SEMA3E (semaphorin 3E) - Rat Genome Database

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Gene: SEMA3E (semaphorin 3E) Homo sapiens
Analyze
Symbol: SEMA3E
Name: semaphorin 3E
RGD ID: 1322177
HGNC Page HGNC:10727
Description: Enables receptor ligand activity and semaphorin receptor binding activity. Involved in several processes, including gonadotrophin-releasing hormone neuronal migration to the hypothalamus; negative regulation of neuron apoptotic process; and positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction. Predicted to be located in extracellular region. Predicted to be active in extracellular space and plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: coll-5; KIAA0331; M-SEMAH; M-SemaK; sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E; SEMAH; semaphorin-3E
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
GRCh38783,363,238 - 83,649,139 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl783,363,238 - 83,649,139 (-)EnsemblGRCh38hg38GRCh38
GRCh37782,992,554 - 83,278,455 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36782,831,158 - 83,116,260 (-)NCBINCBI36Build 36hg18NCBI36
Build 34782,637,872 - 82,922,975NCBI
Celera777,694,433 - 77,979,877 (-)NCBICelera
Cytogenetic Map7q21.11NCBI
HuRef777,887,145 - 77,887,879 (-)NCBIHuRef
HuRef777,595,681 - 77,739,611 (-)NCBIHuRef
CHM1_1782,923,279 - 83,208,527 (-)NCBICHM1_1
T2T-CHM13v2.0784,614,452 - 84,899,593 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2782,325,430 - 82,610,645 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (EXP)
2-butan-2-yl-4-[4-[4-[4-[[2-(2,4-dichlorophenyl)-2-(1,2,4-triazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy]phenyl]-1-piperazinyl]phenyl]-1,2,4-triazol-3-one  (ISO)
3-Nitrobenzanthrone  (EXP)
4,4'-sulfonyldiphenol  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (ISO)
aristolochic acid A  (EXP)
arsenite(3-)  (ISO)
atrazine  (ISO)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
Benzo[k]fluoranthene  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
choline  (ISO)
cisplatin  (EXP)
cocaine  (ISO)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
flutamide  (ISO)
folic acid  (EXP,ISO)
genistein  (ISO)
gentamycin  (ISO)
itraconazole  (ISO)
ketoconazole  (ISO)
L-methionine  (ISO)
lead diacetate  (ISO)
lipopolysaccharide  (EXP)
maneb  (ISO)
mercury dibromide  (EXP)
methapyrilene  (EXP)
microcystin-LR  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
nickel atom  (EXP)
ozone  (ISO)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (EXP)
phenylmercury acetate  (EXP)
pirinixic acid  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
senecionine  (ISO)
silicon dioxide  (ISO)
sodium arsenite  (EXP,ISO)
succimer  (ISO)
sunitinib  (EXP)
temozolomide  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
trovafloxacin  (ISO)
valproic acid  (EXP)
vorinostat  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal aortic valve morphology  (IAGP)
Abnormal cardiac septum morphology  (IAGP)
Abnormal cardiovascular system morphology  (IAGP)
Abnormal cranial nerve morphology  (IAGP)
Abnormal morphology of female internal genitalia  (IAGP)
Abnormal pinna morphology  (IAGP)
Abnormal rib morphology  (IAGP)
Abnormal soft palate morphology  (IAGP)
Abnormal tibia morphology  (IAGP)
Abnormality of bone mineral density  (IAGP)
Abnormality of immune system physiology  (IAGP)
Abnormality of the adrenal glands  (IAGP)
Abnormality of the eye  (IAGP)
Abnormality of the inner ear  (IAGP)
Abnormality of the sense of smell  (IAGP)
Abnormality of vision  (IAGP)
Amenorrhea  (IAGP)
Anophthalmia  (IAGP)
Anosmia  (IAGP)
Anterior hypopituitarism  (IAGP)
Aortic arch aneurysm  (IAGP)
Aplasia/Hypoplasia of the cerebellum  (IAGP)
Aplasia/Hypoplasia of the earlobes  (IAGP)
Aqueductal stenosis  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autism  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bifid femur  (IAGP)
Bifid scrotum  (IAGP)
Brachydactyly  (IAGP)
Choanal atresia  (IAGP)
Chorioretinal coloboma  (IAGP)
Cleft palate  (IAGP)
Cleft upper lip  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Coloboma  (IAGP)
Compulsive behaviors  (IAGP)
Cranial nerve paralysis  (IAGP)
Cryptorchidism  (IAGP)
Dandy-Walker malformation  (IAGP)
Decreased testicular size  (IAGP)
Delayed eruption of teeth  (IAGP)
Delayed puberty  (IAGP)
Depressed nasal bridge  (IAGP)
Dilated cardiomyopathy  (IAGP)
Dimple chin  (IAGP)
Dysphagia  (IAGP)
Epicanthus  (IAGP)
Eyelid coloboma  (IAGP)
Facial asymmetry  (IAGP)
Facial palsy  (IAGP)
Feeding difficulties in infancy  (IAGP)
Gastroesophageal reflux  (IAGP)
Global developmental delay  (IAGP)
Gynecomastia  (IAGP)
Hearing impairment  (IAGP)
Hemivertebrae  (IAGP)
Highly arched eyebrow  (IAGP)
Holoprosencephaly  (IAGP)
Horseshoe kidney  (IAGP)
Hydronephrosis  (IAGP)
Hypertelorism  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypoplasia of the semicircular canal  (IAGP)
Hypoplasia of the zygomatic bone  (IAGP)
Hypotonia  (IAGP)
Infertility  (IAGP)
Intellectual disability  (IAGP)
Interrupted aortic arch  (IAGP)
Intrauterine growth retardation  (IAGP)
Iris coloboma  (IAGP)
Juvenile onset  (IAGP)
Labial hypoplasia  (IAGP)
Lacrimation abnormality  (IAGP)
Laryngomalacia  (IAGP)
Low-set, posteriorly rotated ears  (IAGP)
Microcephaly  (IAGP)
Micropenis  (IAGP)
Microphthalmia  (IAGP)
Microtia  (IAGP)
Narrow face  (IAGP)
Narrow mouth  (IAGP)
Nystagmus  (IAGP)
Omphalocele  (IAGP)
Optic atrophy  (IAGP)
Overfolded helix  (IAGP)
Patent ductus arteriosus  (IAGP)
Pleomorphic xanthoastrocytoma  (IAGP)
Polydactyly  (IAGP)
Polyhydramnios  (IAGP)
Postnatal growth retardation  (IAGP)
Preauricular skin tag  (IAGP)
Primary amenorrhea  (IAGP)
Ptosis  (IAGP)
Respiratory insufficiency  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Short stature  (IAGP)
Sparse axillary hair  (IAGP)
Sparse pubic hair  (IAGP)
Strabismus  (IAGP)
Talipes  (IAGP)
Tetralogy of Fallot  (IAGP)
Tracheoesophageal fistula  (IAGP)
Umbilical hernia  (IAGP)
Vesicoureteral reflux  (IAGP)
Webbed neck  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. SEMA3E mutation in a patient with CHARGE syndrome. Lalani SR, etal., J Med Genet. 2004 Jul;41(7):e94.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
7. Sema3E/PlexinD1 signaling inhibits postischemic angiogenesis by regulating endothelial DLL4 and filopodia formation in a rat model of ischemic stroke. Zhou YF, etal., FASEB J. 2019 Apr;33(4):4947-4961. doi: 10.1096/fj.201801706RR. Epub 2019 Jan 17.
Additional References at PubMed
PMID:9205841   PMID:9515811   PMID:12477932   PMID:12690205   PMID:12853948   PMID:15386596   PMID:15550623   PMID:16344560   PMID:17318185   PMID:18818766   PMID:18974298   PMID:20029409  
PMID:20301509   PMID:20379614   PMID:20664171   PMID:20949546   PMID:21505259   PMID:21555518   PMID:21559368   PMID:21795701   PMID:21873635   PMID:22247010   PMID:23906303   PMID:23932461  
PMID:24139859   PMID:24667918   PMID:24825896   PMID:24841563   PMID:25134534   PMID:25687026   PMID:25985275   PMID:26036259   PMID:26086095   PMID:26292963   PMID:27120047   PMID:27572291  
PMID:27666723   PMID:27911862   PMID:27913633   PMID:28249916   PMID:28506853   PMID:29987050   PMID:30447428   PMID:30736100   PMID:31170375   PMID:33961781   PMID:35156780   PMID:35917012  
PMID:37175783  


Genomics

Comparative Map Data
SEMA3E
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38783,363,238 - 83,649,139 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl783,363,238 - 83,649,139 (-)EnsemblGRCh38hg38GRCh38
GRCh37782,992,554 - 83,278,455 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36782,831,158 - 83,116,260 (-)NCBINCBI36Build 36hg18NCBI36
Build 34782,637,872 - 82,922,975NCBI
Celera777,694,433 - 77,979,877 (-)NCBICelera
Cytogenetic Map7q21.11NCBI
HuRef777,887,145 - 77,887,879 (-)NCBIHuRef
HuRef777,595,681 - 77,739,611 (-)NCBIHuRef
CHM1_1782,923,279 - 83,208,527 (-)NCBICHM1_1
T2T-CHM13v2.0784,614,452 - 84,899,593 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2782,325,430 - 82,610,645 (-)NCBI
Sema3e
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39514,075,290 - 14,306,703 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl514,075,290 - 14,306,703 (+)EnsemblGRCm39 Ensembl
GRCm38514,025,276 - 14,256,689 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl514,025,276 - 14,256,689 (+)EnsemblGRCm38mm10GRCm38
MGSCv37514,025,276 - 14,256,689 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36514,031,321 - 14,260,320 (+)NCBIMGSCv36mm8
Celera1224,396,140 - 24,628,407 (+)NCBICelera
Cytogenetic Map5A1NCBI
cM Map55.66NCBI
Sema3e
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8421,252,686 - 21,510,449 (-)NCBIGRCr8
mRatBN7.2420,297,534 - 20,555,287 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl420,299,718 - 20,555,229 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx425,487,004 - 25,736,649 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0421,330,088 - 21,579,569 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0419,713,113 - 19,962,579 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0417,314,745 - 17,594,659 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl417,272,511 - 17,594,598 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0417,560,774 - 17,563,239 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0417,288,508 - 17,411,535 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4416,523,602 - 16,781,878 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1416,525,151 - 16,673,253 (-)NCBI
Celera415,809,991 - 16,063,707 (-)NCBICelera
Cytogenetic Map4q12NCBI
Sema3e
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554102,732,996 - 2,831,210 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554102,732,983 - 2,831,220 (+)NCBIChiLan1.0ChiLan1.0
SEMA3E
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26101,216,178 - 101,499,805 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan17149,480,816 - 149,764,448 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0775,329,049 - 75,612,946 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1788,994,889 - 89,274,073 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl788,995,049 - 89,274,241 (-)Ensemblpanpan1.1panPan2
SEMA3E
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11822,881,135 - 22,982,549 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1822,881,133 - 23,116,696 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1822,557,413 - 22,793,028 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01823,332,852 - 23,568,629 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1823,332,879 - 23,569,152 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11822,967,259 - 23,202,826 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01822,502,891 - 22,738,629 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01823,164,304 - 23,400,247 (-)NCBIUU_Cfam_GSD_1.0
Sema3e
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511864,648,977 - 64,883,826 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367341,850,673 - 2,084,891 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367341,850,709 - 2,085,541 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SEMA3E
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl996,682,246 - 96,941,072 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1996,682,178 - 96,941,074 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.29106,872,688 - 107,135,027 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SEMA3E
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12165,255,610 - 65,529,021 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2165,415,373 - 65,533,090 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604238,431,351 - 38,737,423 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sema3e
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473931,608,501 - 31,716,640 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473931,606,128 - 31,851,624 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SEMA3E
623 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_012431.3(SEMA3E):c.1977T>C (p.His659=) single nucleotide variant CHARGE association [RCV001394572] Chr7:83367937 [GRCh38]
Chr7:82997253 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.995C>G (p.Thr332Ser) single nucleotide variant CHARGE association [RCV000547703] Chr7:83405453 [GRCh38]
Chr7:83034769 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.2048A>G (p.Asn683Ser) single nucleotide variant CHARGE association [RCV000529199]|Inborn genetic diseases [RCV002527698]|SEMA3E-related condition [RCV003962481]|not provided [RCV001591208] Chr7:83367866 [GRCh38]
Chr7:82997182 [GRCh37]
Chr7:7q21.11		 likely benign|uncertain significance
NC_000007.14:g.(?_83367566)_(83648562_?)del deletion CHARGE association [RCV000545329] Chr7:83367566..83648562 [GRCh38]
Chr7:82996882..83277878 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.990C>G (p.Asn330Lys) single nucleotide variant not provided [RCV000519214] Chr7:83405458 [GRCh38]
Chr7:83034774 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.2108C>T (p.Ser703Leu) single nucleotide variant CHARGE association [RCV000002611]|not specified [RCV002247242] Chr7:83367806 [GRCh38]
Chr7:82997122 [GRCh37]
Chr7:7q21.11		 pathogenic|uncertain significance
GRCh38/hg38 7q21.11(chr7:81674792-84509195)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052130]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052130]|See cases [RCV000052130] Chr7:81674792..84509195 [GRCh38]
Chr7:81304108..84138511 [GRCh37]
Chr7:81142044..83976447 [NCBI36]
Chr7:7q21.11		 uncertain significance
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1 copy number loss See cases [RCV000054118] Chr7:73873420..83988860 [GRCh38]
Chr7:73992744..83618176 [GRCh37]
Chr7:72925686..83456112 [NCBI36]
Chr7:7q11.23-21.11		 pathogenic
NM_012431.2(SEMA3E):c.457-3344T>G single nucleotide variant Lung cancer [RCV000106534] Chr7:83421827 [GRCh38]
Chr7:83051143 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.2(SEMA3E):c.116-2785G>T single nucleotide variant Lung cancer [RCV000106535] Chr7:83493059 [GRCh38]
Chr7:83122375 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.2(SEMA3E):c.116-76354C>G single nucleotide variant Lung cancer [RCV000106536] Chr7:83566628 [GRCh38]
Chr7:83195944 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.2(SEMA3E):c.115+61471C>G single nucleotide variant Lung cancer [RCV000106537] Chr7:83586957 [GRCh38]
Chr7:83216273 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.2(SEMA3E):c.115+12522C>A single nucleotide variant Lung cancer [RCV000106538] Chr7:83635906 [GRCh38]
Chr7:83265222 [GRCh37]
Chr7:7q21.11		 uncertain significance
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
NM_012431.3(SEMA3E):c.2102G>T (p.Ser701Ile) single nucleotide variant CHARGE association [RCV000206468]|CHARGE association [RCV002503797]|not provided [RCV001722115]|not specified [RCV000203069] Chr7:83367812 [GRCh38]
Chr7:82997128 [GRCh37]
Chr7:7q21.11		 benign|likely benign
GRCh38/hg38 7q21.11(chr7:83340444-83395480)x1 copy number loss See cases [RCV000143770] Chr7:83340444..83395480 [GRCh38]
Chr7:82969760..83024796 [GRCh37]
Chr7:82807696..82862732 [NCBI36]
Chr7:7q21.11		 uncertain significance
Single allele deletion Seizure [RCV000240885] Chr7:81587754..84304468 [GRCh38]
Chr7:81217070..83933784 [GRCh37]
Chr7:7q21.11		 likely pathogenic
Single allele deletion Seizure [RCV000240951] Chr7:79708363..87161076 [GRCh38]
Chr7:79337679..86790392 [GRCh37]
Chr7:7q21.11-21.12		 pathogenic|likely pathogenic
NM_012431.3(SEMA3E):c.1855C>T (p.Arg619Cys) single nucleotide variant CHARGE association [RCV000231032]|SEMA3E-related condition [RCV003430768]|not provided [RCV000207418] Chr7:83385314 [GRCh38]
Chr7:83014630 [GRCh37]
Chr7:7q21.11		 likely pathogenic|uncertain significance
NM_012431.3(SEMA3E):c.337-11del deletion CHARGE association [RCV002057228]|not provided [RCV000224570] Chr7:83466612 [GRCh38]
Chr7:83095928 [GRCh37]
Chr7:7q21.11		 benign|likely benign
NM_012431.3(SEMA3E):c.1722A>T (p.Gly574=) single nucleotide variant CHARGE association [RCV000228205]|not provided [RCV001707561] Chr7:83386996 [GRCh38]
Chr7:83016312 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.2155T>G (p.Tyr719Asp) single nucleotide variant CHARGE association [RCV001854923]|not specified [RCV000239117] Chr7:83367759 [GRCh38]
Chr7:82997075 [GRCh37]
Chr7:7q21.11		 uncertain significance
GRCh37/hg19 7q21.11(chr7:83252217-83435286)x1 copy number loss See cases [RCV000446030] Chr7:83252217..83435286 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.2149A>G (p.Ile717Val) single nucleotide variant CHARGE association [RCV001086395]|not provided [RCV000712952] Chr7:83367765 [GRCh38]
Chr7:82997081 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.623G>C (p.Arg208Pro) single nucleotide variant CHARGE association [RCV000860375]|not provided [RCV001668529]|not specified [RCV000251301] Chr7:83408415 [GRCh38]
Chr7:83037731 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.603G>T (p.Ala201=) single nucleotide variant CHARGE association [RCV000860125]|not provided [RCV001541363]|not specified [RCV000246563] Chr7:83408435 [GRCh38]
Chr7:83037751 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.1272G>A (p.Leu424=) single nucleotide variant CHARGE association [RCV000860124]|not provided [RCV001660309]|not specified [RCV000241775] Chr7:83400122 [GRCh38]
Chr7:83029438 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.998+226G>A single nucleotide variant not provided [RCV001564129] Chr7:83405224 [GRCh38]
Chr7:83034540 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.998+12A>T single nucleotide variant CHARGE association [RCV001513847]|not specified [RCV000244726] Chr7:83405438 [GRCh38]
Chr7:83034754 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.1458+93del deletion not provided [RCV001544576] Chr7:83396545 [GRCh38]
Chr7:83025861 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.2220A>G (p.Lys740=) single nucleotide variant CHARGE association [RCV001084100]|SEMA3E-related condition [RCV003897836]|not provided [RCV000416260] Chr7:83367694 [GRCh38]
Chr7:82997010 [GRCh37]
Chr7:7q21.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012431.3(SEMA3E):c.2152G>A (p.Gly718Ser) single nucleotide variant CHARGE association [RCV000559199]|SEMA3E-related condition [RCV003915504]|not provided [RCV001534140] Chr7:83367762 [GRCh38]
Chr7:82997078 [GRCh37]
Chr7:7q21.11		 likely benign|uncertain significance
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NC_000007.14:g.(?_81485635)_(84094822_?)del deletion Schizophrenia [RCV000416754] Chr7:81485635..84094822 [GRCh38]
Chr7:81114951..83724138 [GRCh37]
Chr7:80952887..83562074 [NCBI36]
Chr7:7q21.11		 likely pathogenic
NM_012431.3(SEMA3E):c.1566T>C (p.Tyr522=) single nucleotide variant CHARGE association [RCV000459374]|not provided [RCV000992768] Chr7:83392656 [GRCh38]
Chr7:83021972 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.2211A>G (p.Arg737=) single nucleotide variant CHARGE association [RCV001079551]|not provided [RCV000712953] Chr7:83367703 [GRCh38]
Chr7:82997019 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.1670G>A (p.Arg557His) single nucleotide variant Inborn genetic diseases [RCV002525961]|not provided [RCV000483059] Chr7:83387048 [GRCh38]
Chr7:83016364 [GRCh37]
Chr7:7q21.11		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q21.11(chr7:80348675-83666606)x1 copy number loss See cases [RCV000511923] Chr7:80348675..83666606 [GRCh37]
Chr7:7q21.11		 likely pathogenic
GRCh37/hg19 7q21.11(chr7:83189303-83390868)x1 copy number loss See cases [RCV000511515] Chr7:83189303..83390868 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1303C>G (p.Gln435Glu) single nucleotide variant CHARGE association [RCV000634415]|SEMA3E-related condition [RCV003392473] Chr7:83400091 [GRCh38]
Chr7:83029407 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1637G>A (p.Arg546Gln) single nucleotide variant CHARGE association [RCV000634419] Chr7:83392585 [GRCh38]
Chr7:83021901 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1680A>G (p.Arg560=) single nucleotide variant CHARGE association [RCV000634443]|CHARGE association [RCV002483791]|not provided [RCV001766353] Chr7:83387038 [GRCh38]
Chr7:83016354 [GRCh37]
Chr7:7q21.11		 benign|likely benign
NM_012431.3(SEMA3E):c.900T>C (p.Asn300=) single nucleotide variant CHARGE association [RCV001085991]|not provided [RCV000634449] Chr7:83405973 [GRCh38]
Chr7:83035289 [GRCh37]
Chr7:7q21.11		 benign|likely benign
NM_012431.3(SEMA3E):c.870G>A (p.Ala290=) single nucleotide variant CHARGE association [RCV000634454]|SEMA3E-related condition [RCV003965323] Chr7:83406003 [GRCh38]
Chr7:83035319 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1506G>T (p.Gln502His) single nucleotide variant CHARGE association [RCV000557704] Chr7:83392716 [GRCh38]
Chr7:83022032 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.949A>T (p.Thr317Ser) single nucleotide variant CHARGE association [RCV000535241]|CHARGE association [RCV002506305]|Inborn genetic diseases [RCV002527699]|SEMA3E-related condition [RCV003403269] Chr7:83405499 [GRCh38]
Chr7:83034815 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.713A>G (p.Asp238Gly) single nucleotide variant CHARGE association [RCV000634414] Chr7:83407197 [GRCh38]
Chr7:83036513 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.2320G>T (p.Asp774Tyr) single nucleotide variant CHARGE association [RCV000634437] Chr7:83367594 [GRCh38]
Chr7:82996910 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1017T>A (p.His339Gln) single nucleotide variant CHARGE association [RCV001237262]|Inborn genetic diseases [RCV003258916]|not provided [RCV000659077] Chr7:83402758 [GRCh38]
Chr7:83032074 [GRCh37]
Chr7:7q21.11		 uncertain significance
GRCh37/hg19 7q21.11(chr7:82969760-83073851)x1 copy number loss not provided [RCV000682783] Chr7:82969760..83073851 [GRCh37]
Chr7:7q21.11		 uncertain significance
Single allele deletion not provided [RCV000677988] Chr7:73591993..93683437 [GRCh37]
Chr7:7q11.23-21.3		 uncertain significance
GRCh37/hg19 7q21.11(chr7:82922936-83829252)x3 copy number gain not provided [RCV000682873] Chr7:82922936..83829252 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.520C>T (p.Pro174Ser) single nucleotide variant CHARGE association [RCV000702974] Chr7:83418420 [GRCh38]
Chr7:83047736 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1909C>G (p.Leu637Val) single nucleotide variant CHARGE association [RCV000700496]|CHARGE association [RCV002477608]|SEMA3E-related condition [RCV003420245] Chr7:83368005 [GRCh38]
Chr7:82997321 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.359G>A (p.Arg120Gln) single nucleotide variant CHARGE association [RCV000707193]|Inborn genetic diseases [RCV003258944]|SEMA3E-related condition [RCV003980321] Chr7:83466579 [GRCh38]
Chr7:83095895 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.116-10T>A single nucleotide variant CHARGE association [RCV000706063] Chr7:83490284 [GRCh38]
Chr7:83119600 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1498C>T (p.Arg500Trp) single nucleotide variant CHARGE association [RCV000697569]|CHARGE association [RCV002485702]|not provided [RCV001813799] Chr7:83394299 [GRCh38]
Chr7:83023615 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.2188G>T (p.Glu730Ter) single nucleotide variant CHARGE association [RCV000687970] Chr7:83367726 [GRCh38]
Chr7:82997042 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.167T>C (p.Leu56Pro) single nucleotide variant CHARGE association [RCV000702981]|SEMA3E-related condition [RCV003918138]|not provided [RCV001766544] Chr7:83490223 [GRCh38]
Chr7:83119539 [GRCh37]
Chr7:7q21.11		 uncertain significance
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NC_000007.14:g.(?_81478831)_(84097791_?)del deletion Schizophrenia [RCV000754335] Chr7:81478831..84097791 [GRCh38]
Chr7:7q21.11		 likely pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q21.11(chr7:83041344-83051131)x0 copy number loss not provided [RCV000746850] Chr7:83041344..83051131 [GRCh37]
Chr7:7q21.11		 benign
GRCh37/hg19 7q21.11(chr7:83043016-83051131)x0 copy number loss not provided [RCV000746851] Chr7:83043016..83051131 [GRCh37]
Chr7:7q21.11		 benign
GRCh37/hg19 7q21.11(chr7:83050732-83051131)x0 copy number loss not provided [RCV000746852] Chr7:83050732..83051131 [GRCh37]
Chr7:7q21.11		 benign
GRCh37/hg19 7q21.11(chr7:83128484-83179622)x1 copy number loss not provided [RCV000746853] Chr7:83128484..83179622 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.1367-206T>C single nucleotide variant not provided [RCV001540003] Chr7:83396935 [GRCh38]
Chr7:83026251 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.115+158T>A single nucleotide variant not provided [RCV001534297] Chr7:83648270 [GRCh38]
Chr7:83277586 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.1367-62_1367-61dup duplication not provided [RCV001611942] Chr7:83396784..83396785 [GRCh38]
Chr7:83026100..83026101 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.-362dup duplication not provided [RCV001690743] Chr7:83648903..83648904 [GRCh38]
Chr7:83278219..83278220 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.-341dup duplication not provided [RCV001706983] Chr7:83648882..83648883 [GRCh38]
Chr7:83278198..83278199 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.277-131C>T single nucleotide variant not provided [RCV001690873] Chr7:83469433 [GRCh38]
Chr7:83098749 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.1667+258A>G single nucleotide variant not provided [RCV001586665] Chr7:83392297 [GRCh38]
Chr7:83021613 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1500+286G>A single nucleotide variant not provided [RCV001680144] Chr7:83394011 [GRCh38]
Chr7:83023327 [GRCh37]
Chr7:7q21.11		 benign
NC_000007.14:g.83649204C>T single nucleotide variant not provided [RCV001663126] Chr7:83649204 [GRCh38]
Chr7:83278520 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.550+123A>G single nucleotide variant not provided [RCV001647911] Chr7:83418267 [GRCh38]
Chr7:83047583 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.1738G>A (p.Asp580Asn) single nucleotide variant CHARGE association [RCV002568298]|SEMA3E-related condition [RCV003966175]|not provided [RCV001548239] Chr7:83385431 [GRCh38]
Chr7:83014747 [GRCh37]
Chr7:7q21.11		 likely benign|uncertain significance
NC_000007.14:g.83649271_83649275del deletion not provided [RCV001681146] Chr7:83649270..83649274 [GRCh38]
Chr7:83278586..83278590 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.671-252C>G single nucleotide variant not provided [RCV001583995] Chr7:83407491 [GRCh38]
Chr7:83036807 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1959T>C (p.Phe653=) single nucleotide variant CHARGE association [RCV000928411] Chr7:83367955 [GRCh38]
Chr7:82997271 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1348G>A (p.Val450Ile) single nucleotide variant CHARGE association [RCV000866410]|SEMA3E-related condition [RCV003918380] Chr7:83400046 [GRCh38]
Chr7:83029362 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.264C>T (p.Asp88=) single nucleotide variant CHARGE association [RCV000866642]|SEMA3E-related condition [RCV003955644] Chr7:83490126 [GRCh38]
Chr7:83119442 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.765A>C (p.Ala255=) single nucleotide variant CHARGE association [RCV000866442]|CHARGE association [RCV002495261] Chr7:83407145 [GRCh38]
Chr7:83036461 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.2307C>T (p.Pro769=) single nucleotide variant CHARGE association [RCV001438129] Chr7:83367607 [GRCh38]
Chr7:82996923 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1347C>T (p.Asp449=) single nucleotide variant CHARGE association [RCV000867755]|SEMA3E-related condition [RCV003908235]|not provided [RCV001815450] Chr7:83400047 [GRCh38]
Chr7:83029363 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1710G>A (p.Gln570=) single nucleotide variant CHARGE association [RCV001414883] Chr7:83387008 [GRCh38]
Chr7:83016324 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.738C>A (p.Phe246Leu) single nucleotide variant CHARGE association [RCV001509681]|CHARGE association [RCV002501302] Chr7:83407172 [GRCh38]
Chr7:83036488 [GRCh37]
Chr7:7q21.11		 benign|likely benign
NM_012431.3(SEMA3E):c.337-7G>T single nucleotide variant not provided [RCV000946340] Chr7:83466608 [GRCh38]
Chr7:83095924 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1366+10C>T single nucleotide variant CHARGE association [RCV002064557]|CHARGE association [RCV002495274] Chr7:83400018 [GRCh38]
Chr7:83029334 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1367-4A>G single nucleotide variant CHARGE association [RCV002064495] Chr7:83396733 [GRCh38]
Chr7:83026049 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1243A>T (p.Ile415Leu) single nucleotide variant CHARGE association [RCV001061478] Chr7:83400151 [GRCh38]
Chr7:83029467 [GRCh37]
Chr7:7q21.11		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_012431.3(SEMA3E):c.1876-4G>T single nucleotide variant CHARGE association [RCV000983477] Chr7:83368042 [GRCh38]
Chr7:82997358 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.168T>G (p.Leu56=) single nucleotide variant not provided [RCV000945977] Chr7:83490222 [GRCh38]
Chr7:83119538 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.2109G>T (p.Ser703=) single nucleotide variant not provided [RCV000875336] Chr7:83367805 [GRCh38]
Chr7:82997121 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1435C>T (p.Leu479=) single nucleotide variant CHARGE association [RCV000868795]|CHARGE association [RCV002501283]|SEMA3E-related condition [RCV003938288] Chr7:83396661 [GRCh38]
Chr7:83025977 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1144-7T>C single nucleotide variant CHARGE association [RCV001858545]|CHARGE association [RCV002487902] Chr7:83400257 [GRCh38]
Chr7:83029573 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.671-10G>A single nucleotide variant CHARGE association [RCV000861981] Chr7:83407249 [GRCh38]
Chr7:83036565 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1725A>G (p.Gln575=) single nucleotide variant CHARGE association [RCV001523186]|CHARGE association [RCV002501186]|not provided [RCV003432787] Chr7:83386993 [GRCh38]
Chr7:83016309 [GRCh37]
Chr7:7q21.11		 benign|likely benign
NM_012431.3(SEMA3E):c.671-10G>T single nucleotide variant not provided [RCV000946332] Chr7:83407249 [GRCh38]
Chr7:83036565 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.337-10C>T single nucleotide variant not provided [RCV000946335] Chr7:83466611 [GRCh38]
Chr7:83095927 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.864A>G (p.Leu288=) single nucleotide variant CHARGE association [RCV001416712] Chr7:83406009 [GRCh38]
Chr7:83035325 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.186G>T (p.Leu62=) single nucleotide variant CHARGE association [RCV000874580] Chr7:83490204 [GRCh38]
Chr7:83119520 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1174G>A (p.Gly392Arg) single nucleotide variant CHARGE association [RCV001419278]|CHARGE association [RCV002495319]|SEMA3E-related condition [RCV003967924] Chr7:83400220 [GRCh38]
Chr7:83029536 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1834A>T (p.Ile612Phe) single nucleotide variant CHARGE association [RCV000872305]|not provided [RCV003432832] Chr7:83385335 [GRCh38]
Chr7:83014651 [GRCh37]
Chr7:7q21.11		 benign|likely benign
NM_012431.3(SEMA3E):c.337-9C>T single nucleotide variant CHARGE association [RCV000946341] Chr7:83466610 [GRCh38]
Chr7:83095926 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.929-10A>G single nucleotide variant CHARGE association [RCV002062269] Chr7:83405529 [GRCh38]
Chr7:83034845 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.213C>T (p.Phe71=) single nucleotide variant CHARGE association [RCV001417963]|SEMA3E-related condition [RCV003970553] Chr7:83490177 [GRCh38]
Chr7:83119493 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.597C>T (p.Asp199=) single nucleotide variant CHARGE association [RCV001414760]|SEMA3E-related condition [RCV003983221] Chr7:83408441 [GRCh38]
Chr7:83037757 [GRCh37]
Chr7:7q21.11		 likely benign
GRCh37/hg19 7q21.11(chr7:83118607-83183333)x1 copy number loss not provided [RCV001005983] Chr7:83118607..83183333 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1049G>A (p.Arg350Gln) single nucleotide variant CHARGE association [RCV000809839]|CHARGE association [RCV002501100] Chr7:83402726 [GRCh38]
Chr7:83032042 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.214G>T (p.Val72Leu) single nucleotide variant CHARGE association [RCV000799387]|Inborn genetic diseases [RCV002538022] Chr7:83490176 [GRCh38]
Chr7:83119492 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.718G>T (p.Asp240Tyr) single nucleotide variant CHARGE association [RCV000797635]|not provided [RCV001759513] Chr7:83407192 [GRCh38]
Chr7:83036508 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.511C>T (p.Pro171Ser) single nucleotide variant Amenorrhea [RCV001849448]|CHARGE association [RCV000797835]|SEMA3E-related condition [RCV003424345] Chr7:83418429 [GRCh38]
Chr7:83047745 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1429G>A (p.Val477Ile) single nucleotide variant CHARGE association [RCV000794529]|Inborn genetic diseases [RCV003166118]|SEMA3E-related condition [RCV003411747] Chr7:83396667 [GRCh38]
Chr7:83025983 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1690C>T (p.Arg564Ter) single nucleotide variant CHARGE association [RCV000822657] Chr7:83387028 [GRCh38]
Chr7:83016344 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.2133G>T (p.Lys711Asn) single nucleotide variant CHARGE association [RCV000800132]|CHARGE association [RCV002487688]|SEMA3E-related condition [RCV003424347]|not provided [RCV001548099] Chr7:83367781 [GRCh38]
Chr7:82997097 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.322A>C (p.Lys108Gln) single nucleotide variant CHARGE association [RCV000805221]|SEMA3E-related condition [RCV003908100]|not provided [RCV001567157] Chr7:83469257 [GRCh38]
Chr7:83098573 [GRCh37]
Chr7:7q21.11		 likely benign|uncertain significance
GRCh37/hg19 7q21.11(chr7:83118681-83184510)x1 copy number loss not provided [RCV000846225] Chr7:83118681..83184510 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1081G>A (p.Glu361Lys) single nucleotide variant CHARGE association [RCV000810377]|SEMA3E-related condition [RCV003411790] Chr7:83402694 [GRCh38]
Chr7:83032010 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1918C>T (p.Leu640Phe) single nucleotide variant CHARGE association [RCV000795792]|CHARGE association [RCV002501050] Chr7:83367996 [GRCh38]
Chr7:82997312 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.218G>A (p.Gly73Glu) single nucleotide variant not provided [RCV001090894] Chr7:83490172 [GRCh38]
Chr7:83119488 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1084G>A (p.Gly362Arg) single nucleotide variant CHARGE association [RCV000806983] Chr7:83402691 [GRCh38]
Chr7:83032007 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1043G>A (p.Ser348Asn) single nucleotide variant CHARGE association [RCV000794245]|CHARGE association [RCV002487658] Chr7:83402732 [GRCh38]
Chr7:83032048 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.716G>C (p.Arg239Thr) single nucleotide variant CHARGE association [RCV000822171] Chr7:83407194 [GRCh38]
Chr7:83036510 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.870G>T (p.Ala290=) single nucleotide variant CHARGE association [RCV002064754] Chr7:83406003 [GRCh38]
Chr7:83035319 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1216A>G (p.Arg406Gly) single nucleotide variant CHARGE association [RCV000800441] Chr7:83400178 [GRCh38]
Chr7:83029494 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.2316G>A (p.Thr772=) single nucleotide variant CHARGE association [RCV001430411] Chr7:83367598 [GRCh38]
Chr7:82996914 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.999-9A>G single nucleotide variant CHARGE association [RCV000916149] Chr7:83402785 [GRCh38]
Chr7:83032101 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.2143C>A (p.Gln715Lys) single nucleotide variant CHARGE association [RCV001169983]|not provided [RCV001751299] Chr7:83367771 [GRCh38]
Chr7:82997087 [GRCh37]
Chr7:7q21.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 7q21.11(chr7:82243367-83600926)x1 copy number loss not provided [RCV001005980] Chr7:82243367..83600926 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.396C>G (p.Thr132=) single nucleotide variant CHARGE association [RCV000869779]|SEMA3E-related condition [RCV003895307] Chr7:83466542 [GRCh38]
Chr7:83095858 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.446A>G (p.Tyr149Cys) single nucleotide variant CHARGE association [RCV001043336] Chr7:83466492 [GRCh38]
Chr7:83095808 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1991C>T (p.Thr664Met) single nucleotide variant CHARGE association [RCV001053945]|CHARGE association [RCV002505524]|not provided [RCV000998823] Chr7:83367923 [GRCh38]
Chr7:82997239 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1198G>T (p.Asp400Tyr) single nucleotide variant CHARGE association [RCV001208868]|Inborn genetic diseases [RCV003380881] Chr7:83400196 [GRCh38]
Chr7:83029512 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.635T>C (p.Ile212Thr) single nucleotide variant CHARGE association [RCV001237583] Chr7:83408403 [GRCh38]
Chr7:83037719 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1075C>G (p.His359Asp) single nucleotide variant CHARGE association [RCV001221182]|CHARGE association [RCV002491691] Chr7:83402700 [GRCh38]
Chr7:83032016 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1076A>G (p.His359Arg) single nucleotide variant CHARGE association [RCV001243171]|CHARGE association [RCV002484340]|SEMA3E-related condition [RCV003405442] Chr7:83402699 [GRCh38]
Chr7:83032015 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.154C>A (p.Pro52Thr) single nucleotide variant CHARGE association [RCV001221312] Chr7:83490236 [GRCh38]
Chr7:83119552 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1341A>G (p.Gln447=) single nucleotide variant CHARGE association [RCV001226057]|SEMA3E-related condition [RCV003898213] Chr7:83400053 [GRCh38]
Chr7:83029369 [GRCh37]
Chr7:7q21.11		 likely benign|uncertain significance
NM_012431.3(SEMA3E):c.550+6T>A single nucleotide variant CHARGE association [RCV001230384] Chr7:83418384 [GRCh38]
Chr7:83047700 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1500G>A (p.Arg500=) single nucleotide variant CHARGE association [RCV001043427] Chr7:83394297 [GRCh38]
Chr7:83023613 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.944T>G (p.Leu315Arg) single nucleotide variant Hypogonadotropic hypogonadism 7 with or without anosmia [RCV001197562] Chr7:83405504 [GRCh38]
Chr7:83034820 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1500+10GT[7] microsatellite not provided [RCV001609407] Chr7:83394272..83394273 [GRCh38]
Chr7:83023588..83023589 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.336+125dup duplication not provided [RCV001635688] Chr7:83469112..83469113 [GRCh38]
Chr7:83098428..83098429 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.550+40G>A single nucleotide variant CHARGE association [RCV001807501]|not provided [RCV001685945] Chr7:83418350 [GRCh38]
Chr7:83047666 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.1875+60T>C single nucleotide variant not provided [RCV001596220] Chr7:83385234 [GRCh38]
Chr7:83014550 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.1458+89del deletion not provided [RCV001560731] Chr7:83396549 [GRCh38]
Chr7:83025865 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.-342_-341del deletion not provided [RCV001688419] Chr7:83648883..83648884 [GRCh38]
Chr7:83278199..83278200 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.1736-247T>C single nucleotide variant not provided [RCV001534478] Chr7:83385680 [GRCh38]
Chr7:83014996 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.-369G>T single nucleotide variant not provided [RCV001615942] Chr7:83648911 [GRCh38]
Chr7:83278227 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.1367-117T>C single nucleotide variant not provided [RCV001674130] Chr7:83396846 [GRCh38]
Chr7:83026162 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.337-301T>A single nucleotide variant not provided [RCV001674233] Chr7:83466902 [GRCh38]
Chr7:83096218 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.-556G>A single nucleotide variant not provided [RCV001671574] Chr7:83649098 [GRCh38]
Chr7:83278414 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.551-305A>G single nucleotide variant not provided [RCV001645715] Chr7:83408792 [GRCh38]
Chr7:83038108 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.1739A>G (p.Asp580Gly) single nucleotide variant CHARGE association [RCV001882657]|Inborn genetic diseases [RCV002568420]|SEMA3E-related condition [RCV003921222]|not provided [RCV001562780] Chr7:83385430 [GRCh38]
Chr7:83014746 [GRCh37]
Chr7:7q21.11		 likely benign|uncertain significance
NM_012431.3(SEMA3E):c.1876-173_1876-170del deletion not provided [RCV001682356] Chr7:83368208..83368211 [GRCh38]
Chr7:82997524..82997527 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.957T>G (p.Asp319Glu) single nucleotide variant CHARGE association [RCV001888996]|CHARGE association [RCV002490124] Chr7:83405491 [GRCh38]
Chr7:83034807 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1500+10GT[10] microsatellite not provided [RCV001693934] Chr7:83394271..83394272 [GRCh38]
Chr7:83023587..83023588 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.456+226T>C single nucleotide variant not provided [RCV001544939] Chr7:83466256 [GRCh38]
Chr7:83095572 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.115+157G>A single nucleotide variant not provided [RCV001558208] Chr7:83648271 [GRCh38]
Chr7:83277587 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1501-314T>C single nucleotide variant not provided [RCV001656659] Chr7:83393035 [GRCh38]
Chr7:83022351 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.1876-173_1876-168del deletion not provided [RCV001617411] Chr7:83368206..83368211 [GRCh38]
Chr7:82997522..82997527 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.115+30dup duplication not provided [RCV001650307] Chr7:83648383..83648384 [GRCh38]
Chr7:83277699..83277700 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.456+105C>T single nucleotide variant not provided [RCV001650811] Chr7:83466377 [GRCh38]
Chr7:83095693 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.813+46G>C single nucleotide variant not provided [RCV001652637] Chr7:83407051 [GRCh38]
Chr7:83036367 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.671-47A>T single nucleotide variant CHARGE association [RCV001807445]|not provided [RCV001609968] Chr7:83407286 [GRCh38]
Chr7:83036602 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.802C>A (p.Arg268=) single nucleotide variant CHARGE association [RCV001451641] Chr7:83407108 [GRCh38]
Chr7:83036424 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1498C>A (p.Arg500=) single nucleotide variant CHARGE association [RCV001460777] Chr7:83394299 [GRCh38]
Chr7:83023615 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.378C>T (p.Asn126=) single nucleotide variant CHARGE association [RCV002064763]|SEMA3E-related condition [RCV003895347] Chr7:83466560 [GRCh38]
Chr7:83095876 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.537C>T (p.Ile179=) single nucleotide variant CHARGE association [RCV003603081] Chr7:83418403 [GRCh38]
Chr7:83047719 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1542C>A (p.Val514=) single nucleotide variant not provided [RCV000930610] Chr7:83392680 [GRCh38]
Chr7:83021996 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.2283C>T (p.Ser761=) single nucleotide variant CHARGE association [RCV000861649]|not provided [RCV001719164] Chr7:83367631 [GRCh38]
Chr7:82996947 [GRCh37]
Chr7:7q21.11		 benign|likely benign
NM_012431.3(SEMA3E):c.2097G>A (p.Gln699=) single nucleotide variant not provided [RCV000930720] Chr7:83367817 [GRCh38]
Chr7:82997133 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.559T>C (p.Leu187=) single nucleotide variant not provided [RCV000952660] Chr7:83408479 [GRCh38]
Chr7:83037795 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.951C>G (p.Thr317=) single nucleotide variant CHARGE association [RCV000864353]|not provided [RCV003432802] Chr7:83405497 [GRCh38]
Chr7:83034813 [GRCh37]
Chr7:7q21.11		 benign|likely benign
NM_012431.3(SEMA3E):c.265G>A (p.Gly89Ser) single nucleotide variant CHARGE association [RCV001226131]|SEMA3E-related condition [RCV003963135] Chr7:83490125 [GRCh38]
Chr7:83119441 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.475G>C (p.Glu159Gln) single nucleotide variant CHARGE association [RCV001218928] Chr7:83418465 [GRCh38]
Chr7:83047781 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1411A>G (p.Met471Val) single nucleotide variant CHARGE association [RCV001226938] Chr7:83396685 [GRCh38]
Chr7:83026001 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.999-3C>T single nucleotide variant CHARGE association [RCV001227350] Chr7:83402779 [GRCh38]
Chr7:83032095 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.320T>A (p.Met107Lys) single nucleotide variant CHARGE association [RCV001037207]|CHARGE association [RCV002497360] Chr7:83469259 [GRCh38]
Chr7:83098575 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.615C>T (p.Ser205=) single nucleotide variant CHARGE association [RCV001241557] Chr7:83408423 [GRCh38]
Chr7:83037739 [GRCh37]
Chr7:7q21.11		 likely benign|uncertain significance
NM_012431.3(SEMA3E):c.1309G>A (p.Ala437Thr) single nucleotide variant CHARGE association [RCV001244200]|SEMA3E-related condition [RCV003393912] Chr7:83400085 [GRCh38]
Chr7:83029401 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.277-281C>T single nucleotide variant not provided [RCV001539482] Chr7:83469583 [GRCh38]
Chr7:83098899 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.1143+41A>G single nucleotide variant CHARGE association [RCV001807477]|not provided [RCV001657061] Chr7:83402591 [GRCh38]
Chr7:83031907 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.1500+247A>G single nucleotide variant not provided [RCV001637360] Chr7:83394050 [GRCh38]
Chr7:83023366 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.1367-231A>C single nucleotide variant not provided [RCV001565393] Chr7:83396960 [GRCh38]
Chr7:83026276 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.*227T>C single nucleotide variant not provided [RCV001563256] Chr7:83367359 [GRCh38]
Chr7:82996675 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.337-51G>T single nucleotide variant not provided [RCV001693611] Chr7:83466652 [GRCh38]
Chr7:83095968 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.-164C>A single nucleotide variant not provided [RCV001558833] Chr7:83648706 [GRCh38]
Chr7:83278022 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.*256T>C single nucleotide variant not provided [RCV001641311] Chr7:83367330 [GRCh38]
Chr7:82996646 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.551-154C>T single nucleotide variant not provided [RCV001682162] Chr7:83408641 [GRCh38]
Chr7:83037957 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.115+317T>C single nucleotide variant not provided [RCV001568682] Chr7:83648111 [GRCh38]
Chr7:83277427 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1458+113C>A single nucleotide variant not provided [RCV001565878] Chr7:83396525 [GRCh38]
Chr7:83025841 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1459-313T>C single nucleotide variant not provided [RCV001566363] Chr7:83394651 [GRCh38]
Chr7:83023967 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1367-95G>A single nucleotide variant not provided [RCV001576547] Chr7:83396824 [GRCh38]
Chr7:83026140 [GRCh37]
Chr7:7q21.11		 likely benign
GRCh37/hg19 7q21.11(chr7:82653019-83691163)x3 copy number gain not provided [RCV001005982] Chr7:82653019..83691163 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.928+189G>T single nucleotide variant not provided [RCV001675502] Chr7:83405756 [GRCh38]
Chr7:83035072 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.277-176G>A single nucleotide variant not provided [RCV001688461] Chr7:83469478 [GRCh38]
Chr7:83098794 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.1876-171G>C single nucleotide variant not provided [RCV001639044] Chr7:83368209 [GRCh38]
Chr7:82997525 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.-341del deletion not provided [RCV001639630] Chr7:83648883 [GRCh38]
Chr7:83278199 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.1876-171GA[6] microsatellite not provided [RCV001638817] Chr7:83368194..83368197 [GRCh38]
Chr7:82997510..82997513 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.116-314A>G single nucleotide variant not provided [RCV001619286] Chr7:83490588 [GRCh38]
Chr7:83119904 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.1876-257_1876-253del deletion not provided [RCV001617023] Chr7:83368291..83368295 [GRCh38]
Chr7:82997607..82997611 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.*61AAAT[3] microsatellite not provided [RCV001639401] Chr7:83367517..83367518 [GRCh38]
Chr7:82996833..82996834 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.1667+288C>A single nucleotide variant not provided [RCV001696669] Chr7:83392267 [GRCh38]
Chr7:83021583 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.2034C>T (p.Val678=) single nucleotide variant CHARGE association [RCV002502003]|CHARGE association [RCV003603100]|not specified [RCV001663538] Chr7:83367880 [GRCh38]
Chr7:82997196 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.813+215C>G single nucleotide variant not provided [RCV001657537] Chr7:83406882 [GRCh38]
Chr7:83036198 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.1668-172A>G single nucleotide variant not provided [RCV001686953] Chr7:83387222 [GRCh38]
Chr7:83016538 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.337-38T>C single nucleotide variant CHARGE association [RCV001807509]|not provided [RCV001687361] Chr7:83466639 [GRCh38]
Chr7:83095955 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.1876-171GA[7] microsatellite not provided [RCV001638309] Chr7:83368194..83368195 [GRCh38]
Chr7:82997510..82997511 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.999-95A>G single nucleotide variant not provided [RCV001674209] Chr7:83402871 [GRCh38]
Chr7:83032187 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.929-64A>C single nucleotide variant not provided [RCV001694022] Chr7:83405583 [GRCh38]
Chr7:83034899 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.1143+153T>C single nucleotide variant not provided [RCV001698708] Chr7:83402479 [GRCh38]
Chr7:83031795 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.2053G>A (p.Asp685Asn) single nucleotide variant CHARGE association [RCV001228416]|CHARGE association [RCV002497775]|SEMA3E-related condition [RCV003918787] Chr7:83367861 [GRCh38]
Chr7:82997177 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1048C>T (p.Arg350Trp) single nucleotide variant CHARGE association [RCV001035750]|CHARGE association [RCV002479233] Chr7:83402727 [GRCh38]
Chr7:83032043 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.955G>A (p.Asp319Asn) single nucleotide variant CHARGE association [RCV001069968] Chr7:83405493 [GRCh38]
Chr7:83034809 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.115+44del deletion not provided [RCV001694203] Chr7:83648384 [GRCh38]
Chr7:83277700 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.1144-180G>A single nucleotide variant not provided [RCV001583125] Chr7:83400430 [GRCh38]
Chr7:83029746 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.-340C>T single nucleotide variant not provided [RCV001590497] Chr7:83648882 [GRCh38]
Chr7:83278198 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.813+192C>T single nucleotide variant not provided [RCV001652708] Chr7:83406905 [GRCh38]
Chr7:83036221 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.1876-199CA[13] microsatellite not provided [RCV001708723] Chr7:83368210..83368211 [GRCh38]
Chr7:82997526..82997527 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.1733T>C (p.Val578Ala) single nucleotide variant CHARGE association [RCV001069572] Chr7:83386985 [GRCh38]
Chr7:83016301 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.116-86G>A single nucleotide variant not provided [RCV001609769] Chr7:83490360 [GRCh38]
Chr7:83119676 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.1876-173_1876-166del deletion not provided [RCV001612274] Chr7:83368204..83368211 [GRCh38]
Chr7:82997520..82997527 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.1667+69_1667+71del deletion not provided [RCV001648201] Chr7:83392484..83392486 [GRCh38]
Chr7:83021800..83021802 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.550+265G>T single nucleotide variant not provided [RCV001690337] Chr7:83418125 [GRCh38]
Chr7:83047441 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.336+147A>C single nucleotide variant not provided [RCV001588073] Chr7:83469096 [GRCh38]
Chr7:83098412 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1667+70_1667+71del deletion not provided [RCV001692810] Chr7:83392484..83392485 [GRCh38]
Chr7:83021800..83021801 [GRCh37]
Chr7:7q21.11		 benign
NC_000007.14:g.83649284G>A single nucleotide variant not provided [RCV001648605] Chr7:83649284 [GRCh38]
Chr7:83278600 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.671-306C>T single nucleotide variant not provided [RCV001682328] Chr7:83407545 [GRCh38]
Chr7:83036861 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.457-84C>T single nucleotide variant not provided [RCV001682348] Chr7:83418567 [GRCh38]
Chr7:83047883 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.277-78A>T single nucleotide variant not provided [RCV001681594] Chr7:83469380 [GRCh38]
Chr7:83098696 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.1668-299_1668-297del microsatellite not provided [RCV001690772] Chr7:83387347..83387349 [GRCh38]
Chr7:83016663..83016665 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.5C>G (p.Ala2Gly) single nucleotide variant CHARGE association [RCV001048742]|SEMA3E-related condition [RCV003413844]|not provided [RCV001759976] Chr7:83648538 [GRCh38]
Chr7:83277854 [GRCh37]
Chr7:7q21.11		 likely benign|uncertain significance
NM_012431.3(SEMA3E):c.1367-245A>G single nucleotide variant not provided [RCV001666603] Chr7:83396974 [GRCh38]
Chr7:83026290 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.1876-235T>C single nucleotide variant not provided [RCV001537344] Chr7:83368273 [GRCh38]
Chr7:82997589 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.321G>A (p.Met107Ile) single nucleotide variant CHARGE association [RCV001047095] Chr7:83469258 [GRCh38]
Chr7:83098574 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1500G>T (p.Arg500=) single nucleotide variant CHARGE association [RCV001042267]|SEMA3E-related condition [RCV003945787] Chr7:83394297 [GRCh38]
Chr7:83023613 [GRCh37]
Chr7:7q21.11		 likely benign|uncertain significance
NM_012431.3(SEMA3E):c.1076A>T (p.His359Leu) single nucleotide variant CHARGE association [RCV001061159] Chr7:83402699 [GRCh38]
Chr7:83032015 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1753A>G (p.Thr585Ala) single nucleotide variant CHARGE association [RCV001235015] Chr7:83385416 [GRCh38]
Chr7:83014732 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.196T>C (p.Tyr66His) single nucleotide variant CHARGE association [RCV001057730]|CHARGE association [RCV002482021]|Inborn genetic diseases [RCV002553371] Chr7:83490194 [GRCh38]
Chr7:83119510 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.796G>A (p.Val266Ile) single nucleotide variant CHARGE association [RCV001054028] Chr7:83407114 [GRCh38]
Chr7:83036430 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.447T>A (p.Tyr149Ter) single nucleotide variant CHARGE association [RCV001054029] Chr7:83466491 [GRCh38]
Chr7:83095807 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1290A>T (p.Lys430Asn) single nucleotide variant CHARGE association [RCV001054873]|CHARGE association [RCV002497423]|SEMA3E-related condition [RCV003963016] Chr7:83400104 [GRCh38]
Chr7:83029420 [GRCh37]
Chr7:7q21.11		 likely benign|uncertain significance
NM_012431.3(SEMA3E):c.371A>G (p.His124Arg) single nucleotide variant CHARGE association [RCV001059620] Chr7:83466567 [GRCh38]
Chr7:83095883 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.149A>G (p.His50Arg) single nucleotide variant CHARGE association [RCV001211428]|not provided [RCV001776145] Chr7:83490241 [GRCh38]
Chr7:83119557 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1172A>T (p.Tyr391Phe) single nucleotide variant CHARGE association [RCV001037725]|CHARGE association [RCV002479243]|SEMA3E-related condition [RCV003953435]|not provided [RCV001776097] Chr7:83400222 [GRCh38]
Chr7:83029538 [GRCh37]
Chr7:7q21.11		 likely benign|uncertain significance
NM_012431.3(SEMA3E):c.2208T>G (p.Asp736Glu) single nucleotide variant CHARGE association [RCV001063404] Chr7:83367706 [GRCh38]
Chr7:82997022 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.869C>T (p.Ala290Val) single nucleotide variant CHARGE association [RCV001228915]|not provided [RCV003490141] Chr7:83406004 [GRCh38]
Chr7:83035320 [GRCh37]
Chr7:7q21.11		 uncertain significance
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_012431.3(SEMA3E):c.1668-119T>C single nucleotide variant not provided [RCV001642051] Chr7:83387169 [GRCh38]
Chr7:83016485 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.551-304T>C single nucleotide variant not provided [RCV001662987] Chr7:83408791 [GRCh38]
Chr7:83038107 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.1876-274C>T single nucleotide variant not provided [RCV001567986] Chr7:83368312 [GRCh38]
Chr7:82997628 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1892G>A (p.Arg631Lys) single nucleotide variant CHARGE association [RCV001304857]|SEMA3E-related condition [RCV003908510] Chr7:83368022 [GRCh38]
Chr7:82997338 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.445T>C (p.Tyr149His) single nucleotide variant CHARGE association [RCV001295376] Chr7:83466493 [GRCh38]
Chr7:83095809 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.2027A>G (p.Glu676Gly) single nucleotide variant CHARGE association [RCV001352581] Chr7:83367887 [GRCh38]
Chr7:82997203 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1905G>A (p.Met635Ile) single nucleotide variant CHARGE association [RCV001332963] Chr7:83368009 [GRCh38]
Chr7:82997325 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.2057A>T (p.Asp686Val) single nucleotide variant CHARGE association [RCV001300852] Chr7:83367857 [GRCh38]
Chr7:82997173 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1144T>C (p.Cys382Arg) single nucleotide variant CHARGE association [RCV001362362] Chr7:83400250 [GRCh38]
Chr7:83029566 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1459G>A (p.Asp487Asn) single nucleotide variant not provided [RCV001312126] Chr7:83394338 [GRCh38]
Chr7:83023654 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1500+5G>A single nucleotide variant CHARGE association [RCV001307697]|CHARGE association [RCV002499585] Chr7:83394292 [GRCh38]
Chr7:83023608 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.155C>G (p.Pro52Arg) single nucleotide variant CHARGE association [RCV001348395]|CHARGE association [RCV002476603]|SEMA3E-related condition [RCV003405581]|not provided [RCV001762593] Chr7:83490235 [GRCh38]
Chr7:83119551 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1856G>A (p.Arg619His) single nucleotide variant CHARGE association [RCV001360494]|CHARGE association [RCV002486508]|SEMA3E-related condition [RCV003416260] Chr7:83385313 [GRCh38]
Chr7:83014629 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1443A>T (p.Glu481Asp) single nucleotide variant CHARGE association [RCV001362865] Chr7:83396653 [GRCh38]
Chr7:83025969 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.456+125C>T single nucleotide variant not provided [RCV001581511] Chr7:83466357 [GRCh38]
Chr7:83095673 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.2303dup (p.Pro769fs) duplication CHARGE association [RCV001369283] Chr7:83367610..83367611 [GRCh38]
Chr7:82996926..82996927 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1346A>T (p.Asp449Val) single nucleotide variant CHARGE association [RCV001303366] Chr7:83400048 [GRCh38]
Chr7:83029364 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1480A>G (p.Met494Val) single nucleotide variant CHARGE association [RCV001338744] Chr7:83394317 [GRCh38]
Chr7:83023633 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.566C>T (p.Ala189Val) single nucleotide variant CHARGE association [RCV001323311] Chr7:83408472 [GRCh38]
Chr7:83037788 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.479C>T (p.Ser160Leu) single nucleotide variant CHARGE association [RCV001361717]|Inborn genetic diseases [RCV002547780]|SEMA3E-related condition [RCV003399163]|not provided [RCV001529257] Chr7:83418461 [GRCh38]
Chr7:83047777 [GRCh37]
Chr7:7q21.11		 likely benign|uncertain significance
NM_012431.3(SEMA3E):c.2279G>A (p.Arg760His) single nucleotide variant CHARGE association [RCV001370745]|CHARGE association [RCV002499761] Chr7:83367635 [GRCh38]
Chr7:82996951 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1739A>T (p.Asp580Val) single nucleotide variant CHARGE association [RCV001327072]|Inborn genetic diseases [RCV002546209] Chr7:83385430 [GRCh38]
Chr7:83014746 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.603_604inv (p.Ile202Leu) inversion CHARGE association [RCV001341627] Chr7:83408434..83408435 [GRCh38]
Chr7:83037750..83037751 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.355G>C (p.Val119Leu) single nucleotide variant CHARGE association [RCV001373284]|CHARGE association [RCV002499766]|Inborn genetic diseases [RCV003246962]|not provided [RCV001762652] Chr7:83466583 [GRCh38]
Chr7:83095899 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1709A>T (p.Gln570Leu) single nucleotide variant CHARGE association [RCV001366165] Chr7:83387009 [GRCh38]
Chr7:83016325 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1457A>T (p.Lys486Met) single nucleotide variant CHARGE association [RCV001295783] Chr7:83396639 [GRCh38]
Chr7:83025955 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.671-7C>T single nucleotide variant CHARGE association [RCV001494772] Chr7:83407246 [GRCh38]
Chr7:83036562 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1337G>A (p.Gly446Asp) single nucleotide variant CHARGE association [RCV001339480] Chr7:83400057 [GRCh38]
Chr7:83029373 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.2302C>T (p.Leu768=) single nucleotide variant CHARGE association [RCV001438388] Chr7:83367612 [GRCh38]
Chr7:82996928 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.798C>T (p.Val266=) single nucleotide variant CHARGE association [RCV001454566] Chr7:83407112 [GRCh38]
Chr7:83036428 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.570A>T (p.Gly190=) single nucleotide variant CHARGE association [RCV001492637]|SEMA3E-related condition [RCV003921036] Chr7:83408468 [GRCh38]
Chr7:83037784 [GRCh37]
Chr7:7q21.11		 likely benign|uncertain significance
NM_012431.3(SEMA3E):c.670+12G>A single nucleotide variant CHARGE association [RCV001505377] Chr7:83408356 [GRCh38]
Chr7:83037672 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.15G>A (p.Gly5=) single nucleotide variant CHARGE association [RCV001400972]|CHARGE association [RCV002499848]|SEMA3E-related condition [RCV003953723]|not provided [RCV001587397] Chr7:83648528 [GRCh38]
Chr7:83277844 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1944T>C (p.Asp648=) single nucleotide variant CHARGE association [RCV001497910] Chr7:83367970 [GRCh38]
Chr7:82997286 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1827G>A (p.Ala609=) single nucleotide variant CHARGE association [RCV001440758] Chr7:83385342 [GRCh38]
Chr7:83014658 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1875+93T>C single nucleotide variant not provided [RCV001539685] Chr7:83385201 [GRCh38]
Chr7:83014517 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.780C>T (p.His260=) single nucleotide variant CHARGE association [RCV001393031]|SEMA3E-related condition [RCV003953701] Chr7:83407130 [GRCh38]
Chr7:83036446 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.116-15C>T single nucleotide variant CHARGE association [RCV001446477] Chr7:83490289 [GRCh38]
Chr7:83119605 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1667+7C>T single nucleotide variant CHARGE association [RCV001429076]|SEMA3E-related condition [RCV003900475] Chr7:83392548 [GRCh38]
Chr7:83021864 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.867A>G (p.Lys289=) single nucleotide variant CHARGE association [RCV001431467] Chr7:83406006 [GRCh38]
Chr7:83035322 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1668-167T>C single nucleotide variant not provided [RCV001533959] Chr7:83387217 [GRCh38]
Chr7:83016533 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.-355T>C single nucleotide variant not provided [RCV001534963] Chr7:83648897 [GRCh38]
Chr7:83278213 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.123G>A (p.Leu41=) single nucleotide variant CHARGE association [RCV001393787] Chr7:83490267 [GRCh38]
Chr7:83119583 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1144-176C>A single nucleotide variant not provided [RCV001652867] Chr7:83400426 [GRCh38]
Chr7:83029742 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.1667+68_1667+71del deletion not provided [RCV001673322] Chr7:83392484..83392487 [GRCh38]
Chr7:83021800..83021803 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.1876-171GA[5] microsatellite not provided [RCV001673549] Chr7:83368194..83368199 [GRCh38]
Chr7:82997510..82997515 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.456+205C>T single nucleotide variant not provided [RCV001688447] Chr7:83466277 [GRCh38]
Chr7:83095593 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.1144-73T>G single nucleotide variant not provided [RCV001715551] Chr7:83400323 [GRCh38]
Chr7:83029639 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.336+232T>C single nucleotide variant not provided [RCV001614854] Chr7:83469011 [GRCh38]
Chr7:83098327 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.*71T>A single nucleotide variant not provided [RCV001715682] Chr7:83367515 [GRCh38]
Chr7:82996831 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.1458+174C>T single nucleotide variant not provided [RCV001593568] Chr7:83396464 [GRCh38]
Chr7:83025780 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1501-179A>G single nucleotide variant not provided [RCV001707431] Chr7:83392900 [GRCh38]
Chr7:83022216 [GRCh37]
Chr7:7q21.11		 benign
NC_000007.14:g.83649293C>A single nucleotide variant not provided [RCV001586927] Chr7:83649293 [GRCh38]
Chr7:83278609 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.928+84C>T single nucleotide variant not provided [RCV001618111] Chr7:83405861 [GRCh38]
Chr7:83035177 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.*196T>A single nucleotide variant not provided [RCV001618985] Chr7:83367390 [GRCh38]
Chr7:82996706 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.2070G>A (p.Arg690=) single nucleotide variant CHARGE association [RCV001476391] Chr7:83367844 [GRCh38]
Chr7:82997160 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1736-264T>A single nucleotide variant not provided [RCV001619179] Chr7:83385697 [GRCh38]
Chr7:83015013 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.-369del deletion not provided [RCV001665344] Chr7:83648911 [GRCh38]
Chr7:83278227 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.1366+41C>T single nucleotide variant not provided [RCV001673373] Chr7:83399987 [GRCh38]
Chr7:83029303 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.276+3966C>G single nucleotide variant CHARGE association [RCV001521888] Chr7:83486148 [GRCh38]
Chr7:83115464 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.1144-73T>A single nucleotide variant not provided [RCV001537252] Chr7:83400323 [GRCh38]
Chr7:83029639 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.1459-245_1459-244insCAGAGA insertion not provided [RCV001696255] Chr7:83394582..83394583 [GRCh38]
Chr7:83023898..83023899 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.1668-48C>T single nucleotide variant not provided [RCV001616193] Chr7:83387098 [GRCh38]
Chr7:83016414 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.1366+85G>A single nucleotide variant not provided [RCV001696573] Chr7:83399943 [GRCh38]
Chr7:83029259 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.550+121T>G single nucleotide variant not provided [RCV001618032] Chr7:83418269 [GRCh38]
Chr7:83047585 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.1736-189G>C single nucleotide variant not provided [RCV001686122] Chr7:83385622 [GRCh38]
Chr7:83014938 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.277-284G>T single nucleotide variant not provided [RCV001592425] Chr7:83469586 [GRCh38]
Chr7:83098902 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.930G>A (p.Glu310=) single nucleotide variant CHARGE association [RCV001489446] Chr7:83405518 [GRCh38]
Chr7:83034834 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1366+64A>C single nucleotide variant not provided [RCV001610169] Chr7:83399964 [GRCh38]
Chr7:83029280 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.277-240A>G single nucleotide variant not provided [RCV001540794] Chr7:83469542 [GRCh38]
Chr7:83098858 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.1221T>C (p.Ser407=) single nucleotide variant CHARGE association [RCV001470095] Chr7:83400173 [GRCh38]
Chr7:83029489 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.551-6G>A single nucleotide variant CHARGE association [RCV001513292] Chr7:83408493 [GRCh38]
Chr7:83037809 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.1320A>G (p.Arg440=) single nucleotide variant CHARGE association [RCV001423759] Chr7:83400074 [GRCh38]
Chr7:83029390 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.339T>C (p.Gly113=) single nucleotide variant CHARGE association [RCV001443597] Chr7:83466599 [GRCh38]
Chr7:83095915 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1668-10T>G single nucleotide variant CHARGE association [RCV001404895]|CHARGE association [RCV002499864] Chr7:83387060 [GRCh38]
Chr7:83016376 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.267C>T (p.Gly89=) single nucleotide variant CHARGE association [RCV001437572]|SEMA3E-related condition [RCV003965843] Chr7:83490123 [GRCh38]
Chr7:83119439 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.-268G>A single nucleotide variant not provided [RCV001538302] Chr7:83648810 [GRCh38]
Chr7:83278126 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.*46A>C single nucleotide variant not provided [RCV001527814] Chr7:83367540 [GRCh38]
Chr7:82996856 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.1144-67T>C single nucleotide variant not provided [RCV001527877] Chr7:83400317 [GRCh38]
Chr7:83029633 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.642T>G (p.Thr214=) single nucleotide variant CHARGE association [RCV001401039] Chr7:83408396 [GRCh38]
Chr7:83037712 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.600T>G (p.Ala200=) single nucleotide variant CHARGE association [RCV002105816] Chr7:83408438 [GRCh38]
Chr7:83037754 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1220G>A (p.Ser407Asn) single nucleotide variant CHARGE association [RCV003497939]|not provided [RCV001768210] Chr7:83400174 [GRCh38]
Chr7:83029490 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1511A>T (p.Tyr504Phe) single nucleotide variant not provided [RCV001768288] Chr7:83392711 [GRCh38]
Chr7:83022027 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1955A>G (p.Tyr652Cys) single nucleotide variant not provided [RCV001768365] Chr7:83367959 [GRCh38]
Chr7:82997275 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.337-11dup duplication CHARGE association [RCV002074083]|not provided [RCV001786248] Chr7:83466611..83466612 [GRCh38]
Chr7:83095927..83095928 [GRCh37]
Chr7:7q21.11		 benign|likely benign
NM_012431.3(SEMA3E):c.934G>A (p.Val312Ile) single nucleotide variant not provided [RCV001768063] Chr7:83405514 [GRCh38]
Chr7:83034830 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1459-12_1459-11del deletion CHARGE association [RCV003497938]|not provided [RCV001758895] Chr7:83394349..83394350 [GRCh38]
Chr7:83023665..83023666 [GRCh37]
Chr7:7q21.11		 likely benign|uncertain significance
NM_012431.3(SEMA3E):c.1367-7C>T single nucleotide variant CHARGE association [RCV002074107]|not provided [RCV001787470] Chr7:83396736 [GRCh38]
Chr7:83026052 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1969G>A (p.Val657Ile) single nucleotide variant SEMA3E-related condition [RCV003407799]|not provided [RCV001757439] Chr7:83367945 [GRCh38]
Chr7:82997261 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1480A>T (p.Met494Leu) single nucleotide variant not provided [RCV001797296] Chr7:83394317 [GRCh38]
Chr7:83023633 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.58T>C (p.Trp20Arg) single nucleotide variant CHARGE association [RCV002034529]|Inborn genetic diseases [RCV002541085]|not provided [RCV001777007] Chr7:83648485 [GRCh38]
Chr7:83277801 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1741G>T (p.Ala581Ser) single nucleotide variant not provided [RCV001757385] Chr7:83385428 [GRCh38]
Chr7:83014744 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.652G>A (p.Asp218Asn) single nucleotide variant not provided [RCV001776875] Chr7:83408386 [GRCh38]
Chr7:83037702 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1630T>C (p.Cys544Arg) single nucleotide variant CHARGE association [RCV002506818]|CHARGE association [RCV003603108]|not provided [RCV001776914] Chr7:83392592 [GRCh38]
Chr7:83021908 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.517G>T (p.Asp173Tyr) single nucleotide variant CHARGE association [RCV002009389] Chr7:83418423 [GRCh38]
Chr7:83047739 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1322T>C (p.Val441Ala) single nucleotide variant CHARGE association [RCV002024791] Chr7:83400072 [GRCh38]
Chr7:83029388 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1120G>A (p.Val374Ile) single nucleotide variant CHARGE association [RCV002025849] Chr7:83402655 [GRCh38]
Chr7:83031971 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.793A>G (p.Arg265Gly) single nucleotide variant CHARGE association [RCV001912394] Chr7:83407117 [GRCh38]
Chr7:83036433 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.344G>A (p.Cys115Tyr) single nucleotide variant CHARGE association [RCV001929756] Chr7:83466594 [GRCh38]
Chr7:83095910 [GRCh37]
Chr7:7q21.11		 uncertain significance
GRCh37/hg19 7q21.11(chr7:82958543-84062357)x3 copy number gain not provided [RCV001829125] Chr7:82958543..84062357 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1754C>A (p.Thr585Asn) single nucleotide variant CHARGE association [RCV001966672] Chr7:83385415 [GRCh38]
Chr7:83014731 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.249G>T (p.Leu83Phe) single nucleotide variant CHARGE association [RCV002043174] Chr7:83490141 [GRCh38]
Chr7:83119457 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1214C>T (p.Ala405Val) single nucleotide variant CHARGE association [RCV001928494] Chr7:83400180 [GRCh38]
Chr7:83029496 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1296C>A (p.Asn432Lys) single nucleotide variant CHARGE association [RCV001983972]|CHARGE association [RCV002486574]|Inborn genetic diseases [RCV002608086] Chr7:83400098 [GRCh38]
Chr7:83029414 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.266G>A (p.Gly89Asp) single nucleotide variant CHARGE association [RCV001947651]|CHARGE association [RCV002484497]|Inborn genetic diseases [RCV002556411]|SEMA3E-related condition [RCV003968631] Chr7:83490124 [GRCh38]
Chr7:83119440 [GRCh37]
Chr7:7q21.11		 likely benign|uncertain significance
NM_012431.3(SEMA3E):c.1171T>C (p.Tyr391His) single nucleotide variant CHARGE association [RCV001911808] Chr7:83400223 [GRCh38]
Chr7:83029539 [GRCh37]
Chr7:7q21.11		 uncertain significance
GRCh37/hg19 7q21.11-21.3(chr7:77821356-93340137) copy number gain not specified [RCV002053701] Chr7:77821356..93340137 [GRCh37]
Chr7:7q21.11-21.3		 pathogenic
NM_012431.3(SEMA3E):c.1413G>A (p.Met471Ile) single nucleotide variant CHARGE association [RCV002003363] Chr7:83396683 [GRCh38]
Chr7:83025999 [GRCh37]
Chr7:7q21.11		 uncertain significance
GRCh37/hg19 7q21.11(chr7:82757837-83073851)x3 copy number gain not provided [RCV001833014] Chr7:82757837..83073851 [GRCh37]
Chr7:7q21.11		 uncertain significance
GRCh37/hg19 7q21.11(chr7:83190085-83390868) copy number loss not specified [RCV002053705] Chr7:83190085..83390868 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.337-1G>C single nucleotide variant CHARGE association [RCV001986926] Chr7:83466602 [GRCh38]
Chr7:83095918 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.814-10G>T single nucleotide variant CHARGE association [RCV001946735] Chr7:83406069 [GRCh38]
Chr7:83035385 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.659G>A (p.Arg220His) single nucleotide variant CHARGE association [RCV001945343]|CHARGE association [RCV002503586]|Inborn genetic diseases [RCV002556402] Chr7:83408379 [GRCh38]
Chr7:83037695 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.795G>T (p.Arg265Ser) single nucleotide variant CHARGE association [RCV001969012] Chr7:83407115 [GRCh38]
Chr7:83036431 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.336G>A (p.Ala112=) single nucleotide variant CHARGE association [RCV002006677] Chr7:83469243 [GRCh38]
Chr7:83098559 [GRCh37]
Chr7:7q21.11		 uncertain significance
GRCh37/hg19 7q11.23-21.11(chr7:77310644-84461089) copy number loss not specified [RCV002053699] Chr7:77310644..84461089 [GRCh37]
Chr7:7q11.23-21.11		 pathogenic
NM_012431.3(SEMA3E):c.1893A>C (p.Arg631Ser) single nucleotide variant CHARGE association [RCV001947443]|SEMA3E-related condition [RCV003416517]|not provided [RCV003487814] Chr7:83368021 [GRCh38]
Chr7:82997337 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1667+3G>A single nucleotide variant CHARGE association [RCV001892067] Chr7:83392552 [GRCh38]
Chr7:83021868 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.621del (p.Arg208fs) deletion CHARGE association [RCV001824193]|not provided [RCV003152637] Chr7:83408417 [GRCh38]
Chr7:83037733 [GRCh37]
Chr7:7q21.11		 likely pathogenic|uncertain significance
NM_012431.3(SEMA3E):c.603_604delinsTG (p.Ile202Val) indel CHARGE association [RCV002038838] Chr7:83408434..83408435 [GRCh38]
Chr7:83037750..83037751 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.352T>C (p.Tyr118His) single nucleotide variant CHARGE association [RCV002001212] Chr7:83466586 [GRCh38]
Chr7:83095902 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1876G>A (p.Val626Met) single nucleotide variant CHARGE association [RCV002038572]|SEMA3E-related condition [RCV003403652] Chr7:83368038 [GRCh38]
Chr7:82997354 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.2159G>C (p.Ser720Thr) single nucleotide variant CHARGE association [RCV001944323]|CHARGE association [RCV002507625] Chr7:83367755 [GRCh38]
Chr7:82997071 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1992G>A (p.Thr664=) single nucleotide variant CHARGE association [RCV001941460] Chr7:83367922 [GRCh38]
Chr7:82997238 [GRCh37]
Chr7:7q21.11		 likely benign|uncertain significance
NM_012431.3(SEMA3E):c.616A>G (p.Met206Val) single nucleotide variant CHARGE association [RCV001886663]|SEMA3E-related condition [RCV003913436] Chr7:83408422 [GRCh38]
Chr7:83037738 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.335C>T (p.Ala112Val) single nucleotide variant CHARGE association [RCV001938045]|CHARGE association [RCV002490247] Chr7:83469244 [GRCh38]
Chr7:83098560 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.94C>T (p.Arg32Trp) single nucleotide variant CHARGE association [RCV001937700] Chr7:83648449 [GRCh38]
Chr7:83277765 [GRCh37]
Chr7:7q21.11		 uncertain significance
NC_000007.13:g.(?_83047686)_(83047819_?)dup duplication CHARGE association [RCV001943032] Chr7:83047686..83047819 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.781G>A (p.Ala261Thr) single nucleotide variant CHARGE association [RCV002029445]|CHARGE association [RCV002486717] Chr7:83407129 [GRCh38]
Chr7:83036445 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.122T>C (p.Leu41Ser) single nucleotide variant CHARGE association [RCV002010242] Chr7:83490268 [GRCh38]
Chr7:83119584 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.233T>C (p.Val78Ala) single nucleotide variant CHARGE association [RCV001881583]|CHARGE association [RCV002490127]|Inborn genetic diseases [RCV002554112] Chr7:83490157 [GRCh38]
Chr7:83119473 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1177A>T (p.Thr393Ser) single nucleotide variant CHARGE association [RCV001989874]|CHARGE association [RCV002479567]|SEMA3E-related condition [RCV003923389] Chr7:83400217 [GRCh38]
Chr7:83029533 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1997G>A (p.Arg666His) single nucleotide variant CHARGE association [RCV001899443] Chr7:83367917 [GRCh38]
Chr7:82997233 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1313T>C (p.Val438Ala) single nucleotide variant CHARGE association [RCV001994003] Chr7:83400081 [GRCh38]
Chr7:83029397 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.2054A>G (p.Asp685Gly) single nucleotide variant CHARGE association [RCV001882344]|CHARGE association [RCV002490153] Chr7:83367860 [GRCh38]
Chr7:82997176 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1147G>T (p.Ala383Ser) single nucleotide variant CHARGE association [RCV002050918]|CHARGE association [RCV002478100] Chr7:83400247 [GRCh38]
Chr7:83029563 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1826C>G (p.Ala609Gly) single nucleotide variant CHARGE association [RCV001975840] Chr7:83385343 [GRCh38]
Chr7:83014659 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1009C>T (p.Arg337Ter) single nucleotide variant CHARGE association [RCV001972019]|CHARGE association [RCV002479483] Chr7:83402766 [GRCh38]
Chr7:83032082 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.754G>T (p.Ala252Ser) single nucleotide variant CHARGE association [RCV001880766] Chr7:83407156 [GRCh38]
Chr7:83036472 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.289A>T (p.Ser97Cys) single nucleotide variant CHARGE association [RCV001897645]|SEMA3E-related condition [RCV003401827] Chr7:83469290 [GRCh38]
Chr7:83098606 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.999-10T>C single nucleotide variant CHARGE association [RCV001940288]|CHARGE association [RCV002503607]|SEMA3E-related condition [RCV003892184] Chr7:83402786 [GRCh38]
Chr7:83032102 [GRCh37]
Chr7:7q21.11		 likely benign|uncertain significance
NM_012431.3(SEMA3E):c.733T>G (p.Tyr245Asp) single nucleotide variant CHARGE association [RCV001973024] Chr7:83407177 [GRCh38]
Chr7:83036493 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.931G>A (p.Asp311Asn) single nucleotide variant CHARGE association [RCV001922700] Chr7:83405517 [GRCh38]
Chr7:83034833 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1900A>C (p.Lys634Gln) single nucleotide variant CHARGE association [RCV001954919] Chr7:83368014 [GRCh38]
Chr7:82997330 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.2234C>T (p.Ser745Leu) single nucleotide variant CHARGE association [RCV002026144] Chr7:83367680 [GRCh38]
Chr7:82996996 [GRCh37]
Chr7:7q21.11		 uncertain significance
NC_000007.13:g.(?_80276057)_(83739925_?)del deletion not provided [RCV001960659] Chr7:80276057..83739925 [GRCh37]
Chr7:7q21.11		 pathogenic
NM_012431.3(SEMA3E):c.1939T>G (p.Ser647Ala) single nucleotide variant CHARGE association [RCV001923099] Chr7:83367975 [GRCh38]
Chr7:82997291 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1009C>A (p.Arg337=) single nucleotide variant CHARGE association [RCV001924020]|SEMA3E-related condition [RCV003941208] Chr7:83402766 [GRCh38]
Chr7:83032082 [GRCh37]
Chr7:7q21.11		 likely benign|uncertain significance
NM_012431.3(SEMA3E):c.841G>A (p.Val281Met) single nucleotide variant CHARGE association [RCV001885748] Chr7:83406032 [GRCh38]
Chr7:83035348 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1233G>A (p.Met411Ile) single nucleotide variant CHARGE association [RCV001961068] Chr7:83400161 [GRCh38]
Chr7:83029477 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.551-3T>G single nucleotide variant CHARGE association [RCV001902446] Chr7:83408490 [GRCh38]
Chr7:83037806 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.2216G>A (p.Arg739Lys) single nucleotide variant CHARGE association [RCV001875484] Chr7:83367698 [GRCh38]
Chr7:82997014 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1522G>A (p.Ala508Thr) single nucleotide variant CHARGE association [RCV002011110]|SEMA3E-related condition [RCV003913484] Chr7:83392700 [GRCh38]
Chr7:83022016 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.2193A>G (p.Lys731=) single nucleotide variant CHARGE association [RCV002033921] Chr7:83367721 [GRCh38]
Chr7:82997037 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.789C>T (p.Tyr263=) single nucleotide variant CHARGE association [RCV002092894] Chr7:83407121 [GRCh38]
Chr7:83036437 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.671-19C>A single nucleotide variant CHARGE association [RCV002073534] Chr7:83407258 [GRCh38]
Chr7:83036574 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1876-5T>C single nucleotide variant CHARGE association [RCV002075797] Chr7:83368043 [GRCh38]
Chr7:82997359 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.998+10T>C single nucleotide variant CHARGE association [RCV002092380] Chr7:83405440 [GRCh38]
Chr7:83034756 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.116-16T>A single nucleotide variant CHARGE association [RCV002165736] Chr7:83490290 [GRCh38]
Chr7:83119606 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1144-19_1144-15del deletion CHARGE association [RCV002190029] Chr7:83400265..83400269 [GRCh38]
Chr7:83029581..83029585 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1251T>G (p.Pro417=) single nucleotide variant CHARGE association [RCV002186781] Chr7:83400143 [GRCh38]
Chr7:83029459 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.814-9T>C single nucleotide variant CHARGE association [RCV002187127] Chr7:83406068 [GRCh38]
Chr7:83035384 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.276+19G>C single nucleotide variant CHARGE association [RCV002092700] Chr7:83490095 [GRCh38]
Chr7:83119411 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1459-11dup duplication CHARGE association [RCV002126800] Chr7:83394348..83394349 [GRCh38]
Chr7:83023664..83023665 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.612C>T (p.Arg204=) single nucleotide variant CHARGE association [RCV002109058] Chr7:83408426 [GRCh38]
Chr7:83037742 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.999-16T>C single nucleotide variant CHARGE association [RCV002147737]|CHARGE association [RCV002508043] Chr7:83402792 [GRCh38]
Chr7:83032108 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.671-19C>T single nucleotide variant CHARGE association [RCV002071592] Chr7:83407258 [GRCh38]
Chr7:83036574 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1053A>G (p.Ala351=) single nucleotide variant CHARGE association [RCV002165278] Chr7:83402722 [GRCh38]
Chr7:83032038 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.814-18C>G single nucleotide variant CHARGE association [RCV002080920] Chr7:83406077 [GRCh38]
Chr7:83035393 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.551-4G>A single nucleotide variant CHARGE association [RCV002195774]|SEMA3E-related condition [RCV003973323] Chr7:83408491 [GRCh38]
Chr7:83037807 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1173C>T (p.Tyr391=) single nucleotide variant CHARGE association [RCV002097530] Chr7:83400221 [GRCh38]
Chr7:83029537 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1458+19A>G single nucleotide variant CHARGE association [RCV002129171] Chr7:83396619 [GRCh38]
Chr7:83025935 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.551-18A>G single nucleotide variant CHARGE association [RCV002212070] Chr7:83408505 [GRCh38]
Chr7:83037821 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1876-14T>A single nucleotide variant CHARGE association [RCV002114275] Chr7:83368052 [GRCh38]
Chr7:82997368 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.116-7A>T single nucleotide variant CHARGE association [RCV002078862] Chr7:83490281 [GRCh38]
Chr7:83119597 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1728G>A (p.Gln576=) single nucleotide variant CHARGE association [RCV002076201] Chr7:83386990 [GRCh38]
Chr7:83016306 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1736-13G>T single nucleotide variant CHARGE association [RCV002196882] Chr7:83385446 [GRCh38]
Chr7:83014762 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.551-17C>T single nucleotide variant CHARGE association [RCV002150682] Chr7:83408504 [GRCh38]
Chr7:83037820 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.651C>T (p.Asp217=) single nucleotide variant CHARGE association [RCV002149749]|CHARGE association [RCV002508037] Chr7:83408387 [GRCh38]
Chr7:83037703 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1732G>A (p.Val578Ile) single nucleotide variant CHARGE association [RCV002173107]|CHARGE association [RCV002494058]|SEMA3E-related condition [RCV003893138] Chr7:83386986 [GRCh38]
Chr7:83016302 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1875+15C>A single nucleotide variant CHARGE association [RCV002167072] Chr7:83385279 [GRCh38]
Chr7:83014595 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.693C>T (p.Tyr231=) single nucleotide variant CHARGE association [RCV002079894] Chr7:83407217 [GRCh38]
Chr7:83036533 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1914T>A (p.Gly638=) single nucleotide variant CHARGE association [RCV002150973] Chr7:83368000 [GRCh38]
Chr7:82997316 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1366+11G>A single nucleotide variant CHARGE association [RCV002078206]|CHARGE association [RCV002498283] Chr7:83400017 [GRCh38]
Chr7:83029333 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1383G>T (p.Leu461=) single nucleotide variant CHARGE association [RCV002115237] Chr7:83396713 [GRCh38]
Chr7:83026029 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.999-19T>C single nucleotide variant CHARGE association [RCV002196705] Chr7:83402795 [GRCh38]
Chr7:83032111 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.2151C>T (p.Ile717=) single nucleotide variant CHARGE association [RCV002173787]|CHARGE association [RCV002494330] Chr7:83367763 [GRCh38]
Chr7:82997079 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.999-12dup duplication CHARGE association [RCV002124676] Chr7:83402787..83402788 [GRCh38]
Chr7:83032103..83032104 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.1518A>C (p.Gly506=) single nucleotide variant CHARGE association [RCV002212869] Chr7:83392704 [GRCh38]
Chr7:83022020 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.576C>T (p.Tyr192=) single nucleotide variant CHARGE association [RCV002147089] Chr7:83408462 [GRCh38]
Chr7:83037778 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1459-17del deletion CHARGE association [RCV002159451] Chr7:83394355 [GRCh38]
Chr7:83023671 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.814-11G>T single nucleotide variant CHARGE association [RCV002135848] Chr7:83406070 [GRCh38]
Chr7:83035386 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.999-12T>C single nucleotide variant CHARGE association [RCV002118544]|CHARGE association [RCV002494398] Chr7:83402788 [GRCh38]
Chr7:83032104 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1668-18G>T single nucleotide variant CHARGE association [RCV002118922] Chr7:83387068 [GRCh38]
Chr7:83016384 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1668-16A>G single nucleotide variant CHARGE association [RCV002200389]|CHARGE association [RCV002507905] Chr7:83387066 [GRCh38]
Chr7:83016382 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1876-11T>C single nucleotide variant CHARGE association [RCV002138014] Chr7:83368049 [GRCh38]
Chr7:82997365 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1383G>A (p.Leu461=) single nucleotide variant CHARGE association [RCV002164093] Chr7:83396713 [GRCh38]
Chr7:83026029 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1239G>A (p.Gln413=) single nucleotide variant CHARGE association [RCV002198367] Chr7:83400155 [GRCh38]
Chr7:83029471 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.237T>C (p.Tyr79=) single nucleotide variant CHARGE association [RCV002200669] Chr7:83490153 [GRCh38]
Chr7:83119469 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1125T>G (p.Pro375=) single nucleotide variant CHARGE association [RCV002136542] Chr7:83402650 [GRCh38]
Chr7:83031966 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.5C>T (p.Ala2Val) single nucleotide variant CHARGE association [RCV003110462] Chr7:83648538 [GRCh38]
Chr7:83277854 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.2201G>C (p.Cys734Ser) single nucleotide variant CHARGE association [RCV003116210] Chr7:83367713 [GRCh38]
Chr7:82997029 [GRCh37]
Chr7:7q21.11		 uncertain significance
NC_000007.13:g.(?_83277724)_(83277858_?)del deletion CHARGE association [RCV003116598] Chr7:83277724..83277858 [GRCh37]
Chr7:7q21.11		 uncertain significance
NC_000007.13:g.(?_81331897)_(84751207_?)dup duplication CHARGE association [RCV003116599] Chr7:81331897..84751207 [GRCh37]
Chr7:7q21.11		 uncertain significance
NC_000007.13:g.(?_82996902)_(82997374_?)dup duplication CHARGE association [RCV003116600] Chr7:82996902..82997374 [GRCh37]
Chr7:7q21.11		 uncertain significance
NC_000007.13:g.(?_83047686)_(83119610_?)dup duplication CHARGE association [RCV003116601] Chr7:83047686..83119610 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.907G>C (p.Asp303His) single nucleotide variant CHARGE association [RCV003118552] Chr7:83405966 [GRCh38]
Chr7:83035282 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1010G>A (p.Arg337Gln) single nucleotide variant CHARGE association [RCV003497972]|not specified [RCV003123474] Chr7:83402765 [GRCh38]
Chr7:83032081 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.2106C>G (p.Ile702Met) single nucleotide variant CHARGE association [RCV002254833] Chr7:83367808 [GRCh38]
Chr7:82997124 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1873G>A (p.Glu625Lys) single nucleotide variant Dilated cardiomyopathy 1A [RCV002259536] Chr7:83385296 [GRCh38]
Chr7:83014612 [GRCh37]
Chr7:7q21.11		 likely pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
NM_012431.3(SEMA3E):c.287C>A (p.Pro96Gln) single nucleotide variant CHARGE association [RCV003872609] Chr7:83469292 [GRCh38]
Chr7:83098608 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1307T>C (p.Ile436Thr) single nucleotide variant not provided [RCV002261822] Chr7:83400087 [GRCh38]
Chr7:83029403 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.956A>G (p.Asp319Gly) single nucleotide variant CHARGE association [RCV002301850] Chr7:83405492 [GRCh38]
Chr7:83034808 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.336+14A>G single nucleotide variant CHARGE association [RCV003015790] Chr7:83469229 [GRCh38]
Chr7:83098545 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1565A>G (p.Tyr522Cys) single nucleotide variant CHARGE association [RCV002995827] Chr7:83392657 [GRCh38]
Chr7:83021973 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1393A>C (p.Thr465Pro) single nucleotide variant CHARGE association [RCV003014381] Chr7:83396703 [GRCh38]
Chr7:83026019 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1548C>A (p.Phe516Leu) single nucleotide variant Inborn genetic diseases [RCV002753119] Chr7:83392674 [GRCh38]
Chr7:83021990 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1259A>G (p.Lys420Arg) single nucleotide variant CHARGE association [RCV002771040] Chr7:83400135 [GRCh38]
Chr7:83029451 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.535A>G (p.Ile179Val) single nucleotide variant CHARGE association [RCV002970904] Chr7:83418405 [GRCh38]
Chr7:83047721 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.108A>G (p.Ser36=) single nucleotide variant CHARGE association [RCV002843840] Chr7:83648435 [GRCh38]
Chr7:83277751 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1876-8T>C single nucleotide variant CHARGE association [RCV002862643] Chr7:83368046 [GRCh38]
Chr7:82997362 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.494G>A (p.Arg165Lys) single nucleotide variant CHARGE association [RCV002975578] Chr7:83418446 [GRCh38]
Chr7:83047762 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.433A>G (p.Ile145Val) single nucleotide variant CHARGE association [RCV002794879] Chr7:83466505 [GRCh38]
Chr7:83095821 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1404C>G (p.Asn468Lys) single nucleotide variant CHARGE association [RCV003777802]|Inborn genetic diseases [RCV002817637] Chr7:83396692 [GRCh38]
Chr7:83026008 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1803A>C (p.Glu601Asp) single nucleotide variant CHARGE association [RCV002947858] Chr7:83385366 [GRCh38]
Chr7:83014682 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1131A>G (p.Pro377=) single nucleotide variant CHARGE association [RCV002863773] Chr7:83402644 [GRCh38]
Chr7:83031960 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.276+10T>C single nucleotide variant CHARGE association [RCV002996623] Chr7:83490104 [GRCh38]
Chr7:83119420 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.383C>A (p.Thr128Lys) single nucleotide variant CHARGE association [RCV003076587] Chr7:83466555 [GRCh38]
Chr7:83095871 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.337-18C>G single nucleotide variant CHARGE association [RCV003077044] Chr7:83466619 [GRCh38]
Chr7:83095935 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1182C>G (p.Thr394=) single nucleotide variant CHARGE association [RCV003034854] Chr7:83400212 [GRCh38]
Chr7:83029528 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1890C>T (p.Asp630=) single nucleotide variant CHARGE association [RCV003016192] Chr7:83368024 [GRCh38]
Chr7:82997340 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.960T>A (p.His320Gln) single nucleotide variant CHARGE association [RCV002994607] Chr7:83405488 [GRCh38]
Chr7:83034804 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.316A>G (p.Ile106Val) single nucleotide variant CHARGE association [RCV002903719] Chr7:83469263 [GRCh38]
Chr7:83098579 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.2212_2215del (p.Lys738fs) deletion CHARGE association [RCV002730311] Chr7:83367699..83367702 [GRCh38]
Chr7:82997015..82997018 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.638G>A (p.Arg213His) single nucleotide variant CHARGE association [RCV003074193] Chr7:83408400 [GRCh38]
Chr7:83037716 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1506G>C (p.Gln502His) single nucleotide variant CHARGE association [RCV003603142]|Inborn genetic diseases [RCV002905174] Chr7:83392716 [GRCh38]
Chr7:83022032 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.2239T>A (p.Ser747Thr) single nucleotide variant CHARGE association [RCV002726829] Chr7:83367675 [GRCh38]
Chr7:82996991 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1194T>C (p.Pro398=) single nucleotide variant CHARGE association [RCV003033773] Chr7:83400200 [GRCh38]
Chr7:83029516 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1367-17GTTTT[3] microsatellite CHARGE association [RCV002775906] Chr7:83396736..83396737 [GRCh38]
Chr7:83026052..83026053 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1857T>G (p.Arg619=) single nucleotide variant CHARGE association [RCV002971338]|SEMA3E-related condition [RCV003963509] Chr7:83385312 [GRCh38]
Chr7:83014628 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.901G>A (p.Gly301Arg) single nucleotide variant CHARGE association [RCV003034954] Chr7:83405972 [GRCh38]
Chr7:83035288 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1932A>G (p.Leu644=) single nucleotide variant CHARGE association [RCV002947600]|SEMA3E-related condition [RCV003973554] Chr7:83367982 [GRCh38]
Chr7:82997298 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.37T>C (p.Trp13Arg) single nucleotide variant CHARGE association [RCV002593049] Chr7:83648506 [GRCh38]
Chr7:83277822 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1260A>G (p.Lys420=) single nucleotide variant CHARGE association [RCV003037404] Chr7:83400134 [GRCh38]
Chr7:83029450 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1636C>T (p.Arg546Trp) single nucleotide variant CHARGE association [RCV002928104] Chr7:83392586 [GRCh38]
Chr7:83021902 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.2035G>A (p.Glu679Lys) single nucleotide variant CHARGE association [RCV003077889] Chr7:83367879 [GRCh38]
Chr7:82997195 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1387G>A (p.Val463Ile) single nucleotide variant Inborn genetic diseases [RCV002888841] Chr7:83396709 [GRCh38]
Chr7:83026025 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.2008T>C (p.Leu670=) single nucleotide variant CHARGE association [RCV003081287] Chr7:83367906 [GRCh38]
Chr7:82997222 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1686T>C (p.Asp562=) single nucleotide variant CHARGE association [RCV002885925] Chr7:83387032 [GRCh38]
Chr7:83016348 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.928+10T>C single nucleotide variant CHARGE association [RCV003100662] Chr7:83405935 [GRCh38]
Chr7:83035251 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1657C>G (p.His553Asp) single nucleotide variant CHARGE association [RCV002795356] Chr7:83392565 [GRCh38]
Chr7:83021881 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1953C>T (p.Thr651=) single nucleotide variant CHARGE association [RCV002569679] Chr7:83367961 [GRCh38]
Chr7:82997277 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1062C>T (p.Asn354=) single nucleotide variant CHARGE association [RCV002636837]|SEMA3E-related condition [RCV003892213] Chr7:83402713 [GRCh38]
Chr7:83032029 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1143+17A>G single nucleotide variant CHARGE association [RCV002886085] Chr7:83402615 [GRCh38]
Chr7:83031931 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1727A>C (p.Gln576Pro) single nucleotide variant CHARGE association [RCV002619298] Chr7:83386991 [GRCh38]
Chr7:83016307 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1875+19T>C single nucleotide variant CHARGE association [RCV002999292] Chr7:83385275 [GRCh38]
Chr7:83014591 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1862C>A (p.Thr621Lys) single nucleotide variant CHARGE association [RCV002760468] Chr7:83385307 [GRCh38]
Chr7:83014623 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.550+5T>C single nucleotide variant CHARGE association [RCV003078056]|SEMA3E-related condition [RCV003943762] Chr7:83418385 [GRCh38]
Chr7:83047701 [GRCh37]
Chr7:7q21.11		 likely benign|uncertain significance
NM_012431.3(SEMA3E):c.1319G>A (p.Arg440Gln) single nucleotide variant CHARGE association [RCV003001984] Chr7:83400075 [GRCh38]
Chr7:83029391 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1500+16G>A single nucleotide variant CHARGE association [RCV003002574] Chr7:83394281 [GRCh38]
Chr7:83023597 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.630C>T (p.Ala210=) single nucleotide variant CHARGE association [RCV002780586] Chr7:83408408 [GRCh38]
Chr7:83037724 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1461T>C (p.Asp487=) single nucleotide variant CHARGE association [RCV002866891] Chr7:83394336 [GRCh38]
Chr7:83023652 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.414T>C (p.Phe138=) single nucleotide variant CHARGE association [RCV003077937]|SEMA3E-related condition [RCV003953869] Chr7:83466524 [GRCh38]
Chr7:83095840 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1366+11G>T single nucleotide variant CHARGE association [RCV003036624] Chr7:83400017 [GRCh38]
Chr7:83029333 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1735+17C>T single nucleotide variant CHARGE association [RCV002923038] Chr7:83386966 [GRCh38]
Chr7:83016282 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1273G>A (p.Val425Ile) single nucleotide variant CHARGE association [RCV002756948] Chr7:83400121 [GRCh38]
Chr7:83029437 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.266G>C (p.Gly89Ala) single nucleotide variant CHARGE association [RCV002999897] Chr7:83490124 [GRCh38]
Chr7:83119440 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.115+4G>A single nucleotide variant CHARGE association [RCV002885534] Chr7:83648424 [GRCh38]
Chr7:83277740 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.532T>G (p.Phe178Val) single nucleotide variant CHARGE association [RCV002909595] Chr7:83418408 [GRCh38]
Chr7:83047724 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.816T>C (p.Asn272=) single nucleotide variant CHARGE association [RCV002638759] Chr7:83406057 [GRCh38]
Chr7:83035373 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.418C>T (p.Pro140Ser) single nucleotide variant Inborn genetic diseases [RCV002911823] Chr7:83466520 [GRCh38]
Chr7:83095836 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1828A>C (p.Lys610Gln) single nucleotide variant CHARGE association [RCV003021551] Chr7:83385341 [GRCh38]
Chr7:83014657 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.2109G>A (p.Ser703=) single nucleotide variant CHARGE association [RCV002976380]|SEMA3E-related condition [RCV003973603] Chr7:83367805 [GRCh38]
Chr7:82997121 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.732A>G (p.Val244=) single nucleotide variant CHARGE association [RCV003077304] Chr7:83407178 [GRCh38]
Chr7:83036494 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.868G>A (p.Ala290Thr) single nucleotide variant CHARGE association [RCV003083542] Chr7:83406005 [GRCh38]
Chr7:83035321 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.336+15T>C single nucleotide variant CHARGE association [RCV002933410] Chr7:83469228 [GRCh38]
Chr7:83098544 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.2004C>T (p.Ile668=) single nucleotide variant CHARGE association [RCV003084057] Chr7:83367910 [GRCh38]
Chr7:82997226 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1240G>A (p.Ala414Thr) single nucleotide variant CHARGE association [RCV002933451] Chr7:83400154 [GRCh38]
Chr7:83029470 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.590G>A (p.Ser197Asn) single nucleotide variant CHARGE association [RCV003043589] Chr7:83408448 [GRCh38]
Chr7:83037764 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1366+1G>T single nucleotide variant CHARGE association [RCV002894830] Chr7:83400027 [GRCh38]
Chr7:83029343 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1500+6T>C single nucleotide variant CHARGE association [RCV002957204] Chr7:83394291 [GRCh38]
Chr7:83023607 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1144-15C>A single nucleotide variant CHARGE association [RCV002852567] Chr7:83400265 [GRCh38]
Chr7:83029581 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.90C>T (p.His30=) single nucleotide variant CHARGE association [RCV002982955]|SEMA3E-related condition [RCV003973606] Chr7:83648453 [GRCh38]
Chr7:83277769 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.671-16T>C single nucleotide variant CHARGE association [RCV002786491] Chr7:83407255 [GRCh38]
Chr7:83036571 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1462C>G (p.Pro488Ala) single nucleotide variant CHARGE association [RCV003083939] Chr7:83394335 [GRCh38]
Chr7:83023651 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.708T>C (p.Asn236=) single nucleotide variant CHARGE association [RCV002890335] Chr7:83407202 [GRCh38]
Chr7:83036518 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.508T>A (p.Cys170Ser) single nucleotide variant CHARGE association [RCV003005294] Chr7:83418432 [GRCh38]
Chr7:83047748 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.2006C>T (p.Thr669Ile) single nucleotide variant CHARGE association [RCV002593974] Chr7:83367908 [GRCh38]
Chr7:82997224 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.550+17C>T single nucleotide variant CHARGE association [RCV002790165] Chr7:83418373 [GRCh38]
Chr7:83047689 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.670+11G>A single nucleotide variant CHARGE association [RCV002917603] Chr7:83408357 [GRCh38]
Chr7:83037673 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.707A>G (p.Asn236Ser) single nucleotide variant CHARGE association [RCV003603133]|Inborn genetic diseases [RCV002697043] Chr7:83407203 [GRCh38]
Chr7:83036519 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.281A>G (p.His94Arg) single nucleotide variant CHARGE association [RCV002893835] Chr7:83469298 [GRCh38]
Chr7:83098614 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1988A>G (p.His663Arg) single nucleotide variant Inborn genetic diseases [RCV002900851] Chr7:83367926 [GRCh38]
Chr7:82997242 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.551-19del deletion CHARGE association [RCV003065407] Chr7:83408506 [GRCh38]
Chr7:83037822 [GRCh37]
Chr7:7q21.11		 benign
NM_012431.3(SEMA3E):c.1458+11C>T single nucleotide variant CHARGE association [RCV003089491] Chr7:83396627 [GRCh38]
Chr7:83025943 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1025G>A (p.Cys342Tyr) single nucleotide variant CHARGE association [RCV002895599] Chr7:83402750 [GRCh38]
Chr7:83032066 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.202G>A (p.Glu68Lys) single nucleotide variant CHARGE association [RCV002628299] Chr7:83490188 [GRCh38]
Chr7:83119504 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1324G>C (p.Glu442Gln) single nucleotide variant CHARGE association [RCV003063523] Chr7:83400070 [GRCh38]
Chr7:83029386 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.726C>T (p.Asn242=) single nucleotide variant CHARGE association [RCV002717169]|SEMA3E-related condition [RCV003963338] Chr7:83407184 [GRCh38]
Chr7:83036500 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.102C>T (p.Arg34=) single nucleotide variant CHARGE association [RCV002628832] Chr7:83648441 [GRCh38]
Chr7:83277757 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1341A>C (p.Gln447His) single nucleotide variant CHARGE association [RCV002627654] Chr7:83400053 [GRCh38]
Chr7:83029369 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1099T>C (p.Trp367Arg) single nucleotide variant CHARGE association [RCV002577230] Chr7:83402676 [GRCh38]
Chr7:83031992 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.809G>C (p.Cys270Ser) single nucleotide variant CHARGE association [RCV002833884] Chr7:83407101 [GRCh38]
Chr7:83036417 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.998+15C>T single nucleotide variant CHARGE association [RCV002937833] Chr7:83405435 [GRCh38]
Chr7:83034751 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1264C>A (p.Pro422Thr) single nucleotide variant CHARGE association [RCV002646041] Chr7:83400130 [GRCh38]
Chr7:83029446 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.288G>C (p.Pro96=) single nucleotide variant CHARGE association [RCV002857476] Chr7:83469291 [GRCh38]
Chr7:83098607 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1484A>C (p.Glu495Ala) single nucleotide variant CHARGE association [RCV002810877] Chr7:83394313 [GRCh38]
Chr7:83023629 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.456+11T>A single nucleotide variant CHARGE association [RCV002628122] Chr7:83466471 [GRCh38]
Chr7:83095787 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.611G>A (p.Arg204His) single nucleotide variant CHARGE association [RCV003088342] Chr7:83408427 [GRCh38]
Chr7:83037743 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.781G>C (p.Ala261Pro) single nucleotide variant CHARGE association [RCV002648177] Chr7:83407129 [GRCh38]
Chr7:83036445 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1367-20C>T single nucleotide variant CHARGE association [RCV002632111] Chr7:83396749 [GRCh38]
Chr7:83026065 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.2079G>A (p.Arg693=) single nucleotide variant CHARGE association [RCV003065128] Chr7:83367835 [GRCh38]
Chr7:82997151 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1691G>A (p.Arg564Gln) single nucleotide variant CHARGE association [RCV002770584]|SEMA3E-related condition [RCV003963356] Chr7:83387027 [GRCh38]
Chr7:83016343 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.967C>A (p.Pro323Thr) single nucleotide variant Inborn genetic diseases [RCV002944886] Chr7:83405481 [GRCh38]
Chr7:83034797 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.461C>T (p.Pro154Leu) single nucleotide variant CHARGE association [RCV003067081] Chr7:83418479 [GRCh38]
Chr7:83047795 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.658C>T (p.Arg220Cys) single nucleotide variant CHARGE association [RCV003052744]|SEMA3E-related condition [RCV003906457] Chr7:83408380 [GRCh38]
Chr7:83037696 [GRCh37]
Chr7:7q21.11		 likely benign|uncertain significance
NM_012431.3(SEMA3E):c.335C>A (p.Ala112Glu) single nucleotide variant CHARGE association [RCV002633421] Chr7:83469244 [GRCh38]
Chr7:83098560 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.30G>A (p.Leu10=) single nucleotide variant CHARGE association [RCV002606456]|SEMA3E-related condition [RCV003918923] Chr7:83648513 [GRCh38]
Chr7:83277829 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.814-20C>T single nucleotide variant CHARGE association [RCV002584244] Chr7:83406079 [GRCh38]
Chr7:83035395 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.2055C>T (p.Asp685=) single nucleotide variant CHARGE association [RCV003066659]|SEMA3E-related condition [RCV003916718] Chr7:83367859 [GRCh38]
Chr7:82997175 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1146T>C (p.Cys382=) single nucleotide variant CHARGE association [RCV002589962] Chr7:83400248 [GRCh38]
Chr7:83029564 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.671-1G>C single nucleotide variant CHARGE association [RCV003067414] Chr7:83407240 [GRCh38]
Chr7:83036556 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.551-14A>G single nucleotide variant CHARGE association [RCV002607202] Chr7:83408501 [GRCh38]
Chr7:83037817 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.358C>T (p.Arg120Trp) single nucleotide variant CHARGE association [RCV003069571] Chr7:83466580 [GRCh38]
Chr7:83095896 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.707A>T (p.Asn236Ile) single nucleotide variant CHARGE association [RCV003051449] Chr7:83407203 [GRCh38]
Chr7:83036519 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.758T>C (p.Leu253Pro) single nucleotide variant CHARGE association [RCV002587912] Chr7:83407152 [GRCh38]
Chr7:83036468 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.807C>T (p.Leu269=) single nucleotide variant CHARGE association [RCV002612301] Chr7:83407103 [GRCh38]
Chr7:83036419 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1667+8G>A single nucleotide variant CHARGE association [RCV002610450] Chr7:83392547 [GRCh38]
Chr7:83021863 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1820T>C (p.Leu607Ser) single nucleotide variant Inborn genetic diseases [RCV003211662] Chr7:83385349 [GRCh38]
Chr7:83014665 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.353A>G (p.Tyr118Cys) single nucleotide variant Inborn genetic diseases [RCV003199782] Chr7:83466585 [GRCh38]
Chr7:83095901 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.2056G>A (p.Asp686Asn) single nucleotide variant SEMA3E-related condition [RCV003394338] Chr7:83367858 [GRCh38]
Chr7:82997174 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.459T>A (p.Asp153Glu) single nucleotide variant SEMA3E-related condition [RCV003394425] Chr7:83418481 [GRCh38]
Chr7:83047797 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1143+15A>G single nucleotide variant CHARGE association [RCV003875315] Chr7:83402617 [GRCh38]
Chr7:83031933 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.15G>C (p.Gly5=) single nucleotide variant CHARGE association [RCV003603996]|SEMA3E-related condition [RCV003981112] Chr7:83648528 [GRCh38]
Chr7:83277844 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1736-9C>T single nucleotide variant CHARGE association [RCV003604039] Chr7:83385442 [GRCh38]
Chr7:83014758 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.229C>T (p.Leu77Phe) single nucleotide variant CHARGE association [RCV003603643] Chr7:83490161 [GRCh38]
Chr7:83119477 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.553A>G (p.Ser185Gly) single nucleotide variant CHARGE association [RCV003873255] Chr7:83408485 [GRCh38]
Chr7:83037801 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.799G>A (p.Gly267Arg) single nucleotide variant CHARGE association [RCV003603671]|SEMA3E-related condition [RCV003893320] Chr7:83407111 [GRCh38]
Chr7:83036427 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1929del (p.Arg643fs) deletion SEMA3E-related condition [RCV003391410] Chr7:83367985 [GRCh38]
Chr7:82997301 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1189T>C (p.Tyr397His) single nucleotide variant SEMA3E-related condition [RCV003403106] Chr7:83400205 [GRCh38]
Chr7:83029521 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.720T>G (p.Asp240Glu) single nucleotide variant SEMA3E-related condition [RCV003427932] Chr7:83407190 [GRCh38]
Chr7:83036506 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.265G>C (p.Gly89Arg) single nucleotide variant CHARGE association [RCV003603582] Chr7:83490125 [GRCh38]
Chr7:83119441 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.649G>A (p.Asp217Asn) single nucleotide variant CHARGE association [RCV003825606] Chr7:83408389 [GRCh38]
Chr7:83037705 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1444C>A (p.Leu482Ile) single nucleotide variant CHARGE association [RCV003497995]|Isolated anophthalmia-microphthalmia syndrome [RCV003389609] Chr7:83396652 [GRCh38]
Chr7:83025968 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1375A>C (p.Ile459Leu) single nucleotide variant SEMA3E-related condition [RCV003399956] Chr7:83396721 [GRCh38]
Chr7:83026037 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.739T>G (p.Phe247Val) single nucleotide variant not provided [RCV003433926] Chr7:83407171 [GRCh38]
Chr7:83036487 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.398G>A (p.Cys133Tyr) single nucleotide variant not provided [RCV003433927] Chr7:83466540 [GRCh38]
Chr7:83095856 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.670+7A>G single nucleotide variant SEMA3E-related condition [RCV003412035] Chr7:83408361 [GRCh38]
Chr7:83037677 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.305T>C (p.Met102Thr) single nucleotide variant not provided [RCV003433928] Chr7:83469274 [GRCh38]
Chr7:83098590 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.482C>A (p.Pro161His) single nucleotide variant CHARGE association [RCV003778181]|SEMA3E-related condition [RCV003420737] Chr7:83418458 [GRCh38]
Chr7:83047774 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.2122C>A (p.Pro708Thr) single nucleotide variant SEMA3E-related condition [RCV003405967] Chr7:83367792 [GRCh38]
Chr7:82997108 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.80A>C (p.Asp27Ala) single nucleotide variant SEMA3E-related condition [RCV003416815] Chr7:83648463 [GRCh38]
Chr7:83277779 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1826C>T (p.Ala609Val) single nucleotide variant SEMA3E-related condition [RCV003410629] Chr7:83385343 [GRCh38]
Chr7:83014659 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1563G>A (p.Met521Ile) single nucleotide variant CHARGE association [RCV003498002]|SEMA3E-related condition [RCV003418771] Chr7:83392659 [GRCh38]
Chr7:83021975 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.845A>G (p.Asn282Ser) single nucleotide variant SEMA3E-related condition [RCV003402382] Chr7:83406028 [GRCh38]
Chr7:83035344 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.223A>G (p.Arg75Gly) single nucleotide variant CHARGE association [RCV003603161]|SEMA3E-related condition [RCV003419255] Chr7:83490167 [GRCh38]
Chr7:83119483 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1736G>T (p.Gly579Val) single nucleotide variant CHARGE association [RCV003602826] Chr7:83385433 [GRCh38]
Chr7:83014749 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1085G>A (p.Gly362Glu) single nucleotide variant CHARGE association [RCV003602828] Chr7:83402690 [GRCh38]
Chr7:83032006 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1459-11del deletion CHARGE association [RCV003603932] Chr7:83394349 [GRCh38]
Chr7:83023665 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1144-12C>T single nucleotide variant CHARGE association [RCV003602684] Chr7:83400262 [GRCh38]
Chr7:83029578 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1875+17T>G single nucleotide variant CHARGE association [RCV003604379] Chr7:83385277 [GRCh38]
Chr7:83014593 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.998+9T>G single nucleotide variant CHARGE association [RCV003604450] Chr7:83405441 [GRCh38]
Chr7:83034757 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.150T>C (p.His50=) single nucleotide variant CHARGE association [RCV003829433] Chr7:83490240 [GRCh38]
Chr7:83119556 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1826C>A (p.Ala609Glu) single nucleotide variant CHARGE association [RCV003604523] Chr7:83385343 [GRCh38]
Chr7:83014659 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1748A>G (p.Asp583Gly) single nucleotide variant CHARGE association [RCV003602985] Chr7:83385421 [GRCh38]
Chr7:83014737 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.39G>A (p.Trp13Ter) single nucleotide variant CHARGE association [RCV003604779] Chr7:83648504 [GRCh38]
Chr7:83277820 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1269A>G (p.Ile423Met) single nucleotide variant CHARGE association [RCV003602905] Chr7:83400125 [GRCh38]
Chr7:83029441 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1831G>A (p.Val611Ile) single nucleotide variant CHARGE association [RCV003604786] Chr7:83385338 [GRCh38]
Chr7:83014654 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1295A>G (p.Asn432Ser) single nucleotide variant CHARGE association [RCV003602742] Chr7:83400099 [GRCh38]
Chr7:83029415 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.2224C>A (p.Leu742Ile) single nucleotide variant CHARGE association [RCV003602766] Chr7:83367690 [GRCh38]
Chr7:82997006 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1667+8G>T single nucleotide variant CHARGE association [RCV003602922] Chr7:83392547 [GRCh38]
Chr7:83021863 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.287C>T (p.Pro96Leu) single nucleotide variant CHARGE association [RCV003603740] Chr7:83469292 [GRCh38]
Chr7:83098608 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.25A>G (p.Thr9Ala) single nucleotide variant CHARGE association [RCV003602799] Chr7:83648518 [GRCh38]
Chr7:83277834 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.555T>C (p.Ser185=) single nucleotide variant CHARGE association [RCV003882469] Chr7:83408483 [GRCh38]
Chr7:83037799 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.803G>A (p.Arg268Gln) single nucleotide variant CHARGE association [RCV003602954] Chr7:83407107 [GRCh38]
Chr7:83036423 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.975dup (p.Phe326fs) duplication CHARGE association [RCV003604026] Chr7:83405472..83405473 [GRCh38]
Chr7:83034788..83034789 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1850A>G (p.Lys617Arg) single nucleotide variant CHARGE association [RCV003604860] Chr7:83385319 [GRCh38]
Chr7:83014635 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1208G>A (p.Arg403Gln) single nucleotide variant CHARGE association [RCV003877595] Chr7:83400186 [GRCh38]
Chr7:83029502 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1405C>G (p.Gln469Glu) single nucleotide variant CHARGE association [RCV003604155] Chr7:83396691 [GRCh38]
Chr7:83026007 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.9C>A (p.Ser3=) single nucleotide variant CHARGE association [RCV003604168] Chr7:83648534 [GRCh38]
Chr7:83277850 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.157T>G (p.Phe53Val) single nucleotide variant CHARGE association [RCV003604999] Chr7:83490233 [GRCh38]
Chr7:83119549 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.813+20_813+22del deletion CHARGE association [RCV003605103] Chr7:83407075..83407077 [GRCh38]
Chr7:83036391..83036393 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.277-13_277-2dup duplication CHARGE association [RCV003605047] Chr7:83469303..83469304 [GRCh38]
Chr7:83098619..83098620 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1550A>G (p.His517Arg) single nucleotide variant CHARGE association [RCV003604385] Chr7:83392672 [GRCh38]
Chr7:83021988 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.760G>C (p.Glu254Gln) single nucleotide variant CHARGE association [RCV003880869] Chr7:83407150 [GRCh38]
Chr7:83036466 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.306G>A (p.Met102Ile) single nucleotide variant CHARGE association [RCV003603846] Chr7:83469273 [GRCh38]
Chr7:83098589 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1458+1G>T single nucleotide variant CHARGE association [RCV003602556] Chr7:83396637 [GRCh38]
Chr7:83025953 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1875+20T>G single nucleotide variant CHARGE association [RCV003602565] Chr7:83385274 [GRCh38]
Chr7:83014590 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.11C>T (p.Ala4Val) single nucleotide variant CHARGE association [RCV003603851] Chr7:83648532 [GRCh38]
Chr7:83277848 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1834A>G (p.Ile612Val) single nucleotide variant CHARGE association [RCV003603853] Chr7:83385335 [GRCh38]
Chr7:83014651 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.815A>G (p.Asn272Ser) single nucleotide variant CHARGE association [RCV003604563] Chr7:83406058 [GRCh38]
Chr7:83035374 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.891A>G (p.Pro297=) single nucleotide variant CHARGE association [RCV003603921] Chr7:83405982 [GRCh38]
Chr7:83035298 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1392C>T (p.Ile464=) single nucleotide variant CHARGE association [RCV003605088] Chr7:83396704 [GRCh38]
Chr7:83026020 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1861A>G (p.Thr621Ala) single nucleotide variant CHARGE association [RCV003603982] Chr7:83385308 [GRCh38]
Chr7:83014624 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.41G>T (p.Gly14Val) single nucleotide variant CHARGE association [RCV003604125] Chr7:83648502 [GRCh38]
Chr7:83277818 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1992G>T (p.Thr664=) single nucleotide variant CHARGE association [RCV003604622] Chr7:83367922 [GRCh38]
Chr7:82997238 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1021A>G (p.Ile341Val) single nucleotide variant CHARGE association [RCV003880468] Chr7:83402754 [GRCh38]
Chr7:83032070 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.2199G>T (p.Trp733Cys) single nucleotide variant CHARGE association [RCV003881187] Chr7:83367715 [GRCh38]
Chr7:82997031 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.550+14C>T single nucleotide variant CHARGE association [RCV003825017] Chr7:83418376 [GRCh38]
Chr7:83047692 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1046T>C (p.Ile349Thr) single nucleotide variant CHARGE association [RCV003604369] Chr7:83402729 [GRCh38]
Chr7:83032045 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1929G>C (p.Arg643Ser) single nucleotide variant CHARGE association [RCV003604870] Chr7:83367985 [GRCh38]
Chr7:82997301 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.907G>A (p.Asp303Asn) single nucleotide variant CHARGE association [RCV003603506] Chr7:83405966 [GRCh38]
Chr7:83035282 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.657G>A (p.Glu219=) single nucleotide variant CHARGE association [RCV003603555] Chr7:83408381 [GRCh38]
Chr7:83037697 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.531C>T (p.Ser177=) single nucleotide variant CHARGE association [RCV003497548] Chr7:83418409 [GRCh38]
Chr7:83047725 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.2315C>T (p.Thr772Met) single nucleotide variant CHARGE association [RCV003499122] Chr7:83367599 [GRCh38]
Chr7:82996915 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.2300G>T (p.Arg767Leu) single nucleotide variant CHARGE association [RCV003499082] Chr7:83367614 [GRCh38]
Chr7:82996930 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1887T>A (p.Asp629Glu) single nucleotide variant CHARGE association [RCV003812007] Chr7:83368027 [GRCh38]
Chr7:82997343 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1806T>C (p.Cys602=) single nucleotide variant CHARGE association [RCV003499132] Chr7:83385363 [GRCh38]
Chr7:83014679 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1834del (p.Ile612fs) deletion CHARGE association [RCV003498047] Chr7:83385335 [GRCh38]
Chr7:83014651 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.228C>A (p.Asp76Glu) single nucleotide variant CHARGE association [RCV003498773] Chr7:83490162 [GRCh38]
Chr7:83119478 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1970T>C (p.Val657Ala) single nucleotide variant CHARGE association [RCV003498782] Chr7:83367944 [GRCh38]
Chr7:82997260 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.2187C>T (p.Cys729=) single nucleotide variant CHARGE association [RCV003603267]|SEMA3E-related condition [RCV003901221] Chr7:83367727 [GRCh38]
Chr7:82997043 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.439G>T (p.Val147Phe) single nucleotide variant CHARGE association [RCV003497552] Chr7:83466499 [GRCh38]
Chr7:83095815 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.988A>C (p.Asn330His) single nucleotide variant CHARGE association [RCV003498865] Chr7:83405460 [GRCh38]
Chr7:83034776 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.813+10TC[3] microsatellite CHARGE association [RCV003499274] Chr7:83407080..83407081 [GRCh38]
Chr7:83036396..83036397 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1745T>C (p.Leu582Ser) single nucleotide variant CHARGE association [RCV003499597] Chr7:83385424 [GRCh38]
Chr7:83014740 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.2253T>C (p.Tyr751=) single nucleotide variant CHARGE association [RCV003603430] Chr7:83367661 [GRCh38]
Chr7:82996977 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.609C>T (p.Phe203=) single nucleotide variant CHARGE association [RCV003499684] Chr7:83408429 [GRCh38]
Chr7:83037745 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1485G>A (p.Glu495=) single nucleotide variant CHARGE association [RCV003814799]|SEMA3E-related condition [RCV003893436] Chr7:83394312 [GRCh38]
Chr7:83023628 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1476T>A (p.Ile492=) single nucleotide variant CHARGE association [RCV003499986]|SEMA3E-related condition [RCV003946729] Chr7:83394321 [GRCh38]
Chr7:83023637 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1967C>T (p.Thr656Ile) single nucleotide variant CHARGE association [RCV003499138] Chr7:83367947 [GRCh38]
Chr7:82997263 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.56T>G (p.Leu19Arg) single nucleotide variant CHARGE association [RCV003499258] Chr7:83648487 [GRCh38]
Chr7:83277803 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.551-11C>T single nucleotide variant CHARGE association [RCV003499182] Chr7:83408498 [GRCh38]
Chr7:83037814 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.670+20T>C single nucleotide variant CHARGE association [RCV003497550] Chr7:83408348 [GRCh38]
Chr7:83037664 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1154A>G (p.Lys385Arg) single nucleotide variant CHARGE association [RCV003498103] Chr7:83400240 [GRCh38]
Chr7:83029556 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.928+12T>G single nucleotide variant CHARGE association [RCV003499405] Chr7:83405933 [GRCh38]
Chr7:83035249 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1034A>G (p.His345Arg) single nucleotide variant CHARGE association [RCV003498122] Chr7:83402741 [GRCh38]
Chr7:83032057 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.456+5G>A single nucleotide variant CHARGE association [RCV003497463] Chr7:83466477 [GRCh38]
Chr7:83095793 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.646C>T (p.His216Tyr) single nucleotide variant CHARGE association [RCV003814505]|SEMA3E-related condition [RCV003893427] Chr7:83408392 [GRCh38]
Chr7:83037708 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1138G>C (p.Gly380Arg) single nucleotide variant CHARGE association [RCV003498071] Chr7:83402637 [GRCh38]
Chr7:83031953 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.112A>C (p.Lys38Gln) single nucleotide variant CHARGE association [RCV003497537] Chr7:83648431 [GRCh38]
Chr7:83277747 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1811C>T (p.Pro604Leu) single nucleotide variant CHARGE association [RCV003497619] Chr7:83385358 [GRCh38]
Chr7:83014674 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.670+8T>A single nucleotide variant CHARGE association [RCV003498599] Chr7:83408360 [GRCh38]
Chr7:83037676 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.387_388insAATAAAAACAATGCTTAAAACAACCTTGTTCTCAAAGAAAGACTACAGCATTT (p.Leu130delinsAsnLysAsnAsnAlaTer) insertion CHARGE association [RCV003498430] Chr7:83466550..83466551 [GRCh38]
Chr7:83095866..83095867 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1359T>C (p.Ile453=) single nucleotide variant CHARGE association [RCV003498513] Chr7:83400035 [GRCh38]
Chr7:83029351 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.277A>T (p.Ile93Leu) single nucleotide variant CHARGE association [RCV003498817] Chr7:83469302 [GRCh38]
Chr7:83098618 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.802C>T (p.Arg268Ter) single nucleotide variant CHARGE association [RCV003835742] Chr7:83407108 [GRCh38]
Chr7:83036424 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.2075A>G (p.His692Arg) single nucleotide variant CHARGE association [RCV003498777] Chr7:83367839 [GRCh38]
Chr7:82997155 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.2282C>G (p.Ser761Cys) single nucleotide variant CHARGE association [RCV003499086] Chr7:83367632 [GRCh38]
Chr7:82996948 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1620T>C (p.Asp540=) single nucleotide variant CHARGE association [RCV003499111] Chr7:83392602 [GRCh38]
Chr7:83021918 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1822C>T (p.Gln608Ter) single nucleotide variant CHARGE association [RCV003499269] Chr7:83385347 [GRCh38]
Chr7:83014663 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.813+6G>A single nucleotide variant CHARGE association [RCV003603428] Chr7:83407091 [GRCh38]
Chr7:83036407 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1144-13A>G single nucleotide variant CHARGE association [RCV003603471] Chr7:83400263 [GRCh38]
Chr7:83029579 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.161G>A (p.Gly54Glu) single nucleotide variant CHARGE association [RCV003499406] Chr7:83490229 [GRCh38]
Chr7:83119545 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1814G>A (p.Arg605Gln) single nucleotide variant CHARGE association [RCV003499771] Chr7:83385355 [GRCh38]
Chr7:83014671 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.2013G>A (p.Glu671=) single nucleotide variant CHARGE association [RCV003858620] Chr7:83367901 [GRCh38]
Chr7:82997217 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1052C>T (p.Ala351Val) single nucleotide variant CHARGE association [RCV003857964] Chr7:83402723 [GRCh38]
Chr7:83032039 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1557T>C (p.Cys519=) single nucleotide variant CHARGE association [RCV003857004] Chr7:83392665 [GRCh38]
Chr7:83021981 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.2223G>A (p.Lys741=) single nucleotide variant SEMA3E-related condition [RCV003939847] Chr7:83367691 [GRCh38]
Chr7:82997007 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.671-2A>G single nucleotide variant CHARGE association [RCV003819666] Chr7:83407241 [GRCh38]
Chr7:83036557 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1885G>T (p.Asp629Tyr) single nucleotide variant CHARGE association [RCV003865862] Chr7:83368029 [GRCh38]
Chr7:82997345 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.-6G>A single nucleotide variant SEMA3E-related condition [RCV003941375] Chr7:83648548 [GRCh38]
Chr7:83277864 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.84T>C (p.Thr28=) single nucleotide variant CHARGE association [RCV003870824] Chr7:83648459 [GRCh38]
Chr7:83277775 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.551-14A>T single nucleotide variant CHARGE association [RCV003870870] Chr7:83408501 [GRCh38]
Chr7:83037817 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1390A>G (p.Ile464Val) single nucleotide variant CHARGE association [RCV003860577] Chr7:83396706 [GRCh38]
Chr7:83026022 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.933C>T (p.Asp311=) single nucleotide variant SEMA3E-related condition [RCV003942069] Chr7:83405515 [GRCh38]
Chr7:83034831 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1675C>T (p.Arg559Trp) single nucleotide variant SEMA3E-related condition [RCV003982617] Chr7:83387043 [GRCh38]
Chr7:83016359 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.214G>C (p.Val72Leu) single nucleotide variant SEMA3E-related condition [RCV003983351] Chr7:83490176 [GRCh38]
Chr7:83119492 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.1332G>A (p.Glu444=) single nucleotide variant SEMA3E-related condition [RCV003962155] Chr7:83400062 [GRCh38]
Chr7:83029378 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1533G>T (p.Val511=) single nucleotide variant SEMA3E-related condition [RCV003896294] Chr7:83392689 [GRCh38]
Chr7:83022005 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1735+6C>T single nucleotide variant SEMA3E-related condition [RCV003901821] Chr7:83386977 [GRCh38]
Chr7:83016293 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.360G>A (p.Arg120=) single nucleotide variant SEMA3E-related condition [RCV003952328] Chr7:83466578 [GRCh38]
Chr7:83095894 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1381C>T (p.Leu461=) single nucleotide variant SEMA3E-related condition [RCV003971924] Chr7:83396715 [GRCh38]
Chr7:83026031 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.2034C>G (p.Val678=) single nucleotide variant not provided [RCV003887418] Chr7:83367880 [GRCh38]
Chr7:82997196 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.302A>C (p.Lys101Thr) single nucleotide variant SEMA3E-related condition [RCV003946977] Chr7:83469277 [GRCh38]
Chr7:83098593 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.2103C>A (p.Ser701Arg) single nucleotide variant SEMA3E-related condition [RCV003982597] Chr7:83367811 [GRCh38]
Chr7:82997127 [GRCh37]
Chr7:7q21.11		 uncertain significance
NM_012431.3(SEMA3E):c.201A>G (p.Gln67=) single nucleotide variant SEMA3E-related condition [RCV003894452] Chr7:83490189 [GRCh38]
Chr7:83119505 [GRCh37]
Chr7:7q21.11		 likely benign
NM_012431.3(SEMA3E):c.1143T>G (p.Ser381=) single nucleotide variant SEMA3E-related condition [RCV003972109] Chr7:83402632 [GRCh38]
Chr7:83031948 [GRCh37]
Chr7:7q21.11		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1350
Count of miRNA genes:799
Interacting mature miRNAs:909
Transcripts:ENST00000307792, ENST00000427262, ENST00000442159, ENST00000453333
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
D7S2540  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37783,117,050 - 83,117,182UniSTSGRCh37
GRCh37783,116,985 - 83,117,187UniSTSGRCh37
Build 36782,954,921 - 82,955,123RGDNCBI36
Celera777,818,202 - 77,818,404RGD
Celera777,818,267 - 77,818,399UniSTS
Cytogenetic Map7q21.11UniSTS
HuRef777,719,629 - 77,719,835UniSTS
HuRef777,719,698 - 77,719,830UniSTS
CRA_TCAGchr7v2782,449,169 - 82,449,371UniSTS
CRA_TCAGchr7v2782,449,234 - 82,449,366UniSTS
Marshfield Genetic Map797.38UniSTS
Marshfield Genetic Map797.38RGD
Genethon Genetic Map798.4UniSTS
TNG Radiation Hybrid Map736179.0UniSTS
deCODE Assembly Map796.45UniSTS
Stanford-G3 RH Map73945.0UniSTS
Whitehead-YAC Contig Map7 UniSTS
GeneMap99-G3 RH Map73945.0UniSTS
G09563  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37783,192,768 - 83,192,884UniSTSGRCh37
Build 36783,030,704 - 83,030,820RGDNCBI36
Celera777,893,989 - 77,894,105RGD
Cytogenetic Map7q21.11UniSTS
HuRef777,795,416 - 77,795,532UniSTS
CRA_TCAGchr7v2782,524,950 - 82,525,066UniSTS
REN29193  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37783,093,763 - 83,094,006UniSTSGRCh37
GRCh376132,227,614 - 132,227,857UniSTSGRCh37
Build 366132,269,307 - 132,269,550RGDNCBI36
Celera6132,974,735 - 132,974,977RGD
Cytogenetic Map7q21.11UniSTS
CRA_TCAGchr7v2782,425,940 - 82,426,183UniSTS
GDB:1317544  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37783,129,365 - 83,129,449UniSTSGRCh37
Build 36782,967,301 - 82,967,385RGDNCBI36
Celera777,830,586 - 77,830,670RGD
Cytogenetic Map7q21.11UniSTS
HuRef777,732,016 - 77,732,100UniSTS
CRA_TCAGchr7v2782,461,552 - 82,461,636UniSTS
D8S2278  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3p25.3-p24.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic MapXp22.1UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map14q22UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map12q14.3-q15UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map14q31UniSTS
D11S3114  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map10q11.1-q24UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic MapXq13.1-q21.1UniSTS
Cytogenetic Map20pter-q12UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map9p23UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map6p12UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map22q12.3-q13.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map19q11UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map1p32.2-p32.1UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map4q13.2UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map14q24.2UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
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Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map7q22-qterUniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map5p15.1-p14.3UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic MapXq22.2UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map20q13.2-q13.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS
D7S2540  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q21.11UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 111 13 14 14 2 14 22 98 15 10 49 51 2 4
Low 1871 866 412 201 156 55 2647 815 2268 95 632 926 153 1 928 1428 2
Below cutoff 339 1462 1156 322 516 310 1600 1136 1419 182 692 575 15 276 1304 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001178129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB002329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC079799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC079987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW450461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC140706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC152458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS067222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA722912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB215551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000427262   ⟹   ENSP00000405052
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl783,363,906 - 83,641,431 (-)Ensembl
RefSeq Acc Id: ENST00000442159
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl783,408,368 - 83,612,648 (-)Ensembl
RefSeq Acc Id: ENST00000453333   ⟹   ENSP00000415184
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl783,490,188 - 83,648,802 (-)Ensembl
RefSeq Acc Id: ENST00000642232   ⟹   ENSP00000494064
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl783,371,496 - 83,648,550 (-)Ensembl
RefSeq Acc Id: ENST00000643230   ⟹   ENSP00000496491
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl783,363,238 - 83,649,139 (-)Ensembl
RefSeq Acc Id: ENST00000643441
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl783,367,485 - 83,641,431 (-)Ensembl
RefSeq Acc Id: ENST00000644381
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl783,407,140 - 83,462,160 (-)Ensembl
RefSeq Acc Id: NM_001178129   ⟹   NP_001171600
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38783,363,238 - 83,641,431 (-)NCBI
GRCh37782,993,222 - 83,278,479 (-)RGD
Celera777,694,433 - 77,979,877 (-)RGD
HuRef777,595,681 - 77,739,611 (-)RGD
CHM1_1782,923,279 - 83,200,800 (-)NCBI
T2T-CHM13v2.0784,614,452 - 84,891,885 (-)NCBI
CRA_TCAGchr7v2782,325,430 - 82,610,645 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_012431   ⟹   NP_036563
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38783,363,238 - 83,649,139 (-)NCBI
GRCh37782,993,222 - 83,278,479 (-)RGD
Build 36782,831,158 - 83,116,260 (-)NCBI Archive
Celera777,694,433 - 77,979,877 (-)RGD
HuRef777,595,681 - 77,739,611 (-)RGD
HuRef777,887,145 - 77,887,879 (-)NCBI
CHM1_1782,923,279 - 83,208,527 (-)NCBI
T2T-CHM13v2.0784,614,452 - 84,899,593 (-)NCBI
CRA_TCAGchr7v2782,325,430 - 82,610,645 (-)ENTREZGENE
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_036563   ⟸   NM_012431
- Peptide Label: isoform 1 precursor
- UniProtKB: Q75M94 (UniProtKB/Swiss-Prot),   B4E1P1 (UniProtKB/Swiss-Prot),   Q75M97 (UniProtKB/Swiss-Prot),   O15041 (UniProtKB/Swiss-Prot),   B4DLY1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001171600   ⟸   NM_001178129
- Peptide Label: isoform 2
- UniProtKB: B4DLY1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000405052   ⟸   ENST00000427262
RefSeq Acc Id: ENSP00000415184   ⟸   ENST00000453333
RefSeq Acc Id: ENSP00000494064   ⟸   ENST00000642232
RefSeq Acc Id: ENSP00000496491   ⟸   ENST00000643230
Protein Domains
Ig-like   Ig-like C2-type   Sema

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O15041-F1-model_v2 AlphaFold O15041 1-775 view protein structure

Promoters
RGD ID:7210943
Promoter ID:EPDNEW_H11217
Type:initiation region
Name:SEMA3E_3
Description:semaphorin 3E
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11218  EPDNEW_H11219  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38783,648,880 - 83,648,940EPDNEW
RGD ID:7210945
Promoter ID:EPDNEW_H11218
Type:initiation region
Name:SEMA3E_2
Description:semaphorin 3E
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11217  EPDNEW_H11219  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38783,649,012 - 83,649,072EPDNEW
RGD ID:7210953
Promoter ID:EPDNEW_H11219
Type:initiation region
Name:SEMA3E_1
Description:semaphorin 3E
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11217  EPDNEW_H11218  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38783,649,113 - 83,649,173EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10727 AgrOrtholog
COSMIC SEMA3E COSMIC
Ensembl Genes ENSG00000170381 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000453333.2 UniProtKB/TrEMBL
  ENST00000642232.1 UniProtKB/TrEMBL
  ENST00000643230 ENTREZGENE
  ENST00000643230.2 UniProtKB/Swiss-Prot
Gene3D-CATH 2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ligand-binding face of the semaphorins, domain 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000170381 GTEx
HGNC ID HGNC:10727 ENTREZGENE
Human Proteome Map SEMA3E Human Proteome Map
InterPro Ig-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Immunoglobulin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PSI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Semap_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Semap_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Semaphorin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Semaphorin_3E UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9723 UniProtKB/Swiss-Prot
NCBI Gene 9723 ENTREZGENE
OMIM 608166 OMIM
PANTHER PTHR11036 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11036:SF22 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PF00047 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sema UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35649 PharmGKB
PROSITE IG_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SEMA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PSI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sema UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Immunoglobulin UniProtKB/TrEMBL
  Plexin repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF101912 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48726 UniProtKB/Swiss-Prot
UniProt A0A2R8YCX5_HUMAN UniProtKB/TrEMBL
  B4DLY1 ENTREZGENE, UniProtKB/TrEMBL
  B4E1P1 ENTREZGENE
  F8WCZ5_HUMAN UniProtKB/TrEMBL
  O15041 ENTREZGENE
  Q75M94 ENTREZGENE
  Q75M97 ENTREZGENE
  SEM3E_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B4E1P1 UniProtKB/Swiss-Prot
  Q75M94 UniProtKB/Swiss-Prot
  Q75M97 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-19 SEMA3E  semaphorin 3E  SEMA3E  sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E  Symbol and/or name change 5135510 APPROVED