ADCY3 (adenylate cyclase 3) - Rat Genome Database

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Gene: ADCY3 (adenylate cyclase 3) Homo sapiens
Analyze
Symbol: ADCY3
Name: adenylate cyclase 3
RGD ID: 732499
HGNC Page HGNC:234
Description: Predicted to enable adenylate cyclase activity. Predicted to be involved in several processes, including cAMP biosynthetic process; cellular response to forskolin; and olfactory learning. Located in cytoplasm and plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AC-III; AC3; adenylate cyclase type 3; adenylate cyclase type III; adenylate cyclase, olfactive type; adenylyl cyclase 3; adenylyl cyclase, type III; ATP pyrophosphate-lyase 3; BMIQ19; KIAA0511
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
GRCh38224,819,169 - 24,920,237 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl224,819,169 - 24,920,237 (-)EnsemblGRCh38hg38GRCh38
GRCh37225,042,038 - 25,143,106 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36224,895,542 - 24,995,559 (-)NCBINCBI36Build 36hg18NCBI36
Build 34224,953,691 - 25,053,654NCBI
Celera224,882,356 - 24,982,363 (-)NCBICelera
Cytogenetic Map2p23.3NCBI
HuRef224,779,864 - 24,880,170 (-)NCBIHuRef
CHM1_1224,971,569 - 25,071,569 (-)NCBICHM1_1
T2T-CHM13v2.0224,853,918 - 24,954,979 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-demecolcine  (EXP)
(1->4)-beta-D-glucan  (ISO)
1,2-dichloroethane  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2-methylcholine  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP,ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
acrolein  (EXP)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
alpha-pinene  (EXP)
alpha-Zearalanol  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
beta-naphthoflavone  (EXP,ISO)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butanal  (EXP)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
choline  (ISO)
cisplatin  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
crocidolite asbestos  (EXP)
dexamethasone  (EXP,ISO)
dibutyl phthalate  (ISO)
dichlorine  (ISO)
disulfiram  (EXP)
divanadium pentaoxide  (ISO)
endosulfan  (ISO)
ethanol  (ISO)
folic acid  (ISO)
formaldehyde  (EXP,ISO)
FR900359  (EXP)
hydrogen peroxide  (EXP)
indometacin  (EXP)
L-methionine  (ISO)
leflunomide  (EXP)
Licarin A  (ISO)
manganese atom  (EXP)
manganese(0)  (EXP)
manganese(II) chloride  (EXP)
menadione  (EXP)
methamphetamine  (ISO)
methapyrilene  (EXP)
methotrexate  (EXP)
N-nitrosodiethylamine  (ISO)
nitrogen dioxide  (EXP)
Octicizer  (ISO)
ozone  (EXP,ISO)
paraquat  (ISO)
pentachlorophenol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
rotenone  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP,ISO)
tert-butyl hydroperoxide  (EXP)
testosterone enanthate  (ISO)
thiram  (EXP)
toluene  (ISO)
triclosan  (ISO)
triphenyl phosphate  (EXP)
undecane  (ISO)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Identification of a specialized adenylyl cyclase that may mediate odorant detection. Bakalyar HA and Reed RR, Science 1990 Dec 7;250(4986):1403-6.
2. An abnormal gene expression of the beta-adrenergic system contributes to the pathogenesis of cardiomyopathy in cirrhotic rats. Ceolotto G, etal., Hepatology. 2008 Dec;48(6):1913-23. doi: 10.1002/hep.22533.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. Rodent oocytes express an active adenylyl cyclase required for meiotic arrest. Horner K, etal., Dev Biol 2003 Jun 15;258(2):385-96.
5. Meglumine cyclic adenylate improves neurological function following acute spinal cord injury in rats. Liao J, etal., Mol Med Rep. 2014 Sep;10(3):1225-30. doi: 10.3892/mmr.2014.2352. Epub 2014 Jun 25.
6. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
7. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. Physiological roles for G protein-regulated adenylyl cyclase isoforms: insights from knockout and overexpression studies. Sadana R and Dessauer CW, Neurosignals. 2009;17(1):5-22. Epub 2008 Oct 24.
10. Increased expression of adenylyl cyclase 3 in pancreatic islets and central nervous system of diabetic Goto-Kakizaki rats: a possible regulatory role in glucose homeostasis. Seed Ahmed M, etal., Islets. 2012 Sep-Oct;4(5):343-8. doi: 10.4161/isl.22283. Epub 2012 Sep 1.
11. α-Cedrene protects rodents from high-fat diet-induced adiposity via adenylyl cyclase 3. Tong T, etal., Int J Obes (Lond). 2019 Jan;43(1):202-216. doi: 10.1038/s41366-018-0176-0. Epub 2018 Dec 19.
Additional References at PubMed
PMID:2165385   PMID:7937899   PMID:7959689   PMID:8034296   PMID:8476432   PMID:8663304   PMID:8798667   PMID:9417641   PMID:9628581   PMID:9768837   PMID:9920776   PMID:10089566  
PMID:10807185   PMID:10808179   PMID:11162902   PMID:11299302   PMID:11549699   PMID:11884542   PMID:12122055   PMID:12477932   PMID:12503609   PMID:12623444   PMID:12626323   PMID:12782409  
PMID:14702039   PMID:14993377   PMID:15489334   PMID:15815621   PMID:16303743   PMID:16344560   PMID:17581954   PMID:17586501   PMID:17895882   PMID:18391951   PMID:19576885   PMID:19946888  
PMID:20201924   PMID:20935630   PMID:21042317   PMID:21079816   PMID:21873635   PMID:21980299   PMID:22344219   PMID:22681560   PMID:23077041   PMID:23128233   PMID:23449627   PMID:23517042  
PMID:23563607   PMID:23583978   PMID:24113161   PMID:24561123   PMID:24861553   PMID:25044758   PMID:25431134   PMID:26186194   PMID:26514267   PMID:28122017   PMID:28514442   PMID:28611215  
PMID:28986522   PMID:29311635   PMID:29311636   PMID:29311637   PMID:29507755   PMID:29921800   PMID:31871319   PMID:32513696   PMID:33961781   PMID:34079125   PMID:34481002   PMID:34821371  
PMID:37955134   PMID:38117590   PMID:38334651   PMID:38684889  


Genomics

Comparative Map Data
ADCY3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38224,819,169 - 24,920,237 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl224,819,169 - 24,920,237 (-)EnsemblGRCh38hg38GRCh38
GRCh37225,042,038 - 25,143,106 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36224,895,542 - 24,995,559 (-)NCBINCBI36Build 36hg18NCBI36
Build 34224,953,691 - 25,053,654NCBI
Celera224,882,356 - 24,982,363 (-)NCBICelera
Cytogenetic Map2p23.3NCBI
HuRef224,779,864 - 24,880,170 (-)NCBIHuRef
CHM1_1224,971,569 - 25,071,569 (-)NCBICHM1_1
T2T-CHM13v2.0224,853,918 - 24,954,979 (-)NCBIT2T-CHM13v2.0
Adcy3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39124,183,397 - 4,263,525 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl124,183,103 - 4,263,525 (+)EnsemblGRCm39 Ensembl
GRCm38124,133,116 - 4,213,525 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl124,133,103 - 4,213,525 (+)EnsemblGRCm38mm10GRCm38
MGSCv37124,133,397 - 4,213,524 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36124,134,076 - 4,214,096 (+)NCBIMGSCv36mm8
Celera124,061,963 - 4,140,655 (+)NCBICelera
Cytogenetic Map12A1.1NCBI
cM Map121.99NCBI
Adcy3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8632,819,602 - 32,923,174 (+)NCBIGRCr8
mRatBN7.2627,100,089 - 27,203,686 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl627,124,828 - 27,203,686 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx627,417,094 - 27,495,948 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0627,732,977 - 27,811,837 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0627,210,479 - 27,289,371 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0628,570,941 - 28,648,848 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl628,571,351 - 28,650,148 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0638,378,060 - 38,454,926 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4627,118,325 - 27,202,275 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1627,121,352 - 27,205,228 (+)NCBI
Celera626,598,414 - 26,676,272 (+)NCBICelera
Cytogenetic Map6q14NCBI
Adcy3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554696,929,092 - 7,026,758 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554696,933,208 - 7,026,179 (-)NCBIChiLan1.0ChiLan1.0
ADCY3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v212101,605,337 - 101,706,428 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A101,609,330 - 101,710,392 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A24,812,729 - 24,913,539 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A24,908,108 - 25,009,163 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A24,908,108 - 25,009,163 (-)Ensemblpanpan1.1panPan2
ADCY3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11719,153,732 - 19,231,943 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1719,154,571 - 19,232,411 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1719,050,504 - 19,129,367 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01719,426,953 - 19,505,567 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1719,426,958 - 19,505,153 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11719,163,469 - 19,242,122 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01719,172,925 - 19,251,551 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01719,212,943 - 19,298,018 (-)NCBIUU_Cfam_GSD_1.0
Adcy3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629263,506,132 - 63,589,371 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364937,250,194 - 7,335,691 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364937,250,194 - 7,333,433 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ADCY3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl3113,876,339 - 113,982,369 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.13113,875,005 - 113,969,053 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.23121,107,146 - 121,199,908 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ADCY3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11482,752,786 - 82,858,727 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1482,753,177 - 82,859,415 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604529,309,587 - 29,414,423 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Adcy3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247387,163,354 - 7,249,190 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247387,163,189 - 7,249,249 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ADCY3
501 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2p25.3-23.1(chr2:30141-31766749)x3 copy number gain See cases [RCV000052929] Chr2:30141..31766749 [GRCh38]
Chr2:30141..31991818 [GRCh37]
Chr2:20141..31845322 [NCBI36]
Chr2:2p25.3-23.1		 pathogenic
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1		 pathogenic
NM_004036.5(ADCY3):c.1197-21_1197-19del deletion not provided [RCV002127157] Chr2:24840050..24840052 [GRCh38]
Chr2:25062919..25062921 [GRCh37]
Chr2:2p23.3		 benign
GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3 copy number gain See cases [RCV000135398] Chr2:30341..28419664 [GRCh38]
Chr2:30341..28642531 [GRCh37]
Chr2:20341..28496035 [NCBI36]
Chr2:2p25.3-23.2		 pathogenic
GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3 copy number gain See cases [RCV000137344] Chr2:17019..26318846 [GRCh38]
Chr2:17019..26541714 [GRCh37]
Chr2:7019..26395218 [NCBI36]
Chr2:2p25.3-23.3		 pathogenic
GRCh38/hg38 2p23.3(chr2:24732367-24876531)x3 copy number gain See cases [RCV000141349] Chr2:24732367..24876531 [GRCh38]
Chr2:24955236..25099400 [GRCh37]
Chr2:24808740..24952904 [NCBI36]
Chr2:2p23.3		 uncertain significance
GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3 copy number gain See cases [RCV000141829] Chr2:12770..33711509 [GRCh38]
Chr2:12770..33936576 [GRCh37]
Chr2:2770..33790080 [NCBI36]
Chr2:2p25.3-22.3		 pathogenic
GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3 copy number gain See cases [RCV000141877] Chr2:12770..25039694 [GRCh38]
Chr2:12770..25262563 [GRCh37]
Chr2:2770..25116067 [NCBI36]
Chr2:2p25.3-23.3		 pathogenic
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2		 benign
GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1 copy number loss See cases [RCV000142071] Chr2:22579652..28525186 [GRCh38]
Chr2:22802524..28748053 [GRCh37]
Chr2:22656029..28601557 [NCBI36]
Chr2:2p24.1-23.2		 pathogenic
GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 copy number gain See cases [RCV000143682] Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21		 pathogenic
NM_004036.5(ADCY3):c.2433-1G>A single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 [RCV000585736] Chr2:24827609 [GRCh38]
Chr2:25050478 [GRCh37]
Chr2:2p23.3		 risk factor
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_004036.5(ADCY3):c.1268del (p.Gly423fs) deletion BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 [RCV000585693] Chr2:24839960 [GRCh38]
Chr2:25062829 [GRCh37]
Chr2:2p23.3		 risk factor
NM_004036.5(ADCY3):c.3315del (p.Ile1106fs) deletion BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 [RCV000585664] Chr2:24820052 [GRCh38]
Chr2:25042921 [GRCh37]
Chr2:2p23.3		 risk factor
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p23.3(chr2:24235780-25700427)x1 copy number loss not provided [RCV000509286] Chr2:24235780..25700427 [GRCh37]
Chr2:2p23.3		 not provided
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_004036.5(ADCY3):c.2578-1G>A single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 [RCV000585729] Chr2:24824537 [GRCh38]
Chr2:25047406 [GRCh37]
Chr2:2p23.3		 risk factor
NM_004036.5(ADCY3):c.1974G>A (p.Met658Ile) single nucleotide variant Inborn genetic diseases [RCV003267030] Chr2:24831743 [GRCh38]
Chr2:25054612 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.3348CTT[2] (p.Phe1118del) microsatellite ADCY3-related disorder [RCV004748831]|BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 [RCV000585672] Chr2:24820011..24820013 [GRCh38]
Chr2:25042880..25042882 [GRCh37]
Chr2:2p23.3		 risk factor|uncertain significance
GRCh37/hg19 2p23.3(chr2:24807000-25700000)x3 copy number gain Seizure [RCV000677197] Chr2:24807000..25700000 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh37/hg19 2p23.3(chr2:24315204-26384655)x3 copy number gain not provided [RCV000682143] Chr2:24315204..26384655 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh37/hg19 2p24.1-16.3(chr2:22665048-52850368)x3 copy number gain not provided [RCV000752875] Chr2:22665048..52850368 [GRCh37]
Chr2:2p24.1-16.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3 copy number gain not provided [RCV001532444] Chr2:24881528..43460021 [GRCh37]
Chr2:2p23.3-21		 likely pathogenic
NM_004036.5(ADCY3):c.327C>T (p.Ala109=) single nucleotide variant ADCY3-related disorder [RCV003978054]|not provided [RCV000923999]|not specified [RCV001818880] Chr2:24918661 [GRCh38]
Chr2:25141530 [GRCh37]
Chr2:2p23.3		 benign|likely benign
NM_004036.5(ADCY3):c.2753C>T (p.Thr918Met) single nucleotide variant Inborn genetic diseases [RCV003246424] Chr2:24823339 [GRCh38]
Chr2:25046208 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2754G>A (p.Thr918=) single nucleotide variant ADCY3-related disorder [RCV003913297]|not provided [RCV000950079] Chr2:24823338 [GRCh38]
Chr2:25046207 [GRCh37]
Chr2:2p23.3		 benign|likely benign
NM_004036.5(ADCY3):c.1593C>T (p.Thr531=) single nucleotide variant not provided [RCV000896368]|not specified [RCV001818718] Chr2:24836986 [GRCh38]
Chr2:25059855 [GRCh37]
Chr2:2p23.3		 benign
NM_004036.5(ADCY3):c.2495+8C>T single nucleotide variant not provided [RCV000896367]|not specified [RCV001818717] Chr2:24827538 [GRCh38]
Chr2:25050407 [GRCh37]
Chr2:2p23.3		 benign
NM_004036.5(ADCY3):c.63C>T (p.Ser21=) single nucleotide variant not provided [RCV000897336] Chr2:24918925 [GRCh38]
Chr2:25141794 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1342G>A (p.Gly448Ser) single nucleotide variant Inborn genetic diseases [RCV003249528] Chr2:24839886 [GRCh38]
Chr2:25062755 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1967+15G>A single nucleotide variant not provided [RCV003106350] Chr2:24834470 [GRCh38]
Chr2:25057339 [GRCh37]
Chr2:2p23.3		 benign
NM_004036.5(ADCY3):c.2517G>A (p.Lys839=) single nucleotide variant not provided [RCV003106711] Chr2:24826105 [GRCh38]
Chr2:25048974 [GRCh37]
Chr2:2p23.3		 likely benign
GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3 copy number gain See cases [RCV001581099] Chr2:24601818..43466284 [GRCh37]
Chr2:2p23.3-21		 pathogenic
NM_004036.5(ADCY3):c.3096C>T (p.Asn1032=) single nucleotide variant ADCY3-related disorder [RCV003970770]|not provided [RCV000954857] Chr2:24821548 [GRCh38]
Chr2:25044417 [GRCh37]
Chr2:2p23.3		 benign|likely benign
NM_004036.5(ADCY3):c.1050C>G (p.Arg350=) single nucleotide variant not provided [RCV000948592] Chr2:24841574 [GRCh38]
Chr2:25064443 [GRCh37]
Chr2:2p23.3		 benign
NM_004036.5(ADCY3):c.3230C>T (p.Thr1077Met) single nucleotide variant Inborn genetic diseases [RCV003253584] Chr2:24820746 [GRCh38]
Chr2:25043615 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2308C>T (p.Gln770Ter) single nucleotide variant not provided [RCV004819133] Chr2:24828026 [GRCh38]
Chr2:25050895 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.290C>T (p.Ala97Val) single nucleotide variant not provided [RCV004819157] Chr2:24918698 [GRCh38]
Chr2:25141567 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh37/hg19 2p23.3(chr2:24710112-25987357)x1 copy number loss not provided [RCV001005236] Chr2:24710112..25987357 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p24.1-23.3(chr2:22439520-25608211)x1 copy number loss 2p24.1p23.3 microdeletion syndrome [RCV002247168] Chr2:22439520..25608211 [GRCh37]
Chr2:2p24.1-23.3		 pathogenic|likely pathogenic
NM_004036.5(ADCY3):c.3024G>C (p.Glu1008Asp) single nucleotide variant Inherited obesity [RCV004818541] Chr2:24821620 [GRCh38]
Chr2:25044489 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1235G>T (p.Arg412Leu) single nucleotide variant Inherited obesity [RCV004818542] Chr2:24839993 [GRCh38]
Chr2:25062862 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_004036.5(ADCY3):c.1534G>A (p.Ala512Thr) single nucleotide variant ADCY3-related disorder [RCV003948797]|not provided [RCV001910967] Chr2:24837045 [GRCh38]
Chr2:25059914 [GRCh37]
Chr2:2p23.3		 uncertain significance
NC_000002.11:g.(?_24443763)_(27746306_?)dup duplication Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001911738] Chr2:24443763..27746306 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.3400G>A (p.Val1134Ile) single nucleotide variant not provided [RCV001960161] Chr2:24819967 [GRCh38]
Chr2:25042836 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1513C>G (p.Gln505Glu) single nucleotide variant not provided [RCV001904524] Chr2:24838465 [GRCh38]
Chr2:25061334 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.100C>G (p.Arg34Gly) single nucleotide variant not provided [RCV001920270] Chr2:24918888 [GRCh38]
Chr2:25141757 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.775C>T (p.Arg259Cys) single nucleotide variant ADCY3-related disorder [RCV004749772]|not provided [RCV001898457] Chr2:24872620 [GRCh38]
Chr2:25095489 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.3390T>C (p.Asn1130=) single nucleotide variant ADCY3-related disorder [RCV003978614]|not provided [RCV002085700] Chr2:24819977 [GRCh38]
Chr2:25042846 [GRCh37]
Chr2:2p23.3		 benign|likely benign
NM_004036.5(ADCY3):c.582C>T (p.Ser194=) single nucleotide variant not provided [RCV002128747] Chr2:24918406 [GRCh38]
Chr2:25141275 [GRCh37]
Chr2:2p23.3		 benign
NM_004036.5(ADCY3):c.1805+19C>T single nucleotide variant not provided [RCV002205179] Chr2:24834775 [GRCh38]
Chr2:25057644 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.423C>T (p.Tyr141=) single nucleotide variant not provided [RCV002206469] Chr2:24918565 [GRCh38]
Chr2:25141434 [GRCh37]
Chr2:2p23.3		 benign
NM_004036.5(ADCY3):c.1967+14C>T single nucleotide variant not provided [RCV002129193] Chr2:24834471 [GRCh38]
Chr2:25057340 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2430C>T (p.His810=) single nucleotide variant ADCY3-related disorder [RCV003968702]|not provided [RCV002092306] Chr2:24827904 [GRCh38]
Chr2:25050773 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2406C>T (p.Tyr802=) single nucleotide variant ADCY3-related disorder [RCV003923790]|not provided [RCV002153648] Chr2:24827928 [GRCh38]
Chr2:25050797 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1341C>T (p.Ala447=) single nucleotide variant not provided [RCV002132305] Chr2:24839887 [GRCh38]
Chr2:25062756 [GRCh37]
Chr2:2p23.3		 benign|likely benign
NM_004036.5(ADCY3):c.3141C>T (p.Gly1047=) single nucleotide variant ADCY3-related disorder [RCV003971062]|not provided [RCV002130706] Chr2:24820835 [GRCh38]
Chr2:25043704 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2871A>G (p.Ser957=) single nucleotide variant not provided [RCV002134213] Chr2:24823221 [GRCh38]
Chr2:25046090 [GRCh37]
Chr2:2p23.3		 benign
NM_004036.5(ADCY3):c.2529G>A (p.Thr843=) single nucleotide variant ADCY3-related disorder [RCV003913717]|not provided [RCV002115918] Chr2:24826093 [GRCh38]
Chr2:25048962 [GRCh37]
Chr2:2p23.3		 benign|likely benign
NM_004036.5(ADCY3):c.319T>C (p.Ser107Pro) single nucleotide variant not provided [RCV002172439] Chr2:24918669 [GRCh38]
Chr2:25141538 [GRCh37]
Chr2:2p23.3		 benign
NM_004036.5(ADCY3):c.956+19C>T single nucleotide variant not provided [RCV002201653] Chr2:24842235 [GRCh38]
Chr2:25065104 [GRCh37]
Chr2:2p23.3		 benign
NM_004036.5(ADCY3):c.766C>T (p.Leu256=) single nucleotide variant not provided [RCV002163626] Chr2:24872629 [GRCh38]
Chr2:25095498 [GRCh37]
Chr2:2p23.3		 benign
NM_004036.5(ADCY3):c.606G>A (p.Thr202=) single nucleotide variant not provided [RCV002099387] Chr2:24918382 [GRCh38]
Chr2:25141251 [GRCh37]
Chr2:2p23.3		 benign
NM_004036.5(ADCY3):c.2578-3T>C single nucleotide variant not provided [RCV002122757] Chr2:24824539 [GRCh38]
Chr2:25047408 [GRCh37]
Chr2:2p23.3		 benign
NM_004036.5(ADCY3):c.2226A>G (p.Glu742=) single nucleotide variant not provided [RCV002179445] Chr2:24828108 [GRCh38]
Chr2:25050977 [GRCh37]
Chr2:2p23.3		 benign
NM_004036.5(ADCY3):c.675+11709T>C single nucleotide variant not provided [RCV002220971] Chr2:24906604 [GRCh38]
Chr2:25129473 [GRCh37]
Chr2:2p23.3		 benign
NM_004036.5(ADCY3):c.2495+12G>A single nucleotide variant not provided [RCV002176451] Chr2:24827534 [GRCh38]
Chr2:25050403 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1167C>G (p.Leu389=) single nucleotide variant not provided [RCV002136743] Chr2:24841288 [GRCh38]
Chr2:25064157 [GRCh37]
Chr2:2p23.3		 benign
NM_004036.5(ADCY3):c.1131C>T (p.Pro377=) single nucleotide variant not provided [RCV002160112] Chr2:24841324 [GRCh38]
Chr2:25064193 [GRCh37]
Chr2:2p23.3		 benign
NM_004036.5(ADCY3):c.3127+12C>T single nucleotide variant not provided [RCV002184645] Chr2:24821505 [GRCh38]
Chr2:25044374 [GRCh37]
Chr2:2p23.3		 benign
NC_000002.11:g.(?_24443763)_(26029226_?)del deletion Tatton-Brown-Rahman overgrowth syndrome [RCV003113869] Chr2:24443763..26029226 [GRCh37]
Chr2:2p23.3		 pathogenic
NC_000002.11:g.(?_24443763)_(29022169_?)dup duplication Tatton-Brown-Rahman overgrowth syndrome [RCV003113871]|not provided [RCV003113870] Chr2:24443763..29022169 [GRCh37]
Chr2:2p23.3-23.2		 uncertain significance|no classifications from unflagged records
NC_000002.11:g.(?_24443763)_(30143525_?)dup duplication not provided [RCV003113441] Chr2:24443763..30143525 [GRCh37]
Chr2:2p23.3-23.1		 uncertain significance
GRCh37/hg19 2p23.3(chr2:24641638-26473160)x1 copy number loss Tatton-Brown-Rahman overgrowth syndrome [RCV002276513] Chr2:24641638..26473160 [GRCh37]
Chr2:2p23.3		 not provided
GRCh37/hg19 2p23.3(chr2:24653863-25574264)x1 copy number loss not provided [RCV002265531] Chr2:24653863..25574264 [GRCh37]
Chr2:2p23.3		 not provided
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 copy number loss See cases [RCV002287563] Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13		 pathogenic
GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3 copy number gain not provided [RCV002473946] Chr2:706460..35523639 [GRCh37]
Chr2:2p25.3-22.3		 pathogenic
NM_004036.5(ADCY3):c.2526G>A (p.Met842Ile) single nucleotide variant not provided [RCV002903399] Chr2:24826096 [GRCh38]
Chr2:25048965 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.776G>A (p.Arg259His) single nucleotide variant ADCY3-related disorder [RCV004750322]|Inborn genetic diseases [RCV002817524] Chr2:24872619 [GRCh38]
Chr2:25095488 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.346G>A (p.Val116Met) single nucleotide variant Inborn genetic diseases [RCV002860150] Chr2:24918642 [GRCh38]
Chr2:25141511 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1634C>T (p.Ser545Leu) single nucleotide variant ADCY3-related disorder [RCV003906629]|Inborn genetic diseases [RCV002729881] Chr2:24836945 [GRCh38]
Chr2:25059814 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2883+1G>C single nucleotide variant not provided [RCV002751077] Chr2:24823208 [GRCh38]
Chr2:25046077 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_004036.5(ADCY3):c.867C>T (p.Asp289=) single nucleotide variant ADCY3-related disorder [RCV004750230]|not provided [RCV002975433] Chr2:24842343 [GRCh38]
Chr2:25065212 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.211A>G (p.Lys71Glu) single nucleotide variant ADCY3-related disorder [RCV003395641]|Inborn genetic diseases [RCV002753132] Chr2:24918777 [GRCh38]
Chr2:25141646 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.716T>C (p.Val239Ala) single nucleotide variant not provided [RCV003039232] Chr2:24872679 [GRCh38]
Chr2:25095548 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2042C>A (p.Ala681Asp) single nucleotide variant ADCY3-related disorder [RCV003420532]|Inborn genetic diseases [RCV002759451] Chr2:24831675 [GRCh38]
Chr2:25054544 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2884-18C>A single nucleotide variant not provided [RCV002572147] Chr2:24822648 [GRCh38]
Chr2:25045517 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2417G>A (p.Arg806His) single nucleotide variant ADCY3-related disorder [RCV003418647]|not provided [RCV002927127] Chr2:24827917 [GRCh38]
Chr2:25050786 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1959C>T (p.Ile653=) single nucleotide variant not provided [RCV002948563] Chr2:24834493 [GRCh38]
Chr2:25057362 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2496-15C>T single nucleotide variant not provided [RCV002781411] Chr2:24826141 [GRCh38]
Chr2:25049010 [GRCh37]
Chr2:2p23.3		 benign
NM_004036.5(ADCY3):c.536T>C (p.Phe179Ser) single nucleotide variant ADCY3-related disorder [RCV003403909]|not provided [RCV002785315] Chr2:24918452 [GRCh38]
Chr2:25141321 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2652G>A (p.Met884Ile) single nucleotide variant Inborn genetic diseases [RCV002705173] Chr2:24824462 [GRCh38]
Chr2:25047331 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2540T>G (p.Phe847Cys) single nucleotide variant ADCY3-related disorder [RCV004750343]|Inborn genetic diseases [RCV002759156] Chr2:24826082 [GRCh38]
Chr2:25048951 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1396G>C (p.Gly466Arg) single nucleotide variant Inborn genetic diseases [RCV002984984] Chr2:24838582 [GRCh38]
Chr2:25061451 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.3127+11C>G single nucleotide variant not provided [RCV002791108] Chr2:24821506 [GRCh38]
Chr2:25044375 [GRCh37]
Chr2:2p23.3		 benign
NM_004036.5(ADCY3):c.400G>T (p.Val134Phe) single nucleotide variant not provided [RCV002666793] Chr2:24918588 [GRCh38]
Chr2:25141457 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.478G>A (p.Ala160Thr) single nucleotide variant Inborn genetic diseases [RCV002788249] Chr2:24918510 [GRCh38]
Chr2:25141379 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2723A>C (p.Lys908Thr) single nucleotide variant ADCY3-related disorder [RCV003918961]|Inborn genetic diseases [RCV002742555] Chr2:24824391 [GRCh38]
Chr2:25047260 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1068+16C>T single nucleotide variant not provided [RCV002790155] Chr2:24841540 [GRCh38]
Chr2:25064409 [GRCh37]
Chr2:2p23.3		 benign
NM_004036.5(ADCY3):c.1246C>T (p.His416Tyr) single nucleotide variant not provided [RCV003040357] Chr2:24839982 [GRCh38]
Chr2:25062851 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2432+13G>A single nucleotide variant not provided [RCV002800887] Chr2:24827889 [GRCh38]
Chr2:25050758 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2440A>G (p.Met814Val) single nucleotide variant Inborn genetic diseases [RCV002746958] Chr2:24827601 [GRCh38]
Chr2:25050470 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.619G>A (p.Val207Ile) single nucleotide variant ADCY3-related disorder [RCV003961302]|not provided [RCV002962072] Chr2:24918369 [GRCh38]
Chr2:25141238 [GRCh37]
Chr2:2p23.3		 benign|likely benign
NM_004036.5(ADCY3):c.1806-4G>T single nucleotide variant not provided [RCV002716756] Chr2:24834650 [GRCh38]
Chr2:25057519 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2978C>G (p.Thr993Ser) single nucleotide variant Inborn genetic diseases [RCV002808538] Chr2:24822536 [GRCh38]
Chr2:25045405 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2577C>T (p.His859=) single nucleotide variant ADCY3-related disorder [RCV004750272]|not provided [RCV003088585] Chr2:24826045 [GRCh38]
Chr2:25048914 [GRCh37]
Chr2:2p23.3		 likely benign|uncertain significance
NM_004036.5(ADCY3):c.1035C>T (p.Asn345=) single nucleotide variant ADCY3-related disorder [RCV003916562]|not provided [RCV002899875] Chr2:24841589 [GRCh38]
Chr2:25064458 [GRCh37]
Chr2:2p23.3		 benign|likely benign
NM_004036.5(ADCY3):c.2056-10T>C single nucleotide variant not provided [RCV003060606] Chr2:24830835 [GRCh38]
Chr2:25053704 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.831C>T (p.Asn277=) single nucleotide variant not provided [RCV003090512] Chr2:24842379 [GRCh38]
Chr2:25065248 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.739G>T (p.Ala247Ser) single nucleotide variant ADCY3-related disorder [RCV004750327]|Inborn genetic diseases [RCV002878925] Chr2:24872656 [GRCh38]
Chr2:25095525 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.129G>C (p.Ser43=) single nucleotide variant not provided [RCV002585868] Chr2:24918859 [GRCh38]
Chr2:25141728 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1564A>C (p.Lys522Gln) single nucleotide variant not provided [RCV002653424] Chr2:24837015 [GRCh38]
Chr2:25059884 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2567T>A (p.Phe856Tyr) single nucleotide variant Inborn genetic diseases [RCV002722343] Chr2:24826055 [GRCh38]
Chr2:25048924 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2195C>T (p.Thr732Met) single nucleotide variant Inborn genetic diseases [RCV003296572] Chr2:24828139 [GRCh38]
Chr2:25051008 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh37/hg19 2p23.3(chr2:24962301-26257604)x1 copy number loss not provided [RCV003223075] Chr2:24962301..26257604 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.3122G>A (p.Arg1041His) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 [RCV003142323] Chr2:24821522 [GRCh38]
Chr2:25044391 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1656T>A (p.Asp552Glu) single nucleotide variant ADCY3-related disorder [RCV003946476]|Inborn genetic diseases [RCV003260485] Chr2:24836923 [GRCh38]
Chr2:25059792 [GRCh37]
Chr2:2p23.3		 likely benign|uncertain significance
NM_004036.5(ADCY3):c.2056-13_2056-12del deletion BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 [RCV003142432] Chr2:24830837..24830838 [GRCh38]
Chr2:25053706..25053707 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.675+7C>T single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 [RCV003142451] Chr2:24918306 [GRCh38]
Chr2:25141175 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1937C>T (p.Thr646Met) single nucleotide variant Inborn genetic diseases [RCV003265350] Chr2:24834515 [GRCh38]
Chr2:25057384 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1957A>C (p.Ile653Leu) single nucleotide variant Inborn genetic diseases [RCV003285645] Chr2:24834495 [GRCh38]
Chr2:25057364 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2092A>G (p.Ile698Val) single nucleotide variant Inborn genetic diseases [RCV003357440] Chr2:24830789 [GRCh38]
Chr2:25053658 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.355A>G (p.Ile119Val) single nucleotide variant ADCY3-related disorder [RCV004723290]|Inborn genetic diseases [RCV003372113]|not provided [RCV005104174] Chr2:24918633 [GRCh38]
Chr2:25141502 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1867C>T (p.Arg623Cys) single nucleotide variant ADCY3-related disorder [RCV003420965] Chr2:24834585 [GRCh38]
Chr2:25057454 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.179A>G (p.Glu60Gly) single nucleotide variant Inborn genetic diseases [RCV003367623] Chr2:24918809 [GRCh38]
Chr2:25141678 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1223G>A (p.Gly408Glu) single nucleotide variant ADCY3-related disorder [RCV003419103] Chr2:24840005 [GRCh38]
Chr2:25062874 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.407G>A (p.Arg136His) single nucleotide variant ADCY3-related disorder [RCV003429085]|Inborn genetic diseases [RCV004614429] Chr2:24918581 [GRCh38]
Chr2:25141450 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1696A>G (p.Arg566Gly) single nucleotide variant ADCY3-related disorder [RCV003429110]|Inborn genetic diseases [RCV004978854] Chr2:24834903 [GRCh38]
Chr2:25057772 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1840C>T (p.Arg614Trp) single nucleotide variant ADCY3-related disorder [RCV003420835] Chr2:24834612 [GRCh38]
Chr2:25057481 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2213C>T (p.Thr738Met) single nucleotide variant ADCY3-related disorder [RCV003408632] Chr2:24828121 [GRCh38]
Chr2:25050990 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1553C>G (p.Pro518Arg) single nucleotide variant ADCY3-related disorder [RCV003402850] Chr2:24837026 [GRCh38]
Chr2:25059895 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.583G>A (p.Val195Met) single nucleotide variant ADCY3-related disorder [RCV003405767] Chr2:24918405 [GRCh38]
Chr2:25141274 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1153G>A (p.Val385Ile) single nucleotide variant ADCY3-related disorder [RCV003405960] Chr2:24841302 [GRCh38]
Chr2:25064171 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1222G>A (p.Gly408Arg) single nucleotide variant ADCY3-related disorder [RCV003394478] Chr2:24840006 [GRCh38]
Chr2:25062875 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1367T>C (p.Ile456Thr) single nucleotide variant not provided [RCV004819153] Chr2:24838611 [GRCh38]
Chr2:25061480 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1420G>A (p.Asp474Asn) single nucleotide variant ADCY3-related disorder [RCV003408744]|Inborn genetic diseases [RCV004614427] Chr2:24838558 [GRCh38]
Chr2:25061427 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2496-13C>T single nucleotide variant ADCY3-related disorder [RCV003397647] Chr2:24826139 [GRCh38]
Chr2:25049008 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1036G>A (p.Glu346Lys) single nucleotide variant ADCY3-related disorder [RCV003412275] Chr2:24841588 [GRCh38]
Chr2:25064457 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.746G>A (p.Arg249His) single nucleotide variant ADCY3-related disorder [RCV003412351] Chr2:24872649 [GRCh38]
Chr2:25095518 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1532C>T (p.Ser511Leu) single nucleotide variant ADCY3-related disorder [RCV003412362]|not provided [RCV003689077] Chr2:24838446 [GRCh38]
Chr2:25061315 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2665G>A (p.Glu889Lys) single nucleotide variant ADCY3-related disorder [RCV003414201] Chr2:24824449 [GRCh38]
Chr2:25047318 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2423G>A (p.Arg808Gln) single nucleotide variant ADCY3-related disorder [RCV003414299]|Inborn genetic diseases [RCV004978842] Chr2:24827911 [GRCh38]
Chr2:25050780 [GRCh37]
Chr2:2p23.3		 likely benign|uncertain significance
NM_004036.5(ADCY3):c.133T>C (p.Ser45Pro) single nucleotide variant ADCY3-related disorder [RCV003392791] Chr2:24918855 [GRCh38]
Chr2:25141724 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.3222G>A (p.Met1074Ile) single nucleotide variant ADCY3-related disorder [RCV003402166] Chr2:24820754 [GRCh38]
Chr2:25043623 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1383G>A (p.Met461Ile) single nucleotide variant ADCY3-related disorder [RCV003392910] Chr2:24838595 [GRCh38]
Chr2:25061464 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.489C>G (p.His163Gln) single nucleotide variant ADCY3-related disorder [RCV003414539] Chr2:24918499 [GRCh38]
Chr2:25141368 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.754C>T (p.Arg252Cys) single nucleotide variant ADCY3-related disorder [RCV003417034] Chr2:24872641 [GRCh38]
Chr2:25095510 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2164G>A (p.Val722Met) single nucleotide variant ADCY3-related disorder [RCV003417088] Chr2:24830717 [GRCh38]
Chr2:25053586 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1270G>A (p.Val424Ile) single nucleotide variant ADCY3-related disorder [RCV003410749] Chr2:24839958 [GRCh38]
Chr2:25062827 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2392G>A (p.Val798Ile) single nucleotide variant ADCY3-related disorder [RCV003417125]|Inborn genetic diseases [RCV004362849] Chr2:24827942 [GRCh38]
Chr2:25050811 [GRCh37]
Chr2:2p23.3		 likely benign|uncertain significance
NM_004036.5(ADCY3):c.2347G>A (p.Val783Ile) single nucleotide variant ADCY3-related disorder [RCV003417134] Chr2:24827987 [GRCh38]
Chr2:25050856 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.746G>T (p.Arg249Leu) single nucleotide variant ADCY3-related disorder [RCV003417023] Chr2:24872649 [GRCh38]
Chr2:25095518 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2249A>G (p.Asn750Ser) single nucleotide variant ADCY3-related disorder [RCV003406187] Chr2:24828085 [GRCh38]
Chr2:25050954 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1691G>A (p.Arg564His) single nucleotide variant ADCY3-related disorder [RCV003417103] Chr2:24834908 [GRCh38]
Chr2:25057777 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1798G>A (p.Ala600Thr) single nucleotide variant ADCY3-related disorder [RCV003399799] Chr2:24834801 [GRCh38]
Chr2:25057670 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2196G>A (p.Thr732=) single nucleotide variant ADCY3-related disorder [RCV003402690]|not provided [RCV003720898] Chr2:24828138 [GRCh38]
Chr2:25051007 [GRCh37]
Chr2:2p23.3		 likely benign|uncertain significance
NM_004036.5(ADCY3):c.3000C>A (p.Asn1000Lys) single nucleotide variant ADCY3-related disorder [RCV003405970] Chr2:24822514 [GRCh38]
Chr2:25045383 [GRCh37]
Chr2:2p23.3		 likely benign|uncertain significance
NM_004036.5(ADCY3):c.1631C>T (p.Thr544Met) single nucleotide variant ADCY3-related disorder [RCV003420748]|Inborn genetic diseases [RCV004362778] Chr2:24836948 [GRCh38]
Chr2:25059817 [GRCh37]
Chr2:2p23.3		 likely benign|uncertain significance
NM_004036.5(ADCY3):c.712G>A (p.Ala238Thr) single nucleotide variant ADCY3-related disorder [RCV004750425]|not provided [RCV003739693] Chr2:24872683 [GRCh38]
Chr2:25095552 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2982T>C (p.Asn994=) single nucleotide variant not provided [RCV003546067] Chr2:24822532 [GRCh38]
Chr2:25045401 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1533+11C>T single nucleotide variant not provided [RCV003661223] Chr2:24838434 [GRCh38]
Chr2:25061303 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2397T>C (p.Phe799=) single nucleotide variant ADCY3-related disorder [RCV004750456]|not provided [RCV003879228] Chr2:24827937 [GRCh38]
Chr2:25050806 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1245G>A (p.Val415=) single nucleotide variant not provided [RCV003739485] Chr2:24839983 [GRCh38]
Chr2:25062852 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2423G>C (p.Arg808Pro) single nucleotide variant not provided [RCV003578097] Chr2:24827911 [GRCh38]
Chr2:25050780 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.825+12G>A single nucleotide variant not provided [RCV003877551] Chr2:24872558 [GRCh38]
Chr2:25095427 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1710G>A (p.Gln570=) single nucleotide variant ADCY3-related disorder [RCV003966486]|not provided [RCV003548695] Chr2:24834889 [GRCh38]
Chr2:25057758 [GRCh37]
Chr2:2p23.3		 benign|likely benign
NM_004036.5(ADCY3):c.1923C>A (p.Val641=) single nucleotide variant not provided [RCV003834010] Chr2:24834529 [GRCh38]
Chr2:25057398 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2173-14G>A single nucleotide variant not provided [RCV003811278] Chr2:24828175 [GRCh38]
Chr2:25051044 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1362G>A (p.Val454=) single nucleotide variant not provided [RCV003724691] Chr2:24838616 [GRCh38]
Chr2:25061485 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.372C>G (p.Leu124=) single nucleotide variant ADCY3-related disorder [RCV003984410]|not provided [RCV003697124] Chr2:24918616 [GRCh38]
Chr2:25141485 [GRCh37]
Chr2:2p23.3		 benign|likely benign
NM_004036.5(ADCY3):c.1836C>T (p.Ser612=) single nucleotide variant ADCY3-related disorder [RCV004750387]|not provided [RCV003559458] Chr2:24834616 [GRCh38]
Chr2:25057485 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.3252+5G>T single nucleotide variant ADCY3-related disorder [RCV003901229]|not provided [RCV003669456] Chr2:24820719 [GRCh38]
Chr2:25043588 [GRCh37]
Chr2:2p23.3		 likely benign|uncertain significance
NM_004036.5(ADCY3):c.1068+17G>A single nucleotide variant not provided [RCV003852445] Chr2:24841539 [GRCh38]
Chr2:25064408 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.90C>T (p.Arg30=) single nucleotide variant ADCY3-related disorder [RCV003939097]|not provided [RCV003559196] Chr2:24918898 [GRCh38]
Chr2:25141767 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.232C>T (p.Leu78=) single nucleotide variant not provided [RCV003676698] Chr2:24918756 [GRCh38]
Chr2:25141625 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1815G>A (p.Lys605=) single nucleotide variant ADCY3-related disorder [RCV004750445]|not provided [RCV003843773] Chr2:24834637 [GRCh38]
Chr2:25057506 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1069-14C>T single nucleotide variant not provided [RCV003862782] Chr2:24841400 [GRCh38]
Chr2:25064269 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2495+11C>T single nucleotide variant not provided [RCV003822942] Chr2:24827535 [GRCh38]
Chr2:25050404 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.480G>C (p.Ala160=) single nucleotide variant ADCY3-related disorder [RCV003919294]|not provided [RCV003562904] Chr2:24918508 [GRCh38]
Chr2:25141377 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.495T>C (p.Ala165=) single nucleotide variant not provided [RCV003675474] Chr2:24918493 [GRCh38]
Chr2:25141362 [GRCh37]
Chr2:2p23.3		 benign
NM_004036.5(ADCY3):c.1134C>T (p.Asp378=) single nucleotide variant ADCY3-related disorder [RCV003929234]|not provided [RCV003551154] Chr2:24841321 [GRCh38]
Chr2:25064190 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1948G>A (p.Glu650Lys) single nucleotide variant not provided [RCV003719722] Chr2:24834504 [GRCh38]
Chr2:25057373 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2079C>G (p.Ala693=) single nucleotide variant ADCY3-related disorder [RCV003941434] Chr2:24830802 [GRCh38]
Chr2:25053671 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.3235G>A (p.Val1079Ile) single nucleotide variant ADCY3-related disorder [RCV003939797]|not provided [RCV005101812] Chr2:24820741 [GRCh38]
Chr2:25043610 [GRCh37]
Chr2:2p23.3		 likely benign|uncertain significance
NM_004036.5(ADCY3):c.1875G>A (p.Ser625=) single nucleotide variant ADCY3-related disorder [RCV003941506] Chr2:24834577 [GRCh38]
Chr2:25057446 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1196C>T (p.Ser399Leu) single nucleotide variant ADCY3-related disorder [RCV003941569] Chr2:24841259 [GRCh38]
Chr2:25064128 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2424G>A (p.Arg808=) single nucleotide variant ADCY3-related disorder [RCV003941606] Chr2:24827910 [GRCh38]
Chr2:25050779 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2432+11G>A single nucleotide variant not provided [RCV003868511] Chr2:24827891 [GRCh38]
Chr2:25050760 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.328G>A (p.Val110Met) single nucleotide variant ADCY3-related disorder [RCV003919257]|not provided [RCV003552043] Chr2:24918660 [GRCh38]
Chr2:25141529 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1890G>T (p.Lys630Asn) single nucleotide variant Inborn genetic diseases [RCV004368440] Chr2:24834562 [GRCh38]
Chr2:25057431 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2756A>G (p.Tyr919Cys) single nucleotide variant Inborn genetic diseases [RCV004370945] Chr2:24823336 [GRCh38]
Chr2:25046205 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.3289G>A (p.Gly1097Ser) single nucleotide variant ADCY3-related disorder [RCV004750460]|Inborn genetic diseases [RCV004370960] Chr2:24820078 [GRCh38]
Chr2:25042947 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1586T>C (p.Ile529Thr) single nucleotide variant Inborn genetic diseases [RCV004368409] Chr2:24836993 [GRCh38]
Chr2:25059862 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1961A>G (p.Asp654Gly) single nucleotide variant Inborn genetic diseases [RCV004368458] Chr2:24834491 [GRCh38]
Chr2:25057360 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1077C>T (p.His359=) single nucleotide variant ADCY3-related disorder [RCV003894073] Chr2:24841378 [GRCh38]
Chr2:25064247 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.3023A>C (p.Glu1008Ala) single nucleotide variant ADCY3-related disorder [RCV003894201] Chr2:24821621 [GRCh38]
Chr2:25044490 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1300G>A (p.Val434Met) single nucleotide variant ADCY3-related disorder [RCV003901638] Chr2:24839928 [GRCh38]
Chr2:25062797 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2643C>T (p.Val881=) single nucleotide variant ADCY3-related disorder [RCV003901917] Chr2:24824471 [GRCh38]
Chr2:25047340 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1362G>C (p.Val454=) single nucleotide variant ADCY3-related disorder [RCV003901959] Chr2:24838616 [GRCh38]
Chr2:25061485 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.3052G>A (p.Asp1018Asn) single nucleotide variant Inborn genetic diseases [RCV004370950] Chr2:24821592 [GRCh38]
Chr2:25044461 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.3352T>G (p.Phe1118Val) single nucleotide variant Inborn genetic diseases [RCV004370966] Chr2:24820015 [GRCh38]
Chr2:25042884 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.341G>T (p.Gly114Val) single nucleotide variant Inborn genetic diseases [RCV004370971] Chr2:24918647 [GRCh38]
Chr2:25141516 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3 copy number gain See cases [RCV004442780] Chr2:12771..35541353 [GRCh37]
Chr2:2p25.3-22.3		 pathogenic
NM_004036.5(ADCY3):c.2005A>G (p.Ile669Val) single nucleotide variant Inborn genetic diseases [RCV004368465] Chr2:24831712 [GRCh38]
Chr2:25054581 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2429A>G (p.His810Arg) single nucleotide variant Inborn genetic diseases [RCV004370929] Chr2:24827905 [GRCh38]
Chr2:25050774 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.480G>A (p.Ala160=) single nucleotide variant ADCY3-related disorder [RCV003906971] Chr2:24918508 [GRCh38]
Chr2:25141377 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1407T>G (p.Asp469Glu) single nucleotide variant ADCY3-related disorder [RCV003907271] Chr2:24838571 [GRCh38]
Chr2:25061440 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.3078G>A (p.Thr1026=) single nucleotide variant ADCY3-related disorder [RCV003894239]|not provided [RCV005064738] Chr2:24821566 [GRCh38]
Chr2:25044435 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1257C>T (p.Thr419=) single nucleotide variant ADCY3-related disorder [RCV003949775] Chr2:24839971 [GRCh38]
Chr2:25062840 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.444C>A (p.Thr148=) single nucleotide variant ADCY3-related disorder [RCV003901703] Chr2:24918544 [GRCh38]
Chr2:25141413 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2598A>G (p.Thr866=) single nucleotide variant ADCY3-related disorder [RCV003961969] Chr2:24824516 [GRCh38]
Chr2:25047385 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1206G>A (p.Arg402=) single nucleotide variant ADCY3-related disorder [RCV003909308] Chr2:24840022 [GRCh38]
Chr2:25062891 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2118C>T (p.Asn706=) single nucleotide variant ADCY3-related disorder [RCV003962165] Chr2:24830763 [GRCh38]
Chr2:25053632 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.956+7C>T single nucleotide variant ADCY3-related disorder [RCV003911523]|not provided [RCV005101643] Chr2:24842247 [GRCh38]
Chr2:25065116 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1356-19CT[6] microsatellite ADCY3-related disorder [RCV003981722] Chr2:24838631..24838632 [GRCh38]
Chr2:25061500..25061501 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2214G>A (p.Thr738=) single nucleotide variant ADCY3-related disorder [RCV003964567] Chr2:24828120 [GRCh38]
Chr2:25050989 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.612C>G (p.Val204=) single nucleotide variant ADCY3-related disorder [RCV003911731] Chr2:24918376 [GRCh38]
Chr2:25141245 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2484T>C (p.Asn828=) single nucleotide variant ADCY3-related disorder [RCV003969744] Chr2:24827557 [GRCh38]
Chr2:25050426 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1805+6C>T single nucleotide variant ADCY3-related disorder [RCV003921520] Chr2:24834788 [GRCh38]
Chr2:25057657 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2055+7G>A single nucleotide variant ADCY3-related disorder [RCV003898910]|not provided [RCV005101515] Chr2:24831655 [GRCh38]
Chr2:25054524 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.237G>C (p.Leu79=) single nucleotide variant ADCY3-related disorder [RCV003899054] Chr2:24918751 [GRCh38]
Chr2:25141620 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.438C>T (p.Leu146=) single nucleotide variant ADCY3-related disorder [RCV003912010] Chr2:24918550 [GRCh38]
Chr2:25141419 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2802C>T (p.Asp934=) single nucleotide variant ADCY3-related disorder [RCV003936956] Chr2:24823290 [GRCh38]
Chr2:25046159 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1923C>T (p.Val641=) single nucleotide variant ADCY3-related disorder [RCV003937051] Chr2:24834529 [GRCh38]
Chr2:25057398 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.3015C>T (p.Ser1005=) single nucleotide variant ADCY3-related disorder [RCV003956672] Chr2:24821629 [GRCh38]
Chr2:25044498 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2551C>G (p.Leu851Val) single nucleotide variant ADCY3-related disorder [RCV003921516] Chr2:24826071 [GRCh38]
Chr2:25048940 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1663-5C>T single nucleotide variant ADCY3-related disorder [RCV003921629] Chr2:24834941 [GRCh38]
Chr2:25057810 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.3307C>A (p.Arg1103=) single nucleotide variant ADCY3-related disorder [RCV003937330] Chr2:24820060 [GRCh38]
Chr2:25042929 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2577+10G>A single nucleotide variant ADCY3-related disorder [RCV003894331] Chr2:24826035 [GRCh38]
Chr2:25048904 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1805+7G>A single nucleotide variant ADCY3-related disorder [RCV003971637] Chr2:24834787 [GRCh38]
Chr2:25057656 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.969C>T (p.Ala323=) single nucleotide variant ADCY3-related disorder [RCV003972000] Chr2:24841655 [GRCh38]
Chr2:25064524 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.3204C>T (p.Val1068=) single nucleotide variant ADCY3-related disorder [RCV003983471] Chr2:24820772 [GRCh38]
Chr2:25043641 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1251G>A (p.Thr417=) single nucleotide variant ADCY3-related disorder [RCV003914079] Chr2:24839977 [GRCh38]
Chr2:25062846 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.705C>T (p.Cys235=) single nucleotide variant ADCY3-related disorder [RCV003944205] Chr2:24872690 [GRCh38]
Chr2:25095559 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.3125T>C (p.Ile1042Thr) single nucleotide variant ADCY3-related disorder [RCV003901686] Chr2:24821519 [GRCh38]
Chr2:25044388 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2656C>T (p.Arg886Cys) single nucleotide variant ADCY3-related disorder [RCV003922168] Chr2:24824458 [GRCh38]
Chr2:25047327 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.945C>T (p.His315=) single nucleotide variant ADCY3-related disorder [RCV003904476] Chr2:24842265 [GRCh38]
Chr2:25065134 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.3114C>T (p.Phe1038=) single nucleotide variant ADCY3-related disorder [RCV003947018] Chr2:24821530 [GRCh38]
Chr2:25044399 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2967C>T (p.Pro989=) single nucleotide variant ADCY3-related disorder [RCV003979712] Chr2:24822547 [GRCh38]
Chr2:25045416 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.141G>C (p.Leu47=) single nucleotide variant ADCY3-related disorder [RCV003933911] Chr2:24918847 [GRCh38]
Chr2:25141716 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1665C>G (p.Ala555=) single nucleotide variant ADCY3-related disorder [RCV003964210] Chr2:24834934 [GRCh38]
Chr2:25057803 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1773C>T (p.Asn591=) single nucleotide variant ADCY3-related disorder [RCV003969604] Chr2:24834826 [GRCh38]
Chr2:25057695 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2201C>A (p.Pro734His) single nucleotide variant ADCY3-related disorder [RCV003912296] Chr2:24828133 [GRCh38]
Chr2:25051002 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2916C>A (p.Thr972=) single nucleotide variant ADCY3-related disorder [RCV003934060] Chr2:24822598 [GRCh38]
Chr2:25045467 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1645G>A (p.Glu549Lys) single nucleotide variant ADCY3-related disorder [RCV003899748] Chr2:24836934 [GRCh38]
Chr2:25059803 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.783G>A (p.Ser261=) single nucleotide variant ADCY3-related disorder [RCV003934203] Chr2:24872612 [GRCh38]
Chr2:25095481 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.3051C>T (p.Ala1017=) single nucleotide variant ADCY3-related disorder [RCV003903895] Chr2:24821593 [GRCh38]
Chr2:25044462 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1533G>A (p.Ser511=) single nucleotide variant ADCY3-related disorder [RCV003904048] Chr2:24838445 [GRCh38]
Chr2:25061314 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.126C>T (p.Asn42=) single nucleotide variant ADCY3-related disorder [RCV003904381] Chr2:24918862 [GRCh38]
Chr2:25141731 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.3296G>A (p.Arg1099His) single nucleotide variant ADCY3-related disorder [RCV003934342] Chr2:24820071 [GRCh38]
Chr2:25042940 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.927C>G (p.Thr309=) single nucleotide variant ADCY3-related disorder [RCV003934333] Chr2:24842283 [GRCh38]
Chr2:25065152 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2416C>T (p.Arg806Cys) single nucleotide variant ADCY3-related disorder [RCV003924056] Chr2:24827918 [GRCh38]
Chr2:25050787 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2574C>A (p.Arg858=) single nucleotide variant ADCY3-related disorder [RCV003982056]|not provided [RCV005064922] Chr2:24826048 [GRCh38]
Chr2:25048917 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1827C>T (p.Phe609=) single nucleotide variant ADCY3-related disorder [RCV003934440] Chr2:24834625 [GRCh38]
Chr2:25057494 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.3216C>T (p.Ser1072=) single nucleotide variant ADCY3-related disorder [RCV003897119] Chr2:24820760 [GRCh38]
Chr2:25043629 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1355+9C>T single nucleotide variant ADCY3-related disorder [RCV003904617] Chr2:24839864 [GRCh38]
Chr2:25062733 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1086G>A (p.Arg362=) single nucleotide variant ADCY3-related disorder [RCV003971774] Chr2:24841369 [GRCh38]
Chr2:25064238 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1152C>T (p.Ala384=) single nucleotide variant ADCY3-related disorder [RCV003914047] Chr2:24841303 [GRCh38]
Chr2:25064172 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.3414_*3dup (p.His1138_Ter1145=) duplication ADCY3-related disorder [RCV003924775] Chr2:24819928..24819929 [GRCh38]
Chr2:25042797..25042798 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1658C>T (p.Ala553Val) single nucleotide variant ADCY3-related disorder [RCV003972123] Chr2:24836921 [GRCh38]
Chr2:25059790 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2415G>A (p.Lys805=) single nucleotide variant ADCY3-related disorder [RCV003934653] Chr2:24827919 [GRCh38]
Chr2:25050788 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.253G>A (p.Ala85Thr) single nucleotide variant ADCY3-related disorder [RCV003981814] Chr2:24918735 [GRCh38]
Chr2:25141604 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1662+9A>G single nucleotide variant ADCY3-related disorder [RCV003944044] Chr2:24836908 [GRCh38]
Chr2:25059777 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.624C>T (p.Thr208=) single nucleotide variant ADCY3-related disorder [RCV003947317] Chr2:24918364 [GRCh38]
Chr2:25141233 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.557G>A (p.Ser186Asn) single nucleotide variant ADCY3-related disorder [RCV003947283] Chr2:24918431 [GRCh38]
Chr2:25141300 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.3128-8T>G single nucleotide variant ADCY3-related disorder [RCV003969504] Chr2:24820856 [GRCh38]
Chr2:25043725 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.3253-9C>T single nucleotide variant ADCY3-related disorder [RCV003969842] Chr2:24820123 [GRCh38]
Chr2:25042992 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.528C>G (p.Val176=) single nucleotide variant ADCY3-related disorder [RCV003977267]|not provided [RCV005103128] Chr2:24918460 [GRCh38]
Chr2:25141329 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2358C>T (p.Ala786=) single nucleotide variant ADCY3-related disorder [RCV003899673] Chr2:24827976 [GRCh38]
Chr2:25050845 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2289C>T (p.Ile763=) single nucleotide variant ADCY3-related disorder [RCV003899640] Chr2:24828045 [GRCh38]
Chr2:25050914 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1722C>T (p.Asp574=) single nucleotide variant ADCY3-related disorder [RCV003949190] Chr2:24834877 [GRCh38]
Chr2:25057746 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.*9G>A single nucleotide variant ADCY3-related disorder [RCV003957107] Chr2:24819923 [GRCh38]
Chr2:25042792 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1665C>T (p.Ala555=) single nucleotide variant ADCY3-related disorder [RCV003894432] Chr2:24834934 [GRCh38]
Chr2:25057803 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.3231G>A (p.Thr1077=) single nucleotide variant ADCY3-related disorder [RCV003921646] Chr2:24820745 [GRCh38]
Chr2:25043614 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1635G>A (p.Ser545=) single nucleotide variant ADCY3-related disorder [RCV003901706] Chr2:24836944 [GRCh38]
Chr2:25059813 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2949G>A (p.Ala983=) single nucleotide variant ADCY3-related disorder [RCV003921929] Chr2:24822565 [GRCh38]
Chr2:25045434 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2359G>A (p.Val787Met) single nucleotide variant ADCY3-related disorder [RCV003909414] Chr2:24827975 [GRCh38]
Chr2:25050844 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2071C>A (p.Leu691Ile) single nucleotide variant ADCY3-related disorder [RCV003896589] Chr2:24830810 [GRCh38]
Chr2:25053679 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.3183C>T (p.Tyr1061=) single nucleotide variant ADCY3-related disorder [RCV003947202] Chr2:24820793 [GRCh38]
Chr2:25043662 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.322C>T (p.Leu108Phe) single nucleotide variant Inborn genetic diseases [RCV004370951] Chr2:24918666 [GRCh38]
Chr2:25141535 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.3404C>T (p.Thr1135Ile) single nucleotide variant ADCY3-related disorder [RCV004750461]|Inborn genetic diseases [RCV004370969] Chr2:24819963 [GRCh38]
Chr2:25042832 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1715T>C (p.Leu572Pro) single nucleotide variant ADCY3-related disorder [RCV004750484]|Inborn genetic diseases [RCV004611177] Chr2:24834884 [GRCh38]
Chr2:25057753 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2407G>A (p.Asp803Asn) single nucleotide variant ADCY3-related disorder [RCV004750486]|Inborn genetic diseases [RCV004611215] Chr2:24827927 [GRCh38]
Chr2:25050796 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2108G>A (p.Trp703Ter) single nucleotide variant not provided [RCV004018301] Chr2:24830773 [GRCh38]
Chr2:25053642 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.89G>A (p.Arg30His) single nucleotide variant ADCY3-related disorder [RCV004750483]|Inborn genetic diseases [RCV004611167] Chr2:24918899 [GRCh38]
Chr2:25141768 [GRCh37]
Chr2:2p23.3		 uncertain significance
NC_000002.11:g.(?_24443763)_(26068452_?)dup duplication Tatton-Brown-Rahman overgrowth syndrome [RCV004583687] Chr2:24443763..26068452 [GRCh37]
Chr2:2p23.3		 uncertain significance
NC_000002.11:g.(?_24443763)_(25536853_?)del deletion Tatton-Brown-Rahman overgrowth syndrome [RCV004583685] Chr2:24443763..25536853 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_004036.5(ADCY3):c.3239T>C (p.Met1080Thr) single nucleotide variant Inborn genetic diseases [RCV004611226] Chr2:24820737 [GRCh38]
Chr2:25043606 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.482G>A (p.Arg161His) single nucleotide variant Inborn genetic diseases [RCV004611206] Chr2:24918506 [GRCh38]
Chr2:25141375 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2350G>A (p.Ala784Thr) single nucleotide variant ADCY3-related disorder [RCV004750485]|Inborn genetic diseases [RCV004611188] Chr2:24827984 [GRCh38]
Chr2:25050853 [GRCh37]
Chr2:2p23.3		 likely benign|uncertain significance
NM_004036.5(ADCY3):c.1805+2T>C single nucleotide variant not provided [RCV004819152] Chr2:24834792 [GRCh38]
Chr2:25057661 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.3258A>G (p.Val1086=) single nucleotide variant ADCY3-related disorder [RCV004748039] Chr2:24820109 [GRCh38]
Chr2:25042978 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.3171G>A (p.Arg1057=) single nucleotide variant ADCY3-related disorder [RCV004748053] Chr2:24820805 [GRCh38]
Chr2:25043674 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1419C>T (p.Gly473=) single nucleotide variant ADCY3-related disorder [RCV004748154] Chr2:24838559 [GRCh38]
Chr2:25061428 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1822A>G (p.Thr608Ala) single nucleotide variant ADCY3-related disorder [RCV004748176] Chr2:24834630 [GRCh38]
Chr2:25057499 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1855G>A (p.Glu619Lys) single nucleotide variant ADCY3-related disorder [RCV004748164] Chr2:24834597 [GRCh38]
Chr2:25057466 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2114G>A (p.Arg705Lys) single nucleotide variant ADCY3-related disorder [RCV004748203] Chr2:24830767 [GRCh38]
Chr2:25053636 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1932C>G (p.Leu644=) single nucleotide variant ADCY3-related disorder [RCV004748365] Chr2:24834520 [GRCh38]
Chr2:25057389 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1805+2T>A single nucleotide variant ADCY3-related disorder [RCV004726477] Chr2:24834792 [GRCh38]
Chr2:25057661 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.3398C>G (p.Ser1133Cys) single nucleotide variant ADCY3-related disorder [RCV004748368] Chr2:24819969 [GRCh38]
Chr2:25042838 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1694G>A (p.Arg565Gln) single nucleotide variant ADCY3-related disorder [RCV004748358] Chr2:24834905 [GRCh38]
Chr2:25057774 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.3325AAGGGG[3] (p.Gly1112_Glu1113insLysGly) microsatellite ADCY3-related disorder [RCV004748490] Chr2:24820030..24820031 [GRCh38]
Chr2:25042899..25042900 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2334G>A (p.Thr778=) single nucleotide variant ADCY3-related disorder [RCV004749025] Chr2:24828000 [GRCh38]
Chr2:25050869 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2742G>A (p.Leu914=) single nucleotide variant ADCY3-related disorder [RCV004749049] Chr2:24823350 [GRCh38]
Chr2:25046219 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2261A>G (p.Tyr754Cys) single nucleotide variant ADCY3-related disorder [RCV004749198] Chr2:24828073 [GRCh38]
Chr2:25050942 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1332G>T (p.Lys444Asn) single nucleotide variant ADCY3-related disorder [RCV004749222] Chr2:24839896 [GRCh38]
Chr2:25062765 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.489C>T (p.His163=) single nucleotide variant ADCY3-related disorder [RCV004749193] Chr2:24918499 [GRCh38]
Chr2:25141368 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2541C>T (p.Phe847=) single nucleotide variant ADCY3-related disorder [RCV004749408] Chr2:24826081 [GRCh38]
Chr2:25048950 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1789C>A (p.Arg597=) single nucleotide variant ADCY3-related disorder [RCV004749379] Chr2:24834810 [GRCh38]
Chr2:25057679 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1924G>A (p.Val642Ile) single nucleotide variant ADCY3-related disorder [RCV004749972] Chr2:24834528 [GRCh38]
Chr2:25057397 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.675+9T>C single nucleotide variant ADCY3-related disorder [RCV004749974] Chr2:24918304 [GRCh38]
Chr2:25141173 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1365C>T (p.His455=) single nucleotide variant ADCY3-related disorder [RCV004750005] Chr2:24838613 [GRCh38]
Chr2:25061482 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1991T>G (p.Phe664Cys) single nucleotide variant ADCY3-related disorder [RCV004750025] Chr2:24831726 [GRCh38]
Chr2:25054595 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2704C>T (p.Arg902Cys) single nucleotide variant ADCY3-related disorder [RCV004749989] Chr2:24824410 [GRCh38]
Chr2:25047279 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2233G>A (p.Gly745Ser) single nucleotide variant ADCY3-related disorder [RCV004750047] Chr2:24828101 [GRCh38]
Chr2:25050970 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1125C>G (p.Gly375=) single nucleotide variant ADCY3-related disorder [RCV004750112] Chr2:24841330 [GRCh38]
Chr2:25064199 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2823C>T (p.Ile941=) single nucleotide variant ADCY3-related disorder [RCV004750138] Chr2:24823269 [GRCh38]
Chr2:25046138 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1356-7A>C single nucleotide variant ADCY3-related disorder [RCV004748011] Chr2:24838629 [GRCh38]
Chr2:25061498 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.3128-8T>C single nucleotide variant ADCY3-related disorder [RCV004748061] Chr2:24820856 [GRCh38]
Chr2:25043725 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.3016G>A (p.Glu1006Lys) single nucleotide variant ADCY3-related disorder [RCV004748152] Chr2:24821628 [GRCh38]
Chr2:25044497 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1999G>C (p.Gly667Arg) single nucleotide variant ADCY3-related disorder [RCV004748204] Chr2:24831718 [GRCh38]
Chr2:25054587 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1806-10C>G single nucleotide variant ADCY3-related disorder [RCV004748289] Chr2:24834656 [GRCh38]
Chr2:25057525 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2474C>G (p.Pro825Arg) single nucleotide variant ADCY3-related disorder [RCV004748295] Chr2:24827567 [GRCh38]
Chr2:25050436 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.313C>T (p.Leu105=) single nucleotide variant ADCY3-related disorder [RCV004724606] Chr2:24918675 [GRCh38]
Chr2:25141544 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1419C>A (p.Gly473=) single nucleotide variant ADCY3-related disorder [RCV004750609] Chr2:24838559 [GRCh38]
Chr2:25061428 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2560T>G (p.Tyr854Asp) single nucleotide variant ADCY3-related disorder [RCV004750656] Chr2:24826062 [GRCh38]
Chr2:25048931 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1132G>A (p.Asp378Asn) single nucleotide variant ADCY3-related disorder [RCV004748328] Chr2:24841323 [GRCh38]
Chr2:25064192 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1666G>A (p.Asp556Asn) single nucleotide variant ADCY3-related disorder [RCV004748441] Chr2:24834933 [GRCh38]
Chr2:25057802 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1533+2T>A single nucleotide variant ADCY3-related disorder [RCV004726612] Chr2:24838443 [GRCh38]
Chr2:25061312 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1892A>G (p.Gln631Arg) single nucleotide variant ADCY3-related disorder [RCV004749022] Chr2:24834560 [GRCh38]
Chr2:25057429 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.681G>A (p.Leu227=) single nucleotide variant ADCY3-related disorder [RCV004749128] Chr2:24872714 [GRCh38]
Chr2:25095583 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2573G>A (p.Arg858His) single nucleotide variant ADCY3-related disorder [RCV004749164] Chr2:24826049 [GRCh38]
Chr2:25048918 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1606G>A (p.Gly536Arg) single nucleotide variant ADCY3-related disorder [RCV004749139] Chr2:24836973 [GRCh38]
Chr2:25059842 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1204C>T (p.Arg402Trp) single nucleotide variant ADCY3-related disorder [RCV004749144] Chr2:24840024 [GRCh38]
Chr2:25062893 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.3364C>T (p.Arg1122Trp) single nucleotide variant ADCY3-related disorder [RCV004749151] Chr2:24820003 [GRCh38]
Chr2:25042872 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1263G>A (p.Leu421=) single nucleotide variant ADCY3-related disorder [RCV004749123] Chr2:24839965 [GRCh38]
Chr2:25062834 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2578-8G>A single nucleotide variant ADCY3-related disorder [RCV004749187] Chr2:24824544 [GRCh38]
Chr2:25047413 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.725T>C (p.Met242Thr) single nucleotide variant ADCY3-related disorder [RCV004749342] Chr2:24872670 [GRCh38]
Chr2:25095539 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.3133_3134dup (p.Asn1045fs) duplication ADCY3-related disorder [RCV004749410]|not provided [RCV004818798] Chr2:24820841..24820842 [GRCh38]
Chr2:25043710..25043711 [GRCh37]
Chr2:2p23.3		 likely pathogenic|uncertain significance
NM_004036.5(ADCY3):c.1632G>T (p.Thr544=) single nucleotide variant ADCY3-related disorder [RCV004749372] Chr2:24836947 [GRCh38]
Chr2:25059816 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2905C>T (p.Arg969Trp) single nucleotide variant ADCY3-related disorder [RCV004749430] Chr2:24822609 [GRCh38]
Chr2:25045478 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2619G>A (p.Glu873=) single nucleotide variant ADCY3-related disorder [RCV004729722] Chr2:24824495 [GRCh38]
Chr2:25047364 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1196+6del deletion ADCY3-related disorder [RCV004728059] Chr2:24841253 [GRCh38]
Chr2:25064122 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.3023_3024dup (p.Arg1009fs) microsatellite ADCY3-related disorder [RCV004749442]|not provided [RCV004810711] Chr2:24821619..24821620 [GRCh38]
Chr2:25044488..25044489 [GRCh37]
Chr2:2p23.3		 pathogenic|likely pathogenic
NM_004036.5(ADCY3):c.2412C>G (p.His804Gln) single nucleotide variant ADCY3-related disorder [RCV004750064]|Inborn genetic diseases [RCV004968623] Chr2:24827922 [GRCh38]
Chr2:25050791 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2120C>T (p.Thr707Ile) single nucleotide variant ADCY3-related disorder [RCV004750130]|Inborn genetic diseases [RCV004981199] Chr2:24830761 [GRCh38]
Chr2:25053630 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2849G>A (p.Arg950His) single nucleotide variant ADCY3-related disorder [RCV004750131] Chr2:24823243 [GRCh38]
Chr2:25046112 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1388G>A (p.Cys463Tyr) single nucleotide variant ADCY3-related disorder [RCV004750539] Chr2:24838590 [GRCh38]
Chr2:25061459 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2744A>G (p.Tyr915Cys) single nucleotide variant ADCY3-related disorder [RCV004750559] Chr2:24823348 [GRCh38]
Chr2:25046217 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.484G>A (p.Ala162Thr) single nucleotide variant ADCY3-related disorder [RCV004750579] Chr2:24918504 [GRCh38]
Chr2:25141373 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2211A>G (p.Ala737=) single nucleotide variant ADCY3-related disorder [RCV004750658] Chr2:24828123 [GRCh38]
Chr2:25050992 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2546T>C (p.Met849Thr) single nucleotide variant ADCY3-related disorder [RCV004728321] Chr2:24826076 [GRCh38]
Chr2:25048945 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.3014C>G (p.Ser1005Cys) single nucleotide variant ADCY3-related disorder [RCV004728167] Chr2:24821630 [GRCh38]
Chr2:25044499 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1177G>C (p.Ala393Pro) single nucleotide variant ADCY3-related disorder [RCV004748040] Chr2:24841278 [GRCh38]
Chr2:25064147 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.3431C>A (p.Ser1144Tyr) single nucleotide variant ADCY3-related disorder [RCV004748064] Chr2:24819936 [GRCh38]
Chr2:25042805 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1605C>T (p.Asn535=) single nucleotide variant ADCY3-related disorder [RCV004748104] Chr2:24836974 [GRCh38]
Chr2:25059843 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.3060G>A (p.Ala1020=) single nucleotide variant ADCY3-related disorder [RCV004748122]|not provided [RCV005103716] Chr2:24821584 [GRCh38]
Chr2:25044453 [GRCh37]
Chr2:2p23.3		 benign|likely benign
NM_004036.5(ADCY3):c.1846A>T (p.Met616Leu) single nucleotide variant ADCY3-related disorder [RCV004748231] Chr2:24834606 [GRCh38]
Chr2:25057475 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.393G>C (p.Pro131=) single nucleotide variant ADCY3-related disorder [RCV004748308] Chr2:24918595 [GRCh38]
Chr2:25141464 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.358A>G (p.Ile120Val) single nucleotide variant ADCY3-related disorder [RCV004726339] Chr2:24918630 [GRCh38]
Chr2:25141499 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1497G>A (p.Val499=) single nucleotide variant ADCY3-related disorder [RCV004748302] Chr2:24838481 [GRCh38]
Chr2:25061350 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1693C>T (p.Arg565Trp) single nucleotide variant ADCY3-related disorder [RCV004748398] Chr2:24834906 [GRCh38]
Chr2:25057775 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2578-6C>G single nucleotide variant ADCY3-related disorder [RCV004748401] Chr2:24824542 [GRCh38]
Chr2:25047411 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2298C>T (p.Ile766=) single nucleotide variant ADCY3-related disorder [RCV004748432] Chr2:24828036 [GRCh38]
Chr2:25050905 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2664C>T (p.Asn888=) single nucleotide variant ADCY3-related disorder [RCV004748404] Chr2:24824450 [GRCh38]
Chr2:25047319 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1533+7_1533+8insG insertion ADCY3-related disorder [RCV004748450] Chr2:24838437..24838438 [GRCh38]
Chr2:25061306..25061307 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.492G>T (p.Ala164=) single nucleotide variant ADCY3-related disorder [RCV004748452] Chr2:24918496 [GRCh38]
Chr2:25141365 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1345G>A (p.Gly449Ser) single nucleotide variant ADCY3-related disorder [RCV004748460] Chr2:24839883 [GRCh38]
Chr2:25062752 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.541A>G (p.Ile181Val) single nucleotide variant ADCY3-related disorder [RCV004726576] Chr2:24918447 [GRCh38]
Chr2:25141316 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1235G>A (p.Arg412His) single nucleotide variant ADCY3-related disorder [RCV004748463] Chr2:24839993 [GRCh38]
Chr2:25062862 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.500A>G (p.Asp167Gly) single nucleotide variant ADCY3-related disorder [RCV004748483] Chr2:24918488 [GRCh38]
Chr2:25141357 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.666G>A (p.Leu222=) single nucleotide variant ADCY3-related disorder [RCV004749019] Chr2:24918322 [GRCh38]
Chr2:25141191 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1702C>T (p.Arg568Cys) single nucleotide variant ADCY3-related disorder [RCV004749073] Chr2:24834897 [GRCh38]
Chr2:25057766 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1299C>T (p.Asp433=) single nucleotide variant ADCY3-related disorder [RCV004749212] Chr2:24839929 [GRCh38]
Chr2:25062798 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2639G>C (p.Arg880Pro) single nucleotide variant ADCY3-related disorder [RCV004729712] Chr2:24824475 [GRCh38]
Chr2:25047344 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2578-10G>T single nucleotide variant ADCY3-related disorder [RCV004749253] Chr2:24824546 [GRCh38]
Chr2:25047415 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.3366G>A (p.Arg1122=) single nucleotide variant ADCY3-related disorder [RCV004749300] Chr2:24820001 [GRCh38]
Chr2:25042870 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.362T>A (p.Leu121His) single nucleotide variant ADCY3-related disorder [RCV004749381] Chr2:24918626 [GRCh38]
Chr2:25141495 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.702G>T (p.Leu234=) single nucleotide variant ADCY3-related disorder [RCV004749984] Chr2:24872693 [GRCh38]
Chr2:25095562 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1644C>T (p.Pro548=) single nucleotide variant ADCY3-related disorder [RCV004750076] Chr2:24836935 [GRCh38]
Chr2:25059804 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.676-6G>A single nucleotide variant ADCY3-related disorder [RCV004750600] Chr2:24872725 [GRCh38]
Chr2:25095594 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1770C>A (p.Leu590=) single nucleotide variant ADCY3-related disorder [RCV004750688] Chr2:24834829 [GRCh38]
Chr2:25057698 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2971G>A (p.Val991Ile) single nucleotide variant ADCY3-related disorder [RCV004748033] Chr2:24822543 [GRCh38]
Chr2:25045412 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.107A>C (p.His36Pro) single nucleotide variant ADCY3-related disorder [RCV004748117] Chr2:24918881 [GRCh38]
Chr2:25141750 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2500C>T (p.Pro834Ser) single nucleotide variant ADCY3-related disorder [RCV004748120] Chr2:24826122 [GRCh38]
Chr2:25048991 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1318del (p.Thr440fs) deletion ADCY3-related disorder [RCV004748140] Chr2:24839910 [GRCh38]
Chr2:25062779 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_004036.5(ADCY3):c.2684T>A (p.Met895Lys) single nucleotide variant ADCY3-related disorder [RCV004726334]|not provided [RCV004818795] Chr2:24824430 [GRCh38]
Chr2:25047299 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.180G>C (p.Glu60Asp) single nucleotide variant ADCY3-related disorder [RCV004748246]|not provided [RCV004818797] Chr2:24918808 [GRCh38]
Chr2:25141677 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2072T>C (p.Leu691Pro) single nucleotide variant ADCY3-related disorder [RCV004726361] Chr2:24830809 [GRCh38]
Chr2:25053678 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.3169C>T (p.Arg1057Trp) single nucleotide variant ADCY3-related disorder [RCV004726446] Chr2:24820807 [GRCh38]
Chr2:25043676 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.956+5G>A single nucleotide variant ADCY3-related disorder [RCV004748336] Chr2:24842249 [GRCh38]
Chr2:25065118 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1805T>G (p.Val602Gly) single nucleotide variant ADCY3-related disorder [RCV004726460] Chr2:24834794 [GRCh38]
Chr2:25057663 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2368A>G (p.Ile790Val) single nucleotide variant ADCY3-related disorder [RCV004748387] Chr2:24827966 [GRCh38]
Chr2:25050835 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.3003+6T>G single nucleotide variant ADCY3-related disorder [RCV004748395] Chr2:24822505 [GRCh38]
Chr2:25045374 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1840C>A (p.Arg614=) single nucleotide variant ADCY3-related disorder [RCV004726564] Chr2:24834612 [GRCh38]
Chr2:25057481 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1205G>A (p.Arg402Gln) single nucleotide variant ADCY3-related disorder [RCV004748474] Chr2:24840023 [GRCh38]
Chr2:25062892 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.3307C>T (p.Arg1103Ter) single nucleotide variant ADCY3-related disorder [RCV004749009] Chr2:24820060 [GRCh38]
Chr2:25042929 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.956+4C>T single nucleotide variant ADCY3-related disorder [RCV004749186] Chr2:24842250 [GRCh38]
Chr2:25065119 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1481C>T (p.Ala494Val) single nucleotide variant ADCY3-related disorder [RCV004749142] Chr2:24838497 [GRCh38]
Chr2:25061366 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1731G>A (p.Val577=) single nucleotide variant ADCY3-related disorder [RCV004749464] Chr2:24834868 [GRCh38]
Chr2:25057737 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1069-8C>T single nucleotide variant ADCY3-related disorder [RCV004749963] Chr2:24841394 [GRCh38]
Chr2:25064263 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.3423G>A (p.Val1141=) single nucleotide variant ADCY3-related disorder [RCV004749979] Chr2:24819944 [GRCh38]
Chr2:25042813 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.3237C>T (p.Val1079=) single nucleotide variant ADCY3-related disorder [RCV004750110]|not provided [RCV005104886] Chr2:24820739 [GRCh38]
Chr2:25043608 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1663-1G>A single nucleotide variant ADCY3-related disorder [RCV004728065] Chr2:24834937 [GRCh38]
Chr2:25057806 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_004036.5(ADCY3):c.354C>T (p.Asp118=) single nucleotide variant ADCY3-related disorder [RCV004728117] Chr2:24918634 [GRCh38]
Chr2:25141503 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.957-1G>A single nucleotide variant ADCY3-related disorder [RCV004728154] Chr2:24841668 [GRCh38]
Chr2:25064537 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_004036.5(ADCY3):c.2885T>C (p.Leu962Pro) single nucleotide variant ADCY3-related disorder [RCV004750602] Chr2:24822629 [GRCh38]
Chr2:25045498 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.3335G>C (p.Gly1112Ala) single nucleotide variant ADCY3-related disorder [RCV004750633] Chr2:24820032 [GRCh38]
Chr2:25042901 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1266G>A (p.Gly422=) single nucleotide variant ADCY3-related disorder [RCV004750643] Chr2:24839962 [GRCh38]
Chr2:25062831 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.601C>T (p.His201Tyr) single nucleotide variant ADCY3-related disorder [RCV004724257] Chr2:24918387 [GRCh38]
Chr2:25141256 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2574C>T (p.Arg858=) single nucleotide variant ADCY3-related disorder [RCV004724487] Chr2:24826048 [GRCh38]
Chr2:25048917 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.676-1G>T single nucleotide variant ADCY3-related disorder [RCV004729973] Chr2:24872720 [GRCh38]
Chr2:25095589 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1468T>C (p.Tyr490His) single nucleotide variant ADCY3-related disorder [RCV004729729] Chr2:24838510 [GRCh38]
Chr2:25061379 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.693C>T (p.Phe231=) single nucleotide variant ADCY3-related disorder [RCV004748262] Chr2:24872702 [GRCh38]
Chr2:25095571 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.63C>G (p.Ser21=) single nucleotide variant ADCY3-related disorder [RCV004748270] Chr2:24918925 [GRCh38]
Chr2:25141794 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2356G>A (p.Ala786Thr) single nucleotide variant ADCY3-related disorder [RCV004748393] Chr2:24827978 [GRCh38]
Chr2:25050847 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1359C>T (p.Arg453=) single nucleotide variant ADCY3-related disorder [RCV004748485] Chr2:24838619 [GRCh38]
Chr2:25061488 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.469C>T (p.Leu157=) single nucleotide variant ADCY3-related disorder [RCV004749064] Chr2:24918519 [GRCh38]
Chr2:25141388 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2528C>T (p.Thr843Met) single nucleotide variant ADCY3-related disorder [RCV004749035] Chr2:24826094 [GRCh38]
Chr2:25048963 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1494G>T (p.Glu498Asp) single nucleotide variant ADCY3-related disorder [RCV004749094] Chr2:24838484 [GRCh38]
Chr2:25061353 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2432+10A>T single nucleotide variant ADCY3-related disorder [RCV004749109] Chr2:24827892 [GRCh38]
Chr2:25050761 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2013C>A (p.Leu671=) single nucleotide variant ADCY3-related disorder [RCV004749309] Chr2:24831704 [GRCh38]
Chr2:25054573 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.33_44dup (p.Ser21_Val22insAlaGluTyrSer) duplication ADCY3-related disorder [RCV004724635] Chr2:24918943..24918944 [GRCh38]
Chr2:25141812..25141813 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2737-7T>G single nucleotide variant ADCY3-related disorder [RCV004749391] Chr2:24823362 [GRCh38]
Chr2:25046231 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.3253-8C>T single nucleotide variant ADCY3-related disorder [RCV004749406] Chr2:24820122 [GRCh38]
Chr2:25042991 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2595G>C (p.Arg865=) single nucleotide variant ADCY3-related disorder [RCV004749453] Chr2:24824519 [GRCh38]
Chr2:25047388 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.3303G>A (p.Val1101=) single nucleotide variant ADCY3-related disorder [RCV004750016] Chr2:24820064 [GRCh38]
Chr2:25042933 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1049G>C (p.Arg350Pro) single nucleotide variant ADCY3-related disorder [RCV004750697] Chr2:24841575 [GRCh38]
Chr2:25064444 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.3429C>A (p.Asn1143Lys) single nucleotide variant ADCY3-related disorder [RCV004728187] Chr2:24819938 [GRCh38]
Chr2:25042807 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1613C>T (p.Ala538Val) single nucleotide variant ADCY3-related disorder [RCV004748144] Chr2:24836966 [GRCh38]
Chr2:25059835 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2254A>G (p.Lys752Glu) single nucleotide variant ADCY3-related disorder [RCV004726256] Chr2:24828080 [GRCh38]
Chr2:25050949 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.687C>T (p.Asn229=) single nucleotide variant ADCY3-related disorder [RCV004748230] Chr2:24872708 [GRCh38]
Chr2:25095577 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.3015C>A (p.Ser1005=) single nucleotide variant ADCY3-related disorder [RCV004726246] Chr2:24821629 [GRCh38]
Chr2:25044498 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.75dup (p.Ser26fs) duplication ADCY3-related disorder [RCV004748269] Chr2:24918912..24918913 [GRCh38]
Chr2:25141781..25141782 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.714T>C (p.Ala238=) single nucleotide variant ADCY3-related disorder [RCV004748274] Chr2:24872681 [GRCh38]
Chr2:25095550 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1527T>C (p.Asn509=) single nucleotide variant ADCY3-related disorder [RCV004748237] Chr2:24838451 [GRCh38]
Chr2:25061320 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1503A>C (p.Lys501Asn) single nucleotide variant ADCY3-related disorder [RCV004748382] Chr2:24838475 [GRCh38]
Chr2:25061344 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.160C>A (p.Arg54=) single nucleotide variant ADCY3-related disorder [RCV004748996] Chr2:24918828 [GRCh38]
Chr2:25141697 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.952G>A (p.Val318Ile) single nucleotide variant ADCY3-related disorder [RCV004749215] Chr2:24842258 [GRCh38]
Chr2:25065127 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.956+9G>C single nucleotide variant ADCY3-related disorder [RCV004749317] Chr2:24842245 [GRCh38]
Chr2:25065114 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1571G>C (p.Ser524Thr) single nucleotide variant ADCY3-related disorder [RCV004749383] Chr2:24837008 [GRCh38]
Chr2:25059877 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1048C>T (p.Arg350Cys) single nucleotide variant ADCY3-related disorder [RCV004749443] Chr2:24841576 [GRCh38]
Chr2:25064445 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.567C>T (p.Pro189=) single nucleotide variant ADCY3-related disorder [RCV004750024] Chr2:24918421 [GRCh38]
Chr2:25141290 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1116C>T (p.Cys372=) single nucleotide variant ADCY3-related disorder [RCV004750030] Chr2:24841339 [GRCh38]
Chr2:25064208 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1456G>A (p.Gly486Ser) single nucleotide variant ADCY3-related disorder [RCV004750060] Chr2:24838522 [GRCh38]
Chr2:25061391 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.172G>T (p.Val58Leu) single nucleotide variant ADCY3-related disorder [RCV004750141] Chr2:24918816 [GRCh38]
Chr2:25141685 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.102G>A (p.Arg34=) single nucleotide variant ADCY3-related disorder [RCV004750162] Chr2:24918886 [GRCh38]
Chr2:25141755 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2892C>G (p.Asp964Glu) single nucleotide variant ADCY3-related disorder [RCV004750504] Chr2:24822622 [GRCh38]
Chr2:25045491 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1663G>A (p.Ala555Thr) single nucleotide variant ADCY3-related disorder [RCV004750607] Chr2:24834936 [GRCh38]
Chr2:25057805 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.603C>T (p.His201=) single nucleotide variant ADCY3-related disorder [RCV004750676] Chr2:24918385 [GRCh38]
Chr2:25141254 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1064C>T (p.Ala355Val) single nucleotide variant ADCY3-related disorder [RCV004728206] Chr2:24841560 [GRCh38]
Chr2:25064429 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.767dup (p.Glu257fs) duplication ADCY3-related disorder [RCV004728293] Chr2:24872627..24872628 [GRCh38]
Chr2:25095496..25095497 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.3152C>A (p.Ala1051Asp) single nucleotide variant ADCY3-related disorder [RCV004724445] Chr2:24820824 [GRCh38]
Chr2:25043693 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1644C>G (p.Pro548=) single nucleotide variant ADCY3-related disorder [RCV004724711] Chr2:24836935 [GRCh38]
Chr2:25059804 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.3329_3330del (p.Gly1110fs) deletion ADCY3-related disorder [RCV004728471] Chr2:24820037..24820038 [GRCh38]
Chr2:25042906..25042907 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.38C>T (p.Ser13Leu) single nucleotide variant ADCY3-related disorder [RCV004748007] Chr2:24918950 [GRCh38]
Chr2:25141819 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2245G>A (p.Glu749Lys) single nucleotide variant ADCY3-related disorder [RCV004748044] Chr2:24828089 [GRCh38]
Chr2:25050958 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.313C>G (p.Leu105Val) single nucleotide variant ADCY3-related disorder [RCV004748030] Chr2:24918675 [GRCh38]
Chr2:25141544 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2099G>A (p.Arg700Gln) single nucleotide variant ADCY3-related disorder [RCV004748110] Chr2:24830782 [GRCh38]
Chr2:25053651 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2387G>A (p.Arg796His) single nucleotide variant ADCY3-related disorder [RCV004748114] Chr2:24827947 [GRCh38]
Chr2:25050816 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.3004-3C>T single nucleotide variant ADCY3-related disorder [RCV004748141] Chr2:24821643 [GRCh38]
Chr2:25044512 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.774C>T (p.Ala258=) single nucleotide variant ADCY3-related disorder [RCV004748199] Chr2:24872621 [GRCh38]
Chr2:25095490 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2391C>T (p.Pro797=) single nucleotide variant ADCY3-related disorder [RCV004748205] Chr2:24827943 [GRCh38]
Chr2:25050812 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.3079C>T (p.Leu1027Phe) single nucleotide variant ADCY3-related disorder [RCV004748212] Chr2:24821565 [GRCh38]
Chr2:25044434 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.713C>T (p.Ala238Val) single nucleotide variant ADCY3-related disorder [RCV004748275] Chr2:24872682 [GRCh38]
Chr2:25095551 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2054G>A (p.Arg685Gln) single nucleotide variant ADCY3-related disorder [RCV004748356] Chr2:24831663 [GRCh38]
Chr2:25054532 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1038G>A (p.Glu346=) single nucleotide variant ADCY3-related disorder [RCV004748433] Chr2:24841586 [GRCh38]
Chr2:25064455 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1197-4G>T single nucleotide variant ADCY3-related disorder [RCV004748456] Chr2:24840035 [GRCh38]
Chr2:25062904 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.395A>G (p.Asp132Gly) single nucleotide variant ADCY3-related disorder [RCV004748468] Chr2:24918593 [GRCh38]
Chr2:25141462 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2775G>A (p.Met925Ile) single nucleotide variant ADCY3-related disorder [RCV004729953] Chr2:24823317 [GRCh38]
Chr2:25046186 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.527T>C (p.Val176Ala) single nucleotide variant ADCY3-related disorder [RCV004729956] Chr2:24918461 [GRCh38]
Chr2:25141330 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1947C>T (p.Val649=) single nucleotide variant ADCY3-related disorder [RCV004749015] Chr2:24834505 [GRCh38]
Chr2:25057374 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1806-8C>T single nucleotide variant ADCY3-related disorder [RCV004749018] Chr2:24834654 [GRCh38]
Chr2:25057523 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.755G>A (p.Arg252His) single nucleotide variant ADCY3-related disorder [RCV004749032] Chr2:24872640 [GRCh38]
Chr2:25095509 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1085G>A (p.Arg362Gln) single nucleotide variant ADCY3-related disorder [RCV004749060] Chr2:24841370 [GRCh38]
Chr2:25064239 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2055+1G>C single nucleotide variant ADCY3-related disorder [RCV004749125] Chr2:24831661 [GRCh38]
Chr2:25054530 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_004036.5(ADCY3):c.2280G>A (p.Leu760=) single nucleotide variant ADCY3-related disorder [RCV004749131] Chr2:24828054 [GRCh38]
Chr2:25050923 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1242G>T (p.Gly414=) single nucleotide variant ADCY3-related disorder [RCV004749145] Chr2:24839986 [GRCh38]
Chr2:25062855 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2251C>A (p.Pro751Thr) single nucleotide variant ADCY3-related disorder [RCV004749196] Chr2:24828083 [GRCh38]
Chr2:25050952 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.3306G>A (p.Arg1102=) single nucleotide variant ADCY3-related disorder [RCV004749172]|not provided [RCV005059865] Chr2:24820061 [GRCh38]
Chr2:25042930 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2508G>A (p.Val836=) single nucleotide variant ADCY3-related disorder [RCV004749233] Chr2:24826114 [GRCh38]
Chr2:25048983 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.36C>T (p.Tyr12=) single nucleotide variant ADCY3-related disorder [RCV004749312] Chr2:24918952 [GRCh38]
Chr2:25141821 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1772A>G (p.Asn591Ser) single nucleotide variant ADCY3-related disorder [RCV004749366] Chr2:24834827 [GRCh38]
Chr2:25057696 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.117_120dup (p.Arg41fs) duplication ADCY3-related disorder [RCV004749384] Chr2:24918867..24918868 [GRCh38]
Chr2:25141736..25141737 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1235G>C (p.Arg412Pro) single nucleotide variant ADCY3-related disorder [RCV004749395] Chr2:24839993 [GRCh38]
Chr2:25062862 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2310G>A (p.Gln770=) single nucleotide variant ADCY3-related disorder [RCV004749415] Chr2:24828024 [GRCh38]
Chr2:25050893 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2464G>A (p.Gly822Arg) single nucleotide variant ADCY3-related disorder [RCV004749470] Chr2:24827577 [GRCh38]
Chr2:25050446 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.35A>G (p.Tyr12Cys) single nucleotide variant ADCY3-related disorder [RCV004749468] Chr2:24918953 [GRCh38]
Chr2:25141822 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2352A>G (p.Ala784=) single nucleotide variant ADCY3-related disorder [RCV004750081] Chr2:24827982 [GRCh38]
Chr2:25050851 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.642G>A (p.Gln214=) single nucleotide variant ADCY3-related disorder [RCV004750027] Chr2:24918346 [GRCh38]
Chr2:25141215 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.826-7dup duplication ADCY3-related disorder [RCV004750144] Chr2:24842390..24842391 [GRCh38]
Chr2:25065259..25065260 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2446G>A (p.Ala816Thr) single nucleotide variant ADCY3-related disorder [RCV004750160] Chr2:24827595 [GRCh38]
Chr2:25050464 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2228C>T (p.Thr743Met) single nucleotide variant ADCY3-related disorder [RCV004750165] Chr2:24828106 [GRCh38]
Chr2:25050975 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2544C>T (p.Leu848=) single nucleotide variant ADCY3-related disorder [RCV004750156] Chr2:24826078 [GRCh38]
Chr2:25048947 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2333C>T (p.Thr778Met) single nucleotide variant ADCY3-related disorder [RCV004750199] Chr2:24828001 [GRCh38]
Chr2:25050870 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2945_2947dup (p.Met982_Ala983insVal) duplication ADCY3-related disorder [RCV004750502] Chr2:24822566..24822567 [GRCh38]
Chr2:25045435..25045436 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.25G>A (p.Glu9Lys) single nucleotide variant ADCY3-related disorder [RCV004750576] Chr2:24918963 [GRCh38]
Chr2:25141832 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.755G>T (p.Arg252Leu) single nucleotide variant ADCY3-related disorder [RCV004750522] Chr2:24872640 [GRCh38]
Chr2:25095509 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1723C>T (p.Arg575Ter) single nucleotide variant ADCY3-related disorder [RCV004750592] Chr2:24834876 [GRCh38]
Chr2:25057745 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_004036.5(ADCY3):c.3004-24_3004-3del deletion ADCY3-related disorder [RCV004750698] Chr2:24821643..24821664 [GRCh38]
Chr2:25044512..25044533 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1041C>A (p.Leu347=) single nucleotide variant ADCY3-related disorder [RCV004750667] Chr2:24841583 [GRCh38]
Chr2:25064452 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2820C>T (p.Ser940=) single nucleotide variant ADCY3-related disorder [RCV004750635] Chr2:24823272 [GRCh38]
Chr2:25046141 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.85G>A (p.Asp29Asn) single nucleotide variant ADCY3-related disorder [RCV004750691] Chr2:24918903 [GRCh38]
Chr2:25141772 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.923A>G (p.Asn308Ser) single nucleotide variant Inborn genetic diseases [RCV004974084] Chr2:24842287 [GRCh38]
Chr2:25065156 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1541C>T (p.Pro514Leu) single nucleotide variant Inborn genetic diseases [RCV004967889] Chr2:24837038 [GRCh38]
Chr2:25059907 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.3022G>C (p.Glu1008Gln) single nucleotide variant Inborn genetic diseases [RCV004967890] Chr2:24821622 [GRCh38]
Chr2:25044491 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2452G>A (p.Glu818Lys) single nucleotide variant Inborn genetic diseases [RCV004974089] Chr2:24827589 [GRCh38]
Chr2:25050458 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh37/hg19 2p24.1-22.2(chr2:20938401-37327210)x3 copy number gain not provided [RCV004819299] Chr2:20938401..37327210 [GRCh37]
Chr2:2p24.1-22.2		 pathogenic
NM_004036.5(ADCY3):c.2105G>A (p.Arg702His) single nucleotide variant Inborn genetic diseases [RCV004974086] Chr2:24830776 [GRCh38]
Chr2:25053645 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2834G>C (p.Gly945Ala) single nucleotide variant Inborn genetic diseases [RCV004967891] Chr2:24823258 [GRCh38]
Chr2:25046127 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.3011A>G (p.Lys1004Arg) single nucleotide variant Inborn genetic diseases [RCV004974094] Chr2:24821633 [GRCh38]
Chr2:25044502 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.2731G>C (p.Asp911His) single nucleotide variant Inborn genetic diseases [RCV004974085] Chr2:24824383 [GRCh38]
Chr2:25047252 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_004036.5(ADCY3):c.1967+15G>C single nucleotide variant not provided [RCV005087449] Chr2:24834470 [GRCh38]
Chr2:25057339 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.951C>T (p.Asn317=) single nucleotide variant not provided [RCV005145784] Chr2:24842259 [GRCh38]
Chr2:25065128 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.909C>T (p.Asp303=) single nucleotide variant not provided [RCV005176034] Chr2:24842301 [GRCh38]
Chr2:25065170 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.3004-16C>T single nucleotide variant not provided [RCV005064652] Chr2:24821656 [GRCh38]
Chr2:25044525 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.3252+11T>G single nucleotide variant not provided [RCV005060831] Chr2:24820713 [GRCh38]
Chr2:25043582 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2737-15C>T single nucleotide variant not provided [RCV005088175] Chr2:24823370 [GRCh38]
Chr2:25046239 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.3396C>T (p.Pro1132=) single nucleotide variant not provided [RCV005174319] Chr2:24819971 [GRCh38]
Chr2:25042840 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1344C>T (p.Gly448=) single nucleotide variant not provided [RCV005145578] Chr2:24839884 [GRCh38]
Chr2:25062753 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1196+16C>T single nucleotide variant not provided [RCV005060079] Chr2:24841243 [GRCh38]
Chr2:25064112 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1467C>T (p.Thr489=) single nucleotide variant not provided [RCV005188264] Chr2:24838511 [GRCh38]
Chr2:25061380 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2313C>T (p.Val771=) single nucleotide variant not provided [RCV005069442] Chr2:24828021 [GRCh38]
Chr2:25050890 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.558C>T (p.Ser186=) single nucleotide variant not provided [RCV005125062] Chr2:24918430 [GRCh38]
Chr2:25141299 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1203G>A (p.Val401=) single nucleotide variant not provided [RCV005177877] Chr2:24840025 [GRCh38]
Chr2:25062894 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.187G>T (p.Glu63Ter) single nucleotide variant not provided [RCV005205116] Chr2:24918801 [GRCh38]
Chr2:25141670 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_004036.5(ADCY3):c.956+18G>A single nucleotide variant not provided [RCV005074949] Chr2:24842236 [GRCh38]
Chr2:25065105 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.2056-4C>T single nucleotide variant not provided [RCV005082285] Chr2:24830829 [GRCh38]
Chr2:25053698 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.3168C>T (p.Ala1056=) single nucleotide variant not provided [RCV005084386] Chr2:24820808 [GRCh38]
Chr2:25043677 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1296C>T (p.Tyr432=) single nucleotide variant not provided [RCV005113893] Chr2:24839932 [GRCh38]
Chr2:25062801 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.700C>T (p.Leu234=) single nucleotide variant not provided [RCV005178755] Chr2:24872695 [GRCh38]
Chr2:25095564 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.894C>T (p.Asp298=) single nucleotide variant not provided [RCV005185135] Chr2:24842316 [GRCh38]
Chr2:25065185 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.975C>T (p.Ile325=) single nucleotide variant not provided [RCV005152302] Chr2:24841649 [GRCh38]
Chr2:25064518 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1251G>T (p.Thr417=) single nucleotide variant not provided [RCV005178609] Chr2:24839977 [GRCh38]
Chr2:25062846 [GRCh37]
Chr2:2p23.3		 likely benign
NM_004036.5(ADCY3):c.1968-11_1968-8del microsatellite not provided [RCV005182284] Chr2:24831757..24831760 [GRCh38]
Chr2:25054626..25054629 [GRCh37]
Chr2:2p23.3		 likely benign
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:4339
Count of miRNA genes:1030
Interacting mature miRNAs:1298
Transcripts:ENST00000260600, ENST00000405392, ENST00000427849, ENST00000433852, ENST00000435135, ENST00000438445, ENST00000450524, ENST00000454027, ENST00000455323, ENST00000479517, ENST00000485887, ENST00000498288, ENST00000606682
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
597208472GWAS1304546_Hgrip strength measurement QTL GWAS1304546 (human)2e-23grip strength measurement22491399724913998Human
597021331GWAS1117405_HCrohn's disease QTL GWAS1117405 (human)9e-08intestine integrity trait (VT:0010554)22487477524874776Human
407027530GWAS676506_Hbody mass index QTL GWAS676506 (human)0.000002body mass indexbody mass index (BMI) (CMO:0000105)22488023924880240Human
597268115GWAS1364189_Hdiastolic blood pressure QTL GWAS1364189 (human)4e-16diastolic blood pressurediastolic blood pressure (CMO:0000005)22491275124912752Human
597316758GWAS1412832_Hbody mass index QTL GWAS1412832 (human)3e-12body mass indexbody mass index (BMI) (CMO:0000105)22491866924918670Human
597207432GWAS1303506_Hgrip strength measurement QTL GWAS1303506 (human)2e-20grip strength measurement22491399724913998Human
597181576GWAS1277650_Hbody mass index QTL GWAS1277650 (human)1e-96body mass indexbody mass index (BMI) (CMO:0000105)22491866924918670Human
597316751GWAS1412825_Hbody mass index QTL GWAS1412825 (human)1e-14body mass indexbody mass index (BMI) (CMO:0000105)22491866924918670Human
597330829GWAS1426903_Hbody mass index QTL GWAS1426903 (human)1e-41body mass indexbody mass index (BMI) (CMO:0000105)22487516424875169Human
597318787GWAS1414861_Hbody mass index QTL GWAS1414861 (human)4e-16body mass indexbody mass index (BMI) (CMO:0000105)22489237424892375Human
597241216GWAS1337290_HC-reactive protein measurement QTL GWAS1337290 (human)7e-20C-reactive protein measurementblood C-reactive protein level (CMO:0003160)22490757124907572Human
597027726GWAS1123800_Hbody mass index QTL GWAS1123800 (human)1e-72body mass indexbody mass index (BMI) (CMO:0000105)22486395824863959Human
406964573GWAS613549_Hreticulocyte count QTL GWAS613549 (human)4e-09reticulocyte quantity (VT:0003135)total reticulocyte count (CMO:0003020)22491445424914455Human
597181575GWAS1277649_Hbody mass index QTL GWAS1277649 (human)2e-14body mass indexbody mass index (BMI) (CMO:0000105)22482232624822327Human
597317305GWAS1413379_Hbody mass index QTL GWAS1413379 (human)3e-09body mass indexbody mass index (BMI) (CMO:0000105)22491866924918670Human
597039282GWAS1135356_Hobesity QTL GWAS1135356 (human)1e-11obesity22489997124899972Human
597139379GWAS1235453_Hdental caries, dentures QTL GWAS1235453 (human)1e-08sleep behavior trait (VT:0001501)22491866924918670Human
597039539GWAS1135613_Hsystolic blood pressure QTL GWAS1135613 (human)9e-13systolic blood pressuresystolic blood pressure (CMO:0000004)22491114224911143Human
597026749GWAS1122823_Hbody mass index QTL GWAS1122823 (human)1e-78body mass indexbody mass index (BMI) (CMO:0000105)22491399724913998Human
597055423GWAS1151497_Hage at menarche QTL GWAS1151497 (human)2e-10age at menarche22482930824829309Human
597093306GWAS1189380_HCrohn's disease QTL GWAS1189380 (human)1e-21intestine integrity trait (VT:0010554)22487477524874776Human
597068984GWAS1165058_Hsusceptibility to pneumonia measurement QTL GWAS1165058 (human)0.000006susceptibility to pneumonia measurement22484945724849458Human
597452979GWAS1549053_Hdiastolic blood pressure QTL GWAS1549053 (human)1e-21diastolic blood pressurediastolic blood pressure (CMO:0000005)22491275124912752Human
407039090GWAS688066_Hheight-adjusted body mass index QTL GWAS688066 (human)4e-09height-adjusted body mass indexbody mass index (BMI) (CMO:0000105)22491866924918670Human
407092338GWAS741314_Hbody mass index QTL GWAS741314 (human)1e-11body mass indexbody mass index (BMI) (CMO:0000105)22491399724913998Human
597279137GWAS1375211_HCOVID-19, obesity QTL GWAS1375211 (human)7e-10COVID-19, obesity22485954524859546Human
597021101GWAS1117175_Hinflammatory bowel disease QTL GWAS1117175 (human)0.0000003inflammatory bowel disease22487477524874776Human
597171621GWAS1267695_Hintelligence QTL GWAS1267695 (human)6e-10intelligence22491275124912752Human
597273511GWAS1369585_Hsystolic blood pressure QTL GWAS1369585 (human)5e-14systolic blood pressuresystolic blood pressure (CMO:0000004)22491472524914726Human
597091284GWAS1187358_Hbody mass index QTL GWAS1187358 (human)1e-11body mass indexbody mass index (BMI) (CMO:0000105)22491866924918670Human
597281501GWAS1377575_HBMI-adjusted hip circumference QTL GWAS1377575 (human)4e-08BMI-adjusted hip circumferencehip circumference (CMO:0000014)22487662524876626Human
597197020GWAS1293094_Hbody mass index QTL GWAS1293094 (human)6e-18body mass indexbody mass index (BMI) (CMO:0000105)22491165724911658Human
597281503GWAS1377577_HBMI-adjusted hip circumference QTL GWAS1377577 (human)1e-10BMI-adjusted hip circumferencehip circumference (CMO:0000014)22490758224907583Human
597281502GWAS1377576_HBMI-adjusted hip circumference QTL GWAS1377576 (human)1e-12BMI-adjusted hip circumferencehip circumference (CMO:0000014)22484812324848124Human
597348829GWAS1444903_Hbody fat percentage QTL GWAS1444903 (human)1e-21body fat mass (VT:0010482)body fat percentage (CMO:0000302)22486044124860442Human
597316050GWAS1412124_Hbody mass index QTL GWAS1412124 (human)3e-22body mass indexbody mass index (BMI) (CMO:0000105)22491866924918670Human
407022349GWAS671325_Hbody mass index QTL GWAS671325 (human)4e-08body mass indexbody mass index (BMI) (CMO:0000105)22489410824894109Human
597267912GWAS1363986_Hbody mass index QTL GWAS1363986 (human)3e-18body mass indexbody mass index (BMI) (CMO:0000105)22491445424914455Human
597090759GWAS1186833_Hmammographic density percentage QTL GWAS1186833 (human)2e-09hip circumference22491866924918670Human
597214665GWAS1310739_Hbody mass index QTL GWAS1310739 (human)4e-59body mass indexbody mass index (BMI) (CMO:0000105)22491866924918670Human
597316808GWAS1412882_Hbody mass index QTL GWAS1412882 (human)2e-19body mass indexbody mass index (BMI) (CMO:0000105)22491866924918670Human
597143234GWAS1239308_HC-reactive protein measurement QTL GWAS1239308 (human)2e-24C-reactive protein measurementblood C-reactive protein level (CMO:0003160)22488643324886434Human
407000085GWAS649061_Hdiastolic blood pressure QTL GWAS649061 (human)6e-09diastolic blood pressurediastolic blood pressure (CMO:0000005)22490767324907674Human
407058969GWAS707945_Hbody mass index QTL GWAS707945 (human)1e-13body mass indexbody mass index (BMI) (CMO:0000105)22490844724908448Human
597149898GWAS1245972_Hsystolic blood pressure QTL GWAS1245972 (human)5e-08systolic blood pressuresystolic blood pressure (CMO:0000004)22491472524914726Human
406958620GWAS607596_Hdiastolic blood pressure QTL GWAS607596 (human)7e-11diastolic blood pressurediastolic blood pressure (CMO:0000005)22491672724916728Human
597225670GWAS1321744_Hchronotype measurement QTL GWAS1321744 (human)1e-08sleep behavior trait (VT:0001501)22489945524899456Human
597180411GWAS1276485_Hbody mass index QTL GWAS1276485 (human)3e-12body mass indexbody mass index (BMI) (CMO:0000105)22482232624822327Human
597142514GWAS1238588_HC-reactive protein measurement QTL GWAS1238588 (human)8e-10C-reactive protein measurementblood C-reactive protein level (CMO:0003160)22483095924830960Human
597090547GWAS1186621_Hmammographic density measurement QTL GWAS1186621 (human)1e-10mammographic density measurement22490830124908302Human
597190646GWAS1286720_Hsexual dimorphism measurement QTL GWAS1286720 (human)2e-11sexual dimorphism measurement22483007824830084Human
597023738GWAS1119812_Hbreast carcinoma QTL GWAS1119812 (human)3e-12mammary gland integrity trait (VT:0010552)22490660424906605Human
597333225GWAS1429299_Hvisceral:abdominal adipose tissue ratio measurement QTL GWAS1429299 (human)7e-10visceral:abdominal adipose tissue ratio measurement22485940424859405Human
597124335GWAS1220409_Hbody mass index QTL GWAS1220409 (human)2e-21body mass indexbody mass index (BMI) (CMO:0000105)22491866924918670Human
597316576GWAS1412650_Hbody mass index QTL GWAS1412650 (human)7e-10body mass indexbody mass index (BMI) (CMO:0000105)22491866924918670Human
597147883GWAS1243957_Hhigh density lipoprotein cholesterol measurement QTL GWAS1243957 (human)2e-10high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)22491517124915172Human
597316581GWAS1412655_Hbody mass index QTL GWAS1412655 (human)9e-08body mass indexbody mass index (BMI) (CMO:0000105)22491866924918670Human
597315099GWAS1411173_Hbody mass index QTL GWAS1411173 (human)0.000007body mass indexbody mass index (BMI) (CMO:0000105)22490998624909987Human
407001030GWAS650006_Hsystolic blood pressure QTL GWAS650006 (human)0.000008systolic blood pressuresystolic blood pressure (CMO:0000004)22490767324907674Human
597038622GWAS1134696_Hbody mass index QTL GWAS1134696 (human)1e-10body mass indexbody mass index (BMI) (CMO:0000105)22491866924918670Human
407003087GWAS652063_Hbody mass index QTL GWAS652063 (human)7e-67body mass indexbody mass index (BMI) (CMO:0000105)22491399724913998Human
597149446GWAS1245520_Hsmoking initiation QTL GWAS1245520 (human)4e-15smoking initiation22491866924918670Human
597149445GWAS1245519_Hsmoking initiation QTL GWAS1245519 (human)6e-10smoking initiation22490452524904526Human
596958727GWAS1078246_Hbody height QTL GWAS1078246 (human)1e-300body height22489001624890017Human
406960344GWAS609320_Hreticulocyte count QTL GWAS609320 (human)5e-10reticulocyte quantity (VT:0003135)total reticulocyte count (CMO:0003020)22486885224868853Human
597019916GWAS1115990_Hsex interaction measurement, body mass index, age at assessment QTL GWAS1115990 (human)5e-26sex interaction measurement, body mass index, age at assessmentbody mass index (BMI) (CMO:0000105)22491517124915172Human
597141773GWAS1237847_Hcaproate 6:0 measurement QTL GWAS1237847 (human)0.0000002caproate 6:0 measurement22486790524867906Human
406969823GWAS618799_Hbody mass index QTL GWAS618799 (human)7e-23body mass indexbody mass index (BMI) (CMO:0000105)22491866924918670Human
597113394GWAS1209468_Hbody mass index QTL GWAS1209468 (human)0.0000007body mass indexbody mass index (BMI) (CMO:0000105)22491866924918670Human
597316406GWAS1412480_Hbody mass index QTL GWAS1412480 (human)4e-10body mass indexbody mass index (BMI) (CMO:0000105)22491866924918670Human
597019960GWAS1116034_Hbody mass index QTL GWAS1116034 (human)3e-24body mass indexbody mass index (BMI) (CMO:0000105)22491517124915172Human
597316643GWAS1412717_Hbody mass index QTL GWAS1412717 (human)4e-13body mass indexbody mass index (BMI) (CMO:0000105)22491866924918670Human
597233190GWAS1329264_Happendicular lean mass QTL GWAS1329264 (human)1e-11appendicular lean mass22483095924830960Human
597110871GWAS1206945_Hbody mass index QTL GWAS1206945 (human)3e-09body mass indexbody mass index (BMI) (CMO:0000105)22491114024911141Human
597068118GWAS1164192_Hbody mass index QTL GWAS1164192 (human)0.0000003body mass indexbody mass index (BMI) (CMO:0000105)22491404724914048Human
597046615GWAS1142689_HC-reactive protein measurement QTL GWAS1142689 (human)5e-20C-reactive protein measurementblood C-reactive protein level (CMO:0003160)22491399724913998Human
406943362GWAS592338_Hobese body mass index status QTL GWAS592338 (human)9e-23obese body mass index statusbody mass index (BMI) (CMO:0000105)22491256924912570Human
597188956GWAS1285030_Hforced expiratory volume QTL GWAS1285030 (human)8e-16forced expiratory volumeforced expiratory volume (CMO:0000254)22486395824863959Human
597142611GWAS1238685_HAntihypertensive use measurement QTL GWAS1238685 (human)5e-10Antihypertensive use measurement22488742024887421Human
597091932GWAS1188006_Hinflammatory bowel disease QTL GWAS1188006 (human)2e-20inflammatory bowel disease22487477524874776Human
407039625GWAS688601_Hbody mass index QTL GWAS688601 (human)1e-10body mass indexbody mass index (BMI) (CMO:0000105)22490844724908448Human
597110873GWAS1206947_Hbody mass index QTL GWAS1206947 (human)2e-09body mass indexbody mass index (BMI) (CMO:0000105)22491114024911141Human
597059161GWAS1155235_HFEV/FVC ratio QTL GWAS1155235 (human)1e-12FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)22491404724914048Human
597062214GWAS1158288_Hbody mass index QTL GWAS1158288 (human)2e-12body mass indexbody mass index (BMI) (CMO:0000105)22489997124899972Human
597111110GWAS1207184_Hbody mass index QTL GWAS1207184 (human)6e-08body mass indexbody mass index (BMI) (CMO:0000105)22491114024911141Human
597111109GWAS1207183_Hbody mass index QTL GWAS1207183 (human)3e-08body mass indexbody mass index (BMI) (CMO:0000105)22491114024911141Human
597111105GWAS1207179_Hbody mass index QTL GWAS1207179 (human)8e-13body mass indexbody mass index (BMI) (CMO:0000105)22491114024911141Human
597053516GWAS1149590_Hmultiple sclerosis QTL GWAS1149590 (human)5e-10multiple sclerosis22482930824829309Human
597111113GWAS1207187_Hbody mass index QTL GWAS1207187 (human)0.000004body mass indexbody mass index (BMI) (CMO:0000105)22491114024911141Human
406916257GWAS565233_Hdiastolic blood pressure QTL GWAS565233 (human)1e-08diastolic blood pressurediastolic blood pressure (CMO:0000005)22491114024911141Human
597019765GWAS1115839_Hbody mass index QTL GWAS1115839 (human)6e-20body mass indexbody mass index (BMI) (CMO:0000105)22491517124915172Human
407085223GWAS734199_Hbody mass index QTL GWAS734199 (human)8e-43body mass indexbody mass index (BMI) (CMO:0000105)22491399724913998Human
597047667GWAS1143741_Hbreast carcinoma QTL GWAS1143741 (human)5e-11mammary gland integrity trait (VT:0010552)22490660424906605Human
597019762GWAS1115836_Hbody mass index QTL GWAS1115836 (human)5e-09body mass indexbody mass index (BMI) (CMO:0000105)22491517124915172Human
597316210GWAS1412284_Hbody mass index QTL GWAS1412284 (human)4e-18body mass indexbody mass index (BMI) (CMO:0000105)22491866924918670Human
407060137GWAS709113_Hinflammatory bowel disease QTL GWAS709113 (human)6e-16inflammatory bowel disease22489601624896017Human
597110396GWAS1206470_Hreticulocyte count QTL GWAS1206470 (human)1e-11reticulocyte quantity (VT:0003135)total reticulocyte count (CMO:0003020)22486885224868853Human
407115183GWAS764159_Hdentures QTL GWAS764159 (human)0.0000002dentures22491866924918670Human
597178995GWAS1275069_Hbody mass index QTL GWAS1275069 (human)2e-90body mass indexbody mass index (BMI) (CMO:0000105)22491866924918670Human
597311598GWAS1407672_HBMI-adjusted waist circumference QTL GWAS1407672 (human)5e-14body size trait (VT:0100005)22485353524853536Human
597311599GWAS1407673_HBMI-adjusted waist circumference QTL GWAS1407673 (human)2e-10body size trait (VT:0100005)22491404724914048Human
597185390GWAS1281464_Hvital capacity QTL GWAS1281464 (human)3e-26vital capacity22486395824863959Human
406954680GWAS603656_Hankylosing spondylitis, psoriasis, ulcerative colitis, Crohn's disease, sclerosing cholangitis QTL GWAS603656 (human)3e-18intestine integrity trait (VT:0010554)22487477524874776Human
597285220GWAS1381294_HC-reactive protein measurement QTL GWAS1381294 (human)1e-14C-reactive protein measurementblood C-reactive protein level (CMO:0003160)22488335624883357Human
597044328GWAS1140402_Happendicular lean mass QTL GWAS1140402 (human)9e-09appendicular lean mass22483363024833631Human
406967742GWAS616718_Hreticulocyte count QTL GWAS616718 (human)4e-09reticulocyte quantity (VT:0003135)total reticulocyte count (CMO:0003020)22486885224868853Human

Markers in Region
D2S2168  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37225,088,274 - 25,088,488UniSTSGRCh37
GRCh37329,000,356 - 29,000,662UniSTSGRCh37
Build 36224,941,778 - 24,941,992RGDNCBI36
Celera224,928,583 - 24,928,797RGD
Celera328,937,146 - 28,937,452UniSTS
Cytogenetic Map2p23.3UniSTS
HuRef149,021,736 - 49,022,315UniSTS
HuRef224,826,085 - 24,826,295UniSTS
Marshfield Genetic Map245.3RGD
Marshfield Genetic Map245.3UniSTS
Genethon Genetic Map248.0UniSTS
deCODE Assembly Map247.98UniSTS
Stanford-G3 RH Map2888.0UniSTS
Whitehead-YAC Contig Map2 UniSTS
NCBI RH Map2136.7UniSTS
GeneMap99-G3 RH Map2883.0UniSTS
D17S757  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371771,295,545 - 71,295,646UniSTSGRCh37
Build 361768,807,140 - 68,807,241RGDNCBI36
Celera1767,878,697 - 67,878,794RGD
Cytogenetic Map17q24-q25UniSTS
Cytogenetic Map2p23.3UniSTS
HuRef224,829,678 - 24,830,287UniSTS
HuRef1766,704,710 - 66,704,807UniSTS
Marshfield Genetic Map1793.98UniSTS
Marshfield Genetic Map1793.98RGD
deCODE Assembly Map17108.54UniSTS
D5S2617  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37225,042,643 - 25,042,784UniSTSGRCh37
Build 36224,896,147 - 24,896,288RGDNCBI36
Celera224,882,961 - 24,883,102RGD
Cytogenetic Map2p23.3UniSTS
HuRef224,780,469 - 24,780,610UniSTS
TNG Radiation Hybrid Map218553.0UniSTS
Stanford-G3 RH Map2878.0UniSTS
Whitehead-YAC Contig Map2 UniSTS
NCBI RH Map2141.7UniSTS
GeneMap99-G3 RH Map2873.0UniSTS
A006F11  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37225,042,090 - 25,042,286UniSTSGRCh37
Build 36224,895,594 - 24,895,790RGDNCBI36
Celera224,882,408 - 24,882,604RGD
Cytogenetic Map2p23.3UniSTS
HuRef224,779,916 - 24,780,112UniSTS
GeneMap99-GB4 RH Map288.1UniSTS
RH80427  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37225,042,099 - 25,042,307UniSTSGRCh37
Build 36224,895,603 - 24,895,811RGDNCBI36
Celera224,882,417 - 24,882,625RGD
Cytogenetic Map2p23.3UniSTS
HuRef224,779,925 - 24,780,133UniSTS
GeneMap99-GB4 RH Map287.9UniSTS
SHGC-150739  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37225,088,415 - 25,088,515UniSTSGRCh37
Build 36224,941,919 - 24,942,019RGDNCBI36
Celera224,928,724 - 24,928,824RGD
Cytogenetic Map2p23.3UniSTS
HuRef224,826,222 - 24,826,322UniSTS
TNG Radiation Hybrid Map218525.0UniSTS
ADCY3_1034  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37225,042,110 - 25,042,955UniSTSGRCh37
Build 36224,895,614 - 24,896,459RGDNCBI36
Celera224,882,428 - 24,883,273RGD
HuRef224,779,936 - 24,780,781UniSTS
ADCY3_2051  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37225,042,093 - 25,042,980UniSTSGRCh37
Build 36224,895,597 - 24,896,484RGDNCBI36
Celera224,882,411 - 24,883,298RGD
HuRef224,779,919 - 24,780,806UniSTS
RH36332  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37225,043,161 - 25,043,267UniSTSGRCh37
Build 36224,896,665 - 24,896,771RGDNCBI36
Celera224,883,479 - 24,883,585RGD
Cytogenetic Map2p23.3UniSTS
HuRef224,780,987 - 24,781,093UniSTS
GeneMap99-GB4 RH Map288.31UniSTS
WI-11275  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37225,045,101 - 25,045,203UniSTSGRCh37
Build 36224,898,605 - 24,898,707RGDNCBI36
Celera224,885,419 - 24,885,521RGD
Cytogenetic Map2p23.3UniSTS
HuRef224,782,927 - 24,783,029UniSTS
GeneMap99-GB4 RH Map297.79UniSTS
Whitehead-RH Map2142.7UniSTS
G32338  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37225,042,090 - 25,042,286UniSTSGRCh37
Celera224,882,408 - 24,882,604UniSTS
Cytogenetic Map2p23.3UniSTS
HuRef224,779,916 - 24,780,112UniSTS


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 1725 2350 5 623 1951 464 2270 7304 6471 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001320613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006711925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007068865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB011083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC012073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF033861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM148122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA864173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY136273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000260600   ⟹   ENSP00000260600
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl224,819,169 - 24,919,839 (-)Ensembl
Ensembl Acc Id: ENST00000405392   ⟹   ENSP00000384484
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl224,819,188 - 24,918,987 (-)Ensembl
Ensembl Acc Id: ENST00000427849   ⟹   ENSP00000399275
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl224,836,953 - 24,872,692 (-)Ensembl
Ensembl Acc Id: ENST00000433852   ⟹   ENSP00000401455
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl224,841,325 - 24,878,027 (-)Ensembl
Ensembl Acc Id: ENST00000435135   ⟹   ENSP00000389799
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl224,836,982 - 24,919,839 (-)Ensembl
Ensembl Acc Id: ENST00000438445   ⟹   ENSP00000406153
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl224,918,652 - 24,919,512 (-)Ensembl
Ensembl Acc Id: ENST00000450524
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl224,827,563 - 24,832,185 (-)Ensembl
Ensembl Acc Id: ENST00000454027
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl224,834,926 - 24,840,603 (-)Ensembl
Ensembl Acc Id: ENST00000455323   ⟹   ENSP00000402008
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl224,826,047 - 24,831,733 (-)Ensembl
Ensembl Acc Id: ENST00000479517
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl224,840,007 - 24,842,592 (-)Ensembl
Ensembl Acc Id: ENST00000485887
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl224,820,246 - 24,823,363 (-)Ensembl
Ensembl Acc Id: ENST00000498288   ⟹   ENSP00000476143
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl224,819,369 - 24,820,796 (-)Ensembl
Ensembl Acc Id: ENST00000606682   ⟹   ENSP00000475652
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl224,819,172 - 24,841,636 (-)Ensembl
Ensembl Acc Id: ENST00000679454   ⟹   ENSP00000505261
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl224,819,169 - 24,920,237 (-)Ensembl
RefSeq Acc Id: NM_001320613   ⟹   NP_001307542
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,819,169 - 24,920,237 (-)NCBI
CHM1_1224,971,569 - 25,072,400 (-)NCBI
T2T-CHM13v2.0224,853,918 - 24,954,979 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001377128   ⟹   NP_001364057
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,819,169 - 24,920,237 (-)NCBI
T2T-CHM13v2.0224,853,918 - 24,954,979 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001377129   ⟹   NP_001364058
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,819,169 - 24,920,237 (-)NCBI
T2T-CHM13v2.0224,853,918 - 24,954,979 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001377130   ⟹   NP_001364059
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,819,169 - 24,920,237 (-)NCBI
T2T-CHM13v2.0224,853,918 - 24,954,979 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001377131   ⟹   NP_001364060
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,819,169 - 24,887,182 (-)NCBI
T2T-CHM13v2.0224,853,918 - 24,921,924 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001377132   ⟹   NP_001364061
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,819,169 - 24,919,585 (-)NCBI
T2T-CHM13v2.0224,853,918 - 24,954,327 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004036   ⟹   NP_004027
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,819,169 - 24,920,237 (-)NCBI
GRCh37225,042,038 - 25,142,602 (-)NCBI
Build 36224,895,542 - 24,995,559 (-)NCBI Archive
HuRef224,779,864 - 24,880,170 (-)ENTREZGENE
CHM1_1224,971,569 - 25,072,400 (-)NCBI
T2T-CHM13v2.0224,853,918 - 24,954,979 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006711925   ⟹   XP_006711988
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,819,169 - 24,920,237 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011532489   ⟹   XP_011530791
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,819,169 - 24,920,237 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011532490   ⟹   XP_011530792
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,819,169 - 24,920,237 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011532491   ⟹   XP_011530793
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,819,169 - 24,920,237 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011532492   ⟹   XP_011530794
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,819,169 - 24,920,237 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011532493   ⟹   XP_011530795
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,819,169 - 24,920,237 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011532494   ⟹   XP_011530796
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,819,169 - 24,920,237 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017003187   ⟹   XP_016858676
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,819,169 - 24,920,237 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017003188   ⟹   XP_016858677
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,819,169 - 24,920,237 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017003189   ⟹   XP_016858678
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,819,169 - 24,920,237 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017003191   ⟹   XP_016858680
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,819,169 - 24,887,775 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047443005   ⟹   XP_047298961
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,819,169 - 24,920,237 (-)NCBI
RefSeq Acc Id: XM_047443006   ⟹   XP_047298962
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,819,169 - 24,920,237 (-)NCBI
RefSeq Acc Id: XM_047443007   ⟹   XP_047298963
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,819,169 - 24,920,237 (-)NCBI
RefSeq Acc Id: XM_047443008   ⟹   XP_047298964
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,819,169 - 24,920,237 (-)NCBI
RefSeq Acc Id: XM_047443009   ⟹   XP_047298965
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,819,169 - 24,920,237 (-)NCBI
RefSeq Acc Id: XM_047443010   ⟹   XP_047298966
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,819,169 - 24,920,237 (-)NCBI
RefSeq Acc Id: XM_047443011   ⟹   XP_047298967
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,819,169 - 24,920,237 (-)NCBI
RefSeq Acc Id: XM_047443012   ⟹   XP_047298968
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,819,169 - 24,920,237 (-)NCBI
RefSeq Acc Id: XM_047443013   ⟹   XP_047298969
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,819,169 - 24,920,237 (-)NCBI
RefSeq Acc Id: XM_047443014   ⟹   XP_047298970
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,819,169 - 24,920,237 (-)NCBI
RefSeq Acc Id: XM_047443015   ⟹   XP_047298971
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,819,169 - 24,878,026 (-)NCBI
RefSeq Acc Id: XM_047443016   ⟹   XP_047298972
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,819,169 - 24,887,780 (-)NCBI
RefSeq Acc Id: XM_054340227   ⟹   XP_054196202
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0224,853,918 - 24,954,979 (-)NCBI
RefSeq Acc Id: XM_054340228   ⟹   XP_054196203
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0224,853,918 - 24,954,979 (-)NCBI
RefSeq Acc Id: XM_054340229   ⟹   XP_054196204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0224,853,918 - 24,954,979 (-)NCBI
RefSeq Acc Id: XM_054340230   ⟹   XP_054196205
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0224,853,918 - 24,954,979 (-)NCBI
RefSeq Acc Id: XM_054340231   ⟹   XP_054196206
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0224,853,918 - 24,954,979 (-)NCBI
RefSeq Acc Id: XM_054340232   ⟹   XP_054196207
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0224,853,918 - 24,954,979 (-)NCBI
RefSeq Acc Id: XM_054340233   ⟹   XP_054196208
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0224,853,918 - 24,954,979 (-)NCBI
RefSeq Acc Id: XM_054340234   ⟹   XP_054196209
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0224,853,918 - 24,954,979 (-)NCBI
RefSeq Acc Id: XM_054340235   ⟹   XP_054196210
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0224,853,918 - 24,954,979 (-)NCBI
RefSeq Acc Id: XM_054340236   ⟹   XP_054196211
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0224,853,918 - 24,954,979 (-)NCBI
RefSeq Acc Id: XM_054340237   ⟹   XP_054196212
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0224,853,918 - 24,954,979 (-)NCBI
RefSeq Acc Id: XM_054340238   ⟹   XP_054196213
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0224,853,918 - 24,954,979 (-)NCBI
RefSeq Acc Id: XM_054340239   ⟹   XP_054196214
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0224,853,918 - 24,954,979 (-)NCBI
RefSeq Acc Id: XM_054340240   ⟹   XP_054196215
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0224,853,918 - 24,954,979 (-)NCBI
RefSeq Acc Id: XM_054340241   ⟹   XP_054196216
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0224,853,918 - 24,954,979 (-)NCBI
RefSeq Acc Id: XM_054340242   ⟹   XP_054196217
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0224,853,918 - 24,954,979 (-)NCBI
RefSeq Acc Id: XM_054340243   ⟹   XP_054196218
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0224,853,918 - 24,954,979 (-)NCBI
RefSeq Acc Id: XM_054340244   ⟹   XP_054196219
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0224,853,918 - 24,954,979 (-)NCBI
RefSeq Acc Id: XM_054340245   ⟹   XP_054196220
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0224,853,918 - 24,954,979 (-)NCBI
RefSeq Acc Id: XM_054340246   ⟹   XP_054196221
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0224,853,918 - 24,954,979 (-)NCBI
RefSeq Acc Id: XM_054340247   ⟹   XP_054196222
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0224,853,918 - 24,922,517 (-)NCBI
RefSeq Acc Id: XM_054340248   ⟹   XP_054196223
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0224,853,918 - 24,912,770 (-)NCBI
RefSeq Acc Id: XM_054340249   ⟹   XP_054196224
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0224,853,918 - 24,922,522 (-)NCBI
RefSeq Acc Id: XR_007068865
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,819,169 - 24,920,237 (-)NCBI
RefSeq Acc Id: XR_008486253
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0224,853,918 - 24,954,979 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001307542 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364057 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364058 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364059 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364060 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364061 (Get FASTA)   NCBI Sequence Viewer  
  NP_004027 (Get FASTA)   NCBI Sequence Viewer  
  XP_006711988 (Get FASTA)   NCBI Sequence Viewer  
  XP_011530791 (Get FASTA)   NCBI Sequence Viewer  
  XP_011530792 (Get FASTA)   NCBI Sequence Viewer  
  XP_011530793 (Get FASTA)   NCBI Sequence Viewer  
  XP_011530794 (Get FASTA)   NCBI Sequence Viewer  
  XP_011530795 (Get FASTA)   NCBI Sequence Viewer  
  XP_011530796 (Get FASTA)   NCBI Sequence Viewer  
  XP_016858676 (Get FASTA)   NCBI Sequence Viewer  
  XP_016858677 (Get FASTA)   NCBI Sequence Viewer  
  XP_016858678 (Get FASTA)   NCBI Sequence Viewer  
  XP_016858680 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298961 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298962 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298963 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298964 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298965 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298966 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298967 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298968 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298969 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298970 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298971 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298972 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196202 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196203 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196204 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196205 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196206 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196207 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196208 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196209 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196210 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196211 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196212 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196213 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196214 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196215 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196216 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196217 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196218 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196219 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196220 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196221 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196222 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196223 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196224 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD13403 (Get FASTA)   NCBI Sequence Viewer  
  AAI26236 (Get FASTA)   NCBI Sequence Viewer  
  AAI44120 (Get FASTA)   NCBI Sequence Viewer  
  AAY14787 (Get FASTA)   NCBI Sequence Viewer  
  BAA25437 (Get FASTA)   NCBI Sequence Viewer  
  BAC11613 (Get FASTA)   NCBI Sequence Viewer  
  BAG51385 (Get FASTA)   NCBI Sequence Viewer  
  BAG52998 (Get FASTA)   NCBI Sequence Viewer  
  BAG53802 (Get FASTA)   NCBI Sequence Viewer  
  EAX00739 (Get FASTA)   NCBI Sequence Viewer  
  EAX00740 (Get FASTA)   NCBI Sequence Viewer  
  EAX00741 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000260600
  ENSP00000260600.5
  ENSP00000384484
  ENSP00000475652
  ENSP00000505261
  ENSP00000505261.1
GenBank Protein O60266 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_004027   ⟸   NM_004036
- Peptide Label: isoform 2
- UniProtKB: Q53T54 (UniProtKB/Swiss-Prot),   B3KT86 (UniProtKB/Swiss-Prot),   Q9UDB1 (UniProtKB/Swiss-Prot),   O60266 (UniProtKB/Swiss-Prot),   B7ZLX9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006711988   ⟸   XM_006711925
- Peptide Label: isoform X3
- UniProtKB: B7ZLX9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011530793   ⟸   XM_011532491
- Peptide Label: isoform X4
- UniProtKB: B7ZLX9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011530796   ⟸   XM_011532494
- Peptide Label: isoform X13
- UniProtKB: B3KNM3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011530795   ⟸   XM_011532493
- Peptide Label: isoform X9
- UniProtKB: B3KNM3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011530792   ⟸   XM_011532490
- Peptide Label: isoform X2
- UniProtKB: B7ZLX9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011530791   ⟸   XM_011532489
- Peptide Label: isoform X1
- UniProtKB: B7ZLX9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011530794   ⟸   XM_011532492
- Peptide Label: isoform X6
- UniProtKB: B7ZLX9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307542   ⟸   NM_001320613
- Peptide Label: isoform 1
- UniProtKB: A0A0A0MSC1 (UniProtKB/TrEMBL),   B7ZLX9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016858676   ⟸   XM_017003187
- Peptide Label: isoform X5
- UniProtKB: B7ZLX9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016858678   ⟸   XM_017003189
- Peptide Label: isoform X10
- UniProtKB: B3KNM3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016858677   ⟸   XM_017003188
- Peptide Label: isoform X7
- UniProtKB: B7ZLX9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016858680   ⟸   XM_017003191
- Peptide Label: isoform X21
- UniProtKB: U3KQ91 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001364059   ⟸   NM_001377130
- Peptide Label: isoform 5
- UniProtKB: B3KNM3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001364058   ⟸   NM_001377129
- Peptide Label: isoform 4
- UniProtKB: B3KNM3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001364057   ⟸   NM_001377128
- Peptide Label: isoform 3
- UniProtKB: B7ZLX9 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001364061   ⟸   NM_001377132
- Peptide Label: isoform 2
- UniProtKB: Q53T54 (UniProtKB/Swiss-Prot),   O60266 (UniProtKB/Swiss-Prot),   B3KT86 (UniProtKB/Swiss-Prot),   Q9UDB1 (UniProtKB/Swiss-Prot),   B7ZLX9 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001364060   ⟸   NM_001377131
- Peptide Label: isoform 6
- UniProtKB: U3KQ91 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000406153   ⟸   ENST00000438445
Ensembl Acc Id: ENSP00000399275   ⟸   ENST00000427849
Ensembl Acc Id: ENSP00000402008   ⟸   ENST00000455323
Ensembl Acc Id: ENSP00000476143   ⟸   ENST00000498288
Ensembl Acc Id: ENSP00000384484   ⟸   ENST00000405392
Ensembl Acc Id: ENSP00000260600   ⟸   ENST00000260600
Ensembl Acc Id: ENSP00000401455   ⟸   ENST00000433852
Ensembl Acc Id: ENSP00000475652   ⟸   ENST00000606682
Ensembl Acc Id: ENSP00000389799   ⟸   ENST00000435135
Ensembl Acc Id: ENSP00000505261   ⟸   ENST00000679454
RefSeq Acc Id: XP_047298970   ⟸   XM_047443014
- Peptide Label: isoform X20
- UniProtKB: B3KNM3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298968   ⟸   XM_047443012
- Peptide Label: isoform X18
- UniProtKB: B3KNM3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298965   ⟸   XM_047443009
- Peptide Label: isoform X15
- UniProtKB: B7ZLX9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298966   ⟸   XM_047443010
- Peptide Label: isoform X16
- UniProtKB: B7ZLX9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298964   ⟸   XM_047443008
- Peptide Label: isoform X14
- UniProtKB: B3KNM3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298969   ⟸   XM_047443013
- Peptide Label: isoform X19
- UniProtKB: B3KNM3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298963   ⟸   XM_047443007
- Peptide Label: isoform X12
- UniProtKB: B7ZLX9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298962   ⟸   XM_047443006
- Peptide Label: isoform X11
- UniProtKB: B7ZLX9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298967   ⟸   XM_047443011
- Peptide Label: isoform X17
- UniProtKB: B3KNM3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298961   ⟸   XM_047443005
- Peptide Label: isoform X8
- UniProtKB: B7ZLX9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298972   ⟸   XM_047443016
- Peptide Label: isoform X23
- UniProtKB: U3KQ91 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298971   ⟸   XM_047443015
- Peptide Label: isoform X22
- UniProtKB: U3KQ91 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196221   ⟸   XM_054340246
- Peptide Label: isoform X20
- UniProtKB: B3KNM3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196219   ⟸   XM_054340244
- Peptide Label: isoform X18
- UniProtKB: B3KNM3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196216   ⟸   XM_054340241
- Peptide Label: isoform X15
- UniProtKB: B7ZLX9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196217   ⟸   XM_054340242
- Peptide Label: isoform X16
- UniProtKB: B7ZLX9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196215   ⟸   XM_054340240
- Peptide Label: isoform X14
- UniProtKB: B3KNM3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196206   ⟸   XM_054340231
- Peptide Label: isoform X5
- UniProtKB: B7ZLX9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196205   ⟸   XM_054340230
- Peptide Label: isoform X4
- UniProtKB: B7ZLX9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196214   ⟸   XM_054340239
- Peptide Label: isoform X13
- UniProtKB: B3KNM3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196220   ⟸   XM_054340245
- Peptide Label: isoform X19
- UniProtKB: B3KNM3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196213   ⟸   XM_054340238
- Peptide Label: isoform X12
- UniProtKB: B7ZLX9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196204   ⟸   XM_054340229
- Peptide Label: isoform X3
- UniProtKB: B7ZLX9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196212   ⟸   XM_054340237
- Peptide Label: isoform X11
- UniProtKB: B7ZLX9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196211   ⟸   XM_054340236
- Peptide Label: isoform X10
- UniProtKB: B3KNM3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196218   ⟸   XM_054340243
- Peptide Label: isoform X17
- UniProtKB: B3KNM3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196210   ⟸   XM_054340235
- Peptide Label: isoform X9
- UniProtKB: B3KNM3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196203   ⟸   XM_054340228
- Peptide Label: isoform X2
- UniProtKB: B7ZLX9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196208   ⟸   XM_054340233
- Peptide Label: isoform X7
- UniProtKB: B7ZLX9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196202   ⟸   XM_054340227
- Peptide Label: isoform X1
- UniProtKB: B7ZLX9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196207   ⟸   XM_054340232
- Peptide Label: isoform X6
- UniProtKB: B7ZLX9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196209   ⟸   XM_054340234
- Peptide Label: isoform X8
- UniProtKB: B7ZLX9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196224   ⟸   XM_054340249
- Peptide Label: isoform X23
- UniProtKB: U3KQ91 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196222   ⟸   XM_054340247
- Peptide Label: isoform X21
- UniProtKB: U3KQ91 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196223   ⟸   XM_054340248
- Peptide Label: isoform X22
- UniProtKB: U3KQ91 (UniProtKB/TrEMBL)
Protein Domains
Guanylate cyclase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O60266-F1-model_v2 AlphaFold O60266 1-1144 view protein structure

Promoters
RGD ID:6796743
Promoter ID:HG_KWN:31785
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000324652
Position:
Human AssemblyChrPosition (strand)Source
Build 36224,896,691 - 24,898,002 (-)MPROMDB
RGD ID:6796742
Promoter ID:HG_KWN:31786
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000324651
Position:
Human AssemblyChrPosition (strand)Source
Build 36224,899,301 - 24,900,717 (-)MPROMDB
RGD ID:6796745
Promoter ID:HG_KWN:31787
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:OTTHUMT00000325145,   OTTHUMT00000325146
Position:
Human AssemblyChrPosition (strand)Source
Build 36224,908,801 - 24,909,392 (-)MPROMDB
RGD ID:6796747
Promoter ID:HG_KWN:31789
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC002RFR.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36224,917,811 - 24,918,311 (-)MPROMDB
RGD ID:6859792
Promoter ID:EPDNEW_H3060
Type:initiation region
Name:ADCY3_1
Description:adenylate cyclase 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,919,905 - 24,919,965EPDNEW
RGD ID:6796744
Promoter ID:HG_KWN:31791
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000325143
Position:
Human AssemblyChrPosition (strand)Source
Build 36224,948,581 - 24,949,081 (-)MPROMDB
RGD ID:6811842
Promoter ID:HG_ACW:43367
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ADCY3.KAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36224,963,066 - 24,963,566 (-)MPROMDB
RGD ID:6796737
Promoter ID:HG_KWN:31793
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000211574,   OTTHUMT00000324645,   OTTHUMT00000324647
Position:
Human AssemblyChrPosition (strand)Source
Build 36224,995,531 - 24,997,122 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:234 AgrOrtholog
COSMIC ADCY3 COSMIC
Ensembl Genes ENSG00000138031 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000260600 ENTREZGENE
  ENST00000260600.9 UniProtKB/Swiss-Prot
  ENST00000405392 ENTREZGENE
  ENST00000606682 ENTREZGENE
  ENST00000679454 ENTREZGENE
  ENST00000679454.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.70.1230 UniProtKB/Swiss-Prot
GTEx ENSG00000138031 GTEx
HGNC ID HGNC:234 ENTREZGENE
Human Proteome Map ADCY3 Human Proteome Map
InterPro A/G_cyclase UniProtKB/Swiss-Prot
  A/G_cyclase_CS UniProtKB/Swiss-Prot
  AC_N UniProtKB/Swiss-Prot
  Adcy UniProtKB/Swiss-Prot
  Nucleotide_cyclase UniProtKB/Swiss-Prot
KEGG Report hsa:109 UniProtKB/Swiss-Prot
NCBI Gene 109 ENTREZGENE
OMIM 600291 OMIM
PANTHER ADENYLATE CYCLASE TYPE 1 UniProtKB/Swiss-Prot
  ADENYLATE CYCLASE TYPE 3 UniProtKB/Swiss-Prot
Pfam AC_N UniProtKB/Swiss-Prot
  Guanylate_cyc UniProtKB/Swiss-Prot
PharmGKB PA164741137 PharmGKB
PIRSF Ade_cyc UniProtKB/Swiss-Prot
PROSITE GUANYLATE_CYCLASE_1 UniProtKB/Swiss-Prot
  GUANYLATE_CYCLASE_2 UniProtKB/Swiss-Prot
SMART CYCc UniProtKB/Swiss-Prot
Superfamily-SCOP SSF55073 UniProtKB/Swiss-Prot
UniProt A0A0A0MSC1 ENTREZGENE, UniProtKB/TrEMBL
  ADCY3_HUMAN UniProtKB/Swiss-Prot
  B3KNM3 ENTREZGENE, UniProtKB/TrEMBL
  B3KT86 ENTREZGENE
  B7ZLX9 ENTREZGENE, UniProtKB/TrEMBL
  C9J969_HUMAN UniProtKB/TrEMBL
  C9JLX3_HUMAN UniProtKB/TrEMBL
  C9JYB5_HUMAN UniProtKB/TrEMBL
  H7C1A6_HUMAN UniProtKB/TrEMBL
  O60266 ENTREZGENE
  Q53T54 ENTREZGENE
  Q9UDB1 ENTREZGENE
  U3KQ91 ENTREZGENE, UniProtKB/TrEMBL
  U3KQR1_HUMAN UniProtKB/TrEMBL
UniProt Secondary B3KT86 UniProtKB/Swiss-Prot
  Q53T54 UniProtKB/Swiss-Prot
  Q9UDB1 UniProtKB/Swiss-Prot