SOX5 (SRY-box transcription factor 5) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: SOX5 (SRY-box transcription factor 5) Homo sapiens
Analyze
Symbol: SOX5
Name: SRY-box transcription factor 5
RGD ID: 1603322
HGNC Page HGNC:11201
Description: Enables transcription cis-regulatory region binding activity. Involved in asymmetric neuroblast division; cellular response to transforming growth factor beta stimulus; and positive regulation of cell differentiation. Predicted to be located in chromatin. Predicted to be part of transcription regulator complex. Predicted to be active in nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: L-SOX5; L-SOX5B; L-SOX5F; LAMSHF; MGC35153; RP11-444D3.1; SRY (sex determining region Y)-box 5; SRY box 5; SRY-box 5; transcription factor SOX-5
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: SOX5P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381223,529,504 - 24,562,650 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1223,529,504 - 24,562,544 (-)EnsemblGRCh38hg38GRCh38
GRCh371223,682,438 - 24,715,425 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361223,576,498 - 24,606,647 (-)NCBINCBI36Build 36hg18NCBI36
Celera1228,833,198 - 29,862,278 (-)NCBICelera
Cytogenetic Map12p12.1NCBI
HuRef1223,452,599 - 24,484,456 (-)NCBIHuRef
CHM1_11223,650,324 - 24,680,623 (-)NCBICHM1_1
T2T-CHM13v2.01223,401,301 - 24,433,529 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
1,2-dichloroethane  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
4,4'-sulfonyldiphenol  (EXP)
8-Br-cAMP  (EXP)
acrylamide  (EXP)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
arsenite(3-)  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
beta-lapachone  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
caffeine  (EXP)
chromium(6+)  (EXP)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP)
deguelin  (EXP)
deoxynivalenol  (EXP)
dexamethasone  (ISO)
diethylstilbestrol  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
fenthion  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
fulvestrant  (EXP)
genistein  (EXP,ISO)
glyphosate  (ISO)
leflunomide  (EXP,ISO)
methapyrilene  (EXP)
methidathion  (ISO)
methoxychlor  (ISO)
methylmercury chloride  (EXP)
N,N-diethyl-m-toluamide  (ISO)
O-methyleugenol  (EXP)
ozone  (ISO)
p-chloromercuribenzoic acid  (EXP)
paracetamol  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
permethrin  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
potassium dichromate  (ISO)
propiconazole  (ISO)
rotenone  (EXP)
SB 431542  (EXP)
silicon dioxide  (ISO)
sodium arsenite  (ISO)
tamoxifen  (ISO)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
tributylstannane  (ISO)
trichloroethene  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
troglitazone  (ISO)
valproic acid  (EXP,ISO)
warfarin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
2-3 toe syndactyly  (IAGP)
Abnormal brain morphology  (IAGP)
Abnormality of skin pigmentation  (IAGP)
Abnormality of the genital system  (IAGP)
Aggressive behavior  (IAGP)
Anhidrosis  (IAGP)
Anxiety  (IAGP)
Aplasia/Hypoplasia of the nails  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Atypical behavior  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bulbous nose  (IAGP)
Butterfly vertebrae  (IAGP)
Clinodactyly  (IAGP)
Congenital giant melanocytic nevus  (IAGP)
Cryptorchidism  (IAGP)
Cutaneous melanoma  (IAGP)
Delayed speech and language development  (IAGP)
Dental crowding  (IAGP)
Depressed nasal bridge  (IAGP)
Downslanted palpebral fissures  (IAGP)
Dry skin  (IAGP)
Epicanthus  (IAGP)
Exaggerated median tongue furrow  (IAGP)
Exotropia  (IAGP)
Facial asymmetry  (IAGP)
Feeding difficulties  (IAGP)
Frontal bossing  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Headache  (IAGP)
Hydrocephalus  (IAGP)
Hyperplasia of the maxilla  (IAGP)
Hypertrichosis  (IAGP)
Hypophosphatemic rickets  (IAGP)
Hypopigmented skin patches  (IAGP)
Hypotonia  (IAGP)
Increased intracranial pressure  (IAGP)
Intellectual disability  (IAGP)
Long fingers  (IAGP)
Long hallux  (IAGP)
Low-set ears  (IAGP)
Lumbar hyperlordosis  (IAGP)
Mitral regurgitation  (IAGP)
Motor delay  (IAGP)
Motor stereotypy  (IAGP)
Myopia  (IAGP)
Narrow palate  (IAGP)
Neurodevelopmental delay  (IAGP)
Nevus  (IAGP)
Open mouth  (IAGP)
Optic atrophy  (IAGP)
Optic nerve hypoplasia  (IAGP)
Overlapping toe  (IAGP)
Pectus carinatum  (IAGP)
Pes planus  (IAGP)
Poor wound healing  (IAGP)
Posteriorly rotated ears  (IAGP)
Premature thelarche  (IAGP)
Pruritus  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Self-injurious behavior  (IAGP)
Spinal cord compression  (IAGP)
Strabismus  (IAGP)
Subcutaneous nodule  (IAGP)
Thoracic kyphoscoliosis  (IAGP)
Thoracolumbar scoliosis  (IAGP)
Vertebral clefting  (IAGP)
Vertebral fusion  (IAGP)
Wide nasal bridge  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1614875   PMID:8078769   PMID:8125298   PMID:8812465   PMID:8889548   PMID:9755172   PMID:10729834   PMID:11071752   PMID:11585348   PMID:11912161   PMID:12100890   PMID:12194848  
PMID:12406576   PMID:12477932   PMID:14702039   PMID:15231748   PMID:15489334   PMID:16344560   PMID:17230535   PMID:17554380   PMID:18519826   PMID:19173284   PMID:19219070   PMID:19274049  
PMID:19453261   PMID:19754311   PMID:20062060   PMID:20195266   PMID:20339536   PMID:20379614   PMID:20634891   PMID:20639392   PMID:20668334   PMID:21262861   PMID:21330457   PMID:21401405  
PMID:21516116   PMID:21532573   PMID:21653829   PMID:21728837   PMID:21779181   PMID:21832049   PMID:21873635   PMID:21988832   PMID:22094256   PMID:22197933   PMID:22290657   PMID:22396742  
PMID:22458338   PMID:22547066   PMID:23220431   PMID:23498568   PMID:23509962   PMID:23884650   PMID:23946438   PMID:24418753   PMID:24607904   PMID:24648396   PMID:24945754   PMID:25101494  
PMID:25304615   PMID:25305447   PMID:25416956   PMID:25572815   PMID:26115875   PMID:26186194   PMID:26525805   PMID:26927636   PMID:27550416   PMID:28137312   PMID:28186563   PMID:28365963  
PMID:28371600   PMID:28514442   PMID:28585545   PMID:28969442   PMID:29286531   PMID:29365100   PMID:29890823   PMID:30261039   PMID:30816573   PMID:30819403   PMID:30863997   PMID:30983072  
PMID:31322222   PMID:31515488   PMID:31578471   PMID:31586073   PMID:31713604   PMID:31868949   PMID:32296183   PMID:32468049   PMID:32678069   PMID:32814053   PMID:32960357   PMID:33176966  
PMID:33296143   PMID:33824420   PMID:33961781   PMID:35016035   PMID:35089659   PMID:35140242   PMID:35880568   PMID:35975639   PMID:37702321   PMID:37862152   PMID:38297188  


Genomics

Comparative Map Data
SOX5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381223,529,504 - 24,562,650 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1223,529,504 - 24,562,544 (-)EnsemblGRCh38hg38GRCh38
GRCh371223,682,438 - 24,715,425 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361223,576,498 - 24,606,647 (-)NCBINCBI36Build 36hg18NCBI36
Celera1228,833,198 - 29,862,278 (-)NCBICelera
Cytogenetic Map12p12.1NCBI
HuRef1223,452,599 - 24,484,456 (-)NCBIHuRef
CHM1_11223,650,324 - 24,680,623 (-)NCBICHM1_1
T2T-CHM13v2.01223,401,301 - 24,433,529 (-)NCBIT2T-CHM13v2.0
Sox5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396143,774,151 - 144,728,008 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl6143,774,151 - 144,727,703 (-)EnsemblGRCm39 Ensembl
GRCm386143,828,425 - 144,782,287 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6143,828,425 - 144,781,977 (-)EnsemblGRCm38mm10GRCm38
MGSCv376143,781,349 - 144,158,078 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv366143,790,051 - 144,166,639 (-)NCBIMGSCv36mm8
Celera6146,885,590 - 147,265,302 (-)NCBICelera
Cytogenetic Map6G3NCBI
cM Map676.14NCBI
Sox5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84178,512,272 - 179,467,686 (-)NCBIGRCr8
mRatBN7.24176,781,375 - 177,736,833 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4176,785,892 - 177,736,852 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4183,088,517 - 183,461,996 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04178,872,831 - 179,246,322 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04177,493,406 - 177,866,892 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04178,062,267 - 179,031,991 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4178,066,165 - 178,441,547 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04242,266,295 - 243,221,217 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44181,558,995 - 181,931,117 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.14181,825,983 - 182,011,429 (-)NCBI
Celera4165,313,274 - 165,629,808 (-)NCBICelera
Cytogenetic Map4q44NCBI
Sox5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541318,831,931 - 19,204,217 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541318,831,931 - 19,676,371 (-)NCBIChiLan1.0ChiLan1.0
SOX5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21072,253,383 - 73,284,141 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11272,249,780 - 73,280,539 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01262,361,631 - 62,780,805 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11264,973,019 - 65,391,500 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1264,971,818 - 65,388,694 (+)Ensemblpanpan1.1panPan2
SOX5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12722,857,661 - 23,855,709 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2723,452,985 - 23,851,380 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2722,515,990 - 23,511,350 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02723,058,695 - 24,061,457 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2723,059,559 - 24,061,452 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12722,871,574 - 23,867,072 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02722,890,892 - 23,887,914 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02722,685,794 - 23,683,255 (-)NCBIUU_Cfam_GSD_1.0
Sox5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494584,725,370 - 85,677,233 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365483,213,466 - 3,599,425 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365483,213,305 - 3,599,876 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SOX5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl549,504,551 - 50,161,558 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1549,159,950 - 50,166,463 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2553,008,491 - 53,806,316 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SOX5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11123,298,622 - 24,131,712 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1123,303,325 - 23,715,492 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606910,803,456 - 11,833,677 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sox5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475214,985,942 - 15,378,465 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475214,986,146 - 15,382,687 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SOX5
288 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006940.6(SOX5):c.1856A>G (p.Lys619Arg) single nucleotide variant Lamb-Shaffer syndrome [RCV001526476] Chr12:23536585 [GRCh38]
Chr12:23689519 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.1075G>A (p.Gly359Ser) single nucleotide variant Inborn genetic diseases [RCV002535045]|Lamb-Shaffer syndrome [RCV000723317]|not provided [RCV002263957] Chr12:23604476 [GRCh38]
Chr12:23757410 [GRCh37]
Chr12:12p12.1		 uncertain significance
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 copy number loss See cases [RCV000052776] Chr12:121055..28415184 [GRCh38]
Chr12:282465..28568117 [GRCh37]
Chr12:100482..28459384 [NCBI36]
Chr12:12p13.33-11.22		 pathogenic
GRCh38/hg38 12p12.3-11.23(chr12:19295848-27012560)x1 copy number loss See cases [RCV000052782] Chr12:19295848..27012560 [GRCh38]
Chr12:19448782..27165493 [GRCh37]
Chr12:19340049..27056760 [NCBI36]
Chr12:12p12.3-11.23		 pathogenic
GRCh38/hg38 12p12.1-11.21(chr12:21771052-32222232)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052783]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052783]|See cases [RCV000052783] Chr12:21771052..32222232 [GRCh38]
Chr12:21923986..32375166 [GRCh37]
Chr12:21815253..32266433 [NCBI36]
Chr12:12p12.1-11.21		 pathogenic
GRCh38/hg38 12p12.1(chr12:23815416-24068288)x1 copy number loss See cases [RCV000053278] Chr12:23815416..24068288 [GRCh38]
Chr12:23968350..24221222 [GRCh37]
Chr12:23859617..24112489 [NCBI36]
Chr12:12p12.1		 uncertain significance
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3 copy number gain See cases [RCV000053662] Chr12:80412..25470329 [GRCh38]
Chr12:282465..25623263 [GRCh37]
Chr12:59839..25514530 [NCBI36]
Chr12:12p13.33-12.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 copy number gain See cases [RCV000053666] Chr12:212976..33926913 [GRCh38]
Chr12:322142..34079848 [GRCh37]
Chr12:192403..33971115 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p12.3-12.1(chr12:18252085-25696258)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053670]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053670]|See cases [RCV000053670] Chr12:18252085..25696258 [GRCh38]
Chr12:18405019..25849192 [GRCh37]
Chr12:18296286..25740459 [NCBI36]
Chr12:12p12.3-12.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 copy number gain See cases [RCV000053660] Chr12:77187..34380176 [GRCh38]
Chr12:282465..34533111 [GRCh37]
Chr12:56614..34424378 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
NM_152989.3(SOX5):c.1732+2555A>G single nucleotide variant Lung cancer [RCV000110888] Chr12:23540656 [GRCh38]
Chr12:23693590 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_152989.3(SOX5):c.978+13519T>C single nucleotide variant Lung cancer [RCV000110889] Chr12:23627293 [GRCh38]
Chr12:23780227 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_152989.3(SOX5):c.771+5634T>C single nucleotide variant Lung cancer [RCV000110890] Chr12:23729050 [GRCh38]
Chr12:23881984 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_152989.3(SOX5):c.443-15089A>G single nucleotide variant Lung cancer [RCV000110891] Chr12:23770813 [GRCh38]
Chr12:23923747 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_152989.3(SOX5):c.-1-120095A>T single nucleotide variant Lung cancer [RCV000110892] Chr12:24016119 [GRCh38]
Chr12:24169053 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_152989.3(SOX5):c.-1-124070T>G single nucleotide variant Lung cancer [RCV000110893] Chr12:24020094 [GRCh38]
Chr12:24173028 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_152989.3(SOX5):c.-2+55515C>A single nucleotide variant Lung cancer [RCV000110894] Chr12:24221701 [GRCh38]
Chr12:24374635 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_152989.3(SOX5):c.-2+45773T>A single nucleotide variant Lung cancer [RCV000110895] Chr12:24231443 [GRCh38]
Chr12:24384377 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_152989.3(SOX5):c.-98-35848G>A single nucleotide variant Lung cancer [RCV000110896] Chr12:24313160 [GRCh38]
Chr12:24466094 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_152989.3(SOX5):c.-257-23579A>G single nucleotide variant Lung cancer [RCV000110897] Chr12:24431145 [GRCh38]
Chr12:24584079 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_152989.3(SOX5):c.-257-50486T>C single nucleotide variant Lung cancer [RCV000110898] Chr12:24458052 [GRCh38]
Chr12:24610986 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_152989.3(SOX5):c.-257-65910T>G single nucleotide variant Lung cancer [RCV000110899] Chr12:24473476 [GRCh38]
Chr12:24626410 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_152989.3(SOX5):c.-258+54741C>G single nucleotide variant Lung cancer [RCV000110900] Chr12:24507592 [GRCh38]
Chr12:24660526 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.1771+29G>A single nucleotide variant Lamb-Shaffer syndrome [RCV001807836]|not provided [RCV004707732] Chr12:23543182 [GRCh38]
Chr12:23696116 [GRCh37]
Chr12:12p12.1		 benign
GRCh38/hg38 12p12.3-12.1(chr12:19265334-25482589)x1 copy number loss See cases [RCV000135588] Chr12:19265334..25482589 [GRCh38]
Chr12:19418268..25635523 [GRCh37]
Chr12:19309535..25526790 [NCBI36]
Chr12:12p12.3-12.1		 likely pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 copy number gain See cases [RCV000136611] Chr12:121255..34603274 [GRCh38]
Chr12:282465..34756209 [GRCh37]
Chr12:100682..34647476 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p12.1(chr12:24513547-24799079)x3 copy number gain See cases [RCV000138347] Chr12:24513547..24799079 [GRCh38]
Chr12:24666481..24952013 [GRCh37]
Chr12:24557748..24843280 [NCBI36]
Chr12:12p12.1		 likely benign
GRCh38/hg38 12p12.1(chr12:23654646-23772057)x1 copy number loss See cases [RCV000138338] Chr12:23654646..23772057 [GRCh38]
Chr12:23807580..23924991 [GRCh37]
Chr12:23698847..23816258 [NCBI36]
Chr12:12p12.1		 uncertain significance
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 copy number gain See cases [RCV000139052] Chr12:121271..34603261 [GRCh38]
Chr12:282465..34756196 [GRCh37]
Chr12:100698..34647463 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p12.1(chr12:24461328-24496832)x3 copy number gain See cases [RCV000140009] Chr12:24461328..24496832 [GRCh38]
Chr12:24614262..24649766 [GRCh37]
Chr12:24505529..24541033 [NCBI36]
Chr12:12p12.1		 likely benign
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 copy number gain See cases [RCV000139787] Chr12:54427..34608071 [GRCh38]
Chr12:282465..34761006 [GRCh37]
Chr12:33854..34652273 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh38/hg38 12p12.1(chr12:23460257-24693739)x1 copy number loss See cases [RCV000141828] Chr12:23460257..24693739 [GRCh38]
Chr12:23613191..24846673 [GRCh37]
Chr12:23504458..24737940 [NCBI36]
Chr12:12p12.1		 likely pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 copy number gain See cases [RCV000142149] Chr12:64620..34682902 [GRCh38]
Chr12:173786..34835837 [GRCh37]
Chr12:44047..34727104 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p12.1(chr12:24552217-25193743)x3 copy number gain See cases [RCV000143315] Chr12:24552217..25193743 [GRCh38]
Chr12:24705151..25346677 [GRCh37]
Chr12:24596418..25237944 [NCBI36]
Chr12:12p12.1		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 copy number gain See cases [RCV000240164] Chr12:148034..34178799 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
NC_000012.12:g.23484745_23564581del deletion Lamb-Shaffer syndrome [RCV000207477] Chr12:23484745..23564581 [GRCh38]
Chr12:23637679..23717515 [GRCh37]
Chr12:12p12.1		 pathogenic
NM_006940.6(SOX5):c.1060G>T (p.Gly354Ter) single nucleotide variant Lamb-Shaffer syndrome [RCV000207472] Chr12:23604491 [GRCh38]
Chr12:23757425 [GRCh37]
Chr12:12p12.1		 pathogenic
NC_000012.11:g.23979791_24033225del deletion Lamb-Shaffer syndrome [RCV000207479] Chr12:23826857..23880291 [GRCh38]
Chr12:23979791..24033225 [GRCh37]
Chr12:12p12.1		 pathogenic
NC_000012.12:g.23771866_23888764del deletion Lamb-Shaffer syndrome [RCV000207475] Chr12:23771866..23888764 [GRCh38]
Chr12:23924800..24041698 [GRCh37]
Chr12:12p12.1		 pathogenic
NC_000012.12:g.23488792_23626279del deletion Lamb-Shaffer syndrome [RCV000207480] Chr12:23488792..23626279 [GRCh38]
Chr12:23641726..23779213 [GRCh37]
Chr12:12p12.1		 pathogenic
NM_006940.6(SOX5):c.1831C>G (p.Arg611Gly) single nucleotide variant Cerebral visual impairment and intellectual disability [RCV000210408] Chr12:23536610 [GRCh38]
Chr12:23689544 [GRCh37]
Chr12:12p12.1		 likely pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3 copy number gain See cases [RCV000240487] Chr12:89061..34178799 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_006940.6(SOX5):c.1597+2T>A single nucleotide variant Lamb-Shaffer syndrome [RCV000857296]|not provided [RCV000522399] Chr12:23546314 [GRCh38]
Chr12:23699248 [GRCh37]
Chr12:12p12.1		 pathogenic
NM_006940.6(SOX5):c.1164+2T>G single nucleotide variant not provided [RCV001092387] Chr12:23604385 [GRCh38]
Chr12:23757319 [GRCh37]
Chr12:12p12.1		 pathogenic
NM_006940.6(SOX5):c.637C>T (p.Arg213Ter) single nucleotide variant Lamb-Shaffer syndrome [RCV000656421]|not provided [RCV000599067] Chr12:23740971 [GRCh38]
Chr12:23893905 [GRCh37]
Chr12:12p12.1		 pathogenic|likely pathogenic
NM_006940.6(SOX5):c.2292A>G (p.Ter764Trp) single nucleotide variant not provided [RCV000599343] Chr12:23534219 [GRCh38]
Chr12:23687153 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.904C>T (p.Pro302Ser) single nucleotide variant Generalized hypotonia [RCV000414883] Chr12:23665471 [GRCh38]
Chr12:23818405 [GRCh37]
Chr12:12p12.1		 likely pathogenic
NM_006940.6(SOX5):c.482-2A>C single nucleotide variant Lamb-Shaffer syndrome [RCV001198297]|Strabismus [RCV000414904] Chr12:23755726 [GRCh38]
Chr12:23908660 [GRCh37]
Chr12:12p12.1		 likely pathogenic
GRCh37/hg19 12p12.1(chr12:24686645-25353987)x3 copy number gain See cases [RCV000449381] Chr12:24686645..25353987 [GRCh37]
Chr12:12p12.1		 uncertain significance
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 copy number gain See cases [RCV000449191] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3 copy number gain See cases [RCV000449287] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain See cases [RCV000447551] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p12.1(chr12:22735149-24052760)x1 copy number loss See cases [RCV000447194] Chr12:22735149..24052760 [GRCh37]
Chr12:12p12.1		 pathogenic
GRCh37/hg19 12p12.3-11.23(chr12:18037107-26681362)x3 copy number gain See cases [RCV000446008] Chr12:18037107..26681362 [GRCh37]
Chr12:12p12.3-11.23		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) copy number gain See cases [RCV000446017] Chr12:189578..34756150 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_006940.6(SOX5):c.1895C>A (p.Thr632Asn) single nucleotide variant Intellectual disability [RCV000857307]|Lamb-Shaffer syndrome [RCV000496163] Chr12:23536546 [GRCh38]
Chr12:23689480 [GRCh37]
Chr12:12p12.1		 likely pathogenic|uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p12.1(chr12:24687132-25353987)x3 copy number gain See cases [RCV000510169] Chr12:24687132..25353987 [GRCh37]
Chr12:12p12.1		 likely benign
GRCh37/hg19 12p12.1(chr12:23674558-23735393)x1 copy number loss See cases [RCV000511963] Chr12:23674558..23735393 [GRCh37]
Chr12:12p12.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3 copy number gain See cases [RCV000511580] Chr12:565369..34835837 [GRCh37]
Chr12:12p13.33-11.1		 likely pathogenic
GRCh37/hg19 12p12.1(chr12:23899592-24266672)x1 copy number loss See cases [RCV000511638] Chr12:23899592..24266672 [GRCh37]
Chr12:12p12.1		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3 copy number gain See cases [RCV000510961] Chr12:173786..28219229 [GRCh37]
Chr12:12p13.33-11.22		 pathogenic
NM_006940.6(SOX5):c.747_748del (p.Arg250fs) deletion Inborn genetic diseases [RCV000624452]|Lamb-Shaffer syndrome [RCV000857291] Chr12:23734746..23734747 [GRCh38]
Chr12:23887680..23887681 [GRCh37]
Chr12:12p12.1		 pathogenic
NM_006940.6(SOX5):c.622C>T (p.Gln208Ter) single nucleotide variant Inborn genetic diseases [RCV001266893]|Lamb-Shaffer syndrome [RCV000656552] Chr12:23740986 [GRCh38]
Chr12:23893920 [GRCh37]
Chr12:12p12.1		 pathogenic
Single allele deletion Optic nerve hypoplasia [RCV000677251] Chr12:23279750..23620758 [GRCh38]
Chr12:23432684..23773692 [GRCh37]
Chr12:12p12.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 copy number gain not provided [RCV000683478] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p12.1(chr12:24520231-24818312)x3 copy number gain not provided [RCV000683419] Chr12:24520231..24818312 [GRCh37]
Chr12:12p12.1		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain not provided [RCV000683479] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p12.1(chr12:23753715-23776824)x1 copy number loss not provided [RCV000683376] Chr12:23753715..23776824 [GRCh37]
Chr12:12p12.1		 likely pathogenic
GRCh37/hg19 12p12.1(chr12:24559681-24595270)x1 copy number loss not provided [RCV000683377] Chr12:24559681..24595270 [GRCh37]
Chr12:12p12.1		 likely pathogenic|uncertain significance
GRCh37/hg19 12p12.1(chr12:24351933-24436553)x1 copy number loss not provided [RCV000683389] Chr12:24351933..24436553 [GRCh37]
Chr12:12p12.1		 likely pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 copy number gain not provided [RCV000683480] Chr12:173786..37869107 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p12.1(chr12:23770460-23777466)x1 copy number loss not provided [RCV000737809] Chr12:23770460..23777466 [GRCh37]
Chr12:12p12.1		 benign
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3 copy number gain not provided [RCV000750245] Chr12:191619..31733044 [GRCh37]
Chr12:12p13.33-11.21		 pathogenic
GRCh37/hg19 12p12.1(chr12:23937856-23939988)x1 copy number loss not provided [RCV000750326] Chr12:23937856..23939988 [GRCh37]
Chr12:12p12.1		 benign
GRCh37/hg19 12p12.1(chr12:23937856-23949396)x1 copy number loss not provided [RCV000750327] Chr12:23937856..23949396 [GRCh37]
Chr12:12p12.1		 benign
GRCh37/hg19 12p12.1(chr12:23937856-23949888)x1 copy number loss not provided [RCV000750328] Chr12:23937856..23949888 [GRCh37]
Chr12:12p12.1		 benign
GRCh37/hg19 12p12.1(chr12:23939552-23939988)x1 copy number loss not provided [RCV000750329] Chr12:23939552..23939988 [GRCh37]
Chr12:12p12.1		 benign
GRCh37/hg19 12p12.1(chr12:23957847-23966615)x3 copy number gain not provided [RCV000750330] Chr12:23957847..23966615 [GRCh37]
Chr12:12p12.1		 benign
GRCh37/hg19 12p12.1(chr12:23960043-23962030)x1 copy number loss not provided [RCV000750331] Chr12:23960043..23962030 [GRCh37]
Chr12:12p12.1		 benign
GRCh37/hg19 12p12.1(chr12:23961602-23966615)x4 copy number gain not provided [RCV000750332] Chr12:23961602..23966615 [GRCh37]
Chr12:12p12.1		 benign
GRCh37/hg19 12p12.1(chr12:24033869-24040558)x1 copy number loss not provided [RCV000750333] Chr12:24033869..24040558 [GRCh37]
Chr12:12p12.1		 benign
GRCh37/hg19 12p12.1(chr12:24142692-24159889)x4 copy number gain not provided [RCV000750334] Chr12:24142692..24159889 [GRCh37]
Chr12:12p12.1		 benign
GRCh37/hg19 12p12.1(chr12:24144297-24159889)x3 copy number gain not provided [RCV000750335] Chr12:24144297..24159889 [GRCh37]
Chr12:12p12.1		 benign
GRCh37/hg19 12p12.1(chr12:24155321-24159889)x3 copy number gain not provided [RCV000750336] Chr12:24155321..24159889 [GRCh37]
Chr12:12p12.1		 benign
GRCh37/hg19 12p12.1(chr12:24690628-25356709)x3 copy number gain not provided [RCV000750337] Chr12:24690628..25356709 [GRCh37]
Chr12:12p12.1		 likely benign
NM_006940.6(SOX5):c.1977C>A (p.Tyr659Ter) single nucleotide variant not provided [RCV001572445] Chr12:23536464 [GRCh38]
Chr12:23689398 [GRCh37]
Chr12:12p12.1		 likely pathogenic
NM_006940.6(SOX5):c.1107A>G (p.Val369=) single nucleotide variant not provided [RCV000895341] Chr12:23604444 [GRCh38]
Chr12:23757378 [GRCh37]
Chr12:12p12.1		 likely benign
NM_006940.6(SOX5):c.1711C>T (p.Arg571Trp) single nucleotide variant Lamb-Shaffer syndrome [RCV000760248]|not provided [RCV001528357] Chr12:23543271 [GRCh38]
Chr12:23696205 [GRCh37]
Chr12:12p12.1		 pathogenic|likely pathogenic|uncertain significance
NM_006940.6(SOX5):c.1712G>A (p.Arg571Gln) single nucleotide variant Lamb-Shaffer syndrome [RCV003314168] Chr12:23543270 [GRCh38]
Chr12:23696204 [GRCh37]
Chr12:12p12.1		 pathogenic
NM_006940.6(SOX5):c.477G>A (p.Pro159=) single nucleotide variant not provided [RCV000923891] Chr12:23845987 [GRCh38]
Chr12:23998921 [GRCh37]
Chr12:12p12.1		 benign
NM_006940.6(SOX5):c.569-5T>C single nucleotide variant not provided [RCV000906063] Chr12:23741044 [GRCh38]
Chr12:23893978 [GRCh37]
Chr12:12p12.1		 likely benign
NM_006940.6(SOX5):c.441G>A (p.Lys147=) single nucleotide variant not provided [RCV000971793] Chr12:23846023 [GRCh38]
Chr12:23998957 [GRCh37]
Chr12:12p12.1		 likely benign
NM_006940.6(SOX5):c.630C>A (p.Thr210=) single nucleotide variant SOX5-related disorder [RCV003935981]|not provided [RCV000964330] Chr12:23740978 [GRCh38]
Chr12:23893912 [GRCh37]
Chr12:12p12.1		 benign
GRCh37/hg19 12p12.1(chr12:23457173-25177321)x1 copy number loss Lamb-Shaffer syndrome [RCV000857286] Chr12:23457173..25177321 [GRCh37]
Chr12:12p12.1		 pathogenic
GRCh37/hg19 12p12.1(chr12:23685093-23728869)x1 copy number loss Lamb-Shaffer syndrome [RCV000857289] Chr12:23685093..23728869 [GRCh37]
Chr12:12p12.1		 pathogenic
NM_006940.6(SOX5):c.820C>T (p.Gln274Ter) single nucleotide variant Lamb-Shaffer syndrome [RCV000857292] Chr12:23665555 [GRCh38]
Chr12:23818489 [GRCh37]
Chr12:12p12.1		 pathogenic
NM_006940.6(SOX5):c.1477C>T (p.Arg493Ter) single nucleotide variant Inborn genetic diseases [RCV001266340]|Lamb-Shaffer syndrome [RCV000857295]|not provided [RCV001007985] Chr12:23563269 [GRCh38]
Chr12:23716203 [GRCh37]
Chr12:12p12.1		 pathogenic
NM_006940.6(SOX5):c.1613C>G (p.Ser538Ter) single nucleotide variant Inborn genetic diseases [RCV002536217]|Lamb-Shaffer syndrome [RCV000857297] Chr12:23543369 [GRCh38]
Chr12:23696303 [GRCh37]
Chr12:12p12.1		 pathogenic
NM_006940.6(SOX5):c.1712G>T (p.Arg571Leu) single nucleotide variant Intellectual disability [RCV001260859]|Lamb-Shaffer syndrome [RCV000857300] Chr12:23543270 [GRCh38]
Chr12:23696204 [GRCh37]
Chr12:12p12.1		 likely pathogenic|uncertain significance
NM_006940.6(SOX5):c.660C>T (p.His220=) single nucleotide variant not provided [RCV000928115] Chr12:23740948 [GRCh38]
Chr12:23893882 [GRCh37]
Chr12:12p12.1		 likely benign
NM_006940.6(SOX5):c.1465dup (p.Leu489fs) duplication Lamb-Shaffer syndrome [RCV000857294] Chr12:23563280..23563281 [GRCh38]
Chr12:23716214..23716215 [GRCh37]
Chr12:12p12.1		 pathogenic
NM_006940.6(SOX5):c.703C>T (p.Arg235Cys) single nucleotide variant Tourette syndrome [RCV000857305] Chr12:23740905 [GRCh38]
Chr12:23893839 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.1308G>A (p.Ala436=) single nucleotide variant not provided [RCV000906262] Chr12:23575695 [GRCh38]
Chr12:23728629 [GRCh37]
Chr12:12p12.1		 likely benign
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 copy number gain not provided [RCV001006470] Chr12:274676..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p12.1(chr12:22602778-25225668)x1 copy number loss Lamb-Shaffer syndrome [RCV000856634] Chr12:22602778..25225668 [GRCh37]
Chr12:12p12.1		 pathogenic
NM_006940.6(SOX5):c.1814A>C (p.Tyr605Ser) single nucleotide variant Lamb-Shaffer syndrome [RCV000995882] Chr12:23536627 [GRCh38]
Chr12:23689561 [GRCh37]
Chr12:12p12.1		 likely pathogenic
NM_006940.6(SOX5):c.164A>G (p.His55Arg) single nucleotide variant not provided [RCV001036475] Chr12:23895899 [GRCh38]
Chr12:24048833 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.1764G>C (p.Lys588Asn) single nucleotide variant not provided [RCV000782093] Chr12:23543218 [GRCh38]
Chr12:23696152 [GRCh37]
Chr12:12p12.1		 likely pathogenic
NM_006940.6(SOX5):c.657C>T (p.Ala219=) single nucleotide variant not provided [RCV000981813] Chr12:23740951 [GRCh38]
Chr12:23893885 [GRCh37]
Chr12:12p12.1		 likely benign
NM_006940.6(SOX5):c.2028G>A (p.Val676=) single nucleotide variant not provided [RCV000922683] Chr12:23534483 [GRCh38]
Chr12:23687417 [GRCh37]
Chr12:12p12.1		 likely benign
GRCh37/hg19 12p12.1(chr12:23773664-23893799)x1 copy number loss Lamb-Shaffer syndrome [RCV000857287] Chr12:23773664..23893799 [GRCh37]
Chr12:12p12.1		 pathogenic
NM_006940.6(SOX5):c.1814A>G (p.Tyr605Cys) single nucleotide variant Lamb-Shaffer syndrome [RCV000857302]|not provided [RCV003232136] Chr12:23536627 [GRCh38]
Chr12:23689561 [GRCh37]
Chr12:12p12.1		 pathogenic
NM_006940.6(SOX5):c.651G>A (p.Leu217=) single nucleotide variant SOX5-related disorder [RCV003935912]|not provided [RCV000959261] Chr12:23740957 [GRCh38]
Chr12:23893891 [GRCh37]
Chr12:12p12.1		 benign|likely benign
NM_006940.6(SOX5):c.2079G>A (p.Ser693=) single nucleotide variant not provided [RCV000893946] Chr12:23534432 [GRCh38]
Chr12:23687366 [GRCh37]
Chr12:12p12.1		 benign
NM_006940.6(SOX5):c.2217C>T (p.Tyr739=) single nucleotide variant not provided [RCV000977792] Chr12:23534294 [GRCh38]
Chr12:23687228 [GRCh37]
Chr12:12p12.1		 likely benign
GRCh37/hg19 12p12.1(chr12:23723120-23908799)x1 copy number loss Lamb-Shaffer syndrome [RCV000857284] Chr12:23723120..23908799 [GRCh37]
Chr12:12p12.1		 pathogenic
NM_006940.6(SOX5):c.518G>A (p.Trp173Ter) single nucleotide variant Lamb-Shaffer syndrome [RCV000857290]|not provided [RCV003329350] Chr12:23755688 [GRCh38]
Chr12:23908622 [GRCh37]
Chr12:12p12.1		 pathogenic
NM_006940.6(SOX5):c.1681A>C (p.Asn561His) single nucleotide variant Lamb-Shaffer syndrome [RCV000857299] Chr12:23543301 [GRCh38]
Chr12:23696235 [GRCh37]
Chr12:12p12.1		 pathogenic|likely pathogenic
NM_006940.6(SOX5):c.1782G>A (p.Trp594Ter) single nucleotide variant Lamb-Shaffer syndrome [RCV000857301]|not provided [RCV002307637] Chr12:23536659 [GRCh38]
Chr12:23689593 [GRCh37]
Chr12:12p12.1		 pathogenic
NM_006940.6(SOX5):c.1050G>C (p.Gln350His) single nucleotide variant Lamb-Shaffer syndrome [RCV000784985] Chr12:23604501 [GRCh38]
Chr12:23757435 [GRCh37]
Chr12:12p12.1		 uncertain significance
GRCh37/hg19 12p12.3-11.23(chr12:16141429-27733325)x1 copy number loss not provided [RCV000849815] Chr12:16141429..27733325 [GRCh37]
Chr12:12p12.3-11.23		 pathogenic
NM_006940.6(SOX5):c.849C>T (p.Phe283=) single nucleotide variant not provided [RCV000896507] Chr12:23665526 [GRCh38]
Chr12:23818460 [GRCh37]
Chr12:12p12.1		 likely benign
GRCh37/hg19 12p12.1(chr12:24561349-24595270)x1 copy number loss not provided [RCV000846390] Chr12:24561349..24595270 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.519G>A (p.Trp173Ter) single nucleotide variant not provided [RCV001092388] Chr12:23755687 [GRCh38]
Chr12:23908621 [GRCh37]
Chr12:12p12.1		 pathogenic
GRCh37/hg19 12p12.1(chr12:24270547-24418670)x1 copy number loss not provided [RCV000846534] Chr12:24270547..24418670 [GRCh37]
Chr12:12p12.1		 uncertain significance
GRCh37/hg19 12p12.1(chr12:24102502-24173232)x1 copy number loss Lamb-Shaffer syndrome [RCV000857283] Chr12:24102502..24173232 [GRCh37]
Chr12:12p12.1		 pathogenic
GRCh37/hg19 12p12.1(chr12:23718347-23769414)x1 copy number loss Lamb-Shaffer syndrome [RCV000857288] Chr12:23718347..23769414 [GRCh37]
Chr12:12p12.1		 pathogenic
NM_006940.6(SOX5):c.1678A>G (p.Met560Val) single nucleotide variant Inborn genetic diseases [RCV001265682]|Lamb-Shaffer syndrome [RCV000857298]|Neurodevelopmental delay [RCV002274106]|not provided [RCV000994876] Chr12:23543304 [GRCh38]
Chr12:23696238 [GRCh37]
Chr12:12p12.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 12p12.1(chr12:23689580-23783298)x1 copy number loss not provided [RCV000848088] Chr12:23689580..23783298 [GRCh37]
Chr12:12p12.1		 pathogenic
NM_006940.6(SOX5):c.1672C>T (p.Arg558Cys) single nucleotide variant Lamb-Shaffer syndrome [RCV003230613]|not provided [RCV000994877] Chr12:23543310 [GRCh38]
Chr12:23696244 [GRCh37]
Chr12:12p12.1		 likely pathogenic|uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3 copy number gain not provided [RCV000847209] Chr12:173786..34496628 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_006940.6(SOX5):c.1789A>G (p.Met597Val) single nucleotide variant Lamb-Shaffer syndrome [RCV001095675] Chr12:23536652 [GRCh38]
Chr12:23689586 [GRCh37]
Chr12:12p12.1		 likely pathogenic
NM_006940.6(SOX5):c.539T>C (p.Met180Thr) single nucleotide variant Inborn genetic diseases [RCV003291766] Chr12:23755667 [GRCh38]
Chr12:23908601 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.811-4G>A single nucleotide variant not specified [RCV003231025] Chr12:23665568 [GRCh38]
Chr12:23818502 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.558C>T (p.Gly186=) single nucleotide variant SOX5-related disorder [RCV003910670]|not provided [RCV000895806] Chr12:23755648 [GRCh38]
Chr12:23908582 [GRCh37]
Chr12:12p12.1		 benign|likely benign
GRCh37/hg19 12p12.1(chr12:23147341-23893799)x1 copy number loss Lamb-Shaffer syndrome [RCV000857285] Chr12:23147341..23893799 [GRCh37]
Chr12:12p12.1		 pathogenic
NM_006940.6(SOX5):c.1819G>T (p.Glu607Ter) single nucleotide variant Lamb-Shaffer syndrome [RCV000857303] Chr12:23536622 [GRCh38]
Chr12:23689556 [GRCh37]
Chr12:12p12.1		 pathogenic
NM_006940.6(SOX5):c.1411C>T (p.Arg471Ter) single nucleotide variant Lamb-Shaffer syndrome [RCV000857293] Chr12:23563335 [GRCh38]
Chr12:23716269 [GRCh37]
Chr12:12p12.1		 pathogenic|likely pathogenic
NM_006940.6(SOX5):c.1868A>G (p.Tyr623Cys) single nucleotide variant Lamb-Shaffer syndrome [RCV000857304]|not provided [RCV002225751] Chr12:23536573 [GRCh38]
Chr12:23689507 [GRCh37]
Chr12:12p12.1		 pathogenic|likely pathogenic
NM_006940.6(SOX5):c.1929T>G (p.Gly643=) single nucleotide variant not provided [RCV000930577] Chr12:23536512 [GRCh38]
Chr12:23689446 [GRCh37]
Chr12:12p12.1		 likely benign
NM_006940.6(SOX5):c.928T>A (p.Cys310Ser) single nucleotide variant Intellectual disability [RCV000857306] Chr12:23665447 [GRCh38]
Chr12:23818381 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.2078C>T (p.Ser693Leu) single nucleotide variant Intellectual disability [RCV000857308] Chr12:23534433 [GRCh38]
Chr12:23687367 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.165T>C (p.His55=) single nucleotide variant not provided [RCV000953311] Chr12:23895898 [GRCh38]
Chr12:24048832 [GRCh37]
Chr12:12p12.1		 benign|likely benign
NM_006940.6(SOX5):c.750A>G (p.Arg250=) single nucleotide variant not provided [RCV000951123] Chr12:23734744 [GRCh38]
Chr12:23887678 [GRCh37]
Chr12:12p12.1		 benign|likely benign
NM_006940.6(SOX5):c.1673G>A (p.Arg558His) single nucleotide variant Lamb-Shaffer syndrome [RCV001249845]|not provided [RCV001575598] Chr12:23543309 [GRCh38]
Chr12:23696243 [GRCh37]
Chr12:12p12.1		 pathogenic|likely pathogenic
NM_006940.6(SOX5):c.795C>T (p.Leu265=) single nucleotide variant SOX5-related disorder [RCV003926056]|not provided [RCV000957054] Chr12:23734699 [GRCh38]
Chr12:23887633 [GRCh37]
Chr12:12p12.1		 benign
NM_006940.6(SOX5):c.687T>G (p.Ser229=) single nucleotide variant not provided [RCV000934165] Chr12:23740921 [GRCh38]
Chr12:23893855 [GRCh37]
Chr12:12p12.1		 likely benign
NM_006940.6(SOX5):c.914G>A (p.Ser305Asn) single nucleotide variant Lamb-Shaffer syndrome [RCV002470307] Chr12:23665461 [GRCh38]
Chr12:23818395 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.932-1G>C single nucleotide variant not provided [RCV001558830] Chr12:23640898 [GRCh38]
Chr12:23793832 [GRCh37]
Chr12:12p12.1		 pathogenic
GRCh37/hg19 12p12.1(chr12:24559682-24596697)x1 copy number loss not provided [RCV002472725] Chr12:24559682..24596697 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.1639C>T (p.Arg547Ter) single nucleotide variant not provided [RCV001723312] Chr12:23543343 [GRCh38]
Chr12:23696277 [GRCh37]
Chr12:12p12.1		 pathogenic
GRCh37/hg19 12p12.1(chr12:24347113-24471815)x1 copy number loss not provided [RCV001006492] Chr12:24347113..24471815 [GRCh37]
Chr12:12p12.1		 likely pathogenic
NM_006940.6(SOX5):c.1129G>A (p.Asp377Asn) single nucleotide variant Lamb-Shaffer syndrome [RCV001253373] Chr12:23604422 [GRCh38]
Chr12:23757356 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.1759A>T (p.Ser587Cys) single nucleotide variant Lamb-Shaffer syndrome [RCV001262570] Chr12:23543223 [GRCh38]
Chr12:23696157 [GRCh37]
Chr12:12p12.1		 pathogenic|likely pathogenic
NM_006940.6(SOX5):c.179A>G (p.Asn60Ser) single nucleotide variant Inborn genetic diseases [RCV001267208]|Lamb-Shaffer syndrome [RCV003135910] Chr12:23895884 [GRCh38]
Chr12:24048818 [GRCh37]
Chr12:12p12.1		 uncertain significance
GRCh37/hg19 12p12.1(chr12:21582333-24920271)x1 copy number loss not provided [RCV001258515] Chr12:21582333..24920271 [GRCh37]
Chr12:12p12.1		 pathogenic
NM_006940.6(SOX5):c.271-2781_481+537del deletion Global developmental delay [RCV001256035] Chr12:23845446..23848974 [GRCh38]
Chr12:23998380..24001908 [GRCh37]
Chr12:12p12.1		 likely pathogenic
NM_006940.4:c.1489-7709_1771+1399del deletion Intellectual disability [RCV001256056]   likely pathogenic
NM_006940.6(SOX5):c.616A>G (p.Ile206Val) single nucleotide variant Lamb-Shaffer syndrome [RCV001262394] Chr12:23740992 [GRCh38]
Chr12:23893926 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.559G>T (p.Glu187Ter) single nucleotide variant Intellectual disability [RCV001260816] Chr12:23755647 [GRCh38]
Chr12:23908581 [GRCh37]
Chr12:12p12.1		 likely pathogenic
NM_006940.6(SOX5):c.442C>T (p.Gln148Ter) single nucleotide variant not provided [RCV001268609] Chr12:23846022 [GRCh38]
Chr12:23998956 [GRCh37]
Chr12:12p12.1		 pathogenic
NM_006940.6(SOX5):c.1659del (p.Glu553fs) deletion not provided [RCV001268645] Chr12:23543323 [GRCh38]
Chr12:23696257 [GRCh37]
Chr12:12p12.1		 pathogenic
NM_006940.6(SOX5):c.931+1G>C single nucleotide variant Inborn genetic diseases [RCV001266385] Chr12:23665443 [GRCh38]
Chr12:23818377 [GRCh37]
Chr12:12p12.1		 pathogenic
NM_006940.6(SOX5):c.481+29A>G single nucleotide variant Lamb-Shaffer syndrome [RCV001807837]|not provided [RCV004709172] Chr12:23845954 [GRCh38]
Chr12:23998888 [GRCh37]
Chr12:12p12.1		 benign
NM_006940.6(SOX5):c.959del (p.Pro320fs) deletion Lamb-Shaffer syndrome [RCV001258342] Chr12:23640870 [GRCh38]
Chr12:23793804 [GRCh37]
Chr12:12p12.1		 pathogenic
NM_006940.6(SOX5):c.1280G>T (p.Gly427Val) single nucleotide variant Lamb-Shaffer syndrome [RCV001328559] Chr12:23575723 [GRCh38]
Chr12:23728657 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.251C>T (p.Thr84Ile) single nucleotide variant Lamb-Shaffer syndrome [RCV001328561] Chr12:23895812 [GRCh38]
Chr12:24048746 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.798G>T (p.Gln266His) single nucleotide variant Lamb-Shaffer syndrome [RCV001335502] Chr12:23734696 [GRCh38]
Chr12:23887630 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.352C>T (p.Arg118Ter) single nucleotide variant Lamb-Shaffer syndrome [RCV001542679]|See cases [RCV001420231] Chr12:23846112 [GRCh38]
Chr12:23999046 [GRCh37]
Chr12:12p12.1		 pathogenic
NM_006940.6(SOX5):c.211T>C (p.Ser71Pro) single nucleotide variant Lamb-Shaffer syndrome [RCV001328560] Chr12:23895852 [GRCh38]
Chr12:24048786 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.1226C>A (p.Pro409His) single nucleotide variant Lamb-Shaffer syndrome [RCV001335500] Chr12:23575777 [GRCh38]
Chr12:23728711 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.353G>T (p.Arg118Leu) single nucleotide variant Lamb-Shaffer syndrome [RCV001335501] Chr12:23846111 [GRCh38]
Chr12:23999045 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.755dup (p.Gln253fs) duplication Lamb-Shaffer syndrome [RCV001526654] Chr12:23734738..23734739 [GRCh38]
Chr12:23887672..23887673 [GRCh37]
Chr12:12p12.1		 pathogenic
NM_006940.6(SOX5):c.433dup (p.Thr145fs) duplication Lamb-Shaffer syndrome [RCV001731235] Chr12:23846030..23846031 [GRCh38]
Chr12:23998964..23998965 [GRCh37]
Chr12:12p12.1		 pathogenic
NM_006940.6(SOX5):c.1628A>G (p.Tyr543Cys) single nucleotide variant Autism spectrum disorder [RCV003128006] Chr12:23543354 [GRCh38]
Chr12:23696288 [GRCh37]
Chr12:12p12.1		 likely benign
NM_006940.6(SOX5):c.1801G>A (p.Glu601Lys) single nucleotide variant not provided [RCV003238071] Chr12:23536640 [GRCh38]
Chr12:23689574 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.361G>A (p.Gly121Ser) single nucleotide variant not provided [RCV001767190] Chr12:23846103 [GRCh38]
Chr12:23999037 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.1772-13C>T single nucleotide variant not provided [RCV003238086] Chr12:23536682 [GRCh38]
Chr12:23689616 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.1778G>A (p.Arg593His) single nucleotide variant not provided [RCV001765203] Chr12:23536663 [GRCh38]
Chr12:23689597 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.538A>G (p.Met180Val) single nucleotide variant not provided [RCV001774374] Chr12:23755668 [GRCh38]
Chr12:23908602 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.817G>A (p.Gly273Ser) single nucleotide variant not provided [RCV001757049] Chr12:23665558 [GRCh38]
Chr12:23818492 [GRCh37]
Chr12:12p12.1		 uncertain significance
GRCh37/hg19 12p12.1(chr12:23656814-23741624)x1 copy number loss not provided [RCV001834489] Chr12:23656814..23741624 [GRCh37]
Chr12:12p12.1		 pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865) copy number gain not specified [RCV002052955] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1		 pathogenic
GRCh37/hg19 12p12.1-11.22(chr12:23693737-29545102)x1 copy number loss not provided [RCV001827630] Chr12:23693737..29545102 [GRCh37]
Chr12:12p12.1-11.22		 pathogenic
GRCh37/hg19 12p12.3-11.23(chr12:17884992-26704895) copy number gain not specified [RCV002052974] Chr12:17884992..26704895 [GRCh37]
Chr12:12p12.3-11.23		 pathogenic
NM_006940.6(SOX5):c.668A>G (p.Gln223Arg) single nucleotide variant Developmental disorder [RCV001843719] Chr12:23740940 [GRCh38]
Chr12:23893874 [GRCh37]
Chr12:12p12.1		 likely benign
GRCh37/hg19 12p12.1(chr12:24686645-25353987) copy number gain not specified [RCV002052984] Chr12:24686645..25353987 [GRCh37]
Chr12:12p12.1		 uncertain significance
GRCh37/hg19 12p12.1(chr12:23594653-23814395) copy number loss not specified [RCV002052982] Chr12:23594653..23814395 [GRCh37]
Chr12:12p12.1		 pathogenic
GRCh37/hg19 12p12.1(chr12:24559681-24596697) copy number loss not specified [RCV002052983] Chr12:24559681..24596697 [GRCh37]
Chr12:12p12.1		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837) copy number gain not specified [RCV002052957] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_006940.6(SOX5):c.804G>T (p.Gln268His) single nucleotide variant Lamb-Shaffer syndrome [RCV001834559] Chr12:23734690 [GRCh38]
Chr12:23887624 [GRCh37]
Chr12:12p12.1		 likely benign
GRCh37/hg19 12p12.1(chr12:24559681-24596697)x1 copy number loss not provided [RCV001827971] Chr12:24559681..24596697 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.1748A>G (p.Asn583Ser) single nucleotide variant not provided [RCV002052397] Chr12:23543234 [GRCh38]
Chr12:23696168 [GRCh37]
Chr12:12p12.1		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301) copy number gain not specified [RCV002052958] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
NM_152989.5(SOX5):c.-175-344A>G single nucleotide variant Lamb-Shaffer syndrome [RCV001839190] Chr12:24368983 [GRCh38]
Chr12:24521917 [GRCh37]
Chr12:12p12.1		 uncertain significance
GRCh37/hg19 12p12.1(chr12:23537708-23757164)x1 copy number loss not provided [RCV001833073] Chr12:23537708..23757164 [GRCh37]
Chr12:12p12.1		 pathogenic
NM_006940.6(SOX5):c.811-2A>G single nucleotide variant not provided [RCV001923804] Chr12:23665566 [GRCh38]
Chr12:23818500 [GRCh37]
Chr12:12p12.1		 pathogenic
NM_006940.6(SOX5):c.1489-2A>G single nucleotide variant Lamb-Shaffer syndrome [RCV002246737] Chr12:23546426 [GRCh38]
Chr12:23699360 [GRCh37]
Chr12:12p12.1		 pathogenic
NM_006940.6(SOX5):c.1807C>T (p.Gln603Ter) single nucleotide variant Lamb-Shaffer syndrome [RCV002071014] Chr12:23536634 [GRCh38]
Chr12:23689568 [GRCh37]
Chr12:12p12.1		 pathogenic
NM_006940.6(SOX5):c.1583G>A (p.Ser528Asn) single nucleotide variant not provided [RCV002211215] Chr12:23546330 [GRCh38]
Chr12:23699264 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_152989.5(SOX5):c.-1-54837T>C single nucleotide variant not provided [RCV003312223] Chr12:23950861 [GRCh38]
Chr12:24103795 [GRCh37]
Chr12:12p12.1		 likely benign
NM_006940.6(SOX5):c.988A>G (p.Thr330Ala) single nucleotide variant Lamb-Shaffer syndrome [RCV002272803] Chr12:23640841 [GRCh38]
Chr12:23793775 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.782A>G (p.Lys261Arg) single nucleotide variant not provided [RCV003128998] Chr12:23734712 [GRCh38]
Chr12:23887646 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.1694T>A (p.Val565Glu) single nucleotide variant Lamb-Shaffer syndrome [RCV003149127] Chr12:23543288 [GRCh38]
Chr12:23696222 [GRCh37]
Chr12:12p12.1		 likely pathogenic
NM_006940.6(SOX5):c.1346A>G (p.Tyr449Cys) single nucleotide variant not provided [RCV002275492] Chr12:23563400 [GRCh38]
Chr12:23716334 [GRCh37]
Chr12:12p12.1		 likely benign
NM_006940.4:c.482_810del deletion Neurodevelopmental delay [RCV002274375]   pathogenic
NM_006940.6(SOX5):c.1749C>T (p.Asn583=) single nucleotide variant not provided [RCV002275980] Chr12:23543233 [GRCh38]
Chr12:23696167 [GRCh37]
Chr12:12p12.1		 likely benign
NM_006940.6(SOX5):c.1343-4733C>T single nucleotide variant Lamb-Shaffer syndrome [RCV002266590] Chr12:23568136 [GRCh38]
Chr12:23721070 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_152989.5(SOX5):c.-1-87764T>C single nucleotide variant Lamb-Shaffer syndrome [RCV002266613] Chr12:23983788 [GRCh38]
Chr12:24136722 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.1136del (p.Ser379fs) deletion Lamb-Shaffer syndrome [RCV002289247] Chr12:23604415 [GRCh38]
Chr12:23757349 [GRCh37]
Chr12:12p12.1		 pathogenic
NM_006940.6(SOX5):c.932-2A>C single nucleotide variant Lamb-Shaffer syndrome [RCV002290129] Chr12:23640899 [GRCh38]
Chr12:23793833 [GRCh37]
Chr12:12p12.1		 likely pathogenic
NM_006940.6(SOX5):c.783A>C (p.Lys261Asn) single nucleotide variant not provided [RCV002286894] Chr12:23734711 [GRCh38]
Chr12:23887645 [GRCh37]
Chr12:12p12.1		 uncertain significance
GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)x1 copy number loss not provided [RCV002292878] Chr12:10853887..24103810 [GRCh37]
Chr12:12p13.2-12.1		 pathogenic
NM_006940.6(SOX5):c.1017G>A (p.Gln339=) single nucleotide variant Lamb-Shaffer syndrome [RCV002266582] Chr12:23640812 [GRCh38]
Chr12:23793746 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.1292C>T (p.Ala431Val) single nucleotide variant Lamb-Shaffer syndrome [RCV002291203] Chr12:23575711 [GRCh38]
Chr12:23728645 [GRCh37]
Chr12:12p12.1		 uncertain significance
GRCh37/hg19 12p12.1(chr12:24472336-24597786)x1 copy number loss not provided [RCV002474791] Chr12:24472336..24597786 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.1357C>T (p.His453Tyr) single nucleotide variant not provided [RCV002469641] Chr12:23563389 [GRCh38]
Chr12:23716323 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.23C>T (p.Pro8Leu) single nucleotide variant not provided [RCV002300703] Chr12:23949579 [GRCh38]
Chr12:24102513 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.1697G>A (p.Trp566Ter) single nucleotide variant not provided [RCV002511726] Chr12:23543285 [GRCh38]
Chr12:23696219 [GRCh37]
Chr12:12p12.1		 pathogenic
NM_006940.6(SOX5):c.266C>A (p.Thr89Lys) single nucleotide variant not provided [RCV002511428] Chr12:23895797 [GRCh38]
Chr12:24048731 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.5T>G (p.Leu2Arg) single nucleotide variant Lamb-Shaffer syndrome [RCV003142351]|not provided [RCV003156406] Chr12:23949597 [GRCh38]
Chr12:24102531 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.1235C>T (p.Pro412Leu) single nucleotide variant Inborn genetic diseases [RCV002905205] Chr12:23575768 [GRCh38]
Chr12:23728702 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.1913A>G (p.Lys638Arg) single nucleotide variant not provided [RCV003053980] Chr12:23536528 [GRCh38]
Chr12:23689462 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.184C>T (p.Pro62Ser) single nucleotide variant Inborn genetic diseases [RCV002708287] Chr12:23895879 [GRCh38]
Chr12:24048813 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.1280G>A (p.Gly427Asp) single nucleotide variant Inborn genetic diseases [RCV002977557]|Lamb-Shaffer syndrome [RCV003140198]|not provided [RCV003992731] Chr12:23575723 [GRCh38]
Chr12:23728657 [GRCh37]
Chr12:12p12.1		 likely benign|uncertain significance
NM_006940.6(SOX5):c.131G>A (p.Ser44Asn) single nucleotide variant Inborn genetic diseases [RCV002693071] Chr12:23895932 [GRCh38]
Chr12:24048866 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.704G>A (p.Arg235His) single nucleotide variant Inborn genetic diseases [RCV002978837] Chr12:23740904 [GRCh38]
Chr12:23893838 [GRCh37]
Chr12:12p12.1		 likely benign
NM_006940.6(SOX5):c.239A>G (p.His80Arg) single nucleotide variant Inborn genetic diseases [RCV002798553] Chr12:23895824 [GRCh38]
Chr12:24048758 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.1373A>G (p.Lys458Arg) single nucleotide variant Inborn genetic diseases [RCV002935112]|SOX5-related disorder [RCV003984343] Chr12:23563373 [GRCh38]
Chr12:23716307 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.2221G>A (p.Glu741Lys) single nucleotide variant Inborn genetic diseases [RCV002940120] Chr12:23534290 [GRCh38]
Chr12:23687224 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.683C>T (p.Ala228Val) single nucleotide variant Inborn genetic diseases [RCV002896284] Chr12:23740925 [GRCh38]
Chr12:23893859 [GRCh37]
Chr12:12p12.1		 likely benign
NM_006940.6(SOX5):c.721del (p.Ala241fs) deletion Lamb-Shaffer syndrome [RCV003152855] Chr12:23740887 [GRCh38]
Chr12:23893821 [GRCh37]
Chr12:12p12.1		 likely pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4 copy number gain Pallister-Killian syndrome [RCV003154827] Chr12:176047..34179852 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_006940.6(SOX5):c.1864G>A (p.Asp622Asn) single nucleotide variant Lamb-Shaffer syndrome [RCV003225005]|not provided [RCV004721166] Chr12:23536577 [GRCh38]
Chr12:23689511 [GRCh37]
Chr12:12p12.1		 likely pathogenic|uncertain significance
NM_006940.6(SOX5):c.485C>T (p.Thr162Ile) single nucleotide variant Inborn genetic diseases [RCV003216200] Chr12:23755721 [GRCh38]
Chr12:23908655 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.2092G>A (p.Val698Met) single nucleotide variant Inborn genetic diseases [RCV004285582]|not provided [RCV003222756] Chr12:23534419 [GRCh38]
Chr12:23687353 [GRCh37]
Chr12:12p12.1		 likely benign|uncertain significance
NM_006940.6(SOX5):c.1596T>G (p.Asp532Glu) single nucleotide variant not provided [RCV003222757] Chr12:23546317 [GRCh38]
Chr12:23699251 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.892T>C (p.Phe298Leu) single nucleotide variant Inborn genetic diseases [RCV003186204] Chr12:23665483 [GRCh38]
Chr12:23818417 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.576C>T (p.Pro192=) single nucleotide variant Lamb-Shaffer syndrome [RCV003138596] Chr12:23741032 [GRCh38]
Chr12:23893966 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.1303G>T (p.Ala435Ser) single nucleotide variant Lamb-Shaffer syndrome [RCV003138597] Chr12:23575700 [GRCh38]
Chr12:23728634 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.693T>G (p.Ile231Met) single nucleotide variant Lamb-Shaffer syndrome [RCV003138598] Chr12:23740915 [GRCh38]
Chr12:23893849 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.913A>G (p.Ser305Gly) single nucleotide variant Lamb-Shaffer syndrome [RCV003138599] Chr12:23665462 [GRCh38]
Chr12:23818396 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.2149G>A (p.Gly717Arg) single nucleotide variant Lamb-Shaffer syndrome [RCV003138600] Chr12:23534362 [GRCh38]
Chr12:23687296 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.956del (p.Ile319fs) deletion Lamb-Shaffer syndrome [RCV003140594] Chr12:23640873 [GRCh38]
Chr12:23793807 [GRCh37]
Chr12:12p12.1		 likely pathogenic
NM_006940.6(SOX5):c.814C>T (p.Gln272Ter) single nucleotide variant Lamb-Shaffer syndrome [RCV003159539] Chr12:23665561 [GRCh38]
Chr12:23818495 [GRCh37]
Chr12:12p12.1		 likely pathogenic
NM_006940.6(SOX5):c.1676C>T (p.Pro559Leu) single nucleotide variant not provided [RCV003228397] Chr12:23543306 [GRCh38]
Chr12:23696240 [GRCh37]
Chr12:12p12.1		 pathogenic
NM_006940.6(SOX5):c.1337_1338dup (p.Ile447fs) microsatellite not provided [RCV003319876] Chr12:23575664..23575665 [GRCh38]
Chr12:23728598..23728599 [GRCh37]
Chr12:12p12.1		 pathogenic
NM_006940.6(SOX5):c.1165-8709T>C single nucleotide variant SOX5-related disorder [RCV003906696]|not provided [RCV003326853] Chr12:23584547 [GRCh38]
Chr12:23737481 [GRCh37]
Chr12:12p12.1		 benign
NM_006940.6(SOX5):c.270+4G>A single nucleotide variant not provided [RCV003329679] Chr12:23895789 [GRCh38]
Chr12:24048723 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.291del (p.Met98fs) deletion Lamb-Shaffer syndrome [RCV003325929] Chr12:23846173 [GRCh38]
Chr12:23999107 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.119A>G (p.Glu40Gly) single nucleotide variant Inborn genetic diseases [RCV003354559] Chr12:23895944 [GRCh38]
Chr12:24048878 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.331C>G (p.Gln111Glu) single nucleotide variant Inborn genetic diseases [RCV003373274] Chr12:23846133 [GRCh38]
Chr12:23999067 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.1586G>C (p.Gly529Ala) single nucleotide variant not provided [RCV003456800] Chr12:23546327 [GRCh38]
Chr12:23699261 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.227A>C (p.Glu76Ala) single nucleotide variant Inborn genetic diseases [RCV003383558] Chr12:23895836 [GRCh38]
Chr12:24048770 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.392del (p.Thr131fs) deletion Lamb-Shaffer syndrome [RCV003494544] Chr12:23846072 [GRCh38]
Chr12:23999006 [GRCh37]
Chr12:12p12.1		 likely pathogenic
Single allele duplication not provided [RCV003448692] Chr12:188053..34856694 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_006940.6(SOX5):c.347G>C (p.Gly116Ala) single nucleotide variant Lamb-Shaffer syndrome [RCV003448612] Chr12:23846117 [GRCh38]
Chr12:23999051 [GRCh37]
Chr12:12p12.1		 uncertain significance
GRCh37/hg19 12p12.1(chr12:23594097-23768820)x1 copy number loss not provided [RCV003483152] Chr12:23594097..23768820 [GRCh37]
Chr12:12p12.1		 pathogenic
GRCh37/hg19 12p12.1(chr12:24500946-24624973)x1 copy number loss not provided [RCV003483153] Chr12:24500946..24624973 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.546G>A (p.Ser182=) single nucleotide variant not provided [RCV003390193] Chr12:23755660 [GRCh38]
Chr12:23908594 [GRCh37]
Chr12:12p12.1		 likely benign
NM_006940.6(SOX5):c.481+5A>G single nucleotide variant not provided [RCV003390194] Chr12:23845978 [GRCh38]
Chr12:23998912 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.-5C>G single nucleotide variant not provided [RCV003390195] Chr12:23949606 [GRCh38]
Chr12:24102540 [GRCh37]
Chr12:12p12.1		 likely benign
NM_006940.6(SOX5):c.700C>T (p.Gln234Ter) single nucleotide variant not provided [RCV003396277] Chr12:23740908 [GRCh38]
Chr12:23893842 [GRCh37]
Chr12:12p12.1		 pathogenic
NM_006940.6(SOX5):c.363C>T (p.Gly121=) single nucleotide variant not provided [RCV003396278] Chr12:23846101 [GRCh38]
Chr12:23999035 [GRCh37]
Chr12:12p12.1		 likely benign
NM_006940.6(SOX5):c.2252G>T (p.Gly751Val) single nucleotide variant not provided [RCV003396276] Chr12:23534259 [GRCh38]
Chr12:23687193 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.982G>A (p.Ala328Thr) single nucleotide variant not specified [RCV003405168] Chr12:23640847 [GRCh38]
Chr12:23793781 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.1433A>T (p.Asp478Val) single nucleotide variant SOX5-related disorder [RCV003414282] Chr12:23563313 [GRCh38]
Chr12:23716247 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.225A>G (p.Gln75=) single nucleotide variant SOX5-related disorder [RCV003402427] Chr12:23895838 [GRCh38]
Chr12:24048772 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.1448T>C (p.Val483Ala) single nucleotide variant SOX5-related disorder [RCV003399969] Chr12:23563298 [GRCh38]
Chr12:23716232 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.1760G>C (p.Ser587Thr) single nucleotide variant SOX5-related disorder [RCV003403100] Chr12:23543222 [GRCh38]
Chr12:23696156 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.1957C>T (p.Arg653Trp) single nucleotide variant not provided [RCV003442355] Chr12:23536484 [GRCh38]
Chr12:23689418 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.1862del (p.Pro621fs) deletion Lamb-Shaffer syndrome [RCV003592387] Chr12:23536579 [GRCh38]
Chr12:23689513 [GRCh37]
Chr12:12p12.1		 pathogenic
NM_006940.6(SOX5):c.2283A>C (p.Gln761His) single nucleotide variant Lamb-Shaffer syndrome [RCV003493170] Chr12:23534228 [GRCh38]
Chr12:23687162 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.1415G>A (p.Arg472Gln) single nucleotide variant not provided [RCV003701735] Chr12:23563331 [GRCh38]
Chr12:23716265 [GRCh37]
Chr12:12p12.1		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3 copy number gain not specified [RCV003986979] Chr12:173786..34835641 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p12.1(chr12:24559681-24595192)x1 copy number loss not specified [RCV003986968] Chr12:24559681..24595192 [GRCh37]
Chr12:12p12.1		 uncertain significance
GRCh37/hg19 12p12.1(chr12:24433067-24947559)x3 copy number gain not specified [RCV003986994] Chr12:24433067..24947559 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.281G>T (p.Gly94Val) single nucleotide variant SOX5-related disorder [RCV003961862] Chr12:23846183 [GRCh38]
Chr12:23999117 [GRCh37]
Chr12:12p12.1		 likely benign
NM_006940.6(SOX5):c.1105G>A (p.Val369Ile) single nucleotide variant SOX5-related disorder [RCV003982760] Chr12:23604446 [GRCh38]
Chr12:23757380 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.1164+6C>T single nucleotide variant SOX5-related disorder [RCV003952115] Chr12:23604381 [GRCh38]
Chr12:23757315 [GRCh37]
Chr12:12p12.1		 likely benign
NM_006940.6(SOX5):c.1489-7T>G single nucleotide variant SOX5-related disorder [RCV003911681] Chr12:23546431 [GRCh38]
Chr12:23699365 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.938C>T (p.Pro313Leu) single nucleotide variant Lamb-Shaffer syndrome [RCV004547417] Chr12:23640891 [GRCh38]
Chr12:23793825 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.-2G>A single nucleotide variant SOX5-related disorder [RCV003976814] Chr12:23949603 [GRCh38]
Chr12:24102537 [GRCh37]
Chr12:12p12.1		 likely benign
NM_006940.6(SOX5):c.2127C>G (p.Ile709Met) single nucleotide variant Inborn genetic diseases [RCV004457642] Chr12:23534384 [GRCh38]
Chr12:23687318 [GRCh37]
Chr12:12p12.1		 likely benign
NM_006940.6(SOX5):c.2134A>G (p.Thr712Ala) single nucleotide variant Inborn genetic diseases [RCV004457643] Chr12:23534377 [GRCh38]
Chr12:23687311 [GRCh37]
Chr12:12p12.1		 likely benign
NM_006940.6(SOX5):c.970G>A (p.Ala324Thr) single nucleotide variant Inborn genetic diseases [RCV004457645] Chr12:23640859 [GRCh38]
Chr12:23793793 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.53G>A (p.Arg18Gln) single nucleotide variant not specified [RCV004586280] Chr12:23896010 [GRCh38]
Chr12:24048944 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.1848C>G (p.His616Gln) single nucleotide variant Inborn genetic diseases [RCV004457641] Chr12:23536593 [GRCh38]
Chr12:23689527 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.1238C>T (p.Thr413Ile) single nucleotide variant Inborn genetic diseases [RCV004457638] Chr12:23575765 [GRCh38]
Chr12:23728699 [GRCh37]
Chr12:12p12.1		 likely benign
NM_006940.6(SOX5):c.1340T>C (p.Ile447Thr) single nucleotide variant Inborn genetic diseases [RCV004457639] Chr12:23575663 [GRCh38]
Chr12:23728597 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.1457G>A (p.Ser486Asn) single nucleotide variant Inborn genetic diseases [RCV004457640] Chr12:23563289 [GRCh38]
Chr12:23716223 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.65C>T (p.Pro22Leu) single nucleotide variant Inborn genetic diseases [RCV004457644] Chr12:23895998 [GRCh38]
Chr12:24048932 [GRCh37]
Chr12:12p12.1		 likely benign
NM_006940.6(SOX5):c.979G>A (p.Ala327Thr) single nucleotide variant Inborn genetic diseases [RCV004457646] Chr12:23640850 [GRCh38]
Chr12:23793784 [GRCh37]
Chr12:12p12.1		 likely benign
NM_006940.6:c.741+1981_931+5178del deletion not provided [RCV004697966]   pathogenic
NM_006940.6(SOX5):c.692T>C (p.Ile231Thr) single nucleotide variant Lamb-Shaffer syndrome [RCV004666675] Chr12:23740916 [GRCh38]
Chr12:23893850 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.322A>G (p.Thr108Ala) single nucleotide variant Inborn genetic diseases [RCV004679231] Chr12:23846142 [GRCh38]
Chr12:23999076 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.118G>C (p.Glu40Gln) single nucleotide variant Inborn genetic diseases [RCV004679232] Chr12:23895945 [GRCh38]
Chr12:24048879 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.1444G>C (p.Ala482Pro) single nucleotide variant not provided [RCV004698119] Chr12:23563302 [GRCh38]
Chr12:23716236 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.135C>A (p.Asp45Glu) single nucleotide variant Inborn genetic diseases [RCV004670661] Chr12:23895928 [GRCh38]
Chr12:24048862 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.230C>A (p.Thr77Asn) single nucleotide variant Inborn genetic diseases [RCV004670660] Chr12:23895833 [GRCh38]
Chr12:24048767 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.1397T>C (p.Met466Thr) single nucleotide variant Inborn genetic diseases [RCV004670663] Chr12:23563349 [GRCh38]
Chr12:23716283 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.1584T>A (p.Ser528Arg) single nucleotide variant Inborn genetic diseases [RCV004670662] Chr12:23546329 [GRCh38]
Chr12:23699263 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.2150G>T (p.Gly717Val) single nucleotide variant not provided [RCV004770488] Chr12:23534361 [GRCh38]
Chr12:23687295 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.1417G>C (p.Glu473Gln) single nucleotide variant SOX5-related disorder [RCV004753782] Chr12:23563329 [GRCh38]
Chr12:23716263 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.1035G>C (p.Gln345His) single nucleotide variant not provided [RCV004760069]   uncertain significance
NM_006940.6(SOX5):c.21A>C (p.Leu7Phe) single nucleotide variant not provided [RCV004725905] Chr12:23949581 [GRCh38]
Chr12:24102515 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.1388C>T (p.Ala463Val) single nucleotide variant not provided [RCV004763143]   uncertain significance
NM_006940.6(SOX5):c.2011_2014dup (p.Thr672fs) duplication not specified [RCV004766814] Chr12:23534496..23534497 [GRCh38]
Chr12:23687430..23687431 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.2214G>C (p.Glu738Asp) single nucleotide variant not provided [RCV004759834]   uncertain significance
NM_006940.6(SOX5):c.953T>C (p.Leu318Pro) single nucleotide variant not provided [RCV004763928]   uncertain significance
NM_006940.6(SOX5):c.1993C>G (p.Gln665Glu) single nucleotide variant not provided [RCV004772781] Chr12:23534518 [GRCh38]
Chr12:23687452 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.2144T>G (p.Val715Gly) single nucleotide variant SOX5-related disorder [RCV004753989] Chr12:23534367 [GRCh38]
Chr12:23687301 [GRCh37]
Chr12:12p12.1		 uncertain significance
GRCh37/hg19 12p12.1(chr12:24560996-24596197)x1 copy number loss not provided [RCV004577436] Chr12:24560996..24596197 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_152989.5(SOX5):c.-99+1del deletion not provided [RCV001573728]|not specified [RCV001727894] Chr12:24368562 [GRCh38]
Chr12:24521496 [GRCh37]
Chr12:12p12.1		 benign|likely benign
GRCh37/hg19 12p12.1(chr12:23638257-23830884)x3 copy number gain See cases [RCV000512023] Chr12:23638257..23830884 [GRCh37]
Chr12:12p12.1		 uncertain significance
GRCh37/hg19 12p12.1(chr12:24692382-25353945)x3 copy number gain not provided [RCV000849877] Chr12:24692382..25353945 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.429T>C (p.Val143=) single nucleotide variant not provided [RCV000979310] Chr12:23846035 [GRCh38]
Chr12:23998969 [GRCh37]
Chr12:12p12.1		 likely benign
GRCh37/hg19 12p12.1(chr12:23805799-23882640)x1 copy number loss not provided [RCV000848445] Chr12:23805799..23882640 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.405dup (p.Lys136fs) duplication Lamb-Shaffer syndrome [RCV001250420] Chr12:23846058..23846059 [GRCh38]
Chr12:23998992..23998993 [GRCh37]
Chr12:12p12.1		 pathogenic
NM_006940.6(SOX5):c.224_225del (p.Gln75fs) deletion Lamb-Shaffer syndrome [RCV002280374] Chr12:23895838..23895839 [GRCh38]
Chr12:24048772..24048773 [GRCh37]
Chr12:12p12.1		 likely pathogenic
NM_006940.6(SOX5):c.477G>C (p.Pro159=) single nucleotide variant not provided [RCV004598655] Chr12:23845987 [GRCh38]
Chr12:23998921 [GRCh37]
Chr12:12p12.1		 likely benign
GRCh37/hg19 12p12.1(chr12:23961188-24011932)x1 copy number loss not provided [RCV001833004] Chr12:23961188..24011932 [GRCh37]
Chr12:12p12.1		 likely pathogenic
NM_006940.6(SOX5):c.1975T>A (p.Tyr659Asn) single nucleotide variant not provided [RCV001794775] Chr12:23536466 [GRCh38]
Chr12:23689400 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.3G>A (p.Met1Ile) single nucleotide variant not provided [RCV003154116] Chr12:23949599 [GRCh38]
Chr12:24102533 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.1867T>C (p.Tyr623His) single nucleotide variant Lamb-Shaffer syndrome [RCV003132610] Chr12:23536574 [GRCh38]
Chr12:23689508 [GRCh37]
Chr12:12p12.1		 likely pathogenic
NM_006940.6(SOX5):c.359del (p.Ser120fs) deletion not provided [RCV003149457] Chr12:23846105 [GRCh38]
Chr12:23999039 [GRCh37]
Chr12:12p12.1		 pathogenic
NM_006940.6(SOX5):c.874G>T (p.Ala292Ser) single nucleotide variant not provided [RCV003222758] Chr12:23665501 [GRCh38]
Chr12:23818435 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_006940.6(SOX5):c.1797C>G (p.Asn599Lys) single nucleotide variant not provided [RCV003321431] Chr12:23536644 [GRCh38]
Chr12:23689578 [GRCh37]
Chr12:12p12.1		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR21hsa-miR-21-5pMirtarbaseexternal_infoWestern blot//Northern blot//qRT-PCR//Luciferase rFunctional MTI19013014
MIR194-2hsa-miR-194-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI22396742

Predicted Target Of
Summary Value
Count of predictions:6273
Count of miRNA genes:1220
Interacting mature miRNAs:1552
Transcripts:ENST00000309359, ENST00000367206, ENST00000381381, ENST00000396007, ENST00000441133, ENST00000451604, ENST00000535530, ENST00000536629, ENST00000536850, ENST00000536911, ENST00000537393, ENST00000538083, ENST00000541536, ENST00000541847, ENST00000542241, ENST00000545921, ENST00000546136
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407260742GWAS909718_Hmultisite chronic pain QTL GWAS909718 (human)5e-08multisite chronic pain122382197723821978Human
407338567GWAS987543_Hmean corpuscular hemoglobin QTL GWAS987543 (human)3e-10mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)122405774124057742Human
407258179GWAS907155_Heye color QTL GWAS907155 (human)5e-27eye color122382685723826858Human
407263296GWAS912272_Hbrain measurement QTL GWAS912272 (human)9e-18brain measurementbrain measurement (CMO:0000911)122408106724081068Human
407016526GWAS665502_Hunipolar depression QTL GWAS665502 (human)3e-08unipolar depression122379480323794804Human
407328840GWAS977816_Hbody weight QTL GWAS977816 (human)1e-11body mass (VT:0001259)body weight (CMO:0000012)122391881423918815Human
407118932GWAS767908_Hsexual dimorphism measurement QTL GWAS767908 (human)5e-08sexual dimorphism measurement122392441423924415Human
407021651GWAS670627_Htestosterone measurement QTL GWAS670627 (human)4e-10testosterone measurementserum testosterone level (CMO:0000568)122400373024003731Human
407181908GWAS830884_Hcreatinine measurement QTL GWAS830884 (human)2e-09creatinine measurementblood creatinine measurement (CMO:0000767)122372755523727556Human
407236694GWAS885670_HC-reactive protein measurement QTL GWAS885670 (human)4e-22C-reactive protein measurementblood C-reactive protein level (CMO:0003160)122404210824042109Human
406893143GWAS542119_Hbody mass index QTL GWAS542119 (human)2e-08body mass indexbody mass index (BMI) (CMO:0000105)122392257423922575Human
407190108GWAS839084_Hglomerular filtration rate QTL GWAS839084 (human)4e-10glomerular filtration rateglomerular filtration rate (CMO:0000490)122372243823722439Human
407018078GWAS667054_Hsex hormone-binding globulin measurement QTL GWAS667054 (human)2e-10sex hormone-binding globulin measurement122399750723997508Human
406990431GWAS639407_Hdepressive symptom measurement QTL GWAS639407 (human)2e-09depressive symptom measurement122392493223924933Human
406981725GWAS630701_Hhemoglobin measurement QTL GWAS630701 (human)2e-11hemoglobin measurementhemoglobin measurement (CMO:0000508)122400389524003896Human
407233125GWAS882101_Hattention deficit hyperactivity disorder, substance abuse, antisocial behaviour measurement QTL GWAS882101 (human)1e-12attention deficit hyperactivity disorder, substance abuse, antisocial behaviour measurement122401577724015778Human
407057504GWAS706480_Hheel bone mineral density QTL GWAS706480 (human)1e-10heel bone mineral densitybone mineral density (CMO:0001226)122404530024045301Human
407338083GWAS987059_Hhemoglobin measurement QTL GWAS987059 (human)4e-09hemoglobin measurementhemoglobin measurement (CMO:0000508)122406566224065663Human
406989928GWAS638904_Hwellbeing measurement QTL GWAS638904 (human)1e-09wellbeing measurement122392493223924933Human
407127656GWAS776632_Hneuroticism measurement, cognitive function measurement QTL GWAS776632 (human)4e-11neuroticism measurement, cognitive function measurement122354748723547488Human
406964335GWAS613311_Hsevere acute respiratory syndrome, COVID-19 QTL GWAS613311 (human)0.000003severe acute respiratory syndrome, COVID-19122383109823831099Human
407397990GWAS1046966_Hpulse pressure measurement QTL GWAS1046966 (human)0.000004pulse pressure measurementpulse pressure (CMO:0000292)122405766524057666Human
407235189GWAS884165_Hbone density QTL GWAS884165 (human)2e-18bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)122377027423770275Human
407296629GWAS945605_Hcortical thickness QTL GWAS945605 (human)4e-18cortical thickness122408278124082782Human
407210097GWAS859073_HIschemic stroke QTL GWAS859073 (human)0.000003Ischemic stroke122398545623985457Human
407138428GWAS787404_Hschizophrenia QTL GWAS787404 (human)0.000001schizophrenia122395466323954664Human
407244415GWAS893391_Hretinal vasculature measurement QTL GWAS893391 (human)0.00001retina blood vessel morphology trait (VT:0002792)122380950523809506Human
407162488GWAS811464_HOsteochondritis dissecans QTL GWAS811464 (human)0.000003Osteochondritis dissecans122423672624236727Human
406989436GWAS638412_Hsex hormone-binding globulin measurement QTL GWAS638412 (human)2e-12sex hormone-binding globulin measurement122399750723997508Human
407037052GWAS686028_Hself reported educational attainment QTL GWAS686028 (human)2e-08self reported educational attainment122354479123544792Human
407095933GWAS744909_Hrisk-taking behaviour QTL GWAS744909 (human)2e-08risk-taking behaviour122455749024557491Human
407037053GWAS686029_Hself reported educational attainment QTL GWAS686029 (human)4e-08self reported educational attainment122404211424042115Human
407171588GWAS820564_HFEV/FVC ratio QTL GWAS820564 (human)2e-09FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)122428499424284995Human
407233541GWAS882517_Hattention deficit hyperactivity disorder QTL GWAS882517 (human)0.000002attention deficit hyperactivity disorder122404589724045904Human
406978053GWAS627029_Hdepressive symptom measurement QTL GWAS627029 (human)4e-08unipolar depression122412665124126652Human
406993926GWAS642902_Hbody height QTL GWAS642902 (human)8e-09body height (VT:0001253)body height (CMO:0000106)122383309523833096Human
406948870GWAS597846_Hbody mass index QTL GWAS597846 (human)0.000006body mass indexbody mass index (BMI) (CMO:0000105)122392257423922575Human
407394831GWAS1043807_Hbody mass index QTL GWAS1043807 (human)3e-11body mass indexbody mass index (BMI) (CMO:0000105)122390520123905202Human
407175693GWAS824669_Hcortical surface area measurement QTL GWAS824669 (human)6e-14cerebral cortex morphology trait (VT:0000788)tibia-fibula cortical bone total cross-sectional area (CMO:0001721)122455240424552405Human
407011848GWAS660824_Hmean corpuscular hemoglobin QTL GWAS660824 (human)4e-13mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)122404524424045245Human
407130120GWAS779096_HBack pain QTL GWAS779096 (human)5e-35Back pain122382228523822286Human
407179787GWAS828763_HFEV/FVC ratio QTL GWAS828763 (human)2e-17FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)122428565724285658Human
407048723GWAS697699_Hresponse to statin QTL GWAS697699 (human)0.000002response to statin122412588724125888Human
406941714GWAS590690_HQRS-T angle QTL GWAS590690 (human)5e-13heart excitatory physiology trait (VT:0000231)122443747124437472Human
406944793GWAS593769_Hhematocrit QTL GWAS593769 (human)6e-10hematocrithematocrit (CMO:0000037)122400389524003896Human
406987291GWAS636267_HBack pain QTL GWAS636267 (human)5e-19Back pain122382228523822286Human
406917150GWAS566126_Hhoarding disorder QTL GWAS566126 (human)0.0000001hoarding disorder122362303323623034Human
407362595GWAS1011571_Hneuroticism measurement QTL GWAS1011571 (human)0.0000008neuroticism measurement122390079823900799Human
407362594GWAS1011570_Hneuroticism measurement QTL GWAS1011570 (human)0.0000004neuroticism measurement122362612723626128Human
407041579GWAS690555_Hdocosahexaenoic acid measurement QTL GWAS690555 (human)0.000002fatty acid amount (VT:0010046)blood free fatty acids level (CMO:0000117)122436076724360768Human
407109167GWAS758143_Hbody height QTL GWAS758143 (human)2e-40body height (VT:0001253)body height (CMO:0000106)122384429723844298Human
407114793GWAS763769_Hbody mass index QTL GWAS763769 (human)2e-13body mass indexbody mass index (BMI) (CMO:0000105)122384919123849192Human
407109166GWAS758142_Hbody height QTL GWAS758142 (human)6e-09body height (VT:0001253)body height (CMO:0000106)122359171623591717Human
407180840GWAS829816_HC-reactive protein measurement QTL GWAS829816 (human)6e-10C-reactive protein measurementblood C-reactive protein level (CMO:0003160)122407055824070559Human
407200808GWAS849784_Hosteoarthritis, hip, osteoarthritis, knee QTL GWAS849784 (human)5e-10osteoarthritis, hip, osteoarthritis, knee122380665523806656Human
407201333GWAS850309_Happendicular lean mass QTL GWAS850309 (human)4e-10appendicular lean mass122404265324042654Human
407109168GWAS758144_Hbody height QTL GWAS758144 (human)4e-08body height (VT:0001253)body height (CMO:0000106)122401349224013493Human
407008313GWAS657289_Hchronotype measurement QTL GWAS657289 (human)7e-11chronotype measurement122393638823936389Human
407096894GWAS745870_Hbody mass index QTL GWAS745870 (human)4e-13body mass indexbody mass index (BMI) (CMO:0000105)122390714123907142Human
407096893GWAS745869_Hbody mass index QTL GWAS745869 (human)2e-08body mass indexbody mass index (BMI) (CMO:0000105)122360099323600994Human
407107779GWAS756755_Helectrocardiography QTL GWAS756755 (human)6e-34electrocardiography122444225824442259Human
406889665GWAS538641_Hbody height QTL GWAS538641 (human)0.0000006body height (VT:0001253)body height (CMO:0000106)122399165623991657Human
407107778GWAS756754_Helectrocardiography QTL GWAS756754 (human)5e-31electrocardiography122444225824442259Human
406984384GWAS633360_Hcortical surface area measurement, neuroimaging measurement QTL GWAS633360 (human)2e-12cerebral cortex morphology trait (VT:0000788)tibia-fibula cortical bone total cross-sectional area (CMO:0001721)122405832524058326Human
407107777GWAS756753_Helectrocardiography QTL GWAS756753 (human)6e-27electrocardiography122444225824442259Human
407107776GWAS756752_Helectrocardiography QTL GWAS756752 (human)4e-28electrocardiography122444225824442259Human
407107783GWAS756759_Helectrocardiography QTL GWAS756759 (human)6e-32electrocardiography122444225824442259Human
407107782GWAS756758_Helectrocardiography QTL GWAS756758 (human)1e-34electrocardiography122444225824442259Human
406893766GWAS542742_Hpain QTL GWAS542742 (human)0.000003pain122382962523829626Human
407107781GWAS756757_Helectrocardiography QTL GWAS756757 (human)4e-31electrocardiography122444225824442259Human
407107780GWAS756756_Helectrocardiography QTL GWAS756756 (human)3e-31electrocardiography122444225824442259Human
407107785GWAS756761_Helectrocardiography QTL GWAS756761 (human)9e-35electrocardiography122444225824442259Human
407077064GWAS726040_Hfacial asymmetry measurement QTL GWAS726040 (human)1e-12facial asymmetry measurement122358861223588613Human
407103176GWAS752152_Helectrocardiography QTL GWAS752152 (human)1e-13electrocardiography122443345624433457Human
407107784GWAS756760_Helectrocardiography QTL GWAS756760 (human)2e-35electrocardiography122444225824442259Human
407172296GWAS821272_Hcortical thickness QTL GWAS821272 (human)1e-17cerebral cortex morphology trait (VT:0000788)tibia-fibula cortical bone total cross-sectional area (CMO:0001721)122408278124082782Human
407160535GWAS809511_Hfollicle stimulating hormone measurement QTL GWAS809511 (human)0.0000003follicle stimulating hormone measurement122385710423857105Human
406995668GWAS644644_Hmean corpuscular volume QTL GWAS644644 (human)7e-17mean corpuscular volumemean corpuscular volume (CMO:0000038)122404524424045245Human
406992084GWAS641060_Hcomparative body size at age 10, self-reported QTL GWAS641060 (human)4e-09comparative body size at age 10, self-reported122446841424468415Human
407063261GWAS712237_Hvitamin D measurement QTL GWAS712237 (human)2e-09vitamin D measurement122442392524423926Human
407102690GWAS751666_Hage at menarche QTL GWAS751666 (human)1e-11age at menarche122444811424448115Human
407338725GWAS987701_Hbilirubin measurement QTL GWAS987701 (human)8e-15bilirubin measurementserum total bilirubin level (CMO:0000376)122410795024107951Human
407057639GWAS706615_Hsystemic scleroderma QTL GWAS706615 (human)0.000005systemic scleroderma122379321223793213Human
407057643GWAS706619_Hsystemic scleroderma QTL GWAS706619 (human)0.0000001systemic scleroderma122379321223793213Human
407198444GWAS847420_Hhearing threshold measurement, hearing measurement QTL GWAS847420 (human)0.00001hearing threshold measurement, hearing measurementhearing physiological measurement (CMO:0002204)122377068623770687Human
407291119GWAS940095_HC-reactive protein measurement QTL GWAS940095 (human)8e-18C-reactive protein measurementblood C-reactive protein level (CMO:0003160)122404286424042865Human
407242988GWAS891964_Hsex hormone-binding globulin measurement QTL GWAS891964 (human)0.000002sex hormone-binding globulin measurement122405339224053393Human
407326956GWAS975932_Hcortical surface area measurement QTL GWAS975932 (human)8e-13cerebral cortex morphology trait (VT:0000788)tibia-fibula cortical bone total cross-sectional area (CMO:0001721)122455749024557491Human
406925549GWAS574525_Hbody height QTL GWAS574525 (human)4e-25body height (VT:0001253)body height (CMO:0000106)122380907723809078Human
406925550GWAS574526_Hbody height QTL GWAS574526 (human)0.0000001body height (VT:0001253)body height (CMO:0000106)122395449923954500Human
407010033GWAS659009_Hlifestyle measurement QTL GWAS659009 (human)4e-09lifestyle measurement122392207323922074Human
407135474GWAS784450_Hoppositional defiant disorder measurement QTL GWAS784450 (human)0.000007oppositional defiant disorder measurement122392457523924576Human
406925558GWAS574534_Hbody height QTL GWAS574534 (human)9e-12body height (VT:0001253)body height (CMO:0000106)122401797024017971Human
407112440GWAS761416_Hmean corpuscular hemoglobin QTL GWAS761416 (human)2e-11mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)122402765224027653Human
406925052GWAS574028_Hbody mass index QTL GWAS574028 (human)2e-13body mass indexbody mass index (BMI) (CMO:0000105)122390714123907142Human
407064829GWAS713805_Hprotein measurement QTL GWAS713805 (human)2e-08protein measurement122403078524030786Human
407244416GWAS893392_Hretinal vasculature measurement QTL GWAS893392 (human)0.000008retina blood vessel morphology trait (VT:0002792)122418676624186767Human
407316608GWAS965584_Hsleep measurement QTL GWAS965584 (human)3e-08sleep measurement122391222823912229Human
407331968GWAS980944_Hglucose measurement QTL GWAS980944 (human)3e-08glucose measurementblood glucose level (CMO:0000046)122390779823907799Human
407321741GWAS970717_Hneuroimaging measurement QTL GWAS970717 (human)6e-17neuroimaging measurement122406417524064176Human
406997645GWAS646621_Hbiological sex QTL GWAS646621 (human)4e-08biological sex122408054524080546Human
407324822GWAS973798_Hbody height QTL GWAS973798 (human)2e-21body height (VT:0001253)body height (CMO:0000106)122385047323850474Human
406970519GWAS619495_HLDL peak particle diameter measurement, total fat intake measurement QTL GWAS619495 (human)0.000008LDL peak particle diameter measurement, total fat intake measurementblood low density lipoprotein particle diameter (CMO:0002693)122385347223853473Human
407104671GWAS753647_Helectrocardiography QTL GWAS753647 (human)1e-48electrocardiography122444225824442259Human
407361691GWAS1010667_Hcreatinine measurement QTL GWAS1010667 (human)8e-13creatinine measurementblood creatinine measurement (CMO:0000767)122372755523727556Human
407104675GWAS753651_Helectrocardiography QTL GWAS753651 (human)2e-53electrocardiography122444225824442259Human
407310503GWAS959479_HC-reactive protein measurement QTL GWAS959479 (human)6e-11C-reactive protein measurementblood C-reactive protein level (CMO:0003160)122413806324138064Human
407104674GWAS753650_Helectrocardiography QTL GWAS753650 (human)1e-52electrocardiography122444225824442259Human
407310502GWAS959478_HC-reactive protein measurement QTL GWAS959478 (human)2e-14C-reactive protein measurementblood C-reactive protein level (CMO:0003160)122403035024030351Human
407104673GWAS753649_Helectrocardiography QTL GWAS753649 (human)3e-49electrocardiography122444225824442259Human
407174822GWAS823798_Hcolor vision disorder QTL GWAS823798 (human)0.000009color vision disorder122408394124083942Human
407310501GWAS959477_HC-reactive protein measurement QTL GWAS959477 (human)1e-15C-reactive protein measurementblood C-reactive protein level (CMO:0003160)122386815523868156Human
407104672GWAS753648_Helectrocardiography QTL GWAS753648 (human)9e-50electrocardiography122444225824442259Human
407127712GWAS776688_HAIDS QTL GWAS776688 (human)0.000002AIDS122424143824241439Human
407102630GWAS751606_Hmathematical ability QTL GWAS751606 (human)1e-08mathematical ability122422089424220895Human
407104677GWAS753653_Helectrocardiography QTL GWAS753653 (human)6e-53electrocardiography122444225824442259Human
407104676GWAS753652_Helectrocardiography QTL GWAS753652 (human)6e-54electrocardiography122444225824442259Human
407299245GWAS948221_Hspondylosis QTL GWAS948221 (human)0.000003spondylosis122413550724135508Human
406978225GWAS627201_Hdepressive symptom measurement QTL GWAS627201 (human)8e-09depressive symptom measurement122401932624019327Human
406999729GWAS648705_Hsex hormone-binding globulin measurement QTL GWAS648705 (human)4e-11sex hormone-binding globulin measurement122404524424045245Human
407031985GWAS680961_Hfree androgen index QTL GWAS680961 (human)3e-09free androgen index122410306024103061Human
407013558GWAS662534_Hresponse to perphenazine QTL GWAS662534 (human)0.0000001response to perphenazine122423672624236727Human
407099061GWAS748037_Hunipolar depression QTL GWAS748037 (human)4e-10unipolar depression122380724323807244Human
406932662GWAS581638_Hbody height QTL GWAS581638 (human)4e-10body height (VT:0001253)body height (CMO:0000106)122384190723841908Human
407322800GWAS971776_Hsex hormone-binding globulin measurement QTL GWAS971776 (human)2e-13sex hormone-binding globulin measurement122410795024107951Human
407391935GWAS1040911_Hcarotid artery intima media thickness QTL GWAS1040911 (human)0.000004carotid artery intima media thickness122424326324243264Human
406937274GWAS586250_Hbody height QTL GWAS586250 (human)4e-15body height (VT:0001253)body height (CMO:0000106)122384190723841908Human
407107775GWAS756751_Helectrocardiography QTL GWAS756751 (human)4e-30electrocardiography122444225824442259Human
407335611GWAS984587_Hmean corpuscular volume QTL GWAS984587 (human)1e-10mean corpuscular volumemean corpuscular volume (CMO:0000038)122405774124057742Human
407107774GWAS756750_Helectrocardiography QTL GWAS756750 (human)1e-29electrocardiography122444225824442259Human
407107773GWAS756749_Helectrocardiography QTL GWAS756749 (human)4e-27electrocardiography122444225824442259Human
407128250GWAS777226_HBack pain QTL GWAS777226 (human)3e-08Back pain122382228523822286Human
407292742GWAS941718_Hbrain measurement QTL GWAS941718 (human)1e-08brain measurementbrain measurement (CMO:0000911)122454893224548933Human
407100226GWAS749202_Hchronotype measurement QTL GWAS749202 (human)5e-13chronotype measurement122391400323914004Human
407240007GWAS888983_Hbone density QTL GWAS888983 (human)1e-19bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)122407958224079583Human
406933314GWAS582290_Hheel bone mineral density QTL GWAS582290 (human)2e-12heel bone mineral densitybone mineral density (CMO:0001226)122404530024045301Human
407228749GWAS877725_Hbody height QTL GWAS877725 (human)3e-24body height (VT:0001253)body height (CMO:0000106)122361670023616701Human
407031624GWAS680600_Hmean corpuscular volume QTL GWAS680600 (human)8e-13mean corpuscular volumemean corpuscular volume (CMO:0000038)122404524424045245Human
407316810GWAS965786_Hsex hormone-binding globulin measurement QTL GWAS965786 (human)4e-09sex hormone-binding globulin measurement122403749424037495Human
407389509GWAS1038485_Hserum gamma-glutamyl transferase measurement QTL GWAS1038485 (human)2e-10serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)122390520123905202Human
407228757GWAS877733_Hbody height QTL GWAS877733 (human)2e-129body height (VT:0001253)body height (CMO:0000106)122403943724039438Human
407124309GWAS773285_Hglucose measurement QTL GWAS773285 (human)4e-09glucose measurementblood glucose level (CMO:0000046)122390779823907799Human
407228756GWAS877732_Hbody height QTL GWAS877732 (human)7e-57body height (VT:0001253)body height (CMO:0000106)122395064623950647Human
407228759GWAS877735_Hbody height QTL GWAS877735 (human)5e-14body height (VT:0001253)body height (CMO:0000106)122444069024440691Human
406960978GWAS609954_Hafamin measurement QTL GWAS609954 (human)5e-13afamin measurement122404003624040038Human
407228758GWAS877734_Hbody height QTL GWAS877734 (human)4e-26body height (VT:0001253)body height (CMO:0000106)122426200224262003Human
407228753GWAS877729_Hbody height QTL GWAS877729 (human)5e-116body height (VT:0001253)body height (CMO:0000106)122381052123810522Human
407272786GWAS921762_Hcolorectal mucinous adenocarcinoma QTL GWAS921762 (human)0.000006colorectal mucinous adenocarcinoma122368327823683279Human
407063382GWAS712358_Hobsessive-compulsive disorder, attention deficit hyperactivity disorder, Tourette syndrome, unipolar depression, bipolar disorder, autism spectrum disorder, schizophrenia, anorexia nervosa QTL GWAS712358 (human)5e-08obsessive-compulsive disorder, attention deficit hyperactivity disorder, Tourette syndrome, unipolar depression, bipolar disorder, autism spectrum disorder, schizophrenia, anorexia nervosa122380724323807244Human
407267155GWAS916131_Hsex hormone-binding globulin measurement QTL GWAS916131 (human)7e-15sex hormone-binding globulin measurement122405339224053393Human
407228755GWAS877731_Hbody height QTL GWAS877731 (human)9e-182body height (VT:0001253)body height (CMO:0000106)122394012823940129Human
407228754GWAS877730_Hbody height QTL GWAS877730 (human)3e-13body height (VT:0001253)body height (CMO:0000106)122382767623827677Human
407117661GWAS766637_Hsexual dimorphism measurement QTL GWAS766637 (human)6e-09sexual dimorphism measurement122392586423925865Human
407108959GWAS757935_Helectrocardiography QTL GWAS757935 (human)6e-51electrocardiography122444225824442259Human
407108958GWAS757934_Helectrocardiography QTL GWAS757934 (human)1e-51electrocardiography122444225824442259Human
407030620GWAS679596_Halcohol consumption measurement QTL GWAS679596 (human)6e-11alcohol consumption measurementethanol drink intake rate (CMO:0001407)122385216723852168Human
407061341GWAS710317_Hobsessive-compulsive disorder, attention deficit hyperactivity disorder, Tourette syndrome, unipolar depression, bipolar disorder, autism spectrum disorder, schizophrenia, anorexia nervosa QTL GWAS710317 (human)5e-08obsessive-compulsive disorder, attention deficit hyperactivity disorder, Tourette syndrome, unipolar depression, bipolar disorder, autism spectrum disorder, schizophrenia, anorexia nervosa122383499123834992Human
407343961GWAS992937_Hbrain measurement QTL GWAS992937 (human)0.000003brain measurementbrain measurement (CMO:0000911)122408106724081068Human
407335769GWAS984745_Hbilirubin measurement QTL GWAS984745 (human)2e-15bilirubin measurementserum total bilirubin level (CMO:0000376)122404563324045634Human
406938974GWAS587950_Hhemoglobin measurement QTL GWAS587950 (human)2e-12hemoglobin measurementhemoglobin measurement (CMO:0000508)122400389524003896Human
407099228GWAS748204_Hunipolar depression QTL GWAS748204 (human)2e-09unipolar depression122401686324016864Human
407084899GWAS733875_Hinflammatory bowel disease QTL GWAS733875 (human)0.000003inflammatory bowel disease122413643224136433Human
407108963GWAS757939_Helectrocardiography QTL GWAS757939 (human)2e-43electrocardiography122444225824442259Human
407108962GWAS757938_Helectrocardiography QTL GWAS757938 (human)7e-45electrocardiography122444225824442259Human
407108961GWAS757937_Helectrocardiography QTL GWAS757937 (human)1e-46electrocardiography122444225824442259Human
407108960GWAS757936_Helectrocardiography QTL GWAS757936 (human)4e-51electrocardiography122444225824442259Human
407027047GWAS676023_Hsex hormone-binding globulin measurement QTL GWAS676023 (human)3e-12sex hormone-binding globulin measurement122403714624037147Human
407108964GWAS757940_Helectrocardiography QTL GWAS757940 (human)3e-09electrocardiography122444225824442259Human
407308128GWAS957104_HC-reactive protein measurement QTL GWAS957104 (human)1e-17C-reactive protein measurementblood C-reactive protein level (CMO:0003160)122403714624037147Human
407107435GWAS756411_Helectrocardiography QTL GWAS756411 (human)5e-08electrocardiography122444225824442259Human
407107434GWAS756410_Helectrocardiography QTL GWAS756410 (human)4e-09electrocardiography122444225824442259Human
407107433GWAS756409_Helectrocardiography QTL GWAS756409 (human)2e-09electrocardiography122444225824442259Human
407216495GWAS865471_Hbrain measurement QTL GWAS865471 (human)8e-60brain measurementbrain measurement (CMO:0000911)122408106724081068Human
407107432GWAS756408_Helectrocardiography QTL GWAS756408 (human)2e-54electrocardiography122444225824442259Human
406936941GWAS585917_Hneuroticism measurement QTL GWAS585917 (human)8e-09neuroticism measurement122362612723626128Human
407107439GWAS756415_Helectrocardiography QTL GWAS756415 (human)7e-12electrocardiography122444225824442259Human
407107438GWAS756414_Helectrocardiography QTL GWAS756414 (human)5e-11electrocardiography122444225824442259Human
407182184GWAS831160_HC-reactive protein measurement QTL GWAS831160 (human)9e-15C-reactive protein measurementblood C-reactive protein level (CMO:0003160)122410795024107951Human
407107437GWAS756413_Helectrocardiography QTL GWAS756413 (human)2e-10electrocardiography122444225824442259Human
407279976GWAS928952_Hvaginal microbiome measurement QTL GWAS928952 (human)0.000004vaginal microbiome measurement122376682823766829Human
407107436GWAS756412_Helectrocardiography QTL GWAS756412 (human)3e-08electrocardiography122444225824442259Human
407415143GWAS1064119_Hdiastolic blood pressure QTL GWAS1064119 (human)0.000003diastolic blood pressurediastolic blood pressure (CMO:0000005)122405766524057666Human
407074163GWAS723139_Htotal blood protein measurement QTL GWAS723139 (human)4e-15total blood protein measurementblood protein measurement (CMO:0000028)122440643624406437Human
407107443GWAS756419_Helectrocardiography QTL GWAS756419 (human)3e-24electrocardiography122444225824442259Human
406993267GWAS642243_Hwellbeing measurement QTL GWAS642243 (human)4e-09wellbeing measurement122392493223924933Human
407107442GWAS756418_Helectrocardiography QTL GWAS756418 (human)4e-18electrocardiography122444225824442259Human
407107441GWAS756417_Helectrocardiography QTL GWAS756417 (human)6e-19electrocardiography122444225824442259Human
407107440GWAS756416_Helectrocardiography QTL GWAS756416 (human)2e-15electrocardiography122444225824442259Human
407058295GWAS707271_HC-reactive protein measurement QTL GWAS707271 (human)5e-20C-reactive protein measurementblood C-reactive protein level (CMO:0003160)122404524424045245Human
407107447GWAS756423_Helectrocardiography QTL GWAS756423 (human)4e-24electrocardiography122444225824442259Human
406971252GWAS620228_Hpain QTL GWAS620228 (human)4e-11pain122382962523829626Human
407058294GWAS707270_HC-reactive protein measurement QTL GWAS707270 (human)8e-15C-reactive protein measurementblood C-reactive protein level (CMO:0003160)122402737324027374Human
407107446GWAS756422_Helectrocardiography QTL GWAS756422 (human)6e-23electrocardiography122444225824442259Human
407058293GWAS707269_HC-reactive protein measurement QTL GWAS707269 (human)1e-10C-reactive protein measurementblood C-reactive protein level (CMO:0003160)122386815523868156Human
407107445GWAS756421_Helectrocardiography QTL GWAS756421 (human)2e-21electrocardiography122444225824442259Human
407107444GWAS756420_Helectrocardiography QTL GWAS756420 (human)4e-22electrocardiography122444225824442259Human
407010682GWAS659658_Hsex hormone-binding globulin measurement QTL GWAS659658 (human)4e-26sex hormone-binding globulin measurement122405016224050163Human
407107450GWAS756426_Helectrocardiography QTL GWAS756426 (human)1e-27electrocardiography122444225824442259Human
407107449GWAS756425_Helectrocardiography QTL GWAS756425 (human)1e-23electrocardiography122444225824442259Human
407107448GWAS756424_Helectrocardiography QTL GWAS756424 (human)1e-24electrocardiography122444225824442259Human
406947585GWAS596561_Hosteoarthritis, knee QTL GWAS596561 (human)1e-13osteoarthritis, knee122382228523822286Human
407322372GWAS971348_Hbilirubin measurement QTL GWAS971348 (human)1e-11bilirubin measurementserum total bilirubin level (CMO:0000376)122407055824070559Human
407269123GWAS918099_Hretinal vasculature measurement QTL GWAS918099 (human)0.000007retina blood vessel morphology trait (VT:0002792)122417121724171218Human
407367426GWAS1016402_Hmajor depressive disorder QTL GWAS1016402 (human)1e-09major depressive disorder122386440923864410Human
406932230GWAS581206_Hsmoking initiation QTL GWAS581206 (human)6e-17smoking initiation122408724524087246Human
406984965GWAS633941_Hbrain measurement, neuroimaging measurement QTL GWAS633941 (human)2e-16brain measurement, neuroimaging measurementbrain measurement (CMO:0000911)122406417524064176Human
406932233GWAS581209_Hsmoking initiation QTL GWAS581209 (human)4e-26smoking initiation122454964324549644Human
407215885GWAS864861_HIschemic stroke, coronary artery disease QTL GWAS864861 (human)0.000004Ischemic stroke, coronary artery disease122356813523568136Human
406932232GWAS581208_Hsmoking initiation QTL GWAS581208 (human)3e-11smoking initiation122432490024324901Human
407023883GWAS672859_Hbody mass index QTL GWAS672859 (human)2e-10body mass indexbody mass index (BMI) (CMO:0000105)122395631123956312Human
406932235GWAS581211_Hsmoking initiation QTL GWAS581211 (human)2e-26smoking initiation122454990224549903Human
407023881GWAS672857_Hbody mass index QTL GWAS672857 (human)1e-17body mass indexbody mass index (BMI) (CMO:0000105)122390714123907142Human
406932237GWAS581213_Hsmoking initiation QTL GWAS581213 (human)3e-27smoking initiation122455340424553405Human
406993166GWAS642142_Hsex hormone-binding globulin measurement QTL GWAS642142 (human)3e-14sex hormone-binding globulin measurement122405339224053393Human
406932238GWAS581214_Hsmoking initiation QTL GWAS581214 (human)1e-26smoking initiation122455946224559463Human
406991123GWAS640099_Hsex hormone-binding globulin measurement QTL GWAS640099 (human)8e-17sex hormone-binding globulin measurement122405339224053393Human
406904082GWAS553058_Hunipolar depression QTL GWAS553058 (human)4e-08unipolar depression122383499123834992Human
407346453GWAS995429_Hcortical thickness QTL GWAS995429 (human)4e-08cortical thickness122455749024557491Human
407293202GWAS942178_Hcortical surface area measurement QTL GWAS942178 (human)2e-29cerebral cortex morphology trait (VT:0000788)tibia-fibula cortical bone total cross-sectional area (CMO:0001721)122408106724081068Human
407325459GWAS974435_Hinsomnia QTL GWAS974435 (human)2e-08insomnia122443455724434558Human
407192850GWAS841826_Heducational attainment QTL GWAS841826 (human)6e-09educational attainment122354479123544792Human
407034650GWAS683626_Hheel bone mineral density QTL GWAS683626 (human)3e-10heel bone mineral densitybone mineral density (CMO:0001226)122404530024045301Human
407095579GWAS744555_HT wave morphology measurement QTL GWAS744555 (human)5e-19T wave morphology measurementT wave amplitude (CMO:0000277)122442392524423926Human
407267101GWAS916077_Hsex hormone-binding globulin measurement QTL GWAS916077 (human)2e-16sex hormone-binding globulin measurement122405339224053393Human
406934814GWAS583790_Hsmoking initiation QTL GWAS583790 (human)5e-10smoking initiation122354545323545454Human
406967586GWAS616562_HQRS-T angle QTL GWAS616562 (human)6e-14heart excitatory physiology trait (VT:0000231)122444888424448885Human
407026465GWAS675441_Hazoospermia QTL GWAS675441 (human)2e-09azoospermia122403161024031611Human
407362340GWAS1011316_Hsystolic blood pressure QTL GWAS1011316 (human)3e-09systolic blood pressuresystolic blood pressure (CMO:0000004)122405766524057666Human
407103782GWAS752758_Hpeak expiratory flow QTL GWAS752758 (human)3e-08peak expiratory flowmaximum mid-expiratory flow (MMEF) (CMO:0000253)122393557223935573Human
407248160GWAS897136_Hstroke, major depressive disorder QTL GWAS897136 (human)9e-09stroke, major depressive disorder122380724323807244Human
406945065GWAS594041_Hhematocrit QTL GWAS594041 (human)4e-10hematocrithematocrit (CMO:0000037)122400389524003896Human
407064362GWAS713338_Hhemorrhoid QTL GWAS713338 (human)3e-13hemorrhoid122428672724286728Human
406995752GWAS644728_Htestosterone measurement QTL GWAS644728 (human)6e-09testosterone measurementserum testosterone level (CMO:0000568)122410429424104295Human
406908721GWAS557697_Hunipolar depression, bipolar disorder QTL GWAS557697 (human)3e-09unipolar depression, bipolar disorder122379480323794804Human
406995251GWAS644227_Hmean corpuscular hemoglobin concentration QTL GWAS644227 (human)6e-17mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)122404210824042109Human
406894902GWAS543878_Hbody surface area QTL GWAS543878 (human)1e-14body surface area122391881423918815Human
406959421GWAS608397_Hbody mass index QTL GWAS608397 (human)5e-09body mass indexbody mass index (BMI) (CMO:0000105)122360099323600994Human
406959423GWAS608399_Hbody mass index QTL GWAS608399 (human)2e-12body mass indexbody mass index (BMI) (CMO:0000105)122384897123848972Human
407108033GWAS757009_Hself reported educational attainment QTL GWAS757009 (human)3e-08self reported educational attainment122404265324042654Human
407108032GWAS757008_Hself reported educational attainment QTL GWAS757008 (human)8e-09self reported educational attainment122354479123544792Human
407245250GWAS894226_Hsex hormone-binding globulin measurement QTL GWAS894226 (human)3e-09sex hormone-binding globulin measurement122405339224053393Human
407297480GWAS946456_Hsystolic blood pressure QTL GWAS946456 (human)7e-10systolic blood pressuresystolic blood pressure (CMO:0000004)122405766524057666Human
407075280GWAS724256_H3-hydroxyhippurate measurement QTL GWAS724256 (human)0.00000043-hydroxyhippurate measurement122355823223558233Human
407094742GWAS743718_Hbody mass index QTL GWAS743718 (human)2e-13body mass indexbody mass index (BMI) (CMO:0000105)122385550123855502Human
406909910GWAS558886_Htype 2 diabetes mellitus QTL GWAS558886 (human)2e-08type 2 diabetes mellitus122393707023937071Human
406987227GWAS636203_Hwellbeing measurement QTL GWAS636203 (human)3e-08wellbeing measurement122427547124275472Human
407155679GWAS804655_Hattempted suicide QTL GWAS804655 (human)2e-08attempted suicide122406070024060701Human
406936029GWAS585005_Hneuroticism measurement QTL GWAS585005 (human)3e-08neuroticism measurement122390079823900799Human
407032290GWAS681266_Heducational attainment QTL GWAS681266 (human)8e-10educational attainment122354545323545454Human
407032291GWAS681267_Heducational attainment QTL GWAS681267 (human)4e-10educational attainment122355800823558009Human
406917603GWAS566579_HBack pain QTL GWAS566579 (human)1e-16Back pain122382962523829626Human
407010273GWAS659249_Hsex hormone-binding globulin measurement QTL GWAS659249 (human)2e-30sex hormone-binding globulin measurement122405016224050163Human
407032294GWAS681270_Heducational attainment QTL GWAS681270 (human)4e-13educational attainment122379209723792098Human
407032292GWAS681268_Heducational attainment QTL GWAS681268 (human)3e-09educational attainment122358650323586504Human
407032293GWAS681269_Heducational attainment QTL GWAS681269 (human)2e-09educational attainment122370740023707401Human
407032298GWAS681274_Heducational attainment QTL GWAS681274 (human)9e-09educational attainment122438155724381558Human
407121901GWAS770877_Hglucose measurement QTL GWAS770877 (human)3e-09glucose measurementblood glucose level (CMO:0000046)122390779823907799Human
407032296GWAS681272_Heducational attainment QTL GWAS681272 (human)5e-11educational attainment122404265324042654Human
407043560GWAS692536_Hbody mass index QTL GWAS692536 (human)4e-08body mass indexbody mass index (BMI) (CMO:0000105)122360099323600994Human
407032297GWAS681273_Heducational attainment QTL GWAS681273 (human)1e-09educational attainment122424233824242339Human
406997491GWAS646467_Hmean corpuscular hemoglobin concentration QTL GWAS646467 (human)2e-15mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)122404524424045245Human
407010288GWAS659264_Hbody mass index QTL GWAS659264 (human)7e-08body mass indexbody mass index (BMI) (CMO:0000105)122392257423922575Human
407095280GWAS744256_HT wave morphology measurement QTL GWAS744256 (human)4e-19T wave morphology measurementT wave amplitude (CMO:0000277)122444225824442259Human
407095286GWAS744262_HT wave morphology measurement QTL GWAS744262 (human)3e-12T wave morphology measurementT wave amplitude (CMO:0000277)122444225824442259Human
406986741GWAS635717_Hsex hormone-binding globulin measurement QTL GWAS635717 (human)9e-14sex hormone-binding globulin measurement122404524424045245Human
407095291GWAS744267_HT wave morphology measurement QTL GWAS744267 (human)1e-16T wave morphology measurementT wave amplitude (CMO:0000277)122442392524423926Human
407008249GWAS657225_Hfemoral neck size QTL GWAS657225 (human)1e-11femoral neck sizefemoral neck morphological measurement (CMO:0001672)122402666724026668Human
407001596GWAS650572_Hmean corpuscular volume QTL GWAS650572 (human)6e-16mean corpuscular volumemean corpuscular volume (CMO:0000038)122404524424045245Human
407060353GWAS709329_Hchronotype measurement QTL GWAS709329 (human)4e-08chronotype measurement122393638823936389Human
407029639GWAS678615_Hbody mass index QTL GWAS678615 (human)1e-11body mass indexbody mass index (BMI) (CMO:0000105)122385550123855502Human
407316354GWAS965330_Hdiet measurement QTL GWAS965330 (human)1e-08diet measurementfood intake measurement (CMO:0000772)122385168423851685Human
407105924GWAS754900_Hreaction time measurement QTL GWAS754900 (human)0.000004reaction time measurement122424826624248267Human
407109515GWAS758491_Helectrocardiography QTL GWAS758491 (human)8e-38electrocardiography122444225824442259Human
407100298GWAS749274_Hmathematical ability QTL GWAS749274 (human)3e-08mathematical ability122422089424220895Human
407109514GWAS758490_Helectrocardiography QTL GWAS758490 (human)2e-37electrocardiography122444225824442259Human
407292812GWAS941788_Halcohol consumption measurement QTL GWAS941788 (human)8e-11alcohol consumption measurementethanol drink intake rate (CMO:0001407)122385216723852168Human
407109519GWAS758495_Helectrocardiography QTL GWAS758495 (human)2e-39electrocardiography122444225824442259Human
407109518GWAS758494_Helectrocardiography QTL GWAS758494 (human)4e-39electrocardiography122444225824442259Human
407109517GWAS758493_Helectrocardiography QTL GWAS758493 (human)3e-38electrocardiography122444225824442259Human
407109516GWAS758492_Helectrocardiography QTL GWAS758492 (human)3e-37electrocardiography122444225824442259Human
407109523GWAS758499_Helectrocardiography QTL GWAS758499 (human)3e-44electrocardiography122444225824442259Human
407109522GWAS758498_Helectrocardiography QTL GWAS758498 (human)3e-42electrocardiography122444225824442259Human
407109521GWAS758497_Helectrocardiography QTL GWAS758497 (human)1e-40electrocardiography122444225824442259Human
407109520GWAS758496_Helectrocardiography QTL GWAS758496 (human)2e-40electrocardiography122444225824442259Human
407109526GWAS758502_Helectrocardiography QTL GWAS758502 (human)8e-47electrocardiography122444225824442259Human
407109525GWAS758501_Helectrocardiography QTL GWAS758501 (human)2e-46electrocardiography122444225824442259Human
407109524GWAS758500_Helectrocardiography QTL GWAS758500 (human)8e-45electrocardiography122444225824442259Human
406906779GWAS555755_Hsmoking initiation QTL GWAS555755 (human)2e-12smoking initiation122406899124068992Human
406906780GWAS555756_Hsmoking initiation QTL GWAS555756 (human)2e-09smoking initiation122432910024329101Human
406892445GWAS541421_Hbody weight QTL GWAS541421 (human)2e-08body mass (VT:0001259)body weight (CMO:0000012)122353636723536368Human
406906781GWAS555757_Hsmoking initiation QTL GWAS555757 (human)5e-19smoking initiation122454485624544857Human
407085980GWAS734956_Hcreatinine measurement QTL GWAS734956 (human)6e-09creatinine measurementblood creatinine measurement (CMO:0000767)122374665923746660Human
407358374GWAS1007350_HBMI-adjusted hip circumference QTL GWAS1007350 (human)2e-08BMI-adjusted hip circumferencehip circumference (CMO:0000014)122404265324042654Human
407003040GWAS652016_Hbody mass index QTL GWAS652016 (human)1e-09body mass indexbody mass index (BMI) (CMO:0000105)122446841424468415Human
406917541GWAS566517_HBack pain QTL GWAS566517 (human)1e-14Back pain122382228523822286Human
407122848GWAS771824_Hhair colour measurement QTL GWAS771824 (human)2e-20hair colour measurementcoat/hair color measurement (CMO:0001808)122382685723826858Human
407028648GWAS677624_Hsex hormone-binding globulin measurement QTL GWAS677624 (human)9e-14sex hormone-binding globulin measurement122405339224053393Human
406953388GWAS602364_Halpha angle measurement QTL GWAS602364 (human)3e-08femur morphology trait (VT:0000559)122405318424053185Human
407077294GWAS726270_Hfacial asymmetry measurement QTL GWAS726270 (human)1e-13facial asymmetry measurement122358861223588613Human
407344040GWAS993016_Hurate measurement QTL GWAS993016 (human)3e-08urate measurementblood uric acid level (CMO:0000501)122375329823753299Human
407334838GWAS983814_Huric acid measurement QTL GWAS983814 (human)1e-10uric acid measurementblood uric acid level (CMO:0000501)122372662023726621Human
407017910GWAS666886_Hatrial fibrillation QTL GWAS666886 (human)2e-17atrial fibrillation122456211424562115Human
406983092GWAS632068_Hunipolar depression QTL GWAS632068 (human)1e-11unipolar depression122383499123834992Human
407231929GWAS880905_Hbody height QTL GWAS880905 (human)1e-09body height (VT:0001253)body height (CMO:0000106)122413521924135220Human
407083966GWAS732942_Hglomerular filtration rate QTL GWAS732942 (human)7e-09glomerular filtration rateglomerular filtration rate (CMO:0000490)122374665923746660Human
407093692GWAS742668_Hbody mass index QTL GWAS742668 (human)1e-09body mass indexbody mass index (BMI) (CMO:0000105)122360099323600994Human
407231930GWAS880906_Hbody height QTL GWAS880906 (human)5e-11body height (VT:0001253)body height (CMO:0000106)122455162924551630Human

Markers in Region
D12S1591  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371224,093,573 - 24,093,840UniSTSGRCh37
Build 361223,984,840 - 23,985,107RGDNCBI36
Celera1229,241,104 - 29,241,367RGD
Cytogenetic Map12p12.1UniSTS
HuRef1223,862,295 - 23,862,558UniSTS
Marshfield Genetic Map1243.38RGD
Marshfield Genetic Map1243.38UniSTS
Genethon Genetic Map1244.3UniSTS
deCODE Assembly Map1243.83UniSTS
Whitehead-YAC Contig Map12 UniSTS
D12S1057  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371224,677,144 - 24,677,366UniSTSGRCh37
Build 361224,568,411 - 24,568,633RGDNCBI36
Celera1229,824,023 - 29,824,249RGD
Cytogenetic Map12p12.1UniSTS
HuRef1224,446,200 - 24,446,430UniSTS
Marshfield Genetic Map1244.03UniSTS
Marshfield Genetic Map1244.03RGD
deCODE Assembly Map1245.46UniSTS
Stanford-G3 RH Map121215.0UniSTS
Whitehead-RH Map12171.2UniSTS
Whitehead-YAC Contig Map12 UniSTS
NCBI RH Map12271.8UniSTS
WI-3881  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371224,222,441 - 24,222,616UniSTSGRCh37
Build 361224,113,708 - 24,113,883RGDNCBI36
Celera1229,369,254 - 29,369,429RGD
Cytogenetic Map12p12.1UniSTS
HuRef1223,991,660 - 23,991,835UniSTS
Whitehead-RH Map12168.7UniSTS
NCBI RH Map12268.3UniSTS
STS-H73926  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371223,984,930 - 23,985,092UniSTSGRCh37
Build 361223,876,197 - 23,876,359RGDNCBI36
Celera1229,132,920 - 29,133,082RGD
Cytogenetic Map12p12.1UniSTS
HuRef1223,753,640 - 23,753,802UniSTS
GeneMap99-GB4 RH Map1289.44UniSTS
RH80811  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371223,686,884 - 23,687,117UniSTSGRCh37
GRCh37888,800,528 - 88,800,752UniSTSGRCh37
Build 36888,869,644 - 88,869,868RGDNCBI36
Celera884,995,159 - 84,995,383RGD
Celera1228,834,851 - 28,835,084UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map12p12.1UniSTS
HuRef884,010,842 - 84,011,066UniSTS
HuRef1223,454,252 - 23,454,485UniSTS
GeneMap99-GB4 RH Map1292.32UniSTS
RH80021  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371224,233,070 - 24,233,254UniSTSGRCh37
Build 361224,124,337 - 24,124,521RGDNCBI36
Celera1229,379,883 - 29,380,067RGD
Cytogenetic Map12p12.1UniSTS
HuRef1224,002,300 - 24,002,484UniSTS
RH103584  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371224,277,134 - 24,277,310UniSTSGRCh37
Build 361224,168,401 - 24,168,577RGDNCBI36
Celera1229,423,941 - 29,424,117RGD
Cytogenetic Map12p12.1UniSTS
HuRef1224,046,211 - 24,046,387UniSTS
GeneMap99-GB4 RH Map1289.54UniSTS
SHGC-80033  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371223,735,658 - 23,735,933UniSTSGRCh37
Build 361223,626,925 - 23,627,200RGDNCBI36
Celera1228,883,602 - 28,883,877RGD
Cytogenetic Map12p12.1UniSTS
HuRef1223,504,904 - 23,505,179UniSTS
TNG Radiation Hybrid Map1210262.0UniSTS
SHGC-79400  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371224,455,642 - 24,455,969UniSTSGRCh37
Build 361224,346,909 - 24,347,236RGDNCBI36
Celera1229,602,479 - 29,602,806RGD
Cytogenetic Map12p12.1UniSTS
HuRef1224,224,656 - 24,224,983UniSTS
TNG Radiation Hybrid Map129894.0UniSTS
SHGC-85675  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371223,925,452 - 23,925,761UniSTSGRCh37
Build 361223,816,719 - 23,817,028RGDNCBI36
Celera1229,073,426 - 29,073,735RGD
Cytogenetic Map12p12.1UniSTS
HuRef1223,694,712 - 23,695,021UniSTS
TNG Radiation Hybrid Map1210162.0UniSTS
RH120347  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371224,133,427 - 24,133,702UniSTSGRCh37
Build 361224,024,694 - 24,024,969RGDNCBI36
Celera1229,280,717 - 29,280,992RGD
Cytogenetic Map12p12.1UniSTS
HuRef1223,902,073 - 23,902,348UniSTS
TNG Radiation Hybrid Map1210069.0UniSTS
G60361  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371224,093,573 - 24,093,853UniSTSGRCh37
Build 361223,984,840 - 23,985,120RGDNCBI36
Celera1229,241,104 - 29,241,380RGD
Cytogenetic Map12p12.1UniSTS
HuRef1223,862,295 - 23,862,571UniSTS
TNG Radiation Hybrid Map313872.0UniSTS
TNG Radiation Hybrid Map1210089.0UniSTS
G62383  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371224,269,703 - 24,269,953UniSTSGRCh37
Build 361224,160,970 - 24,161,220RGDNCBI36
Celera1229,416,511 - 29,416,761RGD
Cytogenetic Map12p12.1UniSTS
HuRef1224,038,779 - 24,039,031UniSTS
G62747  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371224,084,662 - 24,084,947UniSTSGRCh37
Build 361223,975,929 - 23,976,214RGDNCBI36
Celera1229,232,193 - 29,232,478RGD
Cytogenetic Map12p12.1UniSTS
HuRef1223,853,384 - 23,853,669UniSTS
TNG Radiation Hybrid Map1210084.0UniSTS
G62804  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371224,505,751 - 24,506,080UniSTSGRCh37
Build 361224,397,018 - 24,397,347RGDNCBI36
Celera1229,652,599 - 29,652,928RGD
Cytogenetic Map12p12.1UniSTS
HuRef1224,274,802 - 24,275,131UniSTS
TNG Radiation Hybrid Map129854.0UniSTS
G62989  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371224,358,691 - 24,359,009UniSTSGRCh37
Build 361224,249,958 - 24,250,276RGDNCBI36
Celera1229,505,489 - 29,505,807RGD
Cytogenetic Map12p12.1UniSTS
HuRef1224,127,747 - 24,128,064UniSTS
TNG Radiation Hybrid Map129977.0UniSTS
G63683  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371224,202,014 - 24,202,118UniSTSGRCh37
Build 361224,093,281 - 24,093,385RGDNCBI36
Celera1229,348,826 - 29,348,930RGD
Cytogenetic Map12p12.1UniSTS
HuRef1223,971,131 - 23,971,235UniSTS
TNG Radiation Hybrid Map1210019.0UniSTS
G63717  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371224,401,183 - 24,401,388UniSTSGRCh37
Build 361224,292,450 - 24,292,655RGDNCBI36
Celera1229,547,967 - 29,548,172RGD
Cytogenetic Map12p12.1UniSTS
HuRef1224,170,214 - 24,170,419UniSTS
TNG Radiation Hybrid Map129948.0UniSTS
SHGC-106422  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371224,463,303 - 24,463,638UniSTSGRCh37
Build 361224,354,570 - 24,354,905RGDNCBI36
Celera1229,610,136 - 29,610,471RGD
Cytogenetic Map12p12.1UniSTS
HuRef1224,232,321 - 24,232,656UniSTS
TNG Radiation Hybrid Map129885.0UniSTS
SHGC-108028  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371223,816,943 - 23,817,292UniSTSGRCh37
Build 361223,708,210 - 23,708,559RGDNCBI36
Celera1228,964,906 - 28,965,255RGD
Cytogenetic Map12p12.1UniSTS
HuRef1223,586,216 - 23,586,569UniSTS
TNG Radiation Hybrid Map1210215.0UniSTS
SHGC-107736  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371224,459,205 - 24,459,548UniSTSGRCh37
Build 361224,350,472 - 24,350,815RGDNCBI36
Celera1229,606,042 - 29,606,385RGD
Cytogenetic Map12p12.1UniSTS
HuRef1224,228,219 - 24,228,562UniSTS
TNG Radiation Hybrid Map129891.0UniSTS
SHGC-146191  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371224,393,245 - 24,393,534UniSTSGRCh37
Build 361224,284,512 - 24,284,801RGDNCBI36
Celera1229,540,031 - 29,540,320RGD
Cytogenetic Map12p12.1UniSTS
HuRef1224,162,279 - 24,162,568UniSTS
TNG Radiation Hybrid Map129942.0UniSTS
SHGC-148450  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371224,392,885 - 24,393,220UniSTSGRCh37
Build 361224,284,152 - 24,284,487RGDNCBI36
Celera1229,539,671 - 29,540,006RGD
Cytogenetic Map12p12.1UniSTS
HuRef1224,161,919 - 24,162,254UniSTS
TNG Radiation Hybrid Map129945.0UniSTS
SHGC-155005  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371224,144,416 - 24,144,686UniSTSGRCh37
Build 361224,035,683 - 24,035,953RGDNCBI36
Celera1229,291,710 - 29,291,980RGD
Cytogenetic Map12p12.1UniSTS
HuRef1223,913,067 - 23,913,337UniSTS
TNG Radiation Hybrid Map1210061.0UniSTS
SHGC-155556  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371223,787,675 - 23,787,948UniSTSGRCh37
Build 361223,678,942 - 23,679,215RGDNCBI36
Celera1228,935,630 - 28,935,903RGD
Cytogenetic Map12p12.1UniSTS
HuRef1223,556,927 - 23,557,200UniSTS
TNG Radiation Hybrid Map1210238.0UniSTS
SHGC-84176  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371224,131,118 - 24,131,466UniSTSGRCh37
Build 361224,022,385 - 24,022,733RGDNCBI36
Celera1229,278,411 - 29,278,759RGD
Cytogenetic Map12p12.1UniSTS
HuRef1223,899,765 - 23,900,113UniSTS
TNG Radiation Hybrid Map1210071.0UniSTS
SHGC-155690  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371224,382,223 - 24,382,496UniSTSGRCh37
Build 361224,273,490 - 24,273,763RGDNCBI36
Celera1229,529,010 - 29,529,282RGD
Cytogenetic Map12p12.1UniSTS
HuRef1224,151,258 - 24,151,530UniSTS
TNG Radiation Hybrid Map129928.0UniSTS
WI-18056  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371224,419,777 - 24,419,920UniSTSGRCh37
Build 361224,311,044 - 24,311,187RGDNCBI36
Celera1229,566,547 - 29,566,690RGD
Cytogenetic Map12p12.1UniSTS
HuRef1224,188,833 - 24,188,976UniSTS
GeneMap99-GB4 RH Map1289.86UniSTS
Whitehead-RH Map12167.3UniSTS
NCBI RH Map12271.8UniSTS
D12S292  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371224,424,751 - 24,425,000UniSTSGRCh37
Build 361224,316,018 - 24,316,267RGDNCBI36
Celera1229,571,520 - 29,571,769RGD
Cytogenetic Map12p12.1UniSTS
HuRef1224,193,807 - 24,194,058UniSTS
RH45564  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371224,353,485 - 24,353,705UniSTSGRCh37
Build 361224,244,752 - 24,244,972RGDNCBI36
Celera1229,500,278 - 29,500,498RGD
Cytogenetic Map12p12.1UniSTS
HuRef1224,122,539 - 24,122,759UniSTS
GeneMap99-GB4 RH Map1289.86UniSTS
D12S1822  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371223,797,611 - 23,797,897UniSTSGRCh37
Build 361223,688,878 - 23,689,164RGDNCBI36
Celera1228,945,566 - 28,945,852RGD
Cytogenetic Map12p12.1UniSTS
HuRef1223,566,863 - 23,567,149UniSTS
Stanford-G3 RH Map121196.0UniSTS
NCBI RH Map12265.9UniSTS
STS-N27112  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371224,699,312 - 24,699,585UniSTSGRCh37
Build 361224,590,579 - 24,590,852RGDNCBI36
Celera1229,846,203 - 29,846,476RGD
Cytogenetic Map12p12.1UniSTS
HuRef1224,468,377 - 24,468,650UniSTS
GeneMap99-GB4 RH Map1292.37UniSTS
NCBI RH Map12271.8UniSTS
G17656  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371224,531,575 - 24,531,775UniSTSGRCh37
Build 361224,422,842 - 24,423,042RGDNCBI36
Celera1229,678,429 - 29,678,629RGD
Cytogenetic Map12p12.1UniSTS
HuRef1224,300,612 - 24,300,812UniSTS
RH45463  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371224,440,557 - 24,440,799UniSTSGRCh37
Build 361224,331,824 - 24,332,066RGDNCBI36
Celera1229,587,390 - 29,587,632RGD
Cytogenetic Map12p12.1UniSTS
HuRef1224,209,667 - 24,209,909UniSTS
GeneMap99-GB4 RH Map1289.02UniSTS
NCBI RH Map12246.1UniSTS
G35318  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371223,821,655 - 23,821,760UniSTSGRCh37
Build 361223,712,922 - 23,713,027RGDNCBI36
Celera1228,969,619 - 28,969,724RGD
Cytogenetic Map12p12.1UniSTS
HuRef1223,590,933 - 23,591,038UniSTS
G19258  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371224,367,128 - 24,367,338UniSTSGRCh37
Build 361224,258,395 - 24,258,605RGDNCBI36
Celera1229,513,925 - 29,514,135RGD
Cytogenetic Map12p12.1UniSTS
HuRef1224,136,173 - 24,136,383UniSTS
D12S1942  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371223,815,296 - 23,815,423UniSTSGRCh37
Build 361223,706,563 - 23,706,690RGDNCBI36
Celera1228,963,259 - 28,963,386RGD
Cytogenetic Map12p12.1UniSTS
HuRef1223,584,569 - 23,584,696UniSTS
Whitehead-RH Map12165.5UniSTS
Whitehead-YAC Contig Map12 UniSTS
NCBI RH Map12263.5UniSTS
D12S1950  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371223,934,130 - 23,934,280UniSTSGRCh37
Build 361223,825,397 - 23,825,547RGDNCBI36
Celera1229,082,118 - 29,082,268RGD
Cytogenetic Map12p12.1UniSTS
HuRef1223,703,404 - 23,703,554UniSTS
Whitehead-RH Map12168.7UniSTS
Whitehead-YAC Contig Map12 UniSTS
NCBI RH Map12268.3UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2336 2787 2234 4944 1710 2252 2 618 1629 458 2257 6847 6132 40 3719 801 1682 1529 166 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001261414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001261415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_178010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB081588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB081589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB081590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB081591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC069208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC087244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC087260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC087312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC087319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC087322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC112915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC060773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM988193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU675886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX098902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA343699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR003434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC025818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX570584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX570585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA986100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA986101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA986102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S83308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X65662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000367206   ⟹   ENSP00000356174
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1223,536,530 - 23,950,920 (-)Ensembl
Ensembl Acc Id: ENST00000381381   ⟹   ENSP00000370788
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1223,532,298 - 23,949,703 (-)Ensembl
Ensembl Acc Id: ENST00000396007   ⟹   ENSP00000379328
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1223,534,034 - 23,584,612 (-)Ensembl
Ensembl Acc Id: ENST00000429944
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1224,277,250 - 24,562,493 (-)Ensembl
Ensembl Acc Id: ENST00000441133   ⟹   ENSP00000393240
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1223,762,475 - 23,951,020 (-)Ensembl
Ensembl Acc Id: ENST00000446891   ⟹   ENSP00000494627
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1223,895,852 - 24,562,487 (-)Ensembl
Ensembl Acc Id: ENST00000451604   ⟹   ENSP00000398273
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1223,529,504 - 23,949,670 (-)Ensembl
Ensembl Acc Id: ENST00000456299
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1224,331,286 - 24,562,544 (-)Ensembl
Ensembl Acc Id: ENST00000535530
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1223,563,316 - 23,738,506 (-)Ensembl
Ensembl Acc Id: ENST00000536629
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1223,575,813 - 23,738,506 (-)Ensembl
Ensembl Acc Id: ENST00000536729   ⟹   ENSP00000496161
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1223,845,999 - 24,357,430 (-)Ensembl
Ensembl Acc Id: ENST00000536850
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1223,920,038 - 23,949,592 (-)Ensembl
Ensembl Acc Id: ENST00000536911
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1223,603,921 - 23,734,715 (-)Ensembl
Ensembl Acc Id: ENST00000537393   ⟹   ENSP00000439832
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1223,533,683 - 23,949,647 (-)Ensembl
Ensembl Acc Id: ENST00000538083   ⟹   ENSP00000441579
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1223,845,991 - 23,944,352 (-)Ensembl
Ensembl Acc Id: ENST00000538905
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1224,367,935 - 24,562,382 (-)Ensembl
Ensembl Acc Id: ENST00000541847   ⟹   ENSP00000442119
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1223,740,851 - 23,950,907 (-)Ensembl
Ensembl Acc Id: ENST00000542241
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1223,575,659 - 23,632,194 (-)Ensembl
Ensembl Acc Id: ENST00000545921   ⟹   ENSP00000443520
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1223,534,048 - 23,951,032 (-)Ensembl
Ensembl Acc Id: ENST00000646273   ⟹   ENSP00000493866
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1223,533,787 - 24,562,449 (-)Ensembl
Ensembl Acc Id: ENST00000659413   ⟹   ENSP00000499309
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1223,740,301 - 24,562,459 (-)Ensembl
Ensembl Acc Id: ENST00000704296   ⟹   ENSP00000515820
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1223,533,883 - 23,584,586 (-)Ensembl
Ensembl Acc Id: ENST00000704297   ⟹   ENSP00000515821
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1223,533,884 - 23,585,832 (-)Ensembl
Ensembl Acc Id: ENST00000704298   ⟹   ENSP00000515822
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1223,533,934 - 24,562,449 (-)Ensembl
Ensembl Acc Id: ENST00000704299   ⟹   ENSP00000515823
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1223,533,941 - 23,979,526 (-)Ensembl
Ensembl Acc Id: ENST00000704300   ⟹   ENSP00000515824
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1223,740,881 - 24,562,449 (-)Ensembl
RefSeq Acc Id: NM_001261414   ⟹   NP_001248343
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381223,529,504 - 24,562,491 (-)NCBI
HuRef1223,452,599 - 24,484,456 (-)NCBI
CHM1_11223,650,324 - 24,680,623 (-)NCBI
T2T-CHM13v2.01223,401,301 - 24,433,308 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001261415   ⟹   NP_001248344
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381223,529,504 - 23,950,927 (-)NCBI
HuRef1223,452,599 - 24,484,456 (-)NCBI
CHM1_11223,650,324 - 24,069,014 (-)NCBI
T2T-CHM13v2.01223,401,301 - 23,822,170 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001330785   ⟹   NP_001317714
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381223,529,504 - 23,949,670 (-)NCBI
T2T-CHM13v2.01223,401,301 - 23,820,913 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006940   ⟹   NP_008871
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381223,529,504 - 23,949,670 (-)NCBI
GRCh371223,682,438 - 24,715,383 (-)NCBI
Build 361223,576,498 - 23,993,904 (-)NCBI Archive
HuRef1223,452,599 - 24,484,456 (-)NCBI
CHM1_11223,650,324 - 24,067,687 (-)NCBI
T2T-CHM13v2.01223,401,301 - 23,820,913 (-)NCBI
Sequence:
RefSeq Acc Id: NM_152989   ⟹   NP_694534
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381223,529,504 - 24,562,491 (-)NCBI
GRCh371223,682,438 - 24,715,383 (-)NCBI
Build 361223,576,498 - 24,606,647 (-)NCBI Archive
HuRef1223,452,599 - 24,484,456 (-)NCBI
CHM1_11223,650,324 - 24,680,623 (-)NCBI
T2T-CHM13v2.01223,401,301 - 24,433,308 (-)NCBI
Sequence:
RefSeq Acc Id: NM_178010   ⟹   NP_821078
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381223,529,504 - 23,584,586 (-)NCBI
GRCh371223,682,438 - 24,715,383 (-)NCBI
Build 361223,576,498 - 23,628,775 (-)NCBI Archive
HuRef1223,452,599 - 24,484,456 (-)NCBI
CHM1_11223,650,324 - 23,702,588 (-)NCBI
T2T-CHM13v2.01223,401,301 - 23,456,378 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011520832   ⟹   XP_011519134
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381223,529,504 - 23,950,927 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011520833   ⟹   XP_011519135
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381223,529,504 - 23,950,927 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011520835   ⟹   XP_011519137
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381223,529,504 - 24,562,491 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011520837   ⟹   XP_011519139
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381223,529,504 - 23,944,312 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017019888   ⟹   XP_016875377
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381223,529,504 - 23,950,927 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017019889   ⟹   XP_016875378
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381223,529,504 - 23,950,927 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017019890   ⟹   XP_016875379
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381223,529,504 - 24,562,491 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017019891   ⟹   XP_016875380
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381223,529,504 - 24,562,650 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017019892   ⟹   XP_016875381
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381223,529,504 - 24,562,650 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017019893   ⟹   XP_016875382
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381223,529,504 - 24,562,491 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017019894   ⟹   XP_016875383
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381223,529,504 - 24,050,083 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017019895   ⟹   XP_016875384
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381223,529,504 - 23,950,416 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017019902   ⟹   XP_016875391
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381223,563,257 - 23,950,927 (-)NCBI
Sequence: