L1CAM (L1 cell adhesion molecule) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: L1CAM (L1 cell adhesion molecule) Homo sapiens
Analyze
Symbol: L1CAM
Name: L1 cell adhesion molecule
RGD ID: 1352608
HGNC Page HGNC:6470
Description: Enables protein domain specific binding activity. Involved in several processes, including axon guidance; cell-matrix adhesion; and synapse organization. Located in several cellular components, including axon; cell surface; and neuronal cell body. Implicated in MASA syndrome; hydrocephalus; ovarian carcinoma; pancreatic cancer; and schizophrenia. Biomarker of several diseases, including bipolar disorder; carcinoma (multiple); colorectal cancer; glioblastoma; and pheochromocytoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: antigen identified by monoclonal antibody R1; CAML1; CD171; HSAS; HSAS1; HYCX; MASA; MIC5; N-CAM-L1; N-CAML1; NCAM-L1; neural cell adhesion molecule L1; S10; SPG1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X153,861,514 - 153,886,173 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX153,861,514 - 153,886,173 (-)EnsemblGRCh38hg38GRCh38
GRCh37X153,126,969 - 153,151,627 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X152,780,581 - 152,794,505 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X152,648,233 - 152,662,158NCBI
CeleraX153,360,655 - 153,375,083 (-)NCBICelera
Cytogenetic MapXq28NCBI
HuRefX141,783,485 - 141,798,078 (-)NCBIHuRef
CHM1_1X153,001,369 - 153,026,043 (-)NCBICHM1_1
T2T-CHM13v2.0X152,135,195 - 152,159,857 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
adrenoleukodystrophy  (IAGP)
Alzheimer's disease  (IEP)
anxiety disorder  (ISO)
aphasia  (EXP)
autistic disorder  (IAGP,ISO)
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23  (IAGP)
Barth syndrome  (IAGP)
bipolar disorder  (IEP)
cerebellar ataxia  (IAGP)
cerebellar hypoplasia  (IAGP)
cerebral creatine deficiency syndrome 1  (IAGP)
colorectal cancer  (IEP)
Congenital Hand Deformities  (EXP)
depressive disorder  (ISO)
Developmental Disabilities  (IAGP)
dyskeratosis congenita  (IAGP)
Emery-Dreifuss muscular dystrophy  (IAGP)
favism  (IAGP)
genetic disease  (IAGP)
glioblastoma  (IEP)
hereditary spastic paraplegia  (IAGP)
Hirschsprung's disease  (IAGP,ISO)
Huntington's disease  (ISO)
hydrocephalus  (IAGP)
hypothyroidism  (ISO)
immunodeficiency 33  (IAGP)
intellectual disability  (IAGP)
lung non-small cell carcinoma  (IEP)
MASA syndrome  (EXP,IAGP,ISS)
Neoplasm Metastasis  (IMP)
Neurologic Gait Disorders  (EXP)
ovarian carcinoma  (IEP,IMP)
pancreatic cancer  (IMP)
pancreatic ductal carcinoma  (IEP)
paraplegia  (IAGP)
Parkinson's disease  (ISO)
Partial Agenesis of Corpus Callosum, X-Linked  (EXP,IAGP)
Peripheral Nerve Injuries  (ISO)
periventricular nodular heterotopia  (IAGP)
pheochromocytoma  (IEP)
Posthemorrhagic Hydrocephalus  (IEP)
renal cell carcinoma  (EXP)
schizophrenia  (IAGP)
severe congenital encephalopathy due to MECP2 mutation  (IAGP)
Spinal Cord Compression  (ISO)
Splenomegaly  (IAGP)
syndromic X-linked intellectual disability Lubs type  (IAGP)
uterine cancer  (IEP)
X-Linked Hydrocephalus  (EXP,IAGP,ISO)
X-Linked Hydrocephalus, with Congenital Idiopathic Intestinal Pseudoobstruction  (IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP,ISO)
Altertoxin II  (EXP)
amphetamine  (ISO)
antimycin A  (EXP)
aristolochic acid A  (EXP)
arsenite(3-)  (EXP,ISO)
atrazine  (EXP,ISO)
azoxystrobin  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
butanal  (EXP)
Butylbenzyl phthalate  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
captan  (ISO)
carbamazepine  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
cisplatin  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
coumestrol  (EXP)
cyclosporin A  (EXP)
deguelin  (EXP)
dextran sulfate  (ISO)
diallyl trisulfide  (EXP)
dibutyl phthalate  (ISO)
diethyl phthalate  (ISO)
diisobutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
dioxygen  (EXP)
dorsomorphin  (EXP)
endosulfan  (ISO)
Enterolactone  (EXP)
entinostat  (EXP)
epoxiconazole  (ISO)
ethanol  (EXP,ISO)
fluoxetine  (ISO)
folic acid  (ISO)
FR900359  (EXP)
fulvestrant  (EXP)
genistein  (EXP)
iron dichloride  (EXP)
ivermectin  (EXP)
L-methionine  (ISO)
Mesaconitine  (ISO)
methanol  (EXP)
methylmercury chloride  (EXP)
mitomycin C  (EXP)
nitrofen  (ISO)
Ondansetron  (ISO)
panobinostat  (EXP)
paracetamol  (EXP)
pentanal  (EXP)
phenylmercury acetate  (EXP)
picoxystrobin  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
progesterone  (EXP)
propanal  (EXP)
pyrimidifen  (EXP)
resveratrol  (EXP)
saracatinib  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP,ISO)
sirolimus  (EXP)
sodium arsenite  (EXP,ISO)
tebufenpyrad  (EXP)
thifluzamide  (EXP)
titanium dioxide  (ISO)
toluene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
Triptolide  (ISO)
triptonide  (ISO)
trovafloxacin  (ISO)
valproic acid  (EXP)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
axon development  (IDA)
axon guidance  (IDA,IEA,ISO)
axonal fasciculation  (ISO)
brain development  (IEA)
calcium-mediated signaling  (ISO)
cell adhesion  (IEA,NAS)
cell differentiation  (IEA)
cell migration  (IDA)
cell surface receptor signaling pathway  (ISO)
cell-cell adhesion mediated by integrin  (ISO)
cell-matrix adhesion  (IDA)
cellular response to dexamethasone stimulus  (ISO)
cellular response to ethanol  (ISO)
cellular response to nerve growth factor stimulus  (ISO)
cellular response to thyroxine stimulus  (ISO)
cellular response to transforming growth factor beta stimulus  (ISO)
cerebellar neuron development  (ISO)
chemotaxis  (TAS)
dopaminergic neuron differentiation  (ISO)
heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules  (ISO)
homophilic cell adhesion via plasma membrane adhesion molecules  (IBA,IEA,ISO)
homotypic cell-cell adhesion  (ISO)
leukocyte cell-cell adhesion  (ISO)
modulation of chemical synaptic transmission  (ISO)
nervous system development  (IEA,TAS)
neuron differentiation  (ISO)
neuron projection development  (IDA,ISO)
positive regulation of axon extension  (ISS)
positive regulation of calcium-mediated signaling  (ISO)
positive regulation of cell-cell adhesion  (ISO)
positive regulation of cell-substrate adhesion  (ISO)
protein localization to plasma membrane raft  (ISO)
regulation of ERK1 and ERK2 cascade  (ISO)
regulation of neuron projection development  (ISO)
regulation of protein phosphorylation  (ISO)
response to activity  (ISO)
response to thyroid hormone  (ISO)
response to toluene  (ISO)
synapse organization  (IBA,IDA,IEA)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormality of speech or vocalization  (IAGP)
Absent septum pellucidum  (IAGP)
Adducted thumb  (IAGP)
Aganglionic megacolon  (IAGP)
Agenesis of corpus callosum  (IAGP)
Aphasia  (IAGP)
Aqueductal stenosis  (IAGP)
Ataxia  (IAGP)
Autism  (IAGP)
Camptodactyly of finger  (IAGP)
Cerebellar hypoplasia  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Coarse facial features  (IAGP)
Cognitive impairment  (IAGP)
Corticospinal tract hypoplasia  (IAGP)
Decreased circulating antibody level  (IAGP)
Delayed speech and language development  (IAGP)
Dislocated radial head  (IAGP)
Gait disturbance  (IAGP)
Global developmental delay  (IAGP)
Hand clenching  (IAGP)
Hemiplegia/hemiparesis  (IAGP)
High palate  (IAGP)
Holoprosencephaly  (IAGP)
Hydrocephalus  (IAGP)
Hydrops fetalis  (IAGP)
Hyperlordosis  (IAGP)
Hyperreflexia  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Increased intracranial pressure  (IAGP)
Inferior cerebellar vermis hypoplasia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, moderate  (IAGP)
Intellectual disability, severe  (IAGP)
Interhemispheric cyst  (IAGP)
Joint stiffness  (IAGP)
Kyphosis  (IAGP)
Lower limb muscle weakness  (IAGP)
Lower limb spasticity  (IAGP)
Macrocephaly  (IAGP)
Mental deterioration  (IAGP)
Microcephaly  (IAGP)
Muscle weakness  (IAGP)
Nystagmus  (IAGP)
Paraplegia  (IAGP)
Partial agenesis of the corpus callosum  (IAGP)
Pes cavus  (IAGP)
Pes planus  (IAGP)
Second trimester onset  (IAGP)
Seizure  (IAGP)
Severe hydrocephalus  (IAGP)
Short stature  (IAGP)
Shuffling gait  (IAGP)
Spastic paraplegia  (IAGP)
Spasticity  (IAGP)
Splenomegaly  (IAGP)
Strabismus  (IAGP)
Talipes equinovarus  (IAGP)
Thumb contracture  (IAGP)
Upper motor neuron dysfunction  (IAGP)
Ventriculomegaly  (IAGP)
X-linked recessive inheritance  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Regulation of the L1 cell adhesion molecule by thyroid hormone in the developing brain. Alvarez-Dolado M, etal., Mol Cell Neurosci. 2000 Oct;16(4):499-514.
2. Efficient inhibition of intra-peritoneal tumor growth and dissemination of human ovarian carcinoma cells in nude mice by anti-L1-cell adhesion molecule monoclonal antibody treatment. Arlt MJ, etal., Cancer Res. 2006 Jan 15;66(2):936-43.
3. Positive expression of L1-CAM is associated with perineural invasion and poor outcome in pancreatic ductal adenocarcinoma. Ben QW, etal., Ann Surg Oncol. 2010 Aug;17(8):2213-21. Epub 2010 Feb 17.
4. Neural cell adhesion molecule L1-transfected embryonic stem cells promote functional recovery after excitotoxic lesion of the mouse striatum. Bernreuther C, etal., J Neurosci. 2006 Nov 8;26(45):11532-9.
5. Embryonic stem cell-derived L1 overexpressing neural aggregates enhance recovery in Parkinsonian mice. Cui YF, etal., Brain. 2010 Jan;133(Pt 1):189-204. Epub 2009 Dec 7.
6. A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS). Du YZ, etal., J Med Genet. 1998 Jun;35(6):456-62.
7. Characterization of a novel rat model of X-linked hydrocephalus by CRISPR-mediated mutation in L1cam. Emmert AS, etal., J Neurosurg. 2019 Feb 8:1-14. doi: 10.3171/2018.10.JNS181015.
8. L1 expression as a predictor of progression and survival in patients with uterine and ovarian carcinomas. Fogel M, etal., Lancet. 2003 Sep 13;362(9387):869-75.
9. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
10. Adhesion molecule L1 overexpressed under the control of the neuronal Thy-1 promoter improves myelination after peripheral nerve injury in adult mice. Guseva D, etal., Exp Neurol. 2011 Jun;229(2):339-52. Epub 2011 Mar 2.
11. L1 cell adhesion molecule promotes tumorigenicity and metastatic potential in non-small cell lung cancer. Hai J, etal., Clin Cancer Res. 2012 Apr 1;18(7):1914-24. doi: 10.1158/1078-0432.CCR-11-2893. Epub 2012 Feb 3.
12. Antidepressant-like effects of 3,6'-disinapoyl sucrose on hippocampal neuronal plasticity and neurotrophic signal pathway in chronically mild stressed rats. Hu Y, etal., Neurochem Int. 2010 Feb;56(3):461-5. Epub 2009 Dec 14.
13. X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. Jouet M, etal., Nat Genet. 1994 Jul;7(3):402-7.
14. L1 is associated with micrometastatic spread and poor outcome in colorectal cancer. Kaifi JT, etal., Mod Pathol. 2007 Nov;20(11):1183-90. Epub 2007 Sep 14.
15. An association study between polymorphism of L1CAM gene and schizophrenia in a Japanese sample. Kurumaji A, etal., Am J Med Genet. 2001 Jan 8;105(1):99-104.
16. Massively parallel signature sequencing and bioinformatics analysis identifies up-regulation of TGFBI and SOX4 in human glioblastoma. Lin B, etal., PLoS One. 2010 Apr 19;5(4):e10210.
17. Pheochromocytoma in rats with multiple endocrine neoplasia (MENX) shares gene expression patterns with human pheochromocytoma. Molatore S, etal., Proc Natl Acad Sci U S A. 2010 Oct 26;107(43):18493-8. doi: 10.1073/pnas.1003956107. Epub 2010 Oct 11.
18. Alterations in protein regulators of neurodevelopment in the cerebrospinal fluid of infants with post-hemorrhagic hydrocephalus of prematurity. Morales DM, etal., Mol Cell Proteomics. 2011 Dec 20.
19. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
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. Heterozygous L1-deficient mice express an autism-like phenotype. Sauce B, etal., Behav Brain Res. 2015 Oct 1;292:432-42. doi: 10.1016/j.bbr.2015.05.040. Epub 2015 Jun 14.
24. Myofibroblast-induced tumorigenicity of pancreatic ductal epithelial cells is L1CAM dependent. Schafer H, etal., Carcinogenesis. 2012 Jan;33(1):84-93. doi: 10.1093/carcin/bgr262. Epub 2011 Nov 17.
25. TGF-beta1-dependent L1CAM expression has an essential role in macrophage-induced apoptosis resistance and cell migration of human intestinal epithelial cells. Schafer H, etal., Oncogene. 2012 Feb 20. doi: 10.1038/onc.2012.44.
26. Elevated levels of neural recognition molecule L1 in the cerebrospinal fluid of patients with Alzheimer disease and other dementia syndromes. Strekalova H, etal., Neurobiol Aging. 2006 Jan;27(1):1-9.
27. A deletion of five nucleotides in the L1CAM gene in a Japanese family with X-linked hydrocephalus. Takechi T, etal., Hum Genet. 1996 Mar;97(3):353-6.
28. A modifier locus on chromosome 5 contributes to L1 cell adhesion molecule X-linked hydrocephalus in mice. Tapanes-Castillo A, etal., Neurogenetics. 2010 Feb;11(1):53-71. Epub 2009 Jun 30.
29. Neurotrophins 3 and 4 differentially regulate NCAM, L1 and N-cadherin expression during peripheral nerve regeneration. Thornton MR, etal., Biotechnol Appl Biochem. 2008 Feb;49(Pt 2):165-74.
30. "Juvenile stress" alters maturation-related changes in expression of the neural cell adhesion molecule L1 in the limbic system: relevance for stress-related psychopathologies. Tsoory MM, etal., J Neurosci Res. 2010 Feb 1;88(2):369-80.
31. MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM. Vits L, etal., Nat Genet. 1994 Jul;7(3):408-13.
32. State-dependent changes in the expression levels of NCAM-140 and L1 in the peripheral blood cells of bipolar disorders, but not in the major depressive disorders. Wakabayashi Y, etal., Prog Neuropsychopharmacol Biol Psychiatry. 2008 Jul 1;32(5):1199-205. Epub 2008 Mar 15.
33. L1cam acts as a modifier gene for members of the endothelin signalling pathway during enteric nervous system development. Wallace AS, etal., Neurogastroenterol Motil. 2011 Nov;23(11):e510-22. doi: 10.1111/j.1365-2982.2011.01692.x. Epub 2011 Mar 14.
34. Toluene disruption of the functions of L1 cell adhesion molecule at concentrations associated with occupational exposures. White KM, etal., Pediatr Res. 2016 Jul;80(1):145-50. doi: 10.1038/pr.2016.40. Epub 2016 Mar 8.
35. Transplanted L1 expressing radial glia and astrocytes enhance recovery after spinal cord injury. Xu JC, etal., J Neurotrauma. 2011 Sep;28(9):1921-37. Epub 2011 Aug 31.
Additional References at PubMed
PMID:1303258   PMID:1627459   PMID:1769655   PMID:1870106   PMID:1923824   PMID:1932117   PMID:1993895   PMID:2387585   PMID:3136168   PMID:7513709   PMID:7562969   PMID:7595520  
PMID:7762552   PMID:7881431   PMID:8401576   PMID:8509458   PMID:8556302   PMID:8592152   PMID:8663493   PMID:8898967   PMID:8929944   PMID:8947027   PMID:8956051   PMID:9118141  
PMID:9195224   PMID:9268105   PMID:9300653   PMID:9479034   PMID:9521424   PMID:9570805   PMID:9744477   PMID:9832035   PMID:9832558   PMID:9837910   PMID:10495434   PMID:10611478  
PMID:10797421   PMID:10805190   PMID:10871287   PMID:10934197   PMID:11222639   PMID:11393533   PMID:11438988   PMID:11770884   PMID:11857550   PMID:11897831   PMID:12070130   PMID:12082080  
PMID:12139915   PMID:12435569   PMID:12477932   PMID:12490317   PMID:12524354   PMID:12558975   PMID:12725590   PMID:12777533   PMID:12942088   PMID:12957823   PMID:14657231   PMID:14718570  
PMID:15128735   PMID:15146195   PMID:15148591   PMID:15368500   PMID:15489334   PMID:15609076   PMID:15647482   PMID:15716380   PMID:15772651   PMID:15790807   PMID:15820228   PMID:16000162  
PMID:16020776   PMID:16169070   PMID:16229685   PMID:16335952   PMID:16344560   PMID:16377081   PMID:16400320   PMID:16401420   PMID:16506207   PMID:16650080   PMID:16650578   PMID:16816908  
PMID:17081983   PMID:17211730   PMID:17294222   PMID:17328266   PMID:17420921   PMID:17699774   PMID:17952127   PMID:18059459   PMID:18090124   PMID:18222703   PMID:18321067   PMID:18332088  
PMID:18386459   PMID:18483249   PMID:18555990   PMID:18676824   PMID:18701456   PMID:18847309   PMID:18931829   PMID:18972120   PMID:19018795   PMID:19086053   PMID:19165527   PMID:19260824  
PMID:19273627   PMID:19343046   PMID:19401151   PMID:19414364   PMID:19435915   PMID:19523119   PMID:19581412   PMID:19617634   PMID:19639167   PMID:19641926   PMID:19661372   PMID:19720049  
PMID:19787228   PMID:19846429   PMID:19909241   PMID:19913121   PMID:19920102   PMID:20237819   PMID:20301612   PMID:20301657   PMID:20301682   PMID:20447653   PMID:20501614   PMID:20501702  
PMID:20576928   PMID:20621658   PMID:20628086   PMID:20799950   PMID:20811670   PMID:20940017   PMID:21094640   PMID:21097529   PMID:21123622   PMID:21195422   PMID:21195665   PMID:21271669  
PMID:21318226   PMID:21367865   PMID:21423176   PMID:21496863   PMID:21541352   PMID:21600041   PMID:21685041   PMID:21688291   PMID:21873635   PMID:21884209   PMID:21957033   PMID:21985405  
PMID:22088438   PMID:22176577   PMID:22222883   PMID:22228447   PMID:22246010   PMID:22248567   PMID:22268729   PMID:22305014   PMID:22344793   PMID:22354677   PMID:22370595   PMID:22472175  
PMID:22544341   PMID:22554690   PMID:22579729   PMID:22648184   PMID:22677742   PMID:22711166   PMID:22718627   PMID:22764136   PMID:22796939   PMID:22815787   PMID:22846990   PMID:22859744  
PMID:22869145   PMID:22888955   PMID:22904263   PMID:22911547   PMID:22948185   PMID:22973895   PMID:22983139   PMID:23048039   PMID:23212305   PMID:23267165   PMID:23399902   PMID:23530769  
PMID:23781004   PMID:23820807   PMID:24002299   PMID:24046108   PMID:24140408   PMID:24155914   PMID:24166603   PMID:24422715   PMID:24497324   PMID:24746181   PMID:24914828   PMID:25126672  
PMID:25149066   PMID:25315821   PMID:25445362   PMID:25510351   PMID:25666757   PMID:25860483   PMID:25921289   PMID:25934484   PMID:25948108   PMID:26186194   PMID:26399194   PMID:26464672  
PMID:26478212   PMID:26743472   PMID:26761817   PMID:26861585   PMID:26891472   PMID:26933044   PMID:27028855   PMID:27165065   PMID:27174921   PMID:27207492   PMID:27233077   PMID:27267927  
PMID:27342126   PMID:27390347   PMID:27432152   PMID:27488577   PMID:27505134   PMID:27544757   PMID:27559042   PMID:27641335   PMID:27695947   PMID:27749842   PMID:27833079   PMID:27867005  
PMID:27876874   PMID:28026654   PMID:28061460   PMID:28181176   PMID:28514442   PMID:28535665   PMID:28939985   PMID:28941294   PMID:29050935   PMID:29117863   PMID:29180619   PMID:29432466  
PMID:29483251   PMID:29507755   PMID:29551399   PMID:29791485   PMID:29980240   PMID:30050154   PMID:30140948   PMID:30171263   PMID:30251576   PMID:30365056   PMID:30591489   PMID:30631154  
PMID:30829570   PMID:30842511   PMID:31030434   PMID:31421150   PMID:31426278   PMID:31504653   PMID:31510944   PMID:31532272   PMID:31754264   PMID:31756056   PMID:32236821   PMID:32291413  
PMID:32356487   PMID:32366597   PMID:32404617   PMID:32509846   PMID:32572027   PMID:32656539   PMID:33144569   PMID:33167483   PMID:33196764   PMID:33545068   PMID:33754922   PMID:33787629  
PMID:33818537   PMID:33872388   PMID:33897875   PMID:33961781   PMID:34022682   PMID:34078883   PMID:34092791   PMID:34228897   PMID:34510796   PMID:34645505   PMID:35048633   PMID:35525225  
PMID:35696571   PMID:35748872   PMID:35776035   PMID:35791503   PMID:36111928   PMID:36215168   PMID:36251972   PMID:36509990   PMID:36674445   PMID:36708044   PMID:36825596   PMID:36852510  
PMID:37116166   PMID:37221223   PMID:37286800   PMID:37478615   PMID:37489051   PMID:37652517   PMID:37686224   PMID:38139155   PMID:38263290  


Genomics

Comparative Map Data
L1CAM
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X153,861,514 - 153,886,173 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX153,861,514 - 153,886,173 (-)EnsemblGRCh38hg38GRCh38
GRCh37X153,126,969 - 153,151,627 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X152,780,581 - 152,794,505 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X152,648,233 - 152,662,158NCBI
CeleraX153,360,655 - 153,375,083 (-)NCBICelera
Cytogenetic MapXq28NCBI
HuRefX141,783,485 - 141,798,078 (-)NCBIHuRef
CHM1_1X153,001,369 - 153,026,043 (-)NCBICHM1_1
T2T-CHM13v2.0X152,135,195 - 152,159,857 (-)NCBIT2T-CHM13v2.0
L1cam
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X72,897,384 - 72,924,843 (-)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX72,897,384 - 72,939,711 (-)EnsemblGRCm39 Ensembl
GRCm38X73,853,778 - 73,880,838 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX73,853,778 - 73,896,105 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X71,099,119 - 71,126,173 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X70,107,755 - 70,122,524 (-)NCBIMGSCv36mm8
CeleraX65,106,167 - 65,133,066 (-)NCBICelera
Cytogenetic MapXA7.3NCBI
cM MapX37.43NCBI
L1cam
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X156,748,597 - 156,775,116 (-)NCBIGRCr8
mRatBN7.2X151,597,270 - 151,623,776 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX151,597,277 - 151,623,857 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX153,738,430 - 153,754,814 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X157,301,656 - 157,318,040 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X154,973,488 - 154,989,873 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X156,901,244 - 156,928,064 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX156,909,913 - 156,928,057 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01152,649,353 - 152,676,124 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X159,784,792 - 159,801,553 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1136,279,868 - 136,293,057 (+)NCBICelera
Cytogenetic MapXq37NCBI
L1cam
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955580549,368 - 561,486 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955580548,442 - 561,580 (-)NCBIChiLan1.0ChiLan1.0
L1CAM
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X153,902,285 - 153,927,077 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X153,905,891 - 153,930,683 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X143,412,303 - 143,437,090 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X153,298,690 - 153,324,228 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX153,298,690 - 153,324,228 (-)Ensemblpanpan1.1panPan2
L1CAM
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X121,708,695 - 121,722,819 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX121,708,894 - 121,733,365 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX107,037,463 - 107,051,578 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X124,849,997 - 124,864,112 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX124,850,009 - 124,874,639 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X120,619,271 - 120,633,384 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X123,134,526 - 123,148,641 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X122,895,999 - 122,910,117 (-)NCBIUU_Cfam_GSD_1.0
L1cam
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X118,998,614 - 119,024,196 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936809736,319 - 761,973 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936809736,385 - 768,822 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
L1CAM
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX124,595,651 - 124,618,307 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X124,595,649 - 124,618,292 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X142,160,416 - 142,182,924 (-)NCBISscrofa10.2Sscrofa10.2susScr3
L1CAM
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X128,285,128 - 128,309,173 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX128,285,130 - 128,299,570 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606566,154,181 - 66,179,381 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
L1cam
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624946513,297 - 525,009 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624946512,413 - 533,669 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in L1CAM
624 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001278116.2(L1CAM):c.1267C>T (p.Gln423Ter) single nucleotide variant Spastic paraplegia [RCV000792269]|not provided [RCV000520443] ChrX:153869520 [GRCh38]
ChrX:153134975 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.1780del (p.Ser594fs) deletion not provided [RCV000523553] ChrX:153868046 [GRCh38]
ChrX:153133501 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.984C>T (p.Thr328=) single nucleotide variant Inborn genetic diseases [RCV002384067]|Spastic paraplegia [RCV000556944]|not provided [RCV000996048]|not specified [RCV000731960] ChrX:153870063 [GRCh38]
ChrX:153135518 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001278116.2(L1CAM):c.3458-1G>C single nucleotide variant X-linked hydrocephalus syndrome [RCV000022879] ChrX:153863550 [GRCh38]
ChrX:153129005 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.3770A>G (p.Glu1257Gly) single nucleotide variant Spastic paraplegia [RCV000545618] ChrX:153862667 [GRCh38]
ChrX:153128122 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.3457+18C>T single nucleotide variant Spastic paraplegia [RCV000552594]|not provided [RCV001613343] ChrX:153863865 [GRCh38]
ChrX:153129320 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.3201T>G (p.Tyr1067Ter) single nucleotide variant not provided [RCV000727583] ChrX:153864443 [GRCh38]
ChrX:153129898 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.400G>A (p.Gly134Ser) single nucleotide variant not specified [RCV000519281] ChrX:153872152 [GRCh38]
ChrX:153137607 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1983del (p.Lys661fs) deletion not provided [RCV000519174] ChrX:153867510 [GRCh38]
ChrX:153132965 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.2432-19A>C single nucleotide variant X-linked hydrocephalus syndrome [RCV000010666] ChrX:153865838 [GRCh38]
ChrX:153131293 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.791G>A (p.Cys264Tyr) single nucleotide variant X-linked hydrocephalus syndrome [RCV000010667] ChrX:153870403 [GRCh38]
ChrX:153135858 [GRCh37]
ChrX:Xq28
pathogenic
L1CAM, 1.3-KB DUP duplication X-linked hydrocephalus syndrome [RCV000010668] ChrX:Xq28 pathogenic
NM_001278116.2(L1CAM):c.630C>A (p.His210Gln) single nucleotide variant MASA syndrome [RCV000010669] ChrX:153870854 [GRCh38]
ChrX:153136309 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.1792G>A (p.Asp598Asn) single nucleotide variant MASA syndrome [RCV000010670] ChrX:153868034 [GRCh38]
ChrX:153133489 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.1354G>A (p.Gly452Arg) single nucleotide variant Hydrocephalus due to aqueductal stenosis [RCV000503947]|L1 syndrome [RCV001553633]|Spastic paraplegia [RCV000685761]|X-linked hydrocephalus syndrome [RCV000010671]|not provided [RCV000254986] ChrX:153868866 [GRCh38]
ChrX:153134321 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.551G>A (p.Arg184Gln) single nucleotide variant Inborn genetic diseases [RCV002345239]|L1 syndrome [RCV001824565]|X-linked hydrocephalus syndrome [RCV000010672] ChrX:153870933 [GRCh38]
ChrX:153136388 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.3489_3490del (p.Glu1164fs) deletion MASA syndrome [RCV000010673] ChrX:153863517..153863518 [GRCh38]
ChrX:153128972..153128973 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.3581C>T (p.Ser1194Leu) single nucleotide variant Inborn genetic diseases [RCV002460037]|MASA syndrome [RCV000010675]|Severe hydrocephalus [RCV001257378]|X-linked hydrocephalus syndrome [RCV000010674]|not provided [RCV000413812] ChrX:153862856 [GRCh38]
ChrX:153128311 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_001278116.2(L1CAM):c.536T>G (p.Ile179Ser) single nucleotide variant MASA syndrome [RCV000010676] ChrX:153870948 [GRCh38]
ChrX:153136403 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.1108G>A (p.Gly370Arg) single nucleotide variant MASA syndrome [RCV000010677]|Spastic paraplegia [RCV000815545]|X-linked hydrocephalus syndrome [RCV001198070]|not provided [RCV000255983] ChrX:153869818 [GRCh38]
ChrX:153135273 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.2421_2422del (p.Gly808fs) deletion X-linked hydrocephalus syndrome [RCV003151717] ChrX:153866658..153866659 [GRCh38]
ChrX:153132113..153132114 [GRCh37]
ChrX:Xq28
pathogenic
L1CAM, 924C-T single nucleotide variant X-linked hydrocephalus syndrome [RCV000010679] ChrX:Xq28 pathogenic
NM_001278116.2(L1CAM):c.2254G>A (p.Val752Met) single nucleotide variant X-linked hydrocephalus syndrome [RCV003151718]|not provided [RCV001794442] ChrX:153866826 [GRCh38]
ChrX:153132281 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.1939+5G>A single nucleotide variant Spastic paraplegia [RCV000794947]|X-linked hydrocephalus syndrome [RCV003151719] ChrX:153867795 [GRCh38]
ChrX:153133250 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance
NM_001278116.2(L1CAM):c.2974C>T (p.Gln992Ter) single nucleotide variant Hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction [RCV000010682]|not provided [RCV000430013] ChrX:153864893 [GRCh38]
ChrX:153130348 [GRCh37]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu) single nucleotide variant Congenital cerebellar hypoplasia [RCV001257991]|X-linked complicated corpus callosum dysgenesis [RCV000010684]|X-linked hydrocephalus syndrome [RCV000010683]|not provided [RCV001093004] ChrX:153870475 [GRCh38]
ChrX:153135930 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_001278116.2(L1CAM):c.2209-42_2229del deletion not provided [RCV000520445] ChrX:153866851..153866913 [GRCh38]
ChrX:153132306..153132368 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.785T>G (p.Leu262Arg) single nucleotide variant not provided [RCV000522968] ChrX:153870409 [GRCh38]
ChrX:153135864 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001278116.2(L1CAM):c.1304C>T (p.Thr435Met) single nucleotide variant Spastic paraplegia [RCV002527490]|not specified [RCV000517132] ChrX:153868916 [GRCh38]
ChrX:153134371 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:150036146-156022206)x3 copy number gain See cases [RCV000050946] ChrX:150036146..156022206 [GRCh38]
ChrX:149298619..155251871 [GRCh37]
ChrX:148955035..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:149989929-156022206)x3 copy number gain See cases [RCV000050657] ChrX:149989929..156022206 [GRCh38]
ChrX:149158160..155251871 [GRCh37]
ChrX:148908818..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] ChrX:145879711..156022206 [GRCh38]
ChrX:146715565..155251871 [GRCh37]
ChrX:144768921..154905065 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:153296806-155699618)x1 copy number loss See cases [RCV000051750] ChrX:153296806..155699618 [GRCh38]
ChrX:152568327..154929279 [GRCh37]
ChrX:152215458..154582473 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 copy number loss See cases [RCV000051732] ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] ChrX:140445228..155998166 [GRCh38]
ChrX:139527393..155227831 [GRCh37]
ChrX:139355059..154881025 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153722500-154367160)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052524]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052524]|See cases [RCV000052524] ChrX:153722500..154367160 [GRCh38]
ChrX:152641149..153248722 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153769547-154394658)x2 copy number gain See cases [RCV000052525] ChrX:153769547..154394658 [GRCh38]
ChrX:152688196..153276194 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153777340-154397779)x3 copy number gain See cases [RCV000052527] ChrX:153777340..154397779 [GRCh38]
ChrX:153333946..153626120 [GRCh37]
ChrX:152695989..153279314 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153787044-154397779)x2 copy number gain See cases [RCV000052528] ChrX:153787044..154397779 [GRCh38]
ChrX:153333946..153626120 [GRCh37]
ChrX:152705693..153279314 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:152932818-156022206)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|See cases [RCV000052490] ChrX:152932818..156022206 [GRCh38]
ChrX:152173071..155251871 [GRCh37]
ChrX:151852018..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153395425-155687381)x2 copy number gain See cases [RCV000052491] ChrX:153395425..155687381 [GRCh38]
ChrX:152314077..154570236 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153504314-154144797)x2 copy number gain See cases [RCV000052492] ChrX:153504314..154144797 [GRCh38]
ChrX:152422966..153063464 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 copy number gain See cases [RCV000052471] ChrX:140226495..155687381 [GRCh38]
ChrX:139308651..154917042 [GRCh37]
ChrX:139136317..154570236 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2 copy number gain See cases [RCV000052474] ChrX:140445228..154604471 [GRCh38]
ChrX:139527393..153832724 [GRCh37]
ChrX:139355059..153485918 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 copy number gain See cases [RCV000052475] ChrX:141160282..155699618 [GRCh38]
ChrX:140254480..154929279 [GRCh37]
ChrX:140082146..154582473 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:153585420-154427385)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|See cases [RCV000052521] ChrX:153585420..154427385 [GRCh38]
ChrX:152864376..153655730 [GRCh37]
ChrX:152504072..153308924 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153590730-154380801)x2 copy number gain See cases [RCV000052522] ChrX:153590730..154380801 [GRCh38]
ChrX:152864376..153609161 [GRCh37]
ChrX:152509382..153262355 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153714542-154380803)x2 copy number gain See cases [RCV000052523] ChrX:153714542..154380803 [GRCh38]
ChrX:152633191..153262357 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000425.4(L1CAM):c.2365C>T (p.Gln789Ter) single nucleotide variant Malignant melanoma [RCV000073125] ChrX:153866715 [GRCh38]
ChrX:153132170 [GRCh37]
ChrX:152785364 [NCBI36]
ChrX:Xq28
not provided
NM_001278116.2(L1CAM):c.3654G>C (p.Gln1218His) single nucleotide variant Inborn genetic diseases [RCV003163045]|MASA syndrome [RCV000660611]|not provided [RCV000992267] ChrX:153862783 [GRCh38]
ChrX:153128238 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.26G>A (p.Trp9Ter) single nucleotide variant not provided [RCV000657775] ChrX:153875811 [GRCh38]
ChrX:153141266 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.1021A>C (p.Ser341Arg) single nucleotide variant not provided [RCV000078725] ChrX:153869905 [GRCh38]
ChrX:153135360 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1268-10C>T single nucleotide variant Hereditary spastic paraplegia [RCV001847647]|Inborn genetic diseases [RCV002371926]|Spastic paraplegia [RCV000462803]|not provided [RCV001711180]|not specified [RCV000078726] ChrX:153868962 [GRCh38]
ChrX:153134417 [GRCh37]
ChrX:Xq28
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001278116.2(L1CAM):c.1704-14C>T single nucleotide variant Spastic paraplegia [RCV002055097]|not provided [RCV001534923]|not specified [RCV000078727] ChrX:153868136 [GRCh38]
ChrX:153133591 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.1880C>T (p.Thr627Met) single nucleotide variant Spastic paraplegia [RCV002055098]|not provided [RCV000078728] ChrX:153867859 [GRCh38]
ChrX:153133314 [GRCh37]
ChrX:Xq28
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001278116.2(L1CAM):c.197+17G>A single nucleotide variant Spastic paraplegia [RCV001516003]|not provided [RCV001598620]|not specified [RCV000078729] ChrX:153872575 [GRCh38]
ChrX:153138030 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.2137+5_2137+6insGGCAGGTGT insertion Spastic paraplegia [RCV001473187]|not provided [RCV000078730] ChrX:153867350..153867351 [GRCh38]
ChrX:153132805..153132806 [GRCh37]
ChrX:Xq28
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001278116.2(L1CAM):c.2209-6C>T single nucleotide variant Hereditary spastic paraplegia [RCV001847648]|Spastic paraplegia [RCV000471972]|not provided [RCV001689622]|not specified [RCV000078731] ChrX:153866877 [GRCh38]
ChrX:153132332 [GRCh37]
ChrX:Xq28
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile) single nucleotide variant Hereditary spastic paraplegia [RCV001847649]|Inborn genetic diseases [RCV002313749]|Spastic paraplegia [RCV001083170]|not provided [RCV000439917]|not specified [RCV000194324] ChrX:153866778 [GRCh38]
ChrX:153132233 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001278116.2(L1CAM):c.2307C>T (p.Ser769=) single nucleotide variant Hereditary spastic paraplegia [RCV001847650]|Inborn genetic diseases [RCV002313750]|Spastic paraplegia [RCV000465084]|not provided [RCV001636637]|not specified [RCV000078733] ChrX:153866773 [GRCh38]
ChrX:153132228 [GRCh37]
ChrX:Xq28
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001278116.2(L1CAM):c.23del (p.Val8fs) deletion not provided [RCV000173129] ChrX:153875814 [GRCh38]
ChrX:153141269 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.2872+9G>A single nucleotide variant not provided [RCV000723569]|not specified [RCV000194623] ChrX:153865079 [GRCh38]
ChrX:153130534 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.2872C>G (p.Leu958Val) single nucleotide variant Hereditary spastic paraplegia [RCV001847651]|Inborn genetic diseases [RCV002311557]|Spastic paraplegia [RCV001084616]|not provided [RCV000224902]|not specified [RCV000078736] ChrX:153865088 [GRCh38]
ChrX:153130543 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001278116.2(L1CAM):c.2879del (p.Glu960fs) deletion not provided [RCV000176265] ChrX:153864988 [GRCh38]
ChrX:153130443 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.28C>T (p.Pro10Ser) single nucleotide variant Inborn genetic diseases [RCV002313751]|Spastic paraplegia [RCV001087331]|not provided [RCV000224350]|not specified [RCV000078738] ChrX:153875809 [GRCh38]
ChrX:153141264 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.3014T>C (p.Ile1005Thr) single nucleotide variant Spastic paraplegia [RCV001854387]|not provided [RCV000078739] ChrX:153864853 [GRCh38]
ChrX:153130308 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.3081G>A (p.Ala1027=) single nucleotide variant Inborn genetic diseases [RCV002316222]|Spastic paraplegia [RCV001087351]|not provided [RCV000633088]|not specified [RCV000078740] ChrX:153864670 [GRCh38]
ChrX:153130125 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001278116.2(L1CAM):c.630C>T (p.His210=) single nucleotide variant Spastic paraplegia [RCV002515756]|not provided [RCV000078741] ChrX:153870854 [GRCh38]
ChrX:153136309 [GRCh37]
ChrX:Xq28
benign|uncertain significance
NM_001278116.2(L1CAM):c.720G>A (p.Pro240=) single nucleotide variant Hereditary spastic paraplegia [RCV001847652]|Inborn genetic diseases [RCV002311558]|Spastic paraplegia [RCV000475340]|not provided [RCV001647050]|not specified [RCV000078742] ChrX:153870474 [GRCh38]
ChrX:153135929 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001278116.2(L1CAM):c.860G>A (p.Arg287His) single nucleotide variant not provided [RCV000078743] ChrX:153870187 [GRCh38]
ChrX:153135642 [GRCh37]
ChrX:Xq28
benign|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_001278116.2(L1CAM):c.198-9C>A single nucleotide variant L1CAM-related condition [RCV003399063]|not specified [RCV001290577] ChrX:153872363 [GRCh38]
ChrX:153137818 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1124-6_1124-3dup duplication not provided [RCV000171448]|not specified [RCV003235090] ChrX:153869665..153869666 [GRCh38]
ChrX:153135120..153135121 [GRCh37]
ChrX:Xq28
likely pathogenic|uncertain significance
NM_001278116.2(L1CAM):c.924C>T (p.Gly308=) single nucleotide variant L1CAM-related condition [RCV003407666]|X-linked hydrocephalus syndrome [RCV000180160]|not provided [RCV000724594] ChrX:153870123 [GRCh38]
ChrX:153135578 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001278116.2(L1CAM):c.2712del (p.Ala906fs) deletion L1 syndrome [RCV001290587] ChrX:153865336 [GRCh38]
ChrX:153130791 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001278116.2(L1CAM):c.36C>A (p.Leu12=) single nucleotide variant Hereditary spastic paraplegia [RCV001847800]|Inborn genetic diseases [RCV002312701]|Spastic paraplegia [RCV000206868]|not specified [RCV000173128] ChrX:153875801 [GRCh38]
ChrX:153141256 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001278116.2(L1CAM):c.1100G>A (p.Arg367Lys) single nucleotide variant MASA syndrome [RCV001332431]|Spastic paraplegia [RCV002546562] ChrX:153869826 [GRCh38]
ChrX:153135281 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1 copy number loss See cases [RCV000133818] ChrX:139333024..155978689 [GRCh38]
ChrX:138415183..155208354 [GRCh37]
ChrX:138242849..154861548 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_001278116.2(L1CAM):c.1379+3G>A single nucleotide variant Spastic paraplegia [RCV001512461]|not provided [RCV000174003] ChrX:153868838 [GRCh38]
ChrX:153134293 [GRCh37]
ChrX:Xq28
benign|uncertain significance
NM_001278116.2(L1CAM):c.1316T>C (p.Val439Ala) single nucleotide variant not provided [RCV000174004] ChrX:153868904 [GRCh38]
ChrX:153134359 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_001278116.2(L1CAM):c.1547-4T>A single nucleotide variant Hereditary spastic paraplegia [RCV001847807]|Inborn genetic diseases [RCV002399626]|Spastic paraplegia [RCV000549622]|not provided [RCV001530655]|not specified [RCV000174476] ChrX:153868462 [GRCh38]
ChrX:153133917 [GRCh37]
ChrX:Xq28
benign|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:144627217-155434735)x3 copy number gain See cases [RCV000133725] ChrX:144627217..155434735 [GRCh38]
ChrX:146715565..154664396 [GRCh37]
ChrX:143516380..154317590 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
NM_001278116.2(L1CAM):c.2537G>T (p.Arg846Leu) single nucleotide variant Hereditary spastic paraplegia [RCV001847778]|Hydrocephalus due to aqueductal stenosis [RCV000146245]|Inborn genetic diseases [RCV002453468]|Spastic paraplegia [RCV002515965]|not specified [RCV000431818] ChrX:153865714 [GRCh38]
ChrX:153131169 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001278116.2(L1CAM):c.400+9C>T single nucleotide variant Hydrocephalus due to aqueductal stenosis [RCV000146246]|Spastic paraplegia [RCV002512577] ChrX:153872143 [GRCh38]
ChrX:153137598 [GRCh37]
ChrX:Xq28
benign|uncertain significance
NM_001278116.2(L1CAM):c.855C>T (p.Ala285=) single nucleotide variant Hereditary spastic paraplegia [RCV001847779]|Inborn genetic diseases [RCV002312643]|Spastic paraplegia [RCV000463737]|not provided [RCV001668292]|not specified [RCV000146247] ChrX:153870192 [GRCh38]
ChrX:153135647 [GRCh37]
ChrX:Xq28
benign|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
NM_001278116.2(L1CAM):c.1993C>G (p.Leu665Val) single nucleotide variant Inborn genetic diseases [RCV002415749]|Spastic paraplegia [RCV001522149]|not provided [RCV000415952]|not specified [RCV000175007] ChrX:153867500 [GRCh38]
ChrX:153132955 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001278116.2(L1CAM):c.1962C>T (p.Asp654=) single nucleotide variant Spastic paraplegia [RCV002056929]|not provided [RCV000175008] ChrX:153867531 [GRCh38]
ChrX:153132986 [GRCh37]
ChrX:Xq28
benign|uncertain significance
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq28(chrX:153855152-154092314)x2 copy number gain See cases [RCV000135840] ChrX:153855152..154092314 [GRCh38]
ChrX:152773801..153010966 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153296806-154604471)x2 copy number gain See cases [RCV000135451] ChrX:153296806..154604471 [GRCh38]
ChrX:152568327..153832724 [GRCh37]
ChrX:152215458..153485918 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140783390-155611114)x2 copy number gain See cases [RCV000135881] ChrX:140783390..155611114 [GRCh38]
ChrX:139865555..154785891 [GRCh37]
ChrX:139693221..154493969 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1 copy number loss See cases [RCV000136912] ChrX:141650284..156022206 [GRCh38]
ChrX:140738414..155251871 [GRCh37]
ChrX:140566080..154905065 [NCBI36]
ChrX:Xq27.2-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153322656-155522304)x2 copy number gain See cases [RCV000136716] ChrX:153322656..155522304 [GRCh38]
ChrX:152864376..154751965 [GRCh37]
ChrX:152241308..154405159 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:151750863-155522304)x1 copy number loss See cases [RCV000136718] ChrX:151750863..155522304 [GRCh38]
ChrX:150919335..154751965 [GRCh37]
ChrX:150669991..154405159 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153276277-156003242)x3 copy number gain See cases [RCV000137498] ChrX:153276277..156003242 [GRCh38]
ChrX:152465185..155232907 [GRCh37]
ChrX:152118379..154886101 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153667032-154394658)x2 copy number gain See cases [RCV000137536] ChrX:153667032..154394658 [GRCh38]
ChrX:152585681..153276194 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:153813894-154140759)x2 copy number gain See cases [RCV000137153] ChrX:153813894..154140759 [GRCh38]
ChrX:152732543..153059427 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1 copy number loss See cases [RCV000137257] ChrX:137118983..156003242 [GRCh38]
ChrX:136201142..155232907 [GRCh37]
ChrX:136028808..154886101 [NCBI36]
ChrX:Xq26.3-28
pathogenic|uncertain significance
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1 copy number loss See cases [RCV000138679] ChrX:143553831..156003229 [GRCh38]
ChrX:142641674..155232894 [GRCh37]
ChrX:142469340..154886088 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:153727116-154555423)x2 copy number gain See cases [RCV000138393] ChrX:153727116..154555423 [GRCh38]
ChrX:153333946..153783638 [GRCh37]
ChrX:152645765..153436832 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153813894-154383071)x2 copy number gain See cases [RCV000140524] ChrX:153813894..154383071 [GRCh38]
ChrX:153079349..153611431 [GRCh37]
ChrX:152732543..153264625 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153451351-154230630)x2 copy number gain See cases [RCV000140532] ChrX:153451351..154230630 [GRCh38]
ChrX:152716809..153496099 [GRCh37]
ChrX:152370003..153149293 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153802827-154294817)x2 copy number gain See cases [RCV000140537] ChrX:153802827..154294817 [GRCh38]
ChrX:153068282..153523170 [GRCh37]
ChrX:152721476..153176364 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1 copy number loss See cases [RCV000139724] ChrX:139530928..156003229 [GRCh38]
ChrX:138613087..155232894 [GRCh37]
ChrX:138440753..154886088 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq28(chrX:153392250-153934599)x3 copy number gain See cases [RCV000142157] ChrX:153392250..153934599 [GRCh38]
ChrX:152657708..153200052 [GRCh37]
ChrX:152310902..152853246 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:153861449-154140759)x2 copy number gain See cases [RCV000143114] ChrX:153861449..154140759 [GRCh38]
ChrX:152780098..153059427 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:148951460-155434653)x2 copy number gain See cases [RCV000143002] ChrX:148951460..155434653 [GRCh38]
ChrX:148956425..154664314 [GRCh37]
ChrX:147840690..154317508 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
NM_001278116.2(L1CAM):c.1977T>C (p.Pro659=) single nucleotide variant Hereditary spastic paraplegia [RCV001847783]|Inborn genetic diseases [RCV002415650]|Spastic paraplegia [RCV000633108]|not provided [RCV001651024]|not specified [RCV000153424] ChrX:153867516 [GRCh38]
ChrX:153132971 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001278116.2(L1CAM):c.3519C>T (p.Phe1173=) single nucleotide variant Inborn genetic diseases [RCV002312995]|Spastic paraplegia [RCV000633110]|not specified [RCV000153428] ChrX:153863488 [GRCh38]
ChrX:153128943 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_001278116.2(L1CAM):c.3192G>T (p.Ser1064=) single nucleotide variant Spastic paraplegia [RCV002516078]|not provided [RCV000153429] ChrX:153864452 [GRCh38]
ChrX:153129907 [GRCh37]
ChrX:Xq28
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001278116.2(L1CAM):c.2657G>A (p.Arg886Gln) single nucleotide variant MASA syndrome [RCV002492755]|Spastic paraplegia [RCV002516697]|not specified [RCV000176035] ChrX:153865391 [GRCh38]
ChrX:153130846 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001278116.2(L1CAM):c.3015C>T (p.Ile1005=) single nucleotide variant Spastic paraplegia [RCV000865607]|not provided [RCV001553154]|not specified [RCV000176264] ChrX:153864852 [GRCh38]
ChrX:153130307 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity
NM_001278116.2(L1CAM):c.2211G>A (p.Pro737=) single nucleotide variant Hereditary spastic paraplegia [RCV001847869]|Inborn genetic diseases [RCV002317697]|Spastic paraplegia [RCV000231132]|not provided [RCV001529378]|not specified [RCV000192521] ChrX:153866869 [GRCh38]
ChrX:153132324 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity
NM_001278116.2(L1CAM):c.807-6G>A single nucleotide variant L1 syndrome [RCV001582904]|Spastic paraplegia [RCV000470870]|not provided [RCV000255025] ChrX:153870246 [GRCh38]
ChrX:153135701 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.2092G>A (p.Gly698Arg) single nucleotide variant not provided [RCV000255190] ChrX:153867401 [GRCh38]
ChrX:153132856 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.1581A>C (p.Thr527=) single nucleotide variant Hereditary spastic paraplegia [RCV001847868]|Inborn genetic diseases [RCV002314829]|Spastic paraplegia [RCV000866731]|not specified [RCV000193071] ChrX:153868424 [GRCh38]
ChrX:153133879 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001278116.2(L1CAM):c.396C>T (p.Ala132=) single nucleotide variant Inborn genetic diseases [RCV002317046]|Spastic paraplegia [RCV001089013]|not provided [RCV000712207]|not specified [RCV000178097] ChrX:153872156 [GRCh38]
ChrX:153137611 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001278116.2(L1CAM):c.256G>A (p.Val86Met) single nucleotide variant Inborn genetic diseases [RCV002453634]|Spastic paraplegia [RCV002517722]|not provided [RCV000178098] ChrX:153872296 [GRCh38]
ChrX:153137751 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001278116.2(L1CAM):c.386G>A (p.Arg129Gln) single nucleotide variant Spastic paraplegia [RCV001515064]|not provided [RCV000178099] ChrX:153872166 [GRCh38]
ChrX:153137621 [GRCh37]
ChrX:Xq28
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001278116.2(L1CAM):c.1704-12G>C single nucleotide variant not specified [RCV000193900] ChrX:153868134 [GRCh38]
ChrX:153133589 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.2106G>A (p.Pro702=) single nucleotide variant Spastic paraplegia [RCV002054270]|not specified [RCV000194305] ChrX:153867387 [GRCh38]
ChrX:153132842 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001278116.2(L1CAM):c.618C>A (p.Asp206Glu) single nucleotide variant Spastic paraplegia [RCV003114346]|not provided [RCV000996050]|not specified [RCV000194913] ChrX:153870866 [GRCh38]
ChrX:153136321 [GRCh37]
ChrX:Xq28
benign|uncertain significance
NM_001278116.2(L1CAM):c.591T>C (p.Asn197=) single nucleotide variant Spastic paraplegia [RCV002054129]|not provided [RCV000179311] ChrX:153870893 [GRCh38]
ChrX:153136348 [GRCh37]
ChrX:Xq28
benign|uncertain significance
NM_001278116.2(L1CAM):c.603C>T (p.Ser201=) single nucleotide variant not provided [RCV000179312] ChrX:153870881 [GRCh38]
ChrX:153136336 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1002C>T (p.Tyr334=) single nucleotide variant Inborn genetic diseases [RCV002317065]|Spastic paraplegia [RCV000228863]|not provided [RCV001668345]|not specified [RCV000180502] ChrX:153869924 [GRCh38]
ChrX:153135379 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NM_001278116.2(L1CAM):c.91+1G>T single nucleotide variant not specified [RCV000192673] ChrX:153873227 [GRCh38]
ChrX:153138682 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.1939A>T (p.Lys647Ter) single nucleotide variant Spastic paraplegia [RCV000195759] ChrX:153867800 [GRCh38]
ChrX:153133255 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.2351A>G (p.Tyr784Cys) single nucleotide variant Hydrocephalus due to aqueductal stenosis [RCV000192536] ChrX:153866729 [GRCh38]
ChrX:153132184 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.2278C>T (p.Arg760Ter) single nucleotide variant Hydrocephalus due to aqueductal stenosis [RCV000193744]|L1 syndrome [RCV002509289]|X-linked complicated corpus callosum dysgenesis [RCV000714717]|X-linked hydrocephalus syndrome [RCV000714718]|not provided [RCV000494147] ChrX:153866802 [GRCh38]
ChrX:153132257 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.2614G>T (p.Val872Leu) single nucleotide variant not specified [RCV000193757] ChrX:153865434 [GRCh38]
ChrX:153130889 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.3531-1G>A single nucleotide variant MASA syndrome [RCV001786520] ChrX:153863380 [GRCh38]
ChrX:153128835 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001278116.2(L1CAM):c.1615T>G (p.Cys539Gly) single nucleotide variant X-linked hydrocephalus syndrome [RCV000258946] ChrX:153868390 [GRCh38]
ChrX:153133845 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_001278116.2(L1CAM):c.2544C>A (p.Tyr848Ter) single nucleotide variant Spastic paraplegia [RCV000633025]|not provided [RCV000255493] ChrX:153865707 [GRCh38]
ChrX:153131162 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.1453C>T (p.Arg485Ter) single nucleotide variant Spastic paraplegia [RCV001855005]|X-linked hydrocephalus syndrome [RCV001391257]|not provided [RCV000255535] ChrX:153868654 [GRCh38]
ChrX:153134109 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.523+12C>T single nucleotide variant L1 syndrome [RCV001553632]|Spastic paraplegia [RCV001855004]|not provided [RCV000255614] ChrX:153871045 [GRCh38]
ChrX:153136500 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_001278116.2(L1CAM):c.2380C>T (p.Gln794Ter) single nucleotide variant L1 syndrome [RCV002229193]|X-linked hydrocephalus syndrome [RCV000211546] ChrX:153866700 [GRCh38]
ChrX:153132155 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_001278116.2(L1CAM):c.2721C>T (p.Ser907=) single nucleotide variant Spastic paraplegia [RCV000553935]|not provided [RCV001532219] ChrX:153865327 [GRCh38]
ChrX:153130782 [GRCh37]
ChrX:Xq28
benign|likely benign|uncertain significance
NM_001278116.2(L1CAM):c.992-2A>G single nucleotide variant not provided [RCV000224561] ChrX:153869936 [GRCh38]
ChrX:153135391 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.806+5G>A single nucleotide variant Spastic paraplegia [RCV000233987] ChrX:153870383 [GRCh38]
ChrX:153135838 [GRCh37]
ChrX:Xq28
likely pathogenic|uncertain significance
GRCh37/hg19 Xq28(chrX:153126942-153141972)x0 copy number loss See cases [RCV000239792] ChrX:153126942..153141972 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:153047627-153555804)x2 copy number gain See cases [RCV000239929] ChrX:153047627..153555804 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:152912867-153236360)x2 copy number gain See cases [RCV000239969] ChrX:152912867..153236360 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:152993910-153555804)x2 copy number gain See cases [RCV000240396] ChrX:152993910..153555804 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.3458-34C>T single nucleotide variant not provided [RCV001707572]|not specified [RCV000248464] ChrX:153863583 [GRCh38]
ChrX:153129038 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.2698G>A (p.Gly900Arg) single nucleotide variant Spastic paraplegia [RCV000822372]|not specified [RCV000517896] ChrX:153865350 [GRCh38]
ChrX:153130805 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2 copy number gain See cases [RCV000240530] ChrX:142174780..155250222 [GRCh37]
ChrX:Xq27.3-28
pathogenic
NM_001278116.2(L1CAM):c.3322+19G>A single nucleotide variant Spastic paraplegia [RCV002055038]|not specified [RCV000244308] ChrX:153864303 [GRCh38]
ChrX:153129758 [GRCh37]
ChrX:Xq28
benign|likely benign
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001278116.2(L1CAM):c.177del (p.Ser60fs) deletion not provided [RCV000255965] ChrX:153872612 [GRCh38]
ChrX:153138067 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq28(chrX:153126942-153141190)x0 copy number loss See cases [RCV000240503] ChrX:153126942..153141190 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.2547+1G>A single nucleotide variant not provided [RCV000256047] ChrX:153865703 [GRCh38]
ChrX:153131158 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.1417C>T (p.Arg473Cys) single nucleotide variant L1 syndrome [RCV001251391]|Spastic paraplegia [RCV001063204]|not provided [RCV000256126] ChrX:153868690 [GRCh38]
ChrX:153134145 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.294G>A (p.Thr98=) single nucleotide variant Inborn genetic diseases [RCV002313977]|Spastic paraplegia [RCV000860873]|not provided [RCV001668428]|not specified [RCV000252322] ChrX:153872258 [GRCh38]
ChrX:153137713 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001278116.2(L1CAM):c.1704-34G>C single nucleotide variant not specified [RCV000242899] ChrX:153868156 [GRCh38]
ChrX:153133611 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001278116.2(L1CAM):c.992-32C>T single nucleotide variant not provided [RCV001711651]|not specified [RCV000248126] ChrX:153869966 [GRCh38]
ChrX:153135421 [GRCh37]
ChrX:Xq28
benign|likely benign
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001278116.2(L1CAM):c.1146C>G (p.Tyr382Ter) single nucleotide variant not provided [RCV000273260] ChrX:153869641 [GRCh38]
ChrX:153135096 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.963C>T (p.Ala321=) single nucleotide variant Spastic paraplegia [RCV002059214]|not provided [RCV000284128] ChrX:153870084 [GRCh38]
ChrX:153135539 [GRCh37]
ChrX:Xq28
benign|uncertain significance
NM_001278116.2(L1CAM):c.2308G>A (p.Asp770Asn) single nucleotide variant not provided [RCV000290168]|not specified [RCV002271484] ChrX:153866772 [GRCh38]
ChrX:153132227 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1249G>A (p.Ala417Thr) single nucleotide variant not provided [RCV000359762] ChrX:153869538 [GRCh38]
ChrX:153134993 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1107C>T (p.Asn369=) single nucleotide variant Spastic paraplegia [RCV002059183]|not provided [RCV000265468] ChrX:153869819 [GRCh38]
ChrX:153135274 [GRCh37]
ChrX:Xq28
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001278116.2(L1CAM):c.1469_1474del (p.Asn490_Asp491del) deletion not provided [RCV000490194] ChrX:153868633..153868638 [GRCh38]
ChrX:153134088..153134093 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1123+5G>A single nucleotide variant not provided [RCV000522923] ChrX:153869798 [GRCh38]
ChrX:153135253 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.3323-24dup duplication Spastic paraplegia [RCV002060205]|not provided [RCV000514788]|not specified [RCV000601751] ChrX:153864035..153864036 [GRCh38]
ChrX:153129490..153129491 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001278116.2(L1CAM):c.3352G>C (p.Ala1118Pro) single nucleotide variant not provided [RCV003223825] ChrX:153863988 [GRCh38]
ChrX:153129443 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.3774G>C (p.Ter1258Tyr) single nucleotide variant not provided [RCV000519922] ChrX:153862663 [GRCh38]
ChrX:153128118 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001278116.2(L1CAM):c.23T>A (p.Val8Glu) single nucleotide variant not provided [RCV000314558] ChrX:153875814 [GRCh38]
ChrX:153141269 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.2849G>A (p.Gly950Asp) single nucleotide variant not provided [RCV000292448] ChrX:153865111 [GRCh38]
ChrX:153130566 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_153128098)_(153141311_?)del deletion Spastic paraplegia [RCV000550964] ChrX:153128098..153141311 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.232C>T (p.Pro78Ser) single nucleotide variant Spastic paraplegia [RCV001457196]|not specified [RCV000604142] ChrX:153872320 [GRCh38]
ChrX:153137775 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.219T>C (p.Gly73=) single nucleotide variant not provided [RCV000592176] ChrX:153872333 [GRCh38]
ChrX:153137788 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1704-1G>A single nucleotide variant L1CAM-related condition [RCV003403410]|not provided [RCV000598815] ChrX:153868123 [GRCh38]
ChrX:153133578 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.2918_2919del (p.Pro973fs) deletion not provided [RCV000599167] ChrX:153864948..153864949 [GRCh38]
ChrX:153130403..153130404 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.1267+1G>A single nucleotide variant L1 syndrome [RCV001260406]|Spastic paraplegia [RCV001221488]|not provided [RCV000522273] ChrX:153869519 [GRCh38]
ChrX:153134974 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_001278116.2(L1CAM):c.3166+1G>A single nucleotide variant L1 syndrome [RCV000790407] ChrX:153864584 [GRCh38]
ChrX:153130039 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.113C>T (p.Thr38Met) single nucleotide variant Inborn genetic diseases [RCV002314948]|MASA syndrome [RCV002497076]|Spastic paraplegia [RCV000524706]|not provided [RCV001653889]|not specified [RCV001662537] ChrX:153872676 [GRCh38]
ChrX:153138131 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001278116.2(L1CAM):c.2911C>T (p.Arg971Trp) single nucleotide variant not specified [RCV000413228] ChrX:153864956 [GRCh38]
ChrX:153130411 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.170G>A (p.Cys57Tyr) single nucleotide variant not provided [RCV000413431] ChrX:153872619 [GRCh38]
ChrX:153138074 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1939+5G>C single nucleotide variant not provided [RCV000413779] ChrX:153867795 [GRCh38]
ChrX:153133250 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:152228560-154930047)x2 copy number gain See cases [RCV000447331] ChrX:152228560..154930047 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:152970475-153524157)x2 copy number gain See cases [RCV000447506] ChrX:152970475..153524157 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:150253008-155233731)x1 copy number loss See cases [RCV000446761] ChrX:150253008..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153126942-153143271)x1 copy number loss See cases [RCV000446311] ChrX:153126942..153143271 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001278116.2(L1CAM):c.-45T>A single nucleotide variant not specified [RCV000438963] ChrX:153875881 [GRCh38]
ChrX:153141336 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.3099C>T (p.Val1033=) single nucleotide variant not specified [RCV000428829] ChrX:153864652 [GRCh38]
ChrX:153130107 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_001278116.2(L1CAM):c.523+16C>T single nucleotide variant not specified [RCV000433056] ChrX:153871041 [GRCh38]
ChrX:153136496 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.2697C>T (p.Asn899=) single nucleotide variant Inborn genetic diseases [RCV002429399]|Spastic paraplegia [RCV002062724]|not specified [RCV000440185] ChrX:153865351 [GRCh38]
ChrX:153130806 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001278116.2(L1CAM):c.2343C>G (p.Phe781Leu) single nucleotide variant not provided [RCV000433806] ChrX:153866737 [GRCh38]
ChrX:153132192 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.2433C>A (p.Tyr811Ter) single nucleotide variant not provided [RCV000441590] ChrX:153865818 [GRCh38]
ChrX:153131273 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:152886474-153368990)x2 copy number gain See cases [RCV000448796] ChrX:152886474..153368990 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1 copy number loss See cases [RCV000448865] ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NM_001278116.2(L1CAM):c.1899G>C (p.Val633=) single nucleotide variant Spastic paraplegia [RCV003103789] ChrX:153867840 [GRCh38]
ChrX:153133295 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.1028_1032dup (p.Gly345fs) duplication not provided [RCV000481500] ChrX:153869893..153869894 [GRCh38]
ChrX:153135348..153135349 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153129338)_(153131274_?)del deletion Spastic paraplegia [RCV000463166] ChrX:153129338..153131274 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.2249A>C (p.Tyr750Ser) single nucleotide variant not provided [RCV000483657] ChrX:153866831 [GRCh38]
ChrX:153132286 [GRCh37]
ChrX:Xq28
likely pathogenic|uncertain significance
NM_001278116.2(L1CAM):c.806+1G>C single nucleotide variant Spastic paraplegia [RCV002526546]|not provided [RCV000484761] ChrX:153870387 [GRCh38]
ChrX:153135842 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.998C>G (p.Pro333Arg) single nucleotide variant Spastic paraplegia [RCV002525764]|not provided [RCV000484845] ChrX:153869928 [GRCh38]
ChrX:153135383 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_001278116.2(L1CAM):c.452G>A (p.Gly151Glu) single nucleotide variant not provided [RCV000481510] ChrX:153871128 [GRCh38]
ChrX:153136583 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1939+1G>A single nucleotide variant not provided [RCV000485549] ChrX:153867799 [GRCh38]
ChrX:153133254 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.2370C>T (p.Ala790=) single nucleotide variant Spastic paraplegia [RCV001418283] ChrX:153866710 [GRCh38]
ChrX:153132165 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.3523G>A (p.Glu1175Lys) single nucleotide variant Spastic paraplegia [RCV002525939]|not provided [RCV000479930] ChrX:153863484 [GRCh38]
ChrX:153128939 [GRCh37]
ChrX:Xq28
likely pathogenic|likely benign|uncertain significance
NM_001278116.2(L1CAM):c.1408C>T (p.Gln470Ter) single nucleotide variant X-linked hydrocephalus syndrome [RCV001262258]|not provided [RCV000487331] ChrX:153868699 [GRCh38]
ChrX:153134154 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.1445T>C (p.Leu482Pro) single nucleotide variant not provided [RCV000478627] ChrX:153868662 [GRCh38]
ChrX:153134117 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1828+5G>T single nucleotide variant not provided [RCV000480495] ChrX:153867993 [GRCh38]
ChrX:153133448 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq28(chrX:151201777-154741703)x2 copy number gain See cases [RCV000510478] ChrX:151201777..154741703 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.3672G>A (p.Ser1224=) single nucleotide variant Inborn genetic diseases [RCV002311820]|Spastic paraplegia [RCV002060125]|not specified [RCV000503444] ChrX:153862765 [GRCh38]
ChrX:153128220 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001278116.2(L1CAM):c.3412C>G (p.Leu1138Val) single nucleotide variant Spastic paraplegia [RCV000542375]|not specified [RCV000501462] ChrX:153863928 [GRCh38]
ChrX:153129383 [GRCh37]
ChrX:Xq28
benign|uncertain significance
NM_001278116.2(L1CAM):c.704T>C (p.Met235Thr) single nucleotide variant X-linked hydrocephalus syndrome [RCV000678319]|not provided [RCV000497542] ChrX:153870490 [GRCh38]
ChrX:153135945 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001278116.2(L1CAM):c.2431+5G>A single nucleotide variant Spastic paraplegia [RCV001234704]|not provided [RCV000497711] ChrX:153866644 [GRCh38]
ChrX:153132099 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_001278116.2(L1CAM):c.3053C>G (p.Ser1018Ter) single nucleotide variant Hydrocephalus due to aqueductal stenosis [RCV000502360] ChrX:153864698 [GRCh38]
ChrX:153130153 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.1704G>A (p.Lys568=) single nucleotide variant not specified [RCV000502483] ChrX:153868122 [GRCh38]
ChrX:153133577 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1759G>C (p.Gly587Arg) single nucleotide variant Hereditary spastic paraplegia [RCV001848871]|Inborn genetic diseases [RCV002413377]|Spastic paraplegia [RCV001517300]|not specified [RCV000500394] ChrX:153868067 [GRCh38]
ChrX:153133522 [GRCh37]
ChrX:Xq28
benign|likely benign|uncertain significance
NM_001278116.2(L1CAM):c.502del (p.Arg168fs) deletion not provided [RCV000498241] ChrX:153871078 [GRCh38]
ChrX:153136533 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153097608-153681801)x2 copy number gain See cases [RCV000510362] ChrX:153097608..153681801 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.3642C>T (p.Ser1214=) single nucleotide variant Inborn genetic diseases [RCV002350120]|Spastic paraplegia [RCV002056853]|not specified [RCV000500638] ChrX:153862795 [GRCh38]
ChrX:153128250 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001278116.2(L1CAM):c.1187C>A (p.Pro396His) single nucleotide variant not specified [RCV000500893] ChrX:153869600 [GRCh38]
ChrX:153135055 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic|uncertain significance
NM_001278116.2(L1CAM):c.1767C>A (p.Tyr589Ter) single nucleotide variant not provided [RCV000494118] ChrX:153868059 [GRCh38]
ChrX:153133514 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
NM_001278116.2(L1CAM):c.1485C>G (p.Tyr495Ter) single nucleotide variant not provided [RCV000494608] ChrX:153868622 [GRCh38]
ChrX:153134077 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.2205G>A (p.Trp735Ter) single nucleotide variant not provided [RCV000494635] ChrX:153867057 [GRCh38]
ChrX:153132512 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_001278116.2(L1CAM):c.826T>A (p.Trp276Arg) single nucleotide variant not provided [RCV000492967] ChrX:153870221 [GRCh38]
ChrX:153135676 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
NM_001278116.2(L1CAM):c.266C>A (p.Ser89Ter) single nucleotide variant not provided [RCV000493177] ChrX:153872286 [GRCh38]
ChrX:153137741 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_001278116.2(L1CAM):c.2438dup (p.Ala814fs) duplication not provided [RCV000493415] ChrX:153865812..153865813 [GRCh38]
ChrX:153131267..153131268 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1 copy number loss See cases [RCV000511228] ChrX:146232592..155233731 [GRCh37]
ChrX:Xq27.3-28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:151963528-155233731)x1 copy number loss See cases [RCV000510866] ChrX:151963528..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:151311551-155233731)x1 copy number loss See cases [RCV000510920] ChrX:151311551..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NC_000023.10:g.(?_153132791)_(153141311_?)del deletion Spastic paraplegia [RCV000633117] ChrX:153132791..153141311 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.1672C>T (p.Arg558Ter) single nucleotide variant MASA syndrome [RCV002298692]|Spastic paraplegia [RCV001044106]|not provided [RCV000579326] ChrX:153868333 [GRCh38]
ChrX:153133788 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.2042C>T (p.Pro681Leu) single nucleotide variant Spastic paraplegia [RCV000633032]|not provided [RCV001766346] ChrX:153867451 [GRCh38]
ChrX:153132906 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_153128098)_(153599633_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000645140] ChrX:153128098..153599633 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.1358C>T (p.Ala453Val) single nucleotide variant Spastic paraplegia [RCV000539404] ChrX:153868862 [GRCh38]
ChrX:153134317 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.3323-11C>G single nucleotide variant not specified [RCV000612701] ChrX:153864028 [GRCh38]
ChrX:153129483 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.401-16C>T single nucleotide variant not specified [RCV000601847] ChrX:153871195 [GRCh38]
ChrX:153136650 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.3542+14G>A single nucleotide variant Spastic paraplegia [RCV002062941]|not specified [RCV000614217] ChrX:153863354 [GRCh38]
ChrX:153128809 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001278116.2(L1CAM):c.3163G>A (p.Gly1055Arg) single nucleotide variant Spastic paraplegia [RCV002524421]|X-linked complicated corpus callosum dysgenesis [RCV000656097] ChrX:153864588 [GRCh38]
ChrX:153130043 [GRCh37]
ChrX:Xq28
benign|uncertain significance
NM_001278116.2(L1CAM):c.2368G>C (p.Ala790Pro) single nucleotide variant not provided [RCV003239115] ChrX:153866712 [GRCh38]
ChrX:153132167 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.338G>A (p.Arg113His) single nucleotide variant History of neurodevelopmental disorder [RCV000721055]|Spastic paraplegia [RCV000532238] ChrX:153872214 [GRCh38]
ChrX:153137669 [GRCh37]
ChrX:Xq28
benign|uncertain significance
NM_001278116.2(L1CAM):c.3039C>G (p.Ala1013=) single nucleotide variant not specified [RCV000604325] ChrX:153864828 [GRCh38]
ChrX:153130283 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq28(chrX:152899437-153624564)x2 copy number gain See cases [RCV000512403] ChrX:152899437..153624564 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.2137+1G>A single nucleotide variant Spastic paraplegia [RCV000633045] ChrX:153867355 [GRCh38]
ChrX:153132810 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001278116.2(L1CAM):c.3046+1G>C single nucleotide variant Spastic paraplegia [RCV000633014] ChrX:153864820 [GRCh38]
ChrX:153130275 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001278116.2(L1CAM):c.3071C>G (p.Ser1024Ter) single nucleotide variant not provided [RCV000578796] ChrX:153864680 [GRCh38]
ChrX:153130135 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.1379G>A (p.Trp460Ter) single nucleotide variant not provided [RCV000579131] ChrX:153868841 [GRCh38]
ChrX:153134296 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq28(chrX:153138672-153665655) copy number gain Microcytic anemia [RCV000626549] ChrX:153138672..153665655 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.3592G>C (p.Asp1198His) single nucleotide variant not provided [RCV000659185] ChrX:153862845 [GRCh38]
ChrX:153128300 [GRCh37]
ChrX:Xq28
uncertain significance
Single allele duplication not provided [RCV000677999] ChrX:152912867..153236360 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.3549C>T (p.Asn1183=) single nucleotide variant Inborn genetic diseases [RCV002314382]|Spastic paraplegia [RCV002067021] ChrX:153862888 [GRCh38]
ChrX:153128343 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 copy number loss not provided [RCV000684401] ChrX:139504488..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 copy number gain not provided [RCV000684402] ChrX:140388077..155233731 [GRCh37]
ChrX:Xq27.2-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 copy number loss not provided [RCV000684397] ChrX:138331745..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_001278116.2(L1CAM):c.1570C>T (p.Pro524Ser) single nucleotide variant X-linked hydrocephalus syndrome [RCV000681474] ChrX:153868435 [GRCh38]
ChrX:153133890 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:152398094-153176959)x2 copy number gain not provided [RCV000684736] ChrX:152398094..153176959 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:152628304-153594168)x2 copy number gain not provided [RCV000684738] ChrX:152628304..153594168 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:152941302-153438781)x3 copy number gain not provided [RCV000684739] ChrX:152941302..153438781 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq28(chrX:153123907-153431401)x2 copy number gain not provided [RCV000684741] ChrX:153123907..153431401 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
NM_001278116.2(L1CAM):c.2014C>T (p.Gln672Ter) single nucleotide variant Spastic paraplegia [RCV000685478] ChrX:153867479 [GRCh38]
ChrX:153132934 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.1433C>A (p.Ala478Asp) single nucleotide variant Spastic paraplegia [RCV000704149] ChrX:153868674 [GRCh38]
ChrX:153134129 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NC_000023.10:g.(?_153136492)_(153138172_?)del deletion Spastic paraplegia [RCV000708519] ChrX:153136492..153138172 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance
NM_001278116.2(L1CAM):c.2274G>A (p.Gly758=) single nucleotide variant Inborn genetic diseases [RCV002314594]|Spastic paraplegia [RCV000862520] ChrX:153866806 [GRCh38]
ChrX:153132261 [GRCh37]
ChrX:Xq28
benign|likely benign
NC_000023.10:g.(?_152954010)_(153599633_?)dup duplication Creatine transporter deficiency [RCV003117500]|Severe neonatal-onset encephalopathy with microcephaly [RCV000707841] ChrX:152954010..153599633 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance
NM_001278116.2(L1CAM):c.1219C>T (p.Arg407Cys) single nucleotide variant Spastic paraplegia [RCV000688821] ChrX:153869568 [GRCh38]
ChrX:153135023 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001278116.2(L1CAM):c.2848G>A (p.Gly950Ser) single nucleotide variant Spastic paraplegia [RCV000703388] ChrX:153865112 [GRCh38]
ChrX:153130567 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_153128823)_(153416424_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000708432] ChrX:153128823..153416424 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.2065G>A (p.Val689Ile) single nucleotide variant Spastic paraplegia [RCV000689607] ChrX:153867428 [GRCh38]
ChrX:153132883 [GRCh37]
ChrX:Xq28
benign|uncertain significance
NM_001278116.2(L1CAM):c.2300T>C (p.Ile767Thr) single nucleotide variant Spastic paraplegia [RCV000707011] ChrX:153866780 [GRCh38]
ChrX:153132235 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.400+5G>A single nucleotide variant Spastic paraplegia [RCV000693176]|not provided [RCV001310754] ChrX:153872147 [GRCh38]
ChrX:153137602 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_001278116.2(L1CAM):c.3326G>A (p.Arg1109His) single nucleotide variant Spastic paraplegia [RCV002534505]|not provided [RCV000712206] ChrX:153864014 [GRCh38]
ChrX:153129469 [GRCh37]
ChrX:Xq28
benign|uncertain significance
NC_000023.10:g.(?_153128118)_(153416424_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000707765] ChrX:153128118..153416424 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.2195T>A (p.Val732Asp) single nucleotide variant Spastic paraplegia [RCV000703115] ChrX:153867067 [GRCh38]
ChrX:153132522 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1546G>A (p.Asp516Asn) single nucleotide variant Spastic paraplegia [RCV000705270] ChrX:153868561 [GRCh38]
ChrX:153134016 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.2583C>G (p.His861Gln) single nucleotide variant Aganglionic megacolon [RCV000736050]|Spastic paraplegia [RCV001509675] ChrX:153865465 [GRCh38]
ChrX:153130920 [GRCh37]
ChrX:Xq28
benign|likely benign
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_001278116.2(L1CAM):c.2552C>T (p.Thr851Met) single nucleotide variant Inborn genetic diseases [RCV002312442]|Spastic paraplegia [RCV002067012] ChrX:153865496 [GRCh38]
ChrX:153130951 [GRCh37]
ChrX:Xq28
benign|uncertain significance
NM_001278116.2(L1CAM):c.3711G>A (p.Ala1237=) single nucleotide variant Inborn genetic diseases [RCV002318046] ChrX:153862726 [GRCh38]
ChrX:153128181 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.2537G>A (p.Arg846His) single nucleotide variant Inborn genetic diseases [RCV002313631]|Spastic paraplegia [RCV002534561] ChrX:153865714 [GRCh38]
ChrX:153131169 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001278116.2(L1CAM):c.3187C>T (p.Leu1063Phe) single nucleotide variant Inborn genetic diseases [RCV002315337] ChrX:153864457 [GRCh38]
ChrX:153129912 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1148G>A (p.Arg383Gln) single nucleotide variant Inborn genetic diseases [RCV002318079] ChrX:153869639 [GRCh38]
ChrX:153135094 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001278116.2(L1CAM):c.2853C>T (p.Tyr951=) single nucleotide variant Inborn genetic diseases [RCV002318089]|Spastic paraplegia [RCV002534924] ChrX:153865107 [GRCh38]
ChrX:153130562 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001278116.2(L1CAM):c.649A>C (p.Arg217=) single nucleotide variant Inborn genetic diseases [RCV002318830]|MASA syndrome [RCV001730709]|Spastic paraplegia [RCV000865401]|X-linked complicated corpus callosum dysgenesis [RCV001730710]|X-linked hydrocephalus syndrome [RCV001730708]|not provided [RCV001709685] ChrX:153870835 [GRCh38]
ChrX:153136290 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001278116.2(L1CAM):c.1220G>A (p.Arg407His) single nucleotide variant Inborn genetic diseases [RCV002318090] ChrX:153869567 [GRCh38]
ChrX:153135022 [GRCh37]
ChrX:Xq28
benign|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
NM_001278116.2(L1CAM):c.1828+1G>A single nucleotide variant not provided [RCV001571389] ChrX:153867997 [GRCh38]
ChrX:153133452 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 copy number loss not provided [RCV000753810] ChrX:138750575..155246749 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:152806628-153626649)x2 copy number gain not provided [RCV000753922] ChrX:152806628..153626649 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1 copy number loss not provided [RCV000753815] ChrX:139504958..155254881 [GRCh37]
ChrX:Xq27.1-28
pathogenic
NM_001278116.2(L1CAM):c.385C>T (p.Arg129Trp) single nucleotide variant Inborn genetic diseases [RCV002359156]|MASA syndrome [RCV002495862]|Spastic paraplegia [RCV003120621]|not provided [RCV001532221] ChrX:153872167 [GRCh38]
ChrX:153137622 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NM_001278116.2(L1CAM):c.1143G>A (p.Lys381=) single nucleotide variant Spastic paraplegia [RCV001495245]|not provided [RCV003432826] ChrX:153869644 [GRCh38]
ChrX:153135099 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.3458-139G>A single nucleotide variant not provided [RCV001725715] ChrX:153863688 [GRCh38]
ChrX:153129143 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.1293G>A (p.Ala431=) single nucleotide variant Hereditary spastic paraplegia [RCV001847313]|Inborn genetic diseases [RCV002386493]|Spastic paraplegia [RCV002539576]|not provided [RCV001643341] ChrX:153868927 [GRCh38]
ChrX:153134382 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001278116.2(L1CAM):c.992-3C>T single nucleotide variant Spastic paraplegia [RCV001907817] ChrX:153869937 [GRCh38]
ChrX:153135392 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_001278116.2(L1CAM):c.76+55C>T single nucleotide variant not provided [RCV001647694] ChrX:153875706 [GRCh38]
ChrX:153141161 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.400+291C>G single nucleotide variant not provided [RCV001546763] ChrX:153871861 [GRCh38]
ChrX:153137316 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.1205C>G (p.Thr402Ser) single nucleotide variant not provided [RCV000762681] ChrX:153869582 [GRCh38]
ChrX:153135037 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.3427A>G (p.Ile1143Val) single nucleotide variant not provided [RCV003239056] ChrX:153863913 [GRCh38]
ChrX:153129368 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.2440dup (p.Ala814fs) duplication X-linked hydrocephalus syndrome [RCV000990983] ChrX:153865810..153865811 [GRCh38]
ChrX:153131265..153131266 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.77-132C>A single nucleotide variant not provided [RCV001565877] ChrX:153873374 [GRCh38]
ChrX:153138829 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.2872+1G>C single nucleotide variant Global developmental delay [RCV001559326] ChrX:153865087 [GRCh38]
ChrX:153130542 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.266C>T (p.Ser89Leu) single nucleotide variant Spastic paraplegia [RCV000864758] ChrX:153872286 [GRCh38]
ChrX:153137741 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.3327C>T (p.Arg1109=) single nucleotide variant Inborn genetic diseases [RCV002319992]|Spastic paraplegia [RCV001518063]|not provided [RCV003432815] ChrX:153864013 [GRCh38]
ChrX:153129468 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001278116.2(L1CAM):c.2091C>T (p.Pro697=) single nucleotide variant Spastic paraplegia [RCV002538984] ChrX:153867402 [GRCh38]
ChrX:153132857 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.1353C>T (p.Phe451=) single nucleotide variant not provided [RCV000869287] ChrX:153868867 [GRCh38]
ChrX:153134322 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.92T>C (p.Val31Ala) single nucleotide variant not provided [RCV000870382] ChrX:153872697 [GRCh38]
ChrX:153138152 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.3735G>A (p.Gly1245=) single nucleotide variant Spastic paraplegia [RCV001517099] ChrX:153862702 [GRCh38]
ChrX:153128157 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.99G>C (p.Glu33Asp) single nucleotide variant Inborn genetic diseases [RCV002381944]|not provided [RCV000867312] ChrX:153872690 [GRCh38]
ChrX:153138145 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001278116.2(L1CAM):c.3690T>C (p.Ser1230=) single nucleotide variant Spastic paraplegia [RCV001519834] ChrX:153862747 [GRCh38]
ChrX:153128202 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.1476C>T (p.Thr492=) single nucleotide variant Spastic paraplegia [RCV002064658] ChrX:153868631 [GRCh38]
ChrX:153134086 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.2232C>T (p.Asn744=) single nucleotide variant Hereditary spastic paraplegia [RCV001847058]|Inborn genetic diseases [RCV002427122]|Spastic paraplegia [RCV000865405] ChrX:153866848 [GRCh38]
ChrX:153132303 [GRCh37]
ChrX:Xq28
benign|likely benign|uncertain significance
NM_001278116.2(L1CAM):c.2058C>T (p.Thr686=) single nucleotide variant not provided [RCV000946273] ChrX:153867435 [GRCh38]
ChrX:153132890 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.367G>A (p.Ala123Thr) single nucleotide variant Spastic paraplegia [RCV001428176]|not provided [RCV000867169] ChrX:153872185 [GRCh38]
ChrX:153137640 [GRCh37]
ChrX:Xq28
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001278116.2(L1CAM):c.1269G>A (p.Gln423=) single nucleotide variant Spastic paraplegia [RCV001513218] ChrX:153868951 [GRCh38]
ChrX:153134406 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.2452C>T (p.Leu818=) single nucleotide variant not provided [RCV000927910] ChrX:153865799 [GRCh38]
ChrX:153131254 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.964C>T (p.Arg322Trp) single nucleotide variant Inborn genetic diseases [RCV003372930]|Spastic paraplegia [RCV000983859]|not provided [RCV003432986] ChrX:153870083 [GRCh38]
ChrX:153135538 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.1786G>C (p.Glu596Gln) single nucleotide variant Spastic paraplegia [RCV001050309] ChrX:153868040 [GRCh38]
ChrX:153133495 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NM_001278116.2(L1CAM):c.910G>T (p.Glu304Ter) single nucleotide variant Spastic paraplegia [RCV001069390] ChrX:153870137 [GRCh38]
ChrX:153135592 [GRCh37]
ChrX:Xq28
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_001278116.2(L1CAM):c.1411G>A (p.Asp471Asn) single nucleotide variant not provided [RCV000996046] ChrX:153868696 [GRCh38]
ChrX:153134151 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1387G>A (p.Glu463Lys) single nucleotide variant not provided [RCV000996047] ChrX:153868720 [GRCh38]
ChrX:153134175 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.-31C>G single nucleotide variant not provided [RCV001608777] ChrX:153875867 [GRCh38]
ChrX:153141322 [GRCh37]
ChrX:Xq28
benign
NC_000023.10:g.(?_153128108)_(153609567_?)dup duplication X-linked Emery-Dreifuss muscular dystrophy [RCV000795425] ChrX:153128108..153609567 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.3019C>G (p.Arg1007Gly) single nucleotide variant not specified [RCV000781491] ChrX:153864848 [GRCh38]
ChrX:153130303 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.749del (p.Ser250fs) deletion L1 syndrome [RCV000790408] ChrX:153870445 [GRCh38]
ChrX:153135900 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.3530+8G>A single nucleotide variant Spastic paraplegia [RCV000860538] ChrX:153863469 [GRCh38]
ChrX:153128924 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.1329T>G (p.Thr443=) single nucleotide variant not provided [RCV000869055] ChrX:153868891 [GRCh38]
ChrX:153134346 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.1335C>T (p.Tyr445=) single nucleotide variant not provided [RCV000876714] ChrX:153868885 [GRCh38]
ChrX:153134340 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.523+10G>T single nucleotide variant Spastic paraplegia [RCV001408329] ChrX:153871047 [GRCh38]
ChrX:153136502 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.1161C>T (p.Gly387=) single nucleotide variant Spastic paraplegia [RCV001414841] ChrX:153869626 [GRCh38]
ChrX:153135081 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.33C>T (p.Leu11=) single nucleotide variant Spastic paraplegia [RCV001520759]|not provided [RCV003432803] ChrX:153875804 [GRCh38]
ChrX:153141259 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001278116.2(L1CAM):c.1722G>A (p.Gly574=) single nucleotide variant Spastic paraplegia [RCV001445649] ChrX:153868104 [GRCh38]
ChrX:153133559 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.1851G>A (p.Arg617=) single nucleotide variant Spastic paraplegia [RCV002064453] ChrX:153867888 [GRCh38]
ChrX:153133343 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.1379+7G>A single nucleotide variant not provided [RCV000840969] ChrX:153868834 [GRCh38]
ChrX:153134289 [GRCh37]
ChrX:Xq28
likely benign
NC_000023.10:g.(?_152954020)_(154096327_?)del deletion Adrenoleukodystrophy [RCV000815921] ChrX:152954020..154096327 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.487A>G (p.Ser163Gly) single nucleotide variant Spastic paraplegia [RCV000803125] ChrX:153871093 [GRCh38]
ChrX:153136548 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_153137587)_(153363142_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000794134] ChrX:153137587..153363142 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153128098)_(153363142_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000801357] ChrX:153128098..153363142 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.3496C>T (p.Arg1166Ter) single nucleotide variant Spastic paraplegia [RCV000802301]|not provided [RCV001553213] ChrX:153863511 [GRCh38]
ChrX:153128966 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.1678C>T (p.Leu560Phe) single nucleotide variant Spastic paraplegia [RCV000804825]|not provided [RCV003442087] ChrX:153868327 [GRCh38]
ChrX:153133782 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.401-12T>C single nucleotide variant not provided [RCV000842616] ChrX:153871191 [GRCh38]
ChrX:153136646 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001278116.2(L1CAM):c.3G>A (p.Met1Ile) single nucleotide variant X-linked hydrocephalus syndrome [RCV000990984] ChrX:153875834 [GRCh38]
ChrX:153141289 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001278116.2(L1CAM):c.1823del (p.Val608fs) deletion Spastic paraplegia [RCV000813993] ChrX:153868003 [GRCh38]
ChrX:153133458 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.3081G>T (p.Ala1027=) single nucleotide variant not provided [RCV000827963] ChrX:153864670 [GRCh38]
ChrX:153130125 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001278116.2(L1CAM):c.1481G>A (p.Arg494His) single nucleotide variant Spastic paraplegia [RCV000793609] ChrX:153868626 [GRCh38]
ChrX:153134081 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001278116.2(L1CAM):c.1702_1703+14del deletion Spastic paraplegia [RCV000817263] ChrX:153868288..153868303 [GRCh38]
ChrX:153133743..153133758 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001278116.2(L1CAM):c.473G>A (p.Cys158Tyr) single nucleotide variant Spastic paraplegia [RCV000794906] ChrX:153871107 [GRCh38]
ChrX:153136562 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001278116.2(L1CAM):c.726G>A (p.Leu242=) single nucleotide variant Spastic paraplegia [RCV000862395] ChrX:153870468 [GRCh38]
ChrX:153135923 [GRCh37]
ChrX:Xq28
likely benign
NC_000023.10:g.(?_152990712)_(153650075_?)del deletion X-linked Emery-Dreifuss muscular dystrophy [RCV000823256] ChrX:152990712..153650075 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.452G>C (p.Gly151Ala) single nucleotide variant Spastic paraplegia [RCV000802209] ChrX:153871128 [GRCh38]
ChrX:153136583 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.3057T>G (p.Asp1019Glu) single nucleotide variant Spastic paraplegia [RCV001088727]|not provided [RCV000861212] ChrX:153864694 [GRCh38]
ChrX:153130149 [GRCh37]
ChrX:Xq28
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001278116.2(L1CAM):c.870C>T (p.Tyr290=) single nucleotide variant not provided [RCV000875150] ChrX:153870177 [GRCh38]
ChrX:153135632 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.1050C>T (p.Ala350=) single nucleotide variant Spastic paraplegia [RCV001510594]|not provided [RCV003432795] ChrX:153869876 [GRCh38]
ChrX:153135331 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001278116.2(L1CAM):c.2869C>A (p.Pro957Thr) single nucleotide variant Spastic paraplegia [RCV001061777] ChrX:153865091 [GRCh38]
ChrX:153130546 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq27.1-28(chrX:139586015-154774957) copy number gain Syndromic X-linked intellectual disability Lubs type [RCV003214133] ChrX:139586015..154774957 [GRCh37]
ChrX:Xq27.1-28
pathogenic
NM_001278116.2(L1CAM):c.-109+1811dup duplication X-linked hydrocephalus syndrome [RCV000990985] ChrX:153884253..153884254 [GRCh38]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.-109+95_-109+96insGCCG insertion X-linked hydrocephalus syndrome [RCV000990988] ChrX:153885969..153885970 [GRCh38]
ChrX:153151423..153151424 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:153105400-153438105)x2 copy number gain not provided [RCV000846316] ChrX:153105400..153438105 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.1894C>T (p.Arg632Cys) single nucleotide variant Spastic paraplegia [RCV000869671] ChrX:153867845 [GRCh38]
ChrX:153133300 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.604G>A (p.Asp202Asn) single nucleotide variant MASA syndrome [RCV000850499]|not provided [RCV002225750] ChrX:153870880 [GRCh38]
ChrX:153136335 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
NM_001278116.2(L1CAM):c.2593_2594del (p.His865fs) deletion not provided [RCV001008335] ChrX:153865454..153865455 [GRCh38]
ChrX:153130909..153130910 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.3448_3452delinsGGG (p.Lys1150fs) indel Spastic paraplegia [RCV001239298] ChrX:153863888..153863892 [GRCh38]
ChrX:153129343..153129347 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
NM_001278116.2(L1CAM):c.3341C>T (p.Pro1114Leu) single nucleotide variant not provided [RCV003313710] ChrX:153863999 [GRCh38]
ChrX:153129454 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.-109+238_-109+239insGG insertion X-linked hydrocephalus syndrome [RCV000990986] ChrX:153885826..153885827 [GRCh38]
ChrX:153151280..153151281 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.-109+234del deletion X-linked hydrocephalus syndrome [RCV000990987] ChrX:153885831 [GRCh38]
ChrX:153151285 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.666G>A (p.Lys222=) single nucleotide variant not provided [RCV000996049] ChrX:153870818 [GRCh38]
ChrX:153136273 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001278116.2(L1CAM):c.603C>G (p.Ser201=) single nucleotide variant not provided [RCV000996051] ChrX:153870881 [GRCh38]
ChrX:153136336 [GRCh37]
ChrX:Xq28
likely benign
NC_000023.10:g.(?_152014869)_(154563736_?)del deletion Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003122393]|Dyskeratosis congenita [RCV003105406]|not provided [RCV003105407] ChrX:152014869..154563736 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance|no classifications from unflagged records
NM_001278116.2(L1CAM):c.641C>T (p.Pro214Leu) single nucleotide variant not provided [RCV003234285] ChrX:153870843 [GRCh38]
ChrX:153136298 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.76+194C>A single nucleotide variant not provided [RCV001549564] ChrX:153875567 [GRCh38]
ChrX:153141022 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.76+225G>A single nucleotide variant not provided [RCV001550630] ChrX:153875536 [GRCh38]
ChrX:153140991 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.202C>T (p.Arg68Cys) single nucleotide variant not provided [RCV001578231] ChrX:153872350 [GRCh38]
ChrX:153137805 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_153128118)_(153664237_?)dup duplication Heterotopia, periventricular, X-linked dominant [RCV003107402] ChrX:153128118..153664237 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1103T>A (p.Ile368Asn) single nucleotide variant not provided [RCV001560492] ChrX:153869823 [GRCh38]
ChrX:153135278 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001278116.2(L1CAM):c.3457+116G>T single nucleotide variant not provided [RCV001655212] ChrX:153863767 [GRCh38]
ChrX:153129222 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.*159T>C single nucleotide variant not provided [RCV001658720] ChrX:153862504 [GRCh38]
ChrX:153127959 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.401-90T>G single nucleotide variant not provided [RCV001638382] ChrX:153871269 [GRCh38]
ChrX:153136724 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.985G>A (p.Val329Met) single nucleotide variant not provided [RCV001723326] ChrX:153870062 [GRCh38]
ChrX:153135517 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.400+285G>A single nucleotide variant not provided [RCV001620086] ChrX:153871867 [GRCh38]
ChrX:153137322 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.3457+53C>T single nucleotide variant not provided [RCV001614173] ChrX:153863830 [GRCh38]
ChrX:153129285 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.631G>A (p.Ala211Thr) single nucleotide variant not provided [RCV001558206] ChrX:153870853 [GRCh38]
ChrX:153136308 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001278116.2(L1CAM):c.197+43A>G single nucleotide variant not provided [RCV001677703] ChrX:153872549 [GRCh38]
ChrX:153138004 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.3434G>A (p.Arg1145His) single nucleotide variant Inborn genetic diseases [RCV002458543]|not provided [RCV001575713] ChrX:153863906 [GRCh38]
ChrX:153129361 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.726G>T (p.Leu242=) single nucleotide variant Spastic paraplegia [RCV002568383]|not provided [RCV001558898] ChrX:153870468 [GRCh38]
ChrX:153135923 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001278116.2(L1CAM):c.2431+322dup duplication not provided [RCV001686214] ChrX:153866312..153866313 [GRCh38]
ChrX:153131767..153131768 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.1389G>A (p.Glu463=) single nucleotide variant Spastic paraplegia [RCV001421125] ChrX:153868718 [GRCh38]
ChrX:153134173 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.1158T>C (p.Arg386=) single nucleotide variant Spastic paraplegia [RCV001439568] ChrX:153869629 [GRCh38]
ChrX:153135084 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.1444C>T (p.Leu482=) single nucleotide variant Spastic paraplegia [RCV002539986] ChrX:153868663 [GRCh38]
ChrX:153134118 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.3489T>C (p.Ser1163=) single nucleotide variant not provided [RCV000928753] ChrX:153863518 [GRCh38]
ChrX:153128973 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.1703+10G>C single nucleotide variant Spastic paraplegia [RCV002064506] ChrX:153868292 [GRCh38]
ChrX:153133747 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.1386C>T (p.Asp462=) single nucleotide variant Spastic paraplegia [RCV000865751] ChrX:153868721 [GRCh38]
ChrX:153134176 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.130C>T (p.Arg44Cys) single nucleotide variant Inborn genetic diseases [RCV002379917]|Spastic paraplegia [RCV001240369] ChrX:153872659 [GRCh38]
ChrX:153138114 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1224C>G (p.Asn408Lys) single nucleotide variant Spastic paraplegia [RCV001238051] ChrX:153869563 [GRCh38]
ChrX:153135018 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1143G>C (p.Lys381Asn) single nucleotide variant Spastic paraplegia [RCV001241860] ChrX:153869644 [GRCh38]
ChrX:153135099 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1978G>A (p.Glu660Lys) single nucleotide variant not provided [RCV001532220] ChrX:153867515 [GRCh38]
ChrX:153132970 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.2431+300_2431+311del microsatellite not provided [RCV001557754] ChrX:153866338..153866349 [GRCh38]
ChrX:153131793..153131804 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.76+232G>T single nucleotide variant not provided [RCV001577906] ChrX:153875529 [GRCh38]
ChrX:153140984 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.1900T>C (p.Ser634Pro) single nucleotide variant not provided [RCV001557952] ChrX:153867839 [GRCh38]
ChrX:153133294 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1418G>A (p.Arg473His) single nucleotide variant not provided [RCV001552314] ChrX:153868689 [GRCh38]
ChrX:153134144 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.400+156T>C single nucleotide variant not provided [RCV001553533] ChrX:153871996 [GRCh38]
ChrX:153137451 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.943G>A (p.Glu315Lys) single nucleotide variant not provided [RCV001571629] ChrX:153870104 [GRCh38]
ChrX:153135559 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.2209C>G (p.Pro737Ala) single nucleotide variant not provided [RCV003235878] ChrX:153866871 [GRCh38]
ChrX:153132326 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.2078A>T (p.Asn693Ile) single nucleotide variant not specified [RCV002469976] ChrX:153867415 [GRCh38]
ChrX:153132870 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.48del (p.Cys17fs) deletion not provided [RCV001008072] ChrX:153875789 [GRCh38]
ChrX:153141244 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.807-61G>C single nucleotide variant not provided [RCV001687582] ChrX:153870301 [GRCh38]
ChrX:153135756 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.3543-11T>C single nucleotide variant not provided [RCV001657494] ChrX:153862905 [GRCh38]
ChrX:153128360 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.2431+147C>A single nucleotide variant not provided [RCV001713736] ChrX:153866502 [GRCh38]
ChrX:153131957 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.1268-114= single nucleotide variant not provided [RCV001616465] ChrX:153869066 [GRCh38]
ChrX:153134521 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.2431+336del deletion not provided [RCV001685603] ChrX:153866313 [GRCh38]
ChrX:153131768 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.1267+101G>A single nucleotide variant not provided [RCV001653291] ChrX:153869419 [GRCh38]
ChrX:153134874 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.1939+98C>T single nucleotide variant not provided [RCV001652620] ChrX:153867702 [GRCh38]
ChrX:153133157 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.992-59G>A single nucleotide variant not provided [RCV001617321] ChrX:153869993 [GRCh38]
ChrX:153135448 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.2431+329T>C single nucleotide variant not provided [RCV001587835] ChrX:153866320 [GRCh38]
ChrX:153131775 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.3543-22C>A single nucleotide variant not provided [RCV001638202] ChrX:153862916 [GRCh38]
ChrX:153128371 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.3323-84C>T single nucleotide variant not provided [RCV001713223] ChrX:153864101 [GRCh38]
ChrX:153129556 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq28(chrX:153029046-153567369)x3 copy number gain not provided [RCV001007368] ChrX:153029046..153567369 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153023149-153345755)x2 copy number gain not provided [RCV001007367] ChrX:153023149..153345755 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001278116.2(L1CAM):c.2763C>T (p.Pro921=) single nucleotide variant Spastic paraplegia [RCV002538581]|not provided [RCV001666523] ChrX:153865197 [GRCh38]
ChrX:153130652 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.1704-18_1704-15del microsatellite Spastic paraplegia [RCV002073166]|not provided [RCV001667771] ChrX:153868137..153868140 [GRCh38]
ChrX:153133592..153133595 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.523+45G>A single nucleotide variant not provided [RCV001616541] ChrX:153871012 [GRCh38]
ChrX:153136467 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.925G>A (p.Glu309Lys) single nucleotide variant Inborn genetic diseases [RCV001266763]|L1 syndrome [RCV002239304]|Spastic paraplegia [RCV001040041]|X-linked complicated corpus callosum dysgenesis [RCV001809962]|not provided [RCV001545171] ChrX:153870122 [GRCh38]
ChrX:153135577 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_001278116.2(L1CAM):c.1268-1G>A single nucleotide variant X-linked hydrocephalus syndrome [RCV001027729] ChrX:153868953 [GRCh38]
ChrX:153134408 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.3166+1G>T single nucleotide variant Spastic paraplegia [RCV001206057] ChrX:153864584 [GRCh38]
ChrX:153130039 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NC_000023.10:g.(?_152990712)_(153650075_?)dup duplication X-linked Emery-Dreifuss muscular dystrophy [RCV001031812] ChrX:152990712..153650075 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_152954010)_(153363142_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV001033929] ChrX:152954010..153363142 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.31CTC[2] (p.Leu13del) microsatellite Spastic paraplegia [RCV001213725]|not provided [RCV001751393] ChrX:153875798..153875800 [GRCh38]
ChrX:153141253..153141255 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.3181G>T (p.Ala1061Ser) single nucleotide variant Spastic paraplegia [RCV001219669] ChrX:153864463 [GRCh38]
ChrX:153129918 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_152954010)_(153141311_?)dup duplication Creatine transporter deficiency [RCV001033780] ChrX:152954010..153141311 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:152516781-153368573)x2 copy number gain not provided [RCV001007365] ChrX:152516781..153368573 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.2559G>A (p.Trp853Ter) single nucleotide variant Spastic paraplegia [RCV001210967] ChrX:153865489 [GRCh38]
ChrX:153130944 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.401-1G>A single nucleotide variant Spastic paraplegia [RCV001228655] ChrX:153871180 [GRCh38]
ChrX:153136635 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001278116.2(L1CAM):c.3241C>T (p.Gln1081Ter) single nucleotide variant L1 syndrome [RCV001251323] ChrX:153864403 [GRCh38]
ChrX:153129858 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001278116.2(L1CAM):c.743C>A (p.Ser248Tyr) single nucleotide variant X-linked hydrocephalus syndrome [RCV001254092] ChrX:153870451 [GRCh38]
ChrX:153135906 [GRCh37]
ChrX:Xq28
likely pathogenic|likely benign
NM_001278116.2(L1CAM):c.3226A>C (p.Thr1076Pro) single nucleotide variant Intellectual disability [RCV001257682] ChrX:153864418 [GRCh38]
ChrX:153129873 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001278116.2(L1CAM):c.3016G>A (p.Val1006Ile) single nucleotide variant Inborn genetic diseases [RCV001267448]|Spastic paraplegia [RCV002542850] ChrX:153864851 [GRCh38]
ChrX:153130306 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1 copy number loss See cases [RCV002285075] ChrX:77670699..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_001278116.2(L1CAM):c.139_140del (p.Val47fs) deletion X-linked hydrocephalus syndrome [RCV001261519] ChrX:153872649..153872650 [GRCh38]
ChrX:153138104..153138105 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001278116.2(L1CAM):c.77-248G>A single nucleotide variant not provided [RCV001581289] ChrX:153873490 [GRCh38]
ChrX:153138945 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
NM_001278116.2(L1CAM):c.32_33del (p.Leu11fs) microsatellite MASA syndrome [RCV001262132] ChrX:153875804..153875805 [GRCh38]
ChrX:153141259..153141260 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_001278116.2(L1CAM):c.1222A>G (p.Asn408Asp) single nucleotide variant MASA syndrome [RCV001260986] ChrX:153869565 [GRCh38]
ChrX:153135020 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001278116.2(L1CAM):c.3754C>T (p.Pro1252Ser) single nucleotide variant X-linked complicated corpus callosum dysgenesis [RCV001332430] ChrX:153862683 [GRCh38]
ChrX:153128138 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.2599C>T (p.His867Tyr) single nucleotide variant MASA syndrome [RCV001332432] ChrX:153865449 [GRCh38]
ChrX:153130904 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.3095G>A (p.Ser1032Asn) single nucleotide variant Spastic paraplegia [RCV002568231]|not provided [RCV001536295] ChrX:153864656 [GRCh38]
ChrX:153130111 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:153113943-153624215)x2 copy number gain not provided [RCV001260058] ChrX:153113943..153624215 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153135257-153594096)x3 copy number gain not provided [RCV001260059] ChrX:153135257..153594096 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:152631130-153240286)x3 copy number gain not provided [RCV001260062] ChrX:152631130..153240286 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.3774G>T (p.Ter1258Tyr) single nucleotide variant Inborn genetic diseases [RCV001265999] ChrX:153862663 [GRCh38]
ChrX:153128118 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.524-2A>G single nucleotide variant Inborn genetic diseases [RCV001266175] ChrX:153870962 [GRCh38]
ChrX:153136417 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001278116.2(L1CAM):c.3458-5T>G single nucleotide variant Intellectual disability [RCV001257681] ChrX:153863554 [GRCh38]
ChrX:153129009 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_153136492)_(153138172_?)del deletion Spastic paraplegia [RCV001327817] ChrX:153136492..153138172 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1180G>A (p.Val394Met) single nucleotide variant not provided [RCV001310753] ChrX:153869607 [GRCh38]
ChrX:153135062 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.807-7C>T single nucleotide variant Spastic paraplegia [RCV001422360] ChrX:153870247 [GRCh38]
ChrX:153135702 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.3710C>T (p.Ala1237Val) single nucleotide variant Inborn genetic diseases [RCV002350670]|Spastic paraplegia [RCV002070235]|not provided [RCV001357794] ChrX:153862727 [GRCh38]
ChrX:153128182 [GRCh37]
ChrX:Xq28
benign|likely benign
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NC_000023.11:g.153859456A>G single nucleotide variant not provided [RCV001354276] ChrX:153859456 [GRCh38]
ChrX:153124911 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq28(chrX:153858452-154332213)x2 copy number gain Chromosome Xq28 duplication syndrome [RCV001375670] ChrX:153858452..154332213 [GRCh38]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.176C>T (p.Ala59Val) single nucleotide variant Spastic paraplegia [RCV001372486] ChrX:153872613 [GRCh38]
ChrX:153138068 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:152228560-153146794)x2 copy number gain Autism [RCV002284318] ChrX:152228560..153146794 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.649A>G (p.Arg217Gly) single nucleotide variant MASA syndrome [RCV001290966] ChrX:153870835 [GRCh38]
ChrX:153136290 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001278116.2(L1CAM):c.3589G>A (p.Gly1197Arg) single nucleotide variant MASA syndrome [RCV001270392]|Spastic paraplegia [RCV002541647] ChrX:153862848 [GRCh38]
ChrX:153128303 [GRCh37]
ChrX:Xq28
uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV001391666] ChrX:153128098..153498669 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.3500C>T (p.Pro1167Leu) single nucleotide variant not provided [RCV001310752] ChrX:153863507 [GRCh38]
ChrX:153128962 [GRCh37]
ChrX:Xq28
conflicting interpretations of pathogenicity|uncertain significance
NM_001278116.2(L1CAM):c.2258_2263dup (p.Gln753_Trp754dup) duplication Spastic paraplegia [RCV001306307] ChrX:153866816..153866817 [GRCh38]
ChrX:153132271..153132272 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001278116.2(L1CAM):c.882C>T (p.Asn294=) single nucleotide variant Spastic paraplegia [RCV001404569] ChrX:153870165 [GRCh38]
ChrX:153135620 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.2274G>C (p.Gly758=) single nucleotide variant Spastic paraplegia [RCV001470231] ChrX:153866806 [GRCh38]
ChrX:153132261 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.1704-5C>T single nucleotide variant Spastic paraplegia [RCV001451941] ChrX:153868127 [GRCh38]
ChrX:153133582 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.2105C>T (p.Pro702Leu) single nucleotide variant Spastic paraplegia [RCV001523623]|not provided [RCV002070291] ChrX:153867388 [GRCh38]
ChrX:153132843 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001278116.2(L1CAM):c.798C>T (p.Ala266=) single nucleotide variant Spastic paraplegia [RCV001517298]|not provided [RCV003434305] ChrX:153870396 [GRCh38]
ChrX:153135851 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001278116.2(L1CAM):c.3531-12G>A single nucleotide variant Spastic paraplegia [RCV002570843]|not provided [RCV001581822] ChrX:153863391 [GRCh38]
ChrX:153128846 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.990G>A (p.Glu330=) single nucleotide variant Spastic paraplegia [RCV001412119] ChrX:153870057 [GRCh38]
ChrX:153135512 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.2822C>T (p.Pro941Leu) single nucleotide variant Spastic paraplegia [RCV001388276] ChrX:153865138 [GRCh38]
ChrX:153130593 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.2701C>T (p.Arg901Ter) single nucleotide variant Spastic paraplegia [RCV001388277]|not provided [RCV003322891] ChrX:153865347 [GRCh38]
ChrX:153130802 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.558G>C (p.Thr186=) single nucleotide variant Spastic paraplegia [RCV001431012] ChrX:153870926 [GRCh38]
ChrX:153136381 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.2654T>A (p.Leu885Ter) single nucleotide variant Spastic paraplegia [RCV001385394] ChrX:153865394 [GRCh38]
ChrX:153130849 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153129318)_(153131294_?)del deletion Spastic paraplegia [RCV001389112] ChrX:153129318..153131294 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.3774G>A (p.Ter1258=) single nucleotide variant Spastic paraplegia [RCV001436934] ChrX:153862663 [GRCh38]
ChrX:153128118 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.1413C>T (p.Asp471=) single nucleotide variant Spastic paraplegia [RCV001419739] ChrX:153868694 [GRCh38]
ChrX:153134149 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.3178G>A (p.Gly1060Arg) single nucleotide variant Spastic paraplegia [RCV001509674] ChrX:153864466 [GRCh38]
ChrX:153129921 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.3323-8A>C single nucleotide variant Spastic paraplegia [RCV001451073] ChrX:153864025 [GRCh38]
ChrX:153129480 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.2553G>A (p.Thr851=) single nucleotide variant Spastic paraplegia [RCV001515696] ChrX:153865495 [GRCh38]
ChrX:153130950 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.*203G>C single nucleotide variant not provided [RCV001588446] ChrX:153862460 [GRCh38]
ChrX:153127915 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.1547-14C>T single nucleotide variant Spastic paraplegia [RCV002539719]|not provided [RCV001709997] ChrX:153868472 [GRCh38]
ChrX:153133927 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.694+55G>A single nucleotide variant not provided [RCV001684400] ChrX:153870735 [GRCh38]
ChrX:153136190 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.92-180C>T single nucleotide variant not provided [RCV001615724] ChrX:153872877 [GRCh38]
ChrX:153138332 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.2432-86G>A single nucleotide variant not provided [RCV001698729] ChrX:153865905 [GRCh38]
ChrX:153131360 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.2310C>T (p.Asp770=) single nucleotide variant not provided [RCV001694559] ChrX:153866770 [GRCh38]
ChrX:153132225 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.718_775delinsACATTGACAG (p.Pro240_Pro259delinsThrLeuThrAla) indel not specified [RCV001582400] ChrX:153870419..153870476 [GRCh38]
ChrX:153135874..153135931 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.2500C>T (p.Arg834Trp) single nucleotide variant Spastic paraplegia [RCV001523196] ChrX:153865751 [GRCh38]
ChrX:153131206 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.401-89A>G single nucleotide variant not provided [RCV001687391] ChrX:153871268 [GRCh38]
ChrX:153136723 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.1863C>T (p.Ser621=) single nucleotide variant Inborn genetic diseases [RCV002414106]|Spastic paraplegia [RCV001461181] ChrX:153867876 [GRCh38]
ChrX:153133331 [GRCh37]
ChrX:Xq28
likely benign
GRCh38/hg38 Xq28(chrX:153905292-154361918) copy number gain Syndromic X-linked intellectual disability Lubs type [RCV000012611] ChrX:153905292..154361918 [GRCh38]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.3628G>A (p.Asp1210Asn) single nucleotide variant Spastic paraplegia [RCV001519680] ChrX:153862809 [GRCh38]
ChrX:153128264 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.950C>T (p.Ser317Leu) single nucleotide variant Spastic paraplegia [RCV001523467] ChrX:153870097 [GRCh38]
ChrX:153135552 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.267G>T (p.Ser89=) single nucleotide variant Spastic paraplegia [RCV001443624] ChrX:153872285 [GRCh38]
ChrX:153137740 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.1972G>A (p.Ala658Thr) single nucleotide variant not provided [RCV001725836] ChrX:153867521 [GRCh38]
ChrX:153132976 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1546+6G>A single nucleotide variant not provided [RCV001725837] ChrX:153868555 [GRCh38]
ChrX:153134010 [GRCh37]
ChrX:Xq28
likely benign
NC_000023.10:g.(?_152014869)_(155171615_?)del deletion 3-Methylglutaconic aciduria type 2 [RCV003119101]|Adrenoleukodystrophy [RCV003119100]|Creatine transporter deficiency [RCV003119103]|Heterotopia, periventricular, X-linked dominant [RCV003109218]|Spastic paraplegia [RCV003109219]|X-linked Emery-Dreifuss muscular dystrophy [RCV003119102] ChrX:152014869..155171615 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_152014869)_(153363122_?)dup duplication Adrenoleukodystrophy [RCV003119105]|not provided [RCV003109220] ChrX:152014869..153363122 [GRCh37]
ChrX:Xq28
uncertain significance|no classifications from unflagged records
NM_001278116.2(L1CAM):c.2260T>A (p.Trp754Arg) single nucleotide variant not provided [RCV001756554] ChrX:153866820 [GRCh38]
ChrX:153132275 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1429del (p.Tyr477fs) deletion not provided [RCV001782361] ChrX:153868678 [GRCh38]
ChrX:153134133 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001278116.2(L1CAM):c.574_582dup (p.Tyr194_Phe195insAsnLeuTyr) duplication X-linked hydrocephalus syndrome [RCV002272933] ChrX:153870901..153870902 [GRCh38]
ChrX:153136356..153136357 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:152372767-155233731) copy number gain Chromosome Xq28 duplication syndrome [RCV002280621]|Syndromic X-linked intellectual disability Lubs type [RCV002280620] ChrX:152372767..155233731 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.3322+11G>A single nucleotide variant See cases [RCV002252515]|not specified [RCV002307851] ChrX:153864311 [GRCh38]
ChrX:153129766 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1475C>T (p.Thr492Ile) single nucleotide variant Inborn genetic diseases [RCV002540423]|not provided [RCV001758791] ChrX:153868632 [GRCh38]
ChrX:153134087 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.3587A>G (p.Asn1196Ser) single nucleotide variant not provided [RCV001751811] ChrX:153862850 [GRCh38]
ChrX:153128305 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.2758C>T (p.His920Tyr) single nucleotide variant not provided [RCV001751952] ChrX:153865202 [GRCh38]
ChrX:153130657 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1841C>T (p.Pro614Leu) single nucleotide variant Spastic paraplegia [RCV002540368]|not provided [RCV001765350] ChrX:153867898 [GRCh38]
ChrX:153133353 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001278116.2(L1CAM):c.1633C>T (p.Pro545Ser) single nucleotide variant not provided [RCV001767682] ChrX:153868372 [GRCh38]
ChrX:153133827 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1894C>G (p.Arg632Gly) single nucleotide variant Spastic paraplegia [RCV002544019]|not provided [RCV001772460] ChrX:153867845 [GRCh38]
ChrX:153133300 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.3140T>C (p.Phe1047Ser) single nucleotide variant not provided [RCV001754464] ChrX:153864611 [GRCh38]
ChrX:153130066 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.769G>A (p.Gly257Arg) single nucleotide variant not provided [RCV001772784] ChrX:153870425 [GRCh38]
ChrX:153135880 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.3118G>A (p.Glu1040Lys) single nucleotide variant MASA syndrome [RCV002488524]|not provided [RCV001764761] ChrX:153864633 [GRCh38]
ChrX:153130088 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.2234C>T (p.Ala745Val) single nucleotide variant not provided [RCV001752080] ChrX:153866846 [GRCh38]
ChrX:153132301 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.3476C>T (p.Thr1159Ile) single nucleotide variant not provided [RCV001768589] ChrX:153863531 [GRCh38]
ChrX:153128986 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.2539G>A (p.Gly847Arg) single nucleotide variant not provided [RCV001768611] ChrX:153865712 [GRCh38]
ChrX:153131167 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.2516_2517delinsAT (p.Ala839Asp) indel MASA syndrome [RCV002506781]|not provided [RCV001767779] ChrX:153865734..153865735 [GRCh38]
ChrX:153131189..153131190 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.457T>A (p.Ser153Thr) single nucleotide variant not provided [RCV001767818] ChrX:153871123 [GRCh38]
ChrX:153136578 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1292C>A (p.Ala431Glu) single nucleotide variant not provided [RCV001765632] ChrX:153868928 [GRCh38]
ChrX:153134383 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.2416T>C (p.Tyr806His) single nucleotide variant not provided [RCV001768722] ChrX:153866664 [GRCh38]
ChrX:153132119 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.2179G>A (p.Glu727Lys) single nucleotide variant not provided [RCV001774381] ChrX:153867083 [GRCh38]
ChrX:153132538 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.2978T>C (p.Leu993Pro) single nucleotide variant not provided [RCV001758026] ChrX:153864889 [GRCh38]
ChrX:153130344 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.2249A>G (p.Tyr750Cys) single nucleotide variant not provided [RCV001774455] ChrX:153866831 [GRCh38]
ChrX:153132286 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1120G>T (p.Glu374Ter) single nucleotide variant not provided [RCV001782360] ChrX:153869806 [GRCh38]
ChrX:153135261 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001278116.2(L1CAM):c.76+4A>T single nucleotide variant not provided [RCV001754335] ChrX:153875757 [GRCh38]
ChrX:153141212 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.3449A>G (p.Lys1150Arg) single nucleotide variant not provided [RCV001761303] ChrX:153863891 [GRCh38]
ChrX:153129346 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number gain 46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001278116.2(L1CAM):c.1786G>A (p.Glu596Lys) single nucleotide variant Spastic paraplegia [RCV001963810] ChrX:153868040 [GRCh38]
ChrX:153133495 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001278116.2(L1CAM):c.255C>T (p.Thr85=) single nucleotide variant Spastic paraplegia [RCV002542010]|not specified [RCV001819158] ChrX:153872297 [GRCh38]
ChrX:153137752 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001278116.2(L1CAM):c.2920G>T (p.Glu974Ter) single nucleotide variant X-linked complicated corpus callosum dysgenesis [RCV001824277] ChrX:153864947 [GRCh38]
ChrX:153130402 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.616del (p.Asp206fs) deletion Spastic paraplegia [RCV001864298] ChrX:153870868 [GRCh38]
ChrX:153136323 [GRCh37]
ChrX:Xq28
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV001839062] ChrX:140888048..154656872 [GRCh38]
ChrX:Xq27.1-28
pathogenic
NM_001278116.2(L1CAM):c.791G>T (p.Cys264Phe) single nucleotide variant Spastic paraplegia [RCV001914751] ChrX:153870403 [GRCh38]
ChrX:153135858 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.2413G>C (p.Gly805Arg) single nucleotide variant Hereditary spastic paraplegia [RCV001848533] ChrX:153866667 [GRCh38]
ChrX:153132122 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.2562G>T (p.Arg854Ser) single nucleotide variant Inborn genetic diseases [RCV002425340]|Spastic paraplegia [RCV001970432] ChrX:153865486 [GRCh38]
ChrX:153130941 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.3000C>T (p.Gly1000=) single nucleotide variant Hereditary spastic paraplegia [RCV001848536]|not provided [RCV003434331] ChrX:153864867 [GRCh38]
ChrX:153130322 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001278116.2(L1CAM):c.644_648dup (p.Arg217fs) duplication Spastic paraplegia [RCV001967213] ChrX:153870835..153870836 [GRCh38]
ChrX:153136290..153136291 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:152740984-153431748)x2 copy number gain not provided [RCV001829153] ChrX:152740984..153431748 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:152970475-153524157) copy number gain not specified [RCV002053204] ChrX:152970475..153524157 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153105394-153421839) copy number gain not specified [RCV002053207] ChrX:153105394..153421839 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.3591G>A (p.Gly1197=) single nucleotide variant Spastic paraplegia [RCV001966125] ChrX:153862846 [GRCh38]
ChrX:153128301 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.66C>G (p.Ile22Met) single nucleotide variant Spastic paraplegia [RCV002006734] ChrX:153875771 [GRCh38]
ChrX:153141226 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:153093501-153792322)x2 copy number gain not provided [RCV001834439] ChrX:153093501..153792322 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV001834509] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001278116.2(L1CAM):c.292A>G (p.Thr98Ala) single nucleotide variant not specified [RCV001844497] ChrX:153872260 [GRCh38]
ChrX:153137715 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:153135263-153594168) copy number gain not specified [RCV002053209] ChrX:153135263..153594168 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.*383C>T single nucleotide variant Hereditary spastic paraplegia [RCV001848528] ChrX:153862280 [GRCh38]
ChrX:153127735 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.1147C>T (p.Arg383Trp) single nucleotide variant Hereditary spastic paraplegia [RCV001848529] ChrX:153869640 [GRCh38]
ChrX:153135095 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.198-8G>A single nucleotide variant Hereditary spastic paraplegia [RCV001848530] ChrX:153872362 [GRCh38]
ChrX:153137817 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001278116.2(L1CAM):c.198-9C>T single nucleotide variant Hereditary spastic paraplegia [RCV001848531]|Spastic paraplegia [RCV002545275] ChrX:153872363 [GRCh38]
ChrX:153137818 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001278116.2(L1CAM):c.2988C>T (p.Thr996=) single nucleotide variant Hereditary spastic paraplegia [RCV001848534] ChrX:153864879 [GRCh38]
ChrX:153130334 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001278116.2(L1CAM):c.3169G>A (p.Glu1057Lys) single nucleotide variant Hereditary spastic paraplegia [RCV001848537] ChrX:153864475 [GRCh38]
ChrX:153129930 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.644G>A (p.Gly215Asp) single nucleotide variant Hereditary spastic paraplegia [RCV001848539] ChrX:153870840 [GRCh38]
ChrX:153136295 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.3046+1G>A single nucleotide variant X-linked hydrocephalus syndrome [RCV001848629] ChrX:153864820 [GRCh38]
ChrX:153130275 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.1225C>T (p.Arg409Trp) single nucleotide variant Spastic paraplegia [RCV002044090] ChrX:153869562 [GRCh38]
ChrX:153135017 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.3234G>A (p.Trp1078Ter) single nucleotide variant MASA syndrome [RCV001843717] ChrX:153864410 [GRCh38]
ChrX:153129865 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.(?_152986307)_(153593345_?)dup duplication Heterotopia, periventricular, X-linked dominant [RCV001967054] ChrX:152986307..153593345 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.401-7C>G single nucleotide variant Hereditary spastic paraplegia [RCV001848538] ChrX:153871186 [GRCh38]
ChrX:153136641 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.2584A>G (p.Ser862Gly) single nucleotide variant Spastic paraplegia [RCV001892099] ChrX:153865464 [GRCh38]
ChrX:153130919 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.2209-9C>T single nucleotide variant Hereditary spastic paraplegia [RCV001848532]|Spastic paraplegia [RCV002543409] ChrX:153866880 [GRCh38]
ChrX:153132335 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
GRCh37/hg19 Xq28(chrX:153113943-153624020) copy number gain not specified [RCV002053208] ChrX:153113943..153624020 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.1940-1G>A single nucleotide variant Spastic paraplegia [RCV002017926] ChrX:153867554 [GRCh38]
ChrX:153133009 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001278116.2(L1CAM):c.1913C>A (p.Ala638Glu) single nucleotide variant Spastic paraplegia [RCV001942458] ChrX:153867826 [GRCh38]
ChrX:153133281 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.2813G>A (p.Trp938Ter) single nucleotide variant Spastic paraplegia [RCV001904362] ChrX:153865147 [GRCh38]
ChrX:153130602 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.2999G>A (p.Gly1000Asp) single nucleotide variant Spastic paraplegia [RCV001886863] ChrX:153864868 [GRCh38]
ChrX:153130323 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.3257A>C (p.Tyr1086Ser) single nucleotide variant Spastic paraplegia [RCV001977914] ChrX:153864387 [GRCh38]
ChrX:153129842 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1040G>A (p.Gly347Glu) single nucleotide variant Spastic paraplegia [RCV002028541] ChrX:153869886 [GRCh38]
ChrX:153135341 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.3734G>A (p.Gly1245Glu) single nucleotide variant Spastic paraplegia [RCV002045976] ChrX:153862703 [GRCh38]
ChrX:153128158 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_152482081)_(153416424_?)del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001953905] ChrX:152482081..153416424 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.2459G>A (p.Gly820Asp) single nucleotide variant Spastic paraplegia [RCV001932118] ChrX:153865792 [GRCh38]
ChrX:153131247 [GRCh37]
ChrX:Xq28
benign|uncertain significance
NM_001278116.2(L1CAM):c.2541A>G (p.Gly847=) single nucleotide variant Spastic paraplegia [RCV002046746] ChrX:153865710 [GRCh38]
ChrX:153131165 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.809C>T (p.Pro270Leu) single nucleotide variant Spastic paraplegia [RCV001937109] ChrX:153870238 [GRCh38]
ChrX:153135693 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.2674C>G (p.His892Asp) single nucleotide variant Spastic paraplegia [RCV001907469] ChrX:153865374 [GRCh38]
ChrX:153130829 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.2243T>C (p.Val748Ala) single nucleotide variant Spastic paraplegia [RCV001923741] ChrX:153866837 [GRCh38]
ChrX:153132292 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001278116.2(L1CAM):c.992-20G>A single nucleotide variant Spastic paraplegia [RCV001906366] ChrX:153869954 [GRCh38]
ChrX:153135409 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001278116.2(L1CAM):c.774G>C (p.Gln258His) single nucleotide variant Spastic paraplegia [RCV001940501] ChrX:153870420 [GRCh38]
ChrX:153135875 [GRCh37]
ChrX:Xq28
benign|uncertain significance
NM_001278116.2(L1CAM):c.2722G>A (p.Glu908Lys) single nucleotide variant not provided [RCV002034808] ChrX:153865326 [GRCh38]
ChrX:153130781 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.203G>T (p.Arg68Leu) single nucleotide variant Spastic paraplegia [RCV001905603] ChrX:153872349 [GRCh38]
ChrX:153137804 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1703+1G>A single nucleotide variant Spastic paraplegia [RCV002036511] ChrX:153868301 [GRCh38]
ChrX:153133756 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001278116.2(L1CAM):c.1781G>A (p.Ser594Asn) single nucleotide variant Spastic paraplegia [RCV002088953] ChrX:153868045 [GRCh38]
ChrX:153133500 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.1704-4G>A single nucleotide variant Spastic paraplegia [RCV002146988] ChrX:153868126 [GRCh38]
ChrX:153133581 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.3531-13C>T single nucleotide variant Spastic paraplegia [RCV002112441] ChrX:153863392 [GRCh38]
ChrX:153128847 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.570C>T (p.Asn190=) single nucleotide variant Inborn genetic diseases [RCV002346447]|Spastic paraplegia [RCV002125001] ChrX:153870914 [GRCh38]
ChrX:153136369 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001278116.2(L1CAM):c.510C>T (p.Tyr170=) single nucleotide variant Spastic paraplegia [RCV002191041] ChrX:153871070 [GRCh38]
ChrX:153136525 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.2565G>T (p.Glu855Asp) single nucleotide variant Spastic paraplegia [RCV002127129] ChrX:153865483 [GRCh38]
ChrX:153130938 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.1124-10G>C single nucleotide variant Spastic paraplegia [RCV002208989] ChrX:153869673 [GRCh38]
ChrX:153135128 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.942C>T (p.Ala314=) single nucleotide variant Spastic paraplegia [RCV002110576] ChrX:153870105 [GRCh38]
ChrX:153135560 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.806+14C>A single nucleotide variant Spastic paraplegia [RCV002111098] ChrX:153870374 [GRCh38]
ChrX:153135829 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.3542+13C>T single nucleotide variant Spastic paraplegia [RCV002185273] ChrX:153863355 [GRCh38]
ChrX:153128810 [GRCh37]
ChrX:Xq28
benign
Single allele deletion Immunodeficiency 33 [RCV002247742]|Splenomegaly [RCV002247743] ChrX:153427468..156004919 [GRCh38]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.3046+20T>A single nucleotide variant Spastic paraplegia [RCV002111862] ChrX:153864801 [GRCh38]
ChrX:153130256 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.651G>A (p.Arg217=) single nucleotide variant Spastic paraplegia [RCV002089884] ChrX:153870833 [GRCh38]
ChrX:153136288 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.1547-18C>T single nucleotide variant Spastic paraplegia [RCV002190242]|not provided [RCV002264454] ChrX:153868476 [GRCh38]
ChrX:153133931 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001278116.2(L1CAM):c.3290G>A (p.Arg1097Gln) single nucleotide variant Spastic paraplegia [RCV002174160] ChrX:153864354 [GRCh38]
ChrX:153129809 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.2412C>T (p.Ile804=) single nucleotide variant Inborn genetic diseases [RCV002443190]|Spastic paraplegia [RCV002127277] ChrX:153866668 [GRCh38]
ChrX:153132123 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001278116.2(L1CAM):c.695-8C>T single nucleotide variant Spastic paraplegia [RCV002094997] ChrX:153870507 [GRCh38]
ChrX:153135962 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.695-10C>T single nucleotide variant Spastic paraplegia [RCV002097318] ChrX:153870509 [GRCh38]
ChrX:153135964 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.806+18G>A single nucleotide variant Spastic paraplegia [RCV002205197] ChrX:153870370 [GRCh38]
ChrX:153135825 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.1673G>A (p.Arg558Gln) single nucleotide variant Spastic paraplegia [RCV002132394] ChrX:153868332 [GRCh38]
ChrX:153133787 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.3322+7C>G single nucleotide variant Spastic paraplegia [RCV002212494] ChrX:153864315 [GRCh38]
ChrX:153129770 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.999G>T (p.Pro333=) single nucleotide variant Spastic paraplegia [RCV002116677] ChrX:153869927 [GRCh38]
ChrX:153135382 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.3267C>T (p.His1089=) single nucleotide variant Spastic paraplegia [RCV002150739] ChrX:153864377 [GRCh38]
ChrX:153129832 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.1842G>A (p.Pro614=) single nucleotide variant Spastic paraplegia [RCV002133085]|not provided [RCV003434440] ChrX:153867897 [GRCh38]
ChrX:153133352 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.3047-20G>A single nucleotide variant Spastic paraplegia [RCV002169796] ChrX:153864724 [GRCh38]
ChrX:153130179 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.2340C>T (p.Thr780=) single nucleotide variant Spastic paraplegia [RCV002081057] ChrX:153866740 [GRCh38]
ChrX:153132195 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.1670G>C (p.Gly557Ala) single nucleotide variant Spastic paraplegia [RCV002185498] ChrX:153868335 [GRCh38]
ChrX:153133790 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.524-7C>T single nucleotide variant Spastic paraplegia [RCV002153360] ChrX:153870967 [GRCh38]
ChrX:153136422 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.807-16T>G single nucleotide variant Spastic paraplegia [RCV002079018] ChrX:153870256 [GRCh38]
ChrX:153135711 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.2709G>C (p.Ser903=) single nucleotide variant Spastic paraplegia [RCV002147057] ChrX:153865339 [GRCh38]
ChrX:153130794 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.3238C>T (p.Leu1080=) single nucleotide variant Spastic paraplegia [RCV002078708] ChrX:153864406 [GRCh38]
ChrX:153129861 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.1828+5G>A single nucleotide variant not provided [RCV002214558] ChrX:153867993 [GRCh38]
ChrX:153133448 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001278116.2(L1CAM):c.1379+12G>A single nucleotide variant Spastic paraplegia [RCV002152695] ChrX:153868829 [GRCh38]
ChrX:153134284 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.524-20G>A single nucleotide variant Spastic paraplegia [RCV002124785] ChrX:153870980 [GRCh38]
ChrX:153136435 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.2596_2597del (p.Ile866fs) microsatellite MASA syndrome [RCV002086744] ChrX:153865451..153865452 [GRCh38]
ChrX:153130906..153130907 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001278116.2(L1CAM):c.2536C>T (p.Arg846Cys) single nucleotide variant Spastic paraplegia [RCV002132458] ChrX:153865715 [GRCh38]
ChrX:153131170 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.1162G>A (p.Ala388Thr) single nucleotide variant Spastic paraplegia [RCV002146450] ChrX:153869625 [GRCh38]
ChrX:153135080 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.3457+15C>T single nucleotide variant Spastic paraplegia [RCV002171353] ChrX:153863868 [GRCh38]
ChrX:153129323 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.3322+12G>A single nucleotide variant Spastic paraplegia [RCV002076572] ChrX:153864310 [GRCh38]
ChrX:153129765 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.3375C>T (p.Gly1125=) single nucleotide variant Spastic paraplegia [RCV002094535] ChrX:153863965 [GRCh38]
ChrX:153129420 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.436G>A (p.Val146Met) single nucleotide variant L1CAM-related condition [RCV003418383]|Spastic paraplegia [RCV002132104] ChrX:153871144 [GRCh38]
ChrX:153136599 [GRCh37]
ChrX:Xq28
benign|uncertain significance
NM_001278116.2(L1CAM):c.400+10G>A single nucleotide variant Spastic paraplegia [RCV002173856] ChrX:153872142 [GRCh38]
ChrX:153137597 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.2715C>T (p.Pro905=) single nucleotide variant Spastic paraplegia [RCV002088995] ChrX:153865333 [GRCh38]
ChrX:153130788 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.3702G>A (p.Glu1234=) single nucleotide variant Spastic paraplegia [RCV002082966] ChrX:153862735 [GRCh38]
ChrX:153128190 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.1703+14C>T single nucleotide variant Spastic paraplegia [RCV002175856] ChrX:153868288 [GRCh38]
ChrX:153133743 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.694+20_694+32del deletion Spastic paraplegia [RCV002177692] ChrX:153870758..153870770 [GRCh38]
ChrX:153136213..153136225 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.721C>T (p.Arg241Cys) single nucleotide variant Spastic paraplegia [RCV002121879] ChrX:153870473 [GRCh38]
ChrX:153135928 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.2749+18C>T single nucleotide variant Spastic paraplegia [RCV002098478] ChrX:153865281 [GRCh38]
ChrX:153130736 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.1261G>A (p.Val421Ile) single nucleotide variant Spastic paraplegia [RCV002122139]|not provided [RCV003434415] ChrX:153869526 [GRCh38]
ChrX:153134981 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001278116.2(L1CAM):c.3531-12G>C single nucleotide variant Spastic paraplegia [RCV002140358] ChrX:153863391 [GRCh38]
ChrX:153128846 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.2057C>A (p.Thr686Asn) single nucleotide variant Spastic paraplegia [RCV002103218] ChrX:153867436 [GRCh38]
ChrX:153132891 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.523+13G>A single nucleotide variant Spastic paraplegia [RCV002220397] ChrX:153871044 [GRCh38]
ChrX:153136499 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.1379+8T>C single nucleotide variant Spastic paraplegia [RCV002117942] ChrX:153868833 [GRCh38]
ChrX:153134288 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.33C>G (p.Leu11=) single nucleotide variant Spastic paraplegia [RCV002139834] ChrX:153875804 [GRCh38]
ChrX:153141259 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.3441G>A (p.Lys1147=) single nucleotide variant Spastic paraplegia [RCV002220979] ChrX:153863899 [GRCh38]
ChrX:153129354 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.3588C>A (p.Asn1196Lys) single nucleotide variant Spastic paraplegia [RCV002183621] ChrX:153862849 [GRCh38]
ChrX:153128304 [GRCh37]
ChrX:Xq28
likely benign
NC_000023.10:g.(?_152954030)_(153283591_?)dup duplication Spastic paraplegia [RCV003111187]|not provided [RCV003111188] ChrX:152954030..153283591 [GRCh37]
ChrX:Xq28
uncertain significance|no classifications from unflagged records
NC_000023.10:g.(?_153135069)_(153135421_?)del deletion Spastic paraplegia [RCV003111189] ChrX:153135069..153135421 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153001546)_(154563736_?)dup duplication Adrenoleukodystrophy [RCV003119108] ChrX:153001546..154563736 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.2748A>T (p.Gly916=) single nucleotide variant not provided [RCV003152207] ChrX:153865300 [GRCh38]
ChrX:153130755 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.898C>G (p.Leu300Val) single nucleotide variant Cerebellar ataxia [RCV002244238] ChrX:153870149 [GRCh38]
ChrX:153135604 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.2603_2604del (p.Lys868fs) deletion not provided [RCV002227710] ChrX:153865444..153865445 [GRCh38]
ChrX:153130899..153130900 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001278116.2(L1CAM):c.400+55G>A single nucleotide variant not provided [RCV002244606] ChrX:153872097 [GRCh38]
ChrX:153137552 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.1310T>C (p.Met437Thr) single nucleotide variant not provided [RCV003131412] ChrX:153868910 [GRCh38]
ChrX:153134365 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1156C>T (p.Arg386Cys) single nucleotide variant See cases [RCV002253181] ChrX:153869631 [GRCh38]
ChrX:153135086 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:152815772-153624215) copy number gain Global developmental delay [RCV002280663] ChrX:152815772..153624215 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.2593C>T (p.His865Tyr) single nucleotide variant not provided [RCV003131413] ChrX:153865455 [GRCh38]
ChrX:153130910 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001278116.2(L1CAM):c.3671C>T (p.Ser1224Leu) single nucleotide variant L1CAM-related condition [RCV003418432]|not provided [RCV002269408] ChrX:153862766 [GRCh38]
ChrX:153128221 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731) copy number loss Turner syndrome [RCV002280672] ChrX:62685885..155233731 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 copy number loss See cases [RCV002286357] ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 copy number gain Klinefelter syndrome [RCV002282732] ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001278116.2(L1CAM):c.3550G>A (p.Glu1184Lys) single nucleotide variant not provided [RCV002261666] ChrX:153862887 [GRCh38]
ChrX:153128342 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.2857C>G (p.Leu953Val) single nucleotide variant Inborn genetic diseases [RCV002435427] ChrX:153865103 [GRCh38]
ChrX:153130558 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1565_1566del (p.Gln522fs) deletion X-linked hydrocephalus syndrome [RCV002291801] ChrX:153868439..153868440 [GRCh38]
ChrX:153133894..153133895 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq27.3-28(chrX:142401540-155233731)x1 copy number loss See cases [RCV002292203] ChrX:142401540..155233731 [GRCh37]
ChrX:Xq27.3-28
pathogenic
NM_001278116.2(L1CAM):c.407C>T (p.Pro136Leu) single nucleotide variant not provided [RCV002283233] ChrX:153871173 [GRCh38]
ChrX:153136628 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.3755C>A (p.Pro1252His) single nucleotide variant MASA syndrome [RCV002272817] ChrX:153862682 [GRCh38]
ChrX:153128137 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.2399C>A (p.Pro800His) single nucleotide variant X-linked hydrocephalus syndrome [RCV002274447] ChrX:153866681 [GRCh38]
ChrX:153132136 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001278116.2(L1CAM):c.2296C>T (p.Gln766Ter) single nucleotide variant X-linked hydrocephalus syndrome [RCV002291800] ChrX:153866784 [GRCh38]
ChrX:153132239 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.2269C>T (p.Gln757Ter) single nucleotide variant L1 syndrome [RCV002281879] ChrX:153866811 [GRCh38]
ChrX:153132266 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001278116.2(L1CAM):c.3182C>A (p.Ala1061Asp) single nucleotide variant not provided [RCV002293747] ChrX:153864462 [GRCh38]
ChrX:153129917 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.3530+2T>C single nucleotide variant X-linked complicated corpus callosum dysgenesis [RCV002290196] ChrX:153863475 [GRCh38]
ChrX:153128930 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001278116.2(L1CAM):c.3627C>T (p.Ala1209=) single nucleotide variant Inborn genetic diseases [RCV002452334] ChrX:153862810 [GRCh38]
ChrX:153128265 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.2750-6C>T single nucleotide variant not specified [RCV002282824] ChrX:153865216 [GRCh38]
ChrX:153130671 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.2376C>G (p.Asn792Lys) single nucleotide variant X-linked hydrocephalus syndrome [RCV002291802] ChrX:153866704 [GRCh38]
ChrX:153132159 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001278116.2(L1CAM):c.2607C>A (p.Asp869Glu) single nucleotide variant Inborn genetic diseases [RCV002437150]|Spastic paraplegia [RCV003102023]|not provided [RCV003481309] ChrX:153865441 [GRCh38]
ChrX:153130896 [GRCh37]
ChrX:Xq28
benign|uncertain significance
NM_001278116.2(L1CAM):c.669A>G (p.Glu223=) single nucleotide variant Inborn genetic diseases [RCV002367100]|Spastic paraplegia [RCV003098333] ChrX:153870815 [GRCh38]
ChrX:153136270 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.3046+5G>C single nucleotide variant not provided [RCV002281520] ChrX:153864816 [GRCh38]
ChrX:153130271 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.2712G>T (p.Gly904=) single nucleotide variant Inborn genetic diseases [RCV002437450] ChrX:153865336 [GRCh38]
ChrX:153130791 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.2548-37C>A single nucleotide variant not provided [RCV003129402] ChrX:153865537 [GRCh38]
ChrX:153130992 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.2419T>C (p.Ser807Pro) single nucleotide variant Inborn genetic diseases [RCV003300930] ChrX:153866661 [GRCh38]
ChrX:153132116 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1A>G (p.Met1Val) single nucleotide variant Inborn genetic diseases [RCV002417110] ChrX:153875836 [GRCh38]
ChrX:153141291 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001278116.2(L1CAM):c.1703+5G>A single nucleotide variant X-linked hydrocephalus syndrome [RCV002471556] ChrX:153868297 [GRCh38]
ChrX:153133752 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:152805142-153200052)x2 copy number gain not provided [RCV002474953] ChrX:152805142..153200052 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1 copy number loss not provided [RCV002474567] ChrX:124749464..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
NM_001278116.2(L1CAM):c.2389G>A (p.Gly797Arg) single nucleotide variant Spastic paraplegia [RCV002303776] ChrX:153866691 [GRCh38]
ChrX:153132146 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1052G>A (p.Arg351His) single nucleotide variant Inborn genetic diseases [RCV002403922] ChrX:153869874 [GRCh38]
ChrX:153135329 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.3626C>A (p.Ala1209Asp) single nucleotide variant Spastic paraplegia [RCV002301559] ChrX:153862811 [GRCh38]
ChrX:153128266 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) copy number gain Klinefelter syndrome [RCV003236730] ChrX:200855..155240074 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001278116.2(L1CAM):c.2334G>A (p.Thr778=) single nucleotide variant Inborn genetic diseases [RCV002457650] ChrX:153866746 [GRCh38]
ChrX:153132201 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001278116.2(L1CAM):c.1446G>A (p.Leu482=) single nucleotide variant Inborn genetic diseases [RCV002394460] ChrX:153868661 [GRCh38]
ChrX:153134116 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.2432-1G>A single nucleotide variant L1 syndrome [RCV002308615] ChrX:153865820 [GRCh38]
ChrX:153131275 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001278116.2(L1CAM):c.270C>G (p.Pro90=) single nucleotide variant Inborn genetic diseases [RCV002431168]|Spastic paraplegia [RCV003102133] ChrX:153872282 [GRCh38]
ChrX:153137737 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.1641G>C (p.Leu547Phe) single nucleotide variant Spastic paraplegia [RCV002295109] ChrX:153868364 [GRCh38]
ChrX:153133819 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.215A>C (p.Asp72Ala) single nucleotide variant Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV002307849] ChrX:153872337 [GRCh38]
ChrX:153137792 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001278116.2(L1CAM):c.2745G>A (p.Glu915=) single nucleotide variant Inborn genetic diseases [RCV002439287] ChrX:153865303 [GRCh38]
ChrX:153130758 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.1909C>T (p.Pro637Ser) single nucleotide variant Inborn genetic diseases [RCV002408417] ChrX:153867830 [GRCh38]
ChrX:153133285 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.3752A>C (p.Asn1251Thr) single nucleotide variant Spastic paraplegia [RCV002299662] ChrX:153862685 [GRCh38]
ChrX:153128140 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.845C>A (p.Pro282His) single nucleotide variant Inborn genetic diseases [RCV002447547] ChrX:153870202 [GRCh38]
ChrX:153135657 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1751G>A (p.Ser584Asn) single nucleotide variant Inborn genetic diseases [RCV002401579] ChrX:153868075 [GRCh38]
ChrX:153133530 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1581A>T (p.Thr527=) single nucleotide variant Inborn genetic diseases [RCV002405811] ChrX:153868424 [GRCh38]
ChrX:153133879 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.991+4T>A single nucleotide variant Inborn genetic diseases [RCV002382810] ChrX:153870052 [GRCh38]
ChrX:153135507 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.139G>T (p.Val47Phe) single nucleotide variant Inborn genetic diseases [RCV002389219] ChrX:153872650 [GRCh38]
ChrX:153138105 [GRCh37]
ChrX:Xq28
benign|uncertain significance
NM_001278116.2(L1CAM):c.2538C>T (p.Arg846=) single nucleotide variant Spastic paraplegia [RCV003015380] ChrX:153865713 [GRCh38]
ChrX:153131168 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.1268-5C>T single nucleotide variant Spastic paraplegia [RCV003014584] ChrX:153868957 [GRCh38]
ChrX:153134412 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.1974G>A (p.Ala658=) single nucleotide variant Spastic paraplegia [RCV002904388] ChrX:153867519 [GRCh38]
ChrX:153132974 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.992-9T>C single nucleotide variant Spastic paraplegia [RCV002775175] ChrX:153869943 [GRCh38]
ChrX:153135398 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.3046+1G>T single nucleotide variant Spastic paraplegia [RCV002838649] ChrX:153864820 [GRCh38]
ChrX:153130275 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001278116.2(L1CAM):c.1574G>A (p.Arg525His) single nucleotide variant Spastic paraplegia [RCV002751198] ChrX:153868431 [GRCh38]
ChrX:153133886 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.3582G>A (p.Ser1194=) single nucleotide variant Spastic paraplegia [RCV002908666] ChrX:153862855 [GRCh38]
ChrX:153128310 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.1731C>T (p.Val577=) single nucleotide variant Spastic paraplegia [RCV002996937] ChrX:153868095 [GRCh38]
ChrX:153133550 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.3047-7C>A single nucleotide variant Spastic paraplegia [RCV002794933] ChrX:153864711 [GRCh38]
ChrX:153130166 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.91+7del deletion Spastic paraplegia [RCV002690347] ChrX:153873221 [GRCh38]
ChrX:153138676 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.1234C>G (p.Leu412Val) single nucleotide variant Inborn genetic diseases [RCV002973890]|not provided [RCV003434646] ChrX:153869553 [GRCh38]
ChrX:153135008 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.707T>C (p.Ile236Thr) single nucleotide variant not provided [RCV002475304] ChrX:153870487 [GRCh38]
ChrX:153135942 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.2371G>A (p.Val791Ile) single nucleotide variant Spastic paraplegia [RCV002907917] ChrX:153866709 [GRCh38]
ChrX:153132164 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.1170C>T (p.Ile390=) single nucleotide variant Spastic paraplegia [RCV002617822] ChrX:153869617 [GRCh38]
ChrX:153135072 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.1167G>A (p.Leu389=) single nucleotide variant Spastic paraplegia [RCV003016535] ChrX:153869620 [GRCh38]
ChrX:153135075 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.1399A>G (p.Thr467Ala) single nucleotide variant Spastic paraplegia [RCV002994455] ChrX:153868708 [GRCh38]
ChrX:153134163 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1774G>A (p.Val592Met) single nucleotide variant Spastic paraplegia [RCV002903721] ChrX:153868052 [GRCh38]
ChrX:153133507 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.1414G>A (p.Glu472Lys) single nucleotide variant not provided [RCV002461888] ChrX:153868693 [GRCh38]
ChrX:153134148 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1128G>A (p.Leu376=) single nucleotide variant Spastic paraplegia [RCV003073875] ChrX:153869659 [GRCh38]
ChrX:153135114 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.2152C>G (p.Pro718Ala) single nucleotide variant Inborn genetic diseases [RCV002777451] ChrX:153867110 [GRCh38]
ChrX:153132565 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.250G>T (p.Val84Leu) single nucleotide variant Spastic paraplegia [RCV002819227] ChrX:153872302 [GRCh38]
ChrX:153137757 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.2281G>A (p.Gly761Arg) single nucleotide variant Inborn genetic diseases [RCV002708244] ChrX:153866799 [GRCh38]
ChrX:153132254 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.972G>A (p.Ala324=) single nucleotide variant Spastic paraplegia [RCV002761696] ChrX:153870075 [GRCh38]
ChrX:153135530 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.3214C>T (p.Gln1072Ter) single nucleotide variant Inborn genetic diseases [RCV002707842] ChrX:153864430 [GRCh38]
ChrX:153129885 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.3100G>A (p.Val1034Ile) single nucleotide variant Spastic paraplegia [RCV002953685] ChrX:153864651 [GRCh38]
ChrX:153130106 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.2548-11C>T single nucleotide variant Spastic paraplegia [RCV002572024] ChrX:153865511 [GRCh38]
ChrX:153130966 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.1668C>T (p.Asp556=) single nucleotide variant Spastic paraplegia [RCV002976316] ChrX:153868337 [GRCh38]
ChrX:153133792 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.1359G>C (p.Ala453=) single nucleotide variant Spastic paraplegia [RCV002785676] ChrX:153868861 [GRCh38]
ChrX:153134316 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.3069C>T (p.Ile1023=) single nucleotide variant Spastic paraplegia [RCV003078726] ChrX:153864682 [GRCh38]
ChrX:153130137 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.1268-10C>G single nucleotide variant Spastic paraplegia [RCV003038219] ChrX:153868962 [GRCh38]
ChrX:153134417 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.703A>G (p.Met235Val) single nucleotide variant Spastic paraplegia [RCV003079580] ChrX:153870491 [GRCh38]
ChrX:153135946 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.2089C>G (p.Pro697Ala) single nucleotide variant Inborn genetic diseases [RCV002912206] ChrX:153867404 [GRCh38]
ChrX:153132859 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1123+3G>A single nucleotide variant Spastic paraplegia [RCV002866611] ChrX:153869800 [GRCh38]
ChrX:153135255 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1864G>A (p.Asp622Asn) single nucleotide variant Spastic paraplegia [RCV002885044]|not specified [RCV003388128] ChrX:153867875 [GRCh38]
ChrX:153133330 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001278116.2(L1CAM):c.2593C>G (p.His865Asp) single nucleotide variant Spastic paraplegia [RCV002620914] ChrX:153865455 [GRCh38]
ChrX:153130910 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.289A>G (p.Ile97Val) single nucleotide variant Spastic paraplegia [RCV002760152] ChrX:153872263 [GRCh38]
ChrX:153137718 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1829-2A>G single nucleotide variant L1 syndrome [RCV002510468] ChrX:153867912 [GRCh38]
ChrX:153133367 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001278116.2(L1CAM):c.476_524-42delinsGAA indel Spastic paraplegia [RCV002979749] ChrX:153871002..153871104 [GRCh38]
ChrX:153136457..153136559 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001278116.2(L1CAM):c.2892G>T (p.Gly964=) single nucleotide variant Spastic paraplegia [RCV003081247] ChrX:153864975 [GRCh38]
ChrX:153130430 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.1849C>T (p.Arg617Trp) single nucleotide variant Spastic paraplegia [RCV002695079] ChrX:153867890 [GRCh38]
ChrX:153133345 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.756G>C (p.Leu252=) single nucleotide variant Spastic paraplegia [RCV002886525] ChrX:153870438 [GRCh38]
ChrX:153135893 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.1603del (p.Arg534_Val535insTer) deletion Spastic paraplegia [RCV002847470] ChrX:153868402 [GRCh38]
ChrX:153133857 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.524-8C>T single nucleotide variant Spastic paraplegia [RCV002780896] ChrX:153870968 [GRCh38]
ChrX:153136423 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.189C>T (p.Pro63=) single nucleotide variant Spastic paraplegia [RCV002780572] ChrX:153872600 [GRCh38]
ChrX:153138055 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.863T>C (p.Val288Ala) single nucleotide variant Spastic paraplegia [RCV002976439] ChrX:153870184 [GRCh38]
ChrX:153135639 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.2109C>T (p.Val703=) single nucleotide variant Spastic paraplegia [RCV002976457] ChrX:153867384 [GRCh38]
ChrX:153132839 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.3166+18C>A single nucleotide variant Spastic paraplegia [RCV002927126] ChrX:153864567 [GRCh38]
ChrX:153130022 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.2217G>A (p.Arg739=) single nucleotide variant Spastic paraplegia [RCV002927128] ChrX:153866863 [GRCh38]
ChrX:153132318 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.2872+3G>A single nucleotide variant Spastic paraplegia [RCV002740049] ChrX:153865085 [GRCh38]
ChrX:153130540 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.484C>G (p.Pro162Ala) single nucleotide variant Spastic paraplegia [RCV003019453] ChrX:153871096 [GRCh38]
ChrX:153136551 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.147C>T (p.Pro49=) single nucleotide variant Spastic paraplegia [RCV003081178] ChrX:153872642 [GRCh38]
ChrX:153138097 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.1857G>A (p.Val619=) single nucleotide variant Spastic paraplegia [RCV002948358] ChrX:153867882 [GRCh38]
ChrX:153133337 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.3068T>A (p.Ile1023Asn) single nucleotide variant Inborn genetic diseases [RCV002869143] ChrX:153864683 [GRCh38]
ChrX:153130138 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.2920G>A (p.Glu974Lys) single nucleotide variant Inborn genetic diseases [RCV002712382] ChrX:153864947 [GRCh38]
ChrX:153130402 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.348C>T (p.Ala116=) single nucleotide variant Spastic paraplegia [RCV002876108] ChrX:153872204 [GRCh38]
ChrX:153137659 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.1752C>T (p.Ser584=) single nucleotide variant Spastic paraplegia [RCV002958527] ChrX:153868074 [GRCh38]
ChrX:153133529 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.2515G>C (p.Ala839Pro) single nucleotide variant Spastic paraplegia [RCV002576330] ChrX:153865736 [GRCh38]
ChrX:153131191 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.2809C>T (p.Arg937Cys) single nucleotide variant Inborn genetic diseases [RCV002767630] ChrX:153865151 [GRCh38]
ChrX:153130606 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1386C>A (p.Asp462Glu) single nucleotide variant Spastic paraplegia [RCV002958637] ChrX:153868721 [GRCh38]
ChrX:153134176 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.3698A>G (p.Lys1233Arg) single nucleotide variant Spastic paraplegia [RCV002645746] ChrX:153862739 [GRCh38]
ChrX:153128194 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.2260T>C (p.Trp754Arg) single nucleotide variant Spastic paraplegia [RCV003023444] ChrX:153866820 [GRCh38]
ChrX:153132275 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.2943C>T (p.Thr981=) single nucleotide variant Spastic paraplegia [RCV002765979] ChrX:153864924 [GRCh38]
ChrX:153130379 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.3322+18C>T single nucleotide variant Spastic paraplegia [RCV003081808] ChrX:153864304 [GRCh38]
ChrX:153129759 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.3520G>A (p.Gly1174Ser) single nucleotide variant Spastic paraplegia [RCV002800966] ChrX:153863487 [GRCh38]
ChrX:153128942 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1691_1703+3dup duplication Spastic paraplegia [RCV002933060] ChrX:153868298..153868299 [GRCh38]
ChrX:153133753..153133754 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.2872+14C>T single nucleotide variant Spastic paraplegia [RCV002573098] ChrX:153865074 [GRCh38]
ChrX:153130529 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.695-14C>A single nucleotide variant Spastic paraplegia [RCV003058801] ChrX:153870513 [GRCh38]
ChrX:153135968 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.454G>A (p.Glu152Lys) single nucleotide variant Spastic paraplegia [RCV003043277] ChrX:153871126 [GRCh38]
ChrX:153136581 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.2137+19C>T single nucleotide variant Spastic paraplegia [RCV003041672] ChrX:153867337 [GRCh38]
ChrX:153132792 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.932G>A (p.Arg311His) single nucleotide variant Inborn genetic diseases [RCV002666045] ChrX:153870115 [GRCh38]
ChrX:153135570 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.3572G>C (p.Ser1191Thr) single nucleotide variant Spastic paraplegia [RCV002766088] ChrX:153862865 [GRCh38]
ChrX:153128320 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001278116.2(L1CAM):c.3159C>T (p.Ala1053=) single nucleotide variant Spastic paraplegia [RCV002851075] ChrX:153864592 [GRCh38]
ChrX:153130047 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.179G>T (p.Ser60Ile) single nucleotide variant Spastic paraplegia [RCV003046315]|not provided [RCV003236945] ChrX:153872610 [GRCh38]
ChrX:153138065 [GRCh37]
ChrX:Xq28
likely pathogenic|uncertain significance
NM_001278116.2(L1CAM):c.3046+12G>A single nucleotide variant Spastic paraplegia [RCV003090597] ChrX:153864809 [GRCh38]
ChrX:153130264 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.2623G>A (p.Ala875Thr) single nucleotide variant Inborn genetic diseases [RCV003068540]|Spastic paraplegia [RCV003061094] ChrX:153865425 [GRCh38]
ChrX:153130880 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001278116.2(L1CAM):c.1380-2A>T single nucleotide variant Spastic paraplegia [RCV002857289] ChrX:153868729 [GRCh38]
ChrX:153134184 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001278116.2(L1CAM):c.2123T>A (p.Val708Asp) single nucleotide variant Spastic paraplegia [RCV002597573] ChrX:153867370 [GRCh38]
ChrX:153132825 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.2716G>A (p.Ala906Thr) single nucleotide variant Spastic paraplegia [RCV003063516] ChrX:153865332 [GRCh38]
ChrX:153130787 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.1226G>A (p.Arg409Gln) single nucleotide variant Spastic paraplegia [RCV003063522] ChrX:153869561 [GRCh38]
ChrX:153135016 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.807-4G>T single nucleotide variant Spastic paraplegia [RCV002770282] ChrX:153870244 [GRCh38]
ChrX:153135699 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.3368del (p.Phe1123fs) deletion Spastic paraplegia [RCV002899064] ChrX:153863972 [GRCh38]
ChrX:153129427 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.3235G>A (p.Asp1079Asn) single nucleotide variant Spastic paraplegia [RCV003009081] ChrX:153864409 [GRCh38]
ChrX:153129864 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.523+9C>T single nucleotide variant Spastic paraplegia [RCV002629119] ChrX:153871048 [GRCh38]
ChrX:153136503 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.64A>G (p.Ile22Val) single nucleotide variant Spastic paraplegia [RCV002601140] ChrX:153875773 [GRCh38]
ChrX:153141228 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.2547+2T>G single nucleotide variant Spastic paraplegia [RCV002877056] ChrX:153865702 [GRCh38]
ChrX:153131157 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001278116.2(L1CAM):c.3721A>G (p.Asn1241Asp) single nucleotide variant Spastic paraplegia [RCV003048575] ChrX:153862716 [GRCh38]
ChrX:153128171 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.3530+5G>A single nucleotide variant Spastic paraplegia [RCV002598553] ChrX:153863472 [GRCh38]
ChrX:153128927 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.391A>G (p.Met131Val) single nucleotide variant Spastic paraplegia [RCV003088802]|not provided [RCV003434573] ChrX:153872161 [GRCh38]
ChrX:153137616 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.92-9T>C single nucleotide variant Spastic paraplegia [RCV002599240] ChrX:153872706 [GRCh38]
ChrX:153138161 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.816C>T (p.Pro272=) single nucleotide variant Spastic paraplegia [RCV003062483] ChrX:153870231 [GRCh38]
ChrX:153135686 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.2852A>G (p.Tyr951Cys) single nucleotide variant Spastic paraplegia [RCV002900517] ChrX:153865108 [GRCh38]
ChrX:153130563 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1345A>G (p.Lys449Glu) single nucleotide variant Inborn genetic diseases [RCV002832367] ChrX:153868875 [GRCh38]
ChrX:153134330 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1829-20C>T single nucleotide variant Spastic paraplegia [RCV002629415] ChrX:153867930 [GRCh38]
ChrX:153133385 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.2702G>A (p.Arg901Gln) single nucleotide variant Spastic paraplegia [RCV002632859] ChrX:153865346 [GRCh38]
ChrX:153130801 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.806+14C>T single nucleotide variant Spastic paraplegia [RCV003030919] ChrX:153870374 [GRCh38]
ChrX:153135829 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.1678C>A (p.Leu560Ile) single nucleotide variant Spastic paraplegia [RCV003086385] ChrX:153868327 [GRCh38]
ChrX:153133782 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1380-17C>T single nucleotide variant Spastic paraplegia [RCV002988416] ChrX:153868744 [GRCh38]
ChrX:153134199 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.366C>T (p.Thr122=) single nucleotide variant Spastic paraplegia [RCV002988511] ChrX:153872186 [GRCh38]
ChrX:153137641 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.2329A>C (p.Asn777His) single nucleotide variant Spastic paraplegia [RCV003087606] ChrX:153866751 [GRCh38]
ChrX:153132206 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.833G>A (p.Arg278His) single nucleotide variant Spastic paraplegia [RCV003066532] ChrX:153870214 [GRCh38]
ChrX:153135669 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.3543-15C>T single nucleotide variant Spastic paraplegia [RCV003066883] ChrX:153862909 [GRCh38]
ChrX:153128364 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.2929A>G (p.Thr977Ala) single nucleotide variant Spastic paraplegia [RCV002584572] ChrX:153864938 [GRCh38]
ChrX:153130393 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.1387G>C (p.Glu463Gln) single nucleotide variant Spastic paraplegia [RCV002604511] ChrX:153868720 [GRCh38]
ChrX:153134175 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.550C>T (p.Arg184Trp) single nucleotide variant Spastic paraplegia [RCV003066409] ChrX:153870934 [GRCh38]
ChrX:153136389 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.78T>A (p.Tyr26Ter) single nucleotide variant Spastic paraplegia [RCV003066410] ChrX:153873241 [GRCh38]
ChrX:153138696 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.3530+17G>A single nucleotide variant Spastic paraplegia [RCV003068601] ChrX:153863460 [GRCh38]
ChrX:153128915 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.1595G>A (p.Gly532Asp) single nucleotide variant Spastic paraplegia [RCV002582692] ChrX:153868410 [GRCh38]
ChrX:153133865 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.2539G>T (p.Gly847Ter) single nucleotide variant Spastic paraplegia [RCV003050675] ChrX:153865712 [GRCh38]
ChrX:153131167 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.3192G>A (p.Ser1064=) single nucleotide variant Spastic paraplegia [RCV002633291] ChrX:153864452 [GRCh38]
ChrX:153129907 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.958A>G (p.Ser320Gly) single nucleotide variant Spastic paraplegia [RCV003093661] ChrX:153870089 [GRCh38]
ChrX:153135544 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.3609C>T (p.Gly1203=) single nucleotide variant Spastic paraplegia [RCV003070283] ChrX:153862828 [GRCh38]
ChrX:153128283 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.1855G>T (p.Val619Leu) single nucleotide variant Inborn genetic diseases [RCV002655066] ChrX:153867884 [GRCh38]
ChrX:153133339 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.2877T>G (p.Asp959Glu) single nucleotide variant Spastic paraplegia [RCV002584599] ChrX:153864990 [GRCh38]
ChrX:153130445 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.747C>T (p.Ser249=) single nucleotide variant Spastic paraplegia [RCV002606265] ChrX:153870447 [GRCh38]
ChrX:153135902 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.3453_3456del (p.Lys1150_Tyr1151insTer) deletion Spastic paraplegia [RCV003066407] ChrX:153863884..153863887 [GRCh38]
ChrX:153129339..153129342 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.633C>T (p.Ala211=) single nucleotide variant Spastic paraplegia [RCV002611913] ChrX:153870851 [GRCh38]
ChrX:153136306 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.856G>A (p.Asp286Asn) single nucleotide variant Spastic paraplegia [RCV003093374] ChrX:153870191 [GRCh38]
ChrX:153135646 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.991+6G>A single nucleotide variant not specified [RCV003155710] ChrX:153870050 [GRCh38]
ChrX:153135505 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.3226A>T (p.Thr1076Ser) single nucleotide variant not provided [RCV003227280] ChrX:153864418 [GRCh38]
ChrX:153129873 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.2714C>T (p.Pro905Leu) single nucleotide variant Inborn genetic diseases [RCV003193580] ChrX:153865334 [GRCh38]
ChrX:153130789 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.2311C>T (p.Pro771Ser) single nucleotide variant not provided [RCV003228279] ChrX:153866769 [GRCh38]
ChrX:153132224 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.806+5G>C single nucleotide variant not provided [RCV003229220] ChrX:153870383 [GRCh38]
ChrX:153135838 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001278116.2(L1CAM):c.2029C>T (p.Leu677Phe) single nucleotide variant not provided [RCV003219116] ChrX:153867464 [GRCh38]
ChrX:153132919 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.2555del (p.Tyr852fs) deletion X-linked hydrocephalus syndrome [RCV003219194] ChrX:153865493 [GRCh38]
ChrX:153130948 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001278116.2(L1CAM):c.3500dup (p.Met1168fs) duplication L1 syndrome [RCV003226113] ChrX:153863506..153863507 [GRCh38]
ChrX:153128961..153128962 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001278116.2(L1CAM):c.2006C>G (p.Pro669Arg) single nucleotide variant not provided [RCV003214160] ChrX:153867487 [GRCh38]
ChrX:153132942 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.2854G>A (p.Val952Met) single nucleotide variant not provided [RCV003133967] ChrX:153865106 [GRCh38]
ChrX:153130561 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1118T>C (p.Val373Ala) single nucleotide variant not provided [RCV003133965] ChrX:153869808 [GRCh38]
ChrX:153135263 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.2581_2589del (p.His861_Lys863del) deletion not provided [RCV003133966] ChrX:153865459..153865467 [GRCh38]
ChrX:153130914..153130922 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.3630T>G (p.Asp1210Glu) single nucleotide variant Inborn genetic diseases [RCV003215003] ChrX:153862807 [GRCh38]
ChrX:153128262 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1166del (p.Leu389fs) deletion not provided [RCV003146864] ChrX:153869621 [GRCh38]
ChrX:153135076 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001278116.2(L1CAM):c.2900C>T (p.Ser967Phe) single nucleotide variant not provided [RCV003323212] ChrX:153864967 [GRCh38]
ChrX:153130422 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1066G>T (p.Val356Phe) single nucleotide variant not provided [RCV003323035] ChrX:153869860 [GRCh38]
ChrX:153135315 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1365del (p.Ser457fs) deletion not provided [RCV003319614] ChrX:153868855 [GRCh38]
ChrX:153134310 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.931C>T (p.Arg311Cys) single nucleotide variant Inborn genetic diseases [RCV003262724] ChrX:153870116 [GRCh38]
ChrX:153135571 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.3613G>A (p.Asp1205Asn) single nucleotide variant not provided [RCV003319894] ChrX:153862824 [GRCh38]
ChrX:153128279 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.3020G>A (p.Arg1007Gln) single nucleotide variant not provided [RCV003328521] ChrX:153864847 [GRCh38]
ChrX:153130302 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.3583C>G (p.Leu1195Val) single nucleotide variant not provided [RCV003329729] ChrX:153862854 [GRCh38]
ChrX:153128309 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1430A>C (p.Tyr477Ser) single nucleotide variant X-linked complicated corpus callosum dysgenesis [RCV003340912] ChrX:153868677 [GRCh38]
ChrX:153134132 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1811_1816dup (p.Gln605_Leu606insProGln) duplication not specified [RCV003331867] ChrX:153868009..153868010 [GRCh38]
ChrX:153133464..153133465 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.3043T>C (p.Ser1015Pro) single nucleotide variant not specified [RCV003331736] ChrX:153864824 [GRCh38]
ChrX:153130279 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.3092A>T (p.Tyr1031Phe) single nucleotide variant Inborn genetic diseases [RCV003364364] ChrX:153864659 [GRCh38]
ChrX:153130114 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1341G>A (p.Leu447=) single nucleotide variant Spastic paraplegia [RCV003875002] ChrX:153868879 [GRCh38]
ChrX:153134334 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.2253C>T (p.Arg751=) single nucleotide variant Spastic paraplegia [RCV003873172] ChrX:153866827 [GRCh38]
ChrX:153132282 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.1014G>A (p.Lys338=) single nucleotide variant Spastic paraplegia [RCV003873181] ChrX:153869912 [GRCh38]
ChrX:153135367 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.2547+14G>T single nucleotide variant Spastic paraplegia [RCV003873199] ChrX:153865690 [GRCh38]
ChrX:153131145 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.3373G>A (p.Gly1125Ser) single nucleotide variant Spastic paraplegia [RCV003873301] ChrX:153863967 [GRCh38]
ChrX:153129422 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.1796T>C (p.Val599Ala) single nucleotide variant Spastic paraplegia [RCV003874200] ChrX:153868030 [GRCh38]
ChrX:153133485 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.2769G>A (p.Ala923=) single nucleotide variant Spastic paraplegia [RCV003874549] ChrX:153865191 [GRCh38]
ChrX:153130646 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.3543-9C>T single nucleotide variant Spastic paraplegia [RCV003874560] ChrX:153862903 [GRCh38]
ChrX:153128358 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.799G>A (p.Glu267Lys) single nucleotide variant Spastic paraplegia [RCV003875128] ChrX:153870395 [GRCh38]
ChrX:153135850 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.1829-19C>T single nucleotide variant Spastic paraplegia [RCV003873798] ChrX:153867929 [GRCh38]
ChrX:153133384 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.124C>T (p.Pro42Ser) single nucleotide variant not provided [RCV003482754] ChrX:153872665 [GRCh38]
ChrX:153138120 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.3048G>A (p.Gly1016=) single nucleotide variant Spastic paraplegia [RCV003874533] ChrX:153864703 [GRCh38]
ChrX:153130158 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.3334C>T (p.Leu1112Phe) single nucleotide variant Spastic paraplegia [RCV003874879] ChrX:153864006 [GRCh38]
ChrX:153129461 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.3323-15G>A single nucleotide variant Spastic paraplegia [RCV003874622] ChrX:153864032 [GRCh38]
ChrX:153129487 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1 copy number loss not provided [RCV003483929] ChrX:118576752..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq28(chrX:148598351-154943978)x1 copy number loss not provided [RCV003483936] ChrX:148598351..154943978 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:152707335-153624154)x2 copy number gain not provided [RCV003483984] ChrX:152707335..153624154 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:152916854-154775938)x2 copy number gain not provided [RCV003483986] ChrX:152916854..154775938 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:152941303-153549189)x2 copy number gain not provided [RCV003483987] ChrX:152941303..153549189 [GRCh37]
ChrX:Xq28
pathogenic
NM_001278116.2(L1CAM):c.1187C>T (p.Pro396Leu) single nucleotide variant L1CAM-related condition [RCV003402468] ChrX:153869600 [GRCh38]
ChrX:153135055 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.2138C>G (p.Ala713Gly) single nucleotide variant not specified [RCV003479968] ChrX:153867124 [GRCh38]
ChrX:153132579 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.991+1G>A single nucleotide variant L1CAM-related condition [RCV003397789] ChrX:153870055 [GRCh38]
ChrX:153135510 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1 copy number loss not provided [RCV003483930] ChrX:119071609..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
NM_001278116.2(L1CAM):c.20A>G (p.Tyr7Cys) single nucleotide variant not provided [RCV003480417] ChrX:153875817 [GRCh38]
ChrX:153141272 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.2279G>A (p.Arg760Gln) single nucleotide variant not provided [RCV003480416] ChrX:153866801 [GRCh38]
ChrX:153132256 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.2739C>T (p.Thr913=) single nucleotide variant not provided [RCV003482755] ChrX:153865309 [GRCh38]
ChrX:153130764 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1806T>G (p.Ser602Arg) single nucleotide variant L1CAM-related condition [RCV003402651] ChrX:153868020 [GRCh38]
ChrX:153133475 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.3406G>A (p.Val1136Ile) single nucleotide variant not provided [RCV003457628] ChrX:153863934 [GRCh38]
ChrX:153129389 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.3118del (p.Glu1040fs) deletion L1CAM-related condition [RCV003404552] ChrX:153864633 [GRCh38]
ChrX:153130088 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001278116.2(L1CAM):c.2648G>C (p.Ser883Thr) single nucleotide variant not provided [RCV003443771] ChrX:153865400 [GRCh38]
ChrX:153130855 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.114G>A (p.Thr38=) single nucleotide variant not provided [RCV003432623] ChrX:153872675 [GRCh38]
ChrX:153138130 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.1528del (p.Ala510fs) deletion L1CAM-related condition [RCV003391647] ChrX:153868579 [GRCh38]
ChrX:153134034 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_001278116.2(L1CAM):c.1533C>A (p.Asn511Lys) single nucleotide variant not specified [RCV003404986] ChrX:153868574 [GRCh38]
ChrX:153134029 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.247G>C (p.Gly83Arg) single nucleotide variant L1CAM-related condition [RCV003416709] ChrX:153872305 [GRCh38]
ChrX:153137760 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.892C>G (p.Gln298Glu) single nucleotide variant L1CAM-related condition [RCV003392871] ChrX:153870155 [GRCh38]
ChrX:153135610 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001278116.2(L1CAM):c.827G>T (p.Trp276Leu) single nucleotide variant L1CAM-related condition [RCV003417003] ChrX:153870220 [GRCh38]
ChrX:153135675 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.895C>A (p.Leu299Met) single nucleotide variant not provided [RCV003441648] ChrX:153870152 [GRCh38]
ChrX:153135607 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1878G>A (p.Leu626=) single nucleotide variant not provided [RCV003432621] ChrX:153867861 [GRCh38]
ChrX:153133316 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.3473A>G (p.Asp1158Gly) single nucleotide variant not provided [RCV003442614] ChrX:153863534 [GRCh38]
ChrX:153128989 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.1839G>A (p.Gly613=) single nucleotide variant not provided [RCV003432622] ChrX:153867900 [GRCh38]
ChrX:153133355 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.2942C>T (p.Thr981Ile) single nucleotide variant Spastic paraplegia [RCV003878298] ChrX:153864925 [GRCh38]
ChrX:153130380 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.1480C>T (p.Arg494Cys) single nucleotide variant Spastic paraplegia [RCV003824788] ChrX:153868627 [GRCh38]
ChrX:153134082 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.2876A>G (p.Asp959Gly) single nucleotide variant Spastic paraplegia [RCV003879903] ChrX:153864991 [GRCh38]
ChrX:153130446 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.2944G>A (p.Asp982Asn) single nucleotide variant Spastic paraplegia [RCV003877527] ChrX:153864923 [GRCh38]
ChrX:153130378 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.3457+5C>T single nucleotide variant Spastic paraplegia [RCV003879447] ChrX:153863878 [GRCh38]
ChrX:153129333 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001278116.2(L1CAM):c.2547+14G>C single nucleotide variant Spastic paraplegia [RCV003877172] ChrX:153865690 [GRCh38]
ChrX:153131145 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.1829-11C>T single nucleotide variant Spastic paraplegia [RCV003877991] ChrX:153867921 [GRCh38]
ChrX:153133376 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.858C>T (p.Asp286=) single nucleotide variant Spastic paraplegia [RCV003879590] ChrX:153870189 [GRCh38]
ChrX:153135644 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.2049C>T (p.Val683=) single nucleotide variant Spastic paraplegia [RCV003876650] ChrX:153867444 [GRCh38]
ChrX:153132899 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.1940-14T>C single nucleotide variant Spastic paraplegia [RCV003879823] ChrX:153867567 [GRCh38]
ChrX:153133022 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.2548-10G>A single nucleotide variant Spastic paraplegia [RCV003876460] ChrX:153865510 [GRCh38]
ChrX:153130965 [GRCh37]
ChrX:Xq28
likely benign
NM_001278116.2(L1CAM):c.1773C>T (p.Cys591=) single nucleotide variant Spastic paraplegia [RCV003876398] ChrX:153868053 [GRCh38]
ChrX:153133508 [GRCh37]
ChrX:Xq28
benign
NM_001278116.2(L1CAM):c.3639C>T (p.Gly1213=) single nucleotide variant Spastic paraplegia [RCV003878971] ChrX:153862798 [GRCh38]
ChrX:153128253 [GRCh37]
ChrX:Xq28
likely benign
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR146Ahsa-miR-146a-5pOncomiRDBexternal_infoNANA22711166
MIR146Ahsa-miR-146a-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22711166

Predicted Target Of
Summary Value
Count of predictions:11445
Count of miRNA genes:1251
Interacting mature miRNAs:1642
Transcripts:ENST00000361699, ENST00000361981, ENST00000370055, ENST00000370057, ENST00000370058, ENST00000370060, ENST00000407935, ENST00000420165, ENST00000439496, ENST00000455590, ENST00000458029, ENST00000460553, ENST00000464967, ENST00000474853, ENST00000484587, ENST00000484652, ENST00000491983, ENST00000496122, ENST00000538883, ENST00000543994
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
RH80837  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,127,877 - 153,128,124UniSTSGRCh37
Build 36X152,781,071 - 152,781,318RGDNCBI36
CeleraX153,361,561 - 153,361,808RGD
Cytogenetic MapXq28UniSTS
HuRefX141,784,393 - 141,784,640UniSTS
RH102310  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,127,141 - 153,127,317UniSTSGRCh37
Build 36X152,780,335 - 152,780,511RGDNCBI36
CeleraX153,360,825 - 153,361,001RGD
Cytogenetic MapXq28UniSTS
HuRefX141,783,657 - 141,783,833UniSTS
GeneMap99-GB4 RH MapX350.95UniSTS
GDB:381859  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,130,541 - 153,132,245UniSTSGRCh37
Build 36X152,783,735 - 152,785,439RGDNCBI36
CeleraX153,364,225 - 153,365,929RGD
Cytogenetic MapXq28UniSTS
HuRefX141,787,057 - 141,788,761UniSTS
GDB:618098  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,141,165 - 153,141,334UniSTSGRCh37
Build 36X152,794,359 - 152,794,528RGDNCBI36
CeleraX153,374,849 - 153,375,018RGD
Cytogenetic MapXq28UniSTS
HuRefX141,797,743 - 141,797,912UniSTS
GDB:618230  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,137,957 - 153,138,210UniSTSGRCh37
Build 36X152,791,151 - 152,791,404RGDNCBI36
CeleraX153,371,641 - 153,371,894RGD
Cytogenetic MapXq28UniSTS
HuRefX141,794,473 - 141,794,726UniSTS
GDB:618289  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,137,552 - 153,137,857UniSTSGRCh37
Build 36X152,790,746 - 152,791,051RGDNCBI36
CeleraX153,371,236 - 153,371,541RGD
Cytogenetic MapXq28UniSTS
HuRefX141,794,068 - 141,794,373UniSTS
GDB:618293  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,136,206 - 153,136,665UniSTSGRCh37
Build 36X152,789,400 - 152,789,859RGDNCBI36
CeleraX153,369,890 - 153,370,349RGD
Cytogenetic MapXq28UniSTS
HuRefX141,792,722 - 141,793,181UniSTS
GDB:618341  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,135,662 - 153,136,026UniSTSGRCh37
Build 36X152,788,856 - 152,789,220RGDNCBI36
CeleraX153,369,346 - 153,369,710RGD
Cytogenetic MapXq28UniSTS
HuRefX141,792,178 - 141,792,542UniSTS
GDB:618400  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,135,469 - 153,135,749UniSTSGRCh37
Build 36X152,788,663 - 152,788,943RGDNCBI36
CeleraX153,369,153 - 153,369,433RGD
Cytogenetic MapXq28UniSTS
HuRefX141,791,985 - 141,792,265UniSTS
GDB:618484  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,135,208 - 153,135,432UniSTSGRCh37
Build 36X152,788,402 - 152,788,626RGDNCBI36
CeleraX153,368,892 - 153,369,116RGD
Cytogenetic MapXq28UniSTS
HuRefX141,791,724 - 141,791,948UniSTS
GDB:618487  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,134,920 - 153,135,170UniSTSGRCh37
Build 36X152,788,114 - 152,788,364RGDNCBI36
CeleraX153,368,604 - 153,368,854RGD
Cytogenetic MapXq28UniSTS
HuRefX141,791,436 - 141,791,686UniSTS
GDB:618831  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,134,236 - 153,134,453UniSTSGRCh37
Build 36X152,787,430 - 152,787,647RGDNCBI36
CeleraX153,367,920 - 153,368,137RGD
Cytogenetic MapXq28UniSTS
HuRefX141,790,752 - 141,790,969UniSTS
GDB:618836  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,133,970 - 153,134,228UniSTSGRCh37
Build 36X152,787,164 - 152,787,422RGDNCBI36
CeleraX153,367,654 - 153,367,912RGD
Cytogenetic MapXq28UniSTS
HuRefX141,790,486 - 141,790,744UniSTS
GDB:618839  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,136,206 - 153,136,543UniSTSGRCh37
Build 36X152,789,400 - 152,789,737RGDNCBI36
CeleraX153,369,890 - 153,370,227RGD
Cytogenetic MapXq28UniSTS
GDB:618842  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,133,709 - 153,133,971UniSTSGRCh37
Build 36X152,786,903 - 152,787,165RGDNCBI36
CeleraX153,367,393 - 153,367,655RGD
Cytogenetic MapXq28UniSTS
HuRefX141,790,225 - 141,790,487UniSTS
GDB:618846  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,138,552 - 153,138,801UniSTSGRCh37
Build 36X152,791,746 - 152,791,995RGDNCBI36
CeleraX153,372,236 - 153,372,485RGD
Cytogenetic MapXq28UniSTS
HuRefX141,795,068 - 141,795,317UniSTS
GDB:618849  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,133,405 - 153,133,621UniSTSGRCh37
Build 36X152,786,599 - 152,786,815RGDNCBI36
CeleraX153,367,089 - 153,367,305RGD
Cytogenetic MapXq28UniSTS
HuRefX141,789,921 - 141,790,137UniSTS
GDB:618851  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,133,206 - 153,133,441UniSTSGRCh37
Build 36X152,786,400 - 152,786,635RGDNCBI36
CeleraX153,366,890 - 153,367,125RGD
Cytogenetic MapXq28UniSTS
HuRefX141,789,722 - 141,789,957UniSTS
GDB:618866  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,132,765 - 153,133,059UniSTSGRCh37
Build 36X152,785,959 - 152,786,253RGDNCBI36
CeleraX153,366,449 - 153,366,743RGD
Cytogenetic MapXq28UniSTS
HuRefX141,789,281 - 141,789,575UniSTS
GDB:619117  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,132,443 - 153,132,636UniSTSGRCh37
Build 36X152,785,637 - 152,785,830RGDNCBI36
CeleraX153,366,127 - 153,366,320RGD
Cytogenetic MapXq28UniSTS
HuRefX141,788,959 - 141,789,152UniSTS
GDB:619157  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,132,055 - 153,132,386UniSTSGRCh37
Build 36X152,785,249 - 152,785,580RGDNCBI36
CeleraX153,365,739 - 153,366,070RGD
Cytogenetic MapXq28UniSTS
HuRefX141,788,571 - 141,788,902UniSTS
GDB:619161  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,131,096 - 153,131,318UniSTSGRCh37
Build 36X152,784,290 - 152,784,512RGDNCBI36
CeleraX153,364,780 - 153,365,002RGD
Cytogenetic MapXq28UniSTS
HuRefX141,787,612 - 141,787,834UniSTS
GDB:623452  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,130,468 - 153,130,705UniSTSGRCh37
Build 36X152,783,662 - 152,783,899RGDNCBI36
CeleraX153,364,152 - 153,364,389RGD
Cytogenetic MapXq28UniSTS
HuRefX141,786,984 - 141,787,221UniSTS
GDB:623456  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,130,253 - 153,130,490UniSTSGRCh37
Build 36X152,783,447 - 152,783,684RGDNCBI36
CeleraX153,363,937 - 153,364,174RGD
Cytogenetic MapXq28UniSTS
HuRefX141,786,769 - 141,787,006UniSTS
GDB:623463  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,129,961 - 153,130,189UniSTSGRCh37
Build 36X152,783,155 - 152,783,383RGDNCBI36
CeleraX153,363,645 - 153,363,873RGD
Cytogenetic MapXq28UniSTS
HuRefX141,786,477 - 141,786,705UniSTS
GDB:623467  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,129,736 - 153,129,983UniSTSGRCh37
Build 36X152,782,930 - 152,783,177RGDNCBI36
CeleraX153,363,420 - 153,363,667RGD
Cytogenetic MapXq28UniSTS
HuRefX141,786,252 - 141,786,499UniSTS
GDB:623470  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,129,288 - 153,129,519UniSTSGRCh37
Build 36X152,782,482 - 152,782,713RGDNCBI36
CeleraX153,362,972 - 153,363,203RGD
Cytogenetic MapXq28UniSTS
HuRefX141,785,804 - 141,786,035UniSTS
GDB:623474  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,128,775 - 153,129,049UniSTSGRCh37
Build 36X152,781,969 - 152,782,243RGDNCBI36
CeleraX153,362,459 - 153,362,733RGD
Cytogenetic MapXq28UniSTS
HuRefX141,785,291 - 141,785,565UniSTS
GDB:623477  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,128,077 - 153,128,390UniSTSGRCh37
Build 36X152,781,271 - 152,781,584RGDNCBI36
CeleraX153,361,761 - 153,362,074RGD
Cytogenetic MapXq28UniSTS
HuRefX141,784,593 - 141,784,906UniSTS
ECD00106  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,126,565 - 153,127,500UniSTSGRCh37
Build 36X152,779,759 - 152,780,694RGDNCBI36
CeleraX153,360,249 - 153,361,184RGD
Cytogenetic MapXq28UniSTS
HuRefX141,783,081 - 141,784,016UniSTS
ECD00224  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,127,548 - 153,128,470UniSTSGRCh37
Build 36X152,780,742 - 152,781,664RGDNCBI36
CeleraX153,361,232 - 153,362,154RGD
Cytogenetic MapXq28UniSTS
HuRefX141,784,064 - 141,784,986UniSTS
ECD00276  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,128,499 - 153,129,416UniSTSGRCh37
Build 36X152,781,693 - 152,782,610RGDNCBI36
CeleraX153,362,183 - 153,363,100RGD
Cytogenetic MapXq28UniSTS
HuRefX141,785,015 - 141,785,932UniSTS
ECD01087  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,130,418 - 153,131,296UniSTSGRCh37
Build 36X152,783,612 - 152,784,490RGDNCBI36
CeleraX153,364,102 - 153,364,980RGD
Cytogenetic MapXq28UniSTS
HuRefX141,786,934 - 141,787,812UniSTS
ECD01185  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,129,525 - 153,130,399UniSTSGRCh37
Build 36X152,782,719 - 152,783,593RGDNCBI36
CeleraX153,363,209 - 153,364,083RGD
Cytogenetic MapXq28UniSTS
HuRefX141,786,041 - 141,786,915UniSTS
ECD01496  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,137,672 - 153,138,535UniSTSGRCh37
Build 36X152,790,866 - 152,791,729RGDNCBI36
CeleraX153,371,356 - 153,372,219RGD
Cytogenetic MapXq28UniSTS
HuRefX141,794,188 - 141,795,051UniSTS
ECD01556  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,136,779 - 153,137,640UniSTSGRCh37
Build 36X152,789,973 - 152,790,834RGDNCBI36
CeleraX153,370,463 - 153,371,324RGD
Cytogenetic MapXq28UniSTS
HuRefX141,793,295 - 141,794,156UniSTS
ECD02153  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,135,854 - 153,136,693UniSTSGRCh37
Build 36X152,789,048 - 152,789,887RGDNCBI36
CeleraX153,369,538 - 153,370,377RGD
Cytogenetic MapXq28UniSTS
HuRefX141,792,370 - 141,793,209UniSTS
ECD02284  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,138,632 - 153,139,467UniSTSGRCh37
Build 36X152,791,826 - 152,792,661RGDNCBI36
CeleraX153,372,316 - 153,373,151RGD
Cytogenetic MapXq28UniSTS
ECD02312  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,139,525 - 153,140,359UniSTSGRCh37
Build 36X152,792,719 - 152,793,553RGDNCBI36
CeleraX153,373,209 - 153,374,043RGD
Cytogenetic MapXq28UniSTS
ECD02342  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,140,440 - 153,141,273UniSTSGRCh37
Build 36X152,793,634 - 152,794,467RGDNCBI36
CeleraX153,374,124 - 153,374,957RGD
Cytogenetic MapXq28UniSTS
HuRefX141,797,018 - 141,797,851UniSTS
ECD02899  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,132,022 - 153,132,835UniSTSGRCh37
Build 36X152,785,216 - 152,786,029RGDNCBI36
CeleraX153,365,706 - 153,366,519RGD
Cytogenetic MapXq28UniSTS
HuRefX141,788,538 - 141,789,351UniSTS
ECD03345  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,133,734 - 153,134,532UniSTSGRCh37
Build 36X152,786,928 - 152,787,726RGDNCBI36
CeleraX153,367,418 - 153,368,216RGD
Cytogenetic MapXq28UniSTS
HuRefX141,790,250 - 141,791,048UniSTS
ECD03920  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,132,916 - 153,133,696UniSTSGRCh37
Build 36X152,786,110 - 152,786,890RGDNCBI36
CeleraX153,366,600 - 153,367,380RGD
Cytogenetic MapXq28UniSTS
HuRefX141,789,432 - 141,790,212UniSTS
ECD11601  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,141,565 - 153,142,132UniSTSGRCh37
Build 36X152,794,759 - 152,795,326RGDNCBI36
CeleraX153,375,249 - 153,375,816RGD
Cytogenetic MapXq28UniSTS
HuRefX141,798,146 - 141,798,713UniSTS
ECD13701  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,135,280 - 153,135,791UniSTSGRCh37
Build 36X152,788,474 - 152,788,985RGDNCBI36
CeleraX153,368,964 - 153,369,475RGD
Cytogenetic MapXq28UniSTS
HuRefX141,791,796 - 141,792,307UniSTS
ECD13942  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,134,691 - 153,135,196UniSTSGRCh37
Build 36X152,787,885 - 152,788,390RGDNCBI36
CeleraX153,368,375 - 153,368,880RGD
Cytogenetic MapXq28UniSTS
HuRefX141,791,207 - 141,791,712UniSTS
STS-M74387  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,128,110 - 153,128,239UniSTSGRCh37
Build 36X152,781,304 - 152,781,433RGDNCBI36
CeleraX153,361,794 - 153,361,923RGD
Cytogenetic MapXq28UniSTS
HuRefX141,784,626 - 141,784,755UniSTS
GeneMap99-GB4 RH MapX350.95UniSTS
REN87917  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,126,673 - 153,126,922UniSTSGRCh37
Build 36X152,779,867 - 152,780,116RGDNCBI36
CeleraX153,360,357 - 153,360,606RGD
Cytogenetic MapXq28UniSTS
HuRefX141,783,189 - 141,783,438UniSTS
REN87918  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,126,900 - 153,127,124UniSTSGRCh37
Build 36X152,780,094 - 152,780,318RGDNCBI36
CeleraX153,360,584 - 153,360,808RGD
Cytogenetic MapXq28UniSTS
HuRefX141,783,416 - 141,783,640UniSTS
REN87919  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,127,106 - 153,127,340UniSTSGRCh37
Build 36X152,780,300 - 152,780,534RGDNCBI36
CeleraX153,360,790 - 153,361,024RGD
Cytogenetic MapXq28UniSTS
HuRefX141,783,622 - 141,783,856UniSTS
REN87920  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,127,308 - 153,127,566UniSTSGRCh37
Build 36X152,780,502 - 152,780,760RGDNCBI36
CeleraX153,360,992 - 153,361,250RGD
Cytogenetic MapXq28UniSTS
HuRefX141,783,824 - 141,784,082UniSTS
REN87921  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,127,548 - 153,127,803UniSTSGRCh37
Build 36X152,780,742 - 152,780,997RGDNCBI36
CeleraX153,361,232 - 153,361,487RGD
Cytogenetic MapXq28UniSTS
HuRefX141,784,064 - 141,784,319UniSTS
REN87922  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,127,792 - 153,128,037UniSTSGRCh37
Build 36X152,780,986 - 152,781,231RGDNCBI36
CeleraX153,361,476 - 153,361,721RGD
Cytogenetic MapXq28UniSTS
HuRefX141,784,308 - 141,784,553UniSTS
REN87923  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,128,017 - 153,128,245UniSTSGRCh37
Build 36X152,781,211 - 152,781,439RGDNCBI36
CeleraX153,361,701 - 153,361,929RGD
Cytogenetic MapXq28UniSTS
HuRefX141,784,533 - 141,784,761UniSTS
REN87924  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,128,223 - 153,128,465UniSTSGRCh37
Build 36X152,781,417 - 152,781,659RGDNCBI36
CeleraX153,361,907 - 153,362,149RGD
Cytogenetic MapXq28UniSTS
HuRefX141,784,739 - 141,784,981UniSTS
REN87925  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,128,442 - 153,128,694UniSTSGRCh37
Build 36X152,781,636 - 152,781,888RGDNCBI36
CeleraX153,362,126 - 153,362,378RGD
Cytogenetic MapXq28UniSTS
HuRefX141,784,958 - 141,785,210UniSTS
REN87926  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,128,665 - 153,128,893UniSTSGRCh37
Build 36X152,781,859 - 152,782,087RGDNCBI36
CeleraX153,362,349 - 153,362,577RGD
Cytogenetic MapXq28UniSTS
HuRefX141,785,181 - 141,785,409UniSTS
REN87927  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,128,846 - 153,129,105UniSTSGRCh37
Build 36X152,782,040 - 152,782,299RGDNCBI36
CeleraX153,362,530 - 153,362,789RGD
Cytogenetic MapXq28UniSTS
HuRefX141,785,362 - 141,785,621UniSTS
REN87928  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,128,992 - 153,129,243UniSTSGRCh37
Build 36X152,782,186 - 152,782,437RGDNCBI36
CeleraX153,362,676 - 153,362,927RGD
Cytogenetic MapXq28UniSTS
HuRefX141,785,508 - 141,785,759UniSTS
REN87929  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,129,214 - 153,129,442UniSTSGRCh37
Build 36X152,782,408 - 152,782,636RGDNCBI36
CeleraX153,362,898 - 153,363,126RGD
Cytogenetic MapXq28UniSTS
HuRefX141,785,730 - 141,785,958UniSTS
REN87930  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,129,423 - 153,129,666UniSTSGRCh37
Build 36X152,782,617 - 152,782,860RGDNCBI36
CeleraX153,363,107 - 153,363,350RGD
Cytogenetic MapXq28UniSTS
HuRefX141,785,939 - 141,786,182UniSTS
REN87931  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,129,642 - 153,129,895UniSTSGRCh37
Build 36X152,782,836 - 152,783,089RGDNCBI36
CeleraX153,363,326 - 153,363,579RGD
Cytogenetic MapXq28UniSTS
HuRefX141,786,158 - 141,786,411UniSTS
REN87932  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,129,872 - 153,130,122UniSTSGRCh37
Build 36X152,783,066 - 152,783,316RGDNCBI36
CeleraX153,363,556 - 153,363,806RGD
Cytogenetic MapXq28UniSTS
HuRefX141,786,388 - 141,786,638UniSTS
REN87933  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,130,111 - 153,130,359UniSTSGRCh37
Build 36X152,783,305 - 152,783,553RGDNCBI36
CeleraX153,363,795 - 153,364,043RGD
Cytogenetic MapXq28UniSTS
HuRefX141,786,627 - 141,786,875UniSTS
REN87934  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,130,339 - 153,130,570UniSTSGRCh37
Build 36X152,783,533 - 152,783,764RGDNCBI36
CeleraX153,364,023 - 153,364,254RGD
Cytogenetic MapXq28UniSTS
HuRefX141,786,855 - 141,787,086UniSTS
REN87935  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,130,547 - 153,130,785UniSTSGRCh37
Build 36X152,783,741 - 152,783,979RGDNCBI36
CeleraX153,364,231 - 153,364,469RGD
Cytogenetic MapXq28UniSTS
HuRefX141,787,063 - 141,787,301UniSTS
REN87936  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,130,761 - 153,130,985UniSTSGRCh37
Build 36X152,783,955 - 152,784,179RGDNCBI36
CeleraX153,364,445 - 153,364,669RGD
Cytogenetic MapXq28UniSTS
HuRefX141,787,277 - 141,787,501UniSTS
REN87937  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,130,951 - 153,131,175UniSTSGRCh37
Build 36X152,784,145 - 152,784,369RGDNCBI36
CeleraX153,364,635 - 153,364,859RGD
Cytogenetic MapXq28UniSTS
HuRefX141,787,467 - 141,787,691UniSTS
REN87938  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,131,154 - 153,131,408UniSTSGRCh37
Build 36X152,784,348 - 152,784,602RGDNCBI36
CeleraX153,364,838 - 153,365,092RGD
Cytogenetic MapXq28UniSTS
HuRefX141,787,670 - 141,787,924UniSTS
REN87939  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,131,378 - 153,131,614UniSTSGRCh37
Build 36X152,784,572 - 152,784,808RGDNCBI36
CeleraX153,365,062 - 153,365,298RGD
Cytogenetic MapXq28UniSTS
HuRefX141,787,894 - 141,788,130UniSTS
REN87940  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,131,591 - 153,131,860UniSTSGRCh37
Build 36X152,784,785 - 152,785,054RGDNCBI36
CeleraX153,365,275 - 153,365,544RGD
Cytogenetic MapXq28UniSTS
HuRefX141,788,107 - 141,788,376UniSTS
REN87941  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,131,850 - 153,132,074UniSTSGRCh37
Build 36X152,785,044 - 152,785,268RGDNCBI36
CeleraX153,365,534 - 153,365,758RGD
Cytogenetic MapXq28UniSTS
HuRefX141,788,366 - 141,788,590UniSTS
REN87942  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,132,023 - 153,132,249UniSTSGRCh37
Build 36X152,785,217 - 152,785,443RGDNCBI36
CeleraX153,365,707 - 153,365,933RGD
Cytogenetic MapXq28UniSTS
HuRefX141,788,539 - 141,788,765UniSTS
REN87943  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,132,219 - 153,132,467UniSTSGRCh37
Build 36X152,785,413 - 152,785,661RGDNCBI36
CeleraX153,365,903 - 153,366,151RGD
Cytogenetic MapXq28UniSTS
HuRefX141,788,735 - 141,788,983UniSTS
REN87944  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,132,447 - 153,132,672UniSTSGRCh37
Build 36X152,785,641 - 152,785,866RGDNCBI36
CeleraX153,366,131 - 153,366,356RGD
Cytogenetic MapXq28UniSTS
HuRefX141,788,963 - 141,789,188UniSTS
REN87945  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,132,662 - 153,132,909UniSTSGRCh37
Build 36X152,785,856 - 152,786,103RGDNCBI36
CeleraX153,366,346 - 153,366,593RGD
Cytogenetic MapXq28UniSTS
HuRefX141,789,178 - 141,789,425UniSTS
REN87946  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,132,883 - 153,133,128UniSTSGRCh37
Build 36X152,786,077 - 152,786,322RGDNCBI36
CeleraX153,366,567 - 153,366,812RGD
Cytogenetic MapXq28UniSTS
HuRefX141,789,399 - 141,789,644UniSTS
REN87947  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,133,066 - 153,133,295UniSTSGRCh37
Build 36X152,786,260 - 152,786,489RGDNCBI36
CeleraX153,366,750 - 153,366,979RGD
Cytogenetic MapXq28UniSTS
HuRefX141,789,582 - 141,789,811UniSTS
REN87948  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,133,276 - 153,133,536UniSTSGRCh37
Build 36X152,786,470 - 152,786,730RGDNCBI36
CeleraX153,366,960 - 153,367,220RGD
Cytogenetic MapXq28UniSTS
HuRefX141,789,792 - 141,790,052UniSTS
REN87949  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,133,530 - 153,133,767UniSTSGRCh37
Build 36X152,786,724 - 152,786,961RGDNCBI36
CeleraX153,367,214 - 153,367,451RGD
Cytogenetic MapXq28UniSTS
HuRefX141,790,046 - 141,790,283UniSTS
REN87950  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,133,761 - 153,134,028UniSTSGRCh37
Build 36X152,786,955 - 152,787,222RGDNCBI36
CeleraX153,367,445 - 153,367,712RGD
Cytogenetic MapXq28UniSTS
HuRefX141,790,277 - 141,790,544UniSTS
REN87951  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,133,935 - 153,134,181UniSTSGRCh37
Build 36X152,787,129 - 152,787,375RGDNCBI36
CeleraX153,367,619 - 153,367,865RGD
Cytogenetic MapXq28UniSTS
HuRefX141,790,451 - 141,790,697UniSTS
REN87952  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,134,145 - 153,134,396UniSTSGRCh37
Build 36X152,787,339 - 152,787,590RGDNCBI36
CeleraX153,367,829 - 153,368,080RGD
Cytogenetic MapXq28UniSTS
HuRefX141,790,661 - 141,790,912UniSTS
REN87953  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,134,367 - 153,134,631UniSTSGRCh37
Build 36X152,787,561 - 152,787,825RGDNCBI36
CeleraX153,368,051 - 153,368,315RGD
Cytogenetic MapXq28UniSTS
HuRefX141,790,883 - 141,791,147UniSTS
REN87954  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,134,608 - 153,134,855UniSTSGRCh37
Build 36X152,787,802 - 152,788,049RGDNCBI36
CeleraX153,368,292 - 153,368,539RGD
Cytogenetic MapXq28UniSTS
HuRefX141,791,124 - 141,791,371UniSTS
REN87955  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,134,831 - 153,135,062UniSTSGRCh37
Build 36X152,788,025 - 152,788,256RGDNCBI36
CeleraX153,368,515 - 153,368,746RGD
Cytogenetic MapXq28UniSTS
HuRefX141,791,347 - 141,791,578UniSTS
REN87956  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,135,043 - 153,135,296UniSTSGRCh37
Build 36X152,788,237 - 152,788,490RGDNCBI36
CeleraX153,368,727 - 153,368,980RGD
Cytogenetic MapXq28UniSTS
HuRefX141,791,559 - 141,791,812UniSTS
REN87957  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,135,268 - 153,135,529UniSTSGRCh37
Build 36X152,788,462 - 152,788,723RGDNCBI36
CeleraX153,368,952 - 153,369,213RGD
Cytogenetic MapXq28UniSTS
HuRefX141,791,784 - 141,792,045UniSTS
REN87958  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,135,506 - 153,135,738UniSTSGRCh37
Build 36X152,788,700 - 152,788,932RGDNCBI36
CeleraX153,369,190 - 153,369,422RGD
Cytogenetic MapXq28UniSTS
HuRefX141,792,022 - 141,792,254UniSTS
REN87959  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,135,731 - 153,135,969UniSTSGRCh37
Build 36X152,788,925 - 152,789,163RGDNCBI36
CeleraX153,369,415 - 153,369,653RGD
Cytogenetic MapXq28UniSTS
HuRefX141,792,247 - 141,792,485UniSTS
REN87960  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,135,931 - 153,136,182UniSTSGRCh37
Build 36X152,789,125 - 152,789,376RGDNCBI36
CeleraX153,369,615 - 153,369,866RGD
Cytogenetic MapXq28UniSTS
HuRefX141,792,447 - 141,792,698UniSTS
REN87961  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,136,159 - 153,136,418UniSTSGRCh37
Build 36X152,789,353 - 152,789,612RGDNCBI36
CeleraX153,369,843 - 153,370,102RGD
Cytogenetic MapXq28UniSTS
HuRefX141,792,675 - 141,792,934UniSTS
REN87962  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,136,393 - 153,136,625UniSTSGRCh37
Build 36X152,789,587 - 152,789,819RGDNCBI36
CeleraX153,370,077 - 153,370,309RGD
Cytogenetic MapXq28UniSTS
HuRefX141,792,909 - 141,793,141UniSTS
REN87963  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,136,598 - 153,136,838UniSTSGRCh37
Build 36X152,789,792 - 152,790,032RGDNCBI36
CeleraX153,370,282 - 153,370,522RGD
Cytogenetic MapXq28UniSTS
HuRefX141,793,114 - 141,793,354UniSTS
REN87964  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,136,804 - 153,137,045UniSTSGRCh37
Build 36X152,789,998 - 152,790,239RGDNCBI36
CeleraX153,370,488 - 153,370,729RGD
Cytogenetic MapXq28UniSTS
HuRefX141,793,320 - 141,793,561UniSTS
REN87965  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,137,027 - 153,137,267UniSTSGRCh37
Build 36X152,790,221 - 152,790,461RGDNCBI36
CeleraX153,370,711 - 153,370,951RGD
Cytogenetic MapXq28UniSTS
HuRefX141,793,543 - 141,793,783UniSTS
REN87966  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,137,243 - 153,137,467UniSTSGRCh37
Build 36X152,790,437 - 152,790,661RGDNCBI36
CeleraX153,370,927 - 153,371,151RGD
Cytogenetic MapXq28UniSTS
HuRefX141,793,759 - 141,793,983UniSTS
REN87967  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,137,455 - 153,137,710UniSTSGRCh37
Build 36X152,790,649 - 152,790,904RGDNCBI36
CeleraX153,371,139 - 153,371,394RGD
Cytogenetic MapXq28UniSTS
HuRefX141,793,971 - 141,794,226UniSTS
REN87968  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,137,683 - 153,137,952UniSTSGRCh37
Build 36X152,790,877 - 152,791,146RGDNCBI36
CeleraX153,371,367 - 153,371,636RGD
Cytogenetic MapXq28UniSTS
HuRefX141,794,199 - 141,794,468UniSTS
REN87969  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,137,930 - 153,138,171UniSTSGRCh37
Build 36X152,791,124 - 152,791,365RGDNCBI36
CeleraX153,371,614 - 153,371,855RGD
Cytogenetic MapXq28UniSTS
HuRefX141,794,446 - 141,794,687UniSTS
REN87970  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,138,148 - 153,138,397UniSTSGRCh37
Build 36X152,791,342 - 152,791,591RGDNCBI36
CeleraX153,371,832 - 153,372,081RGD
Cytogenetic MapXq28UniSTS
HuRefX141,794,664 - 141,794,913UniSTS
REN87971  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,138,351 - 153,138,575UniSTSGRCh37
Build 36X152,791,545 - 152,791,769RGDNCBI36
CeleraX153,372,035 - 153,372,259RGD
Cytogenetic MapXq28UniSTS
HuRefX141,794,867 - 141,795,091UniSTS
REN87972  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,138,546 - 153,138,789UniSTSGRCh37
Build 36X152,791,740 - 152,791,983RGDNCBI36
CeleraX153,372,230 - 153,372,473RGD
Cytogenetic MapXq28UniSTS
HuRefX141,795,062 - 141,795,305UniSTS
REN87973  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,138,767 - 153,139,034UniSTSGRCh37
Build 36X152,791,961 - 152,792,228RGDNCBI36
CeleraX153,372,451 - 153,372,718RGD
Cytogenetic MapXq28UniSTS
HuRefX141,795,283 - 141,795,550UniSTS
REN87974  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,138,996 - 153,139,250UniSTSGRCh37
Build 36X152,792,190 - 152,792,444RGDNCBI36
CeleraX153,372,680 - 153,372,934RGD
Cytogenetic MapXq28UniSTS
HuRefX141,795,512 - 141,795,766UniSTS
REN87975  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,139,228 - 153,139,465UniSTSGRCh37
Build 36X152,792,422 - 152,792,659RGDNCBI36
CeleraX153,372,912 - 153,373,149RGD
Cytogenetic MapXq28UniSTS
REN87976  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,139,443 - 153,139,686UniSTSGRCh37
Build 36X152,792,637 - 152,792,880RGDNCBI36
CeleraX153,373,127 - 153,373,370RGD
Cytogenetic MapXq28UniSTS
REN87977  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,139,663 - 153,139,933UniSTSGRCh37
Build 36X152,792,857 - 152,793,127RGDNCBI36
CeleraX153,373,347 - 153,373,617RGD
Cytogenetic MapXq28UniSTS
REN87978  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,139,912 - 153,140,144UniSTSGRCh37
Build 36X152,793,106 - 152,793,338RGDNCBI36
CeleraX153,373,596 - 153,373,828RGD
Cytogenetic MapXq28UniSTS
REN87979  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,140,115 - 153,140,351UniSTSGRCh37
Build 36X152,793,309 - 152,793,545RGDNCBI36
CeleraX153,373,799 - 153,374,035RGD
Cytogenetic MapXq28UniSTS
REN87980  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,140,350 - 153,140,588UniSTSGRCh37
Build 36X152,793,544 - 152,793,782RGDNCBI36
CeleraX153,374,034 - 153,374,272RGD
Cytogenetic MapXq28UniSTS
HuRefX141,796,928 - 141,797,166UniSTS
REN87981  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,140,566 - 153,140,799UniSTSGRCh37
Build 36X152,793,760 - 152,793,993RGDNCBI36
CeleraX153,374,250 - 153,374,483RGD
Cytogenetic MapXq28UniSTS
HuRefX141,797,144 - 141,797,377UniSTS
REN87982  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,140,798 - 153,141,050UniSTSGRCh37
Build 36X152,793,992 - 152,794,244RGDNCBI36
CeleraX153,374,482 - 153,374,734RGD
Cytogenetic MapXq28UniSTS
HuRefX141,797,376 - 141,797,628UniSTS
REN87983  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,141,029 - 153,141,274UniSTSGRCh37
Build 36X152,794,223 - 152,794,468RGDNCBI36
CeleraX153,374,713 - 153,374,958RGD
Cytogenetic MapXq28UniSTS
HuRefX141,797,607 - 141,797,852UniSTS
REN87984  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,141,256 - 153,141,486UniSTSGRCh37
Build 36X152,794,450 - 152,794,680RGDNCBI36
CeleraX153,374,940 - 153,375,170RGD
Cytogenetic MapXq28UniSTS
HuRefX141,797,834 - 141,798,064UniSTS
REN87985  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,141,445 - 153,141,687UniSTSGRCh37
Build 36X152,794,639 - 152,794,881RGDNCBI36
CeleraX153,375,129 - 153,375,371RGD
Cytogenetic MapXq28UniSTS
HuRefX141,798,023 - 141,798,268UniSTS
REN87986  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,141,680 - 153,141,906UniSTSGRCh37
Build 36X152,794,874 - 152,795,100RGDNCBI36
CeleraX153,375,364 - 153,375,590RGD
Cytogenetic MapXq28UniSTS
HuRefX141,798,261 - 141,798,487UniSTS
REN87987  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,141,873 - 153,142,134UniSTSGRCh37
Build 36X152,795,067 - 152,795,328RGDNCBI36
CeleraX153,375,557 - 153,375,818RGD
Cytogenetic MapXq28UniSTS
HuRefX141,798,454 - 141,798,715UniSTS
REN87988  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,142,080 - 153,142,325UniSTSGRCh37
Build 36X152,795,274 - 152,795,519RGDNCBI36
CeleraX153,375,764 - 153,376,009RGD
Cytogenetic MapXq28UniSTS
HuRefX141,798,661 - 141,798,906UniSTS
REN87989  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,143,087 - 153,143,324UniSTSGRCh37
Build 36X152,796,281 - 152,796,518RGDNCBI36
CeleraX153,376,771 - 153,377,008RGD
Cytogenetic MapXq28UniSTS
HuRefX141,799,673 - 141,799,910UniSTS
stSG603648  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,128,583 - 153,129,806UniSTSGRCh37
Build 36X152,781,777 - 152,783,000RGDNCBI36
CeleraX153,362,267 - 153,363,490RGD
HuRefX141,785,099 - 141,786,322UniSTS
stSG603649  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,129,787 - 153,131,252UniSTSGRCh37
Build 36X152,782,981 - 152,784,446RGDNCBI36
CeleraX153,363,471 - 153,364,936RGD
Cytogenetic MapXq28UniSTS
HuRefX141,786,303 - 141,787,768UniSTS
stSG603650  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,131,234 - 153,132,468UniSTSGRCh37
Build 36X152,784,428 - 152,785,662RGDNCBI36
CeleraX153,364,918 - 153,366,152RGD
HuRefX141,787,750 - 141,788,984UniSTS
stSG603651  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,132,529 - 153,133,949UniSTSGRCh37
Build 36X152,785,723 - 152,787,143RGDNCBI36
CeleraX153,366,213 - 153,367,633RGD
HuRefX141,789,045 - 141,790,465UniSTS
stSG603652  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,133,930 - 153,134,972UniSTSGRCh37
Build 36X152,787,124 - 152,788,166RGDNCBI36
CeleraX153,367,614 - 153,368,656RGD
HuRefX141,790,446 - 141,791,488UniSTS
stSG603653  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,134,967 - 153,136,412UniSTSGRCh37
Build 36X152,788,161 - 152,789,606RGDNCBI36
CeleraX153,368,651 - 153,370,096RGD
HuRefX141,791,483 - 141,792,928UniSTS
stSG603655  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,137,740 - 153,138,739UniSTSGRCh37
Build 36X152,790,934 - 152,791,933RGDNCBI36
CeleraX153,371,424 - 153,372,423RGD
HuRefX141,794,256 - 141,795,255UniSTS
stSG603656  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,138,721 - 153,140,220UniSTSGRCh37
Build 36X152,791,915 - 152,793,414RGDNCBI36
CeleraX153,372,405 - 153,373,904RGD
stSG603657  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,140,201 - 153,141,227UniSTSGRCh37
Build 36X152,793,395 - 152,794,421RGDNCBI36
CeleraX153,373,885 - 153,374,911RGD


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High 1
Medium 1783 241 365 29 128 18 1100 913 3010 147 420 174 22 1 53 673
Low 586 1917 915 258 818 111 2734 768 679 183 894 1152 151 1128 1611 2
Below cutoff 48 828 386 282 950 282 521 512 43 81 138 264 23 504 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001143963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB101921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI361399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY167680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY167681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY167682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY167683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY167684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY167685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY167686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY167687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY167688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY167689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY167690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY167691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY167692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY167693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY167694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY167695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY167696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY167697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY167698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY167699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY167700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY167701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY167702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY167703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY167704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY167705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY167706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY167707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY167708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY167709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY167710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY167711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY167712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY167713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY167714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY167715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY167716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY167717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY167718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY167719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY167720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY167721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY167722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY167723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY167724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY167725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY167726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY927629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC025843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA122729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF506611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FO681481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY119527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M55271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M74387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M77640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U52111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U52112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X58775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X58776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X59847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X67912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z29373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000361699   ⟹   ENSP00000355380
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,862,548 - 153,875,847 (-)Ensembl
RefSeq Acc Id: ENST00000361981   ⟹   ENSP00000354712
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,861,514 - 153,875,944 (-)Ensembl
RefSeq Acc Id: ENST00000370055   ⟹   ENSP00000359072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,861,953 - 153,886,154 (-)Ensembl
RefSeq Acc Id: ENST00000370058   ⟹   ENSP00000359075
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,862,433 - 153,864,478 (-)Ensembl
RefSeq Acc Id: ENST00000370060   ⟹   ENSP00000359077
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,861,516 - 153,886,173 (-)Ensembl
RefSeq Acc Id: ENST00000407935   ⟹   ENSP00000384902
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,872,152 - 153,876,027 (-)Ensembl
RefSeq Acc Id: ENST00000420165   ⟹   ENSP00000392524
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,872,267 - 153,886,173 (-)Ensembl
RefSeq Acc Id: ENST00000439496   ⟹   ENSP00000402407
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,871,128 - 153,876,039 (-)Ensembl
RefSeq Acc Id: ENST00000455590   ⟹   ENSP00000397792
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,866,772 - 153,868,377 (-)Ensembl
RefSeq Acc Id: ENST00000458029   ⟹   ENSP00000396079
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,872,301 - 153,876,391 (-)Ensembl
RefSeq Acc Id: ENST00000460553
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,872,949 - 153,886,142 (-)Ensembl
RefSeq Acc Id: ENST00000474853
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,864,964 - 153,865,915 (-)Ensembl
RefSeq Acc Id: ENST00000484652
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,868,407 - 153,869,172 (-)Ensembl
RefSeq Acc Id: ENST00000491983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,862,792 - 153,863,969 (-)Ensembl
RefSeq Acc Id: ENST00000496122
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,867,551 - 153,868,623 (-)Ensembl
RefSeq Acc Id: ENST00000616195
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,883,864 - 153,886,161 (-)Ensembl
RefSeq Acc Id: NM_000425   ⟹   NP_000416
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,861,516 - 153,876,014 (-)NCBI
GRCh37X153,126,969 - 153,151,628 (-)NCBI
Build 36X152,780,581 - 152,794,505 (-)NCBI Archive
HuRefX141,783,485 - 141,798,078 (-)NCBI
CHM1_1X153,001,369 - 153,015,918 (-)NCBI
T2T-CHM13v2.0X152,135,197 - 152,149,695 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001143963   ⟹   NP_001137435
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,861,514 - 153,875,944 (-)NCBI
GRCh37X153,126,969 - 153,151,628 (-)NCBI
HuRefX141,783,485 - 141,798,078 (-)NCBI
CHM1_1X153,001,369 - 153,015,817 (-)NCBI
T2T-CHM13v2.0X152,135,195 - 152,149,625 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001278116   ⟹   NP_001265045
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,861,516 - 153,886,173 (-)NCBI
HuRefX141,783,485 - 141,798,078 (-)NCBI
CHM1_1X153,001,369 - 153,026,043 (-)NCBI
T2T-CHM13v2.0X152,135,197 - 152,159,857 (-)NCBI
Sequence:
RefSeq Acc Id: NM_024003   ⟹   NP_076493
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,861,514 - 153,875,944 (-)NCBI
GRCh37X153,126,969 - 153,151,628 (-)NCBI
Build 36X152,780,581 - 152,794,505 (-)NCBI Archive
HuRefX141,783,485 - 141,798,078 (-)NCBI
CHM1_1X153,001,369 - 153,015,817 (-)NCBI
T2T-CHM13v2.0X152,135,195 - 152,149,625 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000416 (Get FASTA)   NCBI Sequence Viewer  
  NP_001137435 (Get FASTA)   NCBI Sequence Viewer  
  NP_001265045 (Get FASTA)   NCBI Sequence Viewer  
  NP_076493 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA36353 (Get FASTA)   NCBI Sequence Viewer  
  AAA59476 (Get FASTA)   NCBI Sequence Viewer  
  AAC14352 (Get FASTA)   NCBI Sequence Viewer  
  AAH25843 (Get FASTA)   NCBI Sequence Viewer  
  AAI26230 (Get FASTA)   NCBI Sequence Viewer  
  AAI36448 (Get FASTA)   NCBI Sequence Viewer  
  AAO17583 (Get FASTA)   NCBI Sequence Viewer  
  AAO17584 (Get FASTA)   NCBI Sequence Viewer  
  AAO17585 (Get FASTA)   NCBI Sequence Viewer  
  AAO17586 (Get FASTA)   NCBI Sequence Viewer  
  AAO17587 (Get FASTA)   NCBI Sequence Viewer  
  AAO17588 (Get FASTA)   NCBI Sequence Viewer  
  AAO17589 (Get FASTA)   NCBI Sequence Viewer  
  AAO17590 (Get FASTA)   NCBI Sequence Viewer  
  AAO17591 (Get FASTA)   NCBI Sequence Viewer  
  AAO17592 (Get FASTA)   NCBI Sequence Viewer  
  AAO17593 (Get FASTA)   NCBI Sequence Viewer  
  AAO17594 (Get FASTA)   NCBI Sequence Viewer  
  AAO17595 (Get FASTA)   NCBI Sequence Viewer  
  AAO17596 (Get FASTA)   NCBI Sequence Viewer  
  AAO17597 (Get FASTA)   NCBI Sequence Viewer  
  AAO17598 (Get FASTA)   NCBI Sequence Viewer  
  AAO17599 (Get FASTA)   NCBI Sequence Viewer  
  AAO17600 (Get FASTA)   NCBI Sequence Viewer  
  AAO17601 (Get FASTA)   NCBI Sequence Viewer  
  AAO17602 (Get FASTA)   NCBI Sequence Viewer  
  AAO17603 (Get FASTA)   NCBI Sequence Viewer  
  AAO17604 (Get FASTA)   NCBI Sequence Viewer  
  AAO17605 (Get FASTA)   NCBI Sequence Viewer  
  AAO17606 (Get FASTA)   NCBI Sequence Viewer  
  AAO17607 (Get FASTA)   NCBI Sequence Viewer  
  AAO17608 (Get FASTA)   NCBI Sequence Viewer  
  AAO17609 (Get FASTA)   NCBI Sequence Viewer  
  AAO17610 (Get FASTA)   NCBI Sequence Viewer  
  AAO17611 (Get FASTA)   NCBI Sequence Viewer  
  AAO17612 (Get FASTA)   NCBI Sequence Viewer  
  AAO17613 (Get FASTA)   NCBI Sequence Viewer  
  AAO17614 (Get FASTA)   NCBI Sequence Viewer  
  AAO17615 (Get FASTA)   NCBI Sequence Viewer  
  AAO17616 (Get FASTA)   NCBI Sequence Viewer  
  AAO17617 (Get FASTA)   NCBI Sequence Viewer  
  AAO17618 (Get FASTA)   NCBI Sequence Viewer  
  AAO17619 (Get FASTA)   NCBI Sequence Viewer  
  AAO17620 (Get FASTA)   NCBI Sequence Viewer  
  AAO17621 (Get FASTA)   NCBI Sequence Viewer  
  AAO17622 (Get FASTA)   NCBI Sequence Viewer  
  AAO17623 (Get FASTA)   NCBI Sequence Viewer  
  AAO17624 (Get FASTA)   NCBI Sequence Viewer  
  AAO17625 (Get FASTA)   NCBI Sequence Viewer  
  AAO17626 (Get FASTA)   NCBI Sequence Viewer  
  AAO17627 (Get FASTA)   NCBI Sequence Viewer  
  AAO17628 (Get FASTA)   NCBI Sequence Viewer  
  AAO17629 (Get FASTA)   NCBI Sequence Viewer  
  ABB58724 (Get FASTA)   NCBI Sequence Viewer  
  ABC25730 (Get FASTA)   NCBI Sequence Viewer  
  ABC25735 (Get FASTA)   NCBI Sequence Viewer  
  ABC25740 (Get FASTA)   NCBI Sequence Viewer  
  ABC25745 (Get FASTA)   NCBI Sequence Viewer  
  ABC25750 (Get FASTA)   NCBI Sequence Viewer  
  ABC25755 (Get FASTA)   NCBI Sequence Viewer  
  ABC25759 (Get FASTA)   NCBI Sequence Viewer  
  ABC25764 (Get FASTA)   NCBI Sequence Viewer  
  ABC25769 (Get FASTA)   NCBI Sequence Viewer  
  ABC25774 (Get FASTA)   NCBI Sequence Viewer  
  ABC25779 (Get FASTA)   NCBI Sequence Viewer  
  ABC25784 (Get FASTA)   NCBI Sequence Viewer  
  ABC25789 (Get FASTA)   NCBI Sequence Viewer  
  ABC25794 (Get FASTA)   NCBI Sequence Viewer  
  ABC25799 (Get FASTA)   NCBI Sequence Viewer  
  ABC25804 (Get FASTA)   NCBI Sequence Viewer  
  ABC25809 (Get FASTA)   NCBI Sequence Viewer  
  ABC25814 (Get FASTA)   NCBI Sequence Viewer  
  ABC25819 (Get FASTA)   NCBI Sequence Viewer  
  ABC25824 (Get FASTA)   NCBI Sequence Viewer  
  ABC25829 (Get FASTA)   NCBI Sequence Viewer  
  ABC25834 (Get FASTA)   NCBI Sequence Viewer  
  ABC25839 (Get FASTA)   NCBI Sequence Viewer  
  ABC25844 (Get FASTA)   NCBI Sequence Viewer  
  ABC25849 (Get FASTA)   NCBI Sequence Viewer  
  ABC25854 (Get FASTA)   NCBI Sequence Viewer  
  ABC25859 (Get FASTA)   NCBI Sequence Viewer  
  ABC25864 (Get FASTA)   NCBI Sequence Viewer  
  ABC25869 (Get FASTA)   NCBI Sequence Viewer  
  ABC25874 (Get FASTA)   NCBI Sequence Viewer  
  ABC25879 (Get FASTA)   NCBI Sequence Viewer  
  ABC25884 (Get FASTA)   NCBI Sequence Viewer  
  ABC25889 (Get FASTA)   NCBI Sequence Viewer  
  ABC25894 (Get FASTA)   NCBI Sequence Viewer  
  ABC25899 (Get FASTA)   NCBI Sequence Viewer  
  ABC25904 (Get FASTA)   NCBI Sequence Viewer  
  ABC25909 (Get FASTA)   NCBI Sequence Viewer  
  ABC25914 (Get FASTA)   NCBI Sequence Viewer  
  ABC25919 (Get FASTA)   NCBI Sequence Viewer  
  ABC25924 (Get FASTA)   NCBI Sequence Viewer  
  ABC25929 (Get FASTA)   NCBI Sequence Viewer  
  ABC25934 (Get FASTA)   NCBI Sequence Viewer  
  ABC25939 (Get FASTA)   NCBI Sequence Viewer  
  ABC25944 (Get FASTA)   NCBI Sequence Viewer  
  ABC25949 (Get FASTA)   NCBI Sequence Viewer  
  ABC25954 (Get FASTA)   NCBI Sequence Viewer  
  ABC25959 (Get FASTA)   NCBI Sequence Viewer  
  ABC25964 (Get FASTA)   NCBI Sequence Viewer  
  ABC25969 (Get FASTA)   NCBI Sequence Viewer  
  ABC25974 (Get FASTA)   NCBI Sequence Viewer  
  ABC25979 (Get FASTA)   NCBI Sequence Viewer  
  ABP88252 (Get FASTA)   NCBI Sequence Viewer  
  BAC80480 (Get FASTA)   NCBI Sequence Viewer  
  BAC80481 (Get FASTA)   NCBI Sequence Viewer  
  BAC80482 (Get FASTA)   NCBI Sequence Viewer  
  BAC80483 (Get FASTA)   NCBI Sequence Viewer  
  BAC80484 (Get FASTA)   NCBI Sequence Viewer  
  BAC80485 (Get FASTA)   NCBI Sequence Viewer  
  BAC80486 (Get FASTA)   NCBI Sequence Viewer  
  BAC80487 (Get FASTA)   NCBI Sequence Viewer  
  BAC80488 (Get FASTA)   NCBI Sequence Viewer  
  BAC80489 (Get FASTA)   NCBI Sequence Viewer  
  BAC80490 (Get FASTA)   NCBI Sequence Viewer  
  BAC80491 (Get FASTA)   NCBI Sequence Viewer  
  BAC80492 (Get FASTA)   NCBI Sequence Viewer  
  BAC80493 (Get FASTA)   NCBI Sequence Viewer  
  BAC80494 (Get FASTA)   NCBI Sequence Viewer  
  BAC80495 (Get FASTA)   NCBI Sequence Viewer  
  BAC80496 (Get FASTA)   NCBI Sequence Viewer  
  BAC80497 (Get FASTA)   NCBI Sequence Viewer  
  BAC80498 (Get FASTA)   NCBI Sequence Viewer  
  BAC80499 (Get FASTA)   NCBI Sequence Viewer  
  BAC80510 (Get FASTA)   NCBI Sequence Viewer  
  BAC80511 (Get FASTA)   NCBI Sequence Viewer  
  BAC80512 (Get FASTA)   NCBI Sequence Viewer  
  BAC80513 (Get FASTA)   NCBI Sequence Viewer  
  BAC80514 (Get FASTA)   NCBI Sequence Viewer  
  BAC80515 (Get FASTA)   NCBI Sequence Viewer  
  BAC80516 (Get FASTA)   NCBI Sequence Viewer  
  BAC80517 (Get FASTA)   NCBI Sequence Viewer  
  BAC80518 (Get FASTA)   NCBI Sequence Viewer  
  BAC80519 (Get FASTA)   NCBI Sequence Viewer  
  BAC80520 (Get FASTA)   NCBI Sequence Viewer  
  BAC80521 (Get FASTA)   NCBI Sequence Viewer  
  BAC80522 (Get FASTA)   NCBI Sequence Viewer  
  BAC80523 (Get FASTA)   NCBI Sequence Viewer  
  BAC80524 (Get FASTA)   NCBI Sequence Viewer  
  BAC80525 (Get FASTA)   NCBI Sequence Viewer  
  BAC80526 (Get FASTA)   NCBI Sequence Viewer  
  BAC80527 (Get FASTA)   NCBI Sequence Viewer  
  BAC80528 (Get FASTA)   NCBI Sequence Viewer  
  BAC80529 (Get FASTA)   NCBI Sequence Viewer  
  BAC80540 (Get FASTA)   NCBI Sequence Viewer  
  BAC80541 (Get FASTA)   NCBI Sequence Viewer  
  BAC80542 (Get FASTA)   NCBI Sequence Viewer  
  BAC80543 (Get FASTA)   NCBI Sequence Viewer  
  BAC80544 (Get FASTA)   NCBI Sequence Viewer  
  BAC80545 (Get FASTA)   NCBI Sequence Viewer  
  BAC80546 (Get FASTA)   NCBI Sequence Viewer  
  BAC80547 (Get FASTA)   NCBI Sequence Viewer  
  BAC80548 (Get FASTA)   NCBI Sequence Viewer  
  BAC80549 (Get FASTA)   NCBI Sequence Viewer  
  BAC80550 (Get FASTA)   NCBI Sequence Viewer  
  BAC80551 (Get FASTA)   NCBI Sequence Viewer  
  BAC80552 (Get FASTA)   NCBI Sequence Viewer  
  BAC80553 (Get FASTA)   NCBI Sequence Viewer  
  BAC80554 (Get FASTA)   NCBI Sequence Viewer  
  BAC80555 (Get FASTA)   NCBI Sequence Viewer  
  BAC80556 (Get FASTA)   NCBI Sequence Viewer  
  BAC80557 (Get FASTA)   NCBI Sequence Viewer  
  BAC80558 (Get FASTA)   NCBI Sequence Viewer  
  BAC80559 (Get FASTA)   NCBI Sequence Viewer  
  BAC80570 (Get FASTA)   NCBI Sequence Viewer  
  BAC80571 (Get FASTA)   NCBI Sequence Viewer  
  BAC80572 (Get FASTA)   NCBI Sequence Viewer  
  BAC80573 (Get FASTA)   NCBI Sequence Viewer  
  BAC80574 (Get FASTA)   NCBI Sequence Viewer  
  BAC80575 (Get FASTA)   NCBI Sequence Viewer  
  BAC80576 (Get FASTA)   NCBI Sequence Viewer  
  BAC80577 (Get FASTA)   NCBI Sequence Viewer  
  BAC80578 (Get FASTA)   NCBI Sequence Viewer  
  BAC80579 (Get FASTA)   NCBI Sequence Viewer  
  BAC80580 (Get FASTA)   NCBI Sequence Viewer  
  BAC80581 (Get FASTA)   NCBI Sequence Viewer  
  BAC80582 (Get FASTA)   NCBI Sequence Viewer  
  BAC80583 (Get FASTA)   NCBI Sequence Viewer  
  BAC80584 (Get FASTA)   NCBI Sequence Viewer  
  BAC80585 (Get FASTA)   NCBI Sequence Viewer  
  BAC80586 (Get FASTA)   NCBI Sequence Viewer  
  BAC80587 (Get FASTA)   NCBI Sequence Viewer  
  BAC80588 (Get FASTA)   NCBI Sequence Viewer  
  BAC80589 (Get FASTA)   NCBI Sequence Viewer  
  BAC80600 (Get FASTA)   NCBI Sequence Viewer  
  BAC80601 (Get FASTA)   NCBI Sequence Viewer  
  BAC80602 (Get FASTA)   NCBI Sequence Viewer  
  BAC80603 (Get FASTA)   NCBI Sequence Viewer  
  BAC80604 (Get FASTA)   NCBI Sequence Viewer  
  BAC80605 (Get FASTA)   NCBI Sequence Viewer  
  BAC80606 (Get FASTA)   NCBI Sequence Viewer  
  BAC80607 (Get FASTA)   NCBI Sequence Viewer  
  BAC80608 (Get FASTA)   NCBI Sequence Viewer  
  BAC80609 (Get FASTA)   NCBI Sequence Viewer  
  BAC80610 (Get FASTA)   NCBI Sequence Viewer  
  BAC80611 (Get FASTA)   NCBI Sequence Viewer  
  BAC80612 (Get FASTA)   NCBI Sequence Viewer  
  BAC80613 (Get FASTA)   NCBI Sequence Viewer  
  BAC80614 (Get FASTA)   NCBI Sequence Viewer  
  BAC80615 (Get FASTA)   NCBI Sequence Viewer  
  BAC80616 (Get FASTA)   NCBI Sequence Viewer  
  BAC80617 (Get FASTA)   NCBI Sequence Viewer  
  BAC80618 (Get FASTA)   NCBI Sequence Viewer  
  BAC80619 (Get FASTA)   NCBI Sequence Viewer  
  BAC80630 (Get FASTA)   NCBI Sequence Viewer  
  BAC80631 (Get FASTA)   NCBI Sequence Viewer  
  BAC80632 (Get FASTA)   NCBI Sequence Viewer  
  BAC80633 (Get FASTA)   NCBI Sequence Viewer  
  BAC80634 (Get FASTA)   NCBI Sequence Viewer  
  BAC80635 (Get FASTA)   NCBI Sequence Viewer  
  BAC80636 (Get FASTA)   NCBI Sequence Viewer  
  BAC80637 (Get FASTA)   NCBI Sequence Viewer  
  BAC80638 (Get FASTA)   NCBI Sequence Viewer  
  BAC80639 (Get FASTA)   NCBI Sequence Viewer  
  BAC80640 (Get FASTA)   NCBI Sequence Viewer  
  BAC80641 (Get FASTA)   NCBI Sequence Viewer  
  BAC80642 (Get FASTA)   NCBI Sequence Viewer  
  BAC80643 (Get FASTA)   NCBI Sequence Viewer  
  BAC80644 (Get FASTA)   NCBI Sequence Viewer  
  BAC80645 (Get FASTA)   NCBI Sequence Viewer  
  BAC80646 (Get FASTA)   NCBI Sequence Viewer  
  BAC80647 (Get FASTA)   NCBI Sequence Viewer  
  BAC80648 (Get FASTA)   NCBI Sequence Viewer  
  BAC80649 (Get FASTA)   NCBI Sequence Viewer  
  BAC80660 (Get FASTA)   NCBI Sequence Viewer  
  BAC80661 (Get FASTA)   NCBI Sequence Viewer  
  BAC80662 (Get FASTA)   NCBI Sequence Viewer  
  BAC80663 (Get FASTA)   NCBI Sequence Viewer  
  BAC80664 (Get FASTA)   NCBI Sequence Viewer  
  BAC80665 (Get FASTA)   NCBI Sequence Viewer  
  BAC80666 (Get FASTA)   NCBI Sequence Viewer  
  BAC80667 (Get FASTA)   NCBI Sequence Viewer  
  BAC80668 (Get FASTA)   NCBI Sequence Viewer  
  BAC80669 (Get FASTA)   NCBI Sequence Viewer  
  BAC80670 (Get FASTA)   NCBI Sequence Viewer  
  BAC80671 (Get FASTA)   NCBI Sequence Viewer  
  BAC80672 (Get FASTA)   NCBI Sequence Viewer  
  BAC80673 (Get FASTA)   NCBI Sequence Viewer  
  BAC80674 (Get FASTA)   NCBI Sequence Viewer  
  BAC80675 (Get FASTA)   NCBI Sequence Viewer  
  BAC80676 (Get FASTA)   NCBI Sequence Viewer  
  BAC80677 (Get FASTA)   NCBI Sequence Viewer  
  BAC80678 (Get FASTA)   NCBI Sequence Viewer  
  BAC80679 (Get FASTA)   NCBI Sequence Viewer  
  BAC81122 (Get FASTA)   NCBI Sequence Viewer  
  BAF82443 (Get FASTA)   NCBI Sequence Viewer  
  CAA41576 (Get FASTA)   NCBI Sequence Viewer  
  CAA42508 (Get FASTA)   NCBI Sequence Viewer  
  CAA82564 (Get FASTA)   NCBI Sequence Viewer  
  CAB37831 (Get FASTA)   NCBI Sequence Viewer  
  EAW72787 (Get FASTA)   NCBI Sequence Viewer  
  EAW72788 (Get FASTA)   NCBI Sequence Viewer  
  EAW72789 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000354712
  ENSP00000354712.3
  ENSP00000355380
  ENSP00000355380.4
  ENSP00000359072.1
  ENSP00000359075.3
  ENSP00000359077
  ENSP00000359077.1
  ENSP00000384902.2
  ENSP00000392524.1
  ENSP00000396079.1
  ENSP00000397792.1
  ENSP00000402407.1
GenBank Protein P32004 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001137435   ⟸   NM_001143963
- Peptide Label: isoform 3 precursor
- UniProtKB: A8K139 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_076493   ⟸   NM_024003
- Peptide Label: isoform 2 precursor
- UniProtKB: A8K139 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_000416   ⟸   NM_000425
- Peptide Label: isoform 1 precursor
- UniProtKB: G3XAF4 (UniProtKB/Swiss-Prot),   B2RMU7 (UniProtKB/Swiss-Prot),   A4ZYW4 (UniProtKB/Swiss-Prot),   A0AV65 (UniProtKB/Swiss-Prot),   Q8TA87 (UniProtKB/Swiss-Prot),   P32004 (UniProtKB/Swiss-Prot),   A8K139 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001265045   ⟸   NM_001278116
- Peptide Label: isoform 1 precursor
- UniProtKB: G3XAF4 (UniProtKB/Swiss-Prot),   B2RMU7 (UniProtKB/Swiss-Prot),   A4ZYW4 (UniProtKB/Swiss-Prot),   A0AV65 (UniProtKB/Swiss-Prot),   Q8TA87 (UniProtKB/Swiss-Prot),   P32004 (UniProtKB/Swiss-Prot),   A8K139 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000359072   ⟸   ENST00000370055
RefSeq Acc Id: ENSP00000359075   ⟸   ENST00000370058
RefSeq Acc Id: ENSP00000359077   ⟸   ENST00000370060
RefSeq Acc Id: ENSP00000402407   ⟸   ENST00000439496
RefSeq Acc Id: ENSP00000355380   ⟸   ENST00000361699
RefSeq Acc Id: ENSP00000354712   ⟸   ENST00000361981
RefSeq Acc Id: ENSP00000397792   ⟸   ENST00000455590
RefSeq Acc Id: ENSP00000396079   ⟸   ENST00000458029
RefSeq Acc Id: ENSP00000384902   ⟸   ENST00000407935
RefSeq Acc Id: ENSP00000392524   ⟸   ENST00000420165
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P32004-F1-model_v2 AlphaFold P32004 1-1257 view protein structure

Promoters
RGD ID:6808985
Promoter ID:HG_KWN:68571
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000061096,   OTTHUMT00000316201
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,783,256 - 152,783,756 (-)MPROMDB
RGD ID:6808983
Promoter ID:HG_KWN:68572
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000316200
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,783,956 - 152,784,456 (-)MPROMDB
RGD ID:6808982
Promoter ID:HG_KWN:68573
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000313609,   OTTHUMT00000316198,   OTTHUMT00000316199
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,787,956 - 152,788,456 (-)MPROMDB
RGD ID:6808986
Promoter ID:HG_KWN:68574
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:UC004FJD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,789,256 - 152,789,756 (-)MPROMDB
RGD ID:6808984
Promoter ID:HG_KWN:68575
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000361699,   ENST00000361981,   ENST00000370057,   ENST00000370058,   NM_001143963,   OTTHUMT00000316196,   OTTHUMT00000316197,   OTTHUMT00000336872,   UC010NUO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,794,256 - 152,794,756 (-)MPROMDB
RGD ID:6808987
Promoter ID:HG_KWN:68577
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000370055,   ENST00000370060,   ENST00000407935,   OTTHUMT00000061098,   OTTHUMT00000316194,   OTTHUMT00000316195,   UC004FJE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,804,406 - 152,804,906 (-)MPROMDB
RGD ID:13628540
Promoter ID:EPDNEW_H29508
Type:initiation region
Name:L1CAM_2
Description:L1 cell adhesion molecule
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29509  EPDNEW_H29510  EPDNEW_H29511  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,875,873 - 153,875,933EPDNEW
RGD ID:13628542
Promoter ID:EPDNEW_H29509
Type:initiation region
Name:L1CAM_3
Description:L1 cell adhesion molecule
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29508  EPDNEW_H29510  EPDNEW_H29511  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,876,014 - 153,876,074EPDNEW
RGD ID:13628544
Promoter ID:EPDNEW_H29510
Type:initiation region
Name:L1CAM_4
Description:L1 cell adhesion molecule
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29508  EPDNEW_H29509  EPDNEW_H29511  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,879,467 - 153,879,527EPDNEW
RGD ID:13628546
Promoter ID:EPDNEW_H29511
Type:initiation region
Name:L1CAM_1
Description:L1 cell adhesion molecule
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29508  EPDNEW_H29509  EPDNEW_H29510  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,886,142 - 153,886,202EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6470 AgrOrtholog
COSMIC L1CAM COSMIC
Ensembl Genes ENSG00000198910 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000361699 ENTREZGENE
  ENST00000361699.8 UniProtKB/Swiss-Prot
  ENST00000361981 ENTREZGENE
  ENST00000361981.7 UniProtKB/Swiss-Prot
  ENST00000370055.5 UniProtKB/Swiss-Prot
  ENST00000370058.7 UniProtKB/TrEMBL
  ENST00000370060 ENTREZGENE
  ENST00000370060.7 UniProtKB/Swiss-Prot
  ENST00000407935.6 UniProtKB/TrEMBL
  ENST00000420165.5 UniProtKB/TrEMBL
  ENST00000439496.5 UniProtKB/TrEMBL
  ENST00000455590.1 UniProtKB/TrEMBL
  ENST00000458029.1 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000198910 GTEx
HGNC ID HGNC:6470 ENTREZGENE
Human Proteome Map L1CAM Human Proteome Map
InterPro Basigin-like UniProtKB/TrEMBL
  FN3_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_I-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neurofascin/L1/NrCAM_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3897 UniProtKB/Swiss-Prot
NCBI Gene 3897 ENTREZGENE
OMIM 308840 OMIM
PANTHER BASIGIN RELATED UniProtKB/TrEMBL
  CYTOKINE RECEPTOR UniProtKB/TrEMBL
  IG-LIKE DOMAIN-CONTAINING PROTEIN UniProtKB/TrEMBL
  IG-LIKE DOMAIN-CONTAINING PROTEIN UniProtKB/TrEMBL
  L1 CELL ADHESION MOLECULE, PARALOG A UniProtKB/TrEMBL
  PROTEIN SAX-3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN SIDEKICK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN-TYROSINE-PHOSPHATASE UniProtKB/TrEMBL
  ROUNDABOUT HOMOLOG 4 UniProtKB/TrEMBL
  TITIN UniProtKB/TrEMBL
Pfam Bravo_FIGEY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  fn3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  I-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30259 PharmGKB
PROSITE FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IG_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IGc2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00409 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49265 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0AV65 ENTREZGENE
  A4ZYW4 ENTREZGENE
  A8K139 ENTREZGENE, UniProtKB/TrEMBL
  B2RMU7 ENTREZGENE
  E7EMY4_HUMAN UniProtKB/TrEMBL
  E7EPI4_HUMAN UniProtKB/TrEMBL
  E7EVM4_HUMAN UniProtKB/TrEMBL
  E9PHJ4_HUMAN UniProtKB/TrEMBL
  G3XAF4 ENTREZGENE
  H0Y5C3_HUMAN UniProtKB/TrEMBL
  H3BLW5_HUMAN UniProtKB/TrEMBL
  L1CAM_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q7Z2F9_HUMAN UniProtKB/TrEMBL
  Q7Z2H2_HUMAN UniProtKB/TrEMBL
  Q7Z2I3_HUMAN UniProtKB/TrEMBL
  Q7Z2J0_HUMAN UniProtKB/TrEMBL
  Q7Z2J6_HUMAN UniProtKB/TrEMBL
  Q7Z2J8_HUMAN UniProtKB/TrEMBL
  Q7Z2J9_HUMAN UniProtKB/TrEMBL
  Q7Z3Z9_HUMAN UniProtKB/TrEMBL
  Q86SE4_HUMAN UniProtKB/TrEMBL
  Q8TA87 ENTREZGENE
UniProt Secondary A0AV65 UniProtKB/Swiss-Prot
  A4ZYW4 UniProtKB/Swiss-Prot
  B2RMU7 UniProtKB/Swiss-Prot
  G3XAF4 UniProtKB/Swiss-Prot
  Q8TA87 UniProtKB/Swiss-Prot