]|not provided [RCV003724840] Chr6:131877011 [GRCh38]
Chr6:132198151 [GRCh37]
Chr6:6q23.2
likely benign|uncertain significance
NM_006208.3(ENPP1):c.1407T>C (p.Phe469=) single nucleotide variant not provided [RCV003703448] Chr6:131872071 [GRCh38]
Chr6:132193211 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.200G>A (p.Arg67His) single nucleotide variant not provided [RCV003702465] Chr6:131808235 [GRCh38]
Chr6:132129375 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.494C>T (p.Ala165Val) single nucleotide variant not provided [RCV003667552] Chr6:131851205 [GRCh38]
Chr6:132172345 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.766A>G (p.Thr256Ala) single nucleotide variant not provided [RCV003673422] Chr6:131858718 [GRCh38]
Chr6:132179858 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2187T>C (p.Tyr729=) single nucleotide variant not provided [RCV003851911] Chr6:131882431 [GRCh38]
Chr6:132203571 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.1563A>C (p.Ala521=) single nucleotide variant not provided [RCV003837686] Chr6:131873048 [GRCh38]
Chr6:132194188 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.430+20A>G single nucleotide variant not provided [RCV003702715] Chr6:131850126 [GRCh38]
Chr6:132171266 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.125A>C (p.Asp42Ala) single nucleotide variant not provided [RCV003549733] Chr6:131808160 [GRCh38]
Chr6:132129300 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2031C>G (p.His677Gln) single nucleotide variant not provided [RCV003559026] Chr6:131879965 [GRCh38]
Chr6:132201105 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.430+5G>C single nucleotide variant not provided [RCV003668739] Chr6:131850111 [GRCh38]
Chr6:132171251 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1560T>A (p.Leu520=) single nucleotide variant not provided [RCV003837685] Chr6:131873045 [GRCh38]
Chr6:132194185 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.855T>A (p.Asn285Lys) single nucleotide variant not provided [RCV003816536] Chr6:131860446 [GRCh38]
Chr6:132181586 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2631G>A (p.Trp877Ter) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005038577]|not provided [RCV003850053] Chr6:131890364 [GRCh38]
Chr6:132211504 [GRCh37]
Chr6:6q23.2
pathogenic|likely pathogenic
NM_006208.3(ENPP1):c.240+20C>T single nucleotide variant not provided [RCV003672178] Chr6:131808295 [GRCh38]
Chr6:132129435 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.1030G>T (p.Val344Leu) single nucleotide variant not provided [RCV003667771] Chr6:131864510 [GRCh38]
Chr6:132185650 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2607+16A>G single nucleotide variant not provided [RCV003854560] Chr6:131886740 [GRCh38]
Chr6:132207880 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2010C>T (p.Thr670=) single nucleotide variant not provided [RCV003852426] Chr6:131879944 [GRCh38]
Chr6:132201084 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2662C>T (p.Arg888Trp) single nucleotide variant not provided [RCV003559337] Chr6:131890395 [GRCh38]
Chr6:132211535 [GRCh37]
Chr6:6q23.2
pathogenic
NM_006208.3(ENPP1):c.2068C>G (p.Pro690Ala) single nucleotide variant not provided [RCV003854631] Chr6:131880002 [GRCh38]
Chr6:132201142 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.448A>C (p.Asn150His) single nucleotide variant not provided [RCV003666467] Chr6:131851159 [GRCh38]
Chr6:132172299 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.314-11A>G single nucleotide variant not provided [RCV003814850] Chr6:131849979 [GRCh38]
Chr6:132171119 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.265A>G (p.Thr89Ala) single nucleotide variant not provided [RCV003699602] Chr6:131847800 [GRCh38]
Chr6:132168940 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1867A>T (p.Asn623Tyr) single nucleotide variant not provided [RCV003863922] Chr6:131877135 [GRCh38]
Chr6:132198275 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2500G>A (p.Val834Met) single nucleotide variant not provided [RCV003860908] Chr6:131886617 [GRCh38]
Chr6:132207757 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.430+19A>G single nucleotide variant not provided [RCV003840991] Chr6:131850125 [GRCh38]
Chr6:132171265 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2312-5_2313del deletion not provided [RCV003707117] Chr6:131884925..131884931 [GRCh38]
Chr6:132206065..132206071 [GRCh37]
Chr6:6q23.2
likely pathogenic
NM_006208.3(ENPP1):c.328G>A (p.Gly110Ser) single nucleotide variant not provided [RCV003553223] Chr6:131850004 [GRCh38]
Chr6:132171144 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2192A>G (p.Asn731Ser) single nucleotide variant not provided [RCV003728929] Chr6:131882436 [GRCh38]
Chr6:132203576 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.988A>G (p.Asn330Asp) single nucleotide variant not provided [RCV003706268] Chr6:131861667 [GRCh38]
Chr6:132182807 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.776A>G (p.Asn259Ser) single nucleotide variant not provided [RCV003844580] Chr6:131858728 [GRCh38]
Chr6:132179868 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.436A>C (p.Ile146Leu) single nucleotide variant not provided [RCV003551607] Chr6:131851147 [GRCh38]
Chr6:132172287 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1719G>A (p.Met573Ile) single nucleotide variant not provided [RCV003681697] Chr6:131875859 [GRCh38]
Chr6:132196999 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.454T>G (p.Phe152Val) single nucleotide variant not provided [RCV003820659] Chr6:131851165 [GRCh38]
Chr6:132172305 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.826G>A (p.Asp276Asn) single nucleotide variant not provided [RCV003555309] Chr6:131860417 [GRCh38]
Chr6:132181557 [GRCh37]
Chr6:6q23.2
uncertain significance
GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3 copy number gain not specified [RCV003986663] Chr6:131569837..145572239 [GRCh37]
Chr6:6q23.2-24.2
pathogenic
NM_006208.3(ENPP1):c.2633T>G (p.Val878Gly) single nucleotide variant not provided [RCV003685826] Chr6:131890366 [GRCh38]
Chr6:132211506 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1973C>T (p.Pro658Leu) single nucleotide variant not provided [RCV003868311] Chr6:131879907 [GRCh38]
Chr6:132201047 [GRCh37]
Chr6:6q23.2
uncertain significance
GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3 copy number gain not specified [RCV003986631] Chr6:119840686..156623091 [GRCh37]
Chr6:6q22.31-25.3
pathogenic
NM_006208.3(ENPP1):c.2756C>T (p.Pro919Leu) single nucleotide variant not provided [RCV003564338] Chr6:131890489 [GRCh38]
Chr6:132211629 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.117G>T (p.Ala39=) single nucleotide variant not provided [RCV003729114] Chr6:131808152 [GRCh38]
Chr6:132129292 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2311+5A>C single nucleotide variant not provided [RCV003685077] Chr6:131883779 [GRCh38]
Chr6:132204919 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.134C>A (p.Ala45Glu) single nucleotide variant Inborn genetic diseases [RCV004374263]|not provided [RCV003732392] Chr6:131808169 [GRCh38]
Chr6:132129309 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1062T>C (p.Leu354=) single nucleotide variant not provided [RCV003542146] Chr6:131864542 [GRCh38]
Chr6:132185682 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.1442G>A (p.Arg481Gln) single nucleotide variant not provided [RCV003555310] Chr6:131872927 [GRCh38]
Chr6:132194067 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1755C>T (p.Asn585=) single nucleotide variant not provided [RCV003869534] Chr6:131877023 [GRCh38]
Chr6:132198163 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.1300T>C (p.Tyr434His) single nucleotide variant not provided [RCV003822686] Chr6:131869384 [GRCh38]
Chr6:132190524 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.98G>A (p.Arg33His) single nucleotide variant not provided [RCV003566914] Chr6:131808133 [GRCh38]
Chr6:132129273 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1039G>A (p.Glu347Lys) single nucleotide variant not provided [RCV003862011] Chr6:131864519 [GRCh38]
Chr6:132185659 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1892C>T (p.Ser631Leu) single nucleotide variant not provided [RCV003728834] Chr6:131877160 [GRCh38]
Chr6:132198300 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.34C>G (p.Arg12Gly) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005038568]|not provided [RCV003847916] Chr6:131808069 [GRCh38]
Chr6:132129209 [GRCh37]
Chr6:6q23.2
likely benign|uncertain significance
NM_006208.3(ENPP1):c.149T>C (p.Leu50Pro) single nucleotide variant not provided [RCV003556750] Chr6:131808184 [GRCh38]
Chr6:132129324 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.430+17A>G single nucleotide variant not provided [RCV003820197] Chr6:131850123 [GRCh38]
Chr6:132171263 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.105C>T (p.His35=) single nucleotide variant not provided [RCV003733448] Chr6:131808140 [GRCh38]
Chr6:132129280 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.897G>A (p.Glu299=) single nucleotide variant not provided [RCV003728141] Chr6:131860488 [GRCh38]
Chr6:132181628 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.6G>A (p.Glu2=) single nucleotide variant not provided [RCV003567472] Chr6:131808041 [GRCh38]
Chr6:132129181 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.664G>A (p.Ala222Thr) single nucleotide variant not provided [RCV003681327] Chr6:131854972 [GRCh38]
Chr6:132176112 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.546T>C (p.Ser182=) single nucleotide variant not provided [RCV003842074] Chr6:131851257 [GRCh38]
Chr6:132172397 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.416C>T (p.Thr139Met) single nucleotide variant not provided [RCV003824034] Chr6:131850092 [GRCh38]
Chr6:132171232 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1997A>G (p.Gln666Arg) single nucleotide variant not provided [RCV003677186] Chr6:131879931 [GRCh38]
Chr6:132201071 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.249A>G (p.Ser83=) single nucleotide variant not provided [RCV003709652] Chr6:131847784 [GRCh38]
Chr6:132168924 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2371G>A (p.Val791Ile) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005038589]|not provided [RCV003859844] Chr6:131884990 [GRCh38]
Chr6:132206130 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2236A>T (p.Asn746Tyr) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005038538]|not provided [RCV003823015] Chr6:131883699 [GRCh38]
Chr6:132204839 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1945+19T>C single nucleotide variant not provided [RCV003677524] Chr6:131878612 [GRCh38]
Chr6:132199752 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2625C>T (p.Ser875=) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005038529]|not provided [RCV003818721] Chr6:131890358 [GRCh38]
Chr6:132211498 [GRCh37]
Chr6:6q23.2
likely benign|uncertain significance
NM_006208.3(ENPP1):c.2478G>C (p.Leu826Phe) single nucleotide variant not provided [RCV003550930] Chr6:131886595 [GRCh38]
Chr6:132207735 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV003732291] Chr6:131808037 [GRCh38]
Chr6:132129177 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1742C>T (p.Pro581Leu) single nucleotide variant Hypophosphatemic rickets [RCV004801443]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV004555385] Chr6:131877010 [GRCh38]
Chr6:132198150 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*6T>C single nucleotide variant ENPP1-related disorder [RCV004542537] Chr6:131890517 [GRCh38]
Chr6:132211657 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.301T>C (p.Cys101Arg) single nucleotide variant not provided [RCV003887638] Chr6:131847836 [GRCh38]
Chr6:132168976 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1701del (p.Ile567fs) deletion ENPP1-related disorder [RCV004542628] Chr6:131875840 [GRCh38]
Chr6:132196980 [GRCh37]
Chr6:6q23.2
likely pathogenic
NM_006208.3(ENPP1):c.2230+1G>A single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV003989094] Chr6:131882475 [GRCh38]
Chr6:132203615 [GRCh37]
Chr6:6q23.2
pathogenic
NM_006208.3(ENPP1):c.1066T>A (p.Trp356Arg) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV003990491] Chr6:131864546 [GRCh38]
Chr6:132185686 [GRCh37]
Chr6:6q23.2
likely pathogenic
NM_006208.3(ENPP1):c.1825C>T (p.His609Tyr) single nucleotide variant Inborn genetic diseases [RCV004382861] Chr6:131877093 [GRCh38]
Chr6:132198233 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.13G>C (p.Gly5Arg) single nucleotide variant Inborn genetic diseases [RCV004382856] Chr6:131808048 [GRCh38]
Chr6:132129188 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1477C>T (p.His493Tyr) single nucleotide variant Inborn genetic diseases [RCV004382858] Chr6:131872962 [GRCh38]
Chr6:132194102 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1655G>A (p.Gly552Glu) single nucleotide variant Inborn genetic diseases [RCV004382860] Chr6:131875795 [GRCh38]
Chr6:132196935 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.46G>A (p.Gly16Ser) single nucleotide variant Inborn genetic diseases [RCV004382863] Chr6:131808081 [GRCh38]
Chr6:132129221 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1510A>C (p.Ser504Arg) single nucleotide variant Inborn genetic diseases [RCV004382859] Chr6:131872995 [GRCh38]
Chr6:132194135 [GRCh37]
Chr6:6q23.2
uncertain significance
GRCh37/hg19 6q22.33-23.2(chr6:129969121-132499298)x1 copy number loss not provided [RCV004577479] Chr6:129969121..132499298 [GRCh37]
Chr6:6q22.33-23.2
uncertain significance
NM_006208.3(ENPP1):c.2754G>T (p.Leu918Phe) single nucleotide variant Inborn genetic diseases [RCV004625072] Chr6:131890487 [GRCh38]
Chr6:132211627 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.260T>C (p.Leu87Ser) single nucleotide variant Inborn genetic diseases [RCV004625073] Chr6:131847795 [GRCh38]
Chr6:132168935 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.280A>G (p.Ile94Val) single nucleotide variant Inborn genetic diseases [RCV004625074] Chr6:131847815 [GRCh38]
Chr6:132168955 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1962T>A (p.His654Gln) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005038745]|Inborn genetic diseases [RCV004625070] Chr6:131879896 [GRCh38]
Chr6:132201036 [GRCh37]
Chr6:6q23.2
likely benign|uncertain significance
NM_006208.3(ENPP1):c.2627C>T (p.Ser876Leu) single nucleotide variant Inborn genetic diseases [RCV004625071]|not provided [RCV005102177] Chr6:131890360 [GRCh38]
Chr6:132211500 [GRCh37]
Chr6:6q23.2
likely benign|uncertain significance
NC_000006.11:g.(?_131894423)_(133849943_?)del deletion not provided [RCV004578838] Chr6:131894423..133849943 [GRCh37]
Chr6:6q23.2
pathogenic
NC_000006.11:g.(?_132129176)_(132211651_?)dup duplication not provided [RCV004578839] Chr6:132129176..132211651 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1334A>C (p.Lys445Thr) single nucleotide variant not provided [RCV004727260] Chr6:131869418 [GRCh38]
Chr6:132190558 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2427C>T (p.Ser809=) single nucleotide variant ENPP1-related disorder [RCV004736101]|not provided [RCV005059894] Chr6:131885046 [GRCh38]
Chr6:132206186 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.602C>G (p.Pro201Arg) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005045554] Chr6:131852220 [GRCh38]
Chr6:132173360 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1025+14A>T single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005045555] Chr6:131861718 [GRCh38]
Chr6:132182858 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1418G>A (p.Gly473Asp) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005045557]|Inborn genetic diseases [RCV005325956] Chr6:131872082 [GRCh38]
Chr6:132193222 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2638G>A (p.Glu880Lys) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005045564] Chr6:131890371 [GRCh38]
Chr6:132211511 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1952T>C (p.Ile651Thr) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005045562] Chr6:131879886 [GRCh38]
Chr6:132201026 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2478G>T (p.Leu826Phe) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005045563] Chr6:131886595 [GRCh38]
Chr6:132207735 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.102C>G (p.Ser34Arg) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005040845]|Inborn genetic diseases [RCV004979808] Chr6:131808137 [GRCh38]
Chr6:132129277 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2417G>A (p.Arg806His) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005040844]|Inborn genetic diseases [RCV004979806] Chr6:131885036 [GRCh38]
Chr6:132206176 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.464G>A (p.Gly155Asp) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005045552] Chr6:131851175 [GRCh38]
Chr6:132172315 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.597T>A (p.Asn199Lys) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005045553] Chr6:131852215 [GRCh38]
Chr6:132173355 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1566-15A>G single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005045559]|not provided [RCV005063314] Chr6:131874253 [GRCh38]
Chr6:132195393 [GRCh37]
Chr6:6q23.2
likely benign|uncertain significance
NM_006208.3(ENPP1):c.1777C>G (p.His593Asp) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005045560] Chr6:131877045 [GRCh38]
Chr6:132198185 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.167G>A (p.Gly56Glu) single nucleotide variant Inborn genetic diseases [RCV004979807] Chr6:131808202 [GRCh38]
Chr6:132129342 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.169G>C (p.Glu57Gln) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005045550]|not provided [RCV005105260] Chr6:131808204 [GRCh38]
Chr6:132129344 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.191C>T (p.Ala64Val) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005045551] Chr6:131808226 [GRCh38]
Chr6:132129366 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1120G>A (p.Glu374Lys) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005045556] Chr6:131864894 [GRCh38]
Chr6:132186034 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1811A>G (p.His604Arg) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005045561] Chr6:131877079 [GRCh38]
Chr6:132198219 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1991T>C (p.Val664Ala) single nucleotide variant not provided [RCV004823576] Chr6:131879925 [GRCh38]
Chr6:132201065 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1660G>A (p.Gly554Arg) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005038895]|Inborn genetic diseases [RCV004979805] Chr6:131875800 [GRCh38]
Chr6:132196940 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1678G>C (p.Glu560Gln) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005038896]|Inborn genetic diseases [RCV004979809] Chr6:131875818 [GRCh38]
Chr6:132196958 [GRCh37]
Chr6:6q23.2
uncertain significance
GRCh37/hg19 6q23.2(chr6:131624205-132219490)x1 copy number loss not provided [RCV004819799] Chr6:131624205..132219490 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.501A>G (p.Ser167=) single nucleotide variant not provided [RCV005067053] Chr6:131851212 [GRCh38]
Chr6:132172352 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.240+10C>G single nucleotide variant not provided [RCV005136336] Chr6:131808285 [GRCh38]
Chr6:132129425 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.1492C>T (p.Arg498Cys) single nucleotide variant not provided [RCV005067680] Chr6:131872977 [GRCh38]
Chr6:132194117 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.529T>C (p.Cys177Arg) single nucleotide variant not provided [RCV005126798] Chr6:131851240 [GRCh38]
Chr6:132172380 [GRCh37]
Chr6:6q23.2
pathogenic
NM_006208.3(ENPP1):c.2445-20A>G single nucleotide variant not provided [RCV005060250] Chr6:131886542 [GRCh38]
Chr6:132207682 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.644T>A (p.Phe215Tyr) single nucleotide variant not provided [RCV005129237] Chr6:131854952 [GRCh38]
Chr6:132176092 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.313+1G>A single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005037863] Chr6:131847849 [GRCh38]
Chr6:132168989 [GRCh37]
Chr6:6q23.2
likely pathogenic
NM_006208.3(ENPP1):c.314-10A>G single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005037864] Chr6:131849980 [GRCh38]
Chr6:132171120 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.340G>A (p.Glu114Lys) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005037865] Chr6:131850016 [GRCh38]
Chr6:132171156 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.362G>T (p.Arg121Leu) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005037866] Chr6:131850038 [GRCh38]
Chr6:132171178 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.590G>A (p.Ser197Asn) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005037868] Chr6:131852208 [GRCh38]
Chr6:132173348 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.659T>A (p.Phe220Tyr) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005037869] Chr6:131854967 [GRCh38]
Chr6:132176107 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1780C>T (p.Leu594Phe) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005037882] Chr6:131877048 [GRCh38]
Chr6:132198188 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1880C>T (p.Ser627Leu) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005037883] Chr6:131877148 [GRCh38]
Chr6:132198288 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2008A>G (p.Thr670Ala) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005037884] Chr6:131879942 [GRCh38]
Chr6:132201082 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2052C>G (p.Ser684Arg) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005037885] Chr6:131879986 [GRCh38]
Chr6:132201126 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2554G>C (p.Asp852His) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005037900] Chr6:131886671 [GRCh38]
Chr6:132207811 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2596G>A (p.Glu866Lys) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005037901]|not provided [RCV005063315] Chr6:131886713 [GRCh38]
Chr6:132207853 [GRCh37]
Chr6:6q23.2
likely pathogenic
NM_006208.3(ENPP1):c.2611G>A (p.Gly871Arg) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005037902] Chr6:131890344 [GRCh38]
Chr6:132211484 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2774A>G (p.Asp925Gly) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005037903] Chr6:131890507 [GRCh38]
Chr6:132211647 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1025+5G>A single nucleotide variant not provided [RCV005141425] Chr6:131861709 [GRCh38]
Chr6:132182849 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.556+6G>C single nucleotide variant not provided [RCV005141433] Chr6:131851273 [GRCh38]
Chr6:132172413 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1438-20T>C single nucleotide variant not provided [RCV005143021] Chr6:131872903 [GRCh38]
Chr6:132194043 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2200A>G (p.Lys734Glu) single nucleotide variant not provided [RCV005136072] Chr6:131882444 [GRCh38]
Chr6:132203584 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1989A>C (p.Arg663Ser) single nucleotide variant not provided [RCV005123216] Chr6:131879923 [GRCh38]
Chr6:132201063 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1809G>A (p.Lys603=) single nucleotide variant not provided [RCV005117159] Chr6:131877077 [GRCh38]
Chr6:132198217 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2T>G (p.Met1Arg) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005037852] Chr6:131808037 [GRCh38]
Chr6:132129177 [GRCh37]
Chr6:6q23.2
likely pathogenic
NM_006208.3(ENPP1):c.742A>G (p.Met248Val) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005037870] Chr6:131858694 [GRCh38]
Chr6:132179834 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.744G>A (p.Met248Ile) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005037871] Chr6:131858696 [GRCh38]
Chr6:132179836 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1026-15T>A single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005037874] Chr6:131864491 [GRCh38]
Chr6:132185631 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1723+5G>A single nucleotide variant not provided [RCV005124424] Chr6:131875868 [GRCh38]
Chr6:132197008 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2314A>C (p.Ile772Leu) single nucleotide variant not provided [RCV005064320] Chr6:131884933 [GRCh38]
Chr6:132206073 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1522G>A (p.Glu508Lys) single nucleotide variant not provided [RCV005116757] Chr6:131873007 [GRCh38]
Chr6:132194147 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1587T>C (p.Tyr529=) single nucleotide variant not provided [RCV005065465]|not specified [RCV005241081] Chr6:131874289 [GRCh38]
Chr6:132195429 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2426C>T (p.Ser809Phe) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005037895]|not provided [RCV005105263] Chr6:131885045 [GRCh38]
Chr6:132206185 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1026T>A (p.Gly342=) single nucleotide variant not provided [RCV005123282] Chr6:131864506 [GRCh38]
Chr6:132185646 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.6del (p.Glu2fs) deletion Arterial calcification, generalized, of infancy, 1 [RCV005037853] Chr6:131808041 [GRCh38]
Chr6:132129181 [GRCh37]
Chr6:6q23.2
likely pathogenic
NM_006208.3(ENPP1):c.73G>C (p.Ala25Pro) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005037854] Chr6:131808108 [GRCh38]
Chr6:132129248 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.82G>C (p.Gly28Arg) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005037856]|not provided [RCV005105258] Chr6:131808117 [GRCh38]
Chr6:132129257 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.124del (p.Asp42fs) deletion Arterial calcification, generalized, of infancy, 1 [RCV005037857] Chr6:131808156 [GRCh38]
Chr6:132129296 [GRCh37]
Chr6:6q23.2
likely pathogenic
NM_006208.3(ENPP1):c.168G>T (p.Gly56=) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005037858]|not provided [RCV005105259] Chr6:131808203 [GRCh38]
Chr6:132129343 [GRCh37]
Chr6:6q23.2
likely benign|uncertain significance
NM_006208.3(ENPP1):c.219C>G (p.Asn73Lys) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005037860] Chr6:131808254 [GRCh38]
Chr6:132129394 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.274G>T (p.Gly92Cys) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005037861] Chr6:131847809 [GRCh38]
Chr6:132168949 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.769_770del (p.Phe257fs) deletion Arterial calcification, generalized, of infancy, 1 [RCV005037872] Chr6:131858720..131858721 [GRCh38]
Chr6:132179860..132179861 [GRCh37]
Chr6:6q23.2
likely pathogenic
NM_006208.3(ENPP1):c.820A>T (p.Ile274Leu) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005037873] Chr6:131860411 [GRCh38]
Chr6:132181551 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2100T>C (p.Asn700=) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005037886] Chr6:131880034 [GRCh38]
Chr6:132201174 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2171A>G (p.His724Arg) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005037888] Chr6:131882415 [GRCh38]
Chr6:132203555 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2183T>C (p.Phe728Ser) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005037889] Chr6:131882427 [GRCh38]
Chr6:132203567 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2280A>T (p.Thr760=) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005037890] Chr6:131883743 [GRCh38]
Chr6:132204883 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2297A>G (p.Tyr766Cys) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005037891] Chr6:131883760 [GRCh38]
Chr6:132204900 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2312-1G>A single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005037892] Chr6:131884930 [GRCh38]
Chr6:132206070 [GRCh37]
Chr6:6q23.2
likely pathogenic
NM_006208.3(ENPP1):c.2316A>G (p.Ile772Met) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005037893] Chr6:131884935 [GRCh38]
Chr6:132206075 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2375A>G (p.Asn792Ser) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005037894]|not provided [RCV005105262] Chr6:131884994 [GRCh38]
Chr6:132206134 [GRCh37]
Chr6:6q23.2
pathogenic
NM_006208.3(ENPP1):c.304G>T (p.Ala102Ser) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005037862] Chr6:131847839 [GRCh38]
Chr6:132168979 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1133C>T (p.Ser378Leu) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005037876] Chr6:131864907 [GRCh38]
Chr6:132186047 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1303A>G (p.Ile435Val) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005037877] Chr6:131869387 [GRCh38]
Chr6:132190527 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1379C>G (p.Ser460Cys) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005037878] Chr6:131869463 [GRCh38]
Chr6:132190603 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1426C>T (p.Arg476Ter) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005037879]|not provided [RCV005105261] Chr6:131872090 [GRCh38]
Chr6:132193230 [GRCh37]
Chr6:6q23.2
pathogenic
NM_006208.3(ENPP1):c.1709A>G (p.Tyr570Cys) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005037880] Chr6:131875849 [GRCh38]
Chr6:132196989 [GRCh37]
Chr6:6q23.2
likely pathogenic
NM_006208.3(ENPP1):c.837G>A (p.Met279Ile) single nucleotide variant not provided [RCV005069854] Chr6:131860428 [GRCh38]
Chr6:132181568 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1714_1715del (p.Leu572fs) deletion not provided [RCV005207786] Chr6:131875854..131875855 [GRCh38]
Chr6:132196994..132196995 [GRCh37]
Chr6:6q23.2
pathogenic
NM_006208.3(ENPP1):c.1737G>T (p.Leu579Phe) single nucleotide variant not provided [RCV005163725] Chr6:131877005 [GRCh38]
Chr6:132198145 [GRCh37]
Chr6:6q23.2
likely pathogenic
NM_006208.3(ENPP1):c.1495T>C (p.Leu499=) single nucleotide variant not provided [RCV005172136] Chr6:131872980 [GRCh38]
Chr6:132194120 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.153C>T (p.Ala51=) single nucleotide variant not provided [RCV005172275] Chr6:131808188 [GRCh38]
Chr6:132129328 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.710A>G (p.Lys237Arg) single nucleotide variant not provided [RCV005190148] Chr6:131855018 [GRCh38]
Chr6:132176158 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2231-6_2231-5del deletion not provided [RCV005151757] Chr6:131883687..131883688 [GRCh38]
Chr6:132204827..132204828 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.323G>A (p.Cys108Tyr) single nucleotide variant not provided [RCV005166433] Chr6:131849999 [GRCh38]
Chr6:132171139 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2112T>C (p.Ser704=) single nucleotide variant not provided [RCV005192966] Chr6:131882356 [GRCh38]
Chr6:132203496 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2199C>G (p.Thr733=) single nucleotide variant not provided [RCV005169040] Chr6:131882443 [GRCh38]
Chr6:132203583 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.392A>G (p.Asn131Ser) single nucleotide variant not provided [RCV005072901] Chr6:131850068 [GRCh38]
Chr6:132171208 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1935T>C (p.Thr645=) single nucleotide variant not provided [RCV005072001] Chr6:131878583 [GRCh38]
Chr6:132199723 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.39C>T (p.Gly13=) single nucleotide variant not provided [RCV005155449] Chr6:131808074 [GRCh38]
Chr6:132129214 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.1437+1G>C single nucleotide variant not provided [RCV005203116] Chr6:131872102 [GRCh38]
Chr6:132193242 [GRCh37]
Chr6:6q23.2
pathogenic
NM_006208.3(ENPP1):c.132G>A (p.Gln44=) single nucleotide variant not provided [RCV005148862] Chr6:131808167 [GRCh38]
Chr6:132129307 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.298del (p.Ser100fs) deletion ENPP1-related disorder [RCV005250499] Chr6:131847832 [GRCh38]
Chr6:132168972 [GRCh37]
Chr6:6q23.2
pathogenic
NM_006208.3(ENPP1):c.61C>A (p.Arg21=) single nucleotide variant not provided [RCV005184712] Chr6:131808096 [GRCh38]
Chr6:132129236 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.825C>T (p.Ile275=) single nucleotide variant not provided [RCV005191692] Chr6:131860416 [GRCh38]
Chr6:132181556 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2230+6T>C single nucleotide variant not provided [RCV005079089] Chr6:131882480 [GRCh38]
Chr6:132203620 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2100+13C>T single nucleotide variant not provided [RCV005167394] Chr6:131880047 [GRCh38]
Chr6:132201187 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2724T>G (p.Val908=) single nucleotide variant not provided [RCV005071356] Chr6:131890457 [GRCh38]
Chr6:132211597 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.994A>C (p.Ile332Leu) single nucleotide variant not provided [RCV005153290] Chr6:131861673 [GRCh38]
Chr6:132182813 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.134C>T (p.Ala45Val) single nucleotide variant not provided [RCV005079527] Chr6:131808169 [GRCh38]
Chr6:132129309 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1154T>A (p.Val385Asp) single nucleotide variant not provided [RCV005073416] Chr6:131864928 [GRCh38]
Chr6:132186068 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.431-16T>C single nucleotide variant not provided [RCV005080557] Chr6:131851126 [GRCh38]
Chr6:132172266 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.2120A>C (p.Asp707Ala) single nucleotide variant not provided [RCV005175508] Chr6:131882364 [GRCh38]
Chr6:132203504 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.5A>G (p.Glu2Gly) single nucleotide variant not provided [RCV005183208] Chr6:131808040 [GRCh38]
Chr6:132129180 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.91C>A (p.Arg31=) single nucleotide variant not provided [RCV005148972] Chr6:131808126 [GRCh38]
Chr6:132129266 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.1893G>A (p.Ser631=) single nucleotide variant not provided [RCV005146518] Chr6:131877161 [GRCh38]
Chr6:132198301 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1893G>C (p.Ser631=) single nucleotide variant not provided [RCV005183862] Chr6:131877161 [GRCh38]
Chr6:132198301 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1636-12C>G single nucleotide variant not provided [RCV005169394] Chr6:131875764 [GRCh38]
Chr6:132196904 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.1989A>G (p.Arg663=) single nucleotide variant not provided [RCV005169240] Chr6:131879923 [GRCh38]
Chr6:132201063 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.84C>A (p.Gly28=) single nucleotide variant not provided [RCV005147709] Chr6:131808119 [GRCh38]
Chr6:132129259 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.1165-16T>A single nucleotide variant not provided [RCV005151949] Chr6:131868002 [GRCh38]
Chr6:132189142 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.982G>A (p.Glu328Lys) single nucleotide variant not provided [RCV005193452] Chr6:131861661 [GRCh38]
Chr6:132182801 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.617+6A>G single nucleotide variant not provided [RCV005186272] Chr6:131852241 [GRCh38]
Chr6:132173381 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1092-2A>C single nucleotide variant not provided [RCV005199048] Chr6:131864864 [GRCh38]
Chr6:132186004 [GRCh37]
Chr6:6q23.2
likely pathogenic
NM_006208.3(ENPP1):c.1567A>T (p.Asn523Tyr) single nucleotide variant not provided [RCV005164783] Chr6:131874269 [GRCh38]
Chr6:132195409 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.129G>C (p.Pro43=) single nucleotide variant not provided [RCV005180372] Chr6:131808164 [GRCh38]
Chr6:132129304 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.976G>A (p.Asp326Asn) single nucleotide variant not provided [RCV005165605] Chr6:131861655 [GRCh38]
Chr6:132182795 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2778AT[1] (p.Ter926=) microsatellite not provided [RCV005151044] Chr6:131890511..131890512 [GRCh38]
Chr6:132211651..132211652 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1515T>C (p.Asp505=) single nucleotide variant not provided [RCV005071110] Chr6:131873000 [GRCh38]
Chr6:132194140 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.852G>T (p.Met284Ile) single nucleotide variant not provided [RCV005068651] Chr6:131860443 [GRCh38]
Chr6:132181583 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1186del (p.Val396fs) deletion Arterial calcification, generalized, of infancy, 1 [RCV005360438] Chr6:131868037 [GRCh38]
Chr6:132189177 [GRCh37]
Chr6:6q23.2
likely pathogenic
NM_006208.3(ENPP1):c.1189G>A (p.Asp397Asn) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005393834] Chr6:131868042 [GRCh38]
Chr6:132189182 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2026C>T (p.Gln676Ter) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005360439] Chr6:131879960 [GRCh38]
Chr6:132201100 [GRCh37]
Chr6:6q23.2
likely pathogenic
NM_006208.3(ENPP1):c.1330G>C (p.Val444Leu) single nucleotide variant Inborn genetic diseases [RCV005327386] Chr6:131869414 [GRCh38]
Chr6:132190554 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.80A>C (p.Asn27Thr) single nucleotide variant Inborn genetic diseases [RCV005327387] Chr6:131808115 [GRCh38]
Chr6:132129255 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2479_2482dup (p.Pro828fs) duplication Arterial calcification, generalized, of infancy, 1 [RCV005037899] Chr6:131886595..131886596 [GRCh38]
Chr6:132207735..132207736 [GRCh37]
Chr6:6q23.2
likely pathogenic
NM_006208.3(ENPP1):c.2335A>C (p.Thr779Pro) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV000367937]|ENPP1-related disorder [RCV004535335]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000273426]|not provided [RCV000892095]|not specified [RCV000308699] Chr6:131884954 [GRCh38]
Chr6:132206094 [GRCh37]
Chr6:6q23.2
benign|likely benign
NM_006208.3(ENPP1):c.2230+177_2230+178del deletion not provided [RCV001597805] Chr6:131882649..131882650 [GRCh38]
Chr6:132203789..132203790 [GRCh37]
Chr6:6q23.2
benign
NM_006208.3(ENPP1):c.*1858C>G single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001156047]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001156046] Chr6:131892369 [GRCh38]
Chr6:132213509 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.*1940T>G single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV001156050]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001156051] Chr6:131892451 [GRCh38]
Chr6:132213591 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.665C>A (p.Ala222Glu) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV002273890] Chr6:131854973 [GRCh38]
Chr6:132176113 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1106C>T (p.Thr369Ile) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV002273891] Chr6:131864880 [GRCh38]
Chr6:132186020 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1273+2T>C single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV002273893] Chr6:131868128 [GRCh38]
Chr6:132189268 [GRCh37]
Chr6:6q23.2
pathogenic
NM_006208.3(ENPP1):c.2192del (p.Asn731fs) deletion Arterial calcification, generalized, of infancy, 1 [RCV002273895]|not provided [RCV005095982] Chr6:131882432 [GRCh38]
Chr6:132203572 [GRCh37]
Chr6:6q23.2
pathogenic
NM_006208.3(ENPP1):c.1348A>T (p.Ile450Phe) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005034381]|Inborn genetic diseases [RCV004617084]|not provided [RCV002720602] Chr6:131869432 [GRCh38]
Chr6:132190572 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.430+15G>A single nucleotide variant not provided [RCV002635995] Chr6:131850121 [GRCh38]
Chr6:132171261 [GRCh37]
Chr6:6q23.2
likely benign
NM_006208.3(ENPP1):c.103C>T (p.His35Tyr) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005036760]|Inborn genetic diseases [RCV003343285] Chr6:131808138 [GRCh38]
Chr6:132129278 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.1835T>C (p.Val612Ala) single nucleotide variant not provided [RCV003562606] Chr6:131877103 [GRCh38]
Chr6:132198243 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.52C>G (p.Arg18Gly) single nucleotide variant Inborn genetic diseases [RCV005325968]|not provided [RCV005065839] Chr6:131808087 [GRCh38]
Chr6:132129227 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2429T>C (p.Leu810Ser) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005037896] Chr6:131885048 [GRCh38]
Chr6:132206188 [GRCh37]
Chr6:6q23.2
uncertain significance
NM_006208.3(ENPP1):c.2430A>C (p.Leu810Phe) single nucleotide variant Arterial calcification, generalized, of infancy, 1 [RCV005037897] Chr6:131885049 [GRCh38]
Chr6:132206189 [GRCh37]
Chr6:6q23.2
uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:2639
Count of miRNA genes:1170
Interacting mature miRNAs:1442
Transcripts:ENST00000360971, ENST00000459624, ENST00000486853, ENST00000513998
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597608383GWAS1665243_Hcrystal arthropathy QTL GWAS1665243 (human)4e-17crystal arthropathy6131819872131819873Human
597247800GWAS1343874_Hchronic lymphocytic leukemia QTL GWAS1343874 (human)0.0000004leukocyte integrity trait (VT:0010898)6131860451131860452Human
597246203GWAS1342277_Hblood phosphate measurement QTL GWAS1342277 (human)7e-14blood phosphate amount (VT:0001565)blood phosphate level (CMO:0000504)6131872255131872256Human
597579005GWAS1635865_Hcrystal arthropathy QTL GWAS1635865 (human)2e-17crystal arthropathy6131810461131810462Human
597244351GWAS1340425_Hblood phosphate measurement QTL GWAS1340425 (human)2e-09blood phosphate amount (VT:0001565)blood phosphate level (CMO:0000504)6131872076131872077Human
597421875GWAS1517949_Hblood phosphate measurement QTL GWAS1517949 (human)9e-32blood phosphate amount (VT:0001565)blood phosphate level (CMO:0000504)6131827936131827937Human
597608343GWAS1665203_HChondrocalcinosis QTL GWAS1665203 (human)5e-19Chondrocalcinosis6131810461131810462Human
597119293GWAS1215367_Hblood phosphate measurement QTL GWAS1215367 (human)4e-11blood phosphate amount (VT:0001565)blood phosphate level (CMO:0000504)6131872076131872077Human
597119292GWAS1215366_Hblood phosphate measurement QTL GWAS1215366 (human)9e-13blood phosphate amount (VT:0001565)blood phosphate level (CMO:0000504)6131860504131860505Human
597246196GWAS1342270_Hblood phosphate measurement QTL GWAS1342270 (human)4e-15blood phosphate amount (VT:0001565)blood phosphate level (CMO:0000504)6131891668131891669Human

Markers in Region
D6S1656  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,138,813 - 132,139,022UniSTSGRCh37
Build 366132,180,506 - 132,180,715RGDNCBI36
Celera6132,885,929 - 132,886,138RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,714,391 - 129,714,606UniSTS
Marshfield Genetic Map6131.07RGD
Marshfield Genetic Map6131.07UniSTS
Genethon Genetic Map6131.4UniSTS
deCODE Assembly Map6130.94UniSTS
GeneMap99-GB4 RH Map6529.62UniSTS
Whitehead-YAC Contig Map6 UniSTS
WI-17341  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,214,922 - 132,215,052UniSTSGRCh37
Build 366132,256,615 - 132,256,745RGDNCBI36
Celera6132,962,043 - 132,962,173RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,790,530 - 129,790,660UniSTS
GeneMap99-GB4 RH Map6532.92UniSTS
Whitehead-RH Map6756.1UniSTS
NCBI RH Map61538.9UniSTS
RH46667  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,214,482 - 132,214,625UniSTSGRCh37
Build 366132,256,175 - 132,256,318RGDNCBI36
Celera6132,961,603 - 132,961,746RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,790,090 - 129,790,233UniSTS
GeneMap99-GB4 RH Map6529.82UniSTS
RH93800  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,215,982 - 132,216,129UniSTSGRCh37
Build 366132,257,675 - 132,257,822RGDNCBI36
Celera6132,963,103 - 132,963,250RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,791,587 - 129,791,734UniSTS
GeneMap99-GB4 RH Map6529.62UniSTS
RH98486  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,214,145 - 132,214,267UniSTSGRCh37
Build 366132,255,838 - 132,255,960RGDNCBI36
Celera6132,961,266 - 132,961,388RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,789,753 - 129,789,875UniSTS
GeneMap99-GB4 RH Map6529.62UniSTS
G59701  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,214,810 - 132,214,966UniSTSGRCh37
Build 366132,256,503 - 132,256,659RGDNCBI36
Celera6132,961,931 - 132,962,087RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,790,418 - 129,790,574UniSTS
TNG Radiation Hybrid Map665270.0UniSTS
G63382  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,167,755 - 132,168,099UniSTSGRCh37
Build 366132,209,448 - 132,209,792RGDNCBI36
Celera6132,914,882 - 132,915,226RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,743,342 - 129,743,686UniSTS
TNG Radiation Hybrid Map665258.0UniSTS
WI-18102  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,214,443 - 132,214,569UniSTSGRCh37
Build 366132,256,136 - 132,256,262RGDNCBI36
Celera6132,961,564 - 132,961,690RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,790,051 - 129,790,177UniSTS
GeneMap99-GB4 RH Map6529.6UniSTS
Whitehead-RH Map6751.2UniSTS
ECD01200  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,201,793 - 132,202,666UniSTSGRCh37
Build 366132,243,486 - 132,244,359RGDNCBI36
Celera6132,948,918 - 132,949,791RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,777,392 - 129,778,265UniSTS
ECD01277  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,188,150 - 132,189,020UniSTSGRCh37
Build 366132,229,843 - 132,230,713RGDNCBI36
Celera6132,935,275 - 132,936,145RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,763,750 - 129,764,620UniSTS
ECD01634  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,203,852 - 132,204,710UniSTSGRCh37
Build 366132,245,545 - 132,246,403RGDNCBI36
Celera6132,950,971 - 132,951,829RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,779,448 - 129,780,306UniSTS
ECD01987  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,187,221 - 132,188,066UniSTSGRCh37
Build 366132,228,914 - 132,229,759RGDNCBI36
Celera6132,934,346 - 132,935,191RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,762,821 - 129,763,666UniSTS
ECD02141  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,204,753 - 132,205,592UniSTSGRCh37
Build 366132,246,446 - 132,247,285RGDNCBI36
Celera6132,951,872 - 132,952,711RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,780,349 - 129,781,188UniSTS
ECD02468  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,185,080 - 132,185,908UniSTSGRCh37
Build 366132,226,773 - 132,227,601RGDNCBI36
Celera6132,932,205 - 132,933,033RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,760,680 - 129,761,508UniSTS
ECD02998  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,211,161 - 132,211,970UniSTSGRCh37
Build 366132,252,854 - 132,253,663RGDNCBI36
Celera6132,958,282 - 132,959,091RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,786,771 - 129,787,580UniSTS
ECD03542  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,212,042 - 132,212,833UniSTSGRCh37
Build 366132,253,735 - 132,254,526RGDNCBI36
Celera6132,959,163 - 132,959,954RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,787,652 - 129,788,444UniSTS
ECD04591  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,191,086 - 132,191,845UniSTSGRCh37
Build 366132,232,779 - 132,233,538RGDNCBI36
Celera6132,938,211 - 132,938,970RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,766,686 - 129,767,445UniSTS
ECD05326  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,214,303 - 132,215,041UniSTSGRCh37
GRCh376132,213,752 - 132,215,041UniSTSGRCh37
Build 366132,255,996 - 132,256,734RGDNCBI36
Celera6132,960,873 - 132,962,162UniSTS
Celera6132,961,424 - 132,962,162RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,789,911 - 129,790,649UniSTS
HuRef6129,789,360 - 129,790,649UniSTS
ECD06583  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,205,936 - 132,206,640UniSTSGRCh37
Build 366132,247,629 - 132,248,333RGDNCBI36
Celera6132,953,055 - 132,953,759RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,781,532 - 129,782,236UniSTS
ECD07069  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,186,060 - 132,186,751UniSTSGRCh37
Build 366132,227,753 - 132,228,444RGDNCBI36
Celera6132,933,185 - 132,933,876RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,761,660 - 129,762,351UniSTS
ECD07105  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,181,365 - 132,182,055UniSTSGRCh37
Build 366132,223,058 - 132,223,748RGDNCBI36
Celera6132,928,490 - 132,929,180RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,756,965 - 129,757,655UniSTS
ECD07697  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,207,374 - 132,208,048UniSTSGRCh37
Build 366132,249,067 - 132,249,741RGDNCBI36
Celera6132,954,493 - 132,955,167RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,782,970 - 129,783,647UniSTS
ECD07982  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,206,660 - 132,207,326UniSTSGRCh37
Build 366132,248,353 - 132,249,019RGDNCBI36
Celera6132,953,779 - 132,954,445RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,782,256 - 129,782,922UniSTS
ECD08356  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,199,684 - 132,200,340UniSTSGRCh37
Build 366132,241,377 - 132,242,033RGDNCBI36
Celera6132,946,809 - 132,947,465RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,775,284 - 129,775,940UniSTS
ECD09250  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,200,634 - 132,201,267UniSTSGRCh37
Build 366132,242,327 - 132,242,960RGDNCBI36
Celera6132,947,759 - 132,948,392RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,776,233 - 129,776,866UniSTS
ECD09443  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,215,771 - 132,216,399UniSTSGRCh37
Build 366132,257,464 - 132,258,092RGDNCBI36
Celera6132,962,892 - 132,963,520RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,791,376 - 129,792,004UniSTS
ECD10416  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,198,055 - 132,198,657UniSTSGRCh37
Build 366132,239,748 - 132,240,350RGDNCBI36
Celera6132,945,180 - 132,945,782RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,773,655 - 129,774,257UniSTS
ECD12029  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,196,994 - 132,197,548UniSTSGRCh37
Build 366132,238,687 - 132,239,241RGDNCBI36
Celera6132,944,119 - 132,944,673RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,772,594 - 129,773,148UniSTS
ECD13122  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,193,013 - 132,193,538UniSTSGRCh37
Build 366132,234,706 - 132,235,231RGDNCBI36
Celera6132,940,138 - 132,940,663RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,768,613 - 129,769,138UniSTS
ECD13520  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,193,754 - 132,194,269UniSTSGRCh37
Build 366132,235,447 - 132,235,962RGDNCBI36
Celera6132,940,879 - 132,941,394RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,769,354 - 129,769,869UniSTS
ECD13883  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,196,441 - 132,196,947UniSTSGRCh37
Build 366132,238,134 - 132,238,640RGDNCBI36
Celera6132,943,566 - 132,944,072RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,772,041 - 129,772,547UniSTS
ECD14078  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,190,115 - 132,190,616UniSTSGRCh37
Build 366132,231,808 - 132,232,309RGDNCBI36
Celera6132,937,240 - 132,937,741RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,765,715 - 129,766,216UniSTS
ECD14118  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,176,876 - 132,177,376UniSTSGRCh37
Build 366132,218,569 - 132,219,069RGDNCBI36
Celera6132,924,001 - 132,924,501RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,752,461 - 129,752,961UniSTS
ECD15171  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,178,962 - 132,179,438UniSTSGRCh37
Build 366132,220,655 - 132,221,131RGDNCBI36
Celera6132,926,087 - 132,926,563RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,754,547 - 129,755,023UniSTS
ECD16364  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,194,602 - 132,195,045UniSTSGRCh37
Build 366132,236,295 - 132,236,738RGDNCBI36
Celera6132,941,727 - 132,942,170RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,770,202 - 129,770,645UniSTS
ECD16617  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,182,509 - 132,182,941UniSTSGRCh37
Build 366132,224,202 - 132,224,634RGDNCBI36
Celera6132,929,634 - 132,930,066RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,758,109 - 129,758,541UniSTS
ECD18627  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,192,525 - 132,192,877UniSTSGRCh37
Build 366132,234,218 - 132,234,570RGDNCBI36
Celera6132,939,650 - 132,940,002RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,768,125 - 129,768,477UniSTS
ECD20031  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,203,358 - 132,203,657UniSTSGRCh37
Build 366132,245,051 - 132,245,350RGDNCBI36
Celera6132,950,483 - 132,950,782RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,778,961 - 129,779,259UniSTS
ECD20060  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,209,641 - 132,209,939UniSTSGRCh37
Build 366132,251,334 - 132,251,632RGDNCBI36
Celera6132,956,762 - 132,957,060RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,785,251 - 129,785,549UniSTS
ECD20897  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,208,253 - 132,208,520UniSTSGRCh37
Build 366132,249,946 - 132,250,213RGDNCBI36
Celera6132,955,372 - 132,955,639RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,783,856 - 129,784,123UniSTS
ECD20992  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,179,636 - 132,179,900UniSTSGRCh37
Build 366132,221,329 - 132,221,593RGDNCBI36
Celera6132,926,761 - 132,927,025RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,755,221 - 129,755,485UniSTS
ECD21274  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,184,265 - 132,184,519UniSTSGRCh37
Build 366132,225,958 - 132,226,212RGDNCBI36
Celera6132,931,390 - 132,931,644RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,759,865 - 129,760,119UniSTS
ECD22279  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,180,215 - 132,180,438UniSTSGRCh37
Build 366132,221,908 - 132,222,131RGDNCBI36
Celera6132,927,340 - 132,927,563RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,755,800 - 129,756,023UniSTS
ECD23242  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,189,119 - 132,189,313UniSTSGRCh37
Build 366132,230,812 - 132,231,006RGDNCBI36
Celera6132,936,244 - 132,936,438RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,764,719 - 129,764,913UniSTS
ECD24029  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,184,591 - 132,184,754UniSTSGRCh37
Build 366132,226,284 - 132,226,447RGDNCBI36
Celera6132,931,716 - 132,931,879RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,760,191 - 129,760,354UniSTS
ECD24424  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,199,095 - 132,199,224UniSTSGRCh37
Build 366132,240,788 - 132,240,917RGDNCBI36
Celera6132,946,220 - 132,946,349RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,774,695 - 129,774,824UniSTS
RH46619  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,214,810 - 132,214,975UniSTSGRCh37
Build 366132,256,503 - 132,256,668RGDNCBI36
Celera6132,961,931 - 132,962,096RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,790,418 - 129,790,583UniSTS
GeneMap99-GB4 RH Map6529.6UniSTS
REN28992  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,176,755 - 132,176,996UniSTSGRCh37
Build 366132,218,448 - 132,218,689RGDNCBI36
Celera6132,923,880 - 132,924,121RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,752,340 - 129,752,581UniSTS
REN28993  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,176,987 - 132,177,211UniSTSGRCh37
Build 366132,218,680 - 132,218,904RGDNCBI36
Celera6132,924,112 - 132,924,336RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,752,572 - 129,752,796UniSTS
REN28994  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,177,164 - 132,177,389UniSTSGRCh37
Build 366132,218,857 - 132,219,082RGDNCBI36
Celera6132,924,289 - 132,924,514RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,752,749 - 129,752,974UniSTS
REN28995  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,178,956 - 132,179,180UniSTSGRCh37
Build 366132,220,649 - 132,220,873RGDNCBI36
Celera6132,926,081 - 132,926,305RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,754,541 - 129,754,765UniSTS
REN28996  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,179,130 - 132,179,392UniSTSGRCh37
Build 366132,220,823 - 132,221,085RGDNCBI36
Celera6132,926,255 - 132,926,517RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,754,715 - 129,754,977UniSTS
REN28997  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,179,369 - 132,179,593UniSTSGRCh37
Build 366132,221,062 - 132,221,286RGDNCBI36
Celera6132,926,494 - 132,926,718RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,754,954 - 129,755,178UniSTS
REN28998  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,179,558 - 132,179,782UniSTSGRCh37
Build 366132,221,251 - 132,221,475RGDNCBI36
Celera6132,926,683 - 132,926,907RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,755,143 - 129,755,367UniSTS
REN28999  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,179,750 - 132,180,021UniSTSGRCh37
Build 366132,221,443 - 132,221,714RGDNCBI36
Celera6132,926,875 - 132,927,146RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,755,335 - 129,755,606UniSTS
REN29000  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,180,007 - 132,180,247UniSTSGRCh37
Build 366132,221,700 - 132,221,940RGDNCBI36
Celera6132,927,132 - 132,927,372RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,755,592 - 129,755,832UniSTS
REN29001  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,180,217 - 132,180,442UniSTSGRCh37
Build 366132,221,910 - 132,222,135RGDNCBI36
Celera6132,927,342 - 132,927,567RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,755,802 - 129,756,027UniSTS
REN29002  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,180,319 - 132,180,566UniSTSGRCh37
Build 366132,222,012 - 132,222,259RGDNCBI36
Celera6132,927,444 - 132,927,691RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,755,904 - 129,756,151UniSTS
REN29003  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,180,541 - 132,180,778UniSTSGRCh37
Build 366132,222,234 - 132,222,471RGDNCBI36
Celera6132,927,666 - 132,927,903RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,756,126 - 129,756,378UniSTS
REN29004  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,180,752 - 132,180,999UniSTSGRCh37
Build 366132,222,445 - 132,222,692RGDNCBI36
Celera6132,927,877 - 132,928,124RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,756,352 - 129,756,599UniSTS
REN29005  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,180,939 - 132,181,199UniSTSGRCh37
Build 366132,222,632 - 132,222,892RGDNCBI36
Celera6132,928,064 - 132,928,324RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,756,539 - 129,756,799UniSTS
REN29006  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,181,112 - 132,181,381UniSTSGRCh37
Build 366132,222,805 - 132,223,074RGDNCBI36
Celera6132,928,237 - 132,928,506RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,756,712 - 129,756,981UniSTS
REN29007  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,181,368 - 132,181,592UniSTSGRCh37
Build 366132,223,061 - 132,223,285RGDNCBI36
Celera6132,928,493 - 132,928,717RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,756,968 - 129,757,192UniSTS
REN29008  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,181,567 - 132,181,832UniSTSGRCh37
Build 366132,223,260 - 132,223,525RGDNCBI36
Celera6132,928,692 - 132,928,957RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,757,167 - 129,757,432UniSTS
REN29009  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,181,828 - 132,182,055UniSTSGRCh37
Build 366132,223,521 - 132,223,748RGDNCBI36
Celera6132,928,953 - 132,929,180RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,757,428 - 129,757,655UniSTS
REN29010  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,182,032 - 132,182,282UniSTSGRCh37
Build 366132,223,725 - 132,223,975RGDNCBI36
Celera6132,929,157 - 132,929,407RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,757,632 - 129,757,882UniSTS
REN29011  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,182,257 - 132,182,529UniSTSGRCh37
Build 366132,223,950 - 132,224,222RGDNCBI36
Celera6132,929,382 - 132,929,654RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,757,857 - 129,758,129UniSTS
REN29012  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,182,517 - 132,182,766UniSTSGRCh37
Build 366132,224,210 - 132,224,459RGDNCBI36
Celera6132,929,642 - 132,929,891RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,758,117 - 129,758,366UniSTS
REN29013  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,182,742 - 132,183,008UniSTSGRCh37
Build 366132,224,435 - 132,224,701RGDNCBI36
Celera6132,929,867 - 132,930,133RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,758,342 - 129,758,608UniSTS
REN29014  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,182,913 - 132,183,137UniSTSGRCh37
Build 366132,224,606 - 132,224,830RGDNCBI36
Celera6132,930,038 - 132,930,262RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,758,513 - 129,758,737UniSTS
REN29015  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,183,112 - 132,183,380UniSTSGRCh37
Build 366132,224,805 - 132,225,073RGDNCBI36
Celera6132,930,237 - 132,930,505RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,758,712 - 129,758,980UniSTS
REN29016  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,183,371 - 132,183,599UniSTSGRCh37
Build 366132,225,064 - 132,225,292RGDNCBI36
Celera6132,930,496 - 132,930,724RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,758,971 - 129,759,199UniSTS
REN29017  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,183,561 - 132,183,810UniSTSGRCh37
Build 366132,225,254 - 132,225,503RGDNCBI36
Celera6132,930,686 - 132,930,935RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,759,161 - 129,759,410UniSTS
REN29018  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,183,788 - 132,184,038UniSTSGRCh37
Build 366132,225,481 - 132,225,731RGDNCBI36
Celera6132,930,913 - 132,931,163RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,759,388 - 129,759,638UniSTS
REN29019  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,184,017 - 132,184,281UniSTSGRCh37
Build 366132,225,710 - 132,225,974RGDNCBI36
Celera6132,931,142 - 132,931,406RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,759,617 - 129,759,881UniSTS
REN29020  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,184,253 - 132,184,513UniSTSGRCh37
Build 366132,225,946 - 132,226,206RGDNCBI36
Celera6132,931,378 - 132,931,638RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,759,853 - 129,760,113UniSTS
REN29021  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,184,498 - 132,184,737UniSTSGRCh37
Build 366132,226,191 - 132,226,430RGDNCBI36
Celera6132,931,623 - 132,931,862RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,760,098 - 129,760,337UniSTS
REN29022  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,184,555 - 132,184,779UniSTSGRCh37
Build 366132,226,248 - 132,226,472RGDNCBI36
Celera6132,931,680 - 132,931,904RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,760,155 - 129,760,379UniSTS
REN29023  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,184,843 - 132,185,091UniSTSGRCh37
Build 366132,226,536 - 132,226,784RGDNCBI36
Celera6132,931,968 - 132,932,216RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,760,443 - 129,760,691UniSTS
REN29024  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,185,064 - 132,185,314UniSTSGRCh37
Build 366132,226,757 - 132,227,007RGDNCBI36
Celera6132,932,189 - 132,932,439RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,760,664 - 129,760,914UniSTS
REN29025  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,185,299 - 132,185,548UniSTSGRCh37
Build 366132,226,992 - 132,227,241RGDNCBI36
Celera6132,932,424 - 132,932,673RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,760,899 - 129,761,148UniSTS
REN29026  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,185,505 - 132,185,731UniSTSGRCh37
Build 366132,227,198 - 132,227,424RGDNCBI36
Celera6132,932,630 - 132,932,856RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,761,105 - 129,761,331UniSTS
REN29027  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,185,692 - 132,185,931UniSTSGRCh37
Build 366132,227,385 - 132,227,624RGDNCBI36
Celera6132,932,817 - 132,933,056RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,761,292 - 129,761,531UniSTS
REN29028  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,185,901 - 132,186,164UniSTSGRCh37
Build 366132,227,594 - 132,227,857RGDNCBI36
Celera6132,933,026 - 132,933,289RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,761,501 - 129,761,764UniSTS
REN29029  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,186,157 - 132,186,416UniSTSGRCh37
Build 366132,227,850 - 132,228,109RGDNCBI36
Celera6132,933,282 - 132,933,541RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,761,757 - 129,762,016UniSTS
REN29030  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,186,404 - 132,186,659UniSTSGRCh37
Build 366132,228,097 - 132,228,352RGDNCBI36
Celera6132,933,529 - 132,933,784RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,762,004 - 129,762,259UniSTS
REN29031  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,186,605 - 132,186,856UniSTSGRCh37
Build 366132,228,298 - 132,228,549RGDNCBI36
Celera6132,933,730 - 132,933,981RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,762,205 - 129,762,456UniSTS
REN29032  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,186,821 - 132,187,079UniSTSGRCh37
Build 366132,228,514 - 132,228,772RGDNCBI36
Celera6132,933,946 - 132,934,204RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,762,421 - 129,762,679UniSTS
REN29033  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,187,060 - 132,187,306UniSTSGRCh37
Build 366132,228,753 - 132,228,999RGDNCBI36
Celera6132,934,185 - 132,934,431RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,762,660 - 129,762,906UniSTS
REN29034  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,187,284 - 132,187,538UniSTSGRCh37
Build 366132,228,977 - 132,229,231RGDNCBI36
Celera6132,934,409 - 132,934,663RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,762,884 - 129,763,138UniSTS
REN29035  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,187,517 - 132,187,767UniSTSGRCh37
Build 366132,229,210 - 132,229,460RGDNCBI36
Celera6132,934,642 - 132,934,892RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,763,117 - 129,763,367UniSTS
REN29036  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,187,744 - 132,187,993UniSTSGRCh37
Build 366132,229,437 - 132,229,686RGDNCBI36
Celera6132,934,869 - 132,935,118RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,763,344 - 129,763,593UniSTS
REN29037  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,187,988 - 132,188,235UniSTSGRCh37
Build 366132,229,681 - 132,229,928RGDNCBI36
Celera6132,935,113 - 132,935,360RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,763,588 - 129,763,835UniSTS
REN29038  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,188,233 - 132,188,493UniSTSGRCh37
Build 366132,229,926 - 132,230,186RGDNCBI36
Celera6132,935,358 - 132,935,618RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,763,833 - 129,764,093UniSTS
REN29039  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,188,470 - 132,188,714UniSTSGRCh37
Build 366132,230,163 - 132,230,407RGDNCBI36
Celera6132,935,595 - 132,935,839RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,764,070 - 129,764,314UniSTS
REN29040  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,188,680 - 132,188,938UniSTSGRCh37
Build 366132,230,373 - 132,230,631RGDNCBI36
Celera6132,935,805 - 132,936,063RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,764,280 - 129,764,538UniSTS
REN29041  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,188,913 - 132,189,160UniSTSGRCh37
Build 366132,230,606 - 132,230,853RGDNCBI36
Celera6132,936,038 - 132,936,285RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,764,513 - 129,764,760UniSTS
REN29042  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,189,140 - 132,189,401UniSTSGRCh37
Build 366132,230,833 - 132,231,094RGDNCBI36
Celera6132,936,265 - 132,936,526RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,764,740 - 129,765,001UniSTS
REN29043  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,189,271 - 132,189,495UniSTSGRCh37
Build 366132,230,964 - 132,231,188RGDNCBI36
Celera6132,936,396 - 132,936,620RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,764,871 - 129,765,095UniSTS
REN29044  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,189,552 - 132,189,785UniSTSGRCh37
Build 366132,231,245 - 132,231,478RGDNCBI36
Celera6132,936,677 - 132,936,910RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,765,152 - 129,765,385UniSTS
REN29045  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,189,769 - 132,190,007UniSTSGRCh37
Build 366132,231,462 - 132,231,700RGDNCBI36
Celera6132,936,894 - 132,937,132RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,765,369 - 129,765,607UniSTS
REN29046  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,190,005 - 132,190,252UniSTSGRCh37
Build 366132,231,698 - 132,231,945RGDNCBI36
Celera6132,937,130 - 132,937,377RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,765,605 - 129,765,852UniSTS
REN29047  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,190,237 - 132,190,484UniSTSGRCh37
Build 366132,231,930 - 132,232,177RGDNCBI36
Celera6132,937,362 - 132,937,609RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,765,837 - 129,766,084UniSTS
REN29048  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,190,459 - 132,190,692UniSTSGRCh37
Build 366132,232,152 - 132,232,385RGDNCBI36
Celera6132,937,584 - 132,937,817RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,766,059 - 129,766,292UniSTS
REN29049  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,190,884 - 132,191,108UniSTSGRCh37
Build 366132,232,577 - 132,232,801RGDNCBI36
Celera6132,938,009 - 132,938,233RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,766,484 - 129,766,708UniSTS
REN29050  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,191,082 - 132,191,337UniSTSGRCh37
Build 366132,232,775 - 132,233,030RGDNCBI36
Celera6132,938,207 - 132,938,462RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,766,682 - 129,766,937UniSTS
REN29051  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,191,307 - 132,191,549UniSTSGRCh37
Build 366132,233,000 - 132,233,242RGDNCBI36
Celera6132,938,432 - 132,938,674RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,766,907 - 129,767,149UniSTS
REN29052  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,191,515 - 132,191,740UniSTSGRCh37
Build 366132,233,208 - 132,233,433RGDNCBI36
Celera6132,938,640 - 132,938,865RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,767,115 - 129,767,340UniSTS
REN29053  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,191,705 - 132,191,950UniSTSGRCh37
Build 366132,233,398 - 132,233,643RGDNCBI36
Celera6132,938,830 - 132,939,075RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,767,305 - 129,767,550UniSTS
REN29054  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,191,838 - 132,192,087UniSTSGRCh37
Build 366132,233,531 - 132,233,780RGDNCBI36
Celera6132,938,963 - 132,939,212RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,767,438 - 129,767,687UniSTS
REN29055  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,192,033 - 132,192,275UniSTSGRCh37
Build 366132,233,726 - 132,233,968RGDNCBI36
Celera6132,939,158 - 132,939,400RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,767,633 - 129,767,875UniSTS
REN29056  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,192,252 - 132,192,496UniSTSGRCh37
Build 366132,233,945 - 132,234,189RGDNCBI36
Celera6132,939,377 - 132,939,621RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,767,852 - 129,768,096UniSTS
REN29057  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,192,462 - 132,192,712UniSTSGRCh37
Build 366132,234,155 - 132,234,405RGDNCBI36
Celera6132,939,587 - 132,939,837RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,768,062 - 129,768,312UniSTS
REN29058  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,192,698 - 132,192,960UniSTSGRCh37
Build 366132,234,391 - 132,234,653RGDNCBI36
Celera6132,939,823 - 132,940,085RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,768,298 - 129,768,560UniSTS
REN29059  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,192,937 - 132,193,210UniSTSGRCh37
Build 366132,234,630 - 132,234,903RGDNCBI36
Celera6132,940,062 - 132,940,335RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,768,537 - 129,768,810UniSTS
REN29060  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,193,185 - 132,193,421UniSTSGRCh37
Build 366132,234,878 - 132,235,114RGDNCBI36
Celera6132,940,310 - 132,940,546RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,768,785 - 129,769,021UniSTS
REN29061  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,193,360 - 132,193,584UniSTSGRCh37
Build 366132,235,053 - 132,235,277RGDNCBI36
Celera6132,940,485 - 132,940,709RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,768,960 - 129,769,184UniSTS
REN29062  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,193,554 - 132,193,779UniSTSGRCh37
Build 366132,235,247 - 132,235,472RGDNCBI36
Celera6132,940,679 - 132,940,904RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,769,154 - 129,769,379UniSTS
REN29063  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,193,746 - 132,193,999UniSTSGRCh37
Build 366132,235,439 - 132,235,692RGDNCBI36
Celera6132,940,871 - 132,941,124RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,769,346 - 129,769,599UniSTS
REN29064  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,193,971 - 132,194,220UniSTSGRCh37
Build 366132,235,664 - 132,235,913RGDNCBI36
Celera6132,941,096 - 132,941,345RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,769,571 - 129,769,820UniSTS
REN29065  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,194,207 - 132,194,441UniSTSGRCh37
Build 366132,235,900 - 132,236,134RGDNCBI36
Celera6132,941,332 - 132,941,566RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,769,807 - 129,770,041UniSTS
REN29066  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,194,438 - 132,194,662UniSTSGRCh37
Build 366132,236,131 - 132,236,355RGDNCBI36
Celera6132,941,563 - 132,941,787RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,770,038 - 129,770,262UniSTS
REN29067  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,194,640 - 132,194,888UniSTSGRCh37
Build 366132,236,333 - 132,236,581RGDNCBI36
Celera6132,941,765 - 132,942,013RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,770,240 - 129,770,488UniSTS
REN29068  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,194,881 - 132,195,106UniSTSGRCh37
Build 366132,236,574 - 132,236,799RGDNCBI36
Celera6132,942,006 - 132,942,231RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,770,481 - 129,770,706UniSTS
REN29069  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,195,087 - 132,195,311UniSTSGRCh37
Build 366132,236,780 - 132,237,004RGDNCBI36
Celera6132,942,212 - 132,942,436RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,770,687 - 129,770,911UniSTS
REN29070  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,195,287 - 132,195,552UniSTSGRCh37
Build 366132,236,980 - 132,237,245RGDNCBI36
Celera6132,942,412 - 132,942,677RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,770,887 - 129,771,152UniSTS
REN29071  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,195,529 - 132,195,753UniSTSGRCh37
Build 366132,237,222 - 132,237,446RGDNCBI36
Celera6132,942,654 - 132,942,878RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,771,129 - 129,771,353UniSTS
REN29072  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,195,709 - 132,195,933UniSTSGRCh37
Build 366132,237,402 - 132,237,626RGDNCBI36
Celera6132,942,834 - 132,943,058RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,771,309 - 129,771,533UniSTS
REN29073  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,195,900 - 132,196,164UniSTSGRCh37
Build 366132,237,593 - 132,237,857RGDNCBI36
Celera6132,943,025 - 132,943,289RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,771,500 - 129,771,764UniSTS
REN29074  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,196,134 - 132,196,359UniSTSGRCh37
Build 366132,237,827 - 132,238,052RGDNCBI36
Celera6132,943,259 - 132,943,484RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,771,734 - 129,771,959UniSTS
REN29075  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,196,321 - 132,196,568UniSTSGRCh37
Build 366132,238,014 - 132,238,261RGDNCBI36
Celera6132,943,446 - 132,943,693RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,771,921 - 129,772,168UniSTS
REN29076  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,196,540 - 132,196,790UniSTSGRCh37
Build 366132,238,233 - 132,238,483RGDNCBI36
Celera6132,943,665 - 132,943,915RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,772,140 - 129,772,390UniSTS
REN29077  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,196,784 - 132,197,020UniSTSGRCh37
Build 366132,238,477 - 132,238,713RGDNCBI36
Celera6132,943,909 - 132,944,145RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,772,384 - 129,772,620UniSTS
REN29078  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,196,997 - 132,197,237UniSTSGRCh37
Build 366132,238,690 - 132,238,930RGDNCBI36
Celera6132,944,122 - 132,944,362RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,772,597 - 129,772,837UniSTS
REN29079  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,197,203 - 132,197,449UniSTSGRCh37
Build 366132,238,896 - 132,239,142RGDNCBI36
Celera6132,944,328 - 132,944,574RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,772,803 - 129,773,049UniSTS
REN29080  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,197,430 - 132,197,654UniSTSGRCh37
Build 366132,239,123 - 132,239,347RGDNCBI36
Celera6132,944,555 - 132,944,779RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,773,030 - 129,773,254UniSTS
REN29081  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,197,628 - 132,197,885UniSTSGRCh37
Build 366132,239,321 - 132,239,578RGDNCBI36
Celera6132,944,753 - 132,945,010RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,773,228 - 129,773,485UniSTS
REN29082  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,197,868 - 132,198,139UniSTSGRCh37
Build 366132,239,561 - 132,239,832RGDNCBI36
Celera6132,944,993 - 132,945,264RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,773,468 - 129,773,739UniSTS
REN29083  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,198,127 - 132,198,360UniSTSGRCh37
Build 366132,239,820 - 132,240,053RGDNCBI36
Celera6132,945,252 - 132,945,485RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,773,727 - 129,773,960UniSTS
REN29084  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,198,351 - 132,198,591UniSTSGRCh37
Build 366132,240,044 - 132,240,284RGDNCBI36
Celera6132,945,476 - 132,945,716RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,773,951 - 129,774,191UniSTS
REN29085  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,198,537 - 132,198,763UniSTSGRCh37
Build 366132,240,230 - 132,240,456RGDNCBI36
Celera6132,945,662 - 132,945,888RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,774,137 - 129,774,363UniSTS
REN29086  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,198,632 - 132,198,858UniSTSGRCh37
Build 366132,240,325 - 132,240,551RGDNCBI36
Celera6132,945,757 - 132,945,983RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,774,232 - 129,774,458UniSTS
REN29087  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,198,835 - 132,199,089UniSTSGRCh37
Build 366132,240,528 - 132,240,782RGDNCBI36
Celera6132,945,960 - 132,946,214RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,774,435 - 129,774,689UniSTS
REN29088  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,199,041 - 132,199,288UniSTSGRCh37
Build 366132,240,734 - 132,240,981RGDNCBI36
Celera6132,946,166 - 132,946,413RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,774,641 - 129,774,888UniSTS
REN29089  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,199,245 - 132,199,486UniSTSGRCh37
Build 366132,240,938 - 132,241,179RGDNCBI36
Celera6132,946,370 - 132,946,611RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,774,845 - 129,775,086UniSTS
REN29090  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,199,460 - 132,199,702UniSTSGRCh37
Build 366132,241,153 - 132,241,395RGDNCBI36
Celera6132,946,585 - 132,946,827RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,775,060 - 129,775,302UniSTS
REN29091  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,199,689 - 132,199,939UniSTSGRCh37
Build 366132,241,382 - 132,241,632RGDNCBI36
Celera6132,946,814 - 132,947,064RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,775,289 - 129,775,539UniSTS
REN29092  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,199,916 - 132,200,152UniSTSGRCh37
Build 366132,241,609 - 132,241,845RGDNCBI36
Celera6132,947,041 - 132,947,277RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,775,516 - 129,775,752UniSTS
REN29093  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,200,127 - 132,200,381UniSTSGRCh37
Build 366132,241,820 - 132,242,074RGDNCBI36
Celera6132,947,252 - 132,947,506RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,775,727 - 129,775,981UniSTS
REN29094  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,200,322 - 132,200,563UniSTSGRCh37
Build 366132,242,015 - 132,242,256RGDNCBI36
Celera6132,947,447 - 132,947,688RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,775,922 - 129,776,163UniSTS
REN29095  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,200,540 - 132,200,792UniSTSGRCh37
Build 366132,242,233 - 132,242,485RGDNCBI36
Celera6132,947,665 - 132,947,917RGD
Cytogenetic Map6q22-q23UniSTS
REN29096  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,200,768 - 132,201,027UniSTSGRCh37
Build 366132,242,461 - 132,242,720RGDNCBI36
Celera6132,947,893 - 132,948,152RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,776,367 - 129,776,626UniSTS
REN29097  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,201,004 - 132,201,265UniSTSGRCh37
Build 366132,242,697 - 132,242,958RGDNCBI36
Celera6132,948,129 - 132,948,390RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,776,603 - 129,776,864UniSTS
REN29098  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,201,197 - 132,201,428UniSTSGRCh37
Build 366132,242,890 - 132,243,121RGDNCBI36
Celera6132,948,322 - 132,948,553RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,776,796 - 129,777,027UniSTS
REN29099  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,201,399 - 132,201,650UniSTSGRCh37
Build 366132,243,092 - 132,243,343RGDNCBI36
Celera6132,948,524 - 132,948,775RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,776,998 - 129,777,249UniSTS
REN29100  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,201,749 - 132,201,973UniSTSGRCh37
Build 366132,243,442 - 132,243,666RGDNCBI36
Celera6132,948,874 - 132,949,098RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,777,348 - 129,777,572UniSTS
REN29101  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,201,946 - 132,202,202UniSTSGRCh37
Build 366132,243,639 - 132,243,895RGDNCBI36
Celera6132,949,071 - 132,949,327RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,777,545 - 129,777,801UniSTS
REN29102  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,202,197 - 132,202,458UniSTSGRCh37
Build 366132,243,890 - 132,244,151RGDNCBI36
Celera6132,949,322 - 132,949,583RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,777,796 - 129,778,057UniSTS
REN29103  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,202,427 - 132,202,682UniSTSGRCh37
Build 366132,244,120 - 132,244,375RGDNCBI36
Celera6132,949,552 - 132,949,807RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,778,026 - 129,778,281UniSTS
REN29104  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,202,499 - 132,202,751UniSTSGRCh37
Build 366132,244,192 - 132,244,444RGDNCBI36
Celera6132,949,624 - 132,949,876RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,778,098 - 129,778,350UniSTS
REN29105  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,203,237 - 132,203,461UniSTSGRCh37
Build 366132,244,930 - 132,245,154RGDNCBI36
Celera6132,950,362 - 132,950,586RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,778,840 - 129,779,064UniSTS
REN29106  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,203,429 - 132,203,654UniSTSGRCh37
Build 366132,245,122 - 132,245,347RGDNCBI36
Celera6132,950,554 - 132,950,779RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,779,032 - 129,779,256UniSTS
REN29107  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,203,627 - 132,203,871UniSTSGRCh37
Build 366132,245,320 - 132,245,564RGDNCBI36
Celera6132,950,752 - 132,950,990RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,779,229 - 129,779,467UniSTS
REN29108  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,203,850 - 132,204,074UniSTSGRCh37
Build 366132,245,543 - 132,245,767RGDNCBI36
Celera6132,950,969 - 132,951,193RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,779,446 - 129,779,670UniSTS
REN29109  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,204,047 - 132,204,302UniSTSGRCh37
Build 366132,245,740 - 132,245,995RGDNCBI36
Celera6132,951,166 - 132,951,421RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,779,643 - 129,779,898UniSTS
REN29110  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,204,279 - 132,204,535UniSTSGRCh37
Build 366132,245,972 - 132,246,228RGDNCBI36
Celera6132,951,398 - 132,951,654RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,779,875 - 129,780,131UniSTS
REN29111  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,204,510 - 132,204,741UniSTSGRCh37
Build 366132,246,203 - 132,246,434RGDNCBI36
Celera6132,951,629 - 132,951,860RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,780,106 - 129,780,337UniSTS
REN29112  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,204,697 - 132,204,921UniSTSGRCh37
Build 366132,246,390 - 132,246,614RGDNCBI36
Celera6132,951,816 - 132,952,040RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,780,293 - 129,780,517UniSTS
REN29113  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,204,889 - 132,205,152UniSTSGRCh37
Build 366132,246,582 - 132,246,845RGDNCBI36
Celera6132,952,008 - 132,952,271RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,780,485 - 129,780,748UniSTS
REN29114  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,204,954 - 132,205,217UniSTSGRCh37
Build 366132,246,647 - 132,246,910RGDNCBI36
Celera6132,952,073 - 132,952,336RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,780,550 - 129,780,813UniSTS
REN29115  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,205,194 - 132,205,456UniSTSGRCh37
Build 366132,246,887 - 132,247,149RGDNCBI36
Celera6132,952,313 - 132,952,575RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,780,790 - 129,781,052UniSTS
REN29116  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,205,439 - 132,205,698UniSTSGRCh37
Build 366132,247,132 - 132,247,391RGDNCBI36
Celera6132,952,558 - 132,952,817RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,781,035 - 129,781,294UniSTS
REN29117  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,205,674 - 132,205,923UniSTSGRCh37
Build 366132,247,367 - 132,247,616RGDNCBI36
Celera6132,952,793 - 132,953,042RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,781,270 - 129,781,519UniSTS
REN29118  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,205,888 - 132,206,141UniSTSGRCh37
Build 366132,247,581 - 132,247,834RGDNCBI36
Celera6132,953,007 - 132,953,260RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,781,484 - 129,781,737UniSTS
REN29119  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,206,139 - 132,206,387UniSTSGRCh37
Build 366132,247,832 - 132,248,080RGDNCBI36
Celera6132,953,258 - 132,953,506RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,781,735 - 129,781,983UniSTS
REN29120  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,206,364 - 132,206,615UniSTSGRCh37
Build 366132,248,057 - 132,248,308RGDNCBI36
Celera6132,953,483 - 132,953,734RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,781,960 - 129,782,211UniSTS
REN29121  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,206,591 - 132,206,856UniSTSGRCh37
Build 366132,248,284 - 132,248,549RGDNCBI36
Celera6132,953,710 - 132,953,975RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,782,187 - 129,782,452UniSTS
REN29122  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,206,767 - 132,207,016UniSTSGRCh37
Build 366132,248,460 - 132,248,709RGDNCBI36
Celera6132,953,886 - 132,954,135RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,782,363 - 129,782,612UniSTS
REN29123  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,206,998 - 132,207,256UniSTSGRCh37
Build 366132,248,691 - 132,248,949RGDNCBI36
Celera6132,954,117 - 132,954,375RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,782,594 - 129,782,852UniSTS
REN29124  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,207,229 - 132,207,453UniSTSGRCh37
Build 366132,248,922 - 132,249,146RGDNCBI36
Celera6132,954,348 - 132,954,572RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,782,825 - 129,783,049UniSTS
REN29125  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,207,400 - 132,207,655UniSTSGRCh37
Build 366132,249,093 - 132,249,348RGDNCBI36
Celera6132,954,519 - 132,954,774RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,782,996 - 129,783,251UniSTS
REN29126  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,207,629 - 132,207,875UniSTSGRCh37
Build 366132,249,322 - 132,249,568RGDNCBI36
Celera6132,954,748 - 132,954,994RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,783,225 - 129,783,471UniSTS
REN29127  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,207,827 - 132,208,051UniSTSGRCh37
Build 366132,249,520 - 132,249,744RGDNCBI36
Celera6132,954,946 - 132,955,170RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,783,423 - 129,783,650UniSTS
REN29128  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,208,025 - 132,208,263UniSTSGRCh37
Build 366132,249,718 - 132,249,956RGDNCBI36
Celera6132,955,144 - 132,955,382RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,783,624 - 129,783,866UniSTS
REN29129  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,208,230 - 132,208,455UniSTSGRCh37
Build 366132,249,923 - 132,250,148RGDNCBI36
Celera6132,955,349 - 132,955,574RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,783,833 - 129,784,058UniSTS
REN29130  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,208,313 - 132,208,744UniSTSGRCh37
GRCh376132,208,313 - 132,208,578UniSTSGRCh37
Build 366132,250,006 - 132,250,271RGDNCBI36
Celera6132,955,432 - 132,955,698RGD
Celera6132,955,432 - 132,955,864UniSTS
Cytogenetic Map6q22-q23UniSTS
HuRef6129,783,916 - 129,784,183UniSTS
HuRef6129,783,916 - 129,784,353UniSTS
REN29131  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,208,498 - 132,208,746UniSTSGRCh37
GRCh376132,208,498 - 132,208,580UniSTSGRCh37
Build 366132,250,191 - 132,250,273RGDNCBI36
Celera6132,955,617 - 132,955,700RGD
Celera6132,955,617 - 132,955,866UniSTS
Cytogenetic Map6q22-q23UniSTS
HuRef6129,784,101 - 129,784,185UniSTS
HuRef6129,784,101 - 129,784,355UniSTS
REN29132  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,209,210 - 132,209,458UniSTSGRCh37
Build 366132,250,903 - 132,251,151RGDNCBI36
Celera6132,956,330 - 132,956,579RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,784,819 - 129,785,068UniSTS
REN29133  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,209,439 - 132,209,678UniSTSGRCh37
Build 366132,251,132 - 132,251,371RGDNCBI36
Celera6132,956,560 - 132,956,799RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,785,049 - 129,785,288UniSTS
REN29134  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,209,675 - 132,209,921UniSTSGRCh37
Build 366132,251,368 - 132,251,614RGDNCBI36
Celera6132,956,796 - 132,957,042RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,785,285 - 129,785,531UniSTS
REN29135  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,209,915 - 132,210,148UniSTSGRCh37
Build 366132,251,608 - 132,251,841RGDNCBI36
Celera6132,957,036 - 132,957,269RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,785,525 - 129,785,758UniSTS
REN29136  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,210,110 - 132,210,361UniSTSGRCh37
Build 366132,251,803 - 132,252,054RGDNCBI36
Celera6132,957,231 - 132,957,482RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,785,720 - 129,785,971UniSTS
REN29137  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,210,338 - 132,210,599UniSTSGRCh37
Build 366132,252,031 - 132,252,292RGDNCBI36
Celera6132,957,459 - 132,957,720RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,785,948 - 129,786,209UniSTS
REN29138  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,210,540 - 132,210,793UniSTSGRCh37
Build 366132,252,233 - 132,252,486RGDNCBI36
Celera6132,957,661 - 132,957,914RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,786,150 - 129,786,403UniSTS
REN29139  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,210,685 - 132,210,909UniSTSGRCh37
Build 366132,252,378 - 132,252,602RGDNCBI36
Celera6132,957,806 - 132,958,030RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,786,295 - 129,786,519UniSTS
REN29140  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,210,887 - 132,211,145UniSTSGRCh37
Build 366132,252,580 - 132,252,838RGDNCBI36
Celera6132,958,008 - 132,958,266RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,786,497 - 129,786,755UniSTS
REN29141  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,211,120 - 132,211,352UniSTSGRCh37
Build 366132,252,813 - 132,253,045RGDNCBI36
Celera6132,958,241 - 132,958,473RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,786,730 - 129,786,962UniSTS
REN29142  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,211,329 - 132,211,579UniSTSGRCh37
Build 366132,253,022 - 132,253,272RGDNCBI36
Celera6132,958,450 - 132,958,700RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,786,939 - 129,787,189UniSTS
REN29143  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,211,577 - 132,211,837UniSTSGRCh37
Build 366132,253,270 - 132,253,530RGDNCBI36
Celera6132,958,698 - 132,958,958RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,787,187 - 129,787,447UniSTS
REN29144  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,211,814 - 132,212,052UniSTSGRCh37
Build 366132,253,507 - 132,253,745RGDNCBI36
Celera6132,958,935 - 132,959,173RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,787,424 - 129,787,662UniSTS
REN29145  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,212,044 - 132,212,302UniSTSGRCh37
Build 366132,253,737 - 132,253,995RGDNCBI36
Celera6132,959,165 - 132,959,423RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,787,654 - 129,787,912UniSTS
REN29146  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,212,287 - 132,212,555UniSTSGRCh37
Build 366132,253,980 - 132,254,248RGDNCBI36
Celera6132,959,408 - 132,959,676RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,787,897 - 129,788,166UniSTS
REN29147  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,212,532 - 132,212,757UniSTSGRCh37
Build 366132,254,225 - 132,254,450RGDNCBI36
Celera6132,959,653 - 132,959,878RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,788,143 - 129,788,368UniSTS
REN29148  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,212,733 - 132,212,968UniSTSGRCh37
Build 366132,254,426 - 132,254,661RGDNCBI36
Celera6132,959,854 - 132,960,089RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,788,344 - 129,788,576UniSTS
REN29149  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,212,948 - 132,213,189UniSTSGRCh37
Build 366132,254,641 - 132,254,882RGDNCBI36
Celera6132,960,069 - 132,960,310RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,788,556 - 129,788,797UniSTS
REN29150  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,213,168 - 132,213,424UniSTSGRCh37
Build 366132,254,861 - 132,255,117RGDNCBI36
Celera6132,960,289 - 132,960,545RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,788,776 - 129,789,032UniSTS
REN29151  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,213,417 - 132,213,663UniSTSGRCh37
Build 366132,255,110 - 132,255,356RGDNCBI36
Celera6132,960,538 - 132,960,784RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,789,025 - 129,789,271UniSTS
REN29152  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,213,661 - 132,213,903UniSTSGRCh37
Build 366132,255,354 - 132,255,596RGDNCBI36
Celera6132,960,782 - 132,961,024RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,789,269 - 129,789,511UniSTS
REN29153  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,213,880 - 132,214,150UniSTSGRCh37
Build 366132,255,573 - 132,255,843RGDNCBI36
Celera6132,961,001 - 132,961,271RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,789,488 - 129,789,758UniSTS
REN29154  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,214,095 - 132,214,324UniSTSGRCh37
Build 366132,255,788 - 132,256,017RGDNCBI36
Celera6132,961,216 - 132,961,445RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,789,703 - 129,789,932UniSTS
REN29155  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,214,301 - 132,214,545UniSTSGRCh37
GRCh376132,213,750 - 132,214,545UniSTSGRCh37
Build 366132,255,994 - 132,256,238RGDNCBI36
Celera6132,960,871 - 132,961,666UniSTS
Celera6132,961,422 - 132,961,666RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,789,909 - 129,790,153UniSTS
HuRef6129,789,358 - 129,790,153UniSTS
REN29156  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,214,533 - 132,214,797UniSTSGRCh37
Build 366132,256,226 - 132,256,490RGDNCBI36
Celera6132,961,654 - 132,961,918RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,790,141 - 129,790,405UniSTS
REN29157  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,214,795 - 132,215,061UniSTSGRCh37
Build 366132,256,488 - 132,256,754RGDNCBI36
Celera6132,961,916 - 132,962,182RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,790,403 - 129,790,669UniSTS
REN29158  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,215,058 - 132,215,302UniSTSGRCh37
Build 366132,256,751 - 132,256,995RGDNCBI36
Celera6132,962,179 - 132,962,423RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,790,666 - 129,790,907UniSTS
REN29159  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,215,683 - 132,215,907UniSTSGRCh37
Build 366132,257,376 - 132,257,600RGDNCBI36
Celera6132,962,804 - 132,963,028RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,791,288 - 129,791,512UniSTS
REN29160  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,215,886 - 132,216,132UniSTSGRCh37
Build 366132,257,579 - 132,257,825RGDNCBI36
Celera6132,963,007 - 132,963,253RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,791,491 - 129,791,737UniSTS
REN29161  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,216,099 - 132,216,340UniSTSGRCh37
Build 366132,257,792 - 132,258,033RGDNCBI36
Celera6132,963,220 - 132,963,461RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,791,704 - 129,791,945UniSTS
REN29162  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,216,283 - 132,216,507UniSTSGRCh37
Build 366132,257,976 - 132,258,200RGDNCBI36
Celera6132,963,404 - 132,963,628RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,791,888 - 129,792,112UniSTS
REN29163  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,216,478 - 132,216,748UniSTSGRCh37
Build 366132,258,171 - 132,258,441RGDNCBI36
Celera6132,963,599 - 132,963,869RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,792,083 - 129,792,353UniSTS
RH46732  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,211,904 - 132,212,062UniSTSGRCh37
Build 366132,253,597 - 132,253,755RGDNCBI36
Celera6132,959,025 - 132,959,183RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,787,514 - 129,787,672UniSTS
GeneMap99-GB4 RH Map6529.82UniSTS
STS-D12485  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,212,011 - 132,212,178UniSTSGRCh37
Build 366132,253,704 - 132,253,871RGDNCBI36
Celera6132,959,132 - 132,959,299RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,787,621 - 129,787,788UniSTS
GeneMap99-GB4 RH Map6532.92UniSTS
NCBI RH Map61538.9UniSTS
SHGC-12805  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,211,838 - 132,212,179UniSTSGRCh37
Build 366132,253,531 - 132,253,872RGDNCBI36
Celera6132,958,959 - 132,959,300RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,787,448 - 129,787,789UniSTS
TNG Radiation Hybrid Map665270.0UniSTS
GeneMap99-G3 RH Map65673.0UniSTS
SHGC-57709  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,142,631 - 132,142,946UniSTSGRCh37
Build 366132,184,324 - 132,184,639RGDNCBI36
Celera6132,889,746 - 132,890,061RGD
Cytogenetic Map6q23.2UniSTS
Cytogenetic Map6q22-q23UniSTS
HuRef6129,718,214 - 129,718,529UniSTS
TNG Radiation Hybrid Map665236.0UniSTS
RH70145  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,213,535 - 132,213,761UniSTSGRCh37
Build 366132,255,228 - 132,255,454RGDNCBI36
Celera6132,960,656 - 132,960,882RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,789,143 - 129,789,369UniSTS
GeneMap99-GB4 RH Map6529.62UniSTS
stSG626306  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,176,875 - 132,177,324UniSTSGRCh37
Build 366132,218,568 - 132,219,017RGDNCBI36
Celera6132,924,000 - 132,924,449RGD
HuRef6129,752,460 - 129,752,909UniSTS
stSG626307  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,177,182 - 132,177,377UniSTSGRCh37
Build 366132,218,875 - 132,219,070RGDNCBI36
Celera6132,924,307 - 132,924,502RGD
HuRef6129,752,767 - 129,752,962UniSTS
stSG626309  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,178,991 - 132,180,236UniSTSGRCh37
Build 366132,220,684 - 132,221,929RGDNCBI36
Celera6132,926,116 - 132,927,361RGD
HuRef6129,754,576 - 129,755,821UniSTS
stSG626310  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,180,267 - 132,181,384UniSTSGRCh37
Build 366132,221,960 - 132,223,077RGDNCBI36
Celera6132,927,392 - 132,928,509RGD
HuRef6129,755,852 - 129,756,984UniSTS
stSG626311  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,181,368 - 132,182,792UniSTSGRCh37
Build 366132,223,061 - 132,224,485RGDNCBI36
Celera6132,928,493 - 132,929,917RGD
HuRef6129,756,968 - 129,758,392UniSTS
stSG626312  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,182,930 - 132,184,347UniSTSGRCh37
Build 366132,224,623 - 132,226,040RGDNCBI36
Celera6132,930,055 - 132,931,472RGD
HuRef6129,758,530 - 129,759,947UniSTS
stSG626313  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,184,498 - 132,185,616UniSTSGRCh37
Build 366132,226,191 - 132,227,309RGDNCBI36
Celera6132,931,623 - 132,932,741RGD
HuRef6129,760,098 - 129,761,216UniSTS
stSG626314  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,185,597 - 132,186,663UniSTSGRCh37
Build 366132,227,290 - 132,228,356RGDNCBI36
Celera6132,932,722 - 132,933,788RGD
HuRef6129,761,197 - 129,762,263UniSTS
stSG626315  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,186,644 - 132,187,826UniSTSGRCh37
Build 366132,228,337 - 132,229,519RGDNCBI36
Celera6132,933,769 - 132,934,951RGD
HuRef6129,762,244 - 129,763,426UniSTS
stSG626316  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,187,807 - 132,189,242UniSTSGRCh37
Build 366132,229,500 - 132,230,935RGDNCBI36
Celera6132,934,932 - 132,936,367RGD
HuRef6129,763,407 - 129,764,842UniSTS
stSG626317  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,189,223 - 132,190,612UniSTSGRCh37
Build 366132,230,916 - 132,232,305RGDNCBI36
Celera6132,936,348 - 132,937,737RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,764,823 - 129,766,212UniSTS
stSG626318  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,190,596 - 132,191,845UniSTSGRCh37
Build 366132,232,289 - 132,233,538RGDNCBI36
Celera6132,937,721 - 132,938,970RGD
HuRef6129,766,196 - 129,767,445UniSTS
stSG626319  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,191,831 - 132,192,866UniSTSGRCh37
Build 366132,233,524 - 132,234,559RGDNCBI36
Celera6132,938,956 - 132,939,991RGD
HuRef6129,767,431 - 129,768,466UniSTS
stSG626320  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,192,847 - 132,194,269UniSTSGRCh37
Build 366132,234,540 - 132,235,962RGDNCBI36
Celera6132,939,972 - 132,941,394RGD
HuRef6129,768,447 - 129,769,869UniSTS
stSG626321  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,194,250 - 132,195,457UniSTSGRCh37
Build 366132,235,943 - 132,237,150RGDNCBI36
Celera6132,941,375 - 132,942,582RGD
HuRef6129,769,850 - 129,771,057UniSTS
stSG626322  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,195,437 - 132,196,627UniSTSGRCh37
Build 366132,237,130 - 132,238,320RGDNCBI36
Celera6132,942,562 - 132,943,752RGD
HuRef6129,771,037 - 129,772,227UniSTS
stSG626323  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,196,608 - 132,197,888UniSTSGRCh37
Build 366132,238,301 - 132,239,581RGDNCBI36
Celera6132,943,733 - 132,945,013RGD
HuRef6129,772,208 - 129,773,488UniSTS
stSG626324  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,198,136 - 132,199,224UniSTSGRCh37
Build 366132,239,829 - 132,240,917RGDNCBI36
Celera6132,945,261 - 132,946,349RGD
HuRef6129,773,736 - 129,774,824UniSTS
stSG626325  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,199,202 - 132,200,397UniSTSGRCh37
Build 366132,240,895 - 132,242,090RGDNCBI36
Celera6132,946,327 - 132,947,522RGD
HuRef6129,774,802 - 129,775,997UniSTS
stSG626326  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,200,555 - 132,201,883UniSTSGRCh37
Build 366132,242,248 - 132,243,576RGDNCBI36
Celera6132,947,680 - 132,949,008RGD
stSG626327  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,202,027 - 132,203,377UniSTSGRCh37
Build 366132,243,720 - 132,245,070RGDNCBI36
Celera6132,949,152 - 132,950,502RGD
HuRef6129,777,626 - 129,778,980UniSTS
stSG626329  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,204,691 - 132,206,146UniSTSGRCh37
Build 366132,246,384 - 132,247,839RGDNCBI36
Celera6132,951,810 - 132,953,265RGD
HuRef6129,780,287 - 129,781,742UniSTS
stSG626330  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,206,138 - 132,207,326UniSTSGRCh37
Build 366132,247,831 - 132,249,019RGDNCBI36
Celera6132,953,257 - 132,954,445RGD
HuRef6129,781,734 - 129,782,922UniSTS
stSG626331  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,207,307 - 132,208,444UniSTSGRCh37
Build 366132,249,000 - 132,250,137RGDNCBI36
Celera6132,954,426 - 132,955,563RGD
HuRef6129,782,903 - 129,784,047UniSTS
stSG626332  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,208,429 - 132,209,927UniSTSGRCh37
Build 366132,250,122 - 132,251,620RGDNCBI36
Celera6132,955,548 - 132,957,048RGD
HuRef6129,784,032 - 129,785,537UniSTS
stSG626333  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,209,908 - 132,211,284UniSTSGRCh37
Build 366132,251,601 - 132,252,977RGDNCBI36
Celera6132,957,029 - 132,958,405RGD
HuRef6129,785,518 - 129,786,894UniSTS
stSG626334  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,211,403 - 132,212,480UniSTSGRCh37
Build 366132,253,096 - 132,254,173RGDNCBI36
Celera6132,958,524 - 132,959,601RGD
HuRef6129,787,013 - 129,788,091UniSTS
stSG626335  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,211,808 - 132,212,817UniSTSGRCh37
Build 366132,253,501 - 132,254,510RGDNCBI36
Celera6132,958,929 - 132,959,938RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,787,418 - 129,788,428UniSTS
stSG626336  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,214,302 - 132,215,425UniSTSGRCh37
GRCh376132,213,751 - 132,215,425UniSTSGRCh37
Build 366132,255,995 - 132,257,118RGDNCBI36
Celera6132,960,872 - 132,962,546UniSTS
Celera6132,961,423 - 132,962,546RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6129,789,910 - 129,791,030UniSTS
HuRef6129,789,359 - 129,791,030UniSTS
stSG626337  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376132,215,410 - 132,216,781UniSTSGRCh37
Build 366132,257,103 - 132,258,474RGDNCBI36
Celera6132,962,531 - 132,963,902RGD
HuRef6129,791,015 - 129,792,386UniSTS
GDB:434012  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2q31.2-q33.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5q21UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map1p21.3-p13.1UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map10p11.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map4p16UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map14q31UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2438 2788 2248 4967 1726 2351 6 624 1502 465 2266 6857 6026 53 3731 1 850 1741 1617 173 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB032016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF067177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF067178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF100343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF100344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF100345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF100924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH009148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ242019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ242020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ242021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ242022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ242023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ242024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ242025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ242026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ242027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ242028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ242029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ242030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ242031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ242032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ242033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ242034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ242035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ242036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ242037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ242038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ242039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ242040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ242041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ242042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ242043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ242044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL117378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC059375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D12485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC768831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC768832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC768833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC768834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC768835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC768836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC768837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC768838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC768839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC768840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC768841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC768842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC768843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M57736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OQ569911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OQ569912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000459624
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6131,861,610 - 131,877,857 (+)Ensembl
Ensembl Acc Id: ENST00000486853
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6131,808,016 - 131,851,423 (+)Ensembl
Ensembl Acc Id: ENST00000513998   ⟹   ENSP00000422424
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6131,808,034 - 131,890,864 (+)Ensembl
Ensembl Acc Id: ENST00000647893   ⟹   ENSP00000498074
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6131,808,020 - 131,895,155 (+)Ensembl
Ensembl Acc Id: ENST00000647981
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6131,868,037 - 131,880,287 (+)Ensembl
Ensembl Acc Id: ENST00000650147   ⟹   ENSP00000497519
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6131,849,999 - 131,866,009 (+)Ensembl
Ensembl Acc Id: ENST00000650437   ⟹   ENSP00000497981
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6131,849,999 - 131,877,867 (+)Ensembl
Ensembl Acc Id: ENST00000650507   ⟹   ENSP00000497375
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6131,808,123 - 131,850,081 (+)Ensembl
Ensembl Acc Id: ENST00000683687
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6131,875,269 - 131,877,388 (+)Ensembl
Ensembl Acc Id: ENST00000684147
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6131,844,463 - 131,847,778 (+)Ensembl
Ensembl Acc Id: ENST00000684536
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6131,874,205 - 131,877,699 (+)Ensembl
Ensembl Acc Id: ENST00000684674
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6131,879,504 - 131,890,979 (+)Ensembl
RefSeq Acc Id: NM_006208   ⟹   NP_006199
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386131,808,020 - 131,895,155 (+)NCBI
GRCh376132,129,156 - 132,216,295 (+)ENTREZGENE
GRCh376132,129,156 - 132,216,295 (+)NCBI
Build 366132,170,853 - 132,254,043 (+)NCBI Archive
HuRef6129,704,724 - 129,791,900 (+)ENTREZGENE
CHM1_16132,392,926 - 132,480,050 (+)NCBI
T2T-CHM13v2.06133,002,962 - 133,090,181 (+)NCBI
Sequence:
RefSeq Acc Id: NP_006199   ⟸   NM_006208
- UniProtKB: Q9UP61 (UniProtKB/Swiss-Prot),   Q9P1P6 (UniProtKB/Swiss-Prot),   Q9NPZ3 (UniProtKB/Swiss-Prot),   Q5T9R6 (UniProtKB/Swiss-Prot),   Q9Y6K3 (UniProtKB/Swiss-Prot),   P22413 (UniProtKB/Swiss-Prot),   B2RBY8 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000497375   ⟸   ENST00000650507
Ensembl Acc Id: ENSP00000497981   ⟸   ENST00000650437
Ensembl Acc Id: ENSP00000497519   ⟸   ENST00000650147
Ensembl Acc Id: ENSP00000422424   ⟸   ENST00000513998
Ensembl Acc Id: ENSP00000498074   ⟸   ENST00000647893
Protein Domains
SMB

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P22413-F1-model_v2 AlphaFold P22413 1-925 view protein structure

Promoters
RGD ID:7209163
Promoter ID:EPDNEW_H10327
Type:multiple initiation site
Name:ENPP1_1
Description:ectonucleotide pyrophosphatase/phosphodiesterase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386131,808,020 - 131,808,080EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3356 AgrOrtholog
COSMIC ENPP1 COSMIC
Ensembl Genes ENSG00000197594 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000647893 ENTREZGENE
  ENST00000647893.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.570.10 UniProtKB/Swiss-Prot
  3.40.720.10 UniProtKB/Swiss-Prot
  4.10.410.20 UniProtKB/Swiss-Prot
GTEx ENSG00000197594 GTEx
HGNC ID HGNC:3356 ENTREZGENE
Human Proteome Map ENPP1 Human Proteome Map
InterPro Alkaline_phosphatase_core_sf UniProtKB/Swiss-Prot
  DNA/RNA_non-sp_Endonuclease UniProtKB/Swiss-Prot
  DNA/RNA_non-sp_Endonuclease_sf UniProtKB/Swiss-Prot
  Extracellular_endonuc_su_A UniProtKB/Swiss-Prot
  His-Me_finger_sf UniProtKB/Swiss-Prot
  Phosphodiest/P_Trfase UniProtKB/Swiss-Prot
  Somatomedin_B-like_dom_sf UniProtKB/Swiss-Prot
  Somatomedin_B_chordata UniProtKB/Swiss-Prot
  Somatomedin_B_dom UniProtKB/Swiss-Prot
KEGG Report hsa:5167 UniProtKB/Swiss-Prot
NCBI Gene 5167 ENTREZGENE
OMIM 173335 OMIM
PANTHER ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE UniProtKB/Swiss-Prot
  PTHR10151:SF77 UniProtKB/Swiss-Prot
Pfam Endonuclease_NS UniProtKB/Swiss-Prot
  Phosphodiest UniProtKB/Swiss-Prot
  Somatomedin_B UniProtKB/Swiss-Prot
PharmGKB PA27791 PharmGKB
PRINTS SOMATOMEDINB UniProtKB/Swiss-Prot
PROSITE SMB_1 UniProtKB/Swiss-Prot
  SMB_2 UniProtKB/Swiss-Prot
SMART Endonuclease_NS UniProtKB/Swiss-Prot
  NUC UniProtKB/Swiss-Prot
  SM00201 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF53649 UniProtKB/Swiss-Prot
  SSF54060 UniProtKB/Swiss-Prot
  SSF90188 UniProtKB/Swiss-Prot
UniProt A0A3B3ISN7_HUMAN UniProtKB/TrEMBL
  A0A3B3IST7_HUMAN UniProtKB/TrEMBL
  A0A3B3IU14_HUMAN UniProtKB/TrEMBL
  B2RBY8 ENTREZGENE, UniProtKB/TrEMBL
  E9PE72_HUMAN UniProtKB/TrEMBL
  ENPP1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5T9R6 ENTREZGENE
  Q9NPZ3 ENTREZGENE
  Q9P1P6 ENTREZGENE
  Q9UP61 ENTREZGENE
  Q9Y6K3 ENTREZGENE
UniProt Secondary Q5T9R6 UniProtKB/Swiss-Prot
  Q9NPZ3 UniProtKB/Swiss-Prot
  Q9P1P6 UniProtKB/Swiss-Prot
  Q9UP61 UniProtKB/Swiss-Prot
  Q9Y6K3 UniProtKB/Swiss-Prot