ERBB4 (erb-b2 receptor tyrosine kinase 4) - Rat Genome Database

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Gene: ERBB4 (erb-b2 receptor tyrosine kinase 4) Homo sapiens
Analyze
Symbol: ERBB4
Name: erb-b2 receptor tyrosine kinase 4
RGD ID: 732538
HGNC Page HGNC:3432
Description: Enables several functions, including epidermal growth factor receptor binding activity; protein homodimerization activity; and transmembrane signaling receptor activity. Involved in several processes, including ERBB4-ERBB4 signaling pathway; positive regulation of nitrogen compound metabolic process; and positive regulation of signal transduction. Located in basolateral plasma membrane; mitochondrion; and nucleus. Part of receptor complex. Is active in plasma membrane. Implicated in amyotrophic lateral sclerosis type 19; colorectal cancer; esophagus squamous cell carcinoma; hepatocellular carcinoma; and lung adenocarcinoma. Biomarker of carcinoma (multiple); ductal carcinoma in situ; reproductive organ cancer (multiple); and urinary bladder cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ALS19; avian erythroblastic leukemia viral (v-erb-b2) oncogene homolog 4; ERBB4 transcript variant I12DEL; ERBB4 transcript variant I20DEL; HER4; human epidermal growth factor receptor 4; MGC138404; p180erbB4; proto-oncogene-like protein c-ErbB-4; receptor tyrosine kinase; receptor tyrosine-protein kinase erbB-4; tyrosine kinase-type cell surface receptor HER4; v-erb-a erythroblastic leukemia viral oncogene homolog 4; v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4
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
GRCh382211,375,717 - 212,538,802 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2211,375,717 - 212,538,841 (-)EnsemblGRCh38hg38GRCh38
GRCh372212,240,442 - 213,403,526 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362211,948,687 - 213,111,597 (-)NCBINCBI36Build 36hg18NCBI36
Build 342212,072,320 - 213,228,793NCBI
Celera2206,008,419 - 207,168,130 (-)NCBICelera
Cytogenetic Map2q34NCBI
HuRef2204,087,816 - 205,252,852 (-)NCBIHuRef
CHM1_12212,246,189 - 213,409,602 (-)NCBICHM1_1
T2T-CHM13v2.02211,856,201 - 213,019,445 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(25R)-cholest-5-ene-3beta,26-diol  (EXP)
1,4-dioxane  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
26-hydroxycholesterol  (EXP)
3-\{1-[3-(dimethylamino)propyl]-1H-indol-3-yl\}-4-(1H-indol-3-yl)-1H-pyrrole-2,5-dione  (EXP)
3-chloropropane-1,2-diol  (ISO)
4-hydroxynon-2-enal  (EXP)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
androgen antagonist  (ISO)
antirheumatic drug  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
batimastat  (EXP)
benzo[a]pyrene  (EXP)
bis(2-chloroethyl) sulfide  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
Butylparaben  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
clozapine  (ISO)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
cyclophosphamide  (EXP)
DDE  (ISO)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
doxorubicin  (EXP)
enzacamene  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
etoposide  (EXP)
GW 4064  (ISO)
haloperidol  (ISO)
ibuprofen  (EXP)
irinotecan  (EXP)
ketamine  (ISO)
linuron  (ISO)
lipopolysaccharide  (ISO)
malathion  (EXP)
methoxychlor  (ISO)
methylmercury chloride  (EXP)
miconazole  (ISO)
mifepristone  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
N-methyl-N'-nitro-N-nitrosoguanidine  (EXP)
nickel atom  (EXP)
O-methyleugenol  (EXP)
ochratoxin A  (EXP)
paclitaxel  (EXP)
paracetamol  (ISO)
paraquat  (ISO)
phenylarsine oxide  (EXP)
phorbol 13-acetate 12-myristate  (EXP)
ponatinib  (EXP)
prochloraz  (ISO)
procymidone  (ISO)
progesterone  (ISO)
pyrrolidine dithiocarbamate  (EXP,ISO)
raloxifene  (EXP)
resveratrol  (EXP)
risperidone  (ISO)
sodium arsenite  (EXP,ISO)
succimer  (EXP)
sulindac sulfide  (EXP)
sunitinib  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP)
titanium dioxide  (ISO)
trichostatin A  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
apoptotic process  (IEA)
cardiac muscle tissue regeneration  (IEA,ISS)
cell fate commitment  (IEA,ISO)
cell migration  (IDA)
cell surface receptor protein tyrosine kinase signaling pathway  (IDA,IEA)
cell surface receptor signaling pathway  (IEA)
cell surface receptor signaling pathway via JAK-STAT  (IEA)
cellular response to epidermal growth factor stimulus  (IEA,ISO)
central nervous system morphogenesis  (IEA,ISS)
embryonic pattern specification  (IEA,ISS)
epidermal growth factor receptor signaling pathway  (IEA)
ERBB signaling pathway  (IEA)
ERBB2-ERBB4 signaling pathway  (IEA)
ERBB4 signaling pathway  (IDA,IEA)
ERBB4-ERBB4 signaling pathway  (IDA,IEA)
establishment of planar polarity involved in nephron morphogenesis  (IEA,ISO)
heart development  (IEA,ISO,ISS)
lactation  (IEA,IMP)
mammary gland alveolus development  (IEA,ISS)
mammary gland development  (ISO)
mammary gland epithelial cell differentiation  (IEA,ISS)
mitochondrial fragmentation involved in apoptotic process  (IMP)
negative regulation of apoptotic process  (IBA,IEA,IMP,ISO)
negative regulation of cell population proliferation  (IMP)
negative regulation of muscle cell apoptotic process  (ISO)
negative regulation of neuron migration  (ISO)
nervous system development  (IEA,ISO,ISS)
neural crest cell migration  (IEA,ISS)
neurogenesis  (IBA,IEA)
neurotransmitter receptor localization to postsynaptic specialization membrane  (IEA)
olfactory bulb interneuron differentiation  (IEA,ISS)
positive regulation of apoptotic process  (ISO)
positive regulation of cardiac muscle cell proliferation  (IEA,ISS)
positive regulation of cell migration  (ISO)
positive regulation of cell population proliferation  (IBA,IEA,IMP,ISO)
positive regulation of DNA-templated transcription  (IEA,IMP)
positive regulation of epithelial cell proliferation  (ISO)
positive regulation of ERK1 and ERK2 cascade  (IMP)
positive regulation of glucose import  (ISO)
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  (IEA,ISO)
positive regulation of phospholipid biosynthetic process  (ISO)
positive regulation of protein localization to cell surface  (IEA,ISO)
positive regulation of protein phosphorylation  (TAS)
positive regulation of receptor signaling pathway via JAK-STAT  (IEA,IMP)
positive regulation of synaptic transmission, GABAergic  (ISO)
positive regulation of tyrosine phosphorylation of STAT protein  (IEA,IMP)
regulation of cell communication  (IEA)
regulation of cell migration  (IEA,ISS)
regulation of cell population proliferation  (IEA)
regulation of signaling  (IEA)
response to hydrogen peroxide  (ISO)
response to progesterone  (ISO)
response to xenobiotic stimulus  (ISO)
signal transduction  (IDA)
surfactant homeostasis  (ISO)
synapse assembly  (IEA)
synapse maturation  (ISO)
telencephalon development  (ISO)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Gene expression profiling of ERBB receptors and ligands in human transitional cell carcinoma of the bladder. Amsellem-Ouazana D, etal., J Urol. 2006 Mar;175(3 Pt 1):1127-32.
2. ErbB receptors modulation in different types of peripheral nerve regeneration. Audisio C, etal., Neuroreport. 2008 Oct 29;19(16):1605-9. doi: 10.1097/WNR.0b013e32831313ef.
3. Absence of HER4 expression predicts recurrence of ductal carcinoma in situ of the breast. Barnes NL, etal., Clin Cancer Res. 2005 Mar 15;11(6):2163-8.
4. Prognostic implications of altered human epidermal growth factor receptors (HERs) in gastric carcinomas: HER2 and HER3 are predictors of poor outcome. Begnami MD, etal., J Clin Oncol. 2011 Aug 1;29(22):3030-6. doi: 10.1200/JCO.2010.33.6313. Epub 2011 Jun 27.
5. Nuclear and cytoplasmic expression of ErbB-4 in prostate cancer. Ben-Yosef R, etal., Int J Biol Markers. 2007 Jul-Sep;22(3):181-5.
6. Immunohistochemical expression patterns of the HER4 receptors in normal mucosa and in laryngeal squamous cell carcinomas: antioncogenic significance of the HER4 protein in laryngeal squamous cell carcinoma. Bussu F, etal., Laryngoscope. 2012 Aug;122(8):1724-33. doi: 10.1002/lary.23311. Epub 2012 May 1.
7. EGFR-activating mutations, DNA copy number abundance of ErbB family, and prognosis in lung adenocarcinoma. Chen HY, etal., Oncotarget. 2016 Feb 23;7(8):9017-25. doi: 10.18632/oncotarget.7029.
8. Disruption of ErbB receptor signaling in adult non-myelinating Schwann cells causes progressive sensory loss. Chen S, etal., Nat Neurosci 2003 Nov;6(11):1186-93. Epub 2003 Oct 12.
9. Cervical small cell neuroendocrine tumor mutation profiles via whole exome sequencing. Cho SY, etal., Oncotarget. 2017 Jan 31;8(5):8095-8104. doi: 10.18632/oncotarget.14098.
10. Neuregulin-1 attenuates neointimal formation following vascular injury and inhibits the proliferation of vascular smooth muscle cells. Clement CM, etal., J Vasc Res. 2007;44(4):303-12. Epub 2007 Apr 16.
11. Protein levels and gene expressions of the epidermal growth factor receptors, HER1, HER2, HER3 and HER4 in benign and malignant ovarian tumors. Dahl Steffensen K, etal., Int J Oncol. 2008 Jul;33(1):195-204.
12. Expression of ErbB-3 and ErbB-4 protooncogene proteins in oral squamous cell carcinoma: a pilot study. de Vicente JC, etal., Med Oral. 2003 Nov-Dec;8(5):374-81.
13. HER family receptors expression in squamous cell carcinoma of the tongue: study of the possible prognostic and biological significance. Del Sordo R, etal., J Oral Pathol Med. 2010 Jan;39(1):79-86. doi: 10.1111/j.1600-0714.2009.00815.x. Epub 2009 Aug 18.
14. [A study on the expression of erbB4/HER4 in non-small cell lung cancer]. Deng Z, etal., Zhongguo Fei Ai Za Zhi. 2002 Jun 20;5(3):177-9. doi: 10.3779/j.issn.1009-3419.2002.03.06.
15. Expression of the epidermal growth factor system in endometrioid endometrial cancer. Ejskjaer K, etal., Gynecol Oncol. 2007 Jan;104(1):158-67. Epub 2006 Sep 7.
16. Expressions of neuregulin 1beta and ErbB4 in prefrontal cortex and hippocampus of a rat schizophrenia model induced by chronic MK-801 administration. Feng Y, etal., J Biomed Biotechnol. 2010;2010:859516. doi: 10.1155/2010/859516. Epub 2010 May 4.
17. The prognostic significance of human epidermal growth factor receptor correlations in squamous cell cervical carcinoma. Fuchs I, etal., Anticancer Res. 2007 Mar-Apr;27(2):959-63.
18. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
19. Neuregulin-1/ErbB signaling is impaired in the rat model of diabetic cardiomyopathy. Gui C, etal., Cardiovasc Pathol. 2012 Sep-Oct;21(5):414-20. doi: 10.1016/j.carpath.2011.12.006. Epub 2012 Jan 28.
20. Identification of patients with transitional cell carcinoma of the bladder overexpressing ErbB2, ErbB3, or specific ErbB4 isoforms: real-time reverse transcription-PCR analysis in estimation of ErbB receptor status from cancer patients. Junttila TT, etal., Clin Cancer Res. 2003 Nov 1;9(14):5346-57.
21. Expression of the HER family mRNA in breast cancer tissue and association with cell cycle inhibitors p21(waf1) and p27(kip1). Kalemi TG, etal., Anticancer Res. 2007 Mar-Apr;27(2):913-20.
22. Distinctive expression pattern of ErbB family receptors signifies an aggressive variant of bladder cancer. Kassouf W, etal., J Urol. 2008 Jan;179(1):353-8. Epub 2007 Nov 19.
23. Prognostic significance of HER3 and HER4 protein expression in colorectal adenocarcinomas. Kountourakis P, etal., BMC Cancer. 2006 Feb 28;6:46. doi: 10.1186/1471-2407-6-46.
24. Sex differences in lumbar spinal cord gene expression following experimental lumbar radiculopathy. LaCroix-Fralish ML, etal., J Mol Neurosci. 2006;30(3):283-95.
25. Prognostic significance of serum ERBB3 and ERBB4 mRNA in lung adenocarcinoma patients. Masroor M, etal., Tumour Biol. 2016 Jan;37(1):857-63. doi: 10.1007/s13277-015-3859-3. Epub 2015 Aug 9.
26. Gene-specific inhibition of breast carcinoma in BALB-neuT mice by active immunization with rat Neu or human ErbB receptors. Masuelli L, etal., Int J Oncol. 2007 Feb;30(2):381-92.
27. The relation between survival and expression of HER1 and HER2 depends on the expression of HER3 and HER4: a study in bladder cancer patients. Memon AA, etal., Br J Cancer. 2006 Jun 5;94(11):1703-9.
28. Neuregulins and cancer. Montero JC, etal., Clin Cancer Res. 2008 Jun 1;14(11):3237-41. doi: 10.1158/1078-0432.CCR-07-5133.
29. Denervation and reinnervation of adult skeletal muscle modulate mRNA expression of neuregulin-1 and ErbB receptors. Nicolino S, etal., Microsurgery. 2009;29(6):464-72. doi: 10.1002/micr.20636.
30. Overexpression of ErbB4 is an independent marker for lymph node metastasis in Japanese patients with oral squamous cell carcinoma. Ohashi Y, etal., Oral Surg Oral Med Oral Pathol Oral Radiol. 2016 Sep;122(3):313-21. doi: 10.1016/j.oooo.2016.04.017. Epub 2016 May 11.
31. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
32. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
33. MicroRNAs related polymorphisms and genetic susceptibility to esophageal squamous cell carcinoma. Qu Y, etal., Mol Genet Genomics. 2014 Dec;289(6):1123-30. doi: 10.1007/s00438-014-0873-x. Epub 2014 Jun 12.
34. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
35. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
36. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
37. Neuregulin in cardiac hypertrophy in rats with aortic stenosis. Differential expression of erbB2 and erbB4 receptors. Rohrbach S, etal., Circulation. 1999 Jul 27;100(4):407-12.
38. A novel polymorphism in the promoter region of ERBB4 is associated with breast and colorectal cancer risk. Rokavec M, etal., Clin Cancer Res. 2007 Dec 15;13(24):7506-14.
39. Cytogenetic analysis of HER1/EGFR, HER2, HER3 and HER4 in 278 breast cancer patients. Sassen A, etal., Breast Cancer Res. 2008 Jan 8;10(1):R2.
40. ErbB receptors and fatty acid synthase expression in aggressive head and neck squamous cell carcinomas. Silva SD, etal., Oral Dis. 2010 Nov;16(8):774-80. doi: 10.1111/j.1601-0825.2010.01687.x.
41. Expression of the c-erbB-3/HER-3 and c-erbB-4/HER-4 growth factor receptors and their ligands, neuregulin-1 alpha, neuregulin-1 beta, and betacellulin, in normal endometrium and endometrial cancer. Srinivasan R, etal., Clin Cancer Res. 1999 Oct;5(10):2877-83.
42. Phyllodes tumor of the breast: EGFR family expression and relation to clinicopathological features. Suo Z and Nesland JM, Ultrastruct Pathol. 2000 Nov-Dec;24(6):371-81.
43. Neuregulin 1 represses limbic epileptogenesis through ErbB4 in parvalbumin-expressing interneurons. Tan GH, etal., Nat Neurosci. 2011 Dec 11;15(2):258-66. doi: 10.1038/nn.3005.
44. ErbB4 is downregulated in renal cell carcinoma--a quantitative RT-PCR and immunohistochemical analysis of the epidermal growth factor receptor family. Thomasson M, etal., Acta Oncol. 2004;43(5):453-9.
45. Nuclear translocation of HER-4/c-erbB-4 is significantly correlated with prognosis of esophageal squamous cell carcinoma. Xu S, etal., J Surg Oncol. 2008 Jan 1;97(1):44-50. doi: 10.1002/jso.20892.
46. Upregulation of erbB receptors in rat brain after middle cerebral arterial occlusion. Xu Z and Ford BD, Neurosci Lett. 2005 Mar 3;375(3):181-6. Epub 2004 Dec 16.
47. ErbB4 protects against neuronal apoptosis via activation of YAP/PIK3CB signaling pathway in a rat model of subarachnoid hemorrhage. Yan F, etal., Exp Neurol. 2017 Nov;297:92-100. doi: 10.1016/j.expneurol.2017.07.014. Epub 2017 Jul 27.
48. A polymorphism within ErbB4 is associated with risk for hepatocellular carcinoma in Chinese population. Yu Q, etal., World J Gastroenterol. 2012 Jan 28;18(4):383-7. doi: 10.3748/wjg.v18.i4.383.
Additional References at PubMed
PMID:7689552   PMID:7700649   PMID:7721889   PMID:8062828   PMID:8383326   PMID:8617750   PMID:8619474   PMID:8816440   PMID:9019162   PMID:9110174   PMID:9135143   PMID:9168114  
PMID:9168115   PMID:9230911   PMID:9275162   PMID:9334263   PMID:9419975   PMID:9516479   PMID:9565587   PMID:9771476   PMID:10348342   PMID:10353604   PMID:10572067   PMID:10722704  
PMID:10725395   PMID:10839362   PMID:10918572   PMID:11254912   PMID:11278868   PMID:11679632   PMID:11741961   PMID:11825873   PMID:11867753   PMID:12175853   PMID:12297288   PMID:12454007  
PMID:12466964   PMID:12477932   PMID:12528817   PMID:12532415   PMID:12637154   PMID:12646923   PMID:12648466   PMID:12678544   PMID:12716924   PMID:12807903   PMID:12869563   PMID:12939402  
PMID:14702039   PMID:15023535   PMID:15026342   PMID:15084248   PMID:15248827   PMID:15282549   PMID:15345710   PMID:15358134   PMID:15489334   PMID:15534001   PMID:15562026   PMID:15685397  
PMID:15735025   PMID:15746097   PMID:15863494   PMID:15979989   PMID:15985438   PMID:16061658   PMID:16170367   PMID:16187281   PMID:16203964   PMID:16249994   PMID:16251361   PMID:16273093  
PMID:16402353   PMID:16428439   PMID:16463386   PMID:16477370   PMID:16518842   PMID:16606438   PMID:16729043   PMID:16767099   PMID:16778220   PMID:16819515   PMID:16832345   PMID:16837552  
PMID:16842254   PMID:16878160   PMID:16891421   PMID:16912174   PMID:16914727   PMID:16934755   PMID:17018285   PMID:17120616   PMID:17164265   PMID:17177598   PMID:17360433   PMID:17460065  
PMID:17463226   PMID:17487277   PMID:17505063   PMID:17579610   PMID:17598910   PMID:17638867   PMID:17681096   PMID:17761534   PMID:17903305   PMID:17909041   PMID:17945187   PMID:17969526  
PMID:18029348   PMID:18334220   PMID:18334649   PMID:18335053   PMID:18424286   PMID:18662768   PMID:18668031   PMID:18721752   PMID:18973758   PMID:18985033   PMID:19017278   PMID:19047365  
PMID:19098003   PMID:19148499   PMID:19171023   PMID:19193720   PMID:19240061   PMID:19263517   PMID:19367581   PMID:19390858   PMID:19439407   PMID:19447869   PMID:19481955   PMID:19561640  
PMID:19596786   PMID:19609946   PMID:19624808   PMID:19718025   PMID:19736351   PMID:19808643   PMID:19913121   PMID:20022944   PMID:20029029   PMID:20126551   PMID:20204273   PMID:20227043  
PMID:20301623   PMID:20303366   PMID:20379614   PMID:20446891   PMID:20550710   PMID:20585313   PMID:20600594   PMID:20603612   PMID:20628086   PMID:20858735   PMID:20881644   PMID:20886074  
PMID:20921115   PMID:20943952   PMID:20975381   PMID:21203579   PMID:21203803   PMID:21217148   PMID:21232925   PMID:21233683   PMID:21290564   PMID:21407808   PMID:21422241   PMID:21483438  
PMID:21547347   PMID:21637803   PMID:21664604   PMID:21805036   PMID:21832192   PMID:21873635   PMID:21993442   PMID:22012915   PMID:22115776   PMID:22308027   PMID:22327010   PMID:22378872  
PMID:22415601   PMID:22452962   PMID:22504067   PMID:22549119   PMID:22554477   PMID:22584572   PMID:22606006   PMID:22634065   PMID:22699492   PMID:22739235   PMID:22761786   PMID:22854050  
PMID:22891299   PMID:22939624   PMID:22973453   PMID:23028342   PMID:23100016   PMID:23123776   PMID:23137868   PMID:23153581   PMID:23230144   PMID:23237222   PMID:23301017   PMID:23313737  
PMID:23333248   PMID:23340734   PMID:23382219   PMID:23395558   PMID:23432624   PMID:23543049   PMID:23681745   PMID:23723069   PMID:23870195   PMID:23903073   PMID:23927961   PMID:23991224  
PMID:23999525   PMID:24015958   PMID:24063248   PMID:24119685   PMID:24159190   PMID:24308844   PMID:24318637   PMID:24333426   PMID:24338375   PMID:24366194   PMID:24438167   PMID:24469061  
PMID:24529757   PMID:24550385   PMID:24557338   PMID:24636039   PMID:24658140   PMID:24824216   PMID:24829397   PMID:24862237   PMID:24893630   PMID:24901400   PMID:24927194   PMID:25003574  
PMID:25036186   PMID:25036637   PMID:25052836   PMID:25133637   PMID:25140053   PMID:25142529   PMID:25216938   PMID:25283809   PMID:25315821   PMID:25335735   PMID:25391651   PMID:25416285  
PMID:25468910   PMID:25492964   PMID:25492965   PMID:25516216   PMID:25681686   PMID:25731189   PMID:25740878   PMID:25744101   PMID:25916654   PMID:26021752   PMID:26050618   PMID:26238412  
PMID:26337038   PMID:26365191   PMID:26418945   PMID:26463425   PMID:26535009   PMID:26648299   PMID:26701850   PMID:26780728   PMID:26844763   PMID:26886748   PMID:26907936   PMID:27035115  
PMID:27069134   PMID:27207775   PMID:27262100   PMID:27285994   PMID:27323039   PMID:27324647   PMID:27536774   PMID:27568101   PMID:27609473   PMID:27621269   PMID:27648936   PMID:27736797  
PMID:27777309   PMID:28065597   PMID:28077374   PMID:28178720   PMID:28195137   PMID:28225484   PMID:28273943   PMID:28319085   PMID:28359267   PMID:28384043   PMID:28394697   PMID:28425244  
PMID:28467773   PMID:28508829   PMID:28629469   PMID:28653892   PMID:28670936   PMID:28851073   PMID:28892072   PMID:28974580   PMID:28988771   PMID:29125883   PMID:29190819   PMID:29309357  
PMID:29319907   PMID:29342193   PMID:29353061   PMID:29410073   PMID:29453196   PMID:29524631   PMID:29620274   PMID:29705689   PMID:29973587   PMID:30021884   PMID:30083275   PMID:30120408  
PMID:30336339   PMID:30360226   PMID:30452622   PMID:30458882   PMID:30898150   PMID:31053301   PMID:31124187   PMID:31291965   PMID:31400925   PMID:31753913   PMID:31960146   PMID:31980649  
PMID:32065797   PMID:32181480   PMID:32235678   PMID:32289280   PMID:32319604   PMID:32561640   PMID:32716031   PMID:33038488   PMID:33219358   PMID:33378376   PMID:33603162   PMID:33722543  
PMID:34057019   PMID:34079125   PMID:34106605   PMID:34226493   PMID:34247340   PMID:34247489   PMID:34435526   PMID:34620079   PMID:34667159   PMID:34794066   PMID:34885957   PMID:34971015  
PMID:34982356   PMID:35044719   PMID:35130572   PMID:35157673   PMID:35166983   PMID:35384245   PMID:35579602   PMID:36411648   PMID:36427180   PMID:36584483   PMID:36931259   PMID:37196148  
PMID:37290686   PMID:37369570   PMID:38063127   PMID:38149095  


Genomics

Comparative Map Data
ERBB4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382211,375,717 - 212,538,802 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2211,375,717 - 212,538,841 (-)EnsemblGRCh38hg38GRCh38
GRCh372212,240,442 - 213,403,526 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362211,948,687 - 213,111,597 (-)NCBINCBI36Build 36hg18NCBI36
Build 342212,072,320 - 213,228,793NCBI
Celera2206,008,419 - 207,168,130 (-)NCBICelera
Cytogenetic Map2q34NCBI
HuRef2204,087,816 - 205,252,852 (-)NCBIHuRef
CHM1_12212,246,189 - 213,409,602 (-)NCBICHM1_1
T2T-CHM13v2.02211,856,201 - 213,019,445 (-)NCBIT2T-CHM13v2.0
Erbb4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39168,071,063 - 69,147,756 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl168,071,345 - 69,147,218 (-)EnsemblGRCm39 Ensembl
GRCm38168,031,884 - 69,108,576 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl168,032,186 - 69,108,059 (-)EnsemblGRCm38mm10GRCm38
MGSCv37168,086,540 - 69,154,633 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36167,973,174 - 69,041,267 (-)NCBIMGSCv36mm8
Celera168,604,658 - 69,678,621 (-)NCBICelera
Cytogenetic Map1C3NCBI
cM Map133.8NCBI
Erbb4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8976,973,386 - 78,045,633 (-)NCBIGRCr8
mRatBN7.2969,523,733 - 70,596,743 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl969,531,481 - 70,596,595 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx978,025,868 - 79,086,390 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0983,154,766 - 84,215,249 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0981,560,145 - 82,620,859 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0975,021,790 - 76,178,936 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl975,021,790 - 75,528,644 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0974,804,287 - 75,310,350 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4966,843,898 - 67,967,970 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1966,990,879 - 68,114,952 (-)NCBI
Celera967,006,553 - 68,064,842 (-)NCBICelera
Cytogenetic Map9q32-q33NCBI
Erbb4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554573,177,991 - 4,228,558 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554573,177,905 - 4,236,152 (+)NCBIChiLan1.0ChiLan1.0
ERBB4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213113,991,295 - 115,165,716 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B114,006,258 - 115,180,343 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B98,625,630 - 99,795,371 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B217,107,266 - 218,272,621 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B217,069,644 - 218,272,006 (-)Ensemblpanpan1.1panPan2
ERBB4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13719,029,647 - 20,134,576 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3719,037,217 - 20,134,426 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3719,902,993 - 21,014,297 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03718,975,969 - 20,127,356 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3718,980,387 - 20,127,189 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13718,924,908 - 20,033,426 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03718,881,529 - 19,982,057 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03718,890,858 - 19,999,263 (-)NCBIUU_Cfam_GSD_1.0
Erbb4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303167,518,016 - 168,559,414 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365864,066,498 - 5,100,035 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365864,065,767 - 5,100,690 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ERBB4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15113,974,437 - 115,096,565 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115113,966,573 - 115,096,984 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215125,910,709 - 126,652,753 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ERBB4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11097,099,090 - 98,281,697 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666040101,138,707 - 102,297,290 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Erbb4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247653,613,379 - 4,734,585 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247653,612,781 - 4,742,219 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ERBB4
435 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005235.2(ERBB4):c.2867-117A>T single nucleotide variant Lung cancer [RCV000091866] Chr2:211422221 [GRCh38]
Chr2:212286946 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.2(ERBB4):c.1623-2294C>T single nucleotide variant Lung cancer [RCV000091867] Chr2:211675551 [GRCh38]
Chr2:212540276 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.2(ERBB4):c.556+8440A>T single nucleotide variant Lung cancer [RCV000091868] Chr2:211779585 [GRCh38]
Chr2:212644310 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.2(ERBB4):c.421+37267G>T single nucleotide variant Lung cancer [RCV000091869] Chr2:211910163 [GRCh38]
Chr2:212774888 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.2(ERBB4):c.421+31215A>G single nucleotide variant Lung cancer [RCV000091870] Chr2:211916215 [GRCh38]
Chr2:212780940 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.2(ERBB4):c.421+11318G>T single nucleotide variant Lung cancer [RCV000091871] Chr2:211936112 [GRCh38]
Chr2:212800837 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.2(ERBB4):c.83-47635C>T single nucleotide variant Lung cancer [RCV000091872] Chr2:212172538 [GRCh38]
Chr2:213037263 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.2(ERBB4):c.82+76294T>C single nucleotide variant Lung cancer [RCV000091874] Chr2:212462155 [GRCh38]
Chr2:213326879 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.2780G>A (p.Arg927Gln) single nucleotide variant Amyotrophic lateral sclerosis type 19 [RCV000074382]|not provided [RCV000054812] Chr2:211424241 [GRCh38]
Chr2:212288966 [GRCh37]
Chr2:2q34
pathogenic
NM_005235.3(ERBB4):c.3823C>T (p.Arg1275Trp) single nucleotide variant Amyotrophic lateral sclerosis type 19 [RCV000074383]|not provided [RCV000054813] Chr2:211383719 [GRCh38]
Chr2:212248444 [GRCh37]
Chr2:2q34
pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
GRCh38/hg38 2q33.1-34(chr2:198095810-211803453)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|See cases [RCV000052603] Chr2:198095810..211803453 [GRCh38]
Chr2:198960534..212668178 [GRCh37]
Chr2:198668779..212376423 [NCBI36]
Chr2:2q33.1-34
pathogenic
GRCh38/hg38 2q33.2-35(chr2:203010732-214671878)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052607]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052607]|See cases [RCV000052607] Chr2:203010732..214671878 [GRCh38]
Chr2:203875455..215536602 [GRCh37]
Chr2:203583700..215244847 [NCBI36]
Chr2:2q33.2-35
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
NM_005235.2(ERBB4):c.2131C>T (p.Arg711Cys) single nucleotide variant Malignant melanoma [RCV000065398] Chr2:211623993 [GRCh38]
Chr2:212488718 [GRCh37]
Chr2:212196963 [NCBI36]
Chr2:2q34
not provided
NM_005235.3(ERBB4):c.1630C>T (p.Arg544Trp) single nucleotide variant Melanoma [RCV000422332] Chr2:211673250 [GRCh38]
Chr2:212537975 [GRCh37]
Chr2:212246220 [NCBI36]
Chr2:2q34
likely pathogenic|not provided
NM_005235.3(ERBB4):c.949G>A (p.Glu317Lys) single nucleotide variant Melanoma [RCV000435571] Chr2:211713583 [GRCh38]
Chr2:212578308 [GRCh37]
Chr2:212286553 [NCBI36]
Chr2:2q34
likely pathogenic|not provided
NM_005235.2(ERBB4):c.422-1G>A single nucleotide variant Malignant melanoma [RCV000065401] Chr2:211788160 [GRCh38]
Chr2:212652885 [GRCh37]
Chr2:212361130 [NCBI36]
Chr2:2q34
not provided
NM_005235.2(ERBB4):c.3648G>A (p.Leu1216=) single nucleotide variant Malignant melanoma [RCV000060484] Chr2:211383894 [GRCh38]
Chr2:212248619 [GRCh37]
Chr2:211956864 [NCBI36]
Chr2:2q34
not provided
NM_005235.2(ERBB4):c.2806G>A (p.Gly936Arg) single nucleotide variant Malignant melanoma [RCV000060485] Chr2:211424215 [GRCh38]
Chr2:212288940 [GRCh37]
Chr2:211997185 [NCBI36]
Chr2:2q34
not provided
NM_005235.2(ERBB4):c.2098C>T (p.Pro700Ser) single nucleotide variant Malignant melanoma [RCV000060486] Chr2:211624026 [GRCh38]
Chr2:212488751 [GRCh37]
Chr2:212196996 [NCBI36]
Chr2:2q34
not provided
NM_005235.2(ERBB4):c.1687G>A (p.Glu563Lys) single nucleotide variant Malignant melanoma [RCV000060487] Chr2:211673193 [GRCh38]
Chr2:212537918 [GRCh37]
Chr2:212246163 [NCBI36]
Chr2:2q34
not provided
NM_005235.2(ERBB4):c.1022C>T (p.Ser341Leu) single nucleotide variant Malignant melanoma [RCV000060488] Chr2:211712152 [GRCh38]
Chr2:212576877 [GRCh37]
Chr2:212285122 [NCBI36]
Chr2:2q34
not provided
NM_005235.3(ERBB4):c.2706C>T (p.Asp902=) single nucleotide variant not provided [RCV000087212] Chr2:211428421 [GRCh38]
Chr2:212293146 [GRCh37]
Chr2:2q34
likely benign|uncertain significance
NM_005235.3(ERBB4):c.3195A>G (p.Val1065=) single nucleotide variant not provided [RCV001694135]|not specified [RCV001579815] Chr2:211387139 [GRCh38]
Chr2:212251864 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.1354G>A (p.Glu452Lys) single nucleotide variant Melanoma [RCV000443453] Chr2:211702102 [GRCh38]
Chr2:212566827 [GRCh37]
Chr2:212275072 [NCBI36]
Chr2:2q34
likely pathogenic|not provided
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3
pathogenic
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2
pathogenic
GRCh38/hg38 2q34(chr2:211495527-211547980)x1 copy number loss See cases [RCV000140139] Chr2:211495527..211547980 [GRCh38]
Chr2:212360252..212412705 [GRCh37]
Chr2:212068497..212120950 [NCBI36]
Chr2:2q34
benign
GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1 copy number loss See cases [RCV000141254] Chr2:192938826..215705052 [GRCh38]
Chr2:193803552..216569775 [GRCh37]
Chr2:193511797..216278020 [NCBI36]
Chr2:2q32.3-35
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
Single allele deletion Small for gestational age [RCV000161241] Chr2:213173172..213192268 [GRCh37]
Chr2:2q34
not provided
NM_005235.2(ERBB4):c.83-202639_83-194067del deletion Large for gestational age [RCV000161243]|Normal pregnancy [RCV000161242] Chr2:213183695..213192267 [GRCh37]
Chr2:2q34
not provided
NM_005235.2(ERBB4):c.83-200865_83-194068del deletion Gestational diabetes mellitus uncontrolled [RCV000161244] Chr2:213183696..213190493 [GRCh37]
Chr2:2q34
not provided
NM_005235.2(ERBB4):c.83-201761_83-197406del deletion Large for gestational age [RCV000161245]|Normal pregnancy [RCV000161246] Chr2:213187034..213191389 [GRCh37]
Chr2:2q34
not provided
NM_005235.2(ERBB4):c.83-200864_83-199104del deletion Normal pregnancy [RCV000161247] Chr2:213188732..213190492 [GRCh37]
Chr2:2q34
not provided
GRCh37/hg19 2q34-35(chr2:211515125-215797412)x3 copy number gain Ductal breast carcinoma [RCV000207327] Chr2:211515125..215797412 [GRCh37]
Chr2:2q34-35
pathogenic|uncertain significance
NM_005235.3(ERBB4):c.119_120del (p.Leu39_Ser40insTer) microsatellite Inborn genetic diseases [RCV000623142] Chr2:212124866..212124867 [GRCh38]
Chr2:212989591..212989592 [GRCh37]
Chr2:2q34
likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_005235.3(ERBB4):c.1624G>A (p.Glu542Lys) single nucleotide variant Melanoma [RCV000431732] Chr2:211673256 [GRCh38]
Chr2:212537981 [GRCh37]
Chr2:2q34
likely pathogenic
NM_005235.3(ERBB4):c.1177C>T (p.Arg393Trp) single nucleotide variant Melanoma [RCV000424857] Chr2:211705339 [GRCh38]
Chr2:212570064 [GRCh37]
Chr2:2q34
likely pathogenic
NM_005235.3(ERBB4):c.2614G>A (p.Glu872Lys) single nucleotide variant Melanoma [RCV000444455] Chr2:211430974 [GRCh38]
Chr2:212295699 [GRCh37]
Chr2:2q34
likely pathogenic
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 copy number gain See cases [RCV000448271] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q34(chr2:212461116-213344955)x1 copy number loss See cases [RCV000510229] Chr2:212461116..213344955 [GRCh37]
Chr2:2q34
uncertain significance
GRCh37/hg19 2q34(chr2:212693376-214021458)x3 copy number gain See cases [RCV000510408] Chr2:212693376..214021458 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.2524C>T (p.Arg842Trp) single nucleotide variant not provided [RCV000509307] Chr2:211431064 [GRCh38]
Chr2:212295789 [GRCh37]
Chr2:2q34
not provided
GRCh37/hg19 2q34(chr2:212384649-214064185)x1 copy number loss See cases [RCV000510236] Chr2:212384649..214064185 [GRCh37]
Chr2:2q34
likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_005235.3(ERBB4):c.1973T>C (p.Ile658Thr) single nucleotide variant not provided [RCV003312517] Chr2:211630568 [GRCh38]
Chr2:212495293 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.641C>G (p.Ala214Gly) single nucleotide variant Inborn genetic diseases [RCV003286235] Chr2:211725176 [GRCh38]
Chr2:212589901 [GRCh37]
Chr2:2q34
uncertain significance
GRCh37/hg19 2q34(chr2:213092401-213187551)x1 copy number loss not provided [RCV000681998] Chr2:213092401..213187551 [GRCh37]
Chr2:2q34
uncertain significance
GRCh37/hg19 2q34(chr2:212678164-212895911)x1 copy number loss not provided [RCV000682036] Chr2:212678164..212895911 [GRCh37]
Chr2:2q34
uncertain significance
GRCh37/hg19 2q34(chr2:212818448-213065294)x1 copy number loss not provided [RCV000682043] Chr2:212818448..213065294 [GRCh37]
Chr2:2q34
uncertain significance
GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3 copy number gain not provided [RCV000682166] Chr2:205169148..219149293 [GRCh37]
Chr2:2q33.3-35
pathogenic
Single allele deletion Trichorhinophalangeal dysplasia type I [RCV000735899] Chr2:212551755..214880375 [GRCh37]
Chr2:2q34
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q34(chr2:212181355-213012607)x3 copy number gain not provided [RCV000740862] Chr2:212181355..213012607 [GRCh37]
Chr2:2q34
likely benign
GRCh37/hg19 2q34(chr2:212351521-212416029)x1 copy number loss not provided [RCV000740863] Chr2:212351521..212416029 [GRCh37]
Chr2:2q34
benign
GRCh37/hg19 2q34(chr2:212356992-212414621)x1 copy number loss not provided [RCV000740864] Chr2:212356992..212414621 [GRCh37]
Chr2:2q34
benign
GRCh37/hg19 2q34(chr2:212377759-212739861)x1 copy number loss not provided [RCV000740865] Chr2:212377759..212739861 [GRCh37]
Chr2:2q34
likely benign
GRCh37/hg19 2q34(chr2:212914726-212975953)x3 copy number gain not provided [RCV000740866] Chr2:212914726..212975953 [GRCh37]
Chr2:2q34
benign
GRCh37/hg19 2q34(chr2:213187368-213193424)x1 copy number loss not provided [RCV000740867] Chr2:213187368..213193424 [GRCh37]
Chr2:2q34
benign
GRCh37/hg19 2q34(chr2:213187368-213194405)x1 copy number loss not provided [RCV000740868] Chr2:213187368..213194405 [GRCh37]
Chr2:2q34
benign
GRCh37/hg19 2q34(chr2:213354898-213386112)x0 copy number loss not provided [RCV000740869] Chr2:213354898..213386112 [GRCh37]
Chr2:2q34
benign
GRCh37/hg19 2q34(chr2:213358246-213386112)x1 copy number loss not provided [RCV000740870] Chr2:213358246..213386112 [GRCh37]
Chr2:2q34
benign
GRCh37/hg19 2q34(chr2:213370272-213370806)x1 copy number loss not provided [RCV000740871] Chr2:213370272..213370806 [GRCh37]
Chr2:2q34
benign
GRCh37/hg19 2q34(chr2:213370272-213387389)x1 copy number loss not provided [RCV000740872] Chr2:213370272..213387389 [GRCh37]
Chr2:2q34
benign
GRCh37/hg19 2q34(chr2:213370272-213391735)x1 copy number loss not provided [RCV000740873] Chr2:213370272..213391735 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.234+169A>G single nucleotide variant not provided [RCV001667584] Chr2:212124583 [GRCh38]
Chr2:212989308 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.2643+178del deletion not provided [RCV001648578] Chr2:211430767 [GRCh38]
Chr2:212295492 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.2964+266_2964+269dup duplication not provided [RCV001612702] Chr2:211421737..211421738 [GRCh38]
Chr2:212286462..212286463 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.3639C>T (p.Ala1213=) single nucleotide variant not provided [RCV000896779] Chr2:211383903 [GRCh38]
Chr2:212248628 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.1489+142A>G single nucleotide variant not provided [RCV001535212] Chr2:211701825 [GRCh38]
Chr2:212566550 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.2518G>A (p.Val840Ile) single nucleotide variant Amyotrophic lateral sclerosis [RCV001095443] Chr2:211431070 [GRCh38]
Chr2:212295795 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.1946+244del deletion not provided [RCV001648130] Chr2:211657510 [GRCh38]
Chr2:212522235 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.429A>G (p.Leu143=) single nucleotide variant not provided [RCV000885135] Chr2:211788152 [GRCh38]
Chr2:212652877 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.1404T>C (p.Tyr468=) single nucleotide variant not provided [RCV000923865] Chr2:211702052 [GRCh38]
Chr2:212566777 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.1717-7A>G single nucleotide variant not provided [RCV000927996] Chr2:211665484 [GRCh38]
Chr2:212530209 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.2965-9T>G single nucleotide variant not provided [RCV000928629] Chr2:211420620 [GRCh38]
Chr2:212285345 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.2172T>C (p.Leu724=) single nucleotide variant not provided [RCV000903931] Chr2:211623952 [GRCh38]
Chr2:212488677 [GRCh37]
Chr2:2q34
benign|likely benign
NM_005235.3(ERBB4):c.2080-9G>A single nucleotide variant not provided [RCV000973122] Chr2:211624053 [GRCh38]
Chr2:212488778 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.1623-5C>T single nucleotide variant not provided [RCV000970957] Chr2:211673262 [GRCh38]
Chr2:212537987 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.3594C>T (p.Ala1198=) single nucleotide variant not provided [RCV000901359] Chr2:211383948 [GRCh38]
Chr2:212248673 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.884-7del deletion Amyotrophic lateral sclerosis type 19 [RCV001664564]|not provided [RCV000948251] Chr2:211713655 [GRCh38]
Chr2:212578380 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.2202A>G (p.Lys734=) single nucleotide variant not provided [RCV000946670] Chr2:211623922 [GRCh38]
Chr2:212488647 [GRCh37]
Chr2:2q34
benign
GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3 copy number gain See cases [RCV000790568] Chr2:210779657..239879183 [GRCh37]
Chr2:2q34-37.3
pathogenic
NM_005235.3(ERBB4):c.3888G>T (p.Leu1296=) single nucleotide variant not provided [RCV000927989] Chr2:211383654 [GRCh38]
Chr2:212248379 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.3573A>T (p.Ala1191=) single nucleotide variant not provided [RCV000894775] Chr2:211383969 [GRCh38]
Chr2:212248694 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.2418G>A (p.Glu806=) single nucleotide variant not provided [RCV000925200] Chr2:211561972 [GRCh38]
Chr2:212426697 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.1179G>A (p.Arg393=) single nucleotide variant not provided [RCV000908795] Chr2:211705337 [GRCh38]
Chr2:212570062 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.3708G>A (p.Ala1236=) single nucleotide variant not provided [RCV000918520] Chr2:211383834 [GRCh38]
Chr2:212248559 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.1024T>C (p.Leu342=) single nucleotide variant not provided [RCV000895049] Chr2:211712150 [GRCh38]
Chr2:212576875 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.1296G>A (p.Leu432=) single nucleotide variant not provided [RCV000916377] Chr2:211702160 [GRCh38]
Chr2:212566885 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.2745C>T (p.Thr915=) single nucleotide variant not provided [RCV000966300] Chr2:211424276 [GRCh38]
Chr2:212289001 [GRCh37]
Chr2:2q34
benign|likely benign
NM_005235.3(ERBB4):c.1170C>T (p.Asn390=) single nucleotide variant not provided [RCV000900926] Chr2:211705346 [GRCh38]
Chr2:212570071 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.882A>G (p.Pro294=) single nucleotide variant not provided [RCV000881984]|not specified [RCV001580120] Chr2:211722394 [GRCh38]
Chr2:212587119 [GRCh37]
Chr2:2q34
benign|likely benign
NM_005235.3(ERBB4):c.75T>G (p.Ser25=) single nucleotide variant not provided [RCV000978367] Chr2:212538456 [GRCh38]
Chr2:213403180 [GRCh37]
Chr2:2q34
likely benign
GRCh37/hg19 2q32.1-34(chr2:185697659-213002074) copy number loss Chromosome 2q32-q33 deletion syndrome [RCV002280608] Chr2:185697659..213002074 [GRCh37]
Chr2:2q32.1-34
pathogenic
GRCh37/hg19 2q34(chr2:212184096-212747758)x1 copy number loss not provided [RCV001005374] Chr2:212184096..212747758 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.1198+1G>T single nucleotide variant not provided [RCV003314078] Chr2:211705317 [GRCh38]
Chr2:212570042 [GRCh37]
Chr2:2q34
uncertain significance
GRCh37/hg19 2q34(chr2:212948125-213071114)x1 copy number loss not provided [RCV000848621] Chr2:212948125..213071114 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.731C>T (p.Thr244Ile) single nucleotide variant not provided [RCV001091192] Chr2:211725086 [GRCh38]
Chr2:212589811 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.2207T>A (p.Ile736Asn) single nucleotide variant Amyotrophic lateral sclerosis type 19 [RCV000987001] Chr2:211619271 [GRCh38]
Chr2:212483996 [GRCh37]
Chr2:2q34
likely pathogenic
NM_005235.3(ERBB4):c.3334C>T (p.Arg1112Cys) single nucleotide variant Amyotrophic lateral sclerosis type 19 [RCV001095390]|not provided [RCV001856284] Chr2:211387000 [GRCh38]
Chr2:212251725 [GRCh37]
Chr2:2q34
likely pathogenic|uncertain significance
NM_005235.3(ERBB4):c.785G>A (p.Cys262Tyr) single nucleotide variant NK-cell enteropathy [RCV000791313] Chr2:211722491 [GRCh38]
Chr2:212587216 [GRCh37]
Chr2:2q34
likely pathogenic
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2
pathogenic
NM_005235.3(ERBB4):c.1199-4G>A single nucleotide variant not provided [RCV000898076] Chr2:211704198 [GRCh38]
Chr2:212568923 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.1124+9T>G single nucleotide variant not provided [RCV000915998] Chr2:211712041 [GRCh38]
Chr2:212576766 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.158A>G (p.Tyr53Cys) single nucleotide variant Amyotrophic lateral sclerosis [RCV001095444] Chr2:212124828 [GRCh38]
Chr2:212989553 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.308G>A (p.Arg103His) single nucleotide variant Amyotrophic lateral sclerosis [RCV001095485]|ERBB4-related condition [RCV003396744]|not provided [RCV002554875] Chr2:211947543 [GRCh38]
Chr2:212812268 [GRCh37]
Chr2:2q34
benign|uncertain significance
GRCh37/hg19 2q34(chr2:212426791-212654480)x1 copy number loss not provided [RCV000847628] Chr2:212426791..212654480 [GRCh37]
Chr2:2q34
uncertain significance
GRCh37/hg19 2q34(chr2:213107280-213328411)x1 copy number loss not provided [RCV001007495] Chr2:213107280..213328411 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.1760C>G (p.Pro587Arg) single nucleotide variant Inborn genetic diseases [RCV003273656] Chr2:211665434 [GRCh38]
Chr2:212530159 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.622+22C>T single nucleotide variant not provided [RCV001687988] Chr2:211750617 [GRCh38]
Chr2:212615342 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.2719+167TTTTA[8] microsatellite not provided [RCV001638585] Chr2:211428211..211428212 [GRCh38]
Chr2:212292936..212292937 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.1490-118del deletion not provided [RCV001650698] Chr2:211679302 [GRCh38]
Chr2:212544027 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.3183+285del deletion not provided [RCV001678242] Chr2:211387660 [GRCh38]
Chr2:212252385 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.1947-28dup duplication Amyotrophic lateral sclerosis type 19 [RCV002502018]|not provided [RCV001675266] Chr2:211630611..211630612 [GRCh38]
Chr2:212495336..212495337 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.82+208_82+209insG insertion not provided [RCV001658951] Chr2:212538240..212538241 [GRCh38]
Chr2:213402964..213402965 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.1622+224T>C single nucleotide variant not provided [RCV001645477] Chr2:211678828 [GRCh38]
Chr2:212543553 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.623-311dup duplication not provided [RCV001645615] Chr2:211725503..211725504 [GRCh38]
Chr2:212590228..212590229 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.234+67C>G single nucleotide variant not provided [RCV001636416] Chr2:212124685 [GRCh38]
Chr2:212989410 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.82+82C>T single nucleotide variant not provided [RCV001720630] Chr2:212538367 [GRCh38]
Chr2:213403091 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.1489+183dup duplication not provided [RCV001612828] Chr2:211701756..211701757 [GRCh38]
Chr2:212566481..212566482 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.1622+192C>A single nucleotide variant not provided [RCV001620198] Chr2:211678860 [GRCh38]
Chr2:212543585 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.2719+167TTTTA[7] microsatellite not provided [RCV001649872] Chr2:211428211..211428212 [GRCh38]
Chr2:212292936..212292937 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.2643+171_2643+172insG insertion not provided [RCV001694459] Chr2:211430773..211430774 [GRCh38]
Chr2:212295498..212295499 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.1125-300G>A single nucleotide variant not provided [RCV001685278] Chr2:211705691 [GRCh38]
Chr2:212570416 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.1946+252G>A single nucleotide variant not provided [RCV001595487] Chr2:211657502 [GRCh38]
Chr2:212522227 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.557-87A>G single nucleotide variant not provided [RCV001656557] Chr2:211750791 [GRCh38]
Chr2:212615516 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.2080-102_2080-101insG insertion not provided [RCV001614515] Chr2:211624145..211624146 [GRCh38]
Chr2:212488870..212488871 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.1622+267A>G single nucleotide variant not provided [RCV001710971] Chr2:211678785 [GRCh38]
Chr2:212543510 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.742-62C>T single nucleotide variant not provided [RCV001616261] Chr2:211722596 [GRCh38]
Chr2:212587321 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.1947-17dup duplication not provided [RCV001609412] Chr2:211630610..211630611 [GRCh38]
Chr2:212495335..212495336 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.2643+192TA[4] microsatellite not provided [RCV001683771] Chr2:211430744..211430745 [GRCh38]
Chr2:212295469..212295470 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.1198+215G>A single nucleotide variant not provided [RCV001656770] Chr2:211705103 [GRCh38]
Chr2:212569828 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.235-199C>T single nucleotide variant not provided [RCV001621038] Chr2:211947815 [GRCh38]
Chr2:212812540 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.1122T>G (p.His374Gln) single nucleotide variant Amyotrophic lateral sclerosis [RCV001260199]|Amyotrophic lateral sclerosis type 19 [RCV001420686]|not provided [RCV000949889] Chr2:211712052 [GRCh38]
Chr2:212576777 [GRCh37]
Chr2:2q34
benign|likely benign|uncertain significance
NM_005235.3(ERBB4):c.1177C>A (p.Arg393=) single nucleotide variant not provided [RCV000907405] Chr2:211705339 [GRCh38]
Chr2:212570064 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.3630C>T (p.Asn1210=) single nucleotide variant not provided [RCV000938705] Chr2:211383912 [GRCh38]
Chr2:212248637 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.884-8_884-7del deletion not provided [RCV000954601] Chr2:211713655..211713656 [GRCh38]
Chr2:212578380..212578381 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.2613T>C (p.Asp871=) single nucleotide variant not provided [RCV000916854] Chr2:211430975 [GRCh38]
Chr2:212295700 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.3375C>G (p.Thr1125=) single nucleotide variant not provided [RCV000931161] Chr2:211386959 [GRCh38]
Chr2:212251684 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.3339G>A (p.Lys1113=) single nucleotide variant not provided [RCV000980857] Chr2:211386995 [GRCh38]
Chr2:212251720 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.2559T>C (p.Ser853=) single nucleotide variant not provided [RCV000931346] Chr2:211431029 [GRCh38]
Chr2:212295754 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.63G>A (p.Gln21=) single nucleotide variant not provided [RCV000909498] Chr2:212538468 [GRCh38]
Chr2:213403192 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.884-20dup duplication not provided [RCV000948621]|not specified [RCV001579929] Chr2:211713654..211713655 [GRCh38]
Chr2:212578379..212578380 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.1254T>A (p.Ser418=) single nucleotide variant not provided [RCV000910887] Chr2:211704139 [GRCh38]
Chr2:212568864 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.1362C>T (p.Ser454=) single nucleotide variant not provided [RCV000913341] Chr2:211702094 [GRCh38]
Chr2:212566819 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.1627T>A (p.Phe543Ile) single nucleotide variant not provided [RCV000935916] Chr2:211673253 [GRCh38]
Chr2:212537978 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.327A>G (p.Lys109=) single nucleotide variant not provided [RCV000911899] Chr2:211947524 [GRCh38]
Chr2:212812249 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.2694C>T (p.Thr898=) single nucleotide variant not provided [RCV000935816] Chr2:211428433 [GRCh38]
Chr2:212293158 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.653A>G (p.Asp218Gly) single nucleotide variant Inborn genetic diseases [RCV002836751] Chr2:211725164 [GRCh38]
Chr2:212589889 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.2965-7_2965-4del microsatellite not provided [RCV001647449]|not specified [RCV001579566] Chr2:211420615..211420618 [GRCh38]
Chr2:212285340..212285343 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.1198+164A>G single nucleotide variant not provided [RCV001620025] Chr2:211705154 [GRCh38]
Chr2:212569879 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.3136-307C>G single nucleotide variant not provided [RCV001656083] Chr2:211388299 [GRCh38]
Chr2:212253024 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.235-85T>A single nucleotide variant not provided [RCV001678338] Chr2:211947701 [GRCh38]
Chr2:212812426 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.3847G>T (p.Glu1283Ter) single nucleotide variant Lung cancer [RCV002465238] Chr2:211383695 [GRCh38]
Chr2:212248420 [GRCh37]
Chr2:2q34
pathogenic
NM_005235.3(ERBB4):c.3658G>T (p.Glu1220Ter) single nucleotide variant Lung cancer [RCV002465245] Chr2:211383884 [GRCh38]
Chr2:212248609 [GRCh37]
Chr2:2q34
pathogenic
NM_005235.3(ERBB4):c.1871+60C>T single nucleotide variant not provided [RCV001676536] Chr2:211665263 [GRCh38]
Chr2:212529988 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.1717-312A>G single nucleotide variant not provided [RCV001687219] Chr2:211665789 [GRCh38]
Chr2:212530514 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.1947-18del deletion not provided [RCV001638806] Chr2:211630612 [GRCh38]
Chr2:212495337 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.2867-240A>G single nucleotide variant not provided [RCV001597768] Chr2:211422344 [GRCh38]
Chr2:212287069 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.1489+202_1489+210del deletion not provided [RCV001678323] Chr2:211701757..211701765 [GRCh38]
Chr2:212566482..212566490 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.2487+40G>A single nucleotide variant not provided [RCV001718266] Chr2:211561863 [GRCh38]
Chr2:212426588 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.421+95A>G single nucleotide variant not provided [RCV001650378] Chr2:211947335 [GRCh38]
Chr2:212812060 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.998-79A>G single nucleotide variant not provided [RCV001686191] Chr2:211712255 [GRCh38]
Chr2:212576980 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.1947-24_1947-23insA insertion not provided [RCV001717962] Chr2:211630617..211630618 [GRCh38]
Chr2:212495342..212495343 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.2487+162T>G single nucleotide variant not provided [RCV001618186] Chr2:211561741 [GRCh38]
Chr2:212426466 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.1946+83A>G single nucleotide variant not provided [RCV001669948] Chr2:211657671 [GRCh38]
Chr2:212522396 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.2488-269C>G single nucleotide variant not provided [RCV001638325] Chr2:211431369 [GRCh38]
Chr2:212296094 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.2720-117del deletion not provided [RCV001621199] Chr2:211424418 [GRCh38]
Chr2:212289143 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.3136-238G>A single nucleotide variant not provided [RCV001594521] Chr2:211388230 [GRCh38]
Chr2:212252955 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.623-67A>G single nucleotide variant not provided [RCV001649672] Chr2:211725261 [GRCh38]
Chr2:212589986 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.421+58A>G single nucleotide variant not provided [RCV001681765] Chr2:211947372 [GRCh38]
Chr2:212812097 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.1198+60C>T single nucleotide variant not provided [RCV001684344] Chr2:211705258 [GRCh38]
Chr2:212569983 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.1622+205T>C single nucleotide variant not provided [RCV001691224] Chr2:211678847 [GRCh38]
Chr2:212543572 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.1198+119C>T single nucleotide variant not provided [RCV001713440] Chr2:211705199 [GRCh38]
Chr2:212569924 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.3481+249C>T single nucleotide variant not provided [RCV001643926] Chr2:211386604 [GRCh38]
Chr2:212251329 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.1622+217G>A single nucleotide variant not provided [RCV001714117] Chr2:211678835 [GRCh38]
Chr2:212543560 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.3136-186A>G single nucleotide variant not provided [RCV001610155] Chr2:211388178 [GRCh38]
Chr2:212252903 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.1872-98T>C single nucleotide variant not provided [RCV001670551] Chr2:211657926 [GRCh38]
Chr2:212522651 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.998-330A>G single nucleotide variant not provided [RCV001692658] Chr2:211712506 [GRCh38]
Chr2:212577231 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.83-313del deletion not provided [RCV001690493] Chr2:212125216 [GRCh38]
Chr2:212989941 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.*3388C>T single nucleotide variant not provided [RCV001614630] Chr2:211380227 [GRCh38]
Chr2:212244952 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.1489+205_1489+210del deletion not provided [RCV001666563] Chr2:211701757..211701762 [GRCh38]
Chr2:212566482..212566487 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.2301+114T>C single nucleotide variant not provided [RCV001611821] Chr2:211619063 [GRCh38]
Chr2:212483788 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.3135+63A>G single nucleotide variant not provided [RCV001696677] Chr2:211420378 [GRCh38]
Chr2:212285103 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.655G>A (p.Gly219Ser) single nucleotide variant Amyotrophic lateral sclerosis [RCV001095445] Chr2:211725162 [GRCh38]
Chr2:212589887 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.1490-15T>C single nucleotide variant Amyotrophic lateral sclerosis type 19 [RCV001658303]|not provided [RCV001638179]|not specified [RCV001579729] Chr2:211679199 [GRCh38]
Chr2:212543924 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.3176T>C (p.Met1059Thr) single nucleotide variant Amyotrophic lateral sclerosis [RCV001260200] Chr2:211387952 [GRCh38]
Chr2:212252677 [GRCh37]
Chr2:2q34
uncertain significance
GRCh37/hg19 2q33.2-34(chr2:204445619-212580788)x1 copy number loss not provided [RCV001258576] Chr2:204445619..212580788 [GRCh37]
Chr2:2q33.2-34
pathogenic
NM_005235.3(ERBB4):c.3814G>A (p.Gly1272Arg) single nucleotide variant Amyotrophic lateral sclerosis [RCV001260557] Chr2:211383728 [GRCh38]
Chr2:212248453 [GRCh37]
Chr2:2q34
likely pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3
pathogenic
NM_005235.3(ERBB4):c.2192C>T (p.Thr731Met) single nucleotide variant Amyotrophic lateral sclerosis type 19 [RCV001332583] Chr2:211623932 [GRCh38]
Chr2:212488657 [GRCh37]
Chr2:2q34
uncertain significance
GRCh37/hg19 2q34(chr2:213002887-213026083)x1 copy number loss See cases [RCV001270253] Chr2:213002887..213026083 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.2845G>A (p.Val949Ile) single nucleotide variant not provided [RCV001354805] Chr2:211424176 [GRCh38]
Chr2:212288901 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.2643+77dup duplication not provided [RCV001538871] Chr2:211430865..211430866 [GRCh38]
Chr2:212295590..212295591 [GRCh37]
Chr2:2q34
benign
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_005235.3(ERBB4):c.421+5G>A single nucleotide variant not provided [RCV001358453] Chr2:211947425 [GRCh38]
Chr2:212812150 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.1198+49T>A single nucleotide variant not provided [RCV001665025] Chr2:211705269 [GRCh38]
Chr2:212569994 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.2202+15A>G single nucleotide variant Amyotrophic lateral sclerosis type 19 [RCV002501869]|not provided [RCV001534269] Chr2:211623907 [GRCh38]
Chr2:212488632 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.3607G>T (p.Val1203Leu) single nucleotide variant not provided [RCV001579797] Chr2:211383935 [GRCh38]
Chr2:212248660 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.1490-171A>G single nucleotide variant not provided [RCV001692918] Chr2:211679355 [GRCh38]
Chr2:212544080 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.2964+50C>G single nucleotide variant not provided [RCV001666678] Chr2:211421957 [GRCh38]
Chr2:212286682 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.1490-284A>G single nucleotide variant not provided [RCV001688514] Chr2:211679468 [GRCh38]
Chr2:212544193 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.1717-264G>A single nucleotide variant not provided [RCV001695681] Chr2:211665741 [GRCh38]
Chr2:212530466 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.3184-292G>A single nucleotide variant not provided [RCV001688192] Chr2:211387442 [GRCh38]
Chr2:212252167 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.2302-237A>G single nucleotide variant not provided [RCV001684588] Chr2:211562325 [GRCh38]
Chr2:212427050 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.2719+204C>G single nucleotide variant not provided [RCV001682066] Chr2:211428204 [GRCh38]
Chr2:212292929 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.884-146T>A single nucleotide variant not provided [RCV001673609] Chr2:211713794 [GRCh38]
Chr2:212578519 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.2488-50G>A single nucleotide variant not provided [RCV001685037] Chr2:211431150 [GRCh38]
Chr2:212295875 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.1490-115C>T single nucleotide variant not provided [RCV001609601] Chr2:211679299 [GRCh38]
Chr2:212544024 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.3136-92C>T single nucleotide variant not provided [RCV001611999] Chr2:211388084 [GRCh38]
Chr2:212252809 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.1489+215C>T single nucleotide variant not provided [RCV001649610] Chr2:211701752 [GRCh38]
Chr2:212566477 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.1489+209_1489+210del deletion not provided [RCV001672188] Chr2:211701757..211701758 [GRCh38]
Chr2:212566482..212566483 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.2643+192T>C single nucleotide variant not provided [RCV001614075] Chr2:211430753 [GRCh38]
Chr2:212295478 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.1622+289C>T single nucleotide variant not provided [RCV001714817] Chr2:211678763 [GRCh38]
Chr2:212543488 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.623-339G>T single nucleotide variant not provided [RCV001687448] Chr2:211725533 [GRCh38]
Chr2:212590258 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.998-256T>C single nucleotide variant not provided [RCV001616469] Chr2:211712432 [GRCh38]
Chr2:212577157 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.883+148G>T single nucleotide variant not provided [RCV001619060] Chr2:211722245 [GRCh38]
Chr2:212586970 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.2719+167TTTTA[5] microsatellite not provided [RCV001670376] Chr2:211428212..211428216 [GRCh38]
Chr2:212292937..212292941 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.2867-105T>A single nucleotide variant not provided [RCV001688206] Chr2:211422209 [GRCh38]
Chr2:212286934 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.3305T>C (p.Phe1102Ser) single nucleotide variant Amyotrophic lateral sclerosis type 19 [RCV002243567] Chr2:211387029 [GRCh38]
Chr2:212251754 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.508C>T (p.Pro170Ser) single nucleotide variant Amyotrophic lateral sclerosis type 19 [RCV001809153] Chr2:211788073 [GRCh38]
Chr2:212652798 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.2443A>G (p.Ile815Val) single nucleotide variant Amyotrophic lateral sclerosis type 19 [RCV001809152] Chr2:211561947 [GRCh38]
Chr2:212426672 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.3613G>A (p.Glu1205Lys) single nucleotide variant not provided [RCV001964055] Chr2:211383929 [GRCh38]
Chr2:212248654 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.2079+5G>A single nucleotide variant not provided [RCV001872869] Chr2:211630457 [GRCh38]
Chr2:212495182 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.3152G>A (p.Ser1051Asn) single nucleotide variant not provided [RCV001987696] Chr2:211387976 [GRCh38]
Chr2:212252701 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.2719+4A>T single nucleotide variant ERBB4-related Non-syndromic intellectual disability or epilepsy [RCV001839089] Chr2:211428404 [GRCh38]
Chr2:212293129 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.3182G>A (p.Gly1061Glu) single nucleotide variant ERBB4-related condition [RCV003434333]|not provided [RCV001863795] Chr2:211387946 [GRCh38]
Chr2:212252671 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.82+91828_82+91864del deletion Schizophrenia [RCV002463541] Chr2:212446585..212446621 [GRCh38]
Chr2:213311309..213311345 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.587G>A (p.Arg196His) single nucleotide variant not provided [RCV002045197] Chr2:211750674 [GRCh38]
Chr2:212615399 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.1717G>A (p.Gly573Ser) single nucleotide variant not provided [RCV002044094] Chr2:211665477 [GRCh38]
Chr2:212530202 [GRCh37]
Chr2:2q34
uncertain significance
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436) copy number gain not specified [RCV002053265] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35
pathogenic
NM_005235.3(ERBB4):c.2136T>G (p.Ile712Met) single nucleotide variant not provided [RCV002041911] Chr2:211623988 [GRCh38]
Chr2:212488713 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.2674A>G (p.Ile892Val) single nucleotide variant ERBB4-related condition [RCV003401878]|not provided [RCV001945317] Chr2:211428453 [GRCh38]
Chr2:212293178 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.3635T>C (p.Phe1212Ser) single nucleotide variant not provided [RCV001871227] Chr2:211383907 [GRCh38]
Chr2:212248632 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.1662G>C (p.Glu554Asp) single nucleotide variant not provided [RCV001926472] Chr2:211673218 [GRCh38]
Chr2:212537943 [GRCh37]
Chr2:2q34
uncertain significance
GRCh37/hg19 2q34(chr2:213359350-213473331)x1 copy number loss not provided [RCV001832997] Chr2:213359350..213473331 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.3335G>A (p.Arg1112His) single nucleotide variant Frontotemporal dementia [RCV001848612]|not provided [RCV002543424] Chr2:211386999 [GRCh38]
Chr2:212251724 [GRCh37]
Chr2:2q34
likely pathogenic|uncertain significance
NM_005235.3(ERBB4):c.1810A>G (p.Ile604Val) single nucleotide variant not provided [RCV001928319] Chr2:211665384 [GRCh38]
Chr2:212530109 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.3337A>G (p.Lys1113Glu) single nucleotide variant Amyotrophic lateral sclerosis [RCV001843918] Chr2:211386997 [GRCh38]
Chr2:212251722 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.1328C>T (p.Thr443Ile) single nucleotide variant not provided [RCV002007033] Chr2:211702128 [GRCh38]
Chr2:212566853 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.2699A>G (p.Gln900Arg) single nucleotide variant not provided [RCV001986372] Chr2:211428428 [GRCh38]
Chr2:212293153 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.139C>T (p.Arg47Ter) single nucleotide variant not provided [RCV002002868] Chr2:212124847 [GRCh38]
Chr2:212989572 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.2742G>T (p.Met914Ile) single nucleotide variant not provided [RCV001948600] Chr2:211424279 [GRCh38]
Chr2:212289004 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.1829C>G (p.Pro610Arg) single nucleotide variant not provided [RCV002023531] Chr2:211665365 [GRCh38]
Chr2:212530090 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.1178G>A (p.Arg393Gln) single nucleotide variant ERBB4-related condition [RCV003408001]|not provided [RCV001997426] Chr2:211705338 [GRCh38]
Chr2:212570063 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.3446G>T (p.Gly1149Val) single nucleotide variant not provided [RCV001999397] Chr2:211386888 [GRCh38]
Chr2:212251613 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.283C>T (p.Arg95Cys) single nucleotide variant not provided [RCV001886762] Chr2:211947568 [GRCh38]
Chr2:212812293 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.1395C>A (p.Asn465Lys) single nucleotide variant ERBB4-related condition [RCV003407938]|not provided [RCV001916112] Chr2:211702061 [GRCh38]
Chr2:212566786 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.1571G>A (p.Arg524His) single nucleotide variant not provided [RCV001954586] Chr2:211679103 [GRCh38]
Chr2:212543828 [GRCh37]
Chr2:2q34
conflicting interpretations of pathogenicity|uncertain significance
NM_005235.3(ERBB4):c.3569A>G (p.Asn1190Ser) single nucleotide variant not provided [RCV002026096] Chr2:211383973 [GRCh38]
Chr2:212248698 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.1668C>G (p.Asp556Glu) single nucleotide variant not provided [RCV001995847] Chr2:211673212 [GRCh38]
Chr2:212537937 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.3115G>A (p.Ala1039Thr) single nucleotide variant not provided [RCV001936675] Chr2:211420461 [GRCh38]
Chr2:212285186 [GRCh37]
Chr2:2q34
uncertain significance
NC_000002.11:g.(?_212812135)_(212812361_?)del deletion not provided [RCV001879465] Chr2:212812135..212812361 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.1378A>C (p.Ile460Leu) single nucleotide variant not provided [RCV002031785] Chr2:211702078 [GRCh38]
Chr2:212566803 [GRCh37]
Chr2:2q34
uncertain significance
NC_000002.11:g.(?_212483882)_(212812361_?)dup duplication not provided [RCV001938964] Chr2:212483882..212812361 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.3859G>A (p.Glu1287Lys) single nucleotide variant not provided [RCV001940201] Chr2:211383683 [GRCh38]
Chr2:212248408 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.3824G>A (p.Arg1275Gln) single nucleotide variant not provided [RCV001956669] Chr2:211383718 [GRCh38]
Chr2:212248443 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.1441A>G (p.Ile481Val) single nucleotide variant Amyotrophic lateral sclerosis type 10 [RCV002463817]|not provided [RCV001921510] Chr2:211702015 [GRCh38]
Chr2:212566740 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.1993G>A (p.Val665Ile) single nucleotide variant not provided [RCV001997075] Chr2:211630548 [GRCh38]
Chr2:212495273 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.2397G>A (p.Met799Ile) single nucleotide variant not provided [RCV001971926] Chr2:211561993 [GRCh38]
Chr2:212426718 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.3416G>A (p.Arg1139Gln) single nucleotide variant not provided [RCV001905055] Chr2:211386918 [GRCh38]
Chr2:212251643 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.11C>A (p.Ala4Glu) single nucleotide variant not provided [RCV001981082] Chr2:212538520 [GRCh38]
Chr2:213403244 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.2974C>T (p.Arg992Cys) single nucleotide variant not provided [RCV001938121] Chr2:211420602 [GRCh38]
Chr2:212285327 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.2444T>C (p.Ile815Thr) single nucleotide variant not provided [RCV001972999] Chr2:211561946 [GRCh38]
Chr2:212426671 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.3253A>G (p.Thr1085Ala) single nucleotide variant not provided [RCV001879279] Chr2:211387081 [GRCh38]
Chr2:212251806 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.259G>A (p.Val87Met) single nucleotide variant not provided [RCV001991330] Chr2:211947592 [GRCh38]
Chr2:212812317 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.1088A>G (p.Asn363Ser) single nucleotide variant not provided [RCV001976967] Chr2:211712086 [GRCh38]
Chr2:212576811 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.2964+19T>C single nucleotide variant not provided [RCV002166566] Chr2:211421988 [GRCh38]
Chr2:212286713 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.2202+17G>T single nucleotide variant not provided [RCV002146609] Chr2:211623905 [GRCh38]
Chr2:212488630 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.741+16C>T single nucleotide variant not provided [RCV002186272] Chr2:211725060 [GRCh38]
Chr2:212589785 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.82+8C>T single nucleotide variant not provided [RCV002189282] Chr2:212538441 [GRCh38]
Chr2:213403165 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.915G>T (p.Val305=) single nucleotide variant not provided [RCV002206095] Chr2:211713617 [GRCh38]
Chr2:212578342 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.336G>A (p.Glu112=) single nucleotide variant not provided [RCV002144899] Chr2:211947515 [GRCh38]
Chr2:212812240 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.1947-16T>C single nucleotide variant not provided [RCV002125104] Chr2:211630610 [GRCh38]
Chr2:212495335 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.1947-14A>G single nucleotide variant not provided [RCV002166287] Chr2:211630608 [GRCh38]
Chr2:212495333 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.2644-4A>G single nucleotide variant not provided [RCV002164857] Chr2:211428487 [GRCh38]
Chr2:212293212 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.1947-19_1947-18dup duplication not provided [RCV002124644] Chr2:211630611..211630612 [GRCh38]
Chr2:212495336..212495337 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.2577C>T (p.Ile859=) single nucleotide variant not provided [RCV002073815] Chr2:211431011 [GRCh38]
Chr2:212295736 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.622+15G>A single nucleotide variant not provided [RCV002145665] Chr2:211750624 [GRCh38]
Chr2:212615349 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.1717-17dup duplication not provided [RCV002206349] Chr2:211665493..211665494 [GRCh38]
Chr2:212530218..212530219 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.1972A>T (p.Ile658Phe) single nucleotide variant not provided [RCV002209640] Chr2:211630569 [GRCh38]
Chr2:212495294 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.1947-18T>C single nucleotide variant not provided [RCV002210079] Chr2:211630612 [GRCh38]
Chr2:212495337 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.83-13_83-11del microsatellite not provided [RCV002209756] Chr2:212124914..212124916 [GRCh38]
Chr2:212989639..212989641 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.2778G>A (p.Thr926=) single nucleotide variant not provided [RCV002166391] Chr2:211424243 [GRCh38]
Chr2:212288968 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.2720-23_2720-20del microsatellite not provided [RCV002153485] Chr2:211424321..211424324 [GRCh38]
Chr2:212289046..212289049 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.2856C>T (p.Val952=) single nucleotide variant not provided [RCV002112942] Chr2:211424165 [GRCh38]
Chr2:212288890 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.2145A>G (p.Glu715=) single nucleotide variant not provided [RCV002151422] Chr2:211623979 [GRCh38]
Chr2:212488704 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.1289+17A>G single nucleotide variant not provided [RCV002174405] Chr2:211704087 [GRCh38]
Chr2:212568812 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.644A>C (p.Glu215Ala) single nucleotide variant not provided [RCV002175026] Chr2:211725173 [GRCh38]
Chr2:212589898 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.622+10082C>T single nucleotide variant not provided [RCV002132251] Chr2:211740557 [GRCh38]
Chr2:212605282 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.1950T>A (p.Thr650=) single nucleotide variant not provided [RCV002132330] Chr2:211630591 [GRCh38]
Chr2:212495316 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.2463T>A (p.Leu821=) single nucleotide variant not provided [RCV002133691] Chr2:211561927 [GRCh38]
Chr2:212426652 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.2158A>C (p.Arg720=) single nucleotide variant not provided [RCV002088975] Chr2:211623966 [GRCh38]
Chr2:212488691 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.2157G>A (p.Lys719=) single nucleotide variant not provided [RCV002213019] Chr2:211623967 [GRCh38]
Chr2:212488692 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.50C>T (p.Ala17Val) single nucleotide variant not provided [RCV002088147] Chr2:212538481 [GRCh38]
Chr2:213403205 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.1623-6T>C single nucleotide variant not provided [RCV002151778] Chr2:211673263 [GRCh38]
Chr2:212537988 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.150C>G (p.Arg50=) single nucleotide variant not provided [RCV002132621] Chr2:212124836 [GRCh38]
Chr2:212989561 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.422-13T>A single nucleotide variant not provided [RCV002080218] Chr2:211788172 [GRCh38]
Chr2:212652897 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.3135+20A>C single nucleotide variant not provided [RCV002213447] Chr2:211420421 [GRCh38]
Chr2:212285146 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.2571G>A (p.Val857=) single nucleotide variant not provided [RCV002194872] Chr2:211431017 [GRCh38]
Chr2:212295742 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.82+10148C>T single nucleotide variant not provided [RCV002132252] Chr2:212528301 [GRCh38]
Chr2:213393025 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.774T>C (p.Cys258=) single nucleotide variant not provided [RCV002093742] Chr2:211722502 [GRCh38]
Chr2:212587227 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.3819G>A (p.Arg1273=) single nucleotide variant not provided [RCV002171531] Chr2:211383723 [GRCh38]
Chr2:212248448 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.2886C>T (p.Asp962=) single nucleotide variant not provided [RCV002201390] Chr2:211422085 [GRCh38]
Chr2:212286810 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.1026G>A (p.Leu342=) single nucleotide variant not provided [RCV002100777] Chr2:211712148 [GRCh38]
Chr2:212576873 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.3909C>T (p.His1303=) single nucleotide variant not provided [RCV002180456] Chr2:211383633 [GRCh38]
Chr2:212248358 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.1717-15G>A single nucleotide variant not provided [RCV002117777] Chr2:211665492 [GRCh38]
Chr2:212530217 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.648A>G (p.Gln216=) single nucleotide variant not provided [RCV002143553] Chr2:211725169 [GRCh38]
Chr2:212589894 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.1947-17del deletion not provided [RCV002164171] Chr2:211630611 [GRCh38]
Chr2:212495336 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.82+106310A>G single nucleotide variant not provided [RCV002122719] Chr2:212432139 [GRCh38]
Chr2:213296863 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.2719+14C>T single nucleotide variant not provided [RCV002164590] Chr2:211428394 [GRCh38]
Chr2:212293119 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.557-12C>T single nucleotide variant not provided [RCV002140468] Chr2:211750716 [GRCh38]
Chr2:212615441 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.2867-11T>C single nucleotide variant not provided [RCV002180417] Chr2:211422115 [GRCh38]
Chr2:212286840 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.675C>T (p.Tyr225=) single nucleotide variant not provided [RCV002182426] Chr2:211725142 [GRCh38]
Chr2:212589867 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.82+12C>T single nucleotide variant not provided [RCV002163166] Chr2:212538437 [GRCh38]
Chr2:213403161 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.837C>T (p.Phe279=) single nucleotide variant not provided [RCV002177785] Chr2:211722439 [GRCh38]
Chr2:212587164 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.2379G>A (p.Gln793=) single nucleotide variant not provided [RCV002203787] Chr2:211562011 [GRCh38]
Chr2:212426736 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.3135+9_3135+10dup duplication not provided [RCV002183264] Chr2:211420430..211420431 [GRCh38]
Chr2:212285155..212285156 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.2488-10T>C single nucleotide variant not provided [RCV002136457] Chr2:211431110 [GRCh38]
Chr2:212295835 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.3774C>T (p.Tyr1258=) single nucleotide variant not provided [RCV002156984] Chr2:211383768 [GRCh38]
Chr2:212248493 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.90A>G (p.Ala30=) single nucleotide variant not provided [RCV002155272] Chr2:212124896 [GRCh38]
Chr2:212989621 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.2719+18G>A single nucleotide variant not provided [RCV002137200] Chr2:211428390 [GRCh38]
Chr2:212293115 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.2719+14_2719+16del microsatellite not provided [RCV002180915] Chr2:211428392..211428394 [GRCh38]
Chr2:212293117..212293119 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.2202+16C>T single nucleotide variant not provided [RCV002104193] Chr2:211623906 [GRCh38]
Chr2:212488631 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.153G>A (p.Lys51=) single nucleotide variant not provided [RCV002219074] Chr2:212124833 [GRCh38]
Chr2:212989558 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.1623-12A>T single nucleotide variant not provided [RCV002102413] Chr2:211673269 [GRCh38]
Chr2:212537994 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.1311C>G (p.Leu437=) single nucleotide variant not provided [RCV002122024] Chr2:211702145 [GRCh38]
Chr2:212566870 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.1717-16C>T single nucleotide variant not provided [RCV002176088] Chr2:211665493 [GRCh38]
Chr2:212530218 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.422-15T>C single nucleotide variant not provided [RCV002138094] Chr2:211788174 [GRCh38]
Chr2:212652899 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.1490-6T>C single nucleotide variant not provided [RCV002157101] Chr2:211679190 [GRCh38]
Chr2:212543915 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.1290-14T>C single nucleotide variant not provided [RCV002144070] Chr2:211702180 [GRCh38]
Chr2:212566905 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.473C>A (p.Ala158Glu) single nucleotide variant not provided [RCV002157564] Chr2:211788108 [GRCh38]
Chr2:212652833 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.2210G>C (p.Trp737Ser) single nucleotide variant not provided [RCV003115920] Chr2:211619268 [GRCh38]
Chr2:212483993 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.3400G>T (p.Val1134Leu) single nucleotide variant not provided [RCV003115516] Chr2:211386934 [GRCh38]
Chr2:212251659 [GRCh37]
Chr2:2q34
uncertain significance
NC_000002.11:g.(?_210636797)_(213403254_?)del deletion not provided [RCV003122874] Chr2:210636797..213403254 [GRCh37]
Chr2:2q34
pathogenic
NM_005235.3(ERBB4):c.12G>A (p.Ala4=) single nucleotide variant not provided [RCV003121148] Chr2:212538519 [GRCh38]
Chr2:213403243 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.1554C>G (p.Asp518Glu) single nucleotide variant ERBB4-associated epilepsy syndrome [RCV002276486] Chr2:211679120 [GRCh38]
Chr2:212543845 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.421+36999_421+40917del deletion Schizophrenia [RCV002463530] Chr2:211906513..211910431 [GRCh38]
Chr2:212771238..212775156 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.3494C>G (p.Pro1165Arg) single nucleotide variant Amyotrophic lateral sclerosis type 10 [RCV002463846] Chr2:211384048 [GRCh38]
Chr2:212248773 [GRCh37]
Chr2:2q34
uncertain significance
GRCh37/hg19 2q34(chr2:213290522-214539066)x3 copy number gain not provided [RCV002473469] Chr2:213290522..214539066 [GRCh37]
Chr2:2q34
uncertain significance
GRCh37/hg19 2q34(chr2:212597211-213804569)x3 copy number gain not provided [RCV002472407] Chr2:212597211..213804569 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.421G>C (p.Glu141Gln) single nucleotide variant not specified [RCV002302522] Chr2:211947430 [GRCh38]
Chr2:212812155 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.2813G>A (p.Arg938His) single nucleotide variant Inborn genetic diseases [RCV002777100] Chr2:211424208 [GRCh38]
Chr2:212288933 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.553G>A (p.Gly185Arg) single nucleotide variant not provided [RCV003095611] Chr2:211788028 [GRCh38]
Chr2:212652753 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.758A>G (p.Asn253Ser) single nucleotide variant Inborn genetic diseases [RCV002683327] Chr2:211722518 [GRCh38]
Chr2:212587243 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.1018G>A (p.Gly340Arg) single nucleotide variant not provided [RCV003012073] Chr2:211712156 [GRCh38]
Chr2:212576881 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.1137T>C (p.Asn379=) single nucleotide variant not provided [RCV002616225] Chr2:211705379 [GRCh38]
Chr2:212570104 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.1069A>G (p.Ile357Val) single nucleotide variant not provided [RCV002613421] Chr2:211712105 [GRCh38]
Chr2:212576830 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.1124+10A>C single nucleotide variant not provided [RCV002775274] Chr2:211712040 [GRCh38]
Chr2:212576765 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.268G>T (p.Ala90Ser) single nucleotide variant not provided [RCV003095533] Chr2:211947583 [GRCh38]
Chr2:212812308 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.842C>G (p.Ala281Gly) single nucleotide variant not provided [RCV002881804] Chr2:211722434 [GRCh38]
Chr2:212587159 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.3861G>T (p.Glu1287Asp) single nucleotide variant not provided [RCV002756443] Chr2:211383681 [GRCh38]
Chr2:212248406 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.3129G>A (p.Ser1043=) single nucleotide variant not provided [RCV002617640] Chr2:211420447 [GRCh38]
Chr2:212285172 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.235-16_235-15del deletion not provided [RCV002774814] Chr2:211947631..211947632 [GRCh38]
Chr2:212812356..212812357 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.36C>A (p.Ser12Arg) single nucleotide variant not provided [RCV002993779] Chr2:212538495 [GRCh38]
Chr2:213403219 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.1742C>G (p.Ser581Cys) single nucleotide variant Inborn genetic diseases [RCV002879711] Chr2:211665452 [GRCh38]
Chr2:212530177 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.1709A>G (p.His570Arg) single nucleotide variant not provided [RCV002615700] Chr2:211673171 [GRCh38]
Chr2:212537896 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.2601C>T (p.Leu867=) single nucleotide variant not provided [RCV002881077] Chr2:211430987 [GRCh38]
Chr2:212295712 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.2867-5T>A single nucleotide variant not provided [RCV002843499] Chr2:211422109 [GRCh38]
Chr2:212286834 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.1895A>T (p.Asp632Val) single nucleotide variant Inborn genetic diseases [RCV002732893] Chr2:211657805 [GRCh38]
Chr2:212522530 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.917G>A (p.Arg306His) single nucleotide variant not provided [RCV002904908] Chr2:211713615 [GRCh38]
Chr2:212578340 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.1701C>T (p.Leu567=) single nucleotide variant not provided [RCV002735916] Chr2:211673179 [GRCh38]
Chr2:212537904 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.1428A>C (p.Thr476=) single nucleotide variant not provided [RCV002593054] Chr2:211702028 [GRCh38]
Chr2:212566753 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.829C>T (p.His277Tyr) single nucleotide variant not provided [RCV003054514] Chr2:211722447 [GRCh38]
Chr2:212587172 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.1290-8C>T single nucleotide variant not provided [RCV002572170] Chr2:211702174 [GRCh38]
Chr2:212566899 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.1289+12T>A single nucleotide variant not provided [RCV003021640] Chr2:211704092 [GRCh38]
Chr2:212568817 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.421+8A>G single nucleotide variant not provided [RCV003077995] Chr2:211947422 [GRCh38]
Chr2:212812147 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.1514A>T (p.His505Leu) single nucleotide variant not provided [RCV002658972] Chr2:211679160 [GRCh38]
Chr2:212543885 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.215G>C (p.Arg72Pro) single nucleotide variant Inborn genetic diseases [RCV002638531]|not provided [RCV002644294] Chr2:212124771 [GRCh38]
Chr2:212989496 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.2379G>T (p.Gln793His) single nucleotide variant not provided [RCV002706082] Chr2:211562011 [GRCh38]
Chr2:212426736 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.1501A>G (p.Met501Val) single nucleotide variant Inborn genetic diseases [RCV003001556] Chr2:211679173 [GRCh38]
Chr2:212543898 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.502C>T (p.Arg168Trp) single nucleotide variant not provided [RCV002620404] Chr2:211788079 [GRCh38]
Chr2:212652804 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.83-24_83-17del deletion not provided [RCV002622375] Chr2:212124920..212124927 [GRCh38]
Chr2:212989645..212989652 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.3143T>C (p.Ile1048Thr) single nucleotide variant not provided [RCV002695144] Chr2:211387985 [GRCh38]
Chr2:212252710 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.1526G>A (p.Ser509Asn) single nucleotide variant not provided [RCV002569830] Chr2:211679148 [GRCh38]
Chr2:212543873 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.3732C>T (p.Asn1244=) single nucleotide variant not provided [RCV002736000] Chr2:211383810 [GRCh38]
Chr2:212248535 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.3083T>C (p.Phe1028Ser) single nucleotide variant Inborn genetic diseases [RCV002869979] Chr2:211420493 [GRCh38]
Chr2:212285218 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.3565C>T (p.His1189Tyr) single nucleotide variant not provided [RCV002622484] Chr2:211383977 [GRCh38]
Chr2:212248702 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.2533G>A (p.Ala845Thr) single nucleotide variant not provided [RCV002658629] Chr2:211431055 [GRCh38]
Chr2:212295780 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.2193G>A (p.Thr731=) single nucleotide variant not provided [RCV002638268] Chr2:211623931 [GRCh38]
Chr2:212488656 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.975T>G (p.Pro325=) single nucleotide variant not provided [RCV002979817] Chr2:211713557 [GRCh38]
Chr2:212578282 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.563G>A (p.Arg188His) single nucleotide variant not provided [RCV002694999] Chr2:211750698 [GRCh38]
Chr2:212615423 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.2720-18A>T single nucleotide variant not provided [RCV002636315] Chr2:211424319 [GRCh38]
Chr2:212289044 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.2719+12T>A single nucleotide variant not provided [RCV002575732] Chr2:211428396 [GRCh38]
Chr2:212293121 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.1669C>T (p.Pro557Ser) single nucleotide variant ERBB4-related condition [RCV003395612]|Inborn genetic diseases [RCV002623538]|not provided [RCV002611637] Chr2:211673211 [GRCh38]
Chr2:212537936 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.3136-3T>G single nucleotide variant not provided [RCV002711032] Chr2:211387995 [GRCh38]
Chr2:212252720 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.2545G>A (p.Val849Ile) single nucleotide variant not provided [RCV003026075] Chr2:211431043 [GRCh38]
Chr2:212295768 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.2400C>T (p.Pro800=) single nucleotide variant not provided [RCV002594796] Chr2:211561990 [GRCh38]
Chr2:212426715 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.1602G>A (p.Glu534=) single nucleotide variant not provided [RCV003057538] Chr2:211679072 [GRCh38]
Chr2:212543797 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.2302-8dup duplication not provided [RCV002786498] Chr2:211562095..211562096 [GRCh38]
Chr2:212426820..212426821 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.1489+14T>A single nucleotide variant not provided [RCV002625577] Chr2:211701953 [GRCh38]
Chr2:212566678 [GRCh37]
Chr2:2q34
benign
NM_005235.3(ERBB4):c.622+19G>C single nucleotide variant not provided [RCV002643113] Chr2:211750620 [GRCh38]
Chr2:212615345 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.3558C>T (p.Pro1186=) single nucleotide variant not provided [RCV002623824] Chr2:211383984 [GRCh38]
Chr2:212248709 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.847T>C (p.Tyr283His) single nucleotide variant not provided [RCV003041615] Chr2:211722429 [GRCh38]
Chr2:212587154 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.622+11A>G single nucleotide variant not provided [RCV003024111] Chr2:211750628 [GRCh38]
Chr2:212615353 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.561A>G (p.Gly187=) single nucleotide variant not provided [RCV003082704] Chr2:211750700 [GRCh38]
Chr2:212615425 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.666C>T (p.Tyr222=) single nucleotide variant not provided [RCV002766540] Chr2:211725151 [GRCh38]
Chr2:212589876 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.3578A>G (p.Asn1193Ser) single nucleotide variant Inborn genetic diseases [RCV002665675] Chr2:211383964 [GRCh38]
Chr2:212248689 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.1776dup (p.Cys593fs) duplication Inborn genetic diseases [RCV002697668] Chr2:211665417..211665418 [GRCh38]
Chr2:212530142..212530143 [GRCh37]
Chr2:2q34
pathogenic
NM_005235.3(ERBB4):c.2454A>G (p.Gln818=) single nucleotide variant not provided [RCV003083096] Chr2:211561936 [GRCh38]
Chr2:212426661 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.1364C>G (p.Ala455Gly) single nucleotide variant Inborn genetic diseases [RCV002827731] Chr2:211702092 [GRCh38]
Chr2:212566817 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.1835G>A (p.Arg612Gln) single nucleotide variant not provided [RCV002790854] Chr2:211665359 [GRCh38]
Chr2:212530084 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.2932G>C (p.Ala978Pro) single nucleotide variant Inborn genetic diseases [RCV002917013] Chr2:211422039 [GRCh38]
Chr2:212286764 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.2080-3C>T single nucleotide variant not provided [RCV002593625] Chr2:211624047 [GRCh38]
Chr2:212488772 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.3878G>A (p.Gly1293Asp) single nucleotide variant Amyotrophic lateral sclerosis type 19 [RCV003225777]|not provided [RCV002595135] Chr2:211383664 [GRCh38]
Chr2:212248389 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.2644-5T>C single nucleotide variant not provided [RCV002828949] Chr2:211428488 [GRCh38]
Chr2:212293213 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.62A>G (p.Gln21Arg) single nucleotide variant not provided [RCV003063746] Chr2:212538469 [GRCh38]
Chr2:213403193 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.3527A>T (p.Lys1176Ile) single nucleotide variant not provided [RCV003029723] Chr2:211384015 [GRCh38]
Chr2:212248740 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.1598T>C (p.Ile533Thr) single nucleotide variant not provided [RCV002720037] Chr2:211679076 [GRCh38]
Chr2:212543801 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.234+19_234+22del microsatellite not provided [RCV002580213] Chr2:212124730..212124733 [GRCh38]
Chr2:212989455..212989458 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.1295T>G (p.Leu432Arg) single nucleotide variant not provided [RCV003049380] Chr2:211702161 [GRCh38]
Chr2:212566886 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.2517C>T (p.Leu839=) single nucleotide variant not provided [RCV002602922] Chr2:211431071 [GRCh38]
Chr2:212295796 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.1597A>G (p.Ile533Val) single nucleotide variant not provided [RCV002900356] Chr2:211679077 [GRCh38]
Chr2:212543802 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.580A>G (p.Thr194Ala) single nucleotide variant not provided [RCV002675607] Chr2:211750681 [GRCh38]
Chr2:212615406 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.710G>A (p.Gly237Asp) single nucleotide variant not provided [RCV003066067] Chr2:211725107 [GRCh38]
Chr2:212589832 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.741+16CT[2] microsatellite not provided [RCV002580564] Chr2:211725055..211725056 [GRCh38]
Chr2:212589780..212589781 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.3746C>T (p.Pro1249Leu) single nucleotide variant not provided [RCV003089505] Chr2:211383796 [GRCh38]
Chr2:212248521 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.422-22_422-19del deletion not provided [RCV002646442] Chr2:211788178..211788181 [GRCh38]
Chr2:212652903..212652906 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.3186C>A (p.Asn1062Lys) single nucleotide variant not provided [RCV003087432] Chr2:211387148 [GRCh38]
Chr2:212251873 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.3050T>C (p.Met1017Thr) single nucleotide variant not provided [RCV002577348] Chr2:211420526 [GRCh38]
Chr2:212285251 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.3413A>G (p.Glu1138Gly) single nucleotide variant not provided [RCV002649403] Chr2:211386921 [GRCh38]
Chr2:212251646 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.1027A>T (p.Met343Leu) single nucleotide variant Amyotrophic lateral sclerosis type 19 [RCV003143520]|not provided [RCV002628849] Chr2:211712147 [GRCh38]
Chr2:212576872 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.82+10T>C single nucleotide variant not provided [RCV002627471] Chr2:212538439 [GRCh38]
Chr2:213403163 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.1668C>A (p.Asp556Glu) single nucleotide variant not provided [RCV002599904] Chr2:211673212 [GRCh38]
Chr2:212537937 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.1141A>G (p.Ile381Val) single nucleotide variant not provided [RCV002600783] Chr2:211705375 [GRCh38]
Chr2:212570100 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.506A>G (p.Asn169Ser) single nucleotide variant not provided [RCV002715503] Chr2:211788075 [GRCh38]
Chr2:212652800 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.1755T>C (p.Asp585=) single nucleotide variant not provided [RCV002580468] Chr2:211665439 [GRCh38]
Chr2:212530164 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.3374C>T (p.Thr1125Ile) single nucleotide variant Inborn genetic diseases [RCV002920324] Chr2:211386960 [GRCh38]
Chr2:212251685 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.3891G>A (p.Pro1297=) single nucleotide variant not provided [RCV003089909] Chr2:211383651 [GRCh38]
Chr2:212248376 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.1891C>T (p.His631Tyr) single nucleotide variant not provided [RCV002651597] Chr2:211657809 [GRCh38]
Chr2:212522534 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.2604G>A (p.Leu868=) single nucleotide variant not provided [RCV002716573] Chr2:211430984 [GRCh38]
Chr2:212295709 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.3009C>T (p.Phe1003=) single nucleotide variant not provided [RCV002650791] Chr2:211420567 [GRCh38]
Chr2:212285292 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.3136-5A>G single nucleotide variant not provided [RCV003086418] Chr2:211387997 [GRCh38]
Chr2:212252722 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.472G>A (p.Ala158Thr) single nucleotide variant Amyotrophic lateral sclerosis type 19 [RCV003146625]|not provided [RCV002770249] Chr2:211788109 [GRCh38]
Chr2:212652834 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.2079+6G>A single nucleotide variant not provided [RCV002576508] Chr2:211630456 [GRCh38]
Chr2:212495181 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.3707C>T (p.Ala1236Val) single nucleotide variant not provided [RCV003063280] Chr2:211383835 [GRCh38]
Chr2:212248560 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.1826A>G (p.Asp609Gly) single nucleotide variant not provided [RCV002922960] Chr2:211665368 [GRCh38]
Chr2:212530093 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.883C>T (p.His295Tyr) single nucleotide variant not provided [RCV002583723] Chr2:211722393 [GRCh38]
Chr2:212587118 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.1289+8G>T single nucleotide variant not provided [RCV002653351] Chr2:211704096 [GRCh38]
Chr2:212568821 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.1851C>T (p.Cys617=) single nucleotide variant not provided [RCV002676897] Chr2:211665343 [GRCh38]
Chr2:212530068 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.1392C>G (p.Ser464Arg) single nucleotide variant ERBB4-related condition [RCV003403900]|not provided [RCV002721622] Chr2:211702064 [GRCh38]
Chr2:212566789 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.891T>G (p.Phe297Leu) single nucleotide variant not provided [RCV002635921] Chr2:211713641 [GRCh38]
Chr2:212578366 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.431A>G (p.Asn144Ser) single nucleotide variant not provided [RCV002726155] Chr2:211788150 [GRCh38]
Chr2:212652875 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.1015_1034del (p.Thr339fs) deletion Inborn genetic diseases [RCV002655253] Chr2:211712140..211712159 [GRCh38]
Chr2:212576865..212576884 [GRCh37]
Chr2:2q34
pathogenic
NM_005235.3(ERBB4):c.503G>A (p.Arg168Gln) single nucleotide variant not provided [RCV003069042] Chr2:211788078 [GRCh38]
Chr2:212652803 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.1622+8T>C single nucleotide variant not provided [RCV002586638] Chr2:211679044 [GRCh38]
Chr2:212543769 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.3400G>A (p.Val1134Met) single nucleotide variant not provided [RCV003070361] Chr2:211386934 [GRCh38]
Chr2:212251659 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.1059T>C (p.Ile353=) single nucleotide variant not provided [RCV002589230] Chr2:211712115 [GRCh38]
Chr2:212576840 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.2301T>C (p.Asp767=) single nucleotide variant not provided [RCV002654483] Chr2:211619177 [GRCh38]
Chr2:212483902 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.2661G>A (p.Met887Ile) single nucleotide variant not provided [RCV002680911] Chr2:211428466 [GRCh38]
Chr2:212293191 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.1720C>A (p.Pro574Thr) single nucleotide variant not provided [RCV002633407] Chr2:211665474 [GRCh38]
Chr2:212530199 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.3547T>C (p.Leu1183=) single nucleotide variant not provided [RCV002582520] Chr2:211383995 [GRCh38]
Chr2:212248720 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.3595G>A (p.Glu1199Lys) single nucleotide variant not provided [RCV002942401] Chr2:211383947 [GRCh38]
Chr2:212248672 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.2087A>C (p.Glu696Ala) single nucleotide variant Inborn genetic diseases [RCV002607841]|not provided [RCV002607840] Chr2:211624037 [GRCh38]
Chr2:212488762 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.197C>T (p.Thr66Ile) single nucleotide variant not specified [RCV003155663] Chr2:212124789 [GRCh38]
Chr2:212989514 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.3779A>G (p.Gln1260Arg) single nucleotide variant Inborn genetic diseases [RCV003211905] Chr2:211383763 [GRCh38]
Chr2:212248488 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.1885A>G (p.Thr629Ala) single nucleotide variant Amyotrophic lateral sclerosis type 19 [RCV003147109] Chr2:211657815 [GRCh38]
Chr2:212522540 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.2525G>A (p.Arg842Gln) single nucleotide variant Amyotrophic lateral sclerosis type 19 [RCV003140608] Chr2:211431063 [GRCh38]
Chr2:212295788 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.1289+1G>C single nucleotide variant Amyotrophic lateral sclerosis type 19 [RCV003147110] Chr2:211704103 [GRCh38]
Chr2:212568828 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.2915C>T (p.Ala972Val) single nucleotide variant Teratoma [RCV003221386] Chr2:211422056 [GRCh38]
Chr2:212286781 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.1452A>G (p.Arg484=) single nucleotide variant not specified [RCV003324128] Chr2:211702004 [GRCh38]
Chr2:212566729 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.872A>G (p.Lys291Arg) single nucleotide variant Inborn genetic diseases [RCV003308774] Chr2:211722404 [GRCh38]
Chr2:212587129 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.2117A>G (p.Asn706Ser) single nucleotide variant Inborn genetic diseases [RCV003308853] Chr2:211624007 [GRCh38]
Chr2:212488732 [GRCh37]
Chr2:2q34
uncertain significance
GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3 copy number gain See cases [RCV003329558] Chr2:186698504..223918111 [GRCh37]
Chr2:2q32.1-36.1
pathogenic
NM_005235.3(ERBB4):c.2353G>C (p.Gly785Arg) single nucleotide variant Inborn genetic diseases [RCV003366912] Chr2:211562037 [GRCh38]
Chr2:212426762 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.1009A>G (p.Ile337Val) single nucleotide variant Inborn genetic diseases [RCV003364580] Chr2:211712165 [GRCh38]
Chr2:212576890 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.216G>C (p.Arg72=) single nucleotide variant not provided [RCV003543669] Chr2:212124770 [GRCh38]
Chr2:212989495 [GRCh37]
Chr2:2q34
likely benign
GRCh37/hg19 2q34(chr2:212633377-213434225)x1 copy number loss not provided [RCV003485261] Chr2:212633377..213434225 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.3525A>C (p.Arg1175Ser) single nucleotide variant ERBB4-related condition [RCV003406034] Chr2:211384017 [GRCh38]
Chr2:212248742 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.1482A>G (p.Glu494=) single nucleotide variant not provided [RCV003429525] Chr2:211701974 [GRCh38]
Chr2:212566699 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.938T>C (p.Met313Thr) single nucleotide variant ERBB4-related condition [RCV003427775] Chr2:211713594 [GRCh38]
Chr2:212578319 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.884-9_884-7del deletion not provided [RCV003429526] Chr2:211713655..211713657 [GRCh38]
Chr2:212578380..212578382 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.202A>C (p.Ile68Leu) single nucleotide variant ERBB4-related condition [RCV003391603] Chr2:212124784 [GRCh38]
Chr2:212989509 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.2487+8_2487+11del deletion Amyotrophic lateral sclerosis type 19 [RCV003388182] Chr2:211561892..211561895 [GRCh38]
Chr2:212426617..212426620 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.3170C>T (p.Thr1057Ile) single nucleotide variant ERBB4-related condition [RCV003410809] Chr2:211387958 [GRCh38]
Chr2:212252683 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.213C>G (p.Asn71Lys) single nucleotide variant ERBB4-related condition [RCV003402663] Chr2:212124773 [GRCh38]
Chr2:212989498 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.1997T>C (p.Ile666Thr) single nucleotide variant ERBB4-related condition [RCV003402645] Chr2:211630544 [GRCh38]
Chr2:212495269 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.140G>A (p.Arg47Gln) single nucleotide variant ERBB4-related condition [RCV003414155] Chr2:212124846 [GRCh38]
Chr2:212989571 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.3488T>C (p.Leu1163Pro) single nucleotide variant not provided [RCV003715209] Chr2:211384054 [GRCh38]
Chr2:212248779 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.2385T>G (p.Val795=) single nucleotide variant not provided [RCV003661598] Chr2:211562005 [GRCh38]
Chr2:212426730 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.3656C>G (p.Ala1219Gly) single nucleotide variant not provided [RCV003545994] Chr2:211383886 [GRCh38]
Chr2:212248611 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.2244G>A (p.Val748=) single nucleotide variant not provided [RCV003713463] Chr2:211619234 [GRCh38]
Chr2:212483959 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.3240C>T (p.Pro1080=) single nucleotide variant not provided [RCV003878136] Chr2:211387094 [GRCh38]
Chr2:212251819 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.392T>C (p.Leu131Pro) single nucleotide variant not provided [RCV003545845] Chr2:211947459 [GRCh38]
Chr2:212812184 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.1431_1432del (p.Phe478fs) microsatellite not provided [RCV003877768] Chr2:211702024..211702025 [GRCh38]
Chr2:212566749..212566750 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.3642C>A (p.Asn1214Lys) single nucleotide variant not provided [RCV003712917] Chr2:211383900 [GRCh38]
Chr2:212248625 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.1728C>G (p.Asn576Lys) single nucleotide variant not provided [RCV003661566] Chr2:211665466 [GRCh38]
Chr2:212530191 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.328C>G (p.Leu110Val) single nucleotide variant not provided [RCV003688340] Chr2:211947523 [GRCh38]
Chr2:212812248 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.3726C>T (p.Tyr1242=) single nucleotide variant not provided [RCV003877903] Chr2:211383816 [GRCh38]
Chr2:212248541 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.149G>A (p.Arg50His) single nucleotide variant not provided [RCV003546245] Chr2:212124837 [GRCh38]
Chr2:212989562 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.1617T>C (p.Tyr539=) single nucleotide variant not provided [RCV003877094] Chr2:211679057 [GRCh38]
Chr2:212543782 [GRCh37]
Chr2:2q34
likely benign
NM_005235.3(ERBB4):c.3238C>A (p.Pro1080Thr) single nucleotide variant not provided [RCV003661867] Chr2:211387096 [GRCh38]
Chr2:212251821 [GRCh37]
Chr2:2q34
uncertain significance
NM_005235.3(ERBB4):c.3570T>C (p.Asn1190=) single nucleotide variant not provided [RCV003715010] Chr2:211383972 [GRCh38]
Chr2:212248697 [GRCh37]
Chr2:2q34
likely benign
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR19Ahsa-miR-19a-3pMirtarbaseexternal_infoLuciferase reporter assay//MicroarrayFunctional MTI19885849
MIR372hsa-miR-372-3pMirtarbaseexternal_infoLuciferase reporter assay//MicroarrayFunctional MTI19885849
MIR146Ahsa-miR-146a-5pMirtarbaseexternal_infoLuciferase reporter assay//Microarray//Western bloFunctional MTI20864407
MIR302Dhsa-miR-302d-3pMirtarbaseexternal_infoLuciferase reporter assay//MicroarrayFunctional MTI19885849

Predicted Target Of
Summary Value
Count of predictions:7402
Count of miRNA genes:1352
Interacting mature miRNAs:1773
Transcripts:ENST00000260943, ENST00000342788, ENST00000402597, ENST00000435846, ENST00000436443, ENST00000459774, ENST00000463121, ENST00000484474, ENST00000484594
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D2S371  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372212,313,096 - 212,313,245UniSTSGRCh37
GRCh372212,313,106 - 212,313,275UniSTSGRCh37
Build 362212,021,341 - 212,021,490RGDNCBI36
Celera2206,081,090 - 206,081,243RGD
Celera2206,081,100 - 206,081,273UniSTS
Cytogenetic Map2q33.3-q34UniSTS
HuRef2204,160,484 - 204,160,659UniSTS
HuRef2204,160,474 - 204,160,629UniSTS
Marshfield Genetic Map2206.74RGD
Genethon Genetic Map2213.5UniSTS
TNG Radiation Hybrid Map2116516.0UniSTS
deCODE Assembly Map2207.58UniSTS
GeneMap99-GB4 RH Map2653.8UniSTS
G16508  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372212,324,787 - 212,324,961UniSTSGRCh37
Build 362212,033,032 - 212,033,206RGDNCBI36
Celera2206,092,785 - 206,092,959RGD
Cytogenetic Map2q33.3-q34UniSTS
HuRef2204,172,171 - 204,172,345UniSTS
SHGC-9274  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372212,659,424 - 212,659,550UniSTSGRCh37
Build 362212,367,669 - 212,367,795RGDNCBI36
Celera2206,424,754 - 206,424,880RGD
Cytogenetic Map2q33.3-q34UniSTS
HuRef2204,508,275 - 204,508,401UniSTS
TNG Radiation Hybrid Map2117616.0UniSTS
G43306  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372212,811,364 - 212,811,513UniSTSGRCh37
Build 362212,519,609 - 212,519,758RGDNCBI36
Celera2206,576,156 - 206,576,305RGD
Cytogenetic Map2q33.3-q34UniSTS
HuRef2204,660,367 - 204,660,516UniSTS
SHGC-83780  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372212,404,408 - 212,404,738UniSTSGRCh37
Build 362212,112,653 - 212,112,983RGDNCBI36
Celera2206,172,090 - 206,172,420RGD
Cytogenetic Map2q33.3-q34UniSTS
HuRef2204,251,751 - 204,252,081UniSTS
TNG Radiation Hybrid Map218952.0UniSTS
SHGC-79806  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372213,018,485 - 213,018,770UniSTSGRCh37
Build 362212,726,730 - 212,727,015RGDNCBI36
Celera2206,783,276 - 206,783,561RGD
Cytogenetic Map2q33.3-q34UniSTS
HuRef2204,867,718 - 204,868,003UniSTS
TNG Radiation Hybrid Map2117256.0UniSTS
SHGC-80076  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372213,021,828 - 213,021,962UniSTSGRCh37
Build 362212,730,073 - 212,730,207RGDNCBI36
Celera2206,786,619 - 206,786,753RGD
Cytogenetic Map2q33.3-q34UniSTS
HuRef2204,871,061 - 204,871,195UniSTS
TNG Radiation Hybrid Map2117232.0UniSTS
SHGC-80807  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372212,306,446 - 212,306,748UniSTSGRCh37
Build 362212,014,691 - 212,014,993RGDNCBI36
Celera2206,074,440 - 206,074,742RGD
Cytogenetic Map2q33.3-q34UniSTS
HuRef2204,153,823 - 204,154,125UniSTS
TNG Radiation Hybrid Map2116467.0UniSTS
SHGC-85721  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372212,306,496 - 212,306,775UniSTSGRCh37
Build 362212,014,741 - 212,015,020RGDNCBI36
Celera2206,074,490 - 206,074,769RGD
Cytogenetic Map2q33.3-q34UniSTS
HuRef2204,153,873 - 204,154,152UniSTS
TNG Radiation Hybrid Map2116467.0UniSTS
SHGC-82395  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372213,122,398 - 213,122,678UniSTSGRCh37
Build 362212,830,643 - 212,830,923RGDNCBI36
Celera2206,887,167 - 206,887,447RGD
Cytogenetic Map2q33.3-q34UniSTS
HuRef2204,971,507 - 204,971,787UniSTS
TNG Radiation Hybrid Map2116854.0UniSTS
RH120271  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372212,744,094 - 212,744,373UniSTSGRCh37
Build 362212,452,339 - 212,452,618RGDNCBI36
Celera2206,508,880 - 206,509,159RGD
Cytogenetic Map2q33.3-q34UniSTS
HuRef2204,592,786 - 204,593,065UniSTS
TNG Radiation Hybrid Map2117588.0UniSTS
RH120744  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372212,668,333 - 212,668,614UniSTSGRCh37
Build 362212,376,578 - 212,376,859RGDNCBI36
Cytogenetic Map2q33.3-q34UniSTS
HuRef2204,517,180 - 204,517,461UniSTS
TNG Radiation Hybrid Map2117652.0UniSTS
RH119484  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372212,346,221 - 212,346,491UniSTSGRCh37
Build 362212,054,466 - 212,054,736RGDNCBI36
Celera2206,114,216 - 206,114,486RGD
Cytogenetic Map2q33.3-q34UniSTS
HuRef2204,193,559 - 204,193,829UniSTS
TNG Radiation Hybrid Map2116488.0UniSTS
G59782  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372212,811,369 - 212,811,472UniSTSGRCh37
Build 362212,519,614 - 212,519,717RGDNCBI36
Celera2206,576,161 - 206,576,264RGD
Cytogenetic Map2q33.3-q34UniSTS
HuRef2204,660,372 - 204,660,475UniSTS
TNG Radiation Hybrid Map2117547.0UniSTS
G63819  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372213,207,985 - 213,208,275UniSTSGRCh37
Build 362212,916,230 - 212,916,520RGDNCBI36
Celera2206,972,803 - 206,973,093RGD
Cytogenetic Map2q33.3-q34UniSTS
HuRef2205,057,450 - 205,057,740UniSTS
TNG Radiation Hybrid Map2116906.0UniSTS
AU049543  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372213,401,166 - 213,401,305UniSTSGRCh37
Build 362213,109,411 - 213,109,550RGDNCBI36
Celera2207,165,944 - 207,166,083RGD
Cytogenetic Map2q33.3-q34UniSTS
HuRef2205,250,649 - 205,250,788UniSTS
D2S1702E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372212,241,504 - 212,241,696UniSTSGRCh37
Build 362211,949,749 - 211,949,941RGDNCBI36
Celera2206,009,481 - 206,009,673RGD
Cytogenetic Map2q33.3-q34UniSTS
HuRef2204,088,878 - 204,089,070UniSTS
G65476  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372213,154,385 - 213,154,658UniSTSGRCh37
Build 362212,862,630 - 212,862,903RGDNCBI36
Celera2206,919,180 - 206,919,453RGD
Cytogenetic Map2q33.3-q34UniSTS
HuRef2205,003,517 - 205,003,790UniSTS
TNG Radiation Hybrid Map2116867.0UniSTS
SHGC-144718  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372213,393,840 - 213,394,140UniSTSGRCh37
Build 362213,102,085 - 213,102,385RGDNCBI36
Celera2207,158,618 - 207,158,918RGD
Cytogenetic Map2q33.3-q34UniSTS
HuRef2205,243,323 - 205,243,623UniSTS
TNG Radiation Hybrid Map2116946.0UniSTS
RH68995  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372212,247,073 - 212,247,286UniSTSGRCh37
Build 362211,955,318 - 211,955,531RGDNCBI36
Celera2206,015,061 - 206,015,274RGD
Cytogenetic Map2q33.3-q34UniSTS
HuRef2204,094,458 - 204,094,671UniSTS
GeneMap99-GB4 RH Map2649.21UniSTS
SHGC-153780  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372212,565,773 - 212,566,050UniSTSGRCh37
Build 362212,274,018 - 212,274,295RGDNCBI36
Celera2206,333,247 - 206,333,524RGD
Cytogenetic Map2q33.3-q34UniSTS
HuRef2204,412,909 - 204,413,186UniSTS
TNG Radiation Hybrid Map2117632.0UniSTS
RH15943  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372212,344,729 - 212,344,894UniSTSGRCh37
Build 362212,052,974 - 212,053,139RGDNCBI36
Celera2206,112,724 - 206,112,889RGD
Cytogenetic Map2q33.3-q34UniSTS
HuRef2204,192,067 - 204,192,232UniSTS
GeneMap99-GB4 RH Map2653.8UniSTS
D2S2712  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372212,240,812 - 212,241,015UniSTSGRCh37
Build 362211,949,057 - 211,949,260RGDNCBI36
Celera2206,008,789 - 206,008,992RGD
Cytogenetic Map2q33.3-q34UniSTS
HuRef2204,088,186 - 204,088,389UniSTS
A005E44  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372212,344,721 - 212,344,834UniSTSGRCh37
Build 362212,052,966 - 212,053,079RGDNCBI36
Celera2206,112,716 - 206,112,829RGD
Cytogenetic Map2q33.3-q34UniSTS
HuRef2204,192,059 - 204,192,172UniSTS
GeneMap99-GB4 RH Map2651.77UniSTS
Whitehead-RH Map2983.9UniSTS
WI-21559  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372212,973,478 - 212,973,763UniSTSGRCh37
Build 362212,681,723 - 212,682,008RGDNCBI36
Celera2206,738,270 - 206,738,555RGD
Cytogenetic Map2q33.3-q34UniSTS
HuRef2204,822,716 - 204,823,001UniSTS
GeneMap99-GB4 RH Map2651.69UniSTS
Whitehead-RH Map2984.0UniSTS
AFMa052yb9  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372212,400,200 - 212,400,414UniSTSGRCh37
Build 362212,108,445 - 212,108,659RGDNCBI36
Celera2206,167,888 - 206,168,102RGD
Cytogenetic Map2q33.3-q34UniSTS
HuRef2204,247,549 - 204,247,763UniSTS
Whitehead-RH Map2983.8UniSTS
Whitehead-YAC Contig Map2 UniSTS
G19847  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372212,240,597 - 212,240,712UniSTSGRCh37
Build 362211,948,842 - 211,948,957RGDNCBI36
Celera2206,008,574 - 206,008,689RGD
Cytogenetic Map2q33.3-q34UniSTS
HuRef2204,087,971 - 204,088,086UniSTS
D2S1749  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372212,749,275 - 212,749,426UniSTSGRCh37
Build 362212,457,520 - 212,457,671RGDNCBI36
Celera2206,514,061 - 206,514,212RGD
Cytogenetic Map2q33.3-q34UniSTS
HuRef2204,597,968 - 204,598,119UniSTS
Whitehead-RH Map2984.2UniSTS
Whitehead-YAC Contig Map2 UniSTS
RH45906  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372213,151,651 - 213,151,813UniSTSGRCh37
Build 362212,859,896 - 212,860,058RGDNCBI36
Celera2188,972,052 - 188,972,215RGD
Celera2206,916,446 - 206,916,608UniSTS
Cytogenetic Map2q33.3-q34UniSTS
GeneMap99-GB4 RH Map2652.49UniSTS
RH47938  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372213,024,087 - 213,024,272UniSTSGRCh37
Build 362212,732,332 - 212,732,517RGDNCBI36
Celera2206,788,878 - 206,789,063RGD
Cytogenetic Map2q33.3-q34UniSTS
HuRef2204,873,320 - 204,873,505UniSTS
GeneMap99-GB4 RH Map2656.74UniSTS
G54596  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372213,189,270 - 213,189,447UniSTSGRCh37
Celera2206,954,057 - 206,954,234UniSTS
Cytogenetic Map2q33.3-q34UniSTS
HuRef2205,038,706 - 205,038,883UniSTS
D2S371  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q33.3-q34UniSTS
Marshfield Genetic Map2206.74UniSTS
Genethon Genetic Map2213.5UniSTS
deCODE Assembly Map2207.58UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2 134 40 3 3 3 2 7 349 43 107 14 1
Low 154 1899 957 164 35 13 2366 894 3274 193 575 1173 151 1 275 1972 1 2
Below cutoff 2098 620 509 252 963 241 1944 1268 78 108 733 326 19 928 814 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001042599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005246376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005246377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC012069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC068970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC079119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC096547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC096765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC105921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC108216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC108220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF007153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI793060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ015804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR627023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS238515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT281867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT310076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L07868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000260943   ⟹   ENSP00000260943
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2211,383,271 - 212,538,530 (-)Ensembl
RefSeq Acc Id: ENST00000342788   ⟹   ENSP00000342235
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2211,375,717 - 212,538,802 (-)Ensembl
RefSeq Acc Id: ENST00000402597   ⟹   ENSP00000385565
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2211,375,717 - 212,124,907 (-)Ensembl
RefSeq Acc Id: ENST00000435846   ⟹   ENSP00000405564
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2211,750,699 - 212,429,247 (-)Ensembl
RefSeq Acc Id: ENST00000436443   ⟹   ENSP00000403204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2211,375,721 - 212,538,841 (-)Ensembl
RefSeq Acc Id: ENST00000459774
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2212,124,584 - 212,125,181 (-)Ensembl
RefSeq Acc Id: ENST00000463121
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2211,657,597 - 211,665,354 (-)Ensembl
RefSeq Acc Id: ENST00000484474
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2211,725,152 - 211,960,762 (-)Ensembl
RefSeq Acc Id: ENST00000484594
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2211,561,762 - 212,538,582 (-)Ensembl
RefSeq Acc Id: NM_001042599   ⟹   NP_001036064
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382211,375,717 - 212,538,628 (-)NCBI
GRCh372212,240,442 - 213,403,879 (-)NCBI
Build 362211,948,687 - 213,111,597 (-)NCBI Archive
HuRef2204,087,816 - 205,252,852 (-)ENTREZGENE
CHM1_12212,246,189 - 213,409,602 (-)NCBI
T2T-CHM13v2.02211,856,201 - 213,019,271 (-)NCBI
Sequence:
RefSeq Acc Id: NM_005235   ⟹   NP_005226
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382211,375,717 - 212,538,802 (-)NCBI
GRCh372212,240,442 - 213,403,879 (-)NCBI
Build 362211,948,687 - 213,111,597 (-)NCBI Archive
HuRef2204,087,816 - 205,252,852 (-)ENTREZGENE
CHM1_12212,246,189 - 213,409,602 (-)NCBI
T2T-CHM13v2.02211,856,201 - 213,019,445 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005246376   ⟹   XP_005246433
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382211,375,717 - 212,538,802 (-)NCBI
GRCh372212,240,442 - 213,403,879 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005246377   ⟹   XP_005246434
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382211,375,717 - 212,538,802 (-)NCBI
GRCh372212,240,442 - 213,403,879 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006712364   ⟹   XP_006712427
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382211,375,717 - 212,538,802 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017003577   ⟹   XP_016859066
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382211,375,717 - 212,538,802 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017003578   ⟹   XP_016859067
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382211,375,717 - 212,538,802 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017003579   ⟹   XP_016859068
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382211,375,717 - 212,538,802 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017003580   ⟹   XP_016859069
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382211,375,717 - 212,538,802 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017003581   ⟹   XP_016859070
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382211,375,717 - 212,538,802 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017003582   ⟹   XP_016859071
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382211,375,717 - 211,734,619 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054341017   ⟹   XP_054196992
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02211,856,201 - 213,019,185 (-)NCBI
RefSeq Acc Id: XM_054341018   ⟹   XP_054196993
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02211,856,201 - 213,019,445 (-)NCBI
RefSeq Acc Id: XM_054341019   ⟹   XP_054196994
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02211,856,201 - 213,019,445 (-)NCBI
RefSeq Acc Id: XM_054341020   ⟹   XP_054196995
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02211,856,201 - 213,019,445 (-)NCBI
RefSeq Acc Id: XM_054341021   ⟹   XP_054196996
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02211,856,201 - 213,019,445 (-)NCBI
RefSeq Acc Id: XM_054341022   ⟹   XP_054196997
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02211,856,201 - 213,019,445 (-)NCBI
RefSeq Acc Id: XM_054341023   ⟹   XP_054196998
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02211,856,201 - 213,019,445 (-)NCBI
RefSeq Acc Id: XM_054341024   ⟹   XP_054196999
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02211,856,201 - 213,019,445 (-)NCBI
RefSeq Acc Id: XM_054341025   ⟹   XP_054197000
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02211,856,201 - 212,214,908 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001036064 (Get FASTA)   NCBI Sequence Viewer  
  NP_005226 (Get FASTA)   NCBI Sequence Viewer  
  XP_005246433 (Get FASTA)   NCBI Sequence Viewer  
  XP_005246434 (Get FASTA)   NCBI Sequence Viewer  
  XP_006712427 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859066 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859067 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859068 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859069 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859070 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859071 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196992 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196993 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196994 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196995 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196996 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196997 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196998 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196999 (Get FASTA)   NCBI Sequence Viewer  
  XP_054197000 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB59446 (Get FASTA)   NCBI Sequence Viewer  
  AAI12200 (Get FASTA)   NCBI Sequence Viewer  
  AAI43742 (Get FASTA)   NCBI Sequence Viewer  
  AAI43748 (Get FASTA)   NCBI Sequence Viewer  
  AAI43750 (Get FASTA)   NCBI Sequence Viewer  
  AAX82011 (Get FASTA)   NCBI Sequence Viewer  
  AAX88856 (Get FASTA)   NCBI Sequence Viewer  
  AAY14899 (Get FASTA)   NCBI Sequence Viewer  
  AAY15092 (Get FASTA)   NCBI Sequence Viewer  
  AAY24158 (Get FASTA)   NCBI Sequence Viewer  
  AAY24303 (Get FASTA)   NCBI Sequence Viewer  
  ALJ93279 (Get FASTA)   NCBI Sequence Viewer  
  ALJ93280 (Get FASTA)   NCBI Sequence Viewer  
  BAD92934 (Get FASTA)   NCBI Sequence Viewer  
  CAJ55818 (Get FASTA)   NCBI Sequence Viewer  
  CCQ43309 (Get FASTA)   NCBI Sequence Viewer  
  EAW70496 (Get FASTA)   NCBI Sequence Viewer  
  EAW70497 (Get FASTA)   NCBI Sequence Viewer  
  EAW70498 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000260943
  ENSP00000260943.7
  ENSP00000342235
  ENSP00000342235.4
  ENSP00000403204
  ENSP00000403204.1
  ENSP00000405564.1
GenBank Protein Q15303 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001036064   ⟸   NM_001042599
- Peptide Label: isoform JM-a/CVT-2 precursor
- Sequence:
RefSeq Acc Id: NP_005226   ⟸   NM_005235
- Peptide Label: isoform JM-a/CVT-1 precursor
- UniProtKB: Q2M1W1 (UniProtKB/Swiss-Prot),   B7ZLE3 (UniProtKB/Swiss-Prot),   B7ZLE2 (UniProtKB/Swiss-Prot),   B7ZLD7 (UniProtKB/Swiss-Prot),   Q59EW4 (UniProtKB/Swiss-Prot),   Q15303 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005246434   ⟸   XM_005246377
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_005246433   ⟸   XM_005246376
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_006712427   ⟸   XM_006712364
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016859070   ⟸   XM_017003581
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016859067   ⟸   XM_017003578
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016859069   ⟸   XM_017003580
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016859068   ⟸   XM_017003579
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016859066   ⟸   XM_017003577
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016859071   ⟸   XM_017003582
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: ENSP00000385565   ⟸   ENST00000402597
RefSeq Acc Id: ENSP00000260943   ⟸   ENST00000260943
RefSeq Acc Id: ENSP00000342235   ⟸   ENST00000342788
RefSeq Acc Id: ENSP00000405564   ⟸   ENST00000435846
RefSeq Acc Id: ENSP00000403204   ⟸   ENST00000436443
RefSeq Acc Id: XP_054196999   ⟸   XM_054341024
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054196998   ⟸   XM_054341023
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054196996   ⟸   XM_054341021
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054196997   ⟸   XM_054341022
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054196993   ⟸   XM_054341018
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054196995   ⟸   XM_054341020
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054196994   ⟸   XM_054341019
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054196992   ⟸   XM_054341017
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054197000   ⟸   XM_054341025
- Peptide Label: isoform X9
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q15303-F1-model_v2 AlphaFold Q15303 1-1308 view protein structure

Promoters
RGD ID:6862714
Promoter ID:EPDNEW_H4522
Type:initiation region
Name:ERBB4_3
Description:erb-b2 receptor tyrosine kinase 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4523  EPDNEW_H4524  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382212,538,642 - 212,538,702EPDNEW
RGD ID:6862716
Promoter ID:EPDNEW_H4523
Type:initiation region
Name:ERBB4_2
Description:erb-b2 receptor tyrosine kinase 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4522  EPDNEW_H4524  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382212,538,774 - 212,538,834EPDNEW
RGD ID:6862718
Promoter ID:EPDNEW_H4524
Type:initiation region
Name:ERBB4_1
Description:erb-b2 receptor tyrosine kinase 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4522  EPDNEW_H4523  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382212,539,182 - 212,539,242EPDNEW
RGD ID:6797443
Promoter ID:HG_KWN:37039
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000342788,   ENST00000402597,   OTTHUMT00000336976,   OTTHUMT00000336978,   UC010FUT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362213,111,391 - 213,111,891 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3432 AgrOrtholog
COSMIC ERBB4 COSMIC
Ensembl Genes ENSG00000178568 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000260943 ENTREZGENE
  ENST00000260943.11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENST00000342788 ENTREZGENE
  ENST00000342788.9 UniProtKB/Swiss-Prot
  ENST00000435846.1 UniProtKB/TrEMBL
  ENST00000436443 ENTREZGENE
  ENST00000436443.5 UniProtKB/Swiss-Prot
Gene3D-CATH 3.80.20.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6.10.250.2930 UniProtKB/TrEMBL
  6.10.250.880 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  membrane-bound form of the juxtamembrane domain of the epidermal growth factor receptor like domain UniProtKB/TrEMBL
  Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000178568 GTEx
HGNC ID HGNC:3432 ENTREZGENE
Human Proteome Map ERBB4 Human Proteome Map
InterPro Egfr_JX_dom UniProtKB/TrEMBL
  Furin-like_Cys-rich_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Furin_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GF_recep_IV UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Growth_fac_rcpt_cys_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rcpt_L-dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rcpt_L-dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser-Thr/Tyr_kinase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TM_ErbB1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_EGF/ERB/XmrK_rcpt UniProtKB/Swiss-Prot
KEGG Report hsa:2066 UniProtKB/Swiss-Prot
NCBI Gene 2066 ENTREZGENE
OMIM 600543 OMIM
PANTHER RECEPTOR TYROSINE-PROTEIN KINASE ERBB-4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYROSINE-PROTEIN KINASE RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Furin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GF_recep_IV UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase_Tyr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Recep_L_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TM_ErbB1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB ERBB4 RGD, PharmGKB
PIRSF TyrPK_EGF-R UniProtKB/Swiss-Prot
PRINTS TYRKINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_TYR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00261 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TyrKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP L domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57184 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0P0I3A3_HUMAN UniProtKB/TrEMBL
  A0A0P0IT07_HUMAN UniProtKB/TrEMBL
  B7ZLD7 ENTREZGENE
  B7ZLE2 ENTREZGENE
  B7ZLE3 ENTREZGENE
  E9PDR1_HUMAN UniProtKB/TrEMBL
  ERBB4_HUMAN UniProtKB/Swiss-Prot
  H3BLT0_HUMAN UniProtKB/TrEMBL
  L8E872_HUMAN UniProtKB/TrEMBL
  Q15303 ENTREZGENE
  Q2M1W1 ENTREZGENE
  Q4ZG14_HUMAN UniProtKB/TrEMBL
  Q53QS8_HUMAN UniProtKB/TrEMBL
  Q53R25_HUMAN UniProtKB/TrEMBL
  Q53R48_HUMAN UniProtKB/TrEMBL
  Q53T57_HUMAN UniProtKB/TrEMBL
  Q580Q7_HUMAN UniProtKB/TrEMBL
  Q59EW4 ENTREZGENE
UniProt Secondary B7ZLD7 UniProtKB/Swiss-Prot
  B7ZLE2 UniProtKB/Swiss-Prot
  B7ZLE3 UniProtKB/Swiss-Prot
  Q2M1W1 UniProtKB/Swiss-Prot
  Q59EW4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-12-23 ERBB4  erb-b2 receptor tyrosine kinase 4  ERBB4  v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4  Symbol and/or name change 5135510 APPROVED
2013-07-16 ERBB4  v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4  ERBB4  v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian)  Symbol and/or name change 5135510 APPROVED