SLC12A2 (solute carrier family 12 member 2) - Rat Genome Database

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Gene: SLC12A2 (solute carrier family 12 member 2) Homo sapiens
Analyze
Symbol: SLC12A2
Name: solute carrier family 12 member 2
RGD ID: 732816
HGNC Page HGNC:10911
Description: Enables several functions, including Hsp90 protein binding activity; inorganic cation transmembrane transporter activity; and protein-folding chaperone binding activity. Involved in several processes, including inorganic cation transmembrane transport; transepithelial ammonium transport; and transepithelial chloride transport. Located in several cellular components, including apical plasma membrane; basal plasma membrane; and lateral plasma membrane. Is active in plasma membrane. Implicated in autosomal dominant nonsyndromic deafness 78. Biomarker of middle cerebral artery infarction.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: basolateral Na-K-Cl symporter; BSC; BSC-2; BSC2; bumetanide-sensitive cotransporter type 2; bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1; bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2; CCC1; hNKCC1; KILQS; MGC104233; Na-K-2Cl cotransporter 1; NKCC1; PPP1R141; solute carrier family 12 (sodium/potassium/chloride transporter), member 2; solute carrier family 12 (sodium/potassium/chloride transporters), member 2; solute carrier family 12, member 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385128,083,766 - 128,189,677 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5128,083,766 - 128,189,677 (+)EnsemblGRCh38hg38GRCh38
GRCh375127,419,458 - 127,525,369 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365127,447,382 - 127,553,279 (+)NCBINCBI36Build 36hg18NCBI36
Build 345127,447,381 - 127,553,278NCBI
Celera5123,551,492 - 123,657,387 (+)NCBICelera
Cytogenetic Map5q23.3NCBI
HuRef5122,610,291 - 122,716,113 (+)NCBIHuRef
CHM1_15126,852,070 - 126,957,950 (+)NCBICHM1_1
T2T-CHM13v2.05128,602,602 - 128,708,515 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(R)-lipoic acid  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
4-hydroxy-TEMPO  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
7,9-dihydro-1H-purine-2,6,8(3H)-trione  (ISO)
acetamide  (ISO)
actinomycin D  (EXP)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucose  (ISO)
aldosterone  (ISO)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
ammonia  (ISO)
ammonium chloride  (ISO)
atrazine  (ISO)
azosemide  (EXP,ISO)
benzo[a]pyrene  (EXP,ISO)
beta-lapachone  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
Brodifacoum  (ISO)
bumetanide  (EXP,ISO)
butanal  (EXP)
Butylbenzyl phthalate  (ISO)
caffeine  (EXP)
calyculin a  (ISO)
capsaicin  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
carmustine  (ISO)
CGP 52608  (EXP)
chenodeoxycholic acid  (EXP)
chlorothalonil  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
chromium(6+)  (ISO)
cobalt dichloride  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
D-glucose  (ISO)
daidzein  (EXP)
DDT  (ISO)
deoxycholic acid  (EXP)
dexamethasone  (ISO)
dextran sulfate  (ISO)
dibutyl phthalate  (ISO)
diethyl phthalate  (ISO)
diethylstilbestrol  (EXP)
diisobutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
diquat  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
enilconazole  (ISO)
Enterolactone  (EXP)
estriol  (EXP)
estrone  (EXP)
etacrynic acid  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
Evodiamine  (ISO)
fasudil  (EXP)
flavonoids  (ISO)
fluoranthene  (ISO)
folic acid  (ISO)
FR900359  (EXP)
furan  (ISO)
furosemide  (EXP,ISO)
gallic acid  (EXP)
genistein  (EXP)
gentamycin  (ISO)
glucose  (ISO)
glycitein  (EXP)
glycochenodeoxycholic acid  (EXP)
glycocholic acid  (EXP)
glycodeoxycholic acid  (EXP)
hydrogen peroxide  (EXP,ISO)
iron atom  (ISO)
iron(0)  (ISO)
ivermectin  (EXP)
L-methionine  (ISO)
lead diacetate  (ISO)
linsidomine  (ISO)
lipoic acid  (ISO)
maneb  (ISO)
manganese atom  (ISO)
manganese(0)  (ISO)
mercury atom  (ISO)
mercury(0)  (ISO)
methimazole  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
nickel dichloride  (EXP)
nimesulide  (ISO)
Nonylphenol  (EXP)
Nutlin-3  (EXP)
paclitaxel  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
phenethyl isothiocyanate  (ISO)
phenobarbital  (ISO)
phenylephrine  (ISO)
PhIP  (ISO)
Piretanide  (EXP)
pirinixic acid  (ISO)
procymidone  (ISO)
pyrogallol  (ISO)
quercetin  (EXP)
rotenone  (ISO)
rubidium atom  (EXP,ISO)
SB 431542  (EXP)
selenium atom  (EXP)
silicon dioxide  (EXP)
spironolactone  (ISO)
sunitinib  (EXP)
tert-butanol  (ISO)
tetrachloromethane  (ISO)
thimerosal  (EXP)
thioacetamide  (ISO)
tienilic acid  (EXP)
titanium dioxide  (ISO)
torasemide  (EXP)
triphenyl phosphate  (EXP,ISO)
valproic acid  (EXP)
vanadium atom  (EXP)
vanadium(0)  (EXP)
vitamin E  (EXP,ISO)
Y-27632  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
ammonium transmembrane transport  (IBA,IDA)
branching involved in mammary gland duct morphogenesis  (ISO)
cell volume homeostasis  (IBA,ISS,TAS)
cellular response to chemokine  (IMP)
cellular response to lipopolysaccharide  (ISO)
cellular response to potassium ion  (ISS)
chloride ion homeostasis  (IBA)
chloride transmembrane transport  (IBA,IEA,ISS,NAS)
chloride transport  (IEA,ISO)
detection of mechanical stimulus involved in sensory perception of sound  (ISO)
gamma-aminobutyric acid signaling pathway  (IEA,ISO,ISS)
hyperosmotic response  (IEA,ISO)
inorganic anion import across plasma membrane  (ISS)
inorganic cation import across plasma membrane  (IDA)
intracellular chloride ion homeostasis  (ISS,TAS)
intracellular potassium ion homeostasis  (ISS)
intracellular sodium ion homeostasis  (ISS)
maintenance of blood-brain barrier  (ISS,TAS)
mammary duct terminal end bud growth  (ISO)
monoatomic ion transport  (IEA,TAS)
multicellular organism growth  (ISO)
negative regulation of vascular wound healing  (ISS)
positive regulation of aspartate secretion  (ISS)
positive regulation of cell volume  (IEA,ISO)
potassium ion homeostasis  (IBA)
potassium ion import across plasma membrane  (IBA,ISS)
potassium ion transmembrane transport  (IEA)
potassium ion transport  (IEA,ISO)
regulation of matrix metallopeptidase secretion  (ISS)
regulation of spontaneous synaptic transmission  (IEA,ISS)
sodium ion homeostasis  (IBA)
sodium ion import across plasma membrane  (ISS)
sodium ion transmembrane transport  (IBA)
sodium ion transport  (IEA,ISO)
T cell chemotaxis  (IMP)
transepithelial ammonium transport  (IDA)
transepithelial chloride transport  (IDA)
transmembrane transport  (IEA)
transport across blood-brain barrier  (NAS)

Cellular Component

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

References - curated
# Reference Title Reference Citation
1. WNK-Cab39-NKCC1 signaling increases the susceptibility to ischemic brain damage in hypertensive rats. Bhuiyan MIH, etal., J Cereb Blood Flow Metab. 2017 Aug;37(8):2780-2794. doi: 10.1177/0271678X16675368. Epub 2016 Jan 1.
2. Expression of Na+-K+ -2Cl- cotransporter 1 is epigenetically regulated during postnatal development of hypertension. Cho HM, etal., Am J Hypertens. 2011 Dec;24(12):1286-93. doi: 10.1038/ajh.2011.136. Epub 2011 Aug 4.
3. NKCC1 transporter facilitates seizures in the developing brain. Dzhala VI, etal., Nat Med. 2005 Nov;11(11):1205-13. Epub 2005 Oct 9.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. Blood pressure regulates the activity and function of the Na-K-2Cl cotransporter in vascular smooth muscle. Jiang G, etal., Am J Physiol Heart Circ Physiol. 2004 Apr;286(4):H1552-7.
6. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. Long-lasting changes in the cochlear K recycling structures after acute energy failure. Takiguchi Y, etal., Neurosci Res. 2013 Jul 1. pii: S0168-0102(13)00159-4. doi: 10.1016/j.neures.2013.06.003.
9. Inhibition of Na(+)-K(+)-Cl(-) cotransporter during focal cerebral ischemia decreases edema and neuronal damage. Yan Y, etal., Brain Res. 2003 Jan 24;961(1):22-31.
Additional References at PubMed
PMID:7629105   PMID:8663127   PMID:8889548   PMID:8895530   PMID:9672238   PMID:10736171   PMID:11042348   PMID:11700976   PMID:11940529   PMID:11943682   PMID:12054469   PMID:12355171  
PMID:12477932   PMID:12657561   PMID:12740379   PMID:12946942   PMID:14563843   PMID:14982922   PMID:15280386   PMID:15347682   PMID:15899883   PMID:16222701   PMID:16669787   PMID:17255364  
PMID:17478539   PMID:17721439   PMID:18032481   PMID:18391953   PMID:18400987   PMID:18550547   PMID:19023125   PMID:19199708   PMID:19240061   PMID:19523148   PMID:19686239   PMID:19916249  
PMID:20044742   PMID:20061948   PMID:20379614   PMID:20442269   PMID:20458337   PMID:20471979   PMID:20732874   PMID:20819947   PMID:20819979   PMID:21139019   PMID:21613606   PMID:21847667  
PMID:21873635   PMID:22178882   PMID:22437837   PMID:22570591   PMID:22643131   PMID:22939629   PMID:22989884   PMID:23139219   PMID:23224734   PMID:23317544   PMID:23515529   PMID:23894354  
PMID:23921125   PMID:24173102   PMID:24339991   PMID:24451383   PMID:24555568   PMID:24711643   PMID:24755837   PMID:24769233   PMID:24797263   PMID:24944475   PMID:25218052   PMID:25468996  
PMID:25620102   PMID:25852190   PMID:25921289   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26559081   PMID:26638075   PMID:26955005   PMID:27170636   PMID:27400149   PMID:27782176  
PMID:27880917   PMID:28453575   PMID:28514442   PMID:28574574   PMID:28631939   PMID:28679472   PMID:29180619   PMID:29395067   PMID:29507755   PMID:29509190   PMID:29568061   PMID:30021884  
PMID:30159893   PMID:30194290   PMID:30280653   PMID:30442766   PMID:30575818   PMID:30631154   PMID:30639242   PMID:30759289   PMID:30840784   PMID:31056421   PMID:31073040   PMID:31091453  
PMID:31241262   PMID:31343991   PMID:31441327   PMID:31527615   PMID:31655271   PMID:31678930   PMID:31732153   PMID:31871319   PMID:31995728   PMID:32039487   PMID:32081947   PMID:32294086  
PMID:32333139   PMID:32393472   PMID:32658972   PMID:32665550   PMID:32788342   PMID:32877691   PMID:32913203   PMID:33345190   PMID:33500540   PMID:33597714   PMID:33662382   PMID:33957083  
PMID:33961781   PMID:34079125   PMID:34213892   PMID:34226616   PMID:34374074   PMID:34432599   PMID:34597346   PMID:34672954   PMID:34702444   PMID:34709727   PMID:35044719   PMID:35063084  
PMID:35256949   PMID:35271311   PMID:35337019   PMID:35384245   PMID:35624355   PMID:35696571   PMID:35844135   PMID:35968893   PMID:36215168   PMID:36239040   PMID:36323541   PMID:36610398  
PMID:36931259   PMID:36966392   PMID:36976175   PMID:37478010   PMID:37616343   PMID:37774976   PMID:37788672   PMID:38117590   PMID:38270169   PMID:38396064   PMID:38569033  


Genomics

Comparative Map Data
SLC12A2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385128,083,766 - 128,189,677 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5128,083,766 - 128,189,677 (+)EnsemblGRCh38hg38GRCh38
GRCh375127,419,458 - 127,525,369 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365127,447,382 - 127,553,279 (+)NCBINCBI36Build 36hg18NCBI36
Build 345127,447,381 - 127,553,278NCBI
Celera5123,551,492 - 123,657,387 (+)NCBICelera
Cytogenetic Map5q23.3NCBI
HuRef5122,610,291 - 122,716,113 (+)NCBIHuRef
CHM1_15126,852,070 - 126,957,950 (+)NCBICHM1_1
T2T-CHM13v2.05128,602,602 - 128,708,515 (+)NCBIT2T-CHM13v2.0
Slc12a2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391858,011,505 - 58,079,893 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1858,011,750 - 58,079,893 (+)EnsemblGRCm39 Ensembl
GRCm381857,878,512 - 57,946,821 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1857,878,678 - 57,946,821 (+)EnsemblGRCm38mm10GRCm38
MGSCv371858,038,332 - 58,106,475 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361858,004,047 - 58,072,174 (+)NCBIMGSCv36mm8
Celera1859,157,060 - 59,258,313 (+)NCBICelera
Cytogenetic Map18D3NCBI
cM Map1832.15NCBI
Slc12a2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81853,546,263 - 53,614,478 (+)NCBIGRCr8
mRatBN7.21851,348,282 - 51,416,448 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1851,348,302 - 51,416,440 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1853,386,123 - 53,454,234 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01854,100,680 - 54,168,791 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01851,899,024 - 51,967,160 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01852,917,124 - 52,985,281 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1852,917,124 - 52,985,261 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01852,104,434 - 52,172,638 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41853,673,215 - 53,741,352 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11853,735,140 - 53,805,295 (+)NCBI
Celera1849,478,614 - 49,546,320 (+)NCBICelera
Cytogenetic Map18q12.1NCBI
Slc12a2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554151,137,327 - 1,219,241 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554151,138,297 - 1,219,241 (+)NCBIChiLan1.0ChiLan1.0
SLC12A2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v24123,393,538 - 123,499,296 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan15121,533,101 - 121,638,856 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v05123,499,267 - 123,603,777 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.15129,260,476 - 129,364,563 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5129,262,134 - 129,364,563 (+)Ensemblpanpan1.1panPan2
SLC12A2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11117,143,943 - 17,256,248 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1117,143,943 - 17,253,695 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1115,939,385 - 16,051,806 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01117,881,289 - 17,994,035 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1117,881,289 - 17,991,854 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11116,604,869 - 16,717,534 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01116,450,079 - 16,562,728 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01117,054,476 - 17,167,223 (+)NCBIUU_Cfam_GSD_1.0
Slc12a2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213139,804,839 - 139,891,490 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365041,378,810 - 1,465,623 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365041,378,812 - 1,465,463 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC12A2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl2131,016,418 - 131,109,299 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.12131,016,430 - 131,109,307 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.22136,368,254 - 136,460,658 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SLC12A2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12331,028,514 - 31,132,263 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2331,029,026 - 31,132,289 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603446,918,396 - 47,021,968 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc12a2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462477413,236,306 - 13,335,412 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC12A2
410 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001046.3(SLC12A2):c.1352T>C (p.Ile451Thr) single nucleotide variant Inborn genetic diseases [RCV002748691] Chr5:128135752 [GRCh38]
Chr5:127471444 [GRCh37]
Chr5:5q23.3
uncertain significance
GRCh38/hg38 5q23.2-31.1(chr5:126438406-132873967)x1 copy number loss See cases [RCV000052109] Chr5:126438406..132873967 [GRCh38]
Chr5:125774098..132209659 [GRCh37]
Chr5:125801997..132237558 [NCBI36]
Chr5:5q23.2-31.1
pathogenic
GRCh38/hg38 5q23.2-23.3(chr5:126458947-128537986)x1 copy number loss See cases [RCV000052110] Chr5:126458947..128537986 [GRCh38]
Chr5:125794639..127873679 [GRCh37]
Chr5:125822538..127901578 [NCBI36]
Chr5:5q23.2-23.3
pathogenic
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 copy number loss See cases [RCV000053524] Chr5:106619588..156124387 [GRCh38]
Chr5:105955289..155551397 [GRCh37]
Chr5:105983188..155483975 [NCBI36]
Chr5:5q21.3-33.2
pathogenic
GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1 copy number loss See cases [RCV000053525] Chr5:116677122..132686163 [GRCh38]
Chr5:116012818..132021855 [GRCh37]
Chr5:116040717..132049754 [NCBI36]
Chr5:5q23.1-31.1
pathogenic
GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1 copy number loss See cases [RCV000139235] Chr5:110687442..130103838 [GRCh38]
Chr5:110023143..129439531 [GRCh37]
Chr5:110051042..129467430 [NCBI36]
Chr5:5q22.1-23.3
pathogenic|uncertain significance
GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1 copy number loss See cases [RCV000143746] Chr5:91411708..131319563 [GRCh38]
Chr5:90707525..130655256 [GRCh37]
Chr5:90743281..130683155 [NCBI36]
Chr5:5q14.3-31.1
pathogenic
GRCh37/hg19 5q23.3(chr5:127469912-127522256)x3 copy number gain Breast ductal adenocarcinoma [RCV000207210] Chr5:127469912..127522256 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.3076_3086del (p.Val1026fs) deletion Infant onset multiple organ failure [RCV000258036] Chr5:128178664..128178674 [GRCh38]
Chr5:127514356..127514366 [GRCh37]
Chr5:5q23.3
likely pathogenic
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3
likely benign
NC_000005.9:g.(?_86400000)_(154000000_?)del deletion Familial adenomatous polyposis 1 [RCV004561496]|Hereditary cancer-predisposing syndrome [RCV000554476] Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2
pathogenic
GRCh37/hg19 5q23.2-23.3(chr5:127139942-128012788)x3 copy number gain See cases [RCV000445732] Chr5:127139942..128012788 [GRCh37]
Chr5:5q23.2-23.3
uncertain significance
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3
pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_001046.3(SLC12A2):c.949A>G (p.Ile317Val) single nucleotide variant Inborn genetic diseases [RCV003305970] Chr5:128114284 [GRCh38]
Chr5:127449976 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.397G>C (p.Glu133Gln) single nucleotide variant not provided [RCV000678369] Chr5:128084351 [GRCh38]
Chr5:127420043 [GRCh37]
Chr5:5q23.3
uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
Single allele deletion Kilquist syndrome [RCV000754630] Chr5:127441491..127471419 [GRCh37]
Chr5:5q23.3
pathogenic
GRCh37/hg19 5q23.3(chr5:127314400-127449664)x3 copy number gain not provided [RCV000745163] Chr5:127314400..127449664 [GRCh37]
Chr5:5q23.3
benign
GRCh37/hg19 5q23.3(chr5:127395854-127420700)x1 copy number loss not provided [RCV000745169] Chr5:127395854..127420700 [GRCh37]
Chr5:5q23.3
benign
NM_001046.3(SLC12A2):c.3212+14A>C single nucleotide variant not provided [RCV001610260] Chr5:128181008 [GRCh38]
Chr5:127516700 [GRCh37]
Chr5:5q23.3
benign
GRCh37/hg19 5q23.2-31.2(chr5:126377719-136270989)x1 copy number loss not provided [RCV000762739] Chr5:126377719..136270989 [GRCh37]
Chr5:5q23.2-31.2
likely pathogenic
NM_001046.3(SLC12A2):c.3341A>C (p.His1114Pro) single nucleotide variant not provided [RCV003315029] Chr5:128184407 [GRCh38]
Chr5:127520099 [GRCh37]
Chr5:5q23.3
uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
NM_001046.3(SLC12A2):c.303G>A (p.Ala101=) single nucleotide variant not provided [RCV000946874] Chr5:128084257 [GRCh38]
Chr5:127419949 [GRCh37]
Chr5:5q23.3
benign|likely benign
NM_001046.3(SLC12A2):c.2930-2A>G single nucleotide variant Hearing loss [RCV000991282]|Hearing loss, autosomal dominant 78 [RCV001264769] Chr5:128177103 [GRCh38]
Chr5:127512795 [GRCh37]
Chr5:5q23.3
pathogenic|association
NM_001046.3(SLC12A2):c.2962C>A (p.Pro988Thr) single nucleotide variant Hearing loss [RCV000991283]|Hearing loss, autosomal dominant 78 [RCV001264770]|Kilquist syndrome [RCV004796338] Chr5:128177137 [GRCh38]
Chr5:127512829 [GRCh37]
Chr5:5q23.3
pathogenic|association|uncertain significance
GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3 copy number gain not provided [RCV000849289] Chr5:89949118..129317455 [GRCh37]
Chr5:5q14.3-23.3
pathogenic
NM_001046.3(SLC12A2):c.268G>C (p.Ala90Pro) single nucleotide variant not provided [RCV003233386] Chr5:128084222 [GRCh38]
Chr5:127419914 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2364-66A>G single nucleotide variant not provided [RCV001608334] Chr5:128157987 [GRCh38]
Chr5:127493679 [GRCh37]
Chr5:5q23.3
benign
NM_001046.3(SLC12A2):c.2723+221AC[6] microsatellite not provided [RCV001660827] Chr5:128168088..128168089 [GRCh38]
Chr5:127503780..127503781 [GRCh37]
Chr5:5q23.3
benign
NM_001046.3(SLC12A2):c.1048+208T>A single nucleotide variant not provided [RCV001708841] Chr5:128114889 [GRCh38]
Chr5:127450581 [GRCh37]
Chr5:5q23.3
benign
NM_001046.3(SLC12A2):c.2977+29A>C single nucleotide variant not provided [RCV001636282] Chr5:128177181 [GRCh38]
Chr5:127512873 [GRCh37]
Chr5:5q23.3
benign
NM_001046.3(SLC12A2):c.1622-104T>C single nucleotide variant not provided [RCV001685094] Chr5:128141726 [GRCh38]
Chr5:127477418 [GRCh37]
Chr5:5q23.3
benign
NM_001046.3(SLC12A2):c.*220C>T single nucleotide variant not provided [RCV001720643] Chr5:128186851 [GRCh38]
Chr5:127522543 [GRCh37]
Chr5:5q23.3
benign
NM_001046.3(SLC12A2):c.2263+172del deletion not provided [RCV001681520] Chr5:128151557 [GRCh38]
Chr5:127487249 [GRCh37]
Chr5:5q23.3
benign
NM_001046.3(SLC12A2):c.2723+222C>T single nucleotide variant not provided [RCV001639228] Chr5:128168089 [GRCh38]
Chr5:127503781 [GRCh37]
Chr5:5q23.3
benign
NM_001046.3(SLC12A2):c.2364-51G>A single nucleotide variant not provided [RCV001686419] Chr5:128158002 [GRCh38]
Chr5:127493694 [GRCh37]
Chr5:5q23.3
benign
NM_001046.3(SLC12A2):c.2804-115_2804-113del microsatellite not provided [RCV001670180] Chr5:128174423..128174425 [GRCh38]
Chr5:127510115..127510117 [GRCh37]
Chr5:5q23.3
benign
NM_001046.3(SLC12A2):c.2941G>T (p.Asp981Tyr) single nucleotide variant Hearing loss [RCV000991281]|Hearing loss, autosomal dominant 78 [RCV001264768] Chr5:128177116 [GRCh38]
Chr5:127512808 [GRCh37]
Chr5:5q23.3
pathogenic|association
NM_001046.3(SLC12A2):c.2935G>A (p.Glu979Lys) single nucleotide variant Hearing loss [RCV000991284]|Hearing loss, autosomal dominant 78 [RCV001264771] Chr5:128177110 [GRCh38]
Chr5:127512802 [GRCh37]
Chr5:5q23.3
pathogenic|association
NM_001046.3(SLC12A2):c.2803_2803+7delinsTCTTA indel not provided [RCV001562129] Chr5:128171746..128171753 [GRCh38]
Chr5:127507438..127507445 [GRCh37]
Chr5:5q23.3
uncertain significance
NC_000005.10:g.128083709CGC[6] microsatellite not provided [RCV001677725] Chr5:128083706..128083707 [GRCh38]
Chr5:127419398..127419399 [GRCh37]
Chr5:5q23.3
benign
NM_001046.3(SLC12A2):c.2723+220T>C single nucleotide variant not provided [RCV001609393] Chr5:128168087 [GRCh38]
Chr5:127503779 [GRCh37]
Chr5:5q23.3
benign
NM_001046.3(SLC12A2):c.2938G>A (p.Glu980Lys) single nucleotide variant Hearing loss, autosomal dominant 78 [RCV001264772] Chr5:128177113 [GRCh38]
Chr5:127512805 [GRCh37]
Chr5:5q23.3
pathogenic
NM_001046.3(SLC12A2):c.980C>T (p.Ala327Val) single nucleotide variant Delpire-McNeill syndrome [RCV001264773] Chr5:128114613 [GRCh38]
Chr5:127450305 [GRCh37]
Chr5:5q23.3
pathogenic
NM_001046.3(SLC12A2):c.1127A>T (p.Asn376Ile) single nucleotide variant Delpire-McNeill syndrome [RCV001264775] Chr5:128131145 [GRCh38]
Chr5:127466837 [GRCh37]
Chr5:5q23.3
pathogenic
NM_001046.3(SLC12A2):c.1189-136A>G single nucleotide variant not provided [RCV001684686] Chr5:128134029 [GRCh38]
Chr5:127469721 [GRCh37]
Chr5:5q23.3
benign
NM_001046.3(SLC12A2):c.2006-90C>T single nucleotide variant not provided [RCV001639411] Chr5:128149907 [GRCh38]
Chr5:127485599 [GRCh37]
Chr5:5q23.3
benign
NM_001046.3(SLC12A2):c.756+298T>C single nucleotide variant not provided [RCV001637965] Chr5:128085008 [GRCh38]
Chr5:127420700 [GRCh37]
Chr5:5q23.3
benign
NM_001046.3(SLC12A2):c.3100+55A>T single nucleotide variant not provided [RCV001649663] Chr5:128178744 [GRCh38]
Chr5:127514436 [GRCh37]
Chr5:5q23.3
benign
NM_001046.3(SLC12A2):c.1881+176A>G single nucleotide variant not provided [RCV001611150] Chr5:128147905 [GRCh38]
Chr5:127483597 [GRCh37]
Chr5:5q23.3
benign
NM_001046.3(SLC12A2):c.1191A>G (p.Glu397=) single nucleotide variant not provided [RCV001667252] Chr5:128134167 [GRCh38]
Chr5:127469859 [GRCh37]
Chr5:5q23.3
benign
NM_001046.3(SLC12A2):c.1881+181_1881+184dup duplication not provided [RCV001611154] Chr5:128147908..128147909 [GRCh38]
Chr5:127483600..127483601 [GRCh37]
Chr5:5q23.3
benign
NM_001046.3(SLC12A2):c.2962C>T (p.Pro988Ser) single nucleotide variant Sensorineural hearing loss disorder [RCV001249186]|not provided [RCV002570394] Chr5:128177137 [GRCh38]
Chr5:127512829 [GRCh37]
Chr5:5q23.3
pathogenic
NM_001046.3(SLC12A2):c.555dup (p.His186fs) duplication Delpire-McNeill syndrome [RCV001264776] Chr5:128084508..128084509 [GRCh38]
Chr5:127420200..127420201 [GRCh37]
Chr5:5q23.3
pathogenic
NM_001046.3(SLC12A2):c.2675G>A (p.Trp892Ter) single nucleotide variant Delpire-McNeill syndrome [RCV001264774] Chr5:128167819 [GRCh38]
Chr5:127503511 [GRCh37]
Chr5:5q23.3
pathogenic
NC_000005.9:g.127441491_127471419delinsATGAAAAGCTTTACAGAAGTTGGAATTAAAAAAA deletion Kilquist syndrome [RCV001264777] Chr5:127441491..127471419 [GRCh37]
Chr5:5q23.3
pathogenic
GRCh37/hg19 5q23.2-23.3(chr5:124997035-128900524)x1 copy number loss See cases [RCV002285063] Chr5:124997035..128900524 [GRCh37]
Chr5:5q23.2-23.3
pathogenic
NM_001046.3(SLC12A2):c.1145T>C (p.Met382Thr) single nucleotide variant not provided [RCV002284887] Chr5:128131163 [GRCh38]
Chr5:127466855 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1431del (p.Phe477fs) deletion Kilquist syndrome [RCV001264766] Chr5:128138617 [GRCh38]
Chr5:127474309 [GRCh37]
Chr5:5q23.3
pathogenic
NM_001046.3(SLC12A2):c.2006-1G>A single nucleotide variant Kilquist syndrome [RCV001264767] Chr5:128149996 [GRCh38]
Chr5:127485688 [GRCh37]
Chr5:5q23.3
pathogenic
NM_001046.3(SLC12A2):c.2016_2017insTAA (p.Val673Ter) insertion Profound global developmental delay [RCV001328480] Chr5:128150007..128150008 [GRCh38]
Chr5:127485699..127485700 [GRCh37]
Chr5:5q23.3
likely pathogenic
NM_001046.3(SLC12A2):c.1188+214A>T single nucleotide variant not provided [RCV001541490] Chr5:128131420 [GRCh38]
Chr5:127467112 [GRCh37]
Chr5:5q23.3
benign
NM_001046.3(SLC12A2):c.3213-242C>T single nucleotide variant not provided [RCV001614897] Chr5:128182613 [GRCh38]
Chr5:127518305 [GRCh37]
Chr5:5q23.3
benign
NM_001046.3(SLC12A2):c.1300-238G>A single nucleotide variant not provided [RCV001715134] Chr5:128135462 [GRCh38]
Chr5:127471154 [GRCh37]
Chr5:5q23.3
benign
NM_001046.3(SLC12A2):c.3504-23dup duplication not provided [RCV001669701] Chr5:128186461..128186462 [GRCh38]
Chr5:127522153..127522154 [GRCh37]
Chr5:5q23.3
benign
NM_001046.3(SLC12A2):c.1299+135G>A single nucleotide variant not provided [RCV001675238] Chr5:128134410 [GRCh38]
Chr5:127470102 [GRCh37]
Chr5:5q23.3
benign
NM_001046.3(SLC12A2):c.483G>C (p.Gly161=) single nucleotide variant not provided [RCV003108677] Chr5:128084437 [GRCh38]
Chr5:127420129 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.1059T>G (p.Tyr353Ter) single nucleotide variant See cases [RCV002252899] Chr5:128131077 [GRCh38]
Chr5:127466769 [GRCh37]
Chr5:5q23.3
likely pathogenic
NM_001046.3(SLC12A2):c.3436-1G>T single nucleotide variant not provided [RCV001758990] Chr5:128184788 [GRCh38]
Chr5:127520480 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2441dup (p.Asn814fs) duplication not provided [RCV001759037] Chr5:128158124..128158125 [GRCh38]
Chr5:127493816..127493817 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.953-7C>T single nucleotide variant Kilquist syndrome [RCV002478048]|not provided [RCV001816402] Chr5:128114579 [GRCh38]
Chr5:127450271 [GRCh37]
Chr5:5q23.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001046.3(SLC12A2):c.502A>G (p.Asn168Asp) single nucleotide variant not provided [RCV001777120] Chr5:128084456 [GRCh38]
Chr5:127420148 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.788A>C (p.Glu263Ala) single nucleotide variant Kilquist syndrome [RCV002503484]|not provided [RCV001888932] Chr5:128112845 [GRCh38]
Chr5:127448537 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.3532G>A (p.Val1178Met) single nucleotide variant not provided [RCV001950528] Chr5:128186524 [GRCh38]
Chr5:127522216 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.288GGC[11] (p.Ala104_Ala107dup) microsatellite Kilquist syndrome [RCV002484712]|not provided [RCV001967758] Chr5:128084239..128084240 [GRCh38]
Chr5:127419931..127419932 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.288GGC[10] (p.Ala105_Ala107dup) microsatellite Kilquist syndrome [RCV002482666]|not provided [RCV001871338] Chr5:128084239..128084240 [GRCh38]
Chr5:127419931..127419932 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1741C>T (p.Pro581Ser) single nucleotide variant Delpire-McNeill syndrome [RCV003458779]|not provided [RCV001864454] Chr5:128141949 [GRCh38]
Chr5:127477641 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.881G>A (p.Arg294His) single nucleotide variant Kilquist syndrome [RCV002486659]|not provided [RCV002004313] Chr5:128114216 [GRCh38]
Chr5:127449908 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2616+1547G>T single nucleotide variant Delpire-McNeill syndrome [RCV001839249] Chr5:128163347 [GRCh38]
Chr5:127499039 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.282TGC[3] (p.Ala107dup) microsatellite SLC12A2-related disorder [RCV004552083]|not provided [RCV001927497] Chr5:128084233..128084234 [GRCh38]
Chr5:127419925..127419926 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2975A>T (p.Lys992Ile) single nucleotide variant not provided [RCV001929306] Chr5:128177150 [GRCh38]
Chr5:127512842 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.761C>T (p.Pro254Leu) single nucleotide variant not provided [RCV001864217] Chr5:128112818 [GRCh38]
Chr5:127448510 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1127A>G (p.Asn376Ser) single nucleotide variant Kilquist syndrome [RCV002484894]|not provided [RCV002008099] Chr5:128131145 [GRCh38]
Chr5:127466837 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.309_317dup (p.Ala105_Ala107dup) duplication not provided [RCV002044305] Chr5:128084254..128084255 [GRCh38]
Chr5:127419946..127419947 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.41G>T (p.Gly14Val) single nucleotide variant Inborn genetic diseases [RCV002550342]|Kilquist syndrome [RCV002506912]|not provided [RCV001907848] Chr5:128083995 [GRCh38]
Chr5:127419687 [GRCh37]
Chr5:5q23.3
uncertain significance
GRCh37/hg19 5q23.2-23.3(chr5:127139942-128012788) copy number gain not specified [RCV002053523] Chr5:127139942..128012788 [GRCh37]
Chr5:5q23.2-23.3
uncertain significance
NM_001046.3(SLC12A2):c.2848G>A (p.Val950Met) single nucleotide variant Kilquist syndrome [RCV002492075]|not provided [RCV001985186] Chr5:128174585 [GRCh38]
Chr5:127510277 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2293C>G (p.Leu765Val) single nucleotide variant Kilquist syndrome [RCV002478318]|not provided [RCV001913252] Chr5:128152735 [GRCh38]
Chr5:127488427 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.3257T>C (p.Ile1086Thr) single nucleotide variant Intellectual disability [RCV001843745]|SLC12A2-related disorder [RCV004552048] Chr5:128182899 [GRCh38]
Chr5:127518591 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2210T>A (p.Leu737Gln) single nucleotide variant Kilquist syndrome [RCV002484878]|not provided [RCV002005346] Chr5:128151343 [GRCh38]
Chr5:127487035 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1207A>G (p.Ile403Val) single nucleotide variant not provided [RCV002019891] Chr5:128134183 [GRCh38]
Chr5:127469875 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.3200A>G (p.His1067Arg) single nucleotide variant not provided [RCV001940089] Chr5:128180982 [GRCh38]
Chr5:127516674 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.3139A>G (p.Lys1047Glu) single nucleotide variant not provided [RCV002038637] Chr5:128180921 [GRCh38]
Chr5:127516613 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.437C>T (p.Pro146Leu) single nucleotide variant not provided [RCV002027245] Chr5:128084391 [GRCh38]
Chr5:127420083 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1188+4A>G single nucleotide variant not provided [RCV001864947] Chr5:128131210 [GRCh38]
Chr5:127466902 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2511C>T (p.Ile837=) single nucleotide variant Kilquist syndrome [RCV002478119]|not provided [RCV001866813] Chr5:128161695 [GRCh38]
Chr5:127497387 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.1941A>G (p.Lys647=) single nucleotide variant Kilquist syndrome [RCV002491933]|not provided [RCV001921593] Chr5:128148813 [GRCh38]
Chr5:127484505 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.3521G>A (p.Arg1174Gln) single nucleotide variant not provided [RCV001993451] Chr5:128186513 [GRCh38]
Chr5:127522205 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2639A>G (p.Lys880Arg) single nucleotide variant not provided [RCV001992325] Chr5:128167783 [GRCh38]
Chr5:127503475 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2474T>C (p.Met825Thr) single nucleotide variant not provided [RCV001982402] Chr5:128158163 [GRCh38]
Chr5:127493855 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.297_320del (p.Ala100_Ala107del) deletion not provided [RCV001898182] Chr5:128084240..128084263 [GRCh38]
Chr5:127419932..127419955 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1777A>C (p.Met593Leu) single nucleotide variant not provided [RCV001876896] Chr5:128147625 [GRCh38]
Chr5:127483317 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2512G>A (p.Asp838Asn) single nucleotide variant not provided [RCV001900077] Chr5:128161696 [GRCh38]
Chr5:127497388 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2576A>G (p.His859Arg) single nucleotide variant not provided [RCV001961147] Chr5:128161760 [GRCh38]
Chr5:127497452 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.235A>C (p.Ser79Arg) single nucleotide variant Inborn genetic diseases [RCV004046667]|Kilquist syndrome [RCV002486687]|not provided [RCV002011691] Chr5:128084189 [GRCh38]
Chr5:127419881 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2929+19A>G single nucleotide variant not provided [RCV001977682] Chr5:128174685 [GRCh38]
Chr5:127510377 [GRCh37]
Chr5:5q23.3
likely benign|uncertain significance
NC_000005.9:g.(?_125880657)_(127873296_?)dup duplication Pyridoxine-dependent epilepsy [RCV002016776] Chr5:125880657..127873296 [GRCh37]
Chr5:5q23.2-23.3
uncertain significance
NM_001046.3(SLC12A2):c.3622C>G (p.Leu1208Val) single nucleotide variant Kilquist syndrome [RCV002482589]|not provided [RCV001900438] Chr5:128186614 [GRCh38]
Chr5:127522306 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.3100+20T>A single nucleotide variant Kilquist syndrome [RCV002494492]|not provided [RCV002166171] Chr5:128178709 [GRCh38]
Chr5:127514401 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.2804-4A>G single nucleotide variant not provided [RCV002166444] Chr5:128174537 [GRCh38]
Chr5:127510229 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.3570A>G (p.Leu1190=) single nucleotide variant not provided [RCV002110449] Chr5:128186562 [GRCh38]
Chr5:127522254 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.692C>T (p.Ala231Val) single nucleotide variant Inborn genetic diseases [RCV003355810]|not provided [RCV002105859] Chr5:128084646 [GRCh38]
Chr5:127420338 [GRCh37]
Chr5:5q23.3
likely benign|uncertain significance
NM_001046.3(SLC12A2):c.1125C>G (p.Ala375=) single nucleotide variant not provided [RCV002106667] Chr5:128131143 [GRCh38]
Chr5:127466835 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.2748A>T (p.Gly916=) single nucleotide variant Kilquist syndrome [RCV002480986]|not provided [RCV002125341] Chr5:128171691 [GRCh38]
Chr5:127507383 [GRCh37]
Chr5:5q23.3
benign|likely benign
NM_001046.3(SLC12A2):c.2766A>G (p.Leu922=) single nucleotide variant not provided [RCV002187425] Chr5:128171709 [GRCh38]
Chr5:127507401 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.2271T>C (p.Asn757=) single nucleotide variant not provided [RCV002168875] Chr5:128152713 [GRCh38]
Chr5:127488405 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.288GGC[5] (p.Ala106_Ala107del) microsatellite Inborn genetic diseases [RCV003025395]|not provided [RCV002108223] Chr5:128084240..128084245 [GRCh38]
Chr5:127419932..127419937 [GRCh37]
Chr5:5q23.3
benign
NM_001046.3(SLC12A2):c.309_320del (p.Ala104_Ala107del) deletion Inborn genetic diseases [RCV004045626]|SLC12A2-related disorder [RCV004553681]|not provided [RCV002205605] Chr5:128084252..128084263 [GRCh38]
Chr5:127419944..127419955 [GRCh37]
Chr5:5q23.3
benign|likely benign
NM_001046.3(SLC12A2):c.2322A>C (p.Ser774=) single nucleotide variant Kilquist syndrome [RCV002494009]|not provided [RCV002087522] Chr5:128152764 [GRCh38]
Chr5:127488456 [GRCh37]
Chr5:5q23.3
benign|likely benign
NM_001046.3(SLC12A2):c.957A>G (p.Leu319=) single nucleotide variant not provided [RCV002171613] Chr5:128114590 [GRCh38]
Chr5:127450282 [GRCh37]
Chr5:5q23.3
benign
NM_001046.3(SLC12A2):c.2380A>G (p.Met794Val) single nucleotide variant not provided [RCV002094937] Chr5:128158069 [GRCh38]
Chr5:127493761 [GRCh37]
Chr5:5q23.3
benign
NM_001046.3(SLC12A2):c.156C>G (p.Asp52Glu) single nucleotide variant not provided [RCV002132037] Chr5:128084110 [GRCh38]
Chr5:127419802 [GRCh37]
Chr5:5q23.3
benign
NM_001046.3(SLC12A2):c.489A>T (p.Gly163=) single nucleotide variant not provided [RCV002174341] Chr5:128084443 [GRCh38]
Chr5:127420135 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.562GGC[6] (p.Gly192dup) microsatellite not provided [RCV002196393] Chr5:128084514..128084515 [GRCh38]
Chr5:127420206..127420207 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.303_320del (p.Ala102_Ala107del) deletion not provided [RCV002111864] Chr5:128084246..128084263 [GRCh38]
Chr5:127419938..127419955 [GRCh37]
Chr5:5q23.3
benign
NM_001046.3(SLC12A2):c.627C>T (p.Tyr209=) single nucleotide variant not provided [RCV002212487] Chr5:128084581 [GRCh38]
Chr5:127420273 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.524G>C (p.Gly175Ala) single nucleotide variant Kilquist syndrome [RCV002500036]|not provided [RCV002132332] Chr5:128084478 [GRCh38]
Chr5:127420170 [GRCh37]
Chr5:5q23.3
benign|likely benign
NM_001046.3(SLC12A2):c.2005+9T>C single nucleotide variant Kilquist syndrome [RCV002494332]|not provided [RCV002078963] Chr5:128148886 [GRCh38]
Chr5:127484578 [GRCh37]
Chr5:5q23.3
benign
NM_001046.3(SLC12A2):c.3468A>G (p.Leu1156=) single nucleotide variant Kilquist syndrome [RCV002486889]|SLC12A2-related disorder [RCV004553741]|not provided [RCV002117408] Chr5:128184821 [GRCh38]
Chr5:127520513 [GRCh37]
Chr5:5q23.3
benign|likely benign
NM_001046.3(SLC12A2):c.2052A>G (p.Ala684=) single nucleotide variant not provided [RCV002208344] Chr5:128150043 [GRCh38]
Chr5:127485735 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.147G>T (p.Ala49=) single nucleotide variant not provided [RCV002133886] Chr5:128084101 [GRCh38]
Chr5:127419793 [GRCh37]
Chr5:5q23.3
benign
NM_001046.3(SLC12A2):c.288GGC[8] (p.Ala107dup) microsatellite Inborn genetic diseases [RCV002553716]|not provided [RCV002196835] Chr5:128084239..128084240 [GRCh38]
Chr5:127419931..127419932 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.3100+13A>T single nucleotide variant Kilquist syndrome [RCV002494460]|not provided [RCV002148644] Chr5:128178702 [GRCh38]
Chr5:127514394 [GRCh37]
Chr5:5q23.3
benign|likely benign
NM_001046.3(SLC12A2):c.261C>T (p.Ser87=) single nucleotide variant Kilquist syndrome [RCV002494005]|SLC12A2-related disorder [RCV004553643]|not provided [RCV002099848] Chr5:128084215 [GRCh38]
Chr5:127419907 [GRCh37]
Chr5:5q23.3
benign|likely benign
NM_001046.3(SLC12A2):c.2469A>G (p.Val823=) single nucleotide variant not provided [RCV002218601] Chr5:128158158 [GRCh38]
Chr5:127493850 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.1348G>A (p.Val450Ile) single nucleotide variant not provided [RCV002082295] Chr5:128135748 [GRCh38]
Chr5:127471440 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.1537-15C>T single nucleotide variant not provided [RCV002204779] Chr5:128138809 [GRCh38]
Chr5:127474501 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.2475+11A>G single nucleotide variant Kilquist syndrome [RCV002498120]|not provided [RCV002176701] Chr5:128158175 [GRCh38]
Chr5:127493867 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.2493C>A (p.Ala831=) single nucleotide variant Kilquist syndrome [RCV002500412]|not provided [RCV002184267] Chr5:128161677 [GRCh38]
Chr5:127497369 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.1773+15T>C single nucleotide variant Kilquist syndrome [RCV002494412]|not provided [RCV002119136] Chr5:128141996 [GRCh38]
Chr5:127477688 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.1128C>T (p.Asn376=) single nucleotide variant Kilquist syndrome [RCV002500096]|not provided [RCV002155636] Chr5:128131146 [GRCh38]
Chr5:127466838 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.1409-11G>A single nucleotide variant not provided [RCV002199475] Chr5:128138586 [GRCh38]
Chr5:127474278 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.2930-19T>G single nucleotide variant not provided [RCV002218467] Chr5:128177086 [GRCh38]
Chr5:127512778 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.159C>T (p.Gly53=) single nucleotide variant not provided [RCV002218760] Chr5:128084113 [GRCh38]
Chr5:127419805 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.3035G>A (p.Ser1012Asn) single nucleotide variant not provided [RCV002219206] Chr5:128178624 [GRCh38]
Chr5:127514316 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.1188+14C>T single nucleotide variant not provided [RCV002161900] Chr5:128131220 [GRCh38]
Chr5:127466912 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.876+17_876+18del deletion Kilquist syndrome [RCV002494487]|not provided [RCV002158576] Chr5:128112950..128112951 [GRCh38]
Chr5:127448642..127448643 [GRCh37]
Chr5:5q23.3
benign|likely benign
NM_001046.3(SLC12A2):c.2915C>G (p.Pro972Arg) single nucleotide variant Inborn genetic diseases [RCV003303689]|not provided [RCV002082460] Chr5:128174652 [GRCh38]
Chr5:127510344 [GRCh37]
Chr5:5q23.3
likely benign|uncertain significance
NM_001046.3(SLC12A2):c.877-16C>G single nucleotide variant Kilquist syndrome [RCV002494000]|not provided [RCV002099403] Chr5:128114196 [GRCh38]
Chr5:127449888 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.839A>G (p.Lys280Arg) single nucleotide variant Inborn genetic diseases [RCV003093831]|not provided [RCV002199140] Chr5:128112896 [GRCh38]
Chr5:127448588 [GRCh37]
Chr5:5q23.3
likely benign|uncertain significance
NM_001046.3(SLC12A2):c.102G>A (p.Leu34=) single nucleotide variant Kilquist syndrome [RCV002486984]|not provided [RCV002180961] Chr5:128084056 [GRCh38]
Chr5:127419748 [GRCh37]
Chr5:5q23.3
benign|likely benign
NM_001046.3(SLC12A2):c.2476G>A (p.Gly826Ser) single nucleotide variant not provided [RCV002203281] Chr5:128161660 [GRCh38]
Chr5:127497352 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.495C>T (p.Asp165=) single nucleotide variant Kilquist syndrome [RCV002496098]|not provided [RCV002183573] Chr5:128084449 [GRCh38]
Chr5:127420141 [GRCh37]
Chr5:5q23.3
benign|likely benign
NM_001046.3(SLC12A2):c.2617-9A>G single nucleotide variant not provided [RCV002141053] Chr5:128167752 [GRCh38]
Chr5:127503444 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.2107+11A>G single nucleotide variant Kilquist syndrome [RCV002481016]|not provided [RCV002176377] Chr5:128150109 [GRCh38]
Chr5:127485801 [GRCh37]
Chr5:5q23.3
benign|likely benign
NM_001046.3(SLC12A2):c.614C>T (p.Thr205Ile) single nucleotide variant not provided [RCV002099298] Chr5:128084568 [GRCh38]
Chr5:127420260 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.887_890del (p.Met296fs) deletion not provided [RCV003110029] Chr5:128114222..128114225 [GRCh38]
Chr5:127449914..127449917 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2880C>T (p.Ser960=) single nucleotide variant not provided [RCV003119061] Chr5:128174617 [GRCh38]
Chr5:127510309 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.672C>G (p.Ile224Met) single nucleotide variant not provided [RCV003120247]|not specified [RCV004526972] Chr5:128084626 [GRCh38]
Chr5:127420318 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2798G>A (p.Gly933Glu) single nucleotide variant not provided [RCV004787327] Chr5:128171741 [GRCh38]
Chr5:127507433 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.509G>C (p.Ser170Thr) single nucleotide variant not provided [RCV004778919] Chr5:128084463 [GRCh38]
Chr5:127420155 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1408+2T>G single nucleotide variant not provided [RCV004786052] Chr5:128135810 [GRCh38]
Chr5:127471502 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1226T>C (p.Ile409Thr) single nucleotide variant Kilquist syndrome [RCV002227768] Chr5:128134202 [GRCh38]
Chr5:127469894 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.3566C>T (p.Ala1189Val) single nucleotide variant Kilquist syndrome [RCV002227735]|not provided [RCV003093902] Chr5:128186558 [GRCh38]
Chr5:127522250 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1279G>T (p.Gly427Ter) single nucleotide variant SLC12A2-related disorder [RCV003230945] Chr5:128134255 [GRCh38]
Chr5:127469947 [GRCh37]
Chr5:5q23.3
likely pathogenic
NM_001046.3(SLC12A2):c.716T>A (p.Leu239His) single nucleotide variant not provided [RCV002286266] Chr5:128084670 [GRCh38]
Chr5:127420362 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2977+5G>C single nucleotide variant not provided [RCV003236034] Chr5:128177157 [GRCh38]
Chr5:127512849 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2387G>A (p.Gly796Asp) single nucleotide variant not provided [RCV002293125] Chr5:128158076 [GRCh38]
Chr5:127493768 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1076G>A (p.Ser359Asn) single nucleotide variant Delpire-McNeill syndrome [RCV002289502]|not provided [RCV003319513] Chr5:128131094 [GRCh38]
Chr5:127466786 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2476-1G>C single nucleotide variant Delpire-McNeill syndrome [RCV002282781] Chr5:128161659 [GRCh38]
Chr5:127497351 [GRCh37]
Chr5:5q23.3
likely pathogenic
NM_001046.3(SLC12A2):c.1909G>T (p.Ala637Ser) single nucleotide variant Inborn genetic diseases [RCV003279844] Chr5:128148781 [GRCh38]
Chr5:127484473 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1450G>C (p.Glu484Gln) single nucleotide variant Inborn genetic diseases [RCV003285946] Chr5:128138638 [GRCh38]
Chr5:127474330 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2959C>G (p.Gln987Glu) single nucleotide variant See cases [RCV003151952] Chr5:128177134 [GRCh38]
Chr5:127512826 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.476C>T (p.Ala159Val) single nucleotide variant Kilquist syndrome [RCV004725527]|not provided [RCV003095350] Chr5:128084430 [GRCh38]
Chr5:127420122 [GRCh37]
Chr5:5q23.3
likely benign|uncertain significance
NM_001046.3(SLC12A2):c.80_103del (p.Leu27_Leu34del) deletion not provided [RCV002481188] Chr5:128084032..128084055 [GRCh38]
Chr5:127419724..127419747 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1348G>T (p.Val450Phe) single nucleotide variant Inborn genetic diseases [RCV002841586] Chr5:128135748 [GRCh38]
Chr5:127471440 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2465A>G (p.His822Arg) single nucleotide variant Inborn genetic diseases [RCV002687925]|not provided [RCV003111653] Chr5:128158154 [GRCh38]
Chr5:127493846 [GRCh37]
Chr5:5q23.3
uncertain significance
GRCh37/hg19 5q22.2-23.3(chr5:112557391-128106299)x1 copy number loss not provided [RCV002475732] Chr5:112557391..128106299 [GRCh37]
Chr5:5q22.2-23.3
pathogenic
NM_001046.3(SLC12A2):c.953-5T>C single nucleotide variant Inborn genetic diseases [RCV002865800] Chr5:128114581 [GRCh38]
Chr5:127450273 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.3134C>T (p.Thr1045Ile) single nucleotide variant Inborn genetic diseases [RCV002863997]|Kilquist syndrome [RCV004725597] Chr5:128180916 [GRCh38]
Chr5:127516608 [GRCh37]
Chr5:5q23.3
likely benign|uncertain significance
NM_001046.3(SLC12A2):c.1668C>T (p.Ile556=) single nucleotide variant not provided [RCV002975352] Chr5:128141876 [GRCh38]
Chr5:127477568 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.3141A>G (p.Lys1047=) single nucleotide variant not provided [RCV002756705] Chr5:128180923 [GRCh38]
Chr5:127516615 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.18G>C (p.Thr6=) single nucleotide variant SLC12A2-related disorder [RCV004738663]|not provided [RCV003076949] Chr5:128083972 [GRCh38]
Chr5:127419664 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.1576A>G (p.Ile526Val) single nucleotide variant not provided [RCV002947266] Chr5:128138863 [GRCh38]
Chr5:127474555 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2107+9A>C single nucleotide variant not provided [RCV002967633] Chr5:128150107 [GRCh38]
Chr5:127485799 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.3390A>G (p.Glu1130=) single nucleotide variant not provided [RCV002614432] Chr5:128184456 [GRCh38]
Chr5:127520148 [GRCh37]
Chr5:5q23.3
benign
NM_001046.3(SLC12A2):c.2897A>T (p.Lys966Ile) single nucleotide variant Inborn genetic diseases [RCV002903940]|not provided [RCV002903939] Chr5:128174634 [GRCh38]
Chr5:127510326 [GRCh37]
Chr5:5q23.3
benign|uncertain significance
NM_001046.3(SLC12A2):c.994A>G (p.Thr332Ala) single nucleotide variant not provided [RCV002771382] Chr5:128114627 [GRCh38]
Chr5:127450319 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.860G>A (p.Trp287Ter) single nucleotide variant not provided [RCV002511331] Chr5:128112917 [GRCh38]
Chr5:127448609 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2521A>G (p.Lys841Glu) single nucleotide variant not provided [RCV002863350] Chr5:128161705 [GRCh38]
Chr5:127497397 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.3485C>T (p.Thr1162Ile) single nucleotide variant Inborn genetic diseases [RCV002773783] Chr5:128184838 [GRCh38]
Chr5:127520530 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.407A>G (p.Lys136Arg) single nucleotide variant not provided [RCV002685597] Chr5:128084361 [GRCh38]
Chr5:127420053 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.177G>T (p.Glu59Asp) single nucleotide variant not provided [RCV002904008] Chr5:128084131 [GRCh38]
Chr5:127419823 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.653T>G (p.Met218Arg) single nucleotide variant See cases [RCV003128530] Chr5:128084607 [GRCh38]
Chr5:127420299 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.309A>G (p.Ala103=) single nucleotide variant not provided [RCV003076714] Chr5:128084263 [GRCh38]
Chr5:127419955 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.1641T>G (p.Asp547Glu) single nucleotide variant not provided [RCV002617988] Chr5:128141849 [GRCh38]
Chr5:127477541 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.179G>T (p.Gly60Val) single nucleotide variant Inborn genetic diseases [RCV002859530] Chr5:128084133 [GRCh38]
Chr5:127419825 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.864C>T (p.Ile288=) single nucleotide variant not provided [RCV002974926] Chr5:128112921 [GRCh38]
Chr5:127448613 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.596A>G (p.Tyr199Cys) single nucleotide variant not provided [RCV002948730] Chr5:128084550 [GRCh38]
Chr5:127420242 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.190G>A (p.Ala64Thr) single nucleotide variant not provided [RCV002871003] Chr5:128084144 [GRCh38]
Chr5:127419836 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.534G>C (p.Val178=) single nucleotide variant not provided [RCV002909735] Chr5:128084488 [GRCh38]
Chr5:127420180 [GRCh37]
Chr5:5q23.3
benign
NM_001046.3(SLC12A2):c.3592C>A (p.Leu1198Ile) single nucleotide variant not provided [RCV002705270] Chr5:128186584 [GRCh38]
Chr5:127522276 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1718A>G (p.Asp573Gly) single nucleotide variant not provided [RCV002825290] Chr5:128141926 [GRCh38]
Chr5:127477618 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1216A>C (p.Ile406Leu) single nucleotide variant not provided [RCV002636372] Chr5:128134192 [GRCh38]
Chr5:127469884 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.3205C>T (p.Arg1069Trp) single nucleotide variant not provided [RCV003037709] Chr5:128180987 [GRCh38]
Chr5:127516679 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.975G>C (p.Met325Ile) single nucleotide variant not provided [RCV002695979] Chr5:128114608 [GRCh38]
Chr5:127450300 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.297_320dup (p.Ala107_Gly108insAlaAlaAlaAlaAlaAlaAlaAla) duplication not provided [RCV002621419] Chr5:128084239..128084240 [GRCh38]
Chr5:127419931..127419932 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2323A>G (p.Ile775Val) single nucleotide variant not provided [RCV002705455] Chr5:128152765 [GRCh38]
Chr5:127488457 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.459A>G (p.Glu153=) single nucleotide variant not provided [RCV002780423] Chr5:128084413 [GRCh38]
Chr5:127420105 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.500C>G (p.Pro167Arg) single nucleotide variant Inborn genetic diseases [RCV002737773] Chr5:128084454 [GRCh38]
Chr5:127420146 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2185G>A (p.Val729Ile) single nucleotide variant not provided [RCV002885774] Chr5:128151318 [GRCh38]
Chr5:127487010 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2217T>C (p.Tyr739=) single nucleotide variant not provided [RCV002909736] Chr5:128151350 [GRCh38]
Chr5:127487042 [GRCh37]
Chr5:5q23.3
benign
NM_001046.3(SLC12A2):c.243C>T (p.Phe81=) single nucleotide variant not provided [RCV002846911] Chr5:128084197 [GRCh38]
Chr5:127419889 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.757-19T>C single nucleotide variant not provided [RCV002736830] Chr5:128112795 [GRCh38]
Chr5:127448487 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.317C>A (p.Ala106Glu) single nucleotide variant Inborn genetic diseases [RCV002797555]|not provided [RCV003546886] Chr5:128084271 [GRCh38]
Chr5:127419963 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.99A>G (p.Glu33=) single nucleotide variant not provided [RCV002927631] Chr5:128084053 [GRCh38]
Chr5:127419745 [GRCh37]
Chr5:5q23.3
benign
NM_001046.3(SLC12A2):c.1048+12C>A single nucleotide variant not provided [RCV002846151] Chr5:128114693 [GRCh38]
Chr5:127450385 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.1670T>C (p.Val557Ala) single nucleotide variant not provided [RCV003053733] Chr5:128141878 [GRCh38]
Chr5:127477570 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2792T>C (p.Leu931Pro) single nucleotide variant not provided [RCV002846407] Chr5:128171735 [GRCh38]
Chr5:127507427 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.3470A>C (p.Lys1157Thr) single nucleotide variant not provided [RCV002846408] Chr5:128184823 [GRCh38]
Chr5:127520515 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1408+7A>G single nucleotide variant not provided [RCV002639122] Chr5:128135815 [GRCh38]
Chr5:127471507 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.288GGC[6] (p.Ala107del) microsatellite SLC12A2-related disorder [RCV004548389]|not provided [RCV002913151] Chr5:128084240..128084242 [GRCh38]
Chr5:127419932..127419934 [GRCh37]
Chr5:5q23.3
likely benign|uncertain significance
NM_001046.3(SLC12A2):c.294G>A (p.Ala98=) single nucleotide variant not provided [RCV002923625] Chr5:128084248 [GRCh38]
Chr5:127419940 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.2086G>A (p.Ala696Thr) single nucleotide variant Inborn genetic diseases [RCV002821350] Chr5:128150077 [GRCh38]
Chr5:127485769 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1431T>A (p.Phe477Leu) single nucleotide variant not provided [RCV003079204] Chr5:128138619 [GRCh38]
Chr5:127474311 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.3421C>A (p.Leu1141Ile) single nucleotide variant not provided [RCV003079502] Chr5:128184487 [GRCh38]
Chr5:127520179 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.391G>A (p.Gly131Ser) single nucleotide variant not provided [RCV003002454] Chr5:128084345 [GRCh38]
Chr5:127420037 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.1267A>T (p.Ile423Phe) single nucleotide variant Inborn genetic diseases [RCV002707295] Chr5:128134243 [GRCh38]
Chr5:127469935 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1527T>C (p.Gly509=) single nucleotide variant not provided [RCV002820892] Chr5:128138715 [GRCh38]
Chr5:127474407 [GRCh37]
Chr5:5q23.3
likely benign|uncertain significance
NM_001046.3(SLC12A2):c.1355G>C (p.Gly452Ala) single nucleotide variant Inborn genetic diseases [RCV002919281] Chr5:128135755 [GRCh38]
Chr5:127471447 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.382C>T (p.Pro128Ser) single nucleotide variant not provided [RCV002985684] Chr5:128084336 [GRCh38]
Chr5:127420028 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2723+14T>A single nucleotide variant not provided [RCV002663411] Chr5:128167881 [GRCh38]
Chr5:127503573 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.285_290del (p.Ala106_Ala107del) deletion not provided [RCV002876144] Chr5:128084237..128084242 [GRCh38]
Chr5:127419929..127419934 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.3312del (p.Phe1104fs) deletion Inborn genetic diseases [RCV002957932]|not provided [RCV002957931] Chr5:128184375 [GRCh38]
Chr5:127520067 [GRCh37]
Chr5:5q23.3
pathogenic
NM_001046.3(SLC12A2):c.744C>G (p.Asp248Glu) single nucleotide variant Inborn genetic diseases [RCV002595263]|not provided [RCV002610525] Chr5:128084698 [GRCh38]
Chr5:127420390 [GRCh37]
Chr5:5q23.3
likely benign|uncertain significance
NM_001046.3(SLC12A2):c.1774-2del deletion not provided [RCV003058965] Chr5:128147619 [GRCh38]
Chr5:127483311 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1421A>T (p.Asn474Ile) single nucleotide variant not provided [RCV002596034] Chr5:128138609 [GRCh38]
Chr5:127474301 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1258C>G (p.Leu420Val) single nucleotide variant Inborn genetic diseases [RCV002701794] Chr5:128134234 [GRCh38]
Chr5:127469926 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.249G>A (p.Val83=) single nucleotide variant not provided [RCV002593807] Chr5:128084203 [GRCh38]
Chr5:127419895 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.1204A>G (p.Met402Val) single nucleotide variant Inborn genetic diseases [RCV002955877] Chr5:128134180 [GRCh38]
Chr5:127469872 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2718A>C (p.Leu906Phe) single nucleotide variant not provided [RCV002595568] Chr5:128167862 [GRCh38]
Chr5:127503554 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.347C>G (p.Thr116Ser) single nucleotide variant not provided [RCV003022539] Chr5:128084301 [GRCh38]
Chr5:127419993 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.288G>T (p.Ala96=) single nucleotide variant not provided [RCV002890824] Chr5:128084242 [GRCh38]
Chr5:127419934 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.1300-16A>G single nucleotide variant not provided [RCV002786518] Chr5:128135684 [GRCh38]
Chr5:127471376 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.1622-14C>T single nucleotide variant not provided [RCV002573117] Chr5:128141816 [GRCh38]
Chr5:127477508 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.772G>T (p.Gly258Cys) single nucleotide variant not provided [RCV002850912] Chr5:128112829 [GRCh38]
Chr5:127448521 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2371_2372insTAAATTAGGCCACT (p.Cys791delinsLeuAsnTer) insertion not provided [RCV003056416] Chr5:128158059..128158060 [GRCh38]
Chr5:127493751..127493752 [GRCh37]
Chr5:5q23.3
pathogenic
NM_001046.3(SLC12A2):c.288GGC[9] (p.Ala107_Gly108insAlaAla) microsatellite not provided [RCV002918977] Chr5:128084239..128084240 [GRCh38]
Chr5:127419931..127419932 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1255A>G (p.Ile419Val) single nucleotide variant Inborn genetic diseases [RCV002987327] Chr5:128134231 [GRCh38]
Chr5:127469923 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.777T>C (p.Phe259=) single nucleotide variant not provided [RCV003041062] Chr5:128112834 [GRCh38]
Chr5:127448526 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.52G>T (p.Val18Phe) single nucleotide variant Inborn genetic diseases [RCV003269445]|not provided [RCV003084270] Chr5:128084006 [GRCh38]
Chr5:127419698 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.243C>G (p.Phe81Leu) single nucleotide variant Inborn genetic diseases [RCV002764546] Chr5:128084197 [GRCh38]
Chr5:127419889 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.376A>T (p.Ser126Cys) single nucleotide variant Inborn genetic diseases [RCV003090828]|not provided [RCV003084048] Chr5:128084330 [GRCh38]
Chr5:127420022 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.3046C>A (p.Gln1016Lys) single nucleotide variant not provided [RCV002644248] Chr5:128178635 [GRCh38]
Chr5:127514327 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.953-20G>A single nucleotide variant not provided [RCV002572868] Chr5:128114566 [GRCh38]
Chr5:127450258 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.1453_1454insGGCCCGATTTCG (p.Glu484_Glu485insGlyProAspPhe) insertion not provided [RCV002851776] Chr5:128138640..128138641 [GRCh38]
Chr5:127474332..127474333 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.3197A>G (p.Asp1066Gly) single nucleotide variant Inborn genetic diseases [RCV002710051] Chr5:128180979 [GRCh38]
Chr5:127516671 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.145G>C (p.Ala49Pro) single nucleotide variant not provided [RCV002851160] Chr5:128084099 [GRCh38]
Chr5:127419791 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1144A>C (p.Met382Leu) single nucleotide variant not provided [RCV003006389] Chr5:128131162 [GRCh38]
Chr5:127466854 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2127A>G (p.Lys709=) single nucleotide variant not provided [RCV002711956] Chr5:128151260 [GRCh38]
Chr5:127486952 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.285T>G (p.Ala95=) single nucleotide variant not provided [RCV002962984] Chr5:128084239 [GRCh38]
Chr5:127419931 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.727C>T (p.Leu243=) single nucleotide variant not provided [RCV002628192] Chr5:128084681 [GRCh38]
Chr5:127420373 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.309_320dup (p.Ala107_Gly108insAlaAlaAlaAla) duplication not provided [RCV002966787] Chr5:128084251..128084252 [GRCh38]
Chr5:127419943..127419944 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.991A>G (p.Thr331Ala) single nucleotide variant not provided [RCV002806908] Chr5:128114624 [GRCh38]
Chr5:127450316 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2663T>G (p.Phe888Cys) single nucleotide variant not provided [RCV002856845] Chr5:128167807 [GRCh38]
Chr5:127503499 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.3115A>G (p.Ile1039Val) single nucleotide variant not provided [RCV003043930] Chr5:128180897 [GRCh38]
Chr5:127516589 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.562GGC[7] (p.Gly192_Ser193insGlyGly) microsatellite not provided [RCV003009411] Chr5:128084514..128084515 [GRCh38]
Chr5:127420206..127420207 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1408+17C>A single nucleotide variant not provided [RCV003009441] Chr5:128135825 [GRCh38]
Chr5:127471517 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.3163A>G (p.Arg1055Gly) single nucleotide variant not provided [RCV002628033] Chr5:128180945 [GRCh38]
Chr5:127516637 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.279C>T (p.Ala93=) single nucleotide variant not provided [RCV003029133] Chr5:128084233 [GRCh38]
Chr5:127419925 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.214T>A (p.Leu72Met) single nucleotide variant not provided [RCV002791616] Chr5:128084168 [GRCh38]
Chr5:127419860 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.200G>A (p.Gly67Glu) single nucleotide variant not provided [RCV002646862] Chr5:128084154 [GRCh38]
Chr5:127419846 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.3212+16A>G single nucleotide variant not provided [RCV002630175] Chr5:128181010 [GRCh38]
Chr5:127516702 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.3081G>C (p.Trp1027Cys) single nucleotide variant Inborn genetic diseases [RCV002747083] Chr5:128178670 [GRCh38]
Chr5:127514362 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.137C>T (p.Ala46Val) single nucleotide variant not provided [RCV002597706] Chr5:128084091 [GRCh38]
Chr5:127419783 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.127C>G (p.Pro43Ala) single nucleotide variant not provided [RCV002856136] Chr5:128084081 [GRCh38]
Chr5:127419773 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2894C>A (p.Ser965Tyr) single nucleotide variant Inborn genetic diseases [RCV004066753]|Kilquist syndrome [RCV003992677]|not provided [RCV002675723] Chr5:128174631 [GRCh38]
Chr5:127510323 [GRCh37]
Chr5:5q23.3
conflicting interpretations of pathogenicity|uncertain significance
NM_001046.3(SLC12A2):c.439G>A (p.Ala147Thr) single nucleotide variant Inborn genetic diseases [RCV004064523]|not provided [RCV002578030] Chr5:128084393 [GRCh38]
Chr5:127420085 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2715C>G (p.Asn905Lys) single nucleotide variant Inborn genetic diseases [RCV002673494] Chr5:128167859 [GRCh38]
Chr5:127503551 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.478G>A (p.Ala160Thr) single nucleotide variant not provided [RCV002715641] Chr5:128084432 [GRCh38]
Chr5:127420124 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.3244G>A (p.Asp1082Asn) single nucleotide variant not provided [RCV003061902] Chr5:128182886 [GRCh38]
Chr5:127518578 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.577A>G (p.Ser193Gly) single nucleotide variant not provided [RCV003029360] Chr5:128084531 [GRCh38]
Chr5:127420223 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.288GGC[4] (p.Ala105_Ala107del) microsatellite not provided [RCV002988701] Chr5:128084240..128084248 [GRCh38]
Chr5:127419932..127419940 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2264-19G>A single nucleotide variant not provided [RCV002746616] Chr5:128152687 [GRCh38]
Chr5:127488379 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.2599G>A (p.Ala867Thr) single nucleotide variant not provided [RCV002597751] Chr5:128161783 [GRCh38]
Chr5:127497475 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.356A>G (p.Asp119Gly) single nucleotide variant Inborn genetic diseases [RCV002627723]|not provided [RCV002653377] Chr5:128084310 [GRCh38]
Chr5:127420002 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2761C>T (p.Arg921Cys) single nucleotide variant not provided [RCV003087215] Chr5:128171704 [GRCh38]
Chr5:127507396 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.430G>A (p.Val144Met) single nucleotide variant not provided [RCV003026640] Chr5:128084384 [GRCh38]
Chr5:127420076 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2264-5C>T single nucleotide variant not provided [RCV002938712] Chr5:128152701 [GRCh38]
Chr5:127488393 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.3299+11C>T single nucleotide variant not provided [RCV002967049] Chr5:128182952 [GRCh38]
Chr5:127518644 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.2363+5G>A single nucleotide variant Inborn genetic diseases [RCV002809436] Chr5:128152810 [GRCh38]
Chr5:127488502 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.362A>T (p.Glu121Val) single nucleotide variant not provided [RCV002933935] Chr5:128084316 [GRCh38]
Chr5:127420008 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.3361G>T (p.Asp1121Tyr) single nucleotide variant not provided [RCV002835357] Chr5:128184427 [GRCh38]
Chr5:127520119 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2589G>C (p.Leu863Phe) single nucleotide variant not provided [RCV003060009] Chr5:128161773 [GRCh38]
Chr5:127497465 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2617-19T>C single nucleotide variant not provided [RCV002635974] Chr5:128167742 [GRCh38]
Chr5:127503434 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.358G>C (p.Gly120Arg) single nucleotide variant not provided [RCV003067512] Chr5:128084312 [GRCh38]
Chr5:127420004 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1264G>T (p.Gly422Cys) single nucleotide variant Inborn genetic diseases [RCV002656738] Chr5:128134240 [GRCh38]
Chr5:127469932 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.302C>T (p.Ala101Val) single nucleotide variant not provided [RCV003052725] Chr5:128084256 [GRCh38]
Chr5:127419948 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.3475C>T (p.His1159Tyr) single nucleotide variant Inborn genetic diseases [RCV002723459] Chr5:128184828 [GRCh38]
Chr5:127520520 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2917A>G (p.Ile973Val) single nucleotide variant Inborn genetic diseases [RCV003269197]|not provided [RCV002584488] Chr5:128174654 [GRCh38]
Chr5:127510346 [GRCh37]
Chr5:5q23.3
likely benign|uncertain significance
NM_001046.3(SLC12A2):c.2005+17G>T single nucleotide variant not provided [RCV002609455] Chr5:128148894 [GRCh38]
Chr5:127484586 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.681C>T (p.Tyr227=) single nucleotide variant not provided [RCV002585056] Chr5:128084635 [GRCh38]
Chr5:127420327 [GRCh37]
Chr5:5q23.3
benign
NM_001046.3(SLC12A2):c.2263+17G>A single nucleotide variant not provided [RCV002586035] Chr5:128151413 [GRCh38]
Chr5:127487105 [GRCh37]
Chr5:5q23.3
benign
NM_001046.3(SLC12A2):c.2984A>G (p.Lys995Arg) single nucleotide variant not provided [RCV002606928] Chr5:128178573 [GRCh38]
Chr5:127514265 [GRCh37]
Chr5:5q23.3
benign
NM_001046.3(SLC12A2):c.306_320del (p.Ala103_Ala107del) deletion not provided [RCV002587147] Chr5:128084249..128084263 [GRCh38]
Chr5:127419941..127419955 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1654G>A (p.Val552Ile) single nucleotide variant not provided [RCV002586330] Chr5:128141862 [GRCh38]
Chr5:127477554 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2839A>C (p.Thr947Pro) single nucleotide variant not provided [RCV002588233] Chr5:128174576 [GRCh38]
Chr5:127510268 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1365C>A (p.Ile455=) single nucleotide variant not provided [RCV002583937] Chr5:128135765 [GRCh38]
Chr5:127471457 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.1653C>T (p.Asn551=) single nucleotide variant not provided [RCV002611411] Chr5:128141861 [GRCh38]
Chr5:127477553 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.1537-15C>A single nucleotide variant not provided [RCV002658061] Chr5:128138809 [GRCh38]
Chr5:127474501 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.1438G>A (p.Asp480Asn) single nucleotide variant not provided [RCV002612200] Chr5:128138626 [GRCh38]
Chr5:127474318 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.147G>C (p.Ala49=) single nucleotide variant not provided [RCV003069051] Chr5:128084101 [GRCh38]
Chr5:127419793 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.3364A>G (p.Ile1122Val) single nucleotide variant Hearing loss, autosomal dominant 78 [RCV004788568] Chr5:128184430 [GRCh38]
Chr5:127520122 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.504C>G (p.Asn168Lys) single nucleotide variant Inborn genetic diseases [RCV003195815] Chr5:128084458 [GRCh38]
Chr5:127420150 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.215T>G (p.Leu72Trp) single nucleotide variant Inborn genetic diseases [RCV003217782] Chr5:128084169 [GRCh38]
Chr5:127419861 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.309_311del (p.Ala107del) deletion not provided [RCV003136715] Chr5:128084261..128084263 [GRCh38]
Chr5:127419953..127419955 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.288GGC[13] (p.Ala107_Gly108insAlaAlaAlaAlaAlaAla) microsatellite not provided [RCV003136717] Chr5:128084239..128084240 [GRCh38]
Chr5:127419931..127419932 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.449C>T (p.Ser150Leu) single nucleotide variant not provided [RCV003136716] Chr5:128084403 [GRCh38]
Chr5:127420095 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.759A>C (p.Glu253Asp) single nucleotide variant not provided [RCV003228364] Chr5:128112816 [GRCh38]
Chr5:127448508 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2263+1G>T single nucleotide variant not provided [RCV003322200] Chr5:128151397 [GRCh38]
Chr5:127487089 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.506T>A (p.Val169Glu) single nucleotide variant Inborn genetic diseases [RCV003304606] Chr5:128084460 [GRCh38]
Chr5:127420152 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1934A>C (p.Tyr645Ser) single nucleotide variant Inborn genetic diseases [RCV003285155]|not provided [RCV003661028] Chr5:128148806 [GRCh38]
Chr5:127484498 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1889G>C (p.Cys630Ser) single nucleotide variant not provided [RCV003321155] Chr5:128148761 [GRCh38]
Chr5:127484453 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1444C>G (p.Arg482Gly) single nucleotide variant Delpire-McNeill syndrome [RCV003327344] Chr5:128138632 [GRCh38]
Chr5:127474324 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.3266T>C (p.Leu1089Pro) single nucleotide variant Inborn genetic diseases [RCV003373449] Chr5:128182908 [GRCh38]
Chr5:127518600 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1129G>A (p.Ala377Thr) single nucleotide variant Inborn genetic diseases [RCV004362880]|SLC12A2-related disorder [RCV004552542] Chr5:128131147 [GRCh38]
Chr5:127466839 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.300_320del (p.Ala101_Ala107del) deletion not provided [RCV003428595] Chr5:128084243..128084263 [GRCh38]
Chr5:127419935..127419955 [GRCh37]
Chr5:5q23.3
likely benign|conflicting interpretations of pathogenicity
NM_001046.3(SLC12A2):c.208A>G (p.Arg70Gly) single nucleotide variant not provided [RCV003428594] Chr5:128084162 [GRCh38]
Chr5:127419854 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2258A>G (p.Lys753Arg) single nucleotide variant not provided [RCV003441175] Chr5:128151391 [GRCh38]
Chr5:127487083 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.395G>A (p.Ser132Asn) single nucleotide variant not provided [RCV003429750] Chr5:128084349 [GRCh38]
Chr5:127420041 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.3166G>T (p.Val1056Leu) single nucleotide variant SLC12A2-related disorder [RCV004548673] Chr5:128180948 [GRCh38]
Chr5:127516640 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.113C>G (p.Ala38Gly) single nucleotide variant not provided [RCV004585672] Chr5:128084067 [GRCh38]
Chr5:127419759 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2798G>T (p.Gly933Val) single nucleotide variant not provided [RCV003429752] Chr5:128171741 [GRCh38]
Chr5:127507433 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.3132G>A (p.Thr1044=) single nucleotide variant not provided [RCV003429753] Chr5:128180914 [GRCh38]
Chr5:127516606 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.1787T>G (p.Val596Gly) single nucleotide variant not provided [RCV003429751] Chr5:128147635 [GRCh38]
Chr5:127483327 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2506T>C (p.Ser836Pro) single nucleotide variant SLC12A2-related disorder [RCV004550731] Chr5:128161690 [GRCh38]
Chr5:127497382 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2563T>C (p.Tyr855His) single nucleotide variant SLC12A2-related disorder [RCV004552621] Chr5:128161747 [GRCh38]
Chr5:127497439 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.955C>G (p.Leu319Val) single nucleotide variant not provided [RCV003428596] Chr5:128114588 [GRCh38]
Chr5:127450280 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1412A>C (p.Glu471Ala) single nucleotide variant SLC12A2-related disorder [RCV004550642] Chr5:128138600 [GRCh38]
Chr5:127474292 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1529A>G (p.Asp510Gly) single nucleotide variant Autism spectrum disorder [RCV003630587] Chr5:128138717 [GRCh38]
Chr5:127474409 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.3213-17A>G single nucleotide variant not provided [RCV003662793] Chr5:128182838 [GRCh38]
Chr5:127518530 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.756+16C>T single nucleotide variant not provided [RCV003661975] Chr5:128084726 [GRCh38]
Chr5:127420418 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.3627del (p.Phe1210fs) deletion not provided [RCV003491491] Chr5:128186618 [GRCh38]
Chr5:127522310 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.951A>G (p.Ile317Met) single nucleotide variant not provided [RCV003831532] Chr5:128114286 [GRCh38]
Chr5:127449978 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1251C>T (p.Val417=) single nucleotide variant not provided [RCV003666217] Chr5:128134227 [GRCh38]
Chr5:127469919 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.211C>T (p.Pro71Ser) single nucleotide variant not provided [RCV003830109] Chr5:128084165 [GRCh38]
Chr5:127419857 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1621+15A>G single nucleotide variant not provided [RCV003574023] Chr5:128138923 [GRCh38]
Chr5:127474615 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.1299+11_1299+23del deletion not provided [RCV003547471] Chr5:128134284..128134296 [GRCh38]
Chr5:127469976..127469988 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.1865C>T (p.Ala622Val) single nucleotide variant not provided [RCV003693012] Chr5:128147713 [GRCh38]
Chr5:127483405 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1536+14A>C single nucleotide variant not provided [RCV003831375] Chr5:128138738 [GRCh38]
Chr5:127474430 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.1470A>G (p.Val490=) single nucleotide variant not provided [RCV003689909] Chr5:128138658 [GRCh38]
Chr5:127474350 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.505G>T (p.Val169Leu) single nucleotide variant not provided [RCV003694810] Chr5:128084459 [GRCh38]
Chr5:127420151 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1220A>G (p.Asn407Ser) single nucleotide variant not provided [RCV003828608] Chr5:128134196 [GRCh38]
Chr5:127469888 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.184G>A (p.Ala62Thr) single nucleotide variant not provided [RCV003829093] Chr5:128084138 [GRCh38]
Chr5:127419830 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.3394T>C (p.Trp1132Arg) single nucleotide variant not provided [RCV003660097] Chr5:128184460 [GRCh38]
Chr5:127520152 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.3100+12A>C single nucleotide variant not provided [RCV003661354] Chr5:128178701 [GRCh38]
Chr5:127514393 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.745G>A (p.Glu249Lys) single nucleotide variant not provided [RCV003881250] Chr5:128084699 [GRCh38]
Chr5:127420391 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.3430A>G (p.Thr1144Ala) single nucleotide variant not provided [RCV003575394] Chr5:128184496 [GRCh38]
Chr5:127520188 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.808G>A (p.Asp270Asn) single nucleotide variant not provided [RCV003827220] Chr5:128112865 [GRCh38]
Chr5:127448557 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.822G>A (p.Thr274=) single nucleotide variant not provided [RCV003661834] Chr5:128112879 [GRCh38]
Chr5:127448571 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.285_311dup (p.Ala107_Gly108insAlaAlaAlaAlaAlaAlaAlaAlaAla) duplication not provided [RCV003824580] Chr5:128084236..128084237 [GRCh38]
Chr5:127419928..127419929 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.3333C>T (p.Tyr1111=) single nucleotide variant not provided [RCV003715300] Chr5:128184399 [GRCh38]
Chr5:127520091 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.1725A>G (p.Ser575=) single nucleotide variant not provided [RCV003878830] Chr5:128141933 [GRCh38]
Chr5:127477625 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.309_311dup (p.Ala107_Gly108insAla) duplication not provided [RCV003545409] Chr5:128084260..128084261 [GRCh38]
Chr5:127419952..127419953 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1408+19A>G single nucleotide variant not provided [RCV003835386] Chr5:128135827 [GRCh38]
Chr5:127471519 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.2120C>G (p.Ala707Gly) single nucleotide variant not provided [RCV003664441] Chr5:128151253 [GRCh38]
Chr5:127486945 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1963T>C (p.Tyr655His) single nucleotide variant not provided [RCV003699186] Chr5:128148835 [GRCh38]
Chr5:127484527 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.302_303insAGCGGCAGCGGCGGCGGC (p.Ala107_Gly108insAlaAlaAlaAlaAlaAla) microsatellite not provided [RCV003834395] Chr5:128084245..128084246 [GRCh38]
Chr5:127419937..127419938 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2996T>C (p.Val999Ala) single nucleotide variant not provided [RCV003717544] Chr5:128178585 [GRCh38]
Chr5:127514277 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.466C>T (p.Leu156=) single nucleotide variant not provided [RCV003697473] Chr5:128084420 [GRCh38]
Chr5:127420112 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.2006-15G>A single nucleotide variant not provided [RCV003836166] Chr5:128149982 [GRCh38]
Chr5:127485674 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.303G>T (p.Ala101=) single nucleotide variant not provided [RCV003834400] Chr5:128084257 [GRCh38]
Chr5:127419949 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.2716T>A (p.Leu906Ile) single nucleotide variant not provided [RCV003673586] Chr5:128167860 [GRCh38]
Chr5:127503552 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1049-20G>T single nucleotide variant not provided [RCV003811859] Chr5:128131047 [GRCh38]
Chr5:127466739 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.3526G>T (p.Gly1176Cys) single nucleotide variant not provided [RCV003579844] Chr5:128186518 [GRCh38]
Chr5:127522210 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.277G>T (p.Ala93Ser) single nucleotide variant not provided [RCV003702315] Chr5:128084231 [GRCh38]
Chr5:127419923 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.516G>A (p.Gln172=) single nucleotide variant not provided [RCV003726558] Chr5:128084470 [GRCh38]
Chr5:127420162 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.227C>G (p.Pro76Arg) single nucleotide variant not provided [RCV003837676] Chr5:128084181 [GRCh38]
Chr5:127419873 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2447G>C (p.Gly816Ala) single nucleotide variant not provided [RCV003700706] Chr5:128158136 [GRCh38]
Chr5:127493828 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2264-16C>T single nucleotide variant not provided [RCV003834495] Chr5:128152690 [GRCh38]
Chr5:127488382 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.1049-23TTTG[3] microsatellite not provided [RCV003816535] Chr5:128131044..128131047 [GRCh38]
Chr5:127466736..127466739 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.877-13T>C single nucleotide variant not provided [RCV003852013] Chr5:128114199 [GRCh38]
Chr5:127449891 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.1751A>G (p.Tyr584Cys) single nucleotide variant not provided [RCV003856001] Chr5:128141959 [GRCh38]
Chr5:127477651 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2636T>C (p.Met879Thr) single nucleotide variant not provided [RCV003672215] Chr5:128167780 [GRCh38]
Chr5:127503472 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.324T>G (p.Gly108=) single nucleotide variant not provided [RCV003836382] Chr5:128084278 [GRCh38]
Chr5:127419970 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.312GGC[5] (p.Ala107_Gly108insAlaAla) microsatellite not provided [RCV003837231] Chr5:128084263..128084264 [GRCh38]
Chr5:127419955..127419956 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2617-12C>T single nucleotide variant not provided [RCV003839012] Chr5:128167749 [GRCh38]
Chr5:127503441 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.3299+15A>G single nucleotide variant not provided [RCV003833741] Chr5:128182956 [GRCh38]
Chr5:127518648 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.1600G>A (p.Val534Ile) single nucleotide variant not provided [RCV003837682] Chr5:128138887 [GRCh38]
Chr5:127474579 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1887A>T (p.Leu629=) single nucleotide variant not provided [RCV003816400] Chr5:128148759 [GRCh38]
Chr5:127484451 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.3555A>G (p.Ala1185=) single nucleotide variant not provided [RCV003838983] Chr5:128186547 [GRCh38]
Chr5:127522239 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.358G>A (p.Gly120Arg) single nucleotide variant not provided [RCV003558972] Chr5:128084312 [GRCh38]
Chr5:127420004 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.2935G>T (p.Glu979Ter) single nucleotide variant not provided [RCV003702001] Chr5:128177110 [GRCh38]
Chr5:127512802 [GRCh37]
Chr5:5q23.3
pathogenic
NM_001046.3(SLC12A2):c.1408+7A>T single nucleotide variant not provided [RCV003815009] Chr5:128135815 [GRCh38]
Chr5:127471507 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.120C>T (p.Pro40=) single nucleotide variant not provided [RCV003681892] Chr5:128084074 [GRCh38]
Chr5:127419766 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.1322T>C (p.Ile441Thr) single nucleotide variant not provided [RCV003735894] Chr5:128135722 [GRCh38]
Chr5:127471414 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.208A>C (p.Arg70=) single nucleotide variant not provided [RCV003864290] Chr5:128084162 [GRCh38]
Chr5:127419854 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.1566A>G (p.Thr522=) single nucleotide variant not provided [RCV003556496] Chr5:128138853 [GRCh38]
Chr5:127474545 [GRCh37]
Chr5:5q23.3
benign|likely benign
NM_001046.3(SLC12A2):c.757-2A>G single nucleotide variant not provided [RCV003847249] Chr5:128112812 [GRCh38]
Chr5:127448504 [GRCh37]
Chr5:5q23.3
likely pathogenic
NM_001046.3(SLC12A2):c.2213C>T (p.Thr738Ile) single nucleotide variant not provided [RCV003564881] Chr5:128151346 [GRCh38]
Chr5:127487038 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.652A>G (p.Met218Val) single nucleotide variant SLC12A2-related disorder [RCV004736649]|not provided [RCV003734747] Chr5:128084606 [GRCh38]
Chr5:127420298 [GRCh37]
Chr5:5q23.3
likely benign|uncertain significance
NM_001046.3(SLC12A2):c.288GGC[3] (p.Ala104_Ala107del) microsatellite not provided [RCV003557288] Chr5:128084240..128084251 [GRCh38]
Chr5:127419932..127419943 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.2804-14T>C single nucleotide variant not provided [RCV003824352] Chr5:128174527 [GRCh38]
Chr5:127510219 [GRCh37]
Chr5:5q23.3
likely benign
GRCh37/hg19 5q23.2-23.3(chr5:125506060-128162785)x3 copy number gain not specified [RCV003986555] Chr5:125506060..128162785 [GRCh37]
Chr5:5q23.2-23.3
pathogenic
NM_001046.3(SLC12A2):c.289G>A (p.Ala97Thr) single nucleotide variant not provided [RCV003552862] Chr5:128084243 [GRCh38]
Chr5:127419935 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2710A>G (p.Ile904Val) single nucleotide variant not provided [RCV003859063] Chr5:128167854 [GRCh38]
Chr5:127503546 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.696G>T (p.Ala232=) single nucleotide variant not provided [RCV003721756] Chr5:128084650 [GRCh38]
Chr5:127420342 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.1536+20A>G single nucleotide variant not provided [RCV003821965] Chr5:128138744 [GRCh38]
Chr5:127474436 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.571G>A (p.Gly191Ser) single nucleotide variant not provided [RCV003859322] Chr5:128084525 [GRCh38]
Chr5:127420217 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.306_320dup (p.Ala107_Gly108insAlaAlaAlaAlaAla) duplication not provided [RCV003553514] Chr5:128084248..128084249 [GRCh38]
Chr5:127419940..127419941 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2343A>G (p.Glu781=) single nucleotide variant not provided [RCV003868504] Chr5:128152785 [GRCh38]
Chr5:127488477 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.2967G>A (p.Leu989=) single nucleotide variant not provided [RCV003853229] Chr5:128177142 [GRCh38]
Chr5:127512834 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.4G>C (p.Glu2Gln) single nucleotide variant not provided [RCV003821310] Chr5:128083958 [GRCh38]
Chr5:127419650 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2327G>A (p.Arg776His) single nucleotide variant not provided [RCV003721671] Chr5:128152769 [GRCh38]
Chr5:127488461 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2483G>A (p.Arg828Gln) single nucleotide variant not provided [RCV003550916] Chr5:128161667 [GRCh38]
Chr5:127497359 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.2719T>C (p.Phe907Leu) single nucleotide variant not provided [RCV003848598] Chr5:128167863 [GRCh38]
Chr5:127503555 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.420C>T (p.Arg140=) single nucleotide variant not provided [RCV003556924] Chr5:128084374 [GRCh38]
Chr5:127420066 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.592C>T (p.His198Tyr) single nucleotide variant not provided [RCV003844663] Chr5:128084546 [GRCh38]
Chr5:127420238 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.464G>C (p.Ser155Thr) single nucleotide variant not provided [RCV003843131] Chr5:128084418 [GRCh38]
Chr5:127420110 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1760T>C (p.Met587Thr) single nucleotide variant not provided [RCV003728493] Chr5:128141968 [GRCh38]
Chr5:127477660 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2978A>T (p.Glu993Val) single nucleotide variant not provided [RCV003553335] Chr5:128178567 [GRCh38]
Chr5:127514259 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.520G>A (p.Gly174Ser) single nucleotide variant not provided [RCV003566373] Chr5:128084474 [GRCh38]
Chr5:127420166 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.3299+13A>G single nucleotide variant not provided [RCV003706852] Chr5:128182954 [GRCh38]
Chr5:127518646 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.3070A>G (p.Ile1024Val) single nucleotide variant not provided [RCV003554175] Chr5:128178659 [GRCh38]
Chr5:127514351 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.959C>A (p.Ser320Ter) single nucleotide variant Kilquist syndrome [RCV003990061] Chr5:128114592 [GRCh38]
Chr5:127450284 [GRCh37]
Chr5:5q23.3
likely pathogenic
NM_001046.3(SLC12A2):c.1228C>T (p.Arg410Ter) single nucleotide variant SLC12A2-related disorder [RCV004550844] Chr5:128134204 [GRCh38]
Chr5:127469896 [GRCh37]
Chr5:5q23.3
pathogenic
NM_001046.3(SLC12A2):c.2930-5T>A single nucleotide variant Hearing loss, autosomal dominant 78 [RCV003988608] Chr5:128177100 [GRCh38]
Chr5:127512792 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.685C>T (p.His229Tyr) single nucleotide variant SLC12A2-related disorder [RCV004554369] Chr5:128084639 [GRCh38]
Chr5:127420331 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2523A>G (p.Lys841=) single nucleotide variant not provided [RCV003886978] Chr5:128161707 [GRCh38]
Chr5:127497399 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.2617-2A>G single nucleotide variant Kilquist syndrome [RCV003988778] Chr5:128167759 [GRCh38]
Chr5:127503451 [GRCh37]
Chr5:5q23.3
pathogenic
NM_001046.3(SLC12A2):c.2361T>G (p.Phe787Leu) single nucleotide variant Kilquist syndrome [RCV003990592] Chr5:128152803 [GRCh38]
Chr5:127488495 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.385G>T (p.Ala129Ser) single nucleotide variant not provided [RCV003887014] Chr5:128084339 [GRCh38]
Chr5:127420031 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1183C>A (p.Leu395Ile) single nucleotide variant not provided [RCV003887027] Chr5:128131201 [GRCh38]
Chr5:127466893 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2756T>C (p.Val919Ala) single nucleotide variant Kilquist syndrome [RCV003989091] Chr5:128171699 [GRCh38]
Chr5:127507391 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1389A>C (p.Lys463Asn) single nucleotide variant Inborn genetic diseases [RCV004456220] Chr5:128135789 [GRCh38]
Chr5:127471481 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.799C>A (p.Pro267Thr) single nucleotide variant Inborn genetic diseases [RCV004456231] Chr5:128112856 [GRCh38]
Chr5:127448548 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.814G>A (p.Val272Met) single nucleotide variant Inborn genetic diseases [RCV004456232] Chr5:128112871 [GRCh38]
Chr5:127448563 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2264A>G (p.Asp755Gly) single nucleotide variant Inborn genetic diseases [RCV004456221] Chr5:128152706 [GRCh38]
Chr5:127488398 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.290C>G (p.Ala97Gly) single nucleotide variant Inborn genetic diseases [RCV004456225] Chr5:128084244 [GRCh38]
Chr5:127419936 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.377G>A (p.Ser126Asn) single nucleotide variant Inborn genetic diseases [RCV004456228] Chr5:128084331 [GRCh38]
Chr5:127420023 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.3419A>G (p.Glu1140Gly) single nucleotide variant Delpire-McNeill syndrome [RCV004555313] Chr5:128184485 [GRCh38]
Chr5:127520177 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.877G>A (p.Val293Ile) single nucleotide variant Delpire-McNeill syndrome [RCV004555772] Chr5:128114212 [GRCh38]
Chr5:127449904 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1014T>C (p.Thr338=) single nucleotide variant not provided [RCV004585933] Chr5:128114647 [GRCh38]
Chr5:127450339 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.2069A>G (p.Asn690Ser) single nucleotide variant Delpire-McNeill syndrome [RCV004545922] Chr5:128150060 [GRCh38]
Chr5:127485752 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1012A>T (p.Thr338Ser) single nucleotide variant Inborn genetic diseases [RCV004456219] Chr5:128114645 [GRCh38]
Chr5:127450337 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.342G>C (p.Lys114Asn) single nucleotide variant Inborn genetic diseases [RCV004456226] Chr5:128084296 [GRCh38]
Chr5:127419988 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1237G>A (p.Gly413Arg) single nucleotide variant Delpire-McNeill syndrome [RCV004566515] Chr5:128134213 [GRCh38]
Chr5:127469905 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.3533T>A (p.Val1178Glu) single nucleotide variant Delpire-McNeill syndrome [RCV003991129] Chr5:128186525 [GRCh38]
Chr5:127522217 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.386C>A (p.Ala129Asp) single nucleotide variant not provided [RCV004598998] Chr5:128084340 [GRCh38]
Chr5:127420032 [GRCh37]
Chr5:5q23.3
uncertain significance
GRCh37/hg19 5q23.2-31.1(chr5:124864529-134720575)x1 copy number loss not provided [RCV004577463] Chr5:124864529..134720575 [GRCh37]
Chr5:5q23.2-31.1
pathogenic
NM_001046.3(SLC12A2):c.154G>A (p.Asp52Asn) single nucleotide variant Delpire-McNeill syndrome [RCV004547377] Chr5:128084108 [GRCh38]
Chr5:127419800 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2404C>T (p.Pro802Ser) single nucleotide variant Inborn genetic diseases [RCV004456222] Chr5:128158093 [GRCh38]
Chr5:127493785 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2870G>A (p.Ser957Asn) single nucleotide variant Inborn genetic diseases [RCV004456224] Chr5:128174607 [GRCh38]
Chr5:127510299 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.64C>T (p.Pro22Ser) single nucleotide variant Inborn genetic diseases [RCV004456230] Chr5:128084018 [GRCh38]
Chr5:127419710 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.3520C>T (p.Arg1174Ter) single nucleotide variant not provided [RCV004599183] Chr5:128186512 [GRCh38]
Chr5:127522204 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.3550A>G (p.Met1184Val) single nucleotide variant not provided [RCV004591989] Chr5:128186542 [GRCh38]
Chr5:127522234 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.815T>C (p.Val272Ala) single nucleotide variant not provided [RCV004585733] Chr5:128112872 [GRCh38]
Chr5:127448564 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.3182A>C (p.Lys1061Thr) single nucleotide variant Inborn genetic diseases [RCV004676498] Chr5:128180964 [GRCh38]
Chr5:127516656 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.3212+1G>T single nucleotide variant not provided [RCV004698089] Chr5:128180995 [GRCh38]
Chr5:127516687 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2833C>G (p.Pro945Ala) single nucleotide variant SLC12A2-related disorder [RCV004737067] Chr5:128174570 [GRCh38]
Chr5:127510262 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2742A>G (p.Gln914=) single nucleotide variant not provided [RCV004727504] Chr5:128171685 [GRCh38]
Chr5:127507377 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.45G>A (p.Leu15=) single nucleotide variant not provided [RCV004810108] Chr5:128083999 [GRCh38]
Chr5:127419691 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.3197del (p.Asp1066fs) deletion not provided [RCV004781307] Chr5:128180979 [GRCh38]
Chr5:127516671 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.45G>C (p.Leu15=) single nucleotide variant not provided [RCV004722600] Chr5:128083999 [GRCh38]
Chr5:127419691 [GRCh37]
Chr5:5q23.3
likely benign
NM_001046.3(SLC12A2):c.2616+1G>T single nucleotide variant not provided [RCV004773412] Chr5:128161801 [GRCh38]
Chr5:127497493 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2758A>G (p.Ile920Val) single nucleotide variant not provided [RCV004811335] Chr5:128171701 [GRCh38]
Chr5:127507393 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1174G>A (p.Val392Met) single nucleotide variant not provided [RCV004774156] Chr5:128131192 [GRCh38]
Chr5:127466884 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.287C>T (p.Ala96Val) single nucleotide variant not provided [RCV004766263] Chr5:128084241 [GRCh38]
Chr5:127419933 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.119C>T (p.Pro40Leu) single nucleotide variant Delpire-McNeill syndrome [RCV004723690] Chr5:128084073 [GRCh38]
Chr5:127419765 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1405_1408+1del deletion not provided [RCV004763766]   uncertain significance
NM_001046.3(SLC12A2):c.1520T>C (p.Ile507Thr) single nucleotide variant not provided [RCV004769885] Chr5:128138708 [GRCh38]
Chr5:127474400 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1537G>A (p.Asp513Asn) single nucleotide variant not provided [RCV004772289] Chr5:128138824 [GRCh38]
Chr5:127474516 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2200G>C (p.Ala734Pro) single nucleotide variant not provided [RCV004771007] Chr5:128151333 [GRCh38]
Chr5:127487025 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.2005+2T>G single nucleotide variant not provided [RCV004771009] Chr5:128148879 [GRCh38]
Chr5:127484571 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.1653C>A (p.Asn551Lys) single nucleotide variant not provided [RCV004771210] Chr5:128141861 [GRCh38]
Chr5:127477553 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.530C>T (p.Thr177Met) single nucleotide variant SLC12A2-related disorder [RCV004737679] Chr5:128084484 [GRCh38]
Chr5:127420176 [GRCh37]
Chr5:5q23.3
uncertain significance
NM_001046.3(SLC12A2):c.196G>A (p.Asp66Asn) single nucleotide variant Inborn genetic diseases [RCV003357258] Chr5:128084150 [GRCh38]
Chr5:127419842 [GRCh37]
Chr5:5q23.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2200
Count of miRNA genes:848
Interacting mature miRNAs:1024
Transcripts:ENST00000262461, ENST00000343225, ENST00000502849, ENST00000504416, ENST00000507791, ENST00000509205, ENST00000509616
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
597029140GWAS1125214_HRed cell distribution width QTL GWAS1125214 (human)2e-138Red cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)5128118043128118044Human
597590940GWAS1647800_Hlymphatic system disease QTL GWAS1647800 (human)1e-12lymphatic system disease5128095593128095594Human
597189597GWAS1285671_Hsex hormone-binding globulin measurement QTL GWAS1285671 (human)6e-16sex hormone-binding globulin measurement5128097216128097220Human
597082960GWAS1179034_Hreticulocyte measurement QTL GWAS1179034 (human)4e-27reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)5128141279128141280Human
597199007GWAS1295081_Hlean body mass QTL GWAS1295081 (human)3e-17body lean mass (VT:0010483)total body lean mass (CMO:0003950)5128165543128165544Human
597341714GWAS1437788_Herythrocyte measurement QTL GWAS1437788 (human)2e-28erythrocyte measurementred blood cell measurement (CMO:0001356)5128095593128095594Human
597057054GWAS1153128_Heosinophil count QTL GWAS1153128 (human)3e-11eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)5128172382128172384Human
597111006GWAS1207080_HVaricose veins QTL GWAS1207080 (human)1e-19Varicose veins5128188326128188327Human
596952538GWAS1072057_HRed cell distribution width QTL GWAS1072057 (human)3e-13Red cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)5128097216128097220Human
597271191GWAS1367265_Hsystolic blood pressure QTL GWAS1367265 (human)3e-11systolic blood pressuresystolic blood pressure (CMO:0000004)5128141078128141079Human
597199178GWAS1295252_Hbody height QTL GWAS1295252 (human)0.000004body height (VT:0001253)body height (CMO:0000106)5128155873128155874Human
597248714GWAS1344788_Hserum albumin measurement QTL GWAS1344788 (human)4e-14serum albumin measurementserum albumin level (CMO:0000550)5128097216128097220Human
596949888GWAS1069407_Hpelvic organ prolapse QTL GWAS1069407 (human)1e-11pelvic organ prolapse5128176372128176373Human
597301071GWAS1397145_HRed cell distribution width QTL GWAS1397145 (human)7e-75Red cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)5128106169128106170Human
596954882GWAS1074401_HRed cell distribution width QTL GWAS1074401 (human)2e-12Red cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)5128186065128186066Human
597097420GWAS1193494_Hsex hormone-binding globulin measurement QTL GWAS1193494 (human)3e-11sex hormone-binding globulin measurement5128097216128097220Human
597201090GWAS1297164_Hserum albumin measurement QTL GWAS1297164 (human)6e-10serum albumin measurementserum albumin level (CMO:0000550)5128151911128151912Human
407023513GWAS672489_Hcarcinoid tumor QTL GWAS672489 (human)0.000002carcinoid tumor5128186851128186852Human
597352262GWAS1448336_Hbody height QTL GWAS1448336 (human)2e-141body height (VT:0001253)body height (CMO:0000106)5128155873128155874Human
597286468GWAS1382542_Heosinophil count QTL GWAS1382542 (human)2e-08eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)5128112374128112375Human
597621182GWAS1678042_Hlymphatic system disease QTL GWAS1678042 (human)2e-13lymphatic system disease5128095593128095594Human
597263227GWAS1359301_Hbody height QTL GWAS1359301 (human)4e-15body height (VT:0001253)body height (CMO:0000106)5128155873128155874Human
407405290GWAS1054266_Hobsolete_red blood cell distribution width QTL GWAS1054266 (human)2e-12obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)5128186065128186066Human
597286266GWAS1382340_Hcalcium measurement QTL GWAS1382340 (human)2e-08calcium measurementblood calcium level (CMO:0000502)5128097216128097220Human
597606650GWAS1663510_HRed cell distribution width QTL GWAS1663510 (human)4e-27Red cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)5128095593128095594Human
597079922GWAS1175996_HRed cell distribution width QTL GWAS1175996 (human)3e-13Red cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)5128097216128097220Human
406935653GWAS584629_Hheel bone mineral density QTL GWAS584629 (human)4e-08heel bone mineral densitybone mineral density (CMO:0001226)5128151911128151912Human
596952498GWAS1072017_HRed cell distribution width QTL GWAS1072017 (human)1e-11Red cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)5128106169128106170Human
597079921GWAS1175995_HRed cell distribution width QTL GWAS1175995 (human)1e-11Red cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)5128106169128106170Human
597271678GWAS1367752_Htriglyceride measurement QTL GWAS1367752 (human)3e-09triglyceride measurementblood triglyceride level (CMO:0000118)5128118043128118044Human
597604599GWAS1661459_HRed cell distribution width QTL GWAS1661459 (human)2e-46Red cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)5128095593128095594Human
597604855GWAS1661715_HRed cell distribution width QTL GWAS1661715 (human)6e-64Red cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)5128095593128095594Human
407405027GWAS1054003_Hobsolete_red blood cell distribution width QTL GWAS1054003 (human)1e-11obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)5128106169128106170Human
407405028GWAS1054004_Hobsolete_red blood cell distribution width QTL GWAS1054004 (human)3e-13obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)5128097216128097220Human
596987577GWAS1107096_HRed cell distribution width QTL GWAS1107096 (human)7e-75Red cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)5128106169128106170Human
407350443GWAS999419_Hobsolete_red blood cell distribution width QTL GWAS999419 (human)2e-138obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)5128118043128118044Human
597097464GWAS1193538_Hsex hormone-binding globulin measurement QTL GWAS1193538 (human)2e-18sex hormone-binding globulin measurement5128097216128097220Human
597280887GWAS1376961_Hpelvic organ prolapse QTL GWAS1376961 (human)1e-11pelvic organ prolapse5128176372128176373Human
597042855GWAS1138929_Happendicular lean mass QTL GWAS1138929 (human)4e-49appendicular lean mass5128151911128151912Human
596976160GWAS1095679_HRed cell distribution width QTL GWAS1095679 (human)2e-138Red cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)5128118043128118044Human
597211040GWAS1307114_Hpelvic organ prolapse QTL GWAS1307114 (human)1e-10pelvic organ prolapse5128176372128176373Human
407110394GWAS759370_Heosinophil count QTL GWAS759370 (human)1e-09eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)5128151911128151912Human
597023466GWAS1119540_Hbreast carcinoma QTL GWAS1119540 (human)0.000009mammary gland integrity trait (VT:0010552)5128098106128098107Human
597108712GWAS1204786_HVaricose veins QTL GWAS1204786 (human)9e-18Varicose veins5128188326128188327Human

Markers in Region
SHGC-79547  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375127,466,631 - 127,466,902UniSTSGRCh37
Build 365127,494,530 - 127,494,801RGDNCBI36
Celera5123,598,642 - 123,598,913RGD
Cytogenetic Map5q23.3UniSTS
HuRef5122,657,367 - 122,657,638UniSTS
TNG Radiation Hybrid Map559349.0UniSTS
bac51423S  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375127,523,323 - 127,523,499UniSTSGRCh37
Build 365127,551,222 - 127,551,398RGDNCBI36
Celera5123,655,332 - 123,655,508RGD
Cytogenetic Map5q23.3UniSTS
HuRef5122,714,057 - 122,714,233UniSTS
bac51488T  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375127,497,647 - 127,497,796UniSTSGRCh37
Build 365127,525,546 - 127,525,695RGDNCBI36
Celera5123,629,657 - 123,629,806RGD
Cytogenetic Map5q23.3UniSTS
HuRef5122,688,382 - 122,688,531UniSTS
bac5341T  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375127,449,003 - 127,449,266UniSTSGRCh37
Build 365127,476,902 - 127,477,165RGDNCBI36
Celera5123,581,013 - 123,581,276RGD
Cytogenetic Map5q23.3UniSTS
HuRef5122,639,736 - 122,639,999UniSTS
SLC12A2_2056  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375127,524,499 - 127,525,383UniSTSGRCh37
Build 365127,552,398 - 127,553,282RGDNCBI36
Celera5123,656,506 - 123,657,390RGD
HuRef5122,715,232 - 122,716,116UniSTS
SGC32885  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375127,524,681 - 127,524,805UniSTSGRCh37
Build 365127,552,580 - 127,552,704RGDNCBI36
Celera5123,656,688 - 123,656,812RGD
Cytogenetic Map5q23.3UniSTS
HuRef5122,715,414 - 122,715,538UniSTS
GeneMap99-GB4 RH Map5510.52UniSTS
Whitehead-RH Map5410.8UniSTS
STS-N22107  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375127,525,196 - 127,525,321UniSTSGRCh37
Build 365127,553,095 - 127,553,220RGDNCBI36
Celera5123,657,203 - 123,657,328RGD
Cytogenetic Map5q23.3UniSTS
HuRef5122,715,929 - 122,716,054UniSTS
GeneMap99-GB4 RH Map5509.68UniSTS
016YB7  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375127,496,507 - 127,496,615UniSTSGRCh37
Build 365127,524,406 - 127,524,514RGDNCBI36
Celera5123,628,517 - 123,628,625RGD
Cytogenetic Map5q23.3UniSTS
HuRef5122,687,242 - 122,687,350UniSTS
Whitehead-RH Map5403.4UniSTS
A006Y26  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375127,524,206 - 127,524,313UniSTSGRCh37
Build 365127,552,105 - 127,552,212RGDNCBI36
Celera5123,656,213 - 123,656,320RGD
Cytogenetic Map5q23.3UniSTS
HuRef5122,714,939 - 122,715,046UniSTS
GeneMap99-GB4 RH Map5504.64UniSTS
SGC35509  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375127,522,339 - 127,522,554UniSTSGRCh37
Build 365127,550,238 - 127,550,453RGDNCBI36
Celera5123,654,348 - 123,654,563RGD
Cytogenetic Map5q23.3UniSTS
HuRef5122,713,073 - 122,713,288UniSTS
GeneMap99-GB4 RH Map5509.68UniSTS
Whitehead-RH Map5410.9UniSTS
D10S275  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map13q12.13UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map6q24UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map3p25UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map20pter-q11.23UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map3q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12q24.32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11p14.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map6q12-q13UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2p14UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
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Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS


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
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1949 465 2270 7304 6470 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_042286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_046207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054353244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054353245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054353246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001742214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA425438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AA425619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AA843086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF439152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI493213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV708692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY280459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC146839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM978607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ457007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U30246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z36839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000262461   ⟹   ENSP00000262461
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5128,083,766 - 128,189,677 (+)Ensembl
Ensembl Acc Id: ENST00000343225   ⟹   ENSP00000340878
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5128,083,848 - 128,188,442 (+)Ensembl
Ensembl Acc Id: ENST00000502849
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5128,178,380 - 128,182,921 (+)Ensembl
Ensembl Acc Id: ENST00000504416
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5128,157,988 - 128,171,095 (+)Ensembl
Ensembl Acc Id: ENST00000507791
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5128,177,549 - 128,184,507 (+)Ensembl
Ensembl Acc Id: ENST00000509205   ⟹   ENSP00000427109
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5128,083,791 - 128,187,025 (+)Ensembl
Ensembl Acc Id: ENST00000509616
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5128,158,049 - 128,171,882 (+)Ensembl
Ensembl Acc Id: ENST00000628403   ⟹   ENSP00000486323
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5128,083,791 - 128,184,740 (+)Ensembl
RefSeq Acc Id: NM_001046   ⟹   NP_001037
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385128,083,766 - 128,189,677 (+)NCBI
GRCh375127,419,483 - 127,525,380 (+)ENTREZGENE
Build 365127,447,382 - 127,553,279 (+)NCBI Archive
HuRef5122,610,291 - 122,716,113 (+)ENTREZGENE
CHM1_15126,852,070 - 126,957,950 (+)NCBI
T2T-CHM13v2.05128,602,602 - 128,708,515 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001256461   ⟹   NP_001243390
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385128,083,766 - 128,189,677 (+)NCBI
GRCh375127,419,483 - 127,525,380 (+)NCBI
HuRef5122,610,291 - 122,716,113 (+)NCBI
CHM1_15126,852,070 - 126,957,950 (+)NCBI
T2T-CHM13v2.05128,602,602 - 128,708,515 (+)NCBI
Sequence:
RefSeq Acc Id: NR_046207
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385128,083,766 - 128,189,677 (+)NCBI
GRCh375127,419,483 - 127,525,380 (+)NCBI
HuRef5122,610,291 - 122,716,113 (+)NCBI
CHM1_15126,852,070 - 126,957,950 (+)NCBI
T2T-CHM13v2.05128,602,602 - 128,708,515 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011543588   ⟹   XP_011541890
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385128,083,766 - 128,143,956 (+)NCBI
Sequence: