GSN (gelsolin) - Rat Genome Database

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Gene: GSN (gelsolin) Homo sapiens
Analyze
Symbol: GSN
Name: gelsolin
RGD ID: 1346375
HGNC Page HGNC:4620
Description: Enables calcium ion binding activity; cytoskeletal protein binding activity; and phosphatidylinositol 3-kinase catalytic subunit binding activity. Involved in several processes, including actin polymerization or depolymerization; amyloid fibril formation; and regulation of actin filament organization. Located in several cellular components, including actin cytoskeleton; extracellular space; and sarcoplasm. Implicated in Finnish type amyloidosis. Biomarker of cerebral infarction; gas gangrene; myocardial infarction; pre-eclampsia; and rheumatic myocarditis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: actin-depolymerizing factor; ADF; AGEL; brevin; DKFZp313L0718
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
GRCh389121,201,483 - 121,332,842 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9121,207,794 - 121,332,843 (+)EnsemblGRCh38hg38GRCh38
GRCh379123,963,761 - 124,095,120 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369123,070,201 - 123,134,941 (+)NCBINCBI36Build 36hg18NCBI36
Build 349121,109,960 - 121,174,674NCBI
Celera994,678,898 - 94,743,628 (+)NCBICelera
Cytogenetic Map9q33.2NCBI
HuRef993,648,171 - 93,712,883 (+)NCBIHuRef
CHM1_19124,177,269 - 124,242,004 (+)NCBICHM1_1
T2T-CHM13v2.09133,397,510 - 133,528,852 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3-dinitrobenzene  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3-dimethoxynaphthalene-1,4-dione  (EXP)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2,5-hexanedione  (ISO)
2-(3,4-dimethoxyphenyl)-5-\{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino\}-2-(propan-2-yl)pentanenitrile  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxynon-2-enal  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
acetylsalicylic acid  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
Aflatoxin B2 alpha  (EXP)
aldehydo-D-glucose  (EXP)
all-trans-retinoic acid  (EXP,ISO)
aminoglutethimide  (EXP)
amiodarone  (ISO)
arabinogalactan  (ISO)
aristolochic acid A  (EXP)
arsenous acid  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
bilirubin IXalpha  (EXP)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
bleomycin A2  (ISO)
butyric acid  (EXP)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
calcitriol  (EXP)
cannabidiol  (EXP)
cantharidin  (ISO)
carbon nanotube  (EXP,ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (ISO)
cobalt dichloride  (EXP)
cocaine  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
cumene  (ISO)
Cuprizon  (EXP,ISO)
curcumin  (ISO)
cyclosporin A  (EXP)
D-glucose  (EXP)
DDT  (EXP)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
diclofenac  (ISO)
diethyl maleate  (ISO)
dimethylselenide  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
elemental selenium  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
fipronil  (ISO)
folic acid  (ISO)
fulvestrant  (EXP)
furan  (ISO)
genistein  (ISO)
gentamycin  (ISO)
glucose  (EXP)
gold atom  (EXP,ISO)
gold(0)  (EXP,ISO)
GW 4064  (ISO)
hyaluronic acid  (ISO)
hydralazine  (EXP)
hydrogen peroxide  (EXP,ISO)
hydroxyl  (EXP)
indole-3-methanol  (ISO)
indometacin  (EXP)
inulin  (ISO)
ivermectin  (EXP)
lead(0)  (EXP)
lipopolysaccharide  (ISO)
medroxyprogesterone acetate  (EXP)
menadione  (EXP)
mercury atom  (EXP)
mercury(0)  (EXP)
metformin  (EXP)
methotrexate  (EXP)
methylmercury chloride  (EXP)
methylseleninic acid  (EXP)
microcystin-LR  (ISO)
Muraglitazar  (ISO)
N-nitrosodimethylamine  (EXP)
navitoclax  (EXP)
nickel atom  (EXP)
nickel sulfate  (EXP)
nitric oxide  (ISO)
nitroglycerin  (ISO)
ozone  (EXP,ISO)
p-menthan-3-ol  (EXP)
paclitaxel  (EXP)
paracetamol  (EXP,ISO)
PCB138  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenethyl isothiocyanate  (EXP)
phenobarbital  (ISO)
phenylhydrazine  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (EXP)
progesterone  (ISO)
quercetin  (EXP)
resveratrol  (EXP)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (ISO)
SB 431542  (EXP)
selenium atom  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (ISO)
sodium fluoride  (ISO)
Sodium salicylate  (EXP)
Soman  (ISO)
succimer  (ISO)
sulforaphane  (EXP)
sunitinib  (EXP)
tamibarotene  (EXP)
temozolomide  (EXP)
tert-butyl hydroperoxide  (ISO)
Tesaglitazar  (ISO)
testosterone  (EXP,ISO)
tetrachloromethane  (ISO)
tetrahydropalmatine  (EXP)
thapsigargin  (ISO)
titanium dioxide  (ISO)
toxaphene  (EXP)
trichostatin A  (EXP,ISO)
troglitazone  (EXP,ISO)
urethane  (ISO)
valproic acid  (EXP,ISO)
verapamil  (ISO)
vinclozolin  (ISO)
vitamin E  (EXP)
vorinostat  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
actin cytoskeleton organization  (IEA)
actin filament capping  (IEA,IMP,ISS)
actin filament depolymerization  (IDA,IEA,ISO)
actin filament organization  (IGI)
actin filament polymerization  (IDA,IEA,IMP)
actin filament severing  (IBA,IDA,IEA,IMP)
actin polymerization or depolymerization  (IBA,IEA,ISO)
amyloid fibril formation  (IMP)
barbed-end actin filament capping  (IBA,IEA,TAS)
cardiac muscle cell contraction  (IEA,ISS)
cell projection assembly  (IBA,IEA)
cell projection organization  (IEA)
cellular response to cadmium ion  (ISO)
cellular response to type II interferon  (IEA,ISO)
central nervous system development  (IBA,IEA)
cilium assembly  (IEA,IMP)
extracellular matrix disassembly  (IMP)
hepatocyte apoptotic process  (IMP)
oligodendrocyte development  (ISO)
phagocytosis, engulfment  (IEA,ISS)
positive regulation of actin nucleation  (IMP)
positive regulation of cardiac muscle hypertrophy  (ISO)
positive regulation of gene expression  (IMP)
positive regulation of keratinocyte apoptotic process  (IMP)
positive regulation of p38MAPK cascade  (ISO)
positive regulation of protein processing in phagocytic vesicle  (IEA,ISS)
protein destabilization  (IMP)
regulation of establishment of T cell polarity  (IMP)
regulation of plasma membrane raft polarization  (IMP)
regulation of podosome assembly  (IMP)
regulation of receptor clustering  (IMP)
relaxation of cardiac muscle  (IEA,ISS)
renal protein absorption  (IMP)
response to ethanol  (ISO)
response to folic acid  (ISO)
response to muscle stretch  (IEA,ISS)
sequestering of actin monomers  (IMP)
striated muscle atrophy  (IMP)
tissue regeneration  (ISO)
vesicle-mediated transport  (IEA,ISO)

Molecular Function

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

Human Phenotype
Abnormal spleen morphology  (IAGP)
Abnormality of the eye  (IAGP)
Abnormality of the nervous system  (IAGP)
Adult onset  (IAGP)
Amyloidosis  (IAGP)
Arrhythmia  (IAGP)
Ataxia  (IAGP)
Atrial fibrillation  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bilateral ptosis  (IAGP)
Blepharochalasis  (IAGP)
Bruising susceptibility  (IAGP)
Bulbar palsy  (IAGP)
Bulbar signs  (IAGP)
Cardiac amyloidosis  (IAGP)
Cardiomyopathy  (IAGP)
Cataract  (IAGP)
Constrictive median neuropathy  (IAGP)
Corneal ulceration  (IAGP)
Cutis laxa  (IAGP)
Decreased heart rate variability  (IAGP)
Deficit in phonologic short-term memory  (IAGP)
Depression  (IAGP)
Dermatological manifestations of systemic disorders  (IAGP)
Diffuse skin atrophy  (IAGP)
Distal peripheral sensory neuropathy  (IAGP)
Dry skin  (IAGP)
Dysarthria  (IAGP)
Edema  (IAGP)
Facial palsy  (IAGP)
Generalized amyloid deposition  (IAGP)
Glaucoma  (IAGP)
Hearing impairment  (IAGP)
Keratoconjunctivitis sicca  (IAGP)
Lattice corneal dystrophy  (IAGP)
Myokymia  (IAGP)
Nail dystrophy  (IAGP)
Nephrotic syndrome  (IAGP)
Optic neuropathy  (IAGP)
Orthostatic hypotension  (IAGP)
Orthostatic hypotension due to autonomic dysfunction  (IAGP)
Polyneuropathy  (IAGP)
Proteinuria  (IAGP)
Pruritus  (IAGP)
Regional abnormality of skin  (IAGP)
Renal glomerular amyloid deposition  (IAGP)
Renal insufficiency  (IAGP)
Respiratory tract infection  (IAGP)
Sleep apnea  (IAGP)
Sparse hair  (IAGP)
Stage 5 chronic kidney disease  (IAGP)
Tongue atrophy  (IAGP)
Urolithiasis  (IAGP)
Visual impairment  (IAGP)
Xerostomia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Plasma gelsolin as a biomarker of acute rheumatic carditis. Argun M, etal., Cardiol Young. 2015 Oct;25(7):1276-80. doi: 10.1017/S1047951114002327. Epub 2014 Nov 18.
2. Widespread loss of gelsolin in breast cancers of humans, mice, and rats. Asch HL, etal., Cancer Res. 1996 Nov 1;56(21):4841-5.
3. Pulmonary vascular permeability and ischemic injury in gelsolin-deficient mice. Becker PM, etal., Am J Respir Cell Mol Biol. 2003 Apr;28(4):478-84. doi: 10.1165/rcmb.2002-0024OC.
4. Altered plasma-type gelsolin and amyloid-β in neonates with hypoxic-ischaemic encephalopathy under therapeutic hypothermia. Benavente-Fernandez I, etal., J Cereb Blood Flow Metab. 2019 Jul;39(7):1349-1354. doi: 10.1177/0271678X18757419. Epub 2018 Feb 21.
5. Gelsolin and Progression of Aortic Arch Calcification in Chronic Hemodialysis Patients. Chiou TT, etal., Int J Med Sci. 2016 Jan 29;13(2):92-8. doi: 10.7150/ijms.13785. eCollection 2016.
6. Neuroprotective effects of gelsolin during murine stroke. Endres M, etal., J Clin Invest. 1999 Feb;103(3):347-54. doi: 10.1172/JCI4953.
7. The cytoskeleton in 'couch potato-ism': Insights from a murine model of impaired actin dynamics. Gertz K, etal., Exp Neurol. 2018 Aug;306:34-44. doi: 10.1016/j.expneurol.2018.04.004. Epub 2018 Apr 21.
8. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
9. Plasma gelsolin levels and 1-year mortality after first-ever ischemic stroke. Guo XC, etal., J Crit Care. 2011 Dec;26(6):608-12. doi: 10.1016/j.jcrc.2011.02.007. Epub 2011 Apr 9.
10. Protective effects of gelsolin in acute pulmonary thromboembolism and thrombosis in the carotid artery of mice. Gupta AK, etal., PLoS One. 2019 Apr 19;14(4):e0215717. doi: 10.1371/journal.pone.0215717. eCollection 2019.
11. Oral administration of alcalase potato protein hydrolysate-APPH attenuates high fat diet-induced cardiac complications via TGF-β/GSN axis in aging rats. Hu WS, etal., Environ Toxicol. 2019 Jan;34(1):5-12. doi: 10.1002/tox.22651. Epub 2018 Sep 21.
12. Mutation in gelsolin gene in Finnish hereditary amyloidosis. Levy E, etal., J Exp Med. 1990 Dec 1;172(6):1865-7.
13. Gelsolin regulates cardiac remodeling after myocardial infarction through DNase I-mediated apoptosis. Li GH, etal., Circ Res. 2009 Apr 10;104(7):896-904. doi: 10.1161/CIRCRESAHA.108.172882. Epub 2009 Feb 26.
14. Larch Arabinogalactan Attenuates Myocardial Injury by Inhibiting Apoptotic Cascades in a Rat Model of Ischemia-Reperfusion. Lim SH, J Med Food. 2017 Jul;20(7):691-699. doi: 10.1089/jmf.2016.3886. Epub 2017 Jun 16.
15. Gene expression profile changes are commonly modulated across models and species after traumatic brain injury. Natale JE, etal., J Neurotrauma. 2003 Oct;20(10):907-27.
16. Gelsolin gene expression is upregulated in damaged rat and human livers within non-parenchymal cells and not in hepatocytes. Neubauer K, etal., Histochem Cell Biol. 2003 Oct;120(4):265-75. Epub 2003 Aug 28.
17. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
18. Plasma gelsolin levels and outcomes after aneurysmal subarachnoid hemorrhage. Pan JW, etal., Crit Care. 2013 Jul 23;17(4):R149. doi: 10.1186/cc12828.
19. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
20. Gelsolin immunoreactivity and development of the tectorial membrane in the cochlea of normal and hypothyroid rats. Rabie A, etal., Cell Tissue Res. 1988 Oct;254(1):241-5.
21. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
22. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
23. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
24. Lack of gelsolin promotes perpetuation of atrial fibrillation in the mouse heart. Schrickel JW, etal., J Interv Card Electrophysiol. 2009 Oct;26(1):3-10. doi: 10.1007/s10840-009-9425-4. Epub 2009 Aug 8.
25. Cognitive Impairment and Brain and Peripheral Alterations in a Murine Model of Intraventricular Hemorrhage in the Preterm Newborn. Segado-Arenas A, etal., Mol Neurobiol. 2018 Jun;55(6):4896-4910. doi: 10.1007/s12035-017-0693-1. Epub 2017 Jul 28.
26. Allele-specific expression in the human heart and its application to postoperative atrial fibrillation and myocardial ischemia. Sigurdsson MI, etal., Genome Med. 2016 Dec 6;8(1):127. doi: 10.1186/s13073-016-0381-1.
27. Circulating actin-gelsolin complexes following oleic acid-induced lung injury. Smith DB, etal., Am J Pathol. 1988 Feb;130(2):261-7.
28. Decreased plasma gelsolin concentrations in acute liver failure, myocardial infarction, septic shock, and myonecrosis. Suhler E, etal., Crit Care Med. 1997 Apr;25(4):594-8. doi: 10.1097/00003246-199704000-00007.
29. Investigation of the actin scavenging system in pre-eclampsia. Tannetta DS, etal., Eur J Obstet Gynecol Reprod Biol. 2014 Jan;172:32-5. doi: 10.1016/j.ejogrb.2013.10.022. Epub 2013 Oct 25.
30. Expression of Cytoplasmic Gelsolin in Rat Brain After Experimental Subarachnoid Hemorrhage. Xie GB, etal., Cell Mol Neurobiol. 2015 Jul;35(5):723-31. doi: 10.1007/s10571-015-0168-8. Epub 2015 Mar 6.
31. Inhibition of histone deacetylation protects wildtype but not gelsolin-deficient mice from ischemic brain injury. Yildirim F, etal., Exp Neurol. 2008 Apr;210(2):531-42. doi: 10.1016/j.expneurol.2007.11.031. Epub 2007 Dec 23.
32. Significant reduction of plasma gelsolin levels in patients with intracerebral hemorrhage. Zhao DQ, etal., Clin Chim Acta. 2013 Jan 16;415:202-6. doi: 10.1016/j.cca.2012.10.048. Epub 2012 Nov 7.
Additional References at PubMed
PMID:1311149   PMID:1315718   PMID:1321812   PMID:1322359   PMID:1338910   PMID:1652889   PMID:1658654   PMID:2153578   PMID:2157434   PMID:2176481   PMID:2831714   PMID:3020431  
PMID:6092370   PMID:6282935   PMID:7550233   PMID:7849017   PMID:7868127   PMID:8310295   PMID:8395021   PMID:8599675   PMID:8703941   PMID:9003812   PMID:9109384   PMID:9164868  
PMID:9323209   PMID:9671712   PMID:9819354   PMID:10210201   PMID:10329371   PMID:10521462   PMID:10583954   PMID:10669610   PMID:10793131   PMID:10802062   PMID:10809769   PMID:10945978  
PMID:11039896   PMID:11093254   PMID:11171090   PMID:11577104   PMID:11733011   PMID:11753432   PMID:11925941   PMID:12027462   PMID:12270712   PMID:12460571   PMID:12477932   PMID:12578912  
PMID:12592377   PMID:12601813   PMID:12613021   PMID:12655044   PMID:12665801   PMID:12732734   PMID:12752443   PMID:12833632   PMID:12941811   PMID:12966145   PMID:14527664   PMID:14527665  
PMID:14530271   PMID:14563843   PMID:14596804   PMID:14652020   PMID:14702039   PMID:14718574   PMID:15033777   PMID:15174051   PMID:15213223   PMID:15215896   PMID:15281090   PMID:15310273  
PMID:15377282   PMID:15489334   PMID:15526166   PMID:15527423   PMID:15538717   PMID:15604093   PMID:15922735   PMID:16008344   PMID:16169070   PMID:16217750   PMID:16300736   PMID:16344560  
PMID:16475811   PMID:16526095   PMID:16531231   PMID:16556605   PMID:16882345   PMID:17130841   PMID:17178161   PMID:17254575   PMID:17258204   PMID:17353931   PMID:17373842   PMID:17470807  
PMID:17534828   PMID:17556051   PMID:17620599   PMID:17720986   PMID:17982131   PMID:18204200   PMID:18266911   PMID:18584046   PMID:18656242   PMID:18689676   PMID:18704746   PMID:18723680  
PMID:18802097   PMID:18822171   PMID:18848913   PMID:19002257   PMID:19015515   PMID:19056867   PMID:19199708   PMID:19389844   PMID:19465002   PMID:19549824   PMID:19561443   PMID:19574450  
PMID:19601795   PMID:19625752   PMID:19666512   PMID:19666531   PMID:19805454   PMID:19883430   PMID:19904968   PMID:19956804   PMID:20093811   PMID:20111909   PMID:20308691   PMID:20379614  
PMID:20393563   PMID:20458337   PMID:20473970   PMID:20740538   PMID:20810916   PMID:20937821   PMID:21107322   PMID:21182205   PMID:21362503   PMID:21389683   PMID:21423176   PMID:21498516  
PMID:21786170   PMID:21798243   PMID:21801713   PMID:21826592   PMID:21828045   PMID:21873635   PMID:21940962   PMID:21997591   PMID:22069445   PMID:22190510   PMID:22340557   PMID:22516433  
PMID:22552326   PMID:22622774   PMID:22633459   PMID:22643940   PMID:22706076   PMID:22814255   PMID:22886630   PMID:22927998   PMID:22939629   PMID:22952982   PMID:23167427   PMID:23204381  
PMID:23324580   PMID:23325791   PMID:23376485   PMID:23418544   PMID:23533145   PMID:23536558   PMID:23537643   PMID:23575248   PMID:23729654   PMID:23750785   PMID:23874603   PMID:23925487  
PMID:24047347   PMID:24122723   PMID:24236012   PMID:24366813   PMID:24505034   PMID:24601799   PMID:24625528   PMID:24711643   PMID:24771612   PMID:24801599   PMID:24980225   PMID:25126004  
PMID:25130983   PMID:25144556   PMID:25164111   PMID:25223295   PMID:25246592   PMID:25324306   PMID:25451266   PMID:25478578   PMID:25544037   PMID:25581609   PMID:25600697   PMID:26149653  
PMID:26186194   PMID:26209609   PMID:26318415   PMID:26398833   PMID:26404905   PMID:26408687   PMID:26482896   PMID:26496610   PMID:26598132   PMID:26618866   PMID:26666486   PMID:26816005  
PMID:26823700   PMID:26848502   PMID:26878213   PMID:27058427   PMID:27068509   PMID:27072581   PMID:27121073   PMID:27153759   PMID:27173435   PMID:27193608   PMID:27371349   PMID:27391159  
PMID:27461278   PMID:27573444   PMID:27633054   PMID:27654294   PMID:27798885   PMID:27872092   PMID:27879149   PMID:27997897   PMID:28114138   PMID:28135711   PMID:28208683   PMID:28280241  
PMID:28302793   PMID:28377587   PMID:28385809   PMID:28431142   PMID:28440466   PMID:28469748   PMID:28514442   PMID:28515276   PMID:28599499   PMID:28675297   PMID:29069428   PMID:29102633  
PMID:29128334   PMID:29274870   PMID:29491746   PMID:29509190   PMID:29802200   PMID:29961565   PMID:30086165   PMID:30118659   PMID:30148861   PMID:30177722   PMID:30209976   PMID:30344098  
PMID:30417985   PMID:30568254   PMID:30575818   PMID:30625383   PMID:30711629   PMID:30771276   PMID:30824926   PMID:30833792   PMID:30890647   PMID:31243148   PMID:31273033   PMID:31300519  
PMID:31324722   PMID:31409639   PMID:31498927   PMID:31501420   PMID:31504936   PMID:31586073   PMID:31700155   PMID:31980649   PMID:32130729   PMID:32203420   PMID:32312517   PMID:32513696  
PMID:32687490   PMID:32707033   PMID:32780723   PMID:32814053   PMID:32886268   PMID:32992584   PMID:33024031   PMID:33060197   PMID:33111431   PMID:33194618   PMID:33303625   PMID:33499149  
PMID:33598831   PMID:33620599   PMID:33644029   PMID:33762435   PMID:33961781   PMID:33973672   PMID:34039624   PMID:34081922   PMID:34186245   PMID:34203775   PMID:34281830   PMID:34428256  
PMID:34440617   PMID:34504078   PMID:34551306   PMID:34642423   PMID:34645483   PMID:34687317   PMID:35013218   PMID:35031058   PMID:35122331   PMID:35271311   PMID:35338135   PMID:35446349  
PMID:35676659   PMID:35850772   PMID:35942641   PMID:35944360   PMID:35945219   PMID:36123327   PMID:36168627   PMID:36215168   PMID:36232890   PMID:36291171   PMID:36517590   PMID:36526897  
PMID:36574265   PMID:36602307   PMID:36650038   PMID:36881074   PMID:36898370   PMID:36912080   PMID:36967105   PMID:37120454   PMID:37232246   PMID:37958747   PMID:38113892   PMID:38216951  
PMID:38373391  


Genomics

Comparative Map Data
GSN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389121,201,483 - 121,332,842 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9121,207,794 - 121,332,843 (+)EnsemblGRCh38hg38GRCh38
GRCh379123,963,761 - 124,095,120 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369123,070,201 - 123,134,941 (+)NCBINCBI36Build 36hg18NCBI36
Build 349121,109,960 - 121,174,674NCBI
Celera994,678,898 - 94,743,628 (+)NCBICelera
Cytogenetic Map9q33.2NCBI
HuRef993,648,171 - 93,712,883 (+)NCBIHuRef
CHM1_19124,177,269 - 124,242,004 (+)NCBICHM1_1
T2T-CHM13v2.09133,397,510 - 133,528,852 (+)NCBIT2T-CHM13v2.0
Gsn
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39235,146,371 - 35,197,914 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl235,146,392 - 35,197,904 (+)EnsemblGRCm39 Ensembl
GRCm38235,256,359 - 35,307,902 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl235,256,380 - 35,307,892 (+)EnsemblGRCm38mm10GRCm38
MGSCv37235,137,960 - 35,163,412 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36235,104,449 - 35,129,901 (+)NCBIMGSCv36mm8
Celera234,977,113 - 35,002,613 (+)NCBICelera
Cytogenetic Map2BNCBI
cM Map223.5NCBI
Gsn
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8338,982,605 - 39,035,849 (+)NCBIGRCr8
mRatBN7.2318,585,166 - 18,638,404 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl318,585,172 - 18,638,402 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx321,683,799 - 21,710,538 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0330,268,837 - 30,295,574 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0328,522,714 - 28,549,446 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0314,456,106 - 14,508,922 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl314,467,330 - 14,508,911 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0319,773,655 - 19,826,463 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4314,360,245 - 14,386,313 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1314,256,616 - 14,282,685 (+)NCBI
Celera313,325,045 - 13,351,501 (+)NCBICelera
Cytogenetic Map3p11NCBI
Gsn
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554196,682,058 - 6,733,361 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554196,682,202 - 6,733,361 (-)NCBIChiLan1.0ChiLan1.0
GSN
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21118,011,809 - 18,076,682 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1918,014,159 - 18,079,040 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0992,413,819 - 92,460,483 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.19120,741,148 - 120,805,831 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9120,741,148 - 120,805,831 (+)Ensemblpanpan1.1panPan2
GSN
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11174,248,227 - 74,268,129 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1174,233,457 - 74,268,129 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1172,637,556 - 72,678,974 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01175,364,194 - 75,405,704 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1175,364,181 - 75,405,705 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11173,871,291 - 73,912,586 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01173,902,056 - 73,943,469 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01174,663,262 - 74,683,140 (+)NCBIUU_Cfam_GSD_1.0
Gsn
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947189,981,162 - 190,034,252 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364879,764,944 - 9,802,841 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364879,749,755 - 9,802,787 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GSN
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1261,307,008 - 261,372,848 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11261,295,711 - 261,372,848 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21293,381,825 - 293,388,559 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GSN
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11218,253,079 - 18,317,285 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1218,253,324 - 18,285,938 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603524,700,374 - 24,764,693 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gsn
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476013,943,888 - 13,969,905 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476013,943,680 - 14,004,660 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GSN
682 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_198252.3(GSN):c.1390_1392delinsTAT (p.Glu464Tyr) indel not provided [RCV000723078] Chr9:121324618..121324620 [GRCh38]
Chr9:124086896..124086898 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.487G>A (p.Asp163Asn) single nucleotide variant Inborn genetic diseases [RCV002362587]|Meretoja syndrome [RCV000017564]|not provided [RCV000489240] Chr9:121310819 [GRCh38]
Chr9:124073097 [GRCh37]
Chr9:9q33.2		 pathogenic
NM_198252.3(GSN):c.487G>T (p.Asp163Tyr) single nucleotide variant Meretoja syndrome [RCV000017565]|not provided [RCV003556034] Chr9:121310819 [GRCh38]
Chr9:124073097 [GRCh37]
Chr9:9q33.2		 pathogenic|likely pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 copy number gain See cases [RCV000051009] Chr9:121112395..138075224 [GRCh38]
Chr9:123874673..140969676 [GRCh37]
Chr9:122914494..140089497 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q33.2-33.3(chr9:120938041-123469664)x1 copy number loss See cases [RCV000052922] Chr9:120938041..123469664 [GRCh38]
Chr9:123700319..126231943 [GRCh37]
Chr9:122740140..125271764 [NCBI36]
Chr9:9q33.2-33.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 copy number gain See cases [RCV000134920] Chr9:121073102..138179445 [GRCh38]
Chr9:123835380..141073897 [GRCh37]
Chr9:122875201..140193718 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_198252.3(GSN):c.1663G>A (p.Val555Met) single nucleotide variant GSN-related condition [RCV003932513]|Inborn genetic diseases [RCV002411261]|Meretoja syndrome [RCV000267836]|not provided [RCV000908629]|not specified [RCV001821113] Chr9:121327383 [GRCh38]
Chr9:124089661 [GRCh37]
Chr9:9q33.2		 benign|likely benign
NM_198252.3(GSN):c.781G>A (p.Val261Ile) single nucleotide variant Amyloidosis [RCV000283584]|Meretoja syndrome [RCV002481255]|not provided [RCV002523732] Chr9:121317113 [GRCh38]
Chr9:124079391 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1191+4C>T single nucleotide variant Inborn genetic diseases [RCV002379252]|Meretoja syndrome [RCV000343885]|not provided [RCV001865246] Chr9:121318884 [GRCh38]
Chr9:124081162 [GRCh37]
Chr9:9q33.2		 benign|likely benign|uncertain significance
NM_198252.3(GSN):c.1563C>T (p.Ser521=) single nucleotide variant Inborn genetic diseases [RCV002402083]|Meretoja syndrome [RCV000321730]|not provided [RCV002058768] Chr9:121326658 [GRCh38]
Chr9:124088936 [GRCh37]
Chr9:9q33.2		 benign|likely benign
NM_198252.3(GSN):c.1694C>T (p.Thr565Met) single nucleotide variant Meretoja syndrome [RCV000322979]|not provided [RCV001683444] Chr9:121327414 [GRCh38]
Chr9:124089692 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.1487A>G (p.Tyr496Cys) single nucleotide variant Inborn genetic diseases [RCV002402080]|Meretoja syndrome [RCV000369097]|not provided [RCV002061312] Chr9:121326582 [GRCh38]
Chr9:124088860 [GRCh37]
Chr9:9q33.2		 benign|likely benign
NM_198252.3(GSN):c.196+7C>T single nucleotide variant Meretoja syndrome [RCV000371221]|not provided [RCV000879016] Chr9:121302174 [GRCh38]
Chr9:124064452 [GRCh37]
Chr9:9q33.2		 benign|likely benign
NM_198252.3(GSN):c.271C>T (p.Arg91Trp) single nucleotide variant Inborn genetic diseases [RCV002328888]|Meretoja syndrome [RCV000372173]|not provided [RCV001865245] Chr9:121302985 [GRCh38]
Chr9:124065263 [GRCh37]
Chr9:9q33.2		 benign|likely benign|uncertain significance
NM_198252.3(GSN):c.1098G>A (p.Val366=) single nucleotide variant Inborn genetic diseases [RCV002411260]|Meretoja syndrome [RCV000397866]|not provided [RCV002061311] Chr9:121318787 [GRCh38]
Chr9:124081065 [GRCh37]
Chr9:9q33.2		 benign|likely benign
NM_198252.3(GSN):c.1288C>T (p.Arg430Cys) single nucleotide variant GSN-related condition [RCV003932512]|Inborn genetic diseases [RCV002392924]|Meretoja syndrome [RCV000398476]|not provided [RCV000882012]|not specified [RCV001821112] Chr9:121321364 [GRCh38]
Chr9:124083642 [GRCh37]
Chr9:9q33.2		 benign|likely benign
NM_198252.3(GSN):c.*136dup duplication Amyloidosis [RCV000305154] Chr9:121332725..121332726 [GRCh38]
Chr9:124095003..124095004 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.*185G>A single nucleotide variant Meretoja syndrome [RCV000326004] Chr9:121332788 [GRCh38]
Chr9:124095066 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1260C>T (p.Gly420=) single nucleotide variant GSN-related condition [RCV003957863]|Meretoja syndrome [RCV000349867]|not provided [RCV001643104] Chr9:121321336 [GRCh38]
Chr9:124083614 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.*205G>A single nucleotide variant Meretoja syndrome [RCV000272138] Chr9:121332808 [GRCh38]
Chr9:124095086 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1170C>T (p.Asp390=) single nucleotide variant Inborn genetic diseases [RCV002379251]|Meretoja syndrome [RCV000288952]|not provided [RCV000921208] Chr9:121318859 [GRCh38]
Chr9:124081137 [GRCh37]
Chr9:9q33.2		 benign|likely benign
NM_198252.3(GSN):c.1577G>A (p.Arg526Gln) single nucleotide variant Inborn genetic diseases [RCV002402084]|Meretoja syndrome [RCV000376344]|not provided [RCV002523734] Chr9:121326672 [GRCh38]
Chr9:124088950 [GRCh37]
Chr9:9q33.2		 likely benign|uncertain significance
NM_198252.3(GSN):c.1239A>G (p.Thr413=) single nucleotide variant Inborn genetic diseases [RCV002392923]|Meretoja syndrome [RCV000308967]|not provided [RCV000956749]|not specified [RCV001796018] Chr9:121321315 [GRCh38]
Chr9:124083593 [GRCh37]
Chr9:9q33.2		 benign|likely benign
NM_198252.3(GSN):c.2115T>C (p.Phe705=) single nucleotide variant Meretoja syndrome [RCV000352565]|not provided [RCV001595002] Chr9:121332522 [GRCh38]
Chr9:124094800 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.723G>A (p.Ala241=) single nucleotide variant Inborn genetic diseases [RCV002374606]|Meretoja syndrome [RCV000378084] Chr9:121313993 [GRCh38]
Chr9:124076271 [GRCh37]
Chr9:9q33.2		 likely benign|uncertain significance
NM_198252.3(GSN):c.1931C>T (p.Thr644Met) single nucleotide variant Inborn genetic diseases [RCV002418218]|Meretoja syndrome [RCV000291668]|not provided [RCV000891402] Chr9:121329281 [GRCh38]
Chr9:124091559 [GRCh37]
Chr9:9q33.2		 benign|likely benign
NM_198252.3(GSN):c.163G>A (p.Gly55Arg) single nucleotide variant Meretoja syndrome [RCV000330487] Chr9:121302134 [GRCh38]
Chr9:124064412 [GRCh37]
Chr9:9q33.2		 benign|likely benign
NM_198252.3(GSN):c.123C>T (p.Gly41=) single nucleotide variant GSN-related condition [RCV003972537]|Inborn genetic diseases [RCV002436223]|Meretoja syndrome [RCV000275412]|not provided [RCV002523730] Chr9:121302094 [GRCh38]
Chr9:124064372 [GRCh37]
Chr9:9q33.2		 likely benign|uncertain significance
NM_198252.3(GSN):c.1782G>A (p.Leu594=) single nucleotide variant Inborn genetic diseases [RCV002411262]|Meretoja syndrome [RCV000381432]|not provided [RCV000964310]|not specified [RCV001821114] Chr9:121328910 [GRCh38]
Chr9:124091188 [GRCh37]
Chr9:9q33.2		 benign|likely benign
NM_198252.3(GSN):c.1513G>A (p.Gly505Arg) single nucleotide variant Inborn genetic diseases [RCV002402081]|Meretoja syndrome [RCV000260878]|not provided [RCV002061313]|not specified [RCV003151050] Chr9:121326608 [GRCh38]
Chr9:124088886 [GRCh37]
Chr9:9q33.2		 benign|likely benign
NM_198252.3(GSN):c.232G>A (p.Ala78Thr) single nucleotide variant Meretoja syndrome [RCV000276675]|not provided [RCV001692064] Chr9:121302946 [GRCh38]
Chr9:124065224 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.2046G>A (p.Thr682=) single nucleotide variant Inborn genetic diseases [RCV002429331]|Meretoja syndrome [RCV000292978]|not provided [RCV000924267] Chr9:121332453 [GRCh38]
Chr9:124094731 [GRCh37]
Chr9:9q33.2		 benign|likely benign
NM_198252.3(GSN):c.1553G>A (p.Arg518His) single nucleotide variant Meretoja syndrome [RCV000356817] Chr9:121326648 [GRCh38]
Chr9:124088926 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1555G>A (p.Ala519Thr) single nucleotide variant Inborn genetic diseases [RCV002402082]|Meretoja syndrome [RCV000262080]|not provided [RCV001531107] Chr9:121326650 [GRCh38]
Chr9:124088928 [GRCh37]
Chr9:9q33.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_198252.3(GSN):c.1421G>A (p.Arg474His) single nucleotide variant Inborn genetic diseases [RCV002402079]|Meretoja syndrome [RCV000314461]|not provided [RCV001850932] Chr9:121326516 [GRCh38]
Chr9:124088794 [GRCh37]
Chr9:9q33.2		 benign|likely benign|uncertain significance
NM_198252.3(GSN):c.1535C>G (p.Thr512Ser) single nucleotide variant Meretoja syndrome [RCV000297409]|not provided [RCV002058767] Chr9:121326630 [GRCh38]
Chr9:124088908 [GRCh37]
Chr9:9q33.2		 benign|likely benign
NM_198252.3(GSN):c.1225G>A (p.Val409Met) single nucleotide variant Inborn genetic diseases [RCV002379253]|Meretoja syndrome [RCV000390100]|not provided [RCV001729569]|not specified [RCV003151049] Chr9:121321301 [GRCh38]
Chr9:124083579 [GRCh37]
Chr9:9q33.2		 benign|likely benign
NM_198252.3(GSN):c.382G>A (p.Val128Met) single nucleotide variant Meretoja syndrome [RCV000282194]|not provided [RCV000957620]|not specified [RCV001821111] Chr9:121310714 [GRCh38]
Chr9:124072992 [GRCh37]
Chr9:9q33.2		 benign|likely benign
NM_198252.3(GSN):c.243C>T (p.Thr81=) single nucleotide variant Inborn genetic diseases [RCV002374605]|Meretoja syndrome [RCV000317499]|not provided [RCV000881338]|not specified [RCV001821110] Chr9:121302957 [GRCh38]
Chr9:124065235 [GRCh37]
Chr9:9q33.2		 benign|likely benign
NM_198252.3(GSN):c.546T>G (p.Asn182Lys) single nucleotide variant Meretoja syndrome [RCV000318498]|not provided [RCV002523731] Chr9:121312371 [GRCh38]
Chr9:124074649 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.29A>G (p.Lys10Arg) single nucleotide variant GSN-related condition [RCV003912565]|Meretoja syndrome [RCV000365448]|not provided [RCV000956748] Chr9:121302000 [GRCh38]
Chr9:124064278 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.*116_*117insG insertion Amyloidosis [RCV000300139] Chr9:121332719..121332720 [GRCh38]
Chr9:124094997..124094998 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1037G>A (p.Arg346Gln) single nucleotide variant Inborn genetic diseases [RCV002348120]|Meretoja syndrome [RCV000343155]|not provided [RCV002523733] Chr9:121318726 [GRCh38]
Chr9:124081004 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.*126T>C single nucleotide variant Meretoja syndrome [RCV000269863] Chr9:121332729 [GRCh38]
Chr9:124095007 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.*97GT[11] microsatellite Amyloidosis [RCV000298820] Chr9:121332699..121332700 [GRCh38]
Chr9:124094977..124094978 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.*97GT[12] microsatellite Amyloidosis [RCV000335203] Chr9:121332699..121332700 [GRCh38]
Chr9:124094977..124094978 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.*120_*121insG insertion Amyloidosis [RCV000264032] Chr9:121332723..121332724 [GRCh38]
Chr9:124095001..124095002 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.*116_*117insGTG insertion Amyloidosis [RCV000359616] Chr9:121332719..121332720 [GRCh38]
Chr9:124094997..124094998 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.*97GT[13] microsatellite Amyloidosis [RCV000402364] Chr9:121332699..121332700 [GRCh38]
Chr9:124094977..124094978 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1942A>G (p.Met648Val) single nucleotide variant Meretoja syndrome [RCV000346533] Chr9:121329292 [GRCh38]
Chr9:124091570 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.*194G>A single nucleotide variant Meretoja syndrome [RCV000385243] Chr9:121332797 [GRCh38]
Chr9:124095075 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.2002G>A (p.Glu668Lys) single nucleotide variant Meretoja syndrome [RCV000387049] Chr9:121331424 [GRCh38]
Chr9:124093702 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.-9-2137C>T single nucleotide variant Meretoja syndrome [RCV000407809] Chr9:121299826 [GRCh38]
Chr9:124062104 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.-9-2021G>A single nucleotide variant Inborn genetic diseases [RCV002429330]|Meretoja syndrome [RCV000310766]|not provided [RCV001861339] Chr9:121299942 [GRCh38]
Chr9:124062220 [GRCh37]
Chr9:9q33.2		 likely benign|uncertain significance
NM_198252.3(GSN):c.*97_*98insGGTG insertion Amyloidosis [RCV000395703] Chr9:121332699..121332700 [GRCh38]
Chr9:124094977..124094978 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.*124_*125insC insertion Amyloidosis [RCV000359858] Chr9:121332727..121332728 [GRCh38]
Chr9:124095005..124095006 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.-9-1967C>T single nucleotide variant Meretoja syndrome [RCV001169574]|not provided [RCV002068043]|not specified [RCV001819870] Chr9:121299996 [GRCh38]
Chr9:124062274 [GRCh37]
Chr9:9q33.2		 benign|likely benign
NM_198252.3(GSN):c.-4C>G single nucleotide variant Meretoja syndrome [RCV001169575] Chr9:121301968 [GRCh38]
Chr9:124064246 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1323del (p.Trp442fs) deletion not provided [RCV000585506] Chr9:121321399 [GRCh38]
Chr9:124083677 [GRCh37]
Chr9:9q33.2		 likely pathogenic|uncertain significance
NM_198252.3(GSN):c.-9-2091_-9-2064del deletion Inborn genetic diseases [RCV002424740]|Meretoja syndrome [RCV003338770]|not provided [RCV000723091] Chr9:121299869..121299896 [GRCh38]
Chr9:124062147..124062174 [GRCh37]
Chr9:9q33.2		 benign|likely benign|uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q33.2(chr9:124039419-124444887)x3 copy number gain See cases [RCV000445677] Chr9:124039419..124444887 [GRCh37]
Chr9:9q33.2		 uncertain significance
GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)x1 copy number loss See cases [RCV000447763] Chr9:104604851..126253089 [GRCh37]
Chr9:9q31.1-33.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_198252.3(GSN):c.2054C>G (p.Ala685Gly) single nucleotide variant not provided [RCV000498026] Chr9:121332461 [GRCh38]
Chr9:124094739 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1723C>T (p.Arg575Trp) single nucleotide variant Inborn genetic diseases [RCV003280306] Chr9:121327443 [GRCh38]
Chr9:124089721 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.227C>T (p.Ala76Val) single nucleotide variant not provided [RCV000969559]|not specified [RCV000610660] Chr9:121302941 [GRCh38]
Chr9:124065219 [GRCh37]
Chr9:9q33.2		 benign|likely benign
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q31.3-33.3(chr9:113083182-126779494)x1 copy number loss not provided [RCV000748606] Chr9:113083182..126779494 [GRCh37]
Chr9:9q31.3-33.3		 pathogenic
GRCh37/hg19 9q33.2(chr9:124094435-124160616)x3 copy number gain not provided [RCV000748644] Chr9:124094435..124160616 [GRCh37]
Chr9:9q33.2		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_198252.3(GSN):c.1417-59A>G single nucleotide variant not provided [RCV001644155] Chr9:121326453 [GRCh38]
Chr9:124088731 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.1417-22T>C single nucleotide variant Meretoja syndrome [RCV001703056]|not provided [RCV001688706] Chr9:121326490 [GRCh38]
Chr9:124088768 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.393C>T (p.Asn131=) single nucleotide variant GSN-related condition [RCV003975668]|Meretoja syndrome [RCV002501499]|not provided [RCV000895499] Chr9:121310725 [GRCh38]
Chr9:124073003 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.-10+4458G>A single nucleotide variant not provided [RCV001693288] Chr9:121286020 [GRCh38]
Chr9:124048298 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.1965+192G>A single nucleotide variant not provided [RCV001641942] Chr9:121329507 [GRCh38]
Chr9:124091785 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.351+173G>A single nucleotide variant not provided [RCV001692704] Chr9:121303238 [GRCh38]
Chr9:124065516 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.1416+108TCCA[9] microsatellite not provided [RCV001665865] Chr9:121324752..121324759 [GRCh38]
Chr9:124087030..124087037 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.1763-34G>A single nucleotide variant Meretoja syndrome [RCV001702946]|not provided [RCV001655442] Chr9:121328857 [GRCh38]
Chr9:124091135 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.197-5C>T single nucleotide variant Inborn genetic diseases [RCV002336995]|not provided [RCV000949954] Chr9:121302906 [GRCh38]
Chr9:124065184 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.631G>C (p.Glu211Gln) single nucleotide variant not provided [RCV000903292] Chr9:121312456 [GRCh38]
Chr9:124074734 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.786C>T (p.Ser262=) single nucleotide variant not provided [RCV000914523] Chr9:121317118 [GRCh38]
Chr9:124079396 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.75C>G (p.Phe25Leu) single nucleotide variant not provided [RCV000880984] Chr9:121302046 [GRCh38]
Chr9:124064324 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.156G>A (p.Leu52=) single nucleotide variant not provided [RCV000937227] Chr9:121302127 [GRCh38]
Chr9:124064405 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1089C>T (p.Ile363=) single nucleotide variant not provided [RCV000923830] Chr9:121318778 [GRCh38]
Chr9:124081056 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.-9-2066_-9-2060del deletion Meretoja syndrome [RCV000779569]|not provided [RCV001567670] Chr9:121299895..121299901 [GRCh38]
Chr9:124062173..124062179 [GRCh37]
Chr9:9q33.2		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_198252.3(GSN):c.1009C>T (p.Leu337=) single nucleotide variant Meretoja syndrome [RCV001253934]|not provided [RCV000918206] Chr9:121318698 [GRCh38]
Chr9:124080976 [GRCh37]
Chr9:9q33.2		 benign|likely benign
NM_198252.3(GSN):c.1443C>T (p.Pro481=) single nucleotide variant Meretoja syndrome [RCV001165664]|not provided [RCV000938536] Chr9:121326538 [GRCh38]
Chr9:124088816 [GRCh37]
Chr9:9q33.2		 benign|likely benign
NM_198252.3(GSN):c.1507G>A (p.Glu503Lys) single nucleotide variant Inborn genetic diseases [RCV002556363]|Meretoja syndrome [RCV002484483]|not provided [RCV001945059] Chr9:121326602 [GRCh38]
Chr9:124088880 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.276C>T (p.Ala92=) single nucleotide variant Meretoja syndrome [RCV002495516]|not provided [RCV000914646] Chr9:121302990 [GRCh38]
Chr9:124065268 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.7G>T (p.Val3Leu) single nucleotide variant Meretoja syndrome [RCV001165599]|not provided [RCV001859065] Chr9:121301978 [GRCh38]
Chr9:124064256 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.*98T>A single nucleotide variant Meretoja syndrome [RCV001165729] Chr9:121332701 [GRCh38]
Chr9:124094979 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.998G>T (p.Gly333Val) single nucleotide variant Meretoja syndrome [RCV001167767] Chr9:121318687 [GRCh38]
Chr9:124080965 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.440T>C (p.Val147Ala) single nucleotide variant Meretoja syndrome [RCV001167188] Chr9:121310772 [GRCh38]
Chr9:124073050 [GRCh37]
Chr9:9q33.2		 uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
NM_198252.3(GSN):c.1727C>G (p.Ala576Gly) single nucleotide variant GSN-related condition [RCV003963108]|Inborn genetic diseases [RCV002411660]|Meretoja syndrome [RCV001167841]|not provided [RCV002067824] Chr9:121327447 [GRCh38]
Chr9:124089725 [GRCh37]
Chr9:9q33.2		 benign|likely benign
NM_198252.3(GSN):c.509G>C (p.Gly170Ala) single nucleotide variant Meretoja syndrome [RCV001167189] Chr9:121310841 [GRCh38]
Chr9:124073119 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.886+12A>C single nucleotide variant Meretoja syndrome [RCV001167765]|not provided [RCV002558655] Chr9:121317230 [GRCh38]
Chr9:124079508 [GRCh37]
Chr9:9q33.2		 likely benign|uncertain significance
NM_198252.3(GSN):c.2060G>A (p.Arg687Gln) single nucleotide variant Meretoja syndrome [RCV001169718]|not provided [RCV002558691] Chr9:121332467 [GRCh38]
Chr9:124094745 [GRCh37]
Chr9:9q33.2		 likely benign|uncertain significance
NM_198252.3(GSN):c.*28G>A single nucleotide variant Meretoja syndrome [RCV001169720] Chr9:121332631 [GRCh38]
Chr9:124094909 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.126C>T (p.Asp42=) single nucleotide variant GSN-related condition [RCV003928765]|Meretoja syndrome [RCV001165600]|not provided [RCV002068006] Chr9:121302097 [GRCh38]
Chr9:124064375 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.-9-2039G>C single nucleotide variant not provided [RCV000914522] Chr9:121299924 [GRCh38]
Chr9:124062202 [GRCh37]
Chr9:9q33.2		 likely benign
GRCh37/hg19 9q33.2(chr9:124034075-124096249)x3 copy number gain not provided [RCV000849621] Chr9:124034075..124096249 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.592del (p.Asp198fs) deletion Inborn genetic diseases [RCV003249459] Chr9:121312415 [GRCh38]
Chr9:124074693 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1651G>A (p.Ala551Thr) single nucleotide variant Meretoja syndrome [RCV001167256]|not provided [RCV001873550] Chr9:121327371 [GRCh38]
Chr9:124089649 [GRCh37]
Chr9:9q33.2		 likely benign|uncertain significance
NM_198252.3(GSN):c.914A>G (p.Lys305Arg) single nucleotide variant Meretoja syndrome [RCV001167766] Chr9:121318433 [GRCh38]
Chr9:124080711 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.228G>A (p.Ala76=) single nucleotide variant Meretoja syndrome [RCV001165601]|not provided [RCV002068007] Chr9:121302942 [GRCh38]
Chr9:124065220 [GRCh37]
Chr9:9q33.2		 likely benign|uncertain significance
NM_198252.3(GSN):c.231C>A (p.Ala77=) single nucleotide variant Meretoja syndrome [RCV001165602]|not provided [RCV003769801] Chr9:121302945 [GRCh38]
Chr9:124065223 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.1585G>A (p.Glu529Lys) single nucleotide variant Meretoja syndrome [RCV001196370] Chr9:121326680 [GRCh38]
Chr9:124088958 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.-9-2101_-9-2095del deletion not provided [RCV003230009] Chr9:121299861..121299867 [GRCh38]
Chr9:124062139..124062145 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.-10+1155C>T single nucleotide variant not provided [RCV001648448] Chr9:121282717 [GRCh38]
Chr9:124044995 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.-10+4288C>T single nucleotide variant not provided [RCV001668853] Chr9:121285850 [GRCh38]
Chr9:124048128 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.753+28G>A single nucleotide variant not provided [RCV001654399] Chr9:121314051 [GRCh38]
Chr9:124076329 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.1588-77del deletion not provided [RCV001595512] Chr9:121327231 [GRCh38]
Chr9:124089509 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.1680C>T (p.Ser560=) single nucleotide variant Meretoja syndrome [RCV001167840]|not provided [RCV000909831] Chr9:121327400 [GRCh38]
Chr9:124089678 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.597C>T (p.Asn199=) single nucleotide variant GSN-related condition [RCV003905921]|Meretoja syndrome [RCV002505460]|not provided [RCV000967138] Chr9:121312422 [GRCh38]
Chr9:124074700 [GRCh37]
Chr9:9q33.2		 benign|likely benign
NM_198252.3(GSN):c.699C>T (p.Thr233=) single nucleotide variant not provided [RCV000915340] Chr9:121313969 [GRCh38]
Chr9:124076247 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.538A>G (p.Asn180Asp) single nucleotide variant Meretoja syndrome [RCV001167190]|not provided [RCV000961960] Chr9:121312363 [GRCh38]
Chr9:124074641 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.1423G>T (p.Val475Leu) single nucleotide variant Inborn genetic diseases [RCV002393377]|Meretoja syndrome [RCV001165663]|not provided [RCV002559587] Chr9:121326518 [GRCh38]
Chr9:124088796 [GRCh37]
Chr9:9q33.2		 benign|uncertain significance
NM_198252.3(GSN):c.427G>A (p.Gly143Arg) single nucleotide variant Inborn genetic diseases [RCV003246740]|Meretoja syndrome [RCV001167187]|not provided [RCV001873548] Chr9:121310759 [GRCh38]
Chr9:124073037 [GRCh37]
Chr9:9q33.2		 likely benign|uncertain significance
NM_198252.3(GSN):c.1657C>G (p.Leu553Val) single nucleotide variant Meretoja syndrome [RCV001167257] Chr9:121327377 [GRCh38]
Chr9:124089655 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.664-4A>G single nucleotide variant GSN-related condition [RCV003968122]|Meretoja syndrome [RCV001167763]|not provided [RCV000890781] Chr9:121313930 [GRCh38]
Chr9:124076208 [GRCh37]
Chr9:9q33.2		 benign|likely benign
NM_198252.3(GSN):c.1850G>T (p.Arg617Leu) single nucleotide variant GSN-related condition [RCV003930787]|Meretoja syndrome [RCV001167842]|not provided [RCV000890782] Chr9:121328978 [GRCh38]
Chr9:124091256 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.663+199G>C single nucleotide variant not provided [RCV001656185] Chr9:121312687 [GRCh38]
Chr9:124074965 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.-9-2339C>T single nucleotide variant not provided [RCV001620257] Chr9:121299624 [GRCh38]
Chr9:124061902 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.1588-76G>T single nucleotide variant not provided [RCV001655166] Chr9:121327232 [GRCh38]
Chr9:124089510 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.1416+108TCCA[10] microsatellite not provided [RCV001674770] Chr9:121324752..121324755 [GRCh38]
Chr9:124087030..124087033 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.664-196G>A single nucleotide variant not provided [RCV001639245] Chr9:121313738 [GRCh38]
Chr9:124076016 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.1192-75C>T single nucleotide variant not provided [RCV001620332] Chr9:121321193 [GRCh38]
Chr9:124083471 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.1587+46A>G single nucleotide variant not provided [RCV001596315] Chr9:121326728 [GRCh38]
Chr9:124089006 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.-9-2406C>T single nucleotide variant not provided [RCV001698688] Chr9:121299557 [GRCh38]
Chr9:124061835 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.-10+4621T>C single nucleotide variant not provided [RCV001676625] Chr9:121286183 [GRCh38]
Chr9:124048461 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.975+43G>C single nucleotide variant not provided [RCV001654626] Chr9:121318537 [GRCh38]
Chr9:124080815 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.-9-2026C>T single nucleotide variant Meretoja syndrome [RCV001169573]|not provided [RCV001859097] Chr9:121299937 [GRCh38]
Chr9:124062215 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.2045C>T (p.Thr682Met) single nucleotide variant Inborn genetic diseases [RCV002418599]|Meretoja syndrome [RCV001169717]|not provided [RCV002068044] Chr9:121332452 [GRCh38]
Chr9:124094730 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.2069G>A (p.Arg690Gln) single nucleotide variant Inborn genetic diseases [RCV002559627]|Meretoja syndrome [RCV001169719]|not provided [RCV001859099] Chr9:121332476 [GRCh38]
Chr9:124094754 [GRCh37]
Chr9:9q33.2		 benign|likely benign|uncertain significance
NM_198252.3(GSN):c.547C>T (p.Arg183Trp) single nucleotide variant Inborn genetic diseases [RCV002365818]|Meretoja syndrome [RCV001167762]|not provided [RCV002558654] Chr9:121312372 [GRCh38]
Chr9:124074650 [GRCh37]
Chr9:9q33.2		 benign|uncertain significance
NM_198252.3(GSN):c.1874T>C (p.Ile625Thr) single nucleotide variant Meretoja syndrome [RCV001167843] Chr9:121329002 [GRCh38]
Chr9:124091280 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.754-11C>T single nucleotide variant Meretoja syndrome [RCV001167764]|not provided [RCV002068028] Chr9:121317075 [GRCh38]
Chr9:124079353 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.1547A>G (p.Gln516Arg) single nucleotide variant Meretoja syndrome [RCV001167255] Chr9:121326642 [GRCh38]
Chr9:124088920 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1191+14G>A single nucleotide variant Meretoja syndrome [RCV001254008]|not provided [RCV002570551] Chr9:121318894 [GRCh38]
Chr9:124081172 [GRCh37]
Chr9:9q33.2		 benign|likely benign
NM_198252.3(GSN):c.1171G>A (p.Asp391Asn) single nucleotide variant Inborn genetic diseases [RCV002379957]|Meretoja syndrome [RCV001254007]|not provided [RCV001879877] Chr9:121318860 [GRCh38]
Chr9:124081138 [GRCh37]
Chr9:9q33.2		 benign|likely benign|uncertain significance
NM_198252.3(GSN):c.1192-1G>A single nucleotide variant Meretoja syndrome [RCV001333275] Chr9:121321267 [GRCh38]
Chr9:124083545 [GRCh37]
Chr9:9q33.2		 pathogenic
NM_198252.3(GSN):c.1324T>C (p.Trp442Arg) single nucleotide variant Meretoja syndrome [RCV001265608] Chr9:121321400 [GRCh38]
Chr9:124083678 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1382A>G (p.Gln461Arg) single nucleotide variant not provided [RCV001908079] Chr9:121324610 [GRCh38]
Chr9:124086888 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.-9-1836G>T single nucleotide variant not provided [RCV001529195] Chr9:121300127 [GRCh38]
Chr9:124062405 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.616C>T (p.Arg206Ter) single nucleotide variant Meretoja syndrome [RCV002488308]|not provided [RCV001508266] Chr9:121312441 [GRCh38]
Chr9:124074719 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.663+25T>G single nucleotide variant not provided [RCV001665069] Chr9:121312513 [GRCh38]
Chr9:124074791 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.514-197G>A single nucleotide variant not provided [RCV001534802] Chr9:121312142 [GRCh38]
Chr9:124074420 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.-9-2278G>A single nucleotide variant not provided [RCV001653380] Chr9:121299685 [GRCh38]
Chr9:124061963 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.2026+36T>C single nucleotide variant not provided [RCV001619472] Chr9:121331484 [GRCh38]
Chr9:124093762 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.1192-126G>A single nucleotide variant not provided [RCV001609409] Chr9:121321142 [GRCh38]
Chr9:124083420 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.-9-185C>G single nucleotide variant not provided [RCV001536908] Chr9:121301778 [GRCh38]
Chr9:124064056 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.-10+4781A>G single nucleotide variant not provided [RCV001710555] Chr9:121286343 [GRCh38]
Chr9:124048621 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.513+53T>C single nucleotide variant not provided [RCV001617410] Chr9:121310898 [GRCh38]
Chr9:124073176 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.2027-122A>T single nucleotide variant not provided [RCV001669455] Chr9:121332312 [GRCh38]
Chr9:124094590 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.1416+108TCCA[12] microsatellite not provided [RCV001665861] Chr9:121324751..121324752 [GRCh38]
Chr9:124087029..124087030 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.1116C>T (p.Asp372=) single nucleotide variant not provided [RCV003108326] Chr9:121318805 [GRCh38]
Chr9:124081083 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.997G>A (p.Gly333Ser) single nucleotide variant Inborn genetic diseases [RCV002343804]|Meretoja syndrome [RCV002488485]|not provided [RCV001727485] Chr9:121318686 [GRCh38]
Chr9:124080964 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.524A>G (p.Gln175Arg) single nucleotide variant not provided [RCV001763965] Chr9:121312349 [GRCh38]
Chr9:124074627 [GRCh37]
Chr9:9q33.2		 uncertain significance
GRCh37/hg19 9q33.1-33.2(chr9:117853848-124633077)x1 copy number loss Delayed speech and language development [RCV001801196] Chr9:117853848..124633077 [GRCh37]
Chr9:9q33.1-33.2		 uncertain significance
NM_198252.3(GSN):c.1423G>A (p.Val475Met) single nucleotide variant not provided [RCV001774580] Chr9:121326518 [GRCh38]
Chr9:124088796 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.614C>A (p.Ala205Asp) single nucleotide variant not provided [RCV001760910] Chr9:121312439 [GRCh38]
Chr9:124074717 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.-9-2077G>A single nucleotide variant not provided [RCV002542665]|not specified [RCV001822607] Chr9:121299886 [GRCh38]
Chr9:124062164 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.352-8C>A single nucleotide variant not specified [RCV001822630] Chr9:121310676 [GRCh38]
Chr9:124072954 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.776T>C (p.Met259Thr) single nucleotide variant Meretoja syndrome [RCV002507597]|not provided [RCV001929542] Chr9:121317108 [GRCh38]
Chr9:124079386 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.565G>T (p.Ala189Ser) single nucleotide variant not provided [RCV001895705] Chr9:121312390 [GRCh38]
Chr9:124074668 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.761A>G (p.Asn254Ser) single nucleotide variant Meretoja syndrome [RCV002492278]|not provided [RCV001988793] Chr9:121317093 [GRCh38]
Chr9:124079371 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.601_602insT (p.Arg201fs) insertion Inborn genetic diseases [RCV002388991]|not provided [RCV002003791]|not specified [RCV003331262] Chr9:121312426..121312427 [GRCh38]
Chr9:124074704..124074705 [GRCh37]
Chr9:9q33.2		 uncertain significance
GRCh37/hg19 9q33.1-33.3(chr9:120045175-127335905)x1 copy number loss not provided [RCV001834516] Chr9:120045175..127335905 [GRCh37]
Chr9:9q33.1-33.3		 pathogenic
NM_198252.3(GSN):c.2059C>T (p.Arg687Trp) single nucleotide variant not provided [RCV002041442] Chr9:121332466 [GRCh38]
Chr9:124094744 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.2158G>A (p.Asp720Asn) single nucleotide variant not provided [RCV001928480] Chr9:121332565 [GRCh38]
Chr9:124094843 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1275T>G (p.Ile425Met) single nucleotide variant not provided [RCV001889821] Chr9:121321351 [GRCh38]
Chr9:124083629 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1253A>G (p.Tyr418Cys) single nucleotide variant Inborn genetic diseases [RCV003167391]|not provided [RCV001987276] Chr9:121321329 [GRCh38]
Chr9:124083607 [GRCh37]
Chr9:9q33.2		 likely benign|uncertain significance
NM_198252.3(GSN):c.580A>G (p.Lys194Glu) single nucleotide variant not provided [RCV002008808] Chr9:121312405 [GRCh38]
Chr9:124074683 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.638G>A (p.Gly213Asp) single nucleotide variant Inborn genetic diseases [RCV002563422]|Meretoja syndrome [RCV002479540]|not provided [RCV001987444] Chr9:121312463 [GRCh38]
Chr9:124074741 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.162C>G (p.Asn54Lys) single nucleotide variant Meretoja syndrome [RCV002486641]|not provided [RCV002045254] Chr9:121302133 [GRCh38]
Chr9:124064411 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.286C>T (p.Arg96Cys) single nucleotide variant not provided [RCV001966089] Chr9:121303000 [GRCh38]
Chr9:124065278 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.513C>T (p.Asn171=) single nucleotide variant Inborn genetic diseases [RCV002361274]|Meretoja syndrome [RCV002484711]|not provided [RCV001967744] Chr9:121310845 [GRCh38]
Chr9:124073123 [GRCh37]
Chr9:9q33.2		 likely benign|uncertain significance
NM_198252.3(GSN):c.229G>A (p.Ala77Thr) single nucleotide variant not provided [RCV001983430] Chr9:121302943 [GRCh38]
Chr9:124065221 [GRCh37]
Chr9:9q33.2		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_198252.3(GSN):c.1697G>A (p.Gly566Glu) single nucleotide variant not provided [RCV001966271] Chr9:121327417 [GRCh38]
Chr9:124089695 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.-9-2058_-9-2047dup duplication Meretoja syndrome [RCV002492335]|not provided [RCV002004011] Chr9:121299897..121299898 [GRCh38]
Chr9:124062175..124062176 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.-9-2010C>T single nucleotide variant not provided [RCV002039763] Chr9:121299953 [GRCh38]
Chr9:124062231 [GRCh37]
Chr9:9q33.2		 uncertain significance
GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089) copy number loss not specified [RCV002052825] Chr9:104604851..126253089 [GRCh37]
Chr9:9q31.1-33.3		 pathogenic
NM_198252.3(GSN):c.1114G>A (p.Asp372Asn) single nucleotide variant not provided [RCV002042547] Chr9:121318803 [GRCh38]
Chr9:124081081 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1420C>T (p.Arg474Cys) single nucleotide variant Meretoja syndrome [RCV002478165]|not provided [RCV001947460] Chr9:121326515 [GRCh38]
Chr9:124088793 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.-9-2059T>C single nucleotide variant not provided [RCV002043495] Chr9:121299904 [GRCh38]
Chr9:124062182 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.-9-2057_-9-2037del deletion Meretoja syndrome [RCV002503582]|not provided [RCV001928181] Chr9:121299895..121299915 [GRCh38]
Chr9:124062173..124062193 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1762G>T (p.Asp588Tyr) single nucleotide variant Inborn genetic diseases [RCV002407240]|Meretoja syndrome [RCV002507753]|not provided [RCV002008224] Chr9:121327482 [GRCh38]
Chr9:124089760 [GRCh37]
Chr9:9q33.2		 likely benign|uncertain significance
NM_198252.3(GSN):c.790G>A (p.Val264Met) single nucleotide variant not provided [RCV001892943] Chr9:121317122 [GRCh38]
Chr9:124079400 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1886T>C (p.Val629Ala) single nucleotide variant Inborn genetic diseases [RCV002422982]|not provided [RCV001911211] Chr9:121329014 [GRCh38]
Chr9:124091292 [GRCh37]
Chr9:9q33.2		 likely benign|uncertain significance
NM_198252.3(GSN):c.767C>G (p.Ala256Gly) single nucleotide variant not provided [RCV001945647] Chr9:121317099 [GRCh38]
Chr9:124079377 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.480C>A (p.Asn160Lys) single nucleotide variant not provided [RCV001949252] Chr9:121310812 [GRCh38]
Chr9:124073090 [GRCh37]
Chr9:9q33.2		 pathogenic
NM_198252.3(GSN):c.397G>T (p.Val133Leu) single nucleotide variant Inborn genetic diseases [RCV002344024]|Meretoja syndrome [RCV002490276]|not provided [RCV001928371] Chr9:121310729 [GRCh38]
Chr9:124073007 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1103G>A (p.Arg368Gln) single nucleotide variant Inborn genetic diseases [RCV002423235]|Meretoja syndrome [RCV002486645]|not provided [RCV002022738] Chr9:121318792 [GRCh38]
Chr9:124081070 [GRCh37]
Chr9:9q33.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_198252.3(GSN):c.709G>A (p.Ala237Thr) single nucleotide variant Inborn genetic diseases [RCV002370440]|not provided [RCV001890732] Chr9:121313979 [GRCh38]
Chr9:124076257 [GRCh37]
Chr9:9q33.2		 likely benign|uncertain significance
NM_198252.3(GSN):c.1049A>G (p.Gln350Arg) single nucleotide variant not provided [RCV001965512] Chr9:121318738 [GRCh38]
Chr9:124081016 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1939G>A (p.Val647Ile) single nucleotide variant Inborn genetic diseases [RCV002423259]|Meretoja syndrome [RCV002479783]|not provided [RCV002023079] Chr9:121329289 [GRCh38]
Chr9:124091567 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1512C>T (p.Gly504=) single nucleotide variant not provided [RCV001911989] Chr9:121326607 [GRCh38]
Chr9:124088885 [GRCh37]
Chr9:9q33.2		 likely benign|uncertain significance
NM_198252.3(GSN):c.434G>A (p.Arg145His) single nucleotide variant Inborn genetic diseases [RCV002352623]|not provided [RCV001967735] Chr9:121310766 [GRCh38]
Chr9:124073044 [GRCh37]
Chr9:9q33.2		 likely benign|uncertain significance
GRCh37/hg19 9q32-34.11(chr9:116422275-131713233) copy number gain not specified [RCV002052831] Chr9:116422275..131713233 [GRCh37]
Chr9:9q32-34.11		 pathogenic
NM_198252.3(GSN):c.1506C>T (p.Arg502=) single nucleotide variant GSN-related condition [RCV003911048]|Meretoja syndrome [RCV002482400]|not provided [RCV002041380] Chr9:121326601 [GRCh38]
Chr9:124088879 [GRCh37]
Chr9:9q33.2		 likely benign|uncertain significance
NM_198252.3(GSN):c.-9-1983C>T single nucleotide variant Inborn genetic diseases [RCV002344050]|not provided [RCV001943858] Chr9:121299980 [GRCh38]
Chr9:124062258 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.454G>T (p.Val152Leu) single nucleotide variant Inborn genetic diseases [RCV003289404]|not provided [RCV002030923] Chr9:121310786 [GRCh38]
Chr9:124073064 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.692C>T (p.Ala231Val) single nucleotide variant Meretoja syndrome [RCV002489956]|not provided [RCV001887712] Chr9:121313962 [GRCh38]
Chr9:124076240 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.513+1G>A single nucleotide variant Meretoja syndrome [RCV002490025]|not provided [RCV001942763] Chr9:121310846 [GRCh38]
Chr9:124073124 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1444G>A (p.Ala482Thr) single nucleotide variant Inborn genetic diseases [RCV002397804]|Meretoja syndrome [RCV002490026]|not provided [RCV001942791] Chr9:121326539 [GRCh38]
Chr9:124088817 [GRCh37]
Chr9:9q33.2		 likely benign|uncertain significance
NM_198252.3(GSN):c.76G>A (p.Asp26Asn) single nucleotide variant Inborn genetic diseases [RCV002563451]|not provided [RCV001992678] Chr9:121302047 [GRCh38]
Chr9:124064325 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.-9-2046G>A single nucleotide variant not provided [RCV001905531] Chr9:121299917 [GRCh38]
Chr9:124062195 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1915C>T (p.Gln639Ter) single nucleotide variant Meretoja syndrome [RCV002506867]|not provided [RCV002037191] Chr9:121329265 [GRCh38]
Chr9:124091543 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.272G>A (p.Arg91Gln) single nucleotide variant Inborn genetic diseases [RCV002331624]|Meretoja syndrome [RCV002492369]|not provided [RCV002026059] Chr9:121302986 [GRCh38]
Chr9:124065264 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.-2G>A single nucleotide variant not provided [RCV001975999] Chr9:121301970 [GRCh38]
Chr9:124064248 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.856G>A (p.Gly286Ser) single nucleotide variant Inborn genetic diseases [RCV002657672]|Meretoja syndrome [RCV002492322]|not provided [RCV002020059] Chr9:121317188 [GRCh38]
Chr9:124079466 [GRCh37]
Chr9:9q33.2		 likely benign|uncertain significance
NM_198252.3(GSN):c.1996GAA[2] (p.Glu668del) microsatellite not provided [RCV002009951] Chr9:121331416..121331418 [GRCh38]
Chr9:124093694..124093696 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.397G>A (p.Val133Met) single nucleotide variant Inborn genetic diseases [RCV002343999]|Meretoja syndrome [RCV002490214]|not provided [RCV001898733] Chr9:121310729 [GRCh38]
Chr9:124073007 [GRCh37]
Chr9:9q33.2		 likely benign|uncertain significance
NM_198252.3(GSN):c.-9-1990G>T single nucleotide variant not provided [RCV001990846] Chr9:121299973 [GRCh38]
Chr9:124062251 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.18del (p.Glu7fs) deletion Inborn genetic diseases [RCV002406935]|not provided [RCV001867173] Chr9:121301986 [GRCh38]
Chr9:124064264 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1879C>T (p.Arg627Cys) single nucleotide variant not provided [RCV002014358] Chr9:121329007 [GRCh38]
Chr9:124091285 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.235A>C (p.Ile79Leu) single nucleotide variant Inborn genetic diseases [RCV002361416]|Meretoja syndrome [RCV002479827]|not provided [RCV002031488] Chr9:121302949 [GRCh38]
Chr9:124065227 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.244G>A (p.Val82Met) single nucleotide variant not provided [RCV001870575] Chr9:121302958 [GRCh38]
Chr9:124065236 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.2041G>A (p.Glu681Lys) single nucleotide variant Inborn genetic diseases [RCV002425114]|Meretoja syndrome [RCV002482462]|not provided [RCV001876394] Chr9:121332448 [GRCh38]
Chr9:124094726 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.382G>C (p.Val128Leu) single nucleotide variant not provided [RCV001877993] Chr9:121310714 [GRCh38]
Chr9:124072992 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1888-4C>G single nucleotide variant not provided [RCV001994603] Chr9:121329234 [GRCh38]
Chr9:124091512 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1417A>G (p.Ser473Gly) single nucleotide variant Meretoja syndrome [RCV002482455]|not provided [RCV001866446] Chr9:121326512 [GRCh38]
Chr9:124088790 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.-9-1999_-9-1985del deletion Inborn genetic diseases [RCV002386611]|Meretoja syndrome [RCV002478132]|not provided [RCV001904078] Chr9:121299957..121299971 [GRCh38]
Chr9:124062235..124062249 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.811G>A (p.Ala271Thr) single nucleotide variant Meretoja syndrome [RCV002482686]|not provided [RCV001875508] Chr9:121317143 [GRCh38]
Chr9:124079421 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.804C>A (p.Asn268Lys) single nucleotide variant not provided [RCV001934608] Chr9:121317136 [GRCh38]
Chr9:124079414 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1325+4A>G single nucleotide variant not provided [RCV001900159] Chr9:121321405 [GRCh38]
Chr9:124083683 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.-9-2079_-9-2035del deletion Inborn genetic diseases [RCV002425119]|not provided [RCV001870103] Chr9:121299881..121299925 [GRCh38]
Chr9:124062159..124062203 [GRCh37]
Chr9:9q33.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_198252.3(GSN):c.1240T>C (p.Tyr414His) single nucleotide variant not provided [RCV001955303] Chr9:121321316 [GRCh38]
Chr9:124083594 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.827A>G (p.Lys276Arg) single nucleotide variant not provided [RCV002026687] Chr9:121317159 [GRCh38]
Chr9:124079437 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.743A>T (p.Lys248Met) single nucleotide variant not provided [RCV001978441] Chr9:121314013 [GRCh38]
Chr9:124076291 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1441C>A (p.Pro481Thr) single nucleotide variant Meretoja syndrome [RCV002503578]|not provided [RCV001923231] Chr9:121326536 [GRCh38]
Chr9:124088814 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.-9-2057_-9-2037dup duplication Inborn genetic diseases [RCV002331512]|Meretoja syndrome [RCV002497842]|not provided [RCV001958440] Chr9:121299894..121299895 [GRCh38]
Chr9:124062172..124062173 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.2137del (p.Asp713fs) deletion Meretoja syndrome [RCV002490081]|not provided [RCV001883190] Chr9:121332542 [GRCh38]
Chr9:124094820 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1300C>T (p.Arg434Cys) single nucleotide variant Inborn genetic diseases [RCV003264216]|not provided [RCV001935008] Chr9:121321376 [GRCh38]
Chr9:124083654 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.602G>A (p.Arg201Gln) single nucleotide variant Meretoja syndrome [RCV002492348]|not provided [RCV002016213] Chr9:121312427 [GRCh38]
Chr9:124074705 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.2065C>T (p.Arg689Trp) single nucleotide variant Meretoja syndrome [RCV002492055]|not provided [RCV001960334] Chr9:121332472 [GRCh38]
Chr9:124094750 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.700G>A (p.Glu234Lys) single nucleotide variant Inborn genetic diseases [RCV002449566]|not provided [RCV001906993] Chr9:121313970 [GRCh38]
Chr9:124076248 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1295G>C (p.Gly432Ala) single nucleotide variant not provided [RCV001951960] Chr9:121321371 [GRCh38]
Chr9:124083649 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1662G>A (p.Trp554Ter) single nucleotide variant not provided [RCV002033781] Chr9:121327382 [GRCh38]
Chr9:124089660 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1690A>G (p.Lys564Glu) single nucleotide variant Meretoja syndrome [RCV002479644]|not provided [RCV002018941] Chr9:121327410 [GRCh38]
Chr9:124089688 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1850G>A (p.Arg617His) single nucleotide variant Meretoja syndrome [RCV002484621]|not provided [RCV001931420] Chr9:121328978 [GRCh38]
Chr9:124091256 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.62G>A (p.Arg21His) single nucleotide variant Inborn genetic diseases [RCV002425206]|not provided [RCV001918113] Chr9:121302033 [GRCh38]
Chr9:124064311 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1870A>G (p.Lys624Glu) single nucleotide variant Meretoja syndrome [RCV002484788]|not provided [RCV001990094]|not specified [RCV003226508] Chr9:121328998 [GRCh38]
Chr9:124091276 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.731G>A (p.Arg244His) single nucleotide variant not provided [RCV002015445] Chr9:121314001 [GRCh38]
Chr9:124076279 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1204G>A (p.Glu402Lys) single nucleotide variant Inborn genetic diseases [RCV002386588]|Meretoja syndrome [RCV002489911]|not provided [RCV002029848] Chr9:121321280 [GRCh38]
Chr9:124083558 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.2032C>T (p.Arg678Trp) single nucleotide variant Inborn genetic diseases [RCV002425224]|not provided [RCV001918388] Chr9:121332439 [GRCh38]
Chr9:124094717 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1576C>T (p.Arg526Trp) single nucleotide variant Meretoja syndrome [RCV002490171]|not provided [RCV001903197] Chr9:121326671 [GRCh38]
Chr9:124088949 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1191+5G>A single nucleotide variant not provided [RCV002017346] Chr9:121318885 [GRCh38]
Chr9:124081163 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.417C>G (p.Phe139Leu) single nucleotide variant not provided [RCV001897326] Chr9:121310749 [GRCh38]
Chr9:124073027 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.394G>A (p.Glu132Lys) single nucleotide variant Inborn genetic diseases [RCV002675471]|not provided [RCV002029147] Chr9:121310726 [GRCh38]
Chr9:124073004 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.352-10G>C single nucleotide variant not provided [RCV001880815] Chr9:121310674 [GRCh38]
Chr9:124072952 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1190A>G (p.Gln397Arg) single nucleotide variant Inborn genetic diseases [RCV002386803]|Meretoja syndrome [RCV002484769]|not provided [RCV001996958] Chr9:121318879 [GRCh38]
Chr9:124081157 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1880G>A (p.Arg627His) single nucleotide variant Inborn genetic diseases [RCV002423285]|Meretoja syndrome [RCV002492401]|not provided [RCV002031375] Chr9:121329008 [GRCh38]
Chr9:124091286 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.484G>A (p.Gly162Ser) single nucleotide variant Meretoja syndrome [RCV002492099]|not provided [RCV001989851] Chr9:121310816 [GRCh38]
Chr9:124073094 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1538G>A (p.Arg513His) single nucleotide variant Inborn genetic diseases [RCV002397935]|Meretoja syndrome [RCV002484617]|not provided [RCV001938852] Chr9:121326633 [GRCh38]
Chr9:124088911 [GRCh37]
Chr9:9q33.2		 likely benign|uncertain significance
NM_198252.3(GSN):c.1534A>C (p.Thr512Pro) single nucleotide variant not provided [RCV001998838] Chr9:121326629 [GRCh38]
Chr9:124088907 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1004C>G (p.Thr335Ser) single nucleotide variant not provided [RCV001905521] Chr9:121318693 [GRCh38]
Chr9:124080971 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1546del (p.Gln516fs) deletion not provided [RCV001924684] Chr9:121326640 [GRCh38]
Chr9:124088918 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1763-7C>G single nucleotide variant not provided [RCV001915717] Chr9:121328884 [GRCh38]
Chr9:124091162 [GRCh37]
Chr9:9q33.2		 likely benign|uncertain significance
NM_198252.3(GSN):c.1814G>A (p.Arg605Gln) single nucleotide variant not provided [RCV001955479] Chr9:121328942 [GRCh38]
Chr9:124091220 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1283A>G (p.Asn428Ser) single nucleotide variant not provided [RCV002033041] Chr9:121321359 [GRCh38]
Chr9:124083637 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.581A>G (p.Lys194Arg) single nucleotide variant not provided [RCV001879086] Chr9:121312406 [GRCh38]
Chr9:124074684 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.322G>A (p.Gly108Ser) single nucleotide variant Meretoja syndrome [RCV002484901]|not provided [RCV001973981] Chr9:121303036 [GRCh38]
Chr9:124065314 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1054G>C (p.Asp352His) single nucleotide variant not provided [RCV001991883] Chr9:121318743 [GRCh38]
Chr9:124081021 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.-9-1987G>A single nucleotide variant Inborn genetic diseases [RCV002370371]|not provided [RCV001880307] Chr9:121299976 [GRCh38]
Chr9:124062254 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.722C>T (p.Ala241Val) single nucleotide variant Inborn genetic diseases [RCV002370464]|not provided [RCV001898475] Chr9:121313992 [GRCh38]
Chr9:124076270 [GRCh37]
Chr9:9q33.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_198252.3(GSN):c.1096G>A (p.Val366Met) single nucleotide variant Inborn genetic diseases [RCV002397844]|Meretoja syndrome [RCV002482682]|not provided [RCV001881581] Chr9:121318785 [GRCh38]
Chr9:124081063 [GRCh37]
Chr9:9q33.2		 likely benign|uncertain significance
NM_198252.3(GSN):c.1310A>G (p.Gln437Arg) single nucleotide variant not provided [RCV001977814] Chr9:121321386 [GRCh38]
Chr9:124083664 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.754-1G>T single nucleotide variant not provided [RCV001955959] Chr9:121317085 [GRCh38]
Chr9:124079363 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.989C>T (p.Pro330Leu) single nucleotide variant Meretoja syndrome [RCV002490071]|not provided [RCV001900247] Chr9:121318678 [GRCh38]
Chr9:124080956 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.-9-2043C>G single nucleotide variant Meretoja syndrome [RCV002482426]|not provided [RCV002050998] Chr9:121299920 [GRCh38]
Chr9:124062198 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1366_1369dup (p.Ile457fs) duplication not provided [RCV002047467] Chr9:121324593..121324594 [GRCh38]
Chr9:124086871..124086872 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.753+1G>A single nucleotide variant Inborn genetic diseases [RCV002370360]|Meretoja syndrome [RCV002489927]|not provided [RCV002051081]|not specified [RCV002307768] Chr9:121314024 [GRCh38]
Chr9:124076302 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1515G>A (p.Gly505=) single nucleotide variant not provided [RCV002108419] Chr9:121326610 [GRCh38]
Chr9:124088888 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.197-20A>G single nucleotide variant not provided [RCV002127544] Chr9:121302891 [GRCh38]
Chr9:124065169 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.75C>T (p.Phe25=) single nucleotide variant not provided [RCV002204993] Chr9:121302046 [GRCh38]
Chr9:124064324 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.886+10A>G single nucleotide variant Meretoja syndrome [RCV002498180]|not provided [RCV002189876] Chr9:121317228 [GRCh38]
Chr9:124079506 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.-7C>G single nucleotide variant not provided [RCV002210065] Chr9:121301965 [GRCh38]
Chr9:124064243 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.285C>T (p.His95=) single nucleotide variant Meretoja syndrome [RCV002500097]|not provided [RCV002147871] Chr9:121302999 [GRCh38]
Chr9:124065277 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1416+16C>T single nucleotide variant Meretoja syndrome [RCV002494264]|not provided [RCV002129502] Chr9:121324660 [GRCh38]
Chr9:124086938 [GRCh37]
Chr9:9q33.2		 benign|likely benign
NM_198252.3(GSN):c.886+19G>T single nucleotide variant Meretoja syndrome [RCV002498176]|not provided [RCV002187546] Chr9:121317237 [GRCh38]
Chr9:124079515 [GRCh37]
Chr9:9q33.2		 benign|likely benign
NM_198252.3(GSN):c.303C>T (p.Phe101=) single nucleotide variant Meretoja syndrome [RCV002500155]|not provided [RCV002108823] Chr9:121303017 [GRCh38]
Chr9:124065295 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1637A>G (p.Lys546Arg) single nucleotide variant Meretoja syndrome [RCV002498155]|not provided [RCV002186915] Chr9:121327357 [GRCh38]
Chr9:124089635 [GRCh37]
Chr9:9q33.2		 benign|likely benign
NM_198252.3(GSN):c.754-8C>T single nucleotide variant Meretoja syndrome [RCV002507885]|not provided [RCV002189706] Chr9:121317078 [GRCh38]
Chr9:124079356 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.132C>T (p.Tyr44=) single nucleotide variant not provided [RCV002108410] Chr9:121302103 [GRCh38]
Chr9:124064381 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.887-18T>A single nucleotide variant not provided [RCV002126180] Chr9:121318388 [GRCh38]
Chr9:124080666 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.754-10del deletion not provided [RCV002167661] Chr9:121317076 [GRCh38]
Chr9:124079354 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1572C>T (p.Ala524=) single nucleotide variant not provided [RCV002167742] Chr9:121326667 [GRCh38]
Chr9:124088945 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.2082C>T (p.Thr694=) single nucleotide variant Meretoja syndrome [RCV002507930]|not provided [RCV002073604] Chr9:121332489 [GRCh38]
Chr9:124094767 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.-9-1991G>A single nucleotide variant not provided [RCV002076546] Chr9:121299972 [GRCh38]
Chr9:124062250 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.352-15T>G single nucleotide variant not provided [RCV002080306] Chr9:121310669 [GRCh38]
Chr9:124072947 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1665G>A (p.Val555=) single nucleotide variant not provided [RCV002091345] Chr9:121327385 [GRCh38]
Chr9:124089663 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1577G>T (p.Arg526Leu) single nucleotide variant not provided [RCV002193047] Chr9:121326672 [GRCh38]
Chr9:124088950 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1762+20del deletion Meretoja syndrome [RCV002494336]|not provided [RCV002079210] Chr9:121327497 [GRCh38]
Chr9:124089775 [GRCh37]
Chr9:9q33.2		 benign|likely benign
NM_198252.3(GSN):c.351+16C>T single nucleotide variant not provided [RCV002169683] Chr9:121303081 [GRCh38]
Chr9:124065359 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1338G>A (p.Gln446=) single nucleotide variant not provided [RCV002171642] Chr9:121324566 [GRCh38]
Chr9:124086844 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1763-8C>T single nucleotide variant not provided [RCV002078162] Chr9:121328883 [GRCh38]
Chr9:124091161 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1762+11G>A single nucleotide variant not provided [RCV002115774] Chr9:121327493 [GRCh38]
Chr9:124089771 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.1485C>T (p.Ile495=) single nucleotide variant GSN-related condition [RCV003958699]|Meretoja syndrome [RCV002494238]|not provided [RCV002105644]|not specified [RCV003151386] Chr9:121326580 [GRCh38]
Chr9:124088858 [GRCh37]
Chr9:9q33.2		 benign|likely benign
NM_198252.3(GSN):c.186C>T (p.His62=) single nucleotide variant Meretoja syndrome [RCV002500085]|not provided [RCV002152275] Chr9:121302157 [GRCh38]
Chr9:124064435 [GRCh37]
Chr9:9q33.2		 benign|likely benign
NM_198252.3(GSN):c.1416+14A>G single nucleotide variant not provided [RCV002133738] Chr9:121324658 [GRCh38]
Chr9:124086936 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.947C>A (p.Thr316Asn) single nucleotide variant not provided [RCV002097470] Chr9:121318466 [GRCh38]
Chr9:124080744 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.18C>T (p.Pro6=) single nucleotide variant not provided [RCV002191019] Chr9:121301989 [GRCh38]
Chr9:124064267 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.876T>C (p.Phe292=) single nucleotide variant not provided [RCV002187020] Chr9:121317208 [GRCh38]
Chr9:124079486 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.431G>A (p.Arg144Gln) single nucleotide variant Inborn genetic diseases [RCV002352789]|Meretoja syndrome [RCV002507872]|not provided [RCV002170312] Chr9:121310763 [GRCh38]
Chr9:124073041 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1417-20C>T single nucleotide variant not provided [RCV002193099] Chr9:121326492 [GRCh38]
Chr9:124088770 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.15C>T (p.His5=) single nucleotide variant not provided [RCV002194721] Chr9:121301986 [GRCh38]
Chr9:124064264 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.450C>T (p.Thr150=) single nucleotide variant not provided [RCV002191453] Chr9:121310782 [GRCh38]
Chr9:124073060 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.231C>T (p.Ala77=) single nucleotide variant not provided [RCV002115607] Chr9:121302945 [GRCh38]
Chr9:124065223 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.-9-2009G>A single nucleotide variant not provided [RCV002079616] Chr9:121299954 [GRCh38]
Chr9:124062232 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1588-5C>T single nucleotide variant not provided [RCV002076588] Chr9:121327303 [GRCh38]
Chr9:124089581 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.886+19G>A single nucleotide variant Meretoja syndrome [RCV002505866]|not provided [RCV002189025] Chr9:121317237 [GRCh38]
Chr9:124079515 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.2026+23del deletion not provided [RCV002080545] Chr9:121331467 [GRCh38]
Chr9:124093745 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.2026+19G>A single nucleotide variant not provided [RCV002210687] Chr9:121331467 [GRCh38]
Chr9:124093745 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.127G>T (p.Ala43Ser) single nucleotide variant Inborn genetic diseases [RCV002441243]|not provided [RCV002077959] Chr9:121302098 [GRCh38]
Chr9:124064376 [GRCh37]
Chr9:9q33.2		 benign|likely benign
NM_198252.3(GSN):c.681G>A (p.Pro227=) single nucleotide variant not provided [RCV002152590] Chr9:121313951 [GRCh38]
Chr9:124076229 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.886+17A>G single nucleotide variant not provided [RCV002207518] Chr9:121317235 [GRCh38]
Chr9:124079513 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1762+19G>A single nucleotide variant Meretoja syndrome [RCV002500259]|not provided [RCV002134067] Chr9:121327501 [GRCh38]
Chr9:124089779 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.-9-2000G>T single nucleotide variant not provided [RCV002116142]|not specified [RCV003151387] Chr9:121299963 [GRCh38]
Chr9:124062241 [GRCh37]
Chr9:9q33.2		 benign|likely benign
NM_198252.3(GSN):c.90G>T (p.Val30=) single nucleotide variant not provided [RCV002077394] Chr9:121302061 [GRCh38]
Chr9:124064339 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.663+16G>A single nucleotide variant not provided [RCV002179023] Chr9:121312504 [GRCh38]
Chr9:124074782 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1763-7C>T single nucleotide variant not provided [RCV002175427] Chr9:121328884 [GRCh38]
Chr9:124091162 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.489C>T (p.Asp163=) single nucleotide variant not provided [RCV002197969] Chr9:121310821 [GRCh38]
Chr9:124073099 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.886+11C>T single nucleotide variant not provided [RCV002177331] Chr9:121317229 [GRCh38]
Chr9:124079507 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.654G>C (p.Ala218=) single nucleotide variant not provided [RCV002202016] Chr9:121312479 [GRCh38]
Chr9:124074757 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1101G>A (p.Glu367=) single nucleotide variant not provided [RCV002100554] Chr9:121318790 [GRCh38]
Chr9:124081068 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.624C>T (p.His208=) single nucleotide variant not provided [RCV002140025] Chr9:121312449 [GRCh38]
Chr9:124074727 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.177T>C (p.Tyr59=) single nucleotide variant not provided [RCV002176387] Chr9:121302148 [GRCh38]
Chr9:124064426 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.-9-1944G>A single nucleotide variant not provided [RCV002182076] Chr9:121300019 [GRCh38]
Chr9:124062297 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1191+7T>C single nucleotide variant not provided [RCV002202464] Chr9:121318887 [GRCh38]
Chr9:124081165 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.-9-2012G>A single nucleotide variant not provided [RCV002200772] Chr9:121299951 [GRCh38]
Chr9:124062229 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1325+14G>A single nucleotide variant Meretoja syndrome [RCV002505811]|not provided [RCV002138777] Chr9:121321415 [GRCh38]
Chr9:124083693 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.27C>T (p.Leu9=) single nucleotide variant not provided [RCV002176912] Chr9:121301998 [GRCh38]
Chr9:124064276 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1416+17G>A single nucleotide variant Meretoja syndrome [RCV002500442]|not provided [RCV002204324] Chr9:121324661 [GRCh38]
Chr9:124086939 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.-9-1943G>A single nucleotide variant Meretoja syndrome [RCV002486976]|not provided [RCV002163829] Chr9:121300020 [GRCh38]
Chr9:124062298 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1965+13C>A single nucleotide variant not provided [RCV002164022] Chr9:121329328 [GRCh38]
Chr9:124091606 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.654G>A (p.Ala218=) single nucleotide variant not provided [RCV002164293] Chr9:121312479 [GRCh38]
Chr9:124074757 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.180C>T (p.Asp60=) single nucleotide variant not provided [RCV002203051] Chr9:121302151 [GRCh38]
Chr9:124064429 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.513+19T>C single nucleotide variant Meretoja syndrome [RCV002507981]|not provided [RCV002119578] Chr9:121310864 [GRCh38]
Chr9:124073142 [GRCh37]
Chr9:9q33.2		 benign|likely benign
NM_198252.3(GSN):c.-9-1942G>A single nucleotide variant Meretoja syndrome [RCV002486911]|not provided [RCV002137422] Chr9:121300021 [GRCh38]
Chr9:124062299 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.-9-1951G>T single nucleotide variant Meretoja syndrome [RCV002500080]|not provided [RCV002137425] Chr9:121300012 [GRCh38]
Chr9:124062290 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.-7C>T single nucleotide variant not provided [RCV002081743] Chr9:121301965 [GRCh38]
Chr9:124064243 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1888-12G>A single nucleotide variant not provided [RCV002102256] Chr9:121329226 [GRCh38]
Chr9:124091504 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.197-7C>T single nucleotide variant GSN-related condition [RCV003958794]|not provided [RCV002139627] Chr9:121302904 [GRCh38]
Chr9:124065182 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.741C>T (p.Ala247=) single nucleotide variant Meretoja syndrome [RCV002494259]|not provided [RCV002120149] Chr9:121314011 [GRCh38]
Chr9:124076289 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.-9-14C>G single nucleotide variant not provided [RCV002138047] Chr9:121301949 [GRCh38]
Chr9:124064227 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1158C>T (p.His386=) single nucleotide variant not provided [RCV002104108] Chr9:121318847 [GRCh38]
Chr9:124081125 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.-9-2084C>G single nucleotide variant not provided [RCV002162192] Chr9:121299879 [GRCh38]
Chr9:124062157 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.267C>T (p.Asn89=) single nucleotide variant not provided [RCV002177397] Chr9:121302981 [GRCh38]
Chr9:124065259 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.2040C>T (p.Ile680=) single nucleotide variant GSN-related condition [RCV003933387]|Meretoja syndrome [RCV002498328]|not provided [RCV002100031] Chr9:121332447 [GRCh38]
Chr9:124094725 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1044A>G (p.Pro348=) single nucleotide variant not provided [RCV002161842] Chr9:121318733 [GRCh38]
Chr9:124081011 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1887+11G>T single nucleotide variant Meretoja syndrome [RCV002486856]|not provided [RCV002083763] Chr9:121329026 [GRCh38]
Chr9:124091304 [GRCh37]
Chr9:9q33.2		 benign|likely benign
NM_198252.3(GSN):c.1932G>A (p.Thr644=) single nucleotide variant Meretoja syndrome [RCV002508017]|not provided [RCV002117891] Chr9:121329282 [GRCh38]
Chr9:124091560 [GRCh37]
Chr9:9q33.2		 benign|likely benign
NM_198252.3(GSN):c.197-4G>A single nucleotide variant Inborn genetic diseases [RCV002337185]|Meretoja syndrome [RCV002498121]|not provided [RCV002162160] Chr9:121302907 [GRCh38]
Chr9:124065185 [GRCh37]
Chr9:9q33.2		 benign|likely benign
NM_198252.3(GSN):c.1762+19_1762+20del deletion not provided [RCV002175748] Chr9:121327497..121327498 [GRCh38]
Chr9:124089775..124089776 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1650C>T (p.Ala550=) single nucleotide variant not provided [RCV002178037] Chr9:121327370 [GRCh38]
Chr9:124089648 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.-9-2084C>T single nucleotide variant not provided [RCV002198863] Chr9:121299879 [GRCh38]
Chr9:124062157 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1763-10C>T single nucleotide variant Meretoja syndrome [RCV002500139]|not provided [RCV002099253] Chr9:121328881 [GRCh38]
Chr9:124091159 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.420G>A (p.Gln140=) single nucleotide variant not provided [RCV002142536] Chr9:121310752 [GRCh38]
Chr9:124073030 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.2159A>C (p.Asp720Ala) single nucleotide variant not provided [RCV003110507] Chr9:121332566 [GRCh38]
Chr9:124094844 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.241A>G (p.Thr81Ala) single nucleotide variant not provided [RCV003116841] Chr9:121302955 [GRCh38]
Chr9:124065233 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.171G>A (p.Leu57=) single nucleotide variant not provided [RCV003115269] Chr9:121302142 [GRCh38]
Chr9:124064420 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1811C>T (p.Pro604Leu) single nucleotide variant not provided [RCV003114919] Chr9:121328939 [GRCh38]
Chr9:124091217 [GRCh37]
Chr9:9q33.2		 uncertain significance
NC_000009.11:g.(?_124062140)_(124091613_?)del deletion not provided [RCV003122131] Chr9:124062140..124091613 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.514-126G>A single nucleotide variant not provided [RCV002263513] Chr9:121312213 [GRCh38]
Chr9:124074491 [GRCh37]
Chr9:9q33.2		 benign|likely benign
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
NM_198252.3(GSN):c.590G>A (p.Arg197Gln) single nucleotide variant Inborn genetic diseases [RCV002385066]|not provided [RCV003099637] Chr9:121312415 [GRCh38]
Chr9:124074693 [GRCh37]
Chr9:9q33.2		 likely benign|uncertain significance
NM_198252.3(GSN):c.820G>A (p.Ala274Thr) single nucleotide variant Inborn genetic diseases [RCV002387077] Chr9:121317152 [GRCh38]
Chr9:124079430 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1180G>A (p.Gly394Ser) single nucleotide variant Inborn genetic diseases [RCV002387545]|not provided [RCV003094982] Chr9:121318869 [GRCh38]
Chr9:124081147 [GRCh37]
Chr9:9q33.2		 likely benign|uncertain significance
NM_198252.3(GSN):c.1802G>A (p.Arg601His) single nucleotide variant Inborn genetic diseases [RCV002421605]|not provided [RCV003100957] Chr9:121328930 [GRCh38]
Chr9:124091208 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1159G>A (p.Gly387Ser) single nucleotide variant Inborn genetic diseases [RCV002385484]|not provided [RCV003774253] Chr9:121318848 [GRCh38]
Chr9:124081126 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1160del (p.Gly387fs) deletion Inborn genetic diseases [RCV002385505]|not provided [RCV003094956] Chr9:121318848 [GRCh38]
Chr9:124081126 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.589C>T (p.Arg197Trp) single nucleotide variant Inborn genetic diseases [RCV002385012]|not provided [RCV003103399] Chr9:121312414 [GRCh38]
Chr9:124074692 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1267T>C (p.Tyr423His) single nucleotide variant Meretoja syndrome [RCV003138161] Chr9:121321343 [GRCh38]
Chr9:124083621 [GRCh37]
Chr9:9q33.2		 pathogenic
GRCh37/hg19 9q33.2(chr9:124024959-124157971)x1 copy number loss not provided [RCV002473549] Chr9:124024959..124157971 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1711C>G (p.Leu571Val) single nucleotide variant Inborn genetic diseases [RCV002414969] Chr9:121327431 [GRCh38]
Chr9:124089709 [GRCh37]
Chr9:9q33.2		 uncertain significance
GRCh37/hg19 9q33.2-33.3(chr9:124018736-129995568)x1 copy number loss not provided [RCV002474540] Chr9:124018736..129995568 [GRCh37]
Chr9:9q33.2-33.3		 pathogenic
NM_198252.3(GSN):c.1965+4G>A single nucleotide variant Inborn genetic diseases [RCV002417565] Chr9:121329319 [GRCh38]
Chr9:124091597 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1786G>A (p.Gly596Arg) single nucleotide variant Inborn genetic diseases [RCV002413142]|not provided [RCV003100947] Chr9:121328914 [GRCh38]
Chr9:124091192 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.548G>C (p.Arg183Pro) single nucleotide variant Inborn genetic diseases [RCV002364864] Chr9:121312373 [GRCh38]
Chr9:124074651 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.617G>A (p.Arg206Gln) single nucleotide variant Inborn genetic diseases [RCV002400635]|not provided [RCV003099725] Chr9:121312442 [GRCh38]
Chr9:124074720 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.-9-2088G>T single nucleotide variant Inborn genetic diseases [RCV002389902]|not provided [RCV003095246] Chr9:121299875 [GRCh38]
Chr9:124062153 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.98A>C (p.Asn33Thr) single nucleotide variant Inborn genetic diseases [RCV002433024] Chr9:121302069 [GRCh38]
Chr9:124064347 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.2072C>T (p.Thr691Met) single nucleotide variant Inborn genetic diseases [RCV002428130]|not provided [RCV003561029] Chr9:121332479 [GRCh38]
Chr9:124094757 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1399G>A (p.Gly467Arg) single nucleotide variant Inborn genetic diseases [RCV002403398]|not provided [RCV003096921] Chr9:121324627 [GRCh38]
Chr9:124086905 [GRCh37]
Chr9:9q33.2		 likely benign|uncertain significance
NM_198252.3(GSN):c.1252T>C (p.Tyr418His) single nucleotide variant Inborn genetic diseases [RCV002389371] Chr9:121321328 [GRCh38]
Chr9:124083606 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.-9-1962C>A single nucleotide variant Inborn genetic diseases [RCV002389457]|not provided [RCV003095111] Chr9:121300001 [GRCh38]
Chr9:124062279 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.2174C>A (p.Ala725Asp) single nucleotide variant Inborn genetic diseases [RCV002457611] Chr9:121332581 [GRCh38]
Chr9:124094859 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1643C>T (p.Pro548Leu) single nucleotide variant Inborn genetic diseases [RCV002407799] Chr9:121327363 [GRCh38]
Chr9:124089641 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.998G>A (p.Gly333Asp) single nucleotide variant Inborn genetic diseases [RCV002353030] Chr9:121318687 [GRCh38]
Chr9:124080965 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.-9-2068T>G single nucleotide variant Inborn genetic diseases [RCV002337539]|not provided [RCV003099526] Chr9:121299895 [GRCh38]
Chr9:124062173 [GRCh37]
Chr9:9q33.2		 likely benign|uncertain significance
NM_198252.3(GSN):c.-9-1986C>T single nucleotide variant Inborn genetic diseases [RCV002329919]|not provided [RCV003102549]|not specified [RCV003151404] Chr9:121299977 [GRCh38]
Chr9:124062255 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.356G>A (p.Gly119Glu) single nucleotide variant Inborn genetic diseases [RCV002335975] Chr9:121310688 [GRCh38]
Chr9:124072966 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1274T>C (p.Ile425Thr) single nucleotide variant Inborn genetic diseases [RCV002391967] Chr9:121321350 [GRCh38]
Chr9:124083628 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.2015C>G (p.Ala672Gly) single nucleotide variant Inborn genetic diseases [RCV002432670] Chr9:121331437 [GRCh38]
Chr9:124093715 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1769T>C (p.Phe590Ser) single nucleotide variant Inborn genetic diseases [RCV002410743] Chr9:121328897 [GRCh38]
Chr9:124091175 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1813C>T (p.Arg605Trp) single nucleotide variant Inborn genetic diseases [RCV002423398] Chr9:121328941 [GRCh38]
Chr9:124091219 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.-9-2091A>C single nucleotide variant Inborn genetic diseases [RCV002346940] Chr9:121299872 [GRCh38]
Chr9:124062150 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1822G>A (p.Asp608Asn) single nucleotide variant Inborn genetic diseases [RCV002423570] Chr9:121328950 [GRCh38]
Chr9:124091228 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.-9-2091A>G single nucleotide variant Inborn genetic diseases [RCV002346948]|not provided [RCV003102723] Chr9:121299872 [GRCh38]
Chr9:124062150 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.268G>A (p.Gly90Ser) single nucleotide variant Inborn genetic diseases [RCV002328029] Chr9:121302982 [GRCh38]
Chr9:124065260 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.5T>C (p.Val2Ala) single nucleotide variant Inborn genetic diseases [RCV002398411] Chr9:121301976 [GRCh38]
Chr9:124064254 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1769_1775delinsCCT (p.Phe590fs) indel Inborn genetic diseases [RCV002410732] Chr9:121328897..121328903 [GRCh38]
Chr9:124091175..124091181 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1714A>G (p.Arg572Gly) single nucleotide variant Inborn genetic diseases [RCV002415011] Chr9:121327434 [GRCh38]
Chr9:124089712 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.-9-2090C>G single nucleotide variant Inborn genetic diseases [RCV002380779] Chr9:121299873 [GRCh38]
Chr9:124062151 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.689C>T (p.Pro230Leu) single nucleotide variant Inborn genetic diseases [RCV002414354]|not provided [RCV003776505] Chr9:121313959 [GRCh38]
Chr9:124076237 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.906G>A (p.Glu302=) single nucleotide variant Inborn genetic diseases [RCV002407583] Chr9:121318425 [GRCh38]
Chr9:124080703 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1614C>G (p.Asn538Lys) single nucleotide variant Inborn genetic diseases [RCV002407641] Chr9:121327334 [GRCh38]
Chr9:124089612 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1763-17G>A single nucleotide variant not provided [RCV002771251] Chr9:121328874 [GRCh38]
Chr9:124091152 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.162C>T (p.Asn54=) single nucleotide variant not provided [RCV002994650] Chr9:121302133 [GRCh38]
Chr9:124064411 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1505G>A (p.Arg502His) single nucleotide variant not provided [RCV002815468] Chr9:121326600 [GRCh38]
Chr9:124088878 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1692G>C (p.Lys564Asn) single nucleotide variant not provided [RCV002685385] Chr9:121327412 [GRCh38]
Chr9:124089690 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1852C>T (p.Leu618Phe) single nucleotide variant Inborn genetic diseases [RCV002860253] Chr9:121328980 [GRCh38]
Chr9:124091258 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1966-15G>A single nucleotide variant not provided [RCV002881600] Chr9:121331373 [GRCh38]
Chr9:124093651 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1040A>C (p.Asp347Ala) single nucleotide variant not provided [RCV002903041] Chr9:121318729 [GRCh38]
Chr9:124081007 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1326-3dup duplication not provided [RCV002903787] Chr9:121324549..121324550 [GRCh38]
Chr9:124086827..124086828 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.885A>G (p.Lys295=) single nucleotide variant not provided [RCV002512386] Chr9:121317217 [GRCh38]
Chr9:124079495 [GRCh37]
Chr9:9q33.2		 conflicting interpretations of pathogenicity
NM_198252.3(GSN):c.910A>C (p.Arg304=) single nucleotide variant not provided [RCV002731220] Chr9:121318429 [GRCh38]
Chr9:124080707 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.625G>A (p.Val209Met) single nucleotide variant not provided [RCV002615325] Chr9:121312450 [GRCh38]
Chr9:124074728 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1372C>T (p.Leu458=) single nucleotide variant not provided [RCV002794841] Chr9:121324600 [GRCh38]
Chr9:124086878 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.855C>T (p.His285=) single nucleotide variant not provided [RCV002996049] Chr9:121317187 [GRCh38]
Chr9:124079465 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1224C>T (p.Pro408=) single nucleotide variant not provided [RCV002975672] Chr9:121321300 [GRCh38]
Chr9:124083578 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.613G>A (p.Ala205Thr) single nucleotide variant Inborn genetic diseases [RCV002883413] Chr9:121312438 [GRCh38]
Chr9:124074716 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.171G>T (p.Leu57=) single nucleotide variant not provided [RCV002681417] Chr9:121302142 [GRCh38]
Chr9:124064420 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1533C>T (p.Ser511=) single nucleotide variant not provided [RCV002613737] Chr9:121326628 [GRCh38]
Chr9:124088906 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.-9-2035C>T single nucleotide variant not provided [RCV003012177] Chr9:121299928 [GRCh38]
Chr9:124062206 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1762+3A>C single nucleotide variant Inborn genetic diseases [RCV002905921] Chr9:121327485 [GRCh38]
Chr9:124089763 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1830G>A (p.Lys610=) single nucleotide variant not provided [RCV002755020] Chr9:121328958 [GRCh38]
Chr9:124091236 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1322A>G (p.Asn441Ser) single nucleotide variant Inborn genetic diseases [RCV002817369] Chr9:121321398 [GRCh38]
Chr9:124083676 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.649G>C (p.Glu217Gln) single nucleotide variant not provided [RCV002617527] Chr9:121312474 [GRCh38]
Chr9:124074752 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1417-14T>A single nucleotide variant not provided [RCV002690175] Chr9:121326498 [GRCh38]
Chr9:124088776 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.421G>A (p.Val141Ile) single nucleotide variant not provided [RCV002727068] Chr9:121310753 [GRCh38]
Chr9:124073031 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.617G>T (p.Arg206Leu) single nucleotide variant not provided [RCV002617618] Chr9:121312442 [GRCh38]
Chr9:124074720 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1306G>A (p.Gly436Arg) single nucleotide variant not provided [RCV002947455] Chr9:121321382 [GRCh38]
Chr9:124083660 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1064G>A (p.Gly355Asp) single nucleotide variant not provided [RCV002690069] Chr9:121318753 [GRCh38]
Chr9:124081031 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.537C>T (p.Ser179=) single nucleotide variant not provided [RCV002740348] Chr9:121312362 [GRCh38]
Chr9:124074640 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1150G>A (p.Ala384Thr) single nucleotide variant not provided [RCV003003093] Chr9:121318839 [GRCh38]
Chr9:124081117 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.710C>T (p.Ala237Val) single nucleotide variant not provided [RCV002621622] Chr9:121313980 [GRCh38]
Chr9:124076258 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.-9-2001C>T single nucleotide variant not provided [RCV002796393] Chr9:121299962 [GRCh38]
Chr9:124062240 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.-9-1948C>T single nucleotide variant not provided [RCV002659009] Chr9:121300015 [GRCh38]
Chr9:124062293 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.-9-2053del deletion not provided [RCV002736641] Chr9:121299909 [GRCh38]
Chr9:124062187 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.663+15C>T single nucleotide variant not provided [RCV002590431] Chr9:121312503 [GRCh38]
Chr9:124074781 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.548G>A (p.Arg183Gln) single nucleotide variant Inborn genetic diseases [RCV002952240] Chr9:121312373 [GRCh38]
Chr9:124074651 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.552T>C (p.Tyr184=) single nucleotide variant not provided [RCV002820285] Chr9:121312377 [GRCh38]
Chr9:124074655 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.2009C>T (p.Thr670Ile) single nucleotide variant not provided [RCV002735897] Chr9:121331431 [GRCh38]
Chr9:124093709 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.384G>A (p.Val128=) single nucleotide variant not provided [RCV002639096] Chr9:121310716 [GRCh38]
Chr9:124072994 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.351+3G>A single nucleotide variant not provided [RCV002621080] Chr9:121303068 [GRCh38]
Chr9:124065346 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1887+11G>A single nucleotide variant not provided [RCV002639006] Chr9:121329026 [GRCh38]
Chr9:124091304 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.726C>G (p.Ala242=) single nucleotide variant not provided [RCV002867936] Chr9:121313996 [GRCh38]
Chr9:124076274 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.-9-2023G>T single nucleotide variant not provided [RCV003036079] Chr9:121299940 [GRCh38]
Chr9:124062218 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.414C>G (p.Leu138=) single nucleotide variant not provided [RCV002636388] Chr9:121310746 [GRCh38]
Chr9:124073024 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.789C>T (p.Leu263=) single nucleotide variant not provided [RCV002569473] Chr9:121317121 [GRCh38]
Chr9:124079399 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.211C>T (p.Gln71Ter) single nucleotide variant not provided [RCV003019417] Chr9:121302925 [GRCh38]
Chr9:124065203 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1104G>A (p.Arg368=) single nucleotide variant not provided [RCV002695786] Chr9:121318793 [GRCh38]
Chr9:124081071 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.201T>A (p.Asn67Lys) single nucleotide variant not provided [RCV002619847] Chr9:121302915 [GRCh38]
Chr9:124065193 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.567C>T (p.Ala189=) single nucleotide variant not provided [RCV002949551] Chr9:121312392 [GRCh38]
Chr9:124074670 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1839C>T (p.Ala613=) single nucleotide variant not provided [RCV002848432] Chr9:121328967 [GRCh38]
Chr9:124091245 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1093A>G (p.Asn365Asp) single nucleotide variant not provided [RCV003020426] Chr9:121318782 [GRCh38]
Chr9:124081060 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1266C>T (p.Ser422=) single nucleotide variant not provided [RCV002590581] Chr9:121321342 [GRCh38]
Chr9:124083620 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.277G>T (p.Val93Leu) single nucleotide variant not provided [RCV002756789] Chr9:121302991 [GRCh38]
Chr9:124065269 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1171G>C (p.Asp391His) single nucleotide variant not provided [RCV002706144] Chr9:121318860 [GRCh38]
Chr9:124081138 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1640C>G (p.Thr547Ser) single nucleotide variant not provided [RCV002824454] Chr9:121327360 [GRCh38]
Chr9:124089638 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.753+2T>A single nucleotide variant not provided [RCV002796543] Chr9:121314025 [GRCh38]
Chr9:124076303 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.66G>A (p.Val22=) single nucleotide variant not provided [RCV002695252] Chr9:121302037 [GRCh38]
Chr9:124064315 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1723C>G (p.Arg575Gly) single nucleotide variant not provided [RCV002866482] Chr9:121327443 [GRCh38]
Chr9:124089721 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.975+18G>C single nucleotide variant not provided [RCV002658949] Chr9:121318512 [GRCh38]
Chr9:124080790 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.-9-2064C>T single nucleotide variant not provided [RCV002570026] Chr9:121299899 [GRCh38]
Chr9:124062177 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1416+19C>G single nucleotide variant not provided [RCV002659023] Chr9:121324663 [GRCh38]
Chr9:124086941 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.871dup (p.Ile291fs) duplication not provided [RCV002886577] Chr9:121317199..121317200 [GRCh38]
Chr9:124079477..124079478 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1937A>T (p.Asp646Val) single nucleotide variant not provided [RCV002734990] Chr9:121329287 [GRCh38]
Chr9:124091565 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1102C>T (p.Arg368Trp) single nucleotide variant not provided [RCV002590350] Chr9:121318791 [GRCh38]
Chr9:124081069 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1134C>T (p.Thr378=) single nucleotide variant not provided [RCV002927511] Chr9:121318823 [GRCh38]
Chr9:124081101 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1974C>A (p.Val658=) single nucleotide variant not provided [RCV002894460] Chr9:121331396 [GRCh38]
Chr9:124093674 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.352-19T>C single nucleotide variant not provided [RCV002593684] Chr9:121310665 [GRCh38]
Chr9:124072943 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1203C>T (p.Ile401=) single nucleotide variant not provided [RCV002574177] Chr9:121321279 [GRCh38]
Chr9:124083557 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.2085G>T (p.Val695=) single nucleotide variant not provided [RCV002805770] Chr9:121332492 [GRCh38]
Chr9:124094770 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.286C>A (p.Arg96Ser) single nucleotide variant not provided [RCV002710465] Chr9:121303000 [GRCh38]
Chr9:124065278 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.-9-1947G>A single nucleotide variant not provided [RCV002626511] Chr9:121300016 [GRCh38]
Chr9:124062294 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1887+5G>A single nucleotide variant not provided [RCV002875888] Chr9:121329020 [GRCh38]
Chr9:124091298 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.442C>T (p.Arg148Cys) single nucleotide variant not provided [RCV002711233] Chr9:121310774 [GRCh38]
Chr9:124073052 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1993C>T (p.Gln665Ter) single nucleotide variant not provided [RCV002801421] Chr9:121331415 [GRCh38]
Chr9:124093693 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.2027-13C>T single nucleotide variant not provided [RCV002890574] Chr9:121332421 [GRCh38]
Chr9:124094699 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.-9-2044G>A single nucleotide variant not provided [RCV002625926] Chr9:121299919 [GRCh38]
Chr9:124062197 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1762+15G>C single nucleotide variant not provided [RCV002594335] Chr9:121327497 [GRCh38]
Chr9:124089775 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.222C>T (p.Ser74=) single nucleotide variant not provided [RCV002643796] Chr9:121302936 [GRCh38]
Chr9:124065214 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1588-4C>T single nucleotide variant not provided [RCV003023140] Chr9:121327304 [GRCh38]
Chr9:124089582 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1890C>T (p.Ile630=) single nucleotide variant not provided [RCV002572709] Chr9:121329240 [GRCh38]
Chr9:124091518 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1231C>T (p.Pro411Ser) single nucleotide variant not provided [RCV002786659] Chr9:121321307 [GRCh38]
Chr9:124083585 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1573dup (p.Thr525fs) duplication not provided [RCV002508439] Chr9:121326667..121326668 [GRCh38]
Chr9:124088945..124088946 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.197-14C>T single nucleotide variant not provided [RCV002701331] Chr9:121302897 [GRCh38]
Chr9:124065175 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.-9-1964G>A single nucleotide variant not provided [RCV003057048] Chr9:121299999 [GRCh38]
Chr9:124062277 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.-9-1959G>T single nucleotide variant not provided [RCV002711843] Chr9:121300004 [GRCh38]
Chr9:124062282 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1326-8C>T single nucleotide variant not provided [RCV003039728] Chr9:121324546 [GRCh38]
Chr9:124086824 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.892C>G (p.Gln298Glu) single nucleotide variant not provided [RCV002805336] Chr9:121318411 [GRCh38]
Chr9:124080689 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.887-4A>G single nucleotide variant not provided [RCV002643837] Chr9:121318402 [GRCh38]
Chr9:124080680 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1477A>T (p.Met493Leu) single nucleotide variant Inborn genetic diseases [RCV002665310]|not provided [RCV003546866] Chr9:121326572 [GRCh38]
Chr9:124088850 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1884del (p.Phe628fs) deletion not provided [RCV002626704] Chr9:121329009 [GRCh38]
Chr9:124091287 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1762+20G>A single nucleotide variant not provided [RCV003043121] Chr9:121327502 [GRCh38]
Chr9:124089780 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.19G>A (p.Glu7Lys) single nucleotide variant Inborn genetic diseases [RCV002595148]|not provided [RCV002585435] Chr9:121301990 [GRCh38]
Chr9:124064268 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.119C>T (p.Thr40Met) single nucleotide variant not provided [RCV002642833] Chr9:121302090 [GRCh38]
Chr9:124064368 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1858G>A (p.Ala620Thr) single nucleotide variant not provided [RCV002829456] Chr9:121328986 [GRCh38]
Chr9:124091264 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.269G>T (p.Gly90Val) single nucleotide variant not provided [RCV002575301] Chr9:121302983 [GRCh38]
Chr9:124065261 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.110A>C (p.Asp37Ala) single nucleotide variant not provided [RCV002574313] Chr9:121302081 [GRCh38]
Chr9:124064359 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1356C>G (p.Val452=) single nucleotide variant not provided [RCV002802017] Chr9:121324584 [GRCh38]
Chr9:124086862 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.430C>T (p.Arg144Trp) single nucleotide variant Inborn genetic diseases [RCV002642811]|not provided [RCV002653272] Chr9:121310762 [GRCh38]
Chr9:124073040 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.89T>G (p.Val30Gly) single nucleotide variant Inborn genetic diseases [RCV002644623] Chr9:121302060 [GRCh38]
Chr9:124064338 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.197-4G>T single nucleotide variant not provided [RCV002626791] Chr9:121302907 [GRCh38]
Chr9:124065185 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1350T>A (p.Asp450Glu) single nucleotide variant not provided [RCV002786740] Chr9:121324578 [GRCh38]
Chr9:124086856 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.239T>C (p.Phe80Ser) single nucleotide variant not provided [RCV002650585] Chr9:121302953 [GRCh38]
Chr9:124065231 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.752A>G (p.Lys251Arg) single nucleotide variant not provided [RCV002962847] Chr9:121314022 [GRCh38]
Chr9:124076300 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1199G>C (p.Arg400Thr) single nucleotide variant Inborn genetic diseases [RCV002718454] Chr9:121321275 [GRCh38]
Chr9:124083553 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1724G>T (p.Arg575Leu) single nucleotide variant not provided [RCV002631318] Chr9:121327444 [GRCh38]
Chr9:124089722 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1080C>T (p.Ser360=) single nucleotide variant not provided [RCV002721204] Chr9:121318769 [GRCh38]
Chr9:124081047 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.-9-2072G>T single nucleotide variant not provided [RCV002716253] Chr9:121299891 [GRCh38]
Chr9:124062169 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.-9-1968_-9-1954del deletion not provided [RCV002900359] Chr9:121299995..121300009 [GRCh38]
Chr9:124062273..124062287 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1763-2A>G single nucleotide variant not provided [RCV003031576] Chr9:121328889 [GRCh38]
Chr9:124091167 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1588-17A>C single nucleotide variant not provided [RCV002601236] Chr9:121327291 [GRCh38]
Chr9:124089569 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.308C>T (p.Ser103Leu) single nucleotide variant not provided [RCV002939009] Chr9:121303022 [GRCh38]
Chr9:124065300 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.-9-1947G>T single nucleotide variant not provided [RCV003044758] Chr9:121300016 [GRCh38]
Chr9:124062294 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1755C>T (p.Ser585=) single nucleotide variant not provided [RCV003063651] Chr9:121327475 [GRCh38]
Chr9:124089753 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.902C>T (p.Thr301Met) single nucleotide variant not provided [RCV002676178] Chr9:121318421 [GRCh38]
Chr9:124080699 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1379C>T (p.Ala460Val) single nucleotide variant not provided [RCV002597536] Chr9:121324607 [GRCh38]
Chr9:124086885 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.-9-2002dup duplication not provided [RCV003087388] Chr9:121299955..121299956 [GRCh38]
Chr9:124062233..124062234 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1357G>A (p.Ala453Thr) single nucleotide variant Inborn genetic diseases [RCV003086684]|not provided [RCV003086685] Chr9:121324585 [GRCh38]
Chr9:124086863 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.721G>A (p.Ala241Thr) single nucleotide variant not provided [RCV002810375] Chr9:121313991 [GRCh38]
Chr9:124076269 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1604G>A (p.Gly535Asp) single nucleotide variant not provided [RCV002746104] Chr9:121327324 [GRCh38]
Chr9:124089602 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1624G>A (p.Ala542Thr) single nucleotide variant not provided [RCV002716542] Chr9:121327344 [GRCh38]
Chr9:124089622 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1309C>A (p.Gln437Lys) single nucleotide variant not provided [RCV002895394] Chr9:121321385 [GRCh38]
Chr9:124083663 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1552C>T (p.Arg518Cys) single nucleotide variant not provided [RCV002578978] Chr9:121326647 [GRCh38]
Chr9:124088925 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.966G>A (p.Lys322=) single nucleotide variant not provided [RCV002856806] Chr9:121318485 [GRCh38]
Chr9:124080763 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.981G>T (p.Ser327=) single nucleotide variant not provided [RCV002627879] Chr9:121318670 [GRCh38]
Chr9:124080948 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.2175C>T (p.Ala725=) single nucleotide variant not provided [RCV003028669] Chr9:121332582 [GRCh38]
Chr9:124094860 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1762+9C>T single nucleotide variant not provided [RCV002627904] Chr9:121327491 [GRCh38]
Chr9:124089769 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.351+10G>A single nucleotide variant not provided [RCV002720200] Chr9:121303075 [GRCh38]
Chr9:124065353 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1251C>A (p.Phe417Leu) single nucleotide variant Inborn genetic diseases [RCV002807652]|not provided [RCV003777744] Chr9:121321327 [GRCh38]
Chr9:124083605 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.127G>A (p.Ala43Thr) single nucleotide variant not provided [RCV002670752] Chr9:121302098 [GRCh38]
Chr9:124064376 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.43C>T (p.Pro15Ser) single nucleotide variant not provided [RCV002898838] Chr9:121302014 [GRCh38]
Chr9:124064292 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.659T>G (p.Leu220Arg) single nucleotide variant not provided [RCV003028715] Chr9:121312484 [GRCh38]
Chr9:124074762 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.664-11A>G single nucleotide variant not provided [RCV002597827] Chr9:121313923 [GRCh38]
Chr9:124076201 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.2026+15del deletion not provided [RCV002630869] Chr9:121331463 [GRCh38]
Chr9:124093741 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.-9-2088G>A single nucleotide variant not provided [RCV002857583] Chr9:121299875 [GRCh38]
Chr9:124062153 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.61C>T (p.Arg21Cys) single nucleotide variant Inborn genetic diseases [RCV002747539] Chr9:121302032 [GRCh38]
Chr9:124064310 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1191+1G>T single nucleotide variant not provided [RCV002580504] Chr9:121318881 [GRCh38]
Chr9:124081159 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1085A>T (p.His362Leu) single nucleotide variant not provided [RCV002601284] Chr9:121318774 [GRCh38]
Chr9:124081052 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1415A>T (p.Gln472Leu) single nucleotide variant not provided [RCV002632796] Chr9:121324643 [GRCh38]
Chr9:124086921 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.252G>A (p.Leu84=) single nucleotide variant not provided [RCV003030864] Chr9:121302966 [GRCh38]
Chr9:124065244 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1504C>A (p.Arg502Ser) single nucleotide variant not provided [RCV003031320] Chr9:121326599 [GRCh38]
Chr9:124088877 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.371G>A (p.Gly124Glu) single nucleotide variant not provided [RCV002675608] Chr9:121310703 [GRCh38]
Chr9:124072981 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1695G>A (p.Thr565=) single nucleotide variant not provided [RCV003009063] Chr9:121327415 [GRCh38]
Chr9:124089693 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1515G>T (p.Gly505=) single nucleotide variant not provided [RCV002937959] Chr9:121326610 [GRCh38]
Chr9:124088888 [GRCh37]
Chr9:9q33.2		 likely benign|uncertain significance
NM_198252.3(GSN):c.1796C>T (p.Ala599Val) single nucleotide variant not provided [RCV002635791] Chr9:121328924 [GRCh38]
Chr9:124091202 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.415T>C (p.Phe139Leu) single nucleotide variant not provided [RCV002726088] Chr9:121310747 [GRCh38]
Chr9:124073025 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1926G>A (p.Leu642=) single nucleotide variant not provided [RCV002603856] Chr9:121329276 [GRCh38]
Chr9:124091554 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1443C>G (p.Pro481=) single nucleotide variant not provided [RCV002635575] Chr9:121326538 [GRCh38]
Chr9:124088816 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.708C>G (p.Thr236=) single nucleotide variant not provided [RCV002605877] Chr9:121313978 [GRCh38]
Chr9:124076256 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1854C>G (p.Leu618=) single nucleotide variant not provided [RCV002635692] Chr9:121328982 [GRCh38]
Chr9:124091260 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1149C>T (p.Ala383=) single nucleotide variant not provided [RCV002633187] Chr9:121318838 [GRCh38]
Chr9:124081116 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.622C>T (p.His208Tyr) single nucleotide variant not provided [RCV002657872] Chr9:121312447 [GRCh38]
Chr9:124074725 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.33A>G (p.Ala11=) single nucleotide variant not provided [RCV002608263] Chr9:121302004 [GRCh38]
Chr9:124064282 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1191+13C>T single nucleotide variant not provided [RCV002585748] Chr9:121318893 [GRCh38]
Chr9:124081171 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1221G>A (p.Val407=) single nucleotide variant not provided [RCV002586648] Chr9:121321297 [GRCh38]
Chr9:124083575 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.810C>T (p.Phe270=) single nucleotide variant not provided [RCV002607428] Chr9:121317142 [GRCh38]
Chr9:124079420 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1403G>A (p.Gly468Asp) single nucleotide variant not provided [RCV002609422] Chr9:121324631 [GRCh38]
Chr9:124086909 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.117C>T (p.Phe39=) single nucleotide variant not provided [RCV002588913] Chr9:121302088 [GRCh38]
Chr9:124064366 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.2057A>G (p.Asn686Ser) single nucleotide variant GSN-related condition [RCV003418558]|not provided [RCV002588943] Chr9:121332464 [GRCh38]
Chr9:124094742 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.-9-2094C>T single nucleotide variant not provided [RCV002583570] Chr9:121299869 [GRCh38]
Chr9:124062147 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1304del (p.Gln435fs) deletion not provided [RCV003092678] Chr9:121321380 [GRCh38]
Chr9:124083658 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.894G>A (p.Gln298=) single nucleotide variant not provided [RCV002657920] Chr9:121318413 [GRCh38]
Chr9:124080691 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1820A>C (p.Lys607Thr) single nucleotide variant not provided [RCV002588245] Chr9:121328948 [GRCh38]
Chr9:124091226 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.996C>A (p.Gly332=) single nucleotide variant not provided [RCV002588258] Chr9:121318685 [GRCh38]
Chr9:124080963 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1476C>G (p.Pro492=) single nucleotide variant not provided [RCV002590256] Chr9:121326571 [GRCh38]
Chr9:124088849 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1785C>T (p.Gly595=) single nucleotide variant not provided [RCV002585527] Chr9:121328913 [GRCh38]
Chr9:124091191 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1119C>T (p.Ala373=) single nucleotide variant not provided [RCV002612844] Chr9:121318808 [GRCh38]
Chr9:124081086 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.663+19A>G single nucleotide variant not provided [RCV002612932] Chr9:121312507 [GRCh38]
Chr9:124074785 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.-9-2084del deletion Inborn genetic diseases [RCV003250799]|not provided [RCV002611582] Chr9:121299876 [GRCh38]
Chr9:124062154 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1887+12C>T single nucleotide variant not provided [RCV002584148] Chr9:121329027 [GRCh38]
Chr9:124091305 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.-9-2030C>T single nucleotide variant not provided [RCV002612115] Chr9:121299933 [GRCh38]
Chr9:124062211 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.87C>T (p.Pro29=) single nucleotide variant not provided [RCV002590184]|not specified [RCV003151412] Chr9:121302058 [GRCh38]
Chr9:124064336 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.-9-1987dup duplication Meretoja syndrome [RCV003158015] Chr9:121299971..121299972 [GRCh38]
Chr9:124062249..124062250 [GRCh37]
Chr9:9q33.2		 likely pathogenic
NM_198252.3(GSN):c.1700C>A (p.Ala567Asp) single nucleotide variant Inborn genetic diseases [RCV003218687] Chr9:121327420 [GRCh38]
Chr9:124089698 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.131A>G (p.Tyr44Cys) single nucleotide variant Inborn genetic diseases [RCV003374325] Chr9:121302102 [GRCh38]
Chr9:124064380 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.611G>A (p.Arg204Gln) single nucleotide variant Inborn genetic diseases [RCV003364090]|not provided [RCV003561322] Chr9:121312436 [GRCh38]
Chr9:124074714 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1619A>G (p.Asn540Ser) single nucleotide variant Inborn genetic diseases [RCV003365209] Chr9:121327339 [GRCh38]
Chr9:124089617 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.351+1G>A single nucleotide variant Inborn genetic diseases [RCV003362643] Chr9:121303066 [GRCh38]
Chr9:124065344 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.578C>T (p.Ser193Phe) single nucleotide variant not provided [RCV003571109] Chr9:121312403 [GRCh38]
Chr9:124074681 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1494C>T (p.Gly498=) single nucleotide variant not provided [RCV003874500] Chr9:121326589 [GRCh38]
Chr9:124088867 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1253A>T (p.Tyr418Phe) single nucleotide variant not provided [RCV003712554] Chr9:121321329 [GRCh38]
Chr9:124083607 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1887+13G>A single nucleotide variant not provided [RCV003880800] Chr9:121329028 [GRCh38]
Chr9:124091306 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1582G>A (p.Val528Ile) single nucleotide variant not provided [RCV003880736] Chr9:121326677 [GRCh38]
Chr9:124088955 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1419C>T (p.Ser473=) single nucleotide variant not provided [RCV003691126] Chr9:121326514 [GRCh38]
Chr9:124088792 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.-10+5174_-10+5203del deletion not provided [RCV003430231] Chr9:121286734..121286763 [GRCh38]
Chr9:124049012..124049041 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.225G>C (p.Gly75=) single nucleotide variant not provided [RCV003430233] Chr9:121302939 [GRCh38]
Chr9:124065217 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1326-1036C>T single nucleotide variant Meretoja syndrome [RCV003448628] Chr9:121323518 [GRCh38]
Chr9:124085796 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.-10+5185A>T single nucleotide variant not provided [RCV003430232] Chr9:121286747 [GRCh38]
Chr9:124049025 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1695G>T (p.Thr565=) single nucleotide variant not provided [RCV003740072] Chr9:121327415 [GRCh38]
Chr9:124089693 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1548G>T (p.Gln516His) single nucleotide variant not provided [RCV003824796] Chr9:121326643 [GRCh38]
Chr9:124088921 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1504C>T (p.Arg502Cys) single nucleotide variant not provided [RCV003882433] Chr9:121326599 [GRCh38]
Chr9:124088877 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.-9-2061T>C single nucleotide variant not provided [RCV003662622] Chr9:121299902 [GRCh38]
Chr9:124062180 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.753G>A (p.Lys251=) single nucleotide variant not provided [RCV003688307] Chr9:121314023 [GRCh38]
Chr9:124076301 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.2171G>A (p.Arg724Lys) single nucleotide variant not provided [RCV003690260] Chr9:121332578 [GRCh38]
Chr9:124094856 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.663+17C>A single nucleotide variant not provided [RCV003828313] Chr9:121312505 [GRCh38]
Chr9:124074783 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.663+13T>C single nucleotide variant not provided [RCV003572019] Chr9:121312501 [GRCh38]
Chr9:124074779 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1621G>C (p.Asp541His) single nucleotide variant not provided [RCV003689430] Chr9:121327341 [GRCh38]
Chr9:124089619 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.197-7C>G single nucleotide variant not provided [RCV003739876] Chr9:121302904 [GRCh38]
Chr9:124065182 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.2086G>A (p.Val696Met) single nucleotide variant not provided [RCV003739877] Chr9:121332493 [GRCh38]
Chr9:124094771 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1224dup (p.Val409fs) duplication not provided [RCV003576673] Chr9:121321297..121321298 [GRCh38]
Chr9:124083575..124083576 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1326-10C>A single nucleotide variant not provided [RCV003694765] Chr9:121324544 [GRCh38]
Chr9:124086822 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1295G>A (p.Gly432Asp) single nucleotide variant not provided [RCV003829332] Chr9:121321371 [GRCh38]
Chr9:124083649 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1699G>A (p.Ala567Thr) single nucleotide variant not provided [RCV003660070] Chr9:121327419 [GRCh38]
Chr9:124089697 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.775A>G (p.Met259Val) single nucleotide variant not provided [RCV003739760] Chr9:121317107 [GRCh38]
Chr9:124079385 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.664-11A>C single nucleotide variant not provided [RCV003882418] Chr9:121313923 [GRCh38]
Chr9:124076201 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.80T>C (p.Leu27Pro) single nucleotide variant not provided [RCV003826517] Chr9:121302051 [GRCh38]
Chr9:124064329 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.585C>G (p.Gly195=) single nucleotide variant not provided [RCV003715750] Chr9:121312410 [GRCh38]
Chr9:124074688 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.469G>A (p.Glu157Lys) single nucleotide variant not provided [RCV003879292] Chr9:121310801 [GRCh38]
Chr9:124073079 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1192-7C>T single nucleotide variant not provided [RCV003714790] Chr9:121321261 [GRCh38]
Chr9:124083539 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1140T>C (p.Thr380=) single nucleotide variant not provided [RCV003547528] Chr9:121318829 [GRCh38]
Chr9:124081107 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1165G>T (p.Asp389Tyr) single nucleotide variant not provided [RCV003546951] Chr9:121318854 [GRCh38]
Chr9:124081132 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.479A>G (p.Asn160Ser) single nucleotide variant not provided [RCV003833707] Chr9:121310811 [GRCh38]
Chr9:124073089 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1676C>T (p.Ala559Val) single nucleotide variant not provided [RCV003549829] Chr9:121327396 [GRCh38]
Chr9:124089674 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1901C>A (p.Pro634His) single nucleotide variant not provided [RCV003699759] Chr9:121329251 [GRCh38]
Chr9:124091529 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1587+11G>C single nucleotide variant not provided [RCV003849431] Chr9:121326693 [GRCh38]
Chr9:124088971 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.2137G>T (p.Asp713Tyr) single nucleotide variant not provided [RCV003659058] Chr9:121332544 [GRCh38]
Chr9:124094822 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.2066G>A (p.Arg689Gln) single nucleotide variant not provided [RCV003850526] Chr9:121332473 [GRCh38]
Chr9:124094751 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1436A>G (p.Lys479Arg) single nucleotide variant not provided [RCV003698183] Chr9:121326531 [GRCh38]
Chr9:124088809 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1728C>A (p.Ala576=) single nucleotide variant not provided [RCV003699501] Chr9:121327448 [GRCh38]
Chr9:124089726 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.636G>A (p.Glu212=) single nucleotide variant not provided [RCV003833573] Chr9:121312461 [GRCh38]
Chr9:124074739 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1302C>G (p.Arg434=) single nucleotide variant not provided [RCV003833574] Chr9:121321378 [GRCh38]
Chr9:124083656 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.751A>C (p.Lys251Gln) single nucleotide variant not provided [RCV003835845] Chr9:121314021 [GRCh38]
Chr9:124076299 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1938C>T (p.Asp646=) single nucleotide variant not provided [RCV003816756] Chr9:121329288 [GRCh38]
Chr9:124091566 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.-9-2082C>T single nucleotide variant not provided [RCV003836495] Chr9:121299881 [GRCh38]
Chr9:124062159 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.43C>G (p.Pro15Ala) single nucleotide variant not provided [RCV003668174] Chr9:121302014 [GRCh38]
Chr9:124064292 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.181C>T (p.Leu61Phe) single nucleotide variant not provided [RCV003836805] Chr9:121302152 [GRCh38]
Chr9:124064430 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1888-12G>T single nucleotide variant not provided [RCV003814405] Chr9:121329226 [GRCh38]
Chr9:124091504 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.460G>A (p.Val154Met) single nucleotide variant not provided [RCV003703068] Chr9:121310792 [GRCh38]
Chr9:124073070 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.564G>A (p.Lys188=) single nucleotide variant not provided [RCV003835387] Chr9:121312389 [GRCh38]
Chr9:124074667 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1554C>T (p.Arg518=) single nucleotide variant not provided [RCV003717213] Chr9:121326649 [GRCh38]
Chr9:124088927 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1537C>T (p.Arg513Cys) single nucleotide variant not provided [RCV003834275] Chr9:121326632 [GRCh38]
Chr9:124088910 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1564G>A (p.Ala522Thr) single nucleotide variant not provided [RCV003559224] Chr9:121326659 [GRCh38]
Chr9:124088937 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1289G>A (p.Arg430His) single nucleotide variant not provided [RCV003550241] Chr9:121321365 [GRCh38]
Chr9:124083643 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1571C>T (p.Ala524Val) single nucleotide variant not provided [RCV003561944] Chr9:121326666 [GRCh38]
Chr9:124088944 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1757_1762+10dup duplication not provided [RCV003669995] Chr9:121327474..121327475 [GRCh38]
Chr9:124089752..124089753 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1250T>A (p.Phe417Tyr) single nucleotide variant not provided [RCV003671130] Chr9:121321326 [GRCh38]
Chr9:124083604 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.-9-2061_-9-2032dup duplication not provided [RCV003817586] Chr9:121299899..121299900 [GRCh38]
Chr9:124062177..124062178 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1417-10T>G single nucleotide variant not provided [RCV003670140] Chr9:121326502 [GRCh38]
Chr9:124088780 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1465G>C (p.Gly489Arg) single nucleotide variant not provided [RCV003837583] Chr9:121326560 [GRCh38]
Chr9:124088838 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1113C>T (p.Phe371=) single nucleotide variant not provided [RCV003724569] Chr9:121318802 [GRCh38]
Chr9:124081080 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1362A>G (p.Ala454=) single nucleotide variant not provided [RCV003659530] Chr9:121324590 [GRCh38]
Chr9:124086868 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.133G>A (p.Val45Ile) single nucleotide variant not provided [RCV003849670] Chr9:121302104 [GRCh38]
Chr9:124064382 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1326-14A>C single nucleotide variant not provided [RCV003697656] Chr9:121324540 [GRCh38]
Chr9:124086818 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1116C>A (p.Asp372Glu) single nucleotide variant not provided [RCV003700382] Chr9:121318805 [GRCh38]
Chr9:124081083 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.975+8T>C single nucleotide variant not provided [RCV003698185] Chr9:121318502 [GRCh38]
Chr9:124080780 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1417-16C>G single nucleotide variant not provided [RCV003861464] Chr9:121326496 [GRCh38]
Chr9:124088774 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1430A>G (p.Gln477Arg) single nucleotide variant not provided [RCV003712078] Chr9:121326525 [GRCh38]
Chr9:124088803 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1052C>G (p.Thr351Arg) single nucleotide variant not provided [RCV003859190] Chr9:121318741 [GRCh38]
Chr9:124081019 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1921G>T (p.Asp641Tyr) single nucleotide variant not provided [RCV003848484] Chr9:121329271 [GRCh38]
Chr9:124091549 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.976-3C>T single nucleotide variant not provided [RCV003675476] Chr9:121318662 [GRCh38]
Chr9:124080940 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.754-10G>A single nucleotide variant not provided [RCV003845519] Chr9:121317076 [GRCh38]
Chr9:124079354 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1966-11C>G single nucleotide variant not provided [RCV003861082] Chr9:121331377 [GRCh38]
Chr9:124093655 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1319A>G (p.Tyr440Cys) single nucleotide variant not provided [RCV003864108] Chr9:121321395 [GRCh38]
Chr9:124083673 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.528G>T (p.Trp176Cys) single nucleotide variant not provided [RCV003708961] Chr9:121312353 [GRCh38]
Chr9:124074631 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.-9-2006G>A single nucleotide variant not provided [RCV003711343] Chr9:121299957 [GRCh38]
Chr9:124062235 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1095C>T (p.Asn365=) single nucleotide variant not provided [RCV003818919] Chr9:121318784 [GRCh38]
Chr9:124081062 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1441C>T (p.Pro481Ser) single nucleotide variant not provided [RCV003710498] Chr9:121326536 [GRCh38]
Chr9:124088814 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1724G>A (p.Arg575Gln) single nucleotide variant not provided [RCV003823723] Chr9:121327444 [GRCh38]
Chr9:124089722 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1505G>T (p.Arg502Leu) single nucleotide variant not provided [RCV003863189] Chr9:121326600 [GRCh38]
Chr9:124088878 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.2176A>G (p.Met726Val) single nucleotide variant not provided [RCV003848665] Chr9:121332583 [GRCh38]
Chr9:124094861 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.360T>G (p.Gly120=) single nucleotide variant not provided [RCV003824425] Chr9:121310692 [GRCh38]
Chr9:124072970 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.903G>A (p.Thr301=) single nucleotide variant not provided [RCV003821551] Chr9:121318422 [GRCh38]
Chr9:124080700 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.730C>T (p.Arg244Cys) single nucleotide variant not provided [RCV003553855] Chr9:121314000 [GRCh38]
Chr9:124076278 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1366G>T (p.Ala456Ser) single nucleotide variant not provided [RCV003683274] Chr9:121324594 [GRCh38]
Chr9:124086872 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.988C>T (p.Pro330Ser) single nucleotide variant not provided [RCV003675689] Chr9:121318677 [GRCh38]
Chr9:124080955 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.88G>A (p.Val30Met) single nucleotide variant not provided [RCV003821984] Chr9:121302059 [GRCh38]
Chr9:124064337 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.996C>T (p.Gly332=) single nucleotide variant not provided [RCV003670708] Chr9:121318685 [GRCh38]
Chr9:124080963 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1594C>A (p.Pro532Thr) single nucleotide variant not provided [RCV003822203] Chr9:121327314 [GRCh38]
Chr9:124089592 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.982G>T (p.Val328Phe) single nucleotide variant not provided [RCV003566243] Chr9:121318671 [GRCh38]
Chr9:124080949 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1960G>A (p.Asp654Asn) single nucleotide variant not provided [RCV003822467] Chr9:121329310 [GRCh38]
Chr9:124091588 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.304G>A (p.Glu102Lys) single nucleotide variant not provided [RCV003705532] Chr9:121303018 [GRCh38]
Chr9:124065296 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.-9-2052C>T single nucleotide variant not provided [RCV003554031] Chr9:121299911 [GRCh38]
Chr9:124062189 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.841T>C (p.Phe281Leu) single nucleotide variant not provided [RCV003853351] Chr9:121317173 [GRCh38]
Chr9:124079451 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.69G>A (p.Glu23=) single nucleotide variant not provided [RCV003867316] Chr9:121302040 [GRCh38]
Chr9:124064318 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.680C>T (p.Pro227Leu) single nucleotide variant not provided [RCV003868769] Chr9:121313950 [GRCh38]
Chr9:124076228 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.-9-2030C>A single nucleotide variant not provided [RCV003719469] Chr9:121299933 [GRCh38]
Chr9:124062211 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.112T>C (p.Phe38Leu) single nucleotide variant not provided [RCV003684373] Chr9:121302083 [GRCh38]
Chr9:124064361 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1326-7del deletion not provided [RCV003683867] Chr9:121324544 [GRCh38]
Chr9:124086822 [GRCh37]
Chr9:9q33.2		 benign
NM_198252.3(GSN):c.1153C>T (p.Gln385Ter) single nucleotide variant not provided [RCV003680909] Chr9:121318842 [GRCh38]
Chr9:124081120 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.2038A>G (p.Ile680Val) single nucleotide variant not provided [RCV003674873] Chr9:121332445 [GRCh38]
Chr9:124094723 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.754-9T>C single nucleotide variant not provided [RCV003867941] Chr9:121317077 [GRCh38]
Chr9:124079355 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1934A>G (p.Asp645Gly) single nucleotide variant not provided [RCV003674923] Chr9:121329284 [GRCh38]
Chr9:124091562 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.223G>T (p.Gly75Trp) single nucleotide variant not provided [RCV003853828] Chr9:121302937 [GRCh38]
Chr9:124065215 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.-9-1985G>A single nucleotide variant not provided [RCV003684614] Chr9:121299978 [GRCh38]
Chr9:124062256 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.120G>A (p.Thr40=) single nucleotide variant not provided [RCV003872199] Chr9:121302091 [GRCh38]
Chr9:124064369 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.-9-2043C>T single nucleotide variant not provided [RCV003867193] Chr9:121299920 [GRCh38]
Chr9:124062198 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.831A>G (p.Ser277=) single nucleotide variant not provided [RCV003869118] Chr9:121317163 [GRCh38]
Chr9:124079441 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1356C>T (p.Val452=) single nucleotide variant not provided [RCV003859271] Chr9:121324584 [GRCh38]
Chr9:124086862 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.425A>G (p.Lys142Arg) single nucleotide variant not provided [RCV003860948] Chr9:121310757 [GRCh38]
Chr9:124073035 [GRCh37]
Chr9:9q33.2		 uncertain significance
GRCh37/hg19 9q33.2-33.3(chr9:122755951-127551056)x1 copy number loss not specified [RCV003986827] Chr9:122755951..127551056 [GRCh37]
Chr9:9q33.2-33.3		 pathogenic
NM_198252.3(GSN):c.1191+9A>G single nucleotide variant not provided [RCV003675709] Chr9:121318889 [GRCh38]
Chr9:124081167 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1675G>A (p.Ala559Thr) single nucleotide variant not provided [RCV003728233] Chr9:121327395 [GRCh38]
Chr9:124089673 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.351+2T>C single nucleotide variant not provided [RCV003551742] Chr9:121303067 [GRCh38]
Chr9:124065345 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.649G>A (p.Glu217Lys) single nucleotide variant not provided [RCV003557471] Chr9:121312474 [GRCh38]
Chr9:124074752 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.753+14G>A single nucleotide variant not provided [RCV003685101] Chr9:121314037 [GRCh38]
Chr9:124076315 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1588-9C>T single nucleotide variant not provided [RCV003819863] Chr9:121327299 [GRCh38]
Chr9:124089577 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1701C>T (p.Ala567=) single nucleotide variant not provided [RCV003869980] Chr9:121327421 [GRCh38]
Chr9:124089699 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.2068C>T (p.Arg690Trp) single nucleotide variant not provided [RCV003721620] Chr9:121332475 [GRCh38]
Chr9:124094753 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.2077A>G (p.Ile693Val) single nucleotide variant not provided [RCV003712306] Chr9:121332484 [GRCh38]
Chr9:124094762 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.514-11C>G single nucleotide variant not provided [RCV003847935] Chr9:121312328 [GRCh38]
Chr9:124074606 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.2164T>C (p.Leu722=) single nucleotide variant not provided [RCV003820151] Chr9:121332571 [GRCh38]
Chr9:124094849 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1120G>A (p.Ala374Thr) single nucleotide variant not provided [RCV003719731] Chr9:121318809 [GRCh38]
Chr9:124081087 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1801C>T (p.Arg601Cys) single nucleotide variant not provided [RCV003821690] Chr9:121328929 [GRCh38]
Chr9:124091207 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1669A>G (p.Thr557Ala) single nucleotide variant not provided [RCV003848255] Chr9:121327389 [GRCh38]
Chr9:124089667 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.615C>T (p.Ala205=) single nucleotide variant not provided [RCV003862088] Chr9:121312440 [GRCh38]
Chr9:124074718 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.254A>T (p.Asp85Val) single nucleotide variant not provided [RCV003710076] Chr9:121302968 [GRCh38]
Chr9:124065246 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.410G>T (p.Arg137Ile) single nucleotide variant not provided [RCV003681221] Chr9:121310742 [GRCh38]
Chr9:124073020 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.736C>T (p.Leu246=) single nucleotide variant not provided [RCV003819229] Chr9:121314006 [GRCh38]
Chr9:124076284 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.335C>A (p.Ser112Tyr) single nucleotide variant not provided [RCV003554593] Chr9:121303049 [GRCh38]
Chr9:124065327 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1263C>T (p.Asp421=) single nucleotide variant not provided [RCV003565874] Chr9:121321339 [GRCh38]
Chr9:124083617 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.514-19C>G single nucleotide variant not provided [RCV003674817] Chr9:121312320 [GRCh38]
Chr9:124074598 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.272G>T (p.Arg91Leu) single nucleotide variant not provided [RCV003848069] Chr9:121302986 [GRCh38]
Chr9:124065264 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1762+2T>A single nucleotide variant not provided [RCV003676191] Chr9:121327484 [GRCh38]
Chr9:124089762 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.436G>A (p.Val146Met) single nucleotide variant not provided [RCV003731095] Chr9:121310768 [GRCh38]
Chr9:124073046 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.686T>C (p.Leu229Pro) single nucleotide variant not provided [RCV003822379] Chr9:121313956 [GRCh38]
Chr9:124076234 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1966-6C>T single nucleotide variant not provided [RCV003680577] Chr9:121331382 [GRCh38]
Chr9:124093660 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.-9-2025G>T single nucleotide variant not provided [RCV003858507] Chr9:121299938 [GRCh38]
Chr9:124062216 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.90G>A (p.Val30=) single nucleotide variant not provided [RCV003566445] Chr9:121302061 [GRCh38]
Chr9:124064339 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.1594C>T (p.Pro532Ser) single nucleotide variant not provided [RCV003680742] Chr9:121327314 [GRCh38]
Chr9:124089592 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.886+15G>C single nucleotide variant not provided [RCV003820066] Chr9:121317233 [GRCh38]
Chr9:124079511 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.250C>G (p.Leu84Val) single nucleotide variant not provided [RCV003681779] Chr9:121302964 [GRCh38]
Chr9:124065242 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.1763-18C>T single nucleotide variant not provided [RCV003820208] Chr9:121328873 [GRCh38]
Chr9:124091151 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.2026+9C>T single nucleotide variant not provided [RCV003730011] Chr9:121331457 [GRCh38]
Chr9:124093735 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.513+15C>T single nucleotide variant not provided [RCV003843999] Chr9:121310860 [GRCh38]
Chr9:124073138 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.-9-2101A>G single nucleotide variant not provided [RCV003845300] Chr9:121299862 [GRCh38]
Chr9:124062140 [GRCh37]
Chr9:9q33.2		 uncertain significance
NM_198252.3(GSN):c.708C>T (p.Thr236=) single nucleotide variant not provided [RCV003863307] Chr9:121313978 [GRCh38]
Chr9:124076256 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.-10+908C>T single nucleotide variant GSN-related condition [RCV003979429] Chr9:121282470 [GRCh38]
Chr9:124044748 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.30G>A (p.Lys10=) single nucleotide variant GSN-related condition [RCV003964005] Chr9:121302001 [GRCh38]
Chr9:124064279 [GRCh37]
Chr9:9q33.2		 likely benign
NM_198252.3(GSN):c.-10+4624G>T single nucleotide variant GSN-related condition [RCV003924252] Chr9:121286186 [GRCh38]
Chr9:124048464 [GRCh37]
Chr9:9q33.2		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5063
Count of miRNA genes:938
Interacting mature miRNAs:1170
Transcripts:ENST00000341272, ENST00000373805, ENST00000373806, ENST00000373807, ENST00000373808, ENST00000373818, ENST00000373823, ENST00000394353, ENST00000412819, ENST00000432226, ENST00000436847, ENST00000449733, ENST00000449773, ENST00000475428, ENST00000477104, ENST00000477553, ENST00000477863, ENST00000483960, ENST00000485767, ENST00000545652
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
WI-18229  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379124,068,849 - 124,068,998UniSTSGRCh37
Build 369123,108,670 - 123,108,819RGDNCBI36
Celera994,717,356 - 94,717,505RGD
Cytogenetic Map9q33UniSTS
HuRef993,686,611 - 93,686,760UniSTS
GeneMap99-GB4 RH Map9373.88UniSTS
Whitehead-RH Map9447.2UniSTS
SHGC-82301  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379124,088,722 - 124,089,030UniSTSGRCh37
Build 369123,128,543 - 123,128,851RGDNCBI36
Celera994,737,230 - 94,737,538RGD
Cytogenetic Map9q33UniSTS
HuRef993,706,485 - 93,706,793UniSTS
GDB:597556  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379124,073,013 - 124,073,122UniSTSGRCh37
Build 369123,112,834 - 123,112,943RGDNCBI36
Celera994,721,520 - 94,721,629RGD
Cytogenetic Map9q33UniSTS
HuRef993,690,775 - 93,690,884UniSTS
SHGC-132035  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379124,094,911 - 124,095,101UniSTSGRCh37
Build 369123,134,732 - 123,134,922RGDNCBI36
Celera994,743,419 - 94,743,609RGD
Cytogenetic Map9q33UniSTS
HuRef993,712,674 - 93,712,864UniSTS
GSN  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379124,064,263 - 124,064,443UniSTSGRCh37
Build 369123,104,084 - 123,104,264RGDNCBI36
Celera994,712,763 - 94,712,943RGD
HuRef993,682,018 - 93,682,198UniSTS
STS-X04412  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379124,094,913 - 124,095,040UniSTSGRCh37
Build 369123,134,734 - 123,134,861RGDNCBI36
Celera994,743,421 - 94,743,548RGD
Cytogenetic Map9q33UniSTS
HuRef993,712,676 - 93,712,803UniSTS
GeneMap99-GB4 RH Map9375.65UniSTS
RH66047  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379124,073,835 - 124,074,013UniSTSGRCh37
Build 369123,113,656 - 123,113,834RGDNCBI36
Celera994,722,342 - 94,722,520RGD
Cytogenetic Map9q33UniSTS
HuRef993,691,597 - 93,691,775UniSTS
GeneMap99-GB4 RH Map9373.88UniSTS
D9S1050E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379124,094,926 - 124,095,086UniSTSGRCh37
Build 369123,134,747 - 123,134,907RGDNCBI36
Celera994,743,434 - 94,743,594RGD
Cytogenetic Map9q33UniSTS
HuRef993,712,689 - 93,712,849UniSTS
GeneMap99-GB4 RH Map9373.77UniSTS
SHGC-37121  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379124,073,744 - 124,073,874UniSTSGRCh37
Build 369123,113,565 - 123,113,695RGDNCBI36
Celera994,722,251 - 94,722,381RGD
Cytogenetic Map9q33UniSTS
HuRef993,691,506 - 93,691,636UniSTS
Stanford-G3 RH Map81420.0UniSTS
NCBI RH Map8427.5UniSTS
RH17399  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379124,094,812 - 124,094,968UniSTSGRCh37
Build 369123,134,633 - 123,134,789RGDNCBI36
Celera994,743,320 - 94,743,476RGD
Cytogenetic Map9q33UniSTS
HuRef993,712,575 - 93,712,731UniSTS
GeneMap99-GB4 RH Map9373.77UniSTS
G10520  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379124,094,910 - 124,095,075UniSTSGRCh37
Build 369123,134,731 - 123,134,896RGDNCBI36
Celera994,743,418 - 94,743,583RGD
Cytogenetic Map9q33UniSTS
HuRef993,712,673 - 93,712,838UniSTS
D9S1953  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379124,094,938 - 124,095,044UniSTSGRCh37
Build 369123,134,759 - 123,134,865RGDNCBI36
Celera994,743,446 - 94,743,552RGD
Cytogenetic Map9q33UniSTS
HuRef993,712,701 - 93,712,807UniSTS
Stanford-G3 RH Map94286.0UniSTS
NCBI RH Map91168.7UniSTS
GeneMap99-G3 RH Map94184.0UniSTS
D9S323  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379124,086,978 - 124,087,246UniSTSGRCh37
Build 369123,126,799 - 123,127,067RGDNCBI36
Celera994,735,486 - 94,735,754RGD
Cytogenetic Map9q33UniSTS
HuRef993,704,741 - 93,705,009UniSTS
Whitehead-YAC Contig Map9 UniSTS
MARC_23632-23633:1027531903:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379124,064,303 - 124,065,323UniSTSGRCh37
Build 369123,104,124 - 123,105,144RGDNCBI36
Celera994,712,803 - 94,713,823RGD
HuRef993,682,058 - 93,683,078UniSTS
STS-AA029453  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q33UniSTS
GeneMap99-GB4 RH Map6147.46UniSTS
NCBI RH Map6643.0UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 1044 1550 380 10 16 1997 705 607 15 198 384 10 1043 1325
Medium 1362 1419 1272 545 1372 396 2353 1473 3068 386 1237 1165 160 161 1463 3
Low 24 22 71 67 541 68 6 16 33 17 17 62 3 1
Below cutoff 4 1 20 1 1 14 1 7 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001127662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001127663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001127664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001127665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001127666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001127667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001258029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001258030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005251944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001746283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AI742454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL513122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC026033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU151663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA294394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA394782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA450851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA823796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB170452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB250757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC316173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC341948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC370937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC378873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ900912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X04412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X07065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X07066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000373806   ⟹   ENSP00000362912
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9121,326,582 - 121,332,662 (+)Ensembl
RefSeq Acc Id: ENST00000373807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9121,311,471 - 121,331,890 (+)Ensembl
RefSeq Acc Id: ENST00000373808   ⟹   ENSP00000362914
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9121,268,060 - 121,332,738 (+)Ensembl
RefSeq Acc Id: ENST00000373818   ⟹   ENSP00000362924
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9121,299,793 - 121,332,842 (+)Ensembl
RefSeq Acc Id: ENST00000373823   ⟹   ENSP00000362929
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9121,207,800 - 121,332,843 (+)Ensembl
RefSeq Acc Id: ENST00000394353   ⟹   ENSP00000377882
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9121,286,123 - 121,332,646 (+)Ensembl
RefSeq Acc Id: ENST00000432226   ⟹   ENSP00000404226
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9121,268,162 - 121,332,842 (+)Ensembl
RefSeq Acc Id: ENST00000434663
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9121,207,794 - 121,265,186 (+)Ensembl
RefSeq Acc Id: ENST00000449733   ⟹   ENSP00000409358
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9121,268,168 - 121,332,843 (+)Ensembl
RefSeq Acc Id: ENST00000477104   ⟹   ENSP00000489067
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9121,286,123 - 121,312,488 (+)Ensembl
RefSeq Acc Id: ENST00000477553
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9121,328,853 - 121,332,589 (+)Ensembl
RefSeq Acc Id: ENST00000477863
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9121,268,163 - 121,312,475 (+)Ensembl
RefSeq Acc Id: ENST00000483960
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9121,281,472 - 121,321,311 (+)Ensembl
RefSeq Acc Id: ENST00000485767
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9121,308,371 - 121,317,886 (+)Ensembl
RefSeq Acc Id: ENST00000545652   ⟹   ENSP00000445823
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9121,286,592 - 121,332,656 (+)Ensembl
RefSeq Acc Id: ENST00000699558   ⟹   ENSP00000514432
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9121,281,470 - 121,332,828 (+)Ensembl
RefSeq Acc Id: NM_000177   ⟹   NP_000168
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,299,831 - 121,332,842 (+)NCBI
GRCh379124,030,380 - 124,095,122 (+)NCBI
Build 369123,101,900 - 123,134,941 (+)NCBI Archive
HuRef993,648,171 - 93,712,883 (+)ENTREZGENE
CHM1_19124,208,963 - 124,242,004 (+)NCBI
T2T-CHM13v2.09133,495,840 - 133,528,852 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001127662   ⟹   NP_001121134
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,268,162 - 121,332,842 (+)NCBI
GRCh379124,030,380 - 124,095,122 (+)NCBI
HuRef993,648,171 - 93,712,883 (+)ENTREZGENE
CHM1_19124,177,269 - 124,242,004 (+)NCBI
T2T-CHM13v2.09133,464,182 - 133,528,852 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001127663   ⟹   NP_001121135
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,268,162 - 121,332,842 (+)NCBI
GRCh379124,030,380 - 124,095,122 (+)NCBI
HuRef993,648,171 - 93,712,883 (+)ENTREZGENE
CHM1_19124,177,269 - 124,242,004 (+)NCBI
T2T-CHM13v2.09133,464,182 - 133,528,852 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001127664   ⟹   NP_001121136
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,268,162 - 121,332,842 (+)NCBI
HuRef993,648,171 - 93,712,883 (+)ENTREZGENE
CHM1_19124,177,269 - 124,242,004 (+)NCBI
T2T-CHM13v2.09133,464,182 - 133,528,852 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001127665   ⟹   NP_001121137
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,268,162 - 121,332,842 (+)NCBI
GRCh379124,030,380 - 124,095,122 (+)NCBI
HuRef993,648,171 - 93,712,883 (+)ENTREZGENE
CHM1_19124,177,269 - 124,242,004 (+)NCBI
T2T-CHM13v2.09133,464,182 - 133,528,852 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001127666   ⟹   NP_001121138
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,268,162 - 121,332,842 (+)NCBI
GRCh379124,030,380 - 124,095,122 (+)NCBI
HuRef993,648,171 - 93,712,883 (+)ENTREZGENE
CHM1_19124,177,269 - 124,242,004 (+)NCBI
T2T-CHM13v2.09133,464,182 - 133,528,852 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001127667   ⟹   NP_001121139
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,268,162 - 121,332,842 (+)NCBI
GRCh379124,030,380 - 124,095,122 (+)NCBI
HuRef993,648,171 - 93,712,883 (+)ENTREZGENE
CHM1_19124,177,269 - 124,242,004 (+)NCBI
T2T-CHM13v2.09133,464,182 - 133,528,852 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001258029   ⟹   NP_001244958
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,286,105 - 121,332,842 (+)NCBI
GRCh379124,030,380 - 124,095,122 (+)NCBI
HuRef993,648,171 - 93,712,883 (+)NCBI
CHM1_19124,195,243 - 124,242,004 (+)NCBI
T2T-CHM13v2.09133,482,116 - 133,528,852 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001258030   ⟹   NP_001244959
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,286,549 - 121,332,842 (+)NCBI
GRCh379124,030,380 - 124,095,122 (+)NCBI
HuRef993,648,171 - 93,712,883 (+)NCBI
CHM1_19124,195,742 - 124,242,004 (+)NCBI
T2T-CHM13v2.09133,482,560 - 133,528,852 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353053   ⟹   NP_001339982
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,201,483 - 121,332,842 (+)NCBI
T2T-CHM13v2.09133,397,510 - 133,528,852 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353054   ⟹   NP_001339983
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,201,483 - 121,332,842 (+)NCBI
T2T-CHM13v2.09133,397,510 - 133,528,852 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353055   ⟹   NP_001339984
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,268,162 - 121,332,842 (+)NCBI
T2T-CHM13v2.09133,464,182 - 133,528,852 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353056   ⟹   NP_001339985
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,268,162 - 121,332,842 (+)NCBI
T2T-CHM13v2.09133,464,182 - 133,528,852 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353057   ⟹   NP_001339986
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,268,162 - 121,332,842 (+)NCBI
T2T-CHM13v2.09133,464,182 - 133,528,852 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353058   ⟹   NP_001339987
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,268,162 - 121,332,842 (+)NCBI
T2T-CHM13v2.09133,464,182 - 133,528,852 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353059   ⟹   NP_001339988
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,268,162 - 121,332,842 (+)NCBI
T2T-CHM13v2.09133,464,182 - 133,528,852 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353060   ⟹   NP_001339989
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,268,162 - 121,332,842 (+)NCBI
T2T-CHM13v2.09133,464,182 - 133,528,852 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353061   ⟹   NP_001339990
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,268,162 - 121,332,842 (+)NCBI
T2T-CHM13v2.09133,464,182 - 133,528,852 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353062   ⟹   NP_001339991
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,269,925 - 121,332,842 (+)NCBI
T2T-CHM13v2.09133,465,945 - 133,528,852 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353063   ⟹   NP_001339992
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,268,162 - 121,332,842 (+)NCBI
T2T-CHM13v2.09133,464,182 - 133,528,852 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353064   ⟹   NP_001339993
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,268,162 - 121,332,842 (+)NCBI
T2T-CHM13v2.09133,464,182 - 133,528,852 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353065   ⟹   NP_001339994
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,268,162 - 121,332,842 (+)NCBI
T2T-CHM13v2.09133,464,182 - 133,528,852 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353066   ⟹   NP_001339995
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,268,162 - 121,332,842 (+)NCBI
T2T-CHM13v2.09133,464,182 - 133,528,852 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353067   ⟹   NP_001339996
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,268,162 - 121,332,842 (+)NCBI
T2T-CHM13v2.09133,464,182 - 133,528,852 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353068   ⟹   NP_001339997
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,268,162 - 121,332,842 (+)NCBI
T2T-CHM13v2.09133,464,182 - 133,528,852 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353069   ⟹   NP_001339998
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,268,162 - 121,332,842 (+)NCBI
T2T-CHM13v2.09133,464,182 - 133,528,852 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353070   ⟹   NP_001339999
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,268,162 - 121,332,842 (+)NCBI
T2T-CHM13v2.09133,464,182 - 133,528,852 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353071   ⟹   NP_001340000
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,268,162 - 121,332,842 (+)NCBI
T2T-CHM13v2.09133,464,182 - 133,528,852 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353072   ⟹   NP_001340001
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,268,162 - 121,332,842 (+)NCBI
T2T-CHM13v2.09133,464,182 - 133,528,852 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353073   ⟹   NP_001340002
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,268,162 - 121,332,842 (+)NCBI
T2T-CHM13v2.09133,464,182 - 133,528,852 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353074   ⟹   NP_001340003
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,268,162 - 121,332,842 (+)NCBI
T2T-CHM13v2.09133,464,182 - 133,528,852 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353075   ⟹   NP_001340004
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,299,436 - 121,332,842 (+)NCBI
T2T-CHM13v2.09133,495,445 - 133,528,852 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353076   ⟹   NP_001340005
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,268,162 - 121,332,842 (+)NCBI
T2T-CHM13v2.09133,464,182 - 133,528,852 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353077   ⟹   NP_001340006
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,299,660 - 121,332,842 (+)NCBI
T2T-CHM13v2.09133,495,669 - 133,528,852 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353078   ⟹   NP_001340007
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,268,162 - 121,332,842 (+)NCBI
T2T-CHM13v2.09133,464,182 - 133,528,852 (+)NCBI
Sequence:
RefSeq Acc Id: NM_198252   ⟹   NP_937895
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,268,162 - 121,332,842 (+)NCBI
GRCh379124,030,380 - 124,095,122 (+)NCBI
Build 369123,070,201 - 123,134,941 (+)NCBI Archive
HuRef993,648,171 - 93,712,883 (+)ENTREZGENE
CHM1_19124,177,269 - 124,242,004 (+)NCBI
T2T-CHM13v2.09133,464,182 - 133,528,852 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005251944   ⟹   XP_005252001
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,299,436 - 121,332,842 (+)NCBI
GRCh379124,030,380 - 124,095,122 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011518585   ⟹   XP_011516887
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,286,105 - 121,332,842 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011518594   ⟹   XP_011516896
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,310,768 - 121,332,842 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017014645   ⟹   XP_016870134
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,286,105 - 121,332,842 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047423265   ⟹   XP_047279221
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,268,162 - 121,332,842 (+)NCBI
RefSeq Acc Id: XM_047423266   ⟹   XP_047279222
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,286,549 - 121,332,842 (+)NCBI
RefSeq Acc Id: XM_047423267   ⟹   XP_047279223
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,202,141 - 121,332,842 (+)NCBI
RefSeq Acc Id: XM_047423268   ⟹   XP_047279224
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,202,141 - 121,332,842 (+)NCBI
RefSeq Acc Id: XM_047423269   ⟹   XP_047279225
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,287,704 - 121,332,842 (+)NCBI
RefSeq Acc Id: XM_047423270   ⟹   XP_047279226
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,286,549 - 121,332,842 (+)NCBI
RefSeq Acc Id: XM_047423271   ⟹   XP_047279227
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,286,105 - 121,332,842 (+)NCBI
RefSeq Acc Id: XM_047423272   ⟹   XP_047279228
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,202,141 - 121,332,842 (+)NCBI
RefSeq Acc Id: XM_047423273   ⟹   XP_047279229
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,202,141 - 121,332,842 (+)NCBI
RefSeq Acc Id: XM_054362811   ⟹   XP_054218786
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09133,464,182 - 133,528,852 (+)NCBI
RefSeq Acc Id: XM_054362812   ⟹   XP_054218787
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09133,477,027 - 133,528,852 (+)NCBI
RefSeq Acc Id: XM_054362813   ⟹   XP_054218788
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09133,482,116 - 133,528,852 (+)NCBI
RefSeq Acc Id: XM_054362814   ⟹   XP_054218789
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09133,482,560 - 133,528,852 (+)NCBI
RefSeq Acc Id: XM_054362815   ⟹   XP_054218790
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09133,482,116 - 133,528,852 (+)NCBI
RefSeq Acc Id: XM_054362816   ⟹   XP_054218791
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09133,495,445 - 133,528,852 (+)NCBI
RefSeq Acc Id: XM_054362817   ⟹   XP_054218792
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09133,482,560 - 133,528,852 (+)NCBI
RefSeq Acc Id: XM_054362818   ⟹   XP_054218793
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09133,482,116 - 133,528,852 (+)NCBI
RefSeq Acc Id: XM_054362819   ⟹   XP_054218794
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09133,508,184 - 133,528,852 (+)NCBI
Protein Sequences
Protein RefSeqs NP_000168 (Get FASTA)   NCBI Sequence Viewer  
  NP_001121134 (Get FASTA)   NCBI Sequence Viewer  
  NP_001121135 (Get FASTA)   NCBI Sequence Viewer  
  NP_001121136 (Get FASTA)   NCBI Sequence Viewer  
  NP_001121137 (Get FASTA)   NCBI Sequence Viewer  
  NP_001121138 (Get FASTA)   NCBI Sequence Viewer  
  NP_001121139 (Get FASTA)   NCBI Sequence Viewer  
  NP_001244958 (Get FASTA)   NCBI Sequence Viewer  
  NP_001244959 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339982 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339983 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339984 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339985 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339986 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339987 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339988 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339989 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339990 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339991 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339992 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339993 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339994 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339995 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339996 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339997 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339998 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339999 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340000 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340001 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340002 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340003 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340004 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340005 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340006 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340007 (Get FASTA)   NCBI Sequence Viewer  
  NP_937895 (Get FASTA)   NCBI Sequence Viewer  
  XP_005252001 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516887 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516896 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870134 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279221 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279222 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279223 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279224 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279225 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279226 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279227 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279228 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279229 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218786 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218787 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218788 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218789 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218790 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218791 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218792 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218793 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218794 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH17491 (Get FASTA)   NCBI Sequence Viewer  
  AAH26033 (Get FASTA)   NCBI Sequence Viewer  
  ADO22429 (Get FASTA)   NCBI Sequence Viewer  
  BAG37878 (Get FASTA)   NCBI Sequence Viewer  
  BAG52611 (Get FASTA)   NCBI Sequence Viewer  
  BAG53247 (Get FASTA)   NCBI Sequence Viewer  
  BAG54252 (Get FASTA)   NCBI Sequence Viewer  
  BAH12010 (Get FASTA)   NCBI Sequence Viewer  
  BAH12109 (Get FASTA)   NCBI Sequence Viewer  
  BAH12682 (Get FASTA)   NCBI Sequence Viewer  
  BAH13037 (Get FASTA)   NCBI Sequence Viewer  
  BAH13318 (Get FASTA)   NCBI Sequence Viewer  
  BAH14228 (Get FASTA)   NCBI Sequence Viewer  
  BAH14236 (Get FASTA)   NCBI Sequence Viewer  
  CAA28000 (Get FASTA)   NCBI Sequence Viewer  
  CAA30101 (Get FASTA)   NCBI Sequence Viewer  
  CAA30102 (Get FASTA)   NCBI Sequence Viewer  
  CAH10407 (Get FASTA)   NCBI Sequence Viewer  
  EAW87489 (Get FASTA)   NCBI Sequence Viewer  
  EAW87490 (Get FASTA)   NCBI Sequence Viewer  
  EAW87491 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000362912.2
  ENSP00000362914
  ENSP00000362914.3
  ENSP00000362924
  ENSP00000362924.4
  ENSP00000362929
  ENSP00000362929.2
  ENSP00000377882
  ENSP00000377882.3
  ENSP00000404226
  ENSP00000404226.2
  ENSP00000409358
  ENSP00000409358.2
  ENSP00000445823
  ENSP00000445823.1
  ENSP00000489067.1
  ENSP00000514432
  ENSP00000514432.1
GenBank Protein P06396 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001121136   ⟸   NM_001127664
- Peptide Label: isoform b
- UniProtKB: B7Z992 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001121135   ⟸   NM_001127663
- Peptide Label: isoform f
- UniProtKB: A0A0A0MT01 (UniProtKB/TrEMBL),   B7Z6N2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001121137   ⟸   NM_001127665
- Peptide Label: isoform b
- UniProtKB: B7Z992 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001121138   ⟸   NM_001127666
- Peptide Label: isoform c
- UniProtKB: B7Z992 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001121139   ⟸   NM_001127667
- Peptide Label: isoform c
- UniProtKB: B7Z992 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_937895   ⟸   NM_198252
- Peptide Label: isoform b
- UniProtKB: B7Z992 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001121134   ⟸   NM_001127662
- Peptide Label: isoform b
- UniProtKB: B7Z992 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_000168   ⟸   NM_000177
- Peptide Label: isoform a precursor
- UniProtKB: Q5T0I2 (UniProtKB/Swiss-Prot),   F5H1A8 (UniProtKB/Swiss-Prot),   B7Z5V1 (UniProtKB/Swiss-Prot),   B7Z373 (UniProtKB/Swiss-Prot),   A8MYN7 (UniProtKB/Swiss-Prot),   A8MUD1 (UniProtKB/Swiss-Prot),   A2A418 (UniProtKB/Swiss-Prot),   Q8WVV7 (UniProtKB/Swiss-Prot),   P06396 (UniProtKB/Swiss-Prot),   A0A384MEF1 (UniProtKB/TrEMBL),   B7Z9A0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001244958   ⟸   NM_001258029
- Peptide Label: isoform d
- UniProtKB: A0A0A0MS51 (UniProtKB/TrEMBL),   B7Z992 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001244959   ⟸   NM_001258030
- Peptide Label: isoform e
- UniProtKB: B7Z992 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005252001   ⟸   XM_005251944
- Peptide Label: isoform X4
- UniProtKB: B7Z992 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011516887   ⟸   XM_011518585
- Peptide Label: isoform X2
- UniProtKB: B7Z9A0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011516896   ⟸   XM_011518594
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016870134   ⟸   XM_017014645
- Peptide Label: isoform X3
- UniProtKB: B7Z9A0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001339983   ⟸   NM_001353054
- Peptide Label: isoform b
- UniProtKB: B7Z992 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001339982   ⟸   NM_001353053
- Peptide Label: isoform b
- UniProtKB: B7Z992 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001339993   ⟸   NM_001353064
- Peptide Label: isoform c
- UniProtKB: B7Z992 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001339989   ⟸   NM_001353060
- Peptide Label: isoform b
- UniProtKB: B7Z992 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001339995   ⟸   NM_001353066
- Peptide Label: isoform c
- UniProtKB: B7Z992 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001339990   ⟸   NM_001353061
- Peptide Label: isoform b
- UniProtKB: B7Z992 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001339987   ⟸   NM_001353058
- Peptide Label: isoform b
- UniProtKB: B7Z992 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001340002   ⟸   NM_001353073
- Peptide Label: isoform c
- UniProtKB: B7Z992 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001339994   ⟸   NM_001353065
- Peptide Label: isoform c
- UniProtKB: B7Z992 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001339988   ⟸   NM_001353059
- Peptide Label: isoform b
- UniProtKB: B7Z992 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001340001   ⟸   NM_001353072
- Peptide Label: isoform c
- UniProtKB: B7Z992 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001339997   ⟸   NM_001353068
- Peptide Label: isoform c
- UniProtKB: B7Z992 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001339985   ⟸   NM_001353056
- Peptide Label: isoform b
- UniProtKB: B7Z992 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001340003   ⟸   NM_001353074
- Peptide Label: isoform c
- UniProtKB: B7Z992 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001339998   ⟸   NM_001353069
- Peptide Label: isoform c
- UniProtKB: B7Z992 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001340000   ⟸   NM_001353071
- Peptide Label: isoform c
- UniProtKB: B7Z992 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001340005   ⟸   NM_001353076
- Peptide Label: isoform g
- UniProtKB: A0A8V8TND7 (UniProtKB/TrEMBL),   B7Z9A0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001339999   ⟸   NM_001353070
- Peptide Label: isoform c
- UniProtKB: B7Z992 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001339984   ⟸   NM_001353055
- Peptide Label: isoform b
- UniProtKB: B7Z992 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001339986   ⟸   NM_001353057
- Peptide Label: isoform b
- UniProtKB: B7Z992 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001340007   ⟸   NM_001353078
- Peptide Label: isoform h
- UniProtKB: B3KS49 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001339996   ⟸   NM_001353067
- Peptide Label: isoform c
- UniProtKB: B7Z992 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001339992   ⟸   NM_001353063
- Peptide Label: isoform c
- UniProtKB: B7Z992 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001339991   ⟸   NM_001353062
- Peptide Label: isoform b
- UniProtKB: B7Z992 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001340004   ⟸   NM_001353075
- Peptide Label: isoform c
- UniProtKB: B7Z992 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001340006   ⟸   NM_001353077
- Peptide Label: isoform c
- UniProtKB: B7Z992 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000489067   ⟸   ENST00000477104
RefSeq Acc Id: ENSP00000362912   ⟸   ENST00000373806
RefSeq Acc Id: ENSP00000362914   ⟸   ENST00000373808
RefSeq Acc Id: ENSP00000362924   ⟸   ENST00000373818
RefSeq Acc Id: ENSP00000362929   ⟸   ENST00000373823
RefSeq Acc Id: ENSP00000445823   ⟸   ENST00000545652
RefSeq Acc Id: ENSP00000404226   ⟸   ENST00000432226
RefSeq Acc Id: ENSP00000377882   ⟸   ENST00000394353
RefSeq Acc Id: ENSP00000409358   ⟸   ENST00000449733
RefSeq Acc Id: XP_047279229   ⟸   XM_047423273
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047279223   ⟸   XM_047423267
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047279224   ⟸   XM_047423268
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047279228   ⟸   XM_047423272
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047279221   ⟸   XM_047423265
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047279227   ⟸   XM_047423271
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047279226   ⟸   XM_047423270
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047279222   ⟸   XM_047423266
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047279225   ⟸   XM_047423269
- Peptide Label: isoform X4
RefSeq Acc Id: ENSP00000514432   ⟸   ENST00000699558
RefSeq Acc Id: XP_054218786   ⟸   XM_054362811
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054218787   ⟸   XM_054362812
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054218790   ⟸   XM_054362815
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054218793   ⟸   XM_054362818
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054218788   ⟸   XM_054362813
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054218792   ⟸   XM_054362817
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054218789   ⟸   XM_054362814
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054218791   ⟸   XM_054362816
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054218794   ⟸   XM_054362819
- Peptide Label: isoform X6
Protein Domains
Gelsolin-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P06396-F1-model_v2 AlphaFold P06396 1-782 view protein structure

Promoters
RGD ID:7216045
Promoter ID:EPDNEW_H13769
Type:initiation region
Name:GSN_2
Description:gelsolin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13770  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,268,162 - 121,268,222EPDNEW
RGD ID:7216047
Promoter ID:EPDNEW_H13770
Type:initiation region
Name:GSN_1
Description:gelsolin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13769  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389121,299,831 - 121,299,891EPDNEW
RGD ID:6807756
Promoter ID:HG_KWN:64767
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001127662,   NM_001127663,   NM_001127664,   NM_001127665,   NM_001127666,   NM_001127667,   NM_198252,   OTTHUMT00000053862,   OTTHUMT00000053863,   OTTHUMT00000053867
Position:
Human AssemblyChrPosition (strand)Source
Build 369123,069,991 - 123,070,491 (+)MPROMDB
RGD ID:6852002
Promoter ID:EP73807
Type:initiation region
Name:HS_GSN
Description:Gelsolin (amyloidosis, Finnish type).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 369123,070,261 - 123,070,321EPD
RGD ID:6807556
Promoter ID:HG_KWN:64773
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000373805,   ENST00000373806,   ENST00000394352,   ENST00000394353
Position:
Human AssemblyChrPosition (strand)Source
Build 369123,128,276 - 123,128,776 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4620 AgrOrtholog
COSMIC GSN COSMIC
Ensembl Genes ENSG00000148180 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000373806.1 UniProtKB/TrEMBL
  ENST00000373808 ENTREZGENE
  ENST00000373808.8 UniProtKB/Swiss-Prot
  ENST00000373818 ENTREZGENE
  ENST00000373818.8 UniProtKB/Swiss-Prot
  ENST00000373823 ENTREZGENE
  ENST00000373823.7 UniProtKB/Swiss-Prot
  ENST00000394353 ENTREZGENE
  ENST00000394353.7 UniProtKB/TrEMBL
  ENST00000432226 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000432226.7 UniProtKB/Swiss-Prot
  ENST00000449733 ENTREZGENE
  ENST00000449733.7 UniProtKB/TrEMBL
  ENST00000477104.2 UniProtKB/TrEMBL
  ENST00000545652 ENTREZGENE
  ENST00000545652.6 UniProtKB/Swiss-Prot
  ENST00000699558 ENTREZGENE
  ENST00000699558.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.20.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000148180 GTEx
HGNC ID HGNC:4620 ENTREZGENE
Human Proteome Map GSN Human Proteome Map
InterPro ADF-H/Gelsolin-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Gelsolin-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Villin/Gelsolin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2934 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2934 ENTREZGENE
OMIM 137350 OMIM
PANTHER GELSOLIN UniProtKB/Swiss-Prot
  PTHR11977 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11977:SF29 UniProtKB/TrEMBL
Pfam Gelsolin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29011 PharmGKB
PRINTS GELSOLIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART GEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Actin depolymerizing proteins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0A0MS51 ENTREZGENE, UniProtKB/TrEMBL
  A0A0A0MT01 ENTREZGENE, UniProtKB/TrEMBL
  A0A0U1RQL8_HUMAN UniProtKB/TrEMBL
  A0A384MEF1 ENTREZGENE, UniProtKB/TrEMBL
  A0A8V8TND7 ENTREZGENE, UniProtKB/TrEMBL
  A2A418 ENTREZGENE
  A8MUD1 ENTREZGENE
  A8MYN7 ENTREZGENE
  B3KS49 ENTREZGENE, UniProtKB/TrEMBL
  B7Z373 ENTREZGENE
  B7Z4U6_HUMAN UniProtKB/TrEMBL
  B7Z5V1 ENTREZGENE
  B7Z6N2 ENTREZGENE, UniProtKB/TrEMBL
  B7Z992 ENTREZGENE, UniProtKB/TrEMBL
  B7Z9A0 ENTREZGENE, UniProtKB/TrEMBL
  F5H1A8 ENTREZGENE
  GELS_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5T0H8_HUMAN UniProtKB/TrEMBL
  Q5T0I0_HUMAN UniProtKB/TrEMBL
  Q5T0I2 ENTREZGENE
  Q8WVV7 ENTREZGENE
UniProt Secondary A2A418 UniProtKB/Swiss-Prot
  A8MUD1 UniProtKB/Swiss-Prot
  A8MYN7 UniProtKB/Swiss-Prot
  B7Z373 UniProtKB/Swiss-Prot
  B7Z5V1 UniProtKB/Swiss-Prot
  F5H1A8 UniProtKB/Swiss-Prot
  Q5T0I2 UniProtKB/Swiss-Prot
  Q8WVV7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 GSN  gelsolin  GSN  gelsolin (amyloidosis, Finnish type)  Symbol and/or name change 5135510 APPROVED