ADCY5 (adenylate cyclase 5) - Rat Genome Database

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Gene: ADCY5 (adenylate cyclase 5) Homo sapiens
Analyze
Symbol: ADCY5
Name: adenylate cyclase 5
RGD ID: 736882
HGNC Page HGNC:236
Description: Enables adenylate cyclase activity. Involved in several processes, including cAMP biosynthetic process; cellular response to forskolin; and regulation of insulin secretion involved in cellular response to glucose stimulus. Located in membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AC5; adenylate cyclase type 5; adenylate cyclase type V; adenylate cyclase, type V; adenylyl cyclase 5; ATP pyrophosphate-lyase 5; DSKOD; FDFM
RGD Orthologs
Mouse
Rat
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
GRCh383123,282,296 - 123,449,090 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3123,282,296 - 123,449,090 (-)EnsemblGRCh38hg38GRCh38
GRCh373123,001,143 - 123,167,937 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363124,486,089 - 124,650,082 (-)NCBINCBI36Build 36hg18NCBI36
Build 343124,486,088 - 124,650,082NCBI
Celera3121,410,492 - 121,574,947 (-)NCBICelera
Cytogenetic Map3q21.1ENTREZGENE
HuRef3120,374,350 - 120,540,687 (-)NCBIHuRef
CHM1_13122,964,827 - 123,131,019 (-)NCBICHM1_1
T2T-CHM13v2.03126,002,377 - 126,169,667 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
1-[3-(dimethylamino)propyl]-1-(4-fluorophenyl)-1,3-dihydro-2-benzofuran-5-carbonitrile  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
acetamide  (ISO)
acetylcholine  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
alpha-Zearalanol  (ISO)
aristolochic acid A  (EXP)
arsenite(3-)  (ISO)
atrazine  (ISO)
atropine  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
bisphenol AF  (ISO)
bisphenol F  (ISO)
cadmium dichloride  (EXP)
caffeine  (ISO)
calcium atom  (EXP,ISO)
calcium(0)  (EXP,ISO)
cannabidiol  (ISO)
cannabigerol  (ISO)
cantharidin  (ISO)
carbachol  (ISO)
carbon nanotube  (ISO)
CGS-21680  (ISO)
chlordecone  (ISO)
citalopram  (ISO)
clozapine  (ISO)
colforsin daropate hydrochloride  (ISO)
crocidolite asbestos  (ISO)
DDE  (EXP)
decabromodiphenyl ether  (ISO)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dichlorine  (ISO)
endosulfan  (ISO)
escitalopram  (ISO)
ethanol  (ISO)
folic acid  (ISO)
formaldehyde  (ISO)
fulvestrant  (EXP)
genistein  (ISO)
haloperidol  (ISO)
isoprenaline  (ISO)
lipopolysaccharide  (ISO)
magnesium atom  (EXP)
methapyrilene  (EXP)
monosodium L-glutamate  (ISO)
nitrofen  (ISO)
O-methyleugenol  (EXP)
ozone  (ISO)
paraquat  (ISO)
perfluorooctanoic acid  (ISO)
phenylephrine  (ISO)
PhIP  (ISO)
pioglitazone  (ISO)
progesterone  (ISO)
quinpirole  (ISO)
SCH 23390  (ISO)
silicon dioxide  (EXP)
SKF 38393  (ISO)
sodium arsenite  (EXP)
sulpiride  (ISO)
sunitinib  (EXP)
titanium dioxide  (ISO)
triclosan  (ISO)
tropan-3alpha-yl 3-hydroxy-2-phenylpropanoate  (ISO)
valproic acid  (EXP,ISO)
XL147  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cell projection  (IEA)
cilium  (IEA,ISS)
endosome  (ISO)
membrane  (IDA,IEA)
plasma membrane  (IBA,IEA,ISS,TAS)
sarcolemma  (ISO)

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Effect of beta-adrenoceptor antagonist and angiotensin-converting enzyme inhibitor on hypertension-associated changes in adenylyl cyclase type V messenger RNA expression in spontaneously hypertensive rats. Fujino T, etal., J Cardiovasc Pharmacol. 2003 May;41(5):720-5.
2. Cellular localization of type 5 and type 6 ACs in collecting duct and regulation of cAMP synthesis. Helies-Toussaint C, etal., Am J Physiol Renal Physiol. 2000 Jul;279(1):F185-94.
3. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
4. Glucagon-mediated internalization of serine-phosphorylated glucagon receptor and Gsalpha in rat liver. Merlen C, etal., FEBS Lett. 2006 Oct 16;580(24):5697-704. Epub 2006 Sep 20.
5. Sensing Positive versus Negative Reward Signals through Adenylyl Cyclase-Coupled GPCRs in Direct and Indirect Pathway Striatal Medium Spiny Neurons. Nair AG, etal., J Neurosci. 2015 Oct 14;35(41):14017-30. doi: 10.1523/JNEUROSCI.0730-15.2015.
6. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
7. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
8. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
9. Increased expression of adenylyl cyclase isoforms in the adrenal gland of diabetic Goto-Kakizaki rat. Portela-Gomes GM, etal., Appl Immunohistochem Mol Morphol. 2002 Dec;10(4):387-92.
10. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
11. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
12. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
13. 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.
Additional References at PubMed
PMID:8034296   PMID:8663304   PMID:9268375   PMID:9748257   PMID:10089566   PMID:10481931   PMID:10807185   PMID:10808179   PMID:11549699   PMID:11590159   PMID:11884542   PMID:12503609  
PMID:12604604   PMID:14702039   PMID:14993377   PMID:15385642   PMID:16641997   PMID:16973443   PMID:17110384   PMID:19783621   PMID:20081857   PMID:20081858   PMID:20231277   PMID:20372150  
PMID:20419449   PMID:20484983   PMID:20490451   PMID:20571754   PMID:20889853   PMID:21115086   PMID:21228062   PMID:21307140   PMID:21712988   PMID:21789219   PMID:21873635   PMID:21887289  
PMID:21949744   PMID:22250198   PMID:22581228   PMID:22693455   PMID:22956255   PMID:23202124   PMID:23251661   PMID:23278386   PMID:23841650   PMID:24509480   PMID:24700542   PMID:24740569  
PMID:25049074   PMID:25521004   PMID:25545163   PMID:25793868   PMID:26023182   PMID:26085604   PMID:26686870   PMID:27049325   PMID:27061943   PMID:27666935   PMID:27931826   PMID:28229249  
PMID:28442302   PMID:28511835   PMID:28684635   PMID:28877031   PMID:29680308   PMID:30021884   PMID:30172639   PMID:30345538   PMID:30975617   PMID:31383240   PMID:31628766   PMID:32163478  
PMID:32647899   PMID:33493164   PMID:33684620   PMID:33704598   PMID:33934385   PMID:34169461   PMID:35288007   PMID:36233117   PMID:36610259   PMID:36688959   PMID:38589608  


Genomics

Comparative Map Data
ADCY5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383123,282,296 - 123,449,090 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3123,282,296 - 123,449,090 (-)EnsemblGRCh38hg38GRCh38
GRCh373123,001,143 - 123,167,937 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363124,486,089 - 124,650,082 (-)NCBINCBI36Build 36hg18NCBI36
Build 343124,486,088 - 124,650,082NCBI
Celera3121,410,492 - 121,574,947 (-)NCBICelera
Cytogenetic Map3q21.1ENTREZGENE
HuRef3120,374,350 - 120,540,687 (-)NCBIHuRef
CHM1_13122,964,827 - 123,131,019 (-)NCBICHM1_1
T2T-CHM13v2.03126,002,377 - 126,169,667 (-)NCBIT2T-CHM13v2.0
Adcy5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391634,974,933 - 35,126,108 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1634,975,247 - 35,126,108 (+)EnsemblGRCm39 Ensembl
GRCm381635,154,494 - 35,305,743 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1635,154,877 - 35,305,738 (+)EnsemblGRCm38mm10GRCm38
MGSCv371635,155,722 - 35,304,635 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361635,074,624 - 35,225,482 (+)NCBIMGSCv36mm8
Celera1635,623,764 - 35,773,605 (+)NCBICelera
Cytogenetic Map16B3NCBI
cM Map1624.71NCBI
Adcy5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81178,976,861 - 79,123,343 (-)NCBIGRCr8
mRatBN7.21165,471,612 - 65,618,877 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1165,471,612 - 65,618,974 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1174,293,894 - 74,441,081 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01166,956,169 - 67,103,380 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01165,987,453 - 66,134,656 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01168,695,839 - 68,842,452 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1168,695,839 - 68,842,320 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01171,787,104 - 71,933,971 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41167,290,968 - 67,437,468 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11167,348,556 - 67,495,057 (-)NCBI
Celera1164,930,432 - 65,076,790 (-)NCBICelera
Cytogenetic Map11q22NCBI
ADCY5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22121,235,483 - 121,402,587 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13121,241,907 - 121,407,362 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03120,380,094 - 120,545,725 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13127,281,603 - 127,446,504 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3127,283,921 - 127,446,508 (-)Ensemblpanpan1.1panPan2
ADCY5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13326,345,617 - 26,490,120 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3326,345,617 - 26,504,616 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3326,367,988 - 26,513,164 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03326,577,319 - 26,724,145 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3326,578,830 - 26,724,145 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13326,374,397 - 26,519,530 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03326,418,883 - 26,564,205 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03326,977,815 - 27,020,671 (-)NCBIUU_Cfam_GSD_1.0
Adcy5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405602127,842,824 - 127,989,489 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367251,751,266 - 1,897,946 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367251,751,272 - 1,897,937 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ADCY5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13136,972,801 - 137,135,347 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113136,965,746 - 137,133,795 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213146,590,223 - 146,680,465 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ADCY5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12257,427,711 - 57,589,440 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666041108,759,225 - 108,922,808 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Adcy5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046249121,632,107 - 1,768,462 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046249121,632,469 - 1,767,885 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ADCY5
791 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_183357.3(ADCY5):c.3274G>A (p.Glu1092Lys) single nucleotide variant not provided [RCV000519316] Chr3:123291166 [GRCh38]
Chr3:123010013 [GRCh37]
Chr3:3q21.1		 uncertain significance
ADCY5, ALA726THR single nucleotide variant Dyskinesia, familial, with facial myokymia [RCV000030679] Chr3:3q13.2-q21 pathogenic
NM_183357.3(ADCY5):c.2559+219_2559+233del deletion not provided [RCV001544819] Chr3:123303834..123303848 [GRCh38]
Chr3:123022681..123022695 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2931-31C>G single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV001549078]|not provided [RCV001647418]|not specified [RCV004598027] Chr3:123296247 [GRCh38]
Chr3:123015094 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.416_429del (p.Ser139fs) microsatellite not provided [RCV000627505] Chr3:123448117..123448130 [GRCh38]
Chr3:123166964..123166977 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_183357.3(ADCY5):c.2758G>T (p.Ala920Ser) single nucleotide variant Inborn genetic diseases [RCV004023558]|not provided [RCV000519457] Chr3:123300262 [GRCh38]
Chr3:123019109 [GRCh37]
Chr3:3q21.1		 uncertain significance
GRCh38/hg38 3q13.33-21.2(chr3:121644209-125676353)x1 copy number loss See cases [RCV000051569] Chr3:121644209..125676353 [GRCh38]
Chr3:121363056..125395197 [GRCh37]
Chr3:122845746..126877887 [NCBI36]
Chr3:3q13.33-21.2		 pathogenic
GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1 copy number loss See cases [RCV000051546] Chr3:119117166..125920734 [GRCh38]
Chr3:118836013..125639577 [GRCh37]
Chr3:120318703..127122267 [NCBI36]
Chr3:3q13.32-21.2		 pathogenic
NM_183357.3(ADCY5):c.2443-14T>A single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV001331927] Chr3:123304197 [GRCh38]
Chr3:123023044 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2088+1G>T single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV000190498] Chr3:123325321 [GRCh38]
Chr3:123044168 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_183357.3(ADCY5):c.1425C>G (p.Ile475Met) single nucleotide variant Inborn genetic diseases [RCV000190681] Chr3:123332657 [GRCh38]
Chr3:123051504 [GRCh37]
Chr3:3q21.1		 pathogenic
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29		 pathogenic
GRCh38/hg38 3q21.1(chr3:123399650-124045857)x3 copy number gain See cases [RCV000139358] Chr3:123399650..124045857 [GRCh38]
Chr3:123118497..123764704 [GRCh37]
Chr3:124601187..125247394 [NCBI36]
Chr3:3q21.1		 pathogenic
GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1 copy number loss See cases [RCV000139033] Chr3:112620977..128734134 [GRCh38]
Chr3:112339824..128452977 [GRCh37]
Chr3:113822514..129935667 [NCBI36]
Chr3:3q13.2-21.3		 pathogenic
GRCh38/hg38 3q13.33-21.3(chr3:121925147-126782249)x1 copy number loss See cases [RCV000140814] Chr3:121925147..126782249 [GRCh38]
Chr3:121643994..126501092 [GRCh37]
Chr3:123126684..127983782 [NCBI36]
Chr3:3q13.33-21.3		 pathogenic
GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1 copy number loss See cases [RCV000142009] Chr3:114122562..124532374 [GRCh38]
Chr3:113841409..124251221 [GRCh37]
Chr3:115324099..125733911 [NCBI36]
Chr3:3q13.31-21.2		 pathogenic
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 copy number gain See cases [RCV000142340] Chr3:93800620..145695381 [GRCh38]
Chr3:93519464..145413168 [GRCh37]
Chr3:95002154..146895858 [NCBI36]
Chr3:3q11.1-24		 pathogenic
NM_183357.3(ADCY5):c.3086T>A (p.Met1029Lys) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV000202493] Chr3:123291354 [GRCh38]
Chr3:123010201 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_183357.3(ADCY5):c.1252C>T (p.Arg418Trp) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV000202545]|Inborn genetic diseases [RCV000622463]|not provided [RCV000255111] Chr3:123352464 [GRCh38]
Chr3:123071311 [GRCh37]
Chr3:3q21.1		 pathogenic|conflicting interpretations of pathogenicity
NM_183357.3(ADCY5):c.1253G>A (p.Arg418Gln) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV000202572]|Neurodevelopmental delay [RCV002273986]|See cases [RCV003128395]|not provided [RCV000494073] Chr3:123352463 [GRCh38]
Chr3:123071310 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic
NM_183357.3(ADCY5):c.2088+1G>A single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV000202586]|not provided [RCV002298522] Chr3:123325321 [GRCh38]
Chr3:123044168 [GRCh37]
Chr3:3q21.1		 pathogenic
GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1 copy number loss See cases [RCV000143695] Chr3:118673898..126540730 [GRCh38]
Chr3:118392745..126259573 [GRCh37]
Chr3:119875435..127742263 [NCBI36]
Chr3:3q13.32-21.3		 pathogenic
NM_183357.3(ADCY5):c.2176G>A (p.Ala726Thr) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV000030679]|not provided [RCV000484892] Chr3:123319754 [GRCh38]
Chr3:123038601 [GRCh37]
Chr3:3q21.1		 pathogenic
GRCh37/hg19 3q21.1(chr3:122964492-123080578)x3 copy number gain Premature ovarian failure [RCV000225343] Chr3:122964492..123080578 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3037C>T (p.Arg1013Cys) single nucleotide variant Dyskinesia with orofacial involvement, autosomal recessive [RCV001789708]|Inborn genetic diseases [RCV000623061] Chr3:123296110 [GRCh38]
Chr3:123014957 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic|uncertain significance
NM_183357.3(ADCY5):c.1646+1G>A single nucleotide variant Inborn genetic diseases [RCV000623396] Chr3:123330888 [GRCh38]
Chr3:123049735 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_183357.3(ADCY5):c.1219G>A (p.Ala407Thr) single nucleotide variant not provided [RCV000522382] Chr3:123352497 [GRCh38]
Chr3:123071344 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1646+111A>G single nucleotide variant not provided [RCV001571251] Chr3:123330778 [GRCh38]
Chr3:123049625 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1339G>C (p.Asp447His) single nucleotide variant not provided [RCV000290457] Chr3:123347849 [GRCh38]
Chr3:123066696 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1376A>G (p.Lys459Arg) single nucleotide variant not provided [RCV000489098] Chr3:123347812 [GRCh38]
Chr3:123066659 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.457C>T (p.Pro153Ser) single nucleotide variant Inborn genetic diseases [RCV003267297] Chr3:123448089 [GRCh38]
Chr3:123166936 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1377G>T (p.Lys459Asn) single nucleotide variant not provided [RCV000487777] Chr3:123347811 [GRCh38]
Chr3:123066658 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3684G>A (p.Leu1228=) single nucleotide variant not provided [RCV000488001] Chr3:123284710 [GRCh38]
Chr3:123003557 [GRCh37]
Chr3:3q21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_183357.3(ADCY5):c.2725-193C>A single nucleotide variant not provided [RCV001547587] Chr3:123300488 [GRCh38]
Chr3:123019335 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2073G>T (p.Lys691Asn) single nucleotide variant not provided [RCV000489981] Chr3:123325337 [GRCh38]
Chr3:123044184 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_183357.3(ADCY5):c.3584A>C (p.Gln1195Pro) single nucleotide variant not provided [RCV000522759] Chr3:123286758 [GRCh38]
Chr3:123005605 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3623G>A (p.Arg1208His) single nucleotide variant not provided [RCV000488397] Chr3:123286719 [GRCh38]
Chr3:123005566 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.150C>G (p.Ala50=) single nucleotide variant not provided [RCV000585594] Chr3:123448396 [GRCh38]
Chr3:123167243 [GRCh37]
Chr3:3q21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_183357.3(ADCY5):c.1312dup (p.Arg438fs) duplication Inborn genetic diseases [RCV000624835] Chr3:123347875..123347876 [GRCh38]
Chr3:123066722..123066723 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic
NM_183357.3(ADCY5):c.3336C>T (p.Ser1112=) single nucleotide variant not provided [RCV000598371] Chr3:123289946 [GRCh38]
Chr3:123008793 [GRCh37]
Chr3:3q21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_183357.3(ADCY5):c.2632G>T (p.Ala878Ser) single nucleotide variant not provided [RCV000585321] Chr3:123303147 [GRCh38]
Chr3:123021994 [GRCh37]
Chr3:3q21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_183357.3(ADCY5):c.2084G>C (p.Arg695Pro) single nucleotide variant not provided [RCV000731975] Chr3:123325326 [GRCh38]
Chr3:123044173 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_183357.3(ADCY5):c.2916C>A (p.Asn972Lys) single nucleotide variant not provided [RCV000729590] Chr3:123297367 [GRCh38]
Chr3:123016214 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.649del (p.Arg217fs) deletion Language disorder [RCV000414975] Chr3:123447897 [GRCh38]
Chr3:123166744 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2767G>A (p.Val923Met) single nucleotide variant not specified [RCV000413683] Chr3:123300253 [GRCh38]
Chr3:123019100 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1902G>C (p.Glu634Asp) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV000987317]|Inborn genetic diseases [RCV004022337]|not provided [RCV000417426] Chr3:123327663 [GRCh38]
Chr3:123046510 [GRCh37]
Chr3:3q21.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_183357.3(ADCY5):c.2000T>A (p.Ile667Asn) single nucleotide variant not provided [RCV000434660] Chr3:123325410 [GRCh38]
Chr3:123044257 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2210T>A (p.Val737Asp) single nucleotide variant not provided [RCV000434838] Chr3:123319720 [GRCh38]
Chr3:123038567 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2083C>T (p.Arg695Trp) single nucleotide variant not provided [RCV000417456] Chr3:123325327 [GRCh38]
Chr3:123044174 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_183357.3(ADCY5):c.191A>C (p.Gln64Pro) single nucleotide variant not provided [RCV000435389] Chr3:123448355 [GRCh38]
Chr3:123167202 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3599G>T (p.Gly1200Val) single nucleotide variant not provided [RCV000439144] Chr3:123286743 [GRCh38]
Chr3:123005590 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3169C>T (p.Arg1057Trp) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV002289575]|not provided [RCV000425304] Chr3:123291271 [GRCh38]
Chr3:123010118 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.304G>A (p.Ala102Thr) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV000765702]|Inborn genetic diseases [RCV002522550]|not provided [RCV000428751] Chr3:123448242 [GRCh38]
Chr3:123167089 [GRCh37]
Chr3:3q21.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_183357.3(ADCY5):c.1384A>T (p.Ile462Phe) single nucleotide variant not provided [RCV000430753] Chr3:123347804 [GRCh38]
Chr3:123066651 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2026dup (p.Ala676fs) duplication not provided [RCV001856871]|not specified [RCV000480522] Chr3:123325383..123325384 [GRCh38]
Chr3:123044230..123044231 [GRCh37]
Chr3:3q21.1		 pathogenic|uncertain significance
NM_183357.3(ADCY5):c.3302A>G (p.Asn1101Ser) single nucleotide variant Inborn genetic diseases [RCV003295664] Chr3:123291138 [GRCh38]
Chr3:123009985 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.409_428del (p.Gly137fs) deletion Dyskinesia with orofacial involvement, autosomal recessive [RCV001789709]|Inborn genetic diseases [RCV000624020] Chr3:123448118..123448137 [GRCh38]
Chr3:123166965..123166984 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_183357.3(ADCY5):c.16A>G (p.Ser6Gly) single nucleotide variant Inborn genetic diseases [RCV003284973]|not provided [RCV003779917] Chr3:123448530 [GRCh38]
Chr3:123167377 [GRCh37]
Chr3:3q21.1		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_183357.3(ADCY5):c.1806-7C>G single nucleotide variant not provided [RCV000513171] Chr3:123327766 [GRCh38]
Chr3:123046613 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.894G>A (p.Met298Ile) single nucleotide variant not provided [RCV000658176] Chr3:123447652 [GRCh38]
Chr3:123166499 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2165G>A (p.Arg722His) single nucleotide variant not provided [RCV000658968] Chr3:123319765 [GRCh38]
Chr3:123038612 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1946G>A (p.Arg649Gln) single nucleotide variant not provided [RCV000658248] Chr3:123327619 [GRCh38]
Chr3:123046466 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.575_580dup (p.Asp192_Ser193dup) duplication not provided [RCV000662164] Chr3:123447965..123447966 [GRCh38]
Chr3:123166812..123166813 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.659A>C (p.Lys220Thr) single nucleotide variant not provided [RCV000658174] Chr3:123447887 [GRCh38]
Chr3:123166734 [GRCh37]
Chr3:3q21.1		 uncertain significance
GRCh37/hg19 3q21.1-21.2(chr3:122698091-125036994)x1 copy number loss not provided [RCV000682303] Chr3:122698091..125036994 [GRCh37]
Chr3:3q21.1-21.2		 uncertain significance
NM_183357.3(ADCY5):c.1368G>A (p.Met456Ile) single nucleotide variant Distal myopathy with posterior leg and anterior hand involvement [RCV000714607] Chr3:123347820 [GRCh38]
Chr3:123066667 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2087T>C (p.Met696Thr) single nucleotide variant not provided [RCV001567016] Chr3:123325323 [GRCh38]
Chr3:123044170 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_183357.3(ADCY5):c.100G>C (p.Glu34Gln) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV000714656] Chr3:123448446 [GRCh38]
Chr3:123167293 [GRCh37]
Chr3:3q21.1		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_183357.3(ADCY5):c.1406+70_1406+73dup duplication Dyskinesia with orofacial involvement, autosomal dominant [RCV001549247]|not provided [RCV001638160] Chr3:123347708..123347709 [GRCh38]
Chr3:123066555..123066556 [GRCh37]
Chr3:3q21.1		 benign
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_183357.3(ADCY5):c.3532+78A>C single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV001549076]|not provided [RCV001655880]|not specified [RCV004598025] Chr3:123289672 [GRCh38]
Chr3:123008519 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.2257-83T>G single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV001549245]|not provided [RCV001694097]|not specified [RCV004598030] Chr3:123318200 [GRCh38]
Chr3:123037047 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.3063+162G>A single nucleotide variant not provided [RCV001679073] Chr3:123295922 [GRCh38]
Chr3:123014769 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.3696G>A (p.Thr1232=) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV002253641]|Dyskinesia with orofacial involvement, autosomal recessive [RCV002253642]|Neurodevelopmental disorder with hyperkinetic movements and dyskinesia [RCV002253643]|not provided [RCV000872368] Chr3:123284698 [GRCh38]
Chr3:123003545 [GRCh37]
Chr3:3q21.1		 benign|likely benign
NM_183357.3(ADCY5):c.3012C>T (p.His1004=) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV002253644]|Dyskinesia with orofacial involvement, autosomal recessive [RCV002253645]|Neurodevelopmental disorder with hyperkinetic movements and dyskinesia [RCV002253646]|not provided [RCV000872748] Chr3:123296135 [GRCh38]
Chr3:123014982 [GRCh37]
Chr3:3q21.1		 benign|likely benign
NM_183357.3(ADCY5):c.3063+8G>T single nucleotide variant not provided [RCV000917807] Chr3:123296076 [GRCh38]
Chr3:123014923 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2257-93A>C single nucleotide variant not provided [RCV001666778] Chr3:123318210 [GRCh38]
Chr3:123037057 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.2436C>T (p.Cys812=) single nucleotide variant not provided [RCV000762376] Chr3:123314241 [GRCh38]
Chr3:123033088 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1855G>A (p.Glu619Lys) single nucleotide variant not provided [RCV000762377] Chr3:123327710 [GRCh38]
Chr3:123046557 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2931C>A (p.Cys977Ter) single nucleotide variant not provided [RCV000760562] Chr3:123296216 [GRCh38]
Chr3:123015063 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_183357.3(ADCY5):c.668C>A (p.Ser223Ter) single nucleotide variant not provided [RCV000760564] Chr3:123447878 [GRCh38]
Chr3:123166725 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_183357.3(ADCY5):c.2080_2088del (p.Lys694_Met696del) deletion Dyskinesia with orofacial involvement, autosomal dominant [RCV001548757] Chr3:123325322..123325330 [GRCh38]
Chr3:123044169..123044177 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_183357.3(ADCY5):c.1647-17T>C single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV000987318]|not provided [RCV001509894]|not specified [RCV001529759] Chr3:123328819 [GRCh38]
Chr3:123047666 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.2724+32C>G single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV001549244]|not provided [RCV001619977]|not specified [RCV004598029] Chr3:123303023 [GRCh38]
Chr3:123021870 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.1134+144G>T single nucleotide variant not provided [RCV001546199] Chr3:123447268 [GRCh38]
Chr3:123166115 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1135-134C>T single nucleotide variant not provided [RCV001577692] Chr3:123352715 [GRCh38]
Chr3:123071562 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1407-262dup duplication not provided [RCV001567730] Chr3:123332922..123332923 [GRCh38]
Chr3:123051769..123051770 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2559+173_2559+174insTCTTTTCTTCTCTTC microsatellite not provided [RCV001724541] Chr3:123303893..123303894 [GRCh38]
Chr3:123022740..123022741 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.3063+216T>C single nucleotide variant not provided [RCV001644308] Chr3:123295868 [GRCh38]
Chr3:123014715 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.556G>C (p.Asp186His) single nucleotide variant not provided [RCV000998131] Chr3:123447990 [GRCh38]
Chr3:123166837 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.471G>A (p.Glu157=) single nucleotide variant not provided [RCV000865091] Chr3:123448075 [GRCh38]
Chr3:123166922 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.3777G>A (p.Pro1259=) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV002253732]|Dyskinesia with orofacial involvement, autosomal recessive [RCV002253733]|Neurodevelopmental disorder with hyperkinetic movements and dyskinesia [RCV002253734]|not provided [RCV000965650] Chr3:123284617 [GRCh38]
Chr3:123003464 [GRCh37]
Chr3:3q21.1		 benign|likely benign
NM_183357.3(ADCY5):c.910G>A (p.Ala304Thr) single nucleotide variant ADCY5-related disorder [RCV004543475]|Inborn genetic diseases [RCV002542182]|not provided [RCV000924985] Chr3:123447636 [GRCh38]
Chr3:123166483 [GRCh37]
Chr3:3q21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_183357.3(ADCY5):c.1500C>T (p.Arg500=) single nucleotide variant ADCY5-related disorder [RCV004538222]|not provided [RCV000864716] Chr3:123332582 [GRCh38]
Chr3:123051429 [GRCh37]
Chr3:3q21.1		 benign|likely benign
NM_183357.3(ADCY5):c.3420C>T (p.Tyr1140=) single nucleotide variant not provided [RCV000870482] Chr3:123289862 [GRCh38]
Chr3:123008709 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.3015C>A (p.Ala1005=) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV002253635]|Dyskinesia with orofacial involvement, autosomal recessive [RCV002253636]|Neurodevelopmental disorder with hyperkinetic movements and dyskinesia [RCV002253637]|not provided [RCV000870647] Chr3:123296132 [GRCh38]
Chr3:123014979 [GRCh37]
Chr3:3q21.1		 benign|likely benign
NM_183357.3(ADCY5):c.1519-9G>T single nucleotide variant ADCY5-related disorder [RCV004538297]|not provided [RCV000870977] Chr3:123331025 [GRCh38]
Chr3:123049872 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.1794C>T (p.Gly598=) single nucleotide variant not provided [RCV000937491] Chr3:123328655 [GRCh38]
Chr3:123047502 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2460G>A (p.Leu820=) single nucleotide variant not provided [RCV000904770] Chr3:123304166 [GRCh38]
Chr3:123023013 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1299G>C (p.Leu433=) single nucleotide variant not provided [RCV000940522] Chr3:123347889 [GRCh38]
Chr3:123066736 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1285-6C>T single nucleotide variant ADCY5-related disorder [RCV004538218]|Dyskinesia with orofacial involvement, autosomal dominant [RCV002253625]|Dyskinesia with orofacial involvement, autosomal recessive [RCV002253626]|Inborn genetic diseases [RCV002538943]|Neurodevelopmental disorder with hyperkinetic movements and dyskinesia [RCV002253627]|not provided [RCV000864587] Chr3:123347909 [GRCh38]
Chr3:123066756 [GRCh37]
Chr3:3q21.1		 benign|likely benign
NM_183357.3(ADCY5):c.2619G>A (p.Ala873=) single nucleotide variant not provided [RCV000914988] Chr3:123303160 [GRCh38]
Chr3:123022007 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2443-7A>C single nucleotide variant not provided [RCV000871693] Chr3:123304190 [GRCh38]
Chr3:123023037 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.3776C>T (p.Pro1259Leu) single nucleotide variant ADCY5-related disorder [RCV004535989]|not provided [RCV000977283] Chr3:123284618 [GRCh38]
Chr3:123003465 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.828C>T (p.Ala276=) single nucleotide variant not provided [RCV000899838] Chr3:123447718 [GRCh38]
Chr3:123166565 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1560T>C (p.Tyr520=) single nucleotide variant not provided [RCV000919999] Chr3:123330975 [GRCh38]
Chr3:123049822 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1968C>T (p.Ile656=) single nucleotide variant not provided [RCV000899274] Chr3:123325442 [GRCh38]
Chr3:123044289 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2624A>G (p.Gln875Arg) single nucleotide variant not provided [RCV000874731] Chr3:123303155 [GRCh38]
Chr3:123022002 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.996C>T (p.Thr332=) single nucleotide variant not provided [RCV000875955] Chr3:123447550 [GRCh38]
Chr3:123166397 [GRCh37]
Chr3:3q21.1		 benign|likely benign
NM_183357.3(ADCY5):c.3402C>T (p.Gly1134=) single nucleotide variant ADCY5-related disorder [RCV004541866]|not provided [RCV000897946] Chr3:123289880 [GRCh38]
Chr3:123008727 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.816C>A (p.Ala272=) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV002253647]|Dyskinesia with orofacial involvement, autosomal recessive [RCV002253648]|Neurodevelopmental disorder with hyperkinetic movements and dyskinesia [RCV002253649]|not provided [RCV000872920] Chr3:123447730 [GRCh38]
Chr3:123166577 [GRCh37]
Chr3:3q21.1		 benign|likely benign
NM_183357.3(ADCY5):c.2354+9C>T single nucleotide variant not provided [RCV000875417] Chr3:123318011 [GRCh38]
Chr3:123036858 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.55G>A (p.Ala19Thr) single nucleotide variant ADCY5-related disorder [RCV004540235]|not provided [RCV000871723] Chr3:123448491 [GRCh38]
Chr3:123167338 [GRCh37]
Chr3:3q21.1		 likely benign|conflicting interpretations of pathogenicity
NM_183357.3(ADCY5):c.963G>A (p.Gln321=) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV002253638]|Dyskinesia with orofacial involvement, autosomal recessive [RCV002253639]|Neurodevelopmental disorder with hyperkinetic movements and dyskinesia [RCV002253640]|not provided [RCV000871794] Chr3:123447583 [GRCh38]
Chr3:123166430 [GRCh37]
Chr3:3q21.1		 benign|likely benign
NM_183357.3(ADCY5):c.2645C>T (p.Ala882Val) single nucleotide variant not provided [RCV000998130] Chr3:123303134 [GRCh38]
Chr3:123021981 [GRCh37]
Chr3:3q21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_183357.3(ADCY5):c.459_460del (p.Arg154fs) deletion Dyskinesia with orofacial involvement, autosomal dominant [RCV000987320] Chr3:123448086..123448087 [GRCh38]
Chr3:123166933..123166934 [GRCh37]
Chr3:3q21.1		 likely pathogenic
GRCh37/hg19 3q21.1(chr3:122827227-123114031)x3 copy number gain not provided [RCV000849730] Chr3:122827227..123114031 [GRCh37]
Chr3:3q21.1		 uncertain significance
GRCh37/hg19 3q21.1(chr3:122999933-123244258)x3 copy number gain not provided [RCV000847515] Chr3:122999933..123244258 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2481C>A (p.Ile827=) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV002253622]|Dyskinesia with orofacial involvement, autosomal dominant [RCV002495242]|Dyskinesia with orofacial involvement, autosomal recessive [RCV002253623]|Neurodevelopmental disorder with hyperkinetic movements and dyskinesia [RCV002253624]|not provided [RCV000864278] Chr3:123304145 [GRCh38]
Chr3:123022992 [GRCh37]
Chr3:3q21.1		 benign|likely benign
NM_183357.3(ADCY5):c.1347C>T (p.Asn449=) single nucleotide variant not provided [RCV000876006] Chr3:123347841 [GRCh38]
Chr3:123066688 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2347G>A (p.Val783Met) single nucleotide variant not provided [RCV000871324] Chr3:123318027 [GRCh38]
Chr3:123036874 [GRCh37]
Chr3:3q21.1		 likely benign|conflicting interpretations of pathogenicity
NM_183357.3(ADCY5):c.1750G>A (p.Val584Ile) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV001169881] Chr3:123328699 [GRCh38]
Chr3:123047546 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.130C>T (p.His44Tyr) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV002507514]|not provided [RCV000870961] Chr3:123448416 [GRCh38]
Chr3:123167263 [GRCh37]
Chr3:3q21.1		 benign|likely benign
GRCh37/hg19 3q21.1(chr3:122991262-123242599)x3 copy number gain not provided [RCV000847931] Chr3:122991262..123242599 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3074A>C (p.Glu1025Ala) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV000987316] Chr3:123291366 [GRCh38]
Chr3:123010213 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_183357.3(ADCY5):c.3063+54G>A single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV001549077]|Dyskinesia with orofacial involvement, autosomal recessive [RCV002253848]|Neurodevelopmental disorder with hyperkinetic movements and dyskinesia [RCV002253849]|not provided [RCV001720315]|not specified [RCV004598026] Chr3:123296030 [GRCh38]
Chr3:123014877 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.412_428del (p.Gly138fs) deletion Neurodevelopmental disorder with hyperkinetic movements and dyskinesia [RCV004596385]|not provided [RCV001009236] Chr3:123448118..123448134 [GRCh38]
Chr3:123166965..123166981 [GRCh37]
Chr3:3q21.1		 likely pathogenic
GRCh37/hg19 3q13.33-21.1(chr3:121384741-123672180)x3 copy number gain not provided [RCV000848663] Chr3:121384741..123672180 [GRCh37]
Chr3:3q13.33-21.1		 uncertain significance
GRCh37/hg19 3q21.1(chr3:123091866-123464992)x3 copy number gain not provided [RCV000845863] Chr3:123091866..123464992 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1579C>A (p.Pro527Thr) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV000987319] Chr3:123330956 [GRCh38]
Chr3:123049803 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_183357.3(ADCY5):c.2724+64T>C single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV001549080]|not provided [RCV001619975]|not specified [RCV004598028] Chr3:123302991 [GRCh38]
Chr3:123021838 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.3613G>A (p.Val1205Met) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV001198036] Chr3:123286729 [GRCh38]
Chr3:123005576 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1612G>A (p.Val538Met) single nucleotide variant Dystonia [RCV001198002] Chr3:123330923 [GRCh38]
Chr3:123049770 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.441C>G (p.Gly147=) single nucleotide variant not provided [RCV000998132] Chr3:123448105 [GRCh38]
Chr3:123166952 [GRCh37]
Chr3:3q21.1		 uncertain significance
GRCh37/hg19 3q21.1(chr3:122823501-123012544)x3 copy number gain not provided [RCV000846198] Chr3:122823501..123012544 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2071A>G (p.Lys691Glu) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV000995686] Chr3:123325339 [GRCh38]
Chr3:123044186 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_183357.3(ADCY5):c.1378A>T (p.Ile460Phe) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV000995687] Chr3:123347810 [GRCh38]
Chr3:123066657 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_183357.3(ADCY5):c.1322C>T (p.Ala441Val) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV000995688] Chr3:123347866 [GRCh38]
Chr3:123066713 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_183357.3(ADCY5):c.2033G>A (p.Arg678His) single nucleotide variant Neurodevelopmental disorder with hyperkinetic movements and dyskinesia [RCV004576983]|not provided [RCV001093172] Chr3:123325377 [GRCh38]
Chr3:123044224 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3341A>G (p.Asp1114Gly) single nucleotide variant not provided [RCV003231728] Chr3:123289941 [GRCh38]
Chr3:123008788 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1519-75T>G single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV001549246]|not provided [RCV001685508]|not specified [RCV004598031] Chr3:123331091 [GRCh38]
Chr3:123049938 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.1805+165C>T single nucleotide variant not provided [RCV001574742] Chr3:123328479 [GRCh38]
Chr3:123047326 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1518+66C>T single nucleotide variant not provided [RCV001553052] Chr3:123332498 [GRCh38]
Chr3:123051345 [GRCh37]
Chr3:3q21.1		 likely benign
Single allele deletion Deafness-lymphedema-leukemia syndrome [RCV001541926] Chr3:123000000..129700000 [GRCh37]
Chr3:3q21.1-22.1		 pathogenic
NM_183357.3(ADCY5):c.1948-246A>G single nucleotide variant not provided [RCV001690404] Chr3:123325708 [GRCh38]
Chr3:123044555 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.3064-140G>A single nucleotide variant not provided [RCV001617860] Chr3:123291516 [GRCh38]
Chr3:123010363 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.2354+254dup duplication not provided [RCV001608335] Chr3:123317750..123317751 [GRCh38]
Chr3:123036597..123036598 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.2111+100T>C single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV002253887]|Dyskinesia with orofacial involvement, autosomal recessive [RCV002253888]|Neurodevelopmental disorder with hyperkinetic movements and dyskinesia [RCV002253889]|not provided [RCV001608427] Chr3:123320649 [GRCh38]
Chr3:123039496 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.2559+230_2559+234del microsatellite not provided [RCV001692684] Chr3:123303833..123303837 [GRCh38]
Chr3:123022680..123022684 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.2931-127G>T single nucleotide variant not provided [RCV001569104] Chr3:123296343 [GRCh38]
Chr3:123015190 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.3064-76C>T single nucleotide variant not provided [RCV001561527] Chr3:123291452 [GRCh38]
Chr3:123010299 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1806-65A>G single nucleotide variant not provided [RCV001562062] Chr3:123327824 [GRCh38]
Chr3:123046671 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.3328-111C>T single nucleotide variant not provided [RCV001688973] Chr3:123290065 [GRCh38]
Chr3:123008912 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.2559+204_2559+233del deletion not provided [RCV001562924] Chr3:123303834..123303863 [GRCh38]
Chr3:123022681..123022710 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2559+101G>A single nucleotide variant not provided [RCV001592413] Chr3:123303966 [GRCh38]
Chr3:123022813 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2931-32C>T single nucleotide variant not provided [RCV001545136] Chr3:123296248 [GRCh38]
Chr3:123015095 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1135-168G>A single nucleotide variant not provided [RCV001544840] Chr3:123352749 [GRCh38]
Chr3:123071596 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2559+159C>A single nucleotide variant not provided [RCV001545272] Chr3:123303908 [GRCh38]
Chr3:123022755 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1174G>A (p.Val392Met) single nucleotide variant not provided [RCV001575513] Chr3:123352542 [GRCh38]
Chr3:123071389 [GRCh37]
Chr3:3q21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_183357.3(ADCY5):c.3328-164C>T single nucleotide variant not provided [RCV001566052] Chr3:123290118 [GRCh38]
Chr3:123008965 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.3063+258G>A single nucleotide variant not provided [RCV001715279] Chr3:123295826 [GRCh38]
Chr3:123014673 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.1948-28dup duplication not provided [RCV001621744] Chr3:123325489..123325490 [GRCh38]
Chr3:123044336..123044337 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.2949G>A (p.Lys983=) single nucleotide variant not provided [RCV001552601] Chr3:123296198 [GRCh38]
Chr3:123015045 [GRCh37]
Chr3:3q21.1		 benign|likely benign
NM_183357.3(ADCY5):c.2443-78C>T single nucleotide variant not provided [RCV001559354] Chr3:123304261 [GRCh38]
Chr3:123023108 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2900+237G>C single nucleotide variant not provided [RCV001715374] Chr3:123299883 [GRCh38]
Chr3:123018730 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.2089-190C>T single nucleotide variant not provided [RCV001677125] Chr3:123320961 [GRCh38]
Chr3:123039808 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.428_443del (p.Ala143fs) deletion not provided [RCV001532487] Chr3:123448103..123448118 [GRCh38]
Chr3:123166950..123166965 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_183357.3(ADCY5):c.2725-50C>T single nucleotide variant not provided [RCV001574260] Chr3:123300345 [GRCh38]
Chr3:123019192 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2089-281A>G single nucleotide variant not provided [RCV001590703] Chr3:123321052 [GRCh38]
Chr3:123039899 [GRCh37]
Chr3:3q21.1		 likely benign
Single allele deletion Deafness-lymphedema-leukemia syndrome [RCV001541924] Chr3:120247726..128319968 [GRCh37]
Chr3:3q13.33-21.3		 pathogenic
NM_183357.3(ADCY5):c.2725-4G>A single nucleotide variant not provided [RCV000927264] Chr3:123300299 [GRCh38]
Chr3:123019146 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1285-8C>A single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV002253715]|Dyskinesia with orofacial involvement, autosomal recessive [RCV002253716]|Neurodevelopmental disorder with hyperkinetic movements and dyskinesia [RCV002253717]|not provided [RCV000955139] Chr3:123347911 [GRCh38]
Chr3:123066758 [GRCh37]
Chr3:3q21.1		 benign|likely benign
NM_183357.3(ADCY5):c.2175C>T (p.Asp725=) single nucleotide variant not provided [RCV000872115] Chr3:123319755 [GRCh38]
Chr3:123038602 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.1485C>T (p.Asn495=) single nucleotide variant not provided [RCV000977726] Chr3:123332597 [GRCh38]
Chr3:123051444 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.3375C>T (p.Ile1125=) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV002253650]|Dyskinesia with orofacial involvement, autosomal dominant [RCV002501326]|Dyskinesia with orofacial involvement, autosomal recessive [RCV002253651]|Neurodevelopmental disorder with hyperkinetic movements and dyskinesia [RCV002253652]|not provided [RCV000873488] Chr3:123289907 [GRCh38]
Chr3:123008754 [GRCh37]
Chr3:3q21.1		 benign|likely benign
NM_183357.3(ADCY5):c.1635C>T (p.Ile545=) single nucleotide variant not provided [RCV000897135] Chr3:123330900 [GRCh38]
Chr3:123049747 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1134+10G>A single nucleotide variant not provided [RCV000929923] Chr3:123447402 [GRCh38]
Chr3:123166249 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.818T>C (p.Val273Ala) single nucleotide variant not provided [RCV000877060] Chr3:123447728 [GRCh38]
Chr3:123166575 [GRCh37]
Chr3:3q21.1		 likely benign|conflicting interpretations of pathogenicity
NM_183357.3(ADCY5):c.2631C>T (p.Asn877=) single nucleotide variant ADCY5-related disorder [RCV004541896]|not provided [RCV000902362] Chr3:123303148 [GRCh38]
Chr3:123021995 [GRCh37]
Chr3:3q21.1		 benign|likely benign
NM_183357.3(ADCY5):c.2866G>A (p.Asp956Asn) single nucleotide variant ADCY5-related disorder [RCV004530856]|Dyskinesia with orofacial involvement, autosomal dominant [RCV003456166]|not provided [RCV000876752] Chr3:123300154 [GRCh38]
Chr3:123019001 [GRCh37]
Chr3:3q21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_183357.3(ADCY5):c.3234C>A (p.Ala1078=) single nucleotide variant not provided [RCV000933698] Chr3:123291206 [GRCh38]
Chr3:123010053 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2865C>T (p.Phe955=) single nucleotide variant not provided [RCV000933778] Chr3:123300155 [GRCh38]
Chr3:123019002 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.517C>T (p.Leu173=) single nucleotide variant not provided [RCV000957629] Chr3:123448029 [GRCh38]
Chr3:123166876 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.3253G>A (p.Val1085Ile) single nucleotide variant not provided [RCV001579375] Chr3:123291187 [GRCh38]
Chr3:123010034 [GRCh37]
Chr3:3q21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_183357.3(ADCY5):c.2559+173_2559+174insTCTTTTCTTC insertion not provided [RCV001676945] Chr3:123303893..123303894 [GRCh38]
Chr3:123022740..123022741 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.2560-86G>A single nucleotide variant not provided [RCV001562701] Chr3:123303305 [GRCh38]
Chr3:123022152 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1518+271T>A single nucleotide variant not provided [RCV001575633] Chr3:123332293 [GRCh38]
Chr3:123051140 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2559+174C>T single nucleotide variant not provided [RCV001719230] Chr3:123303893 [GRCh38]
Chr3:123022740 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.3532+193C>A single nucleotide variant not provided [RCV001559778] Chr3:123289557 [GRCh38]
Chr3:123008404 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2559+169_2559+173dup duplication not provided [RCV001658512] Chr3:123303893..123303894 [GRCh38]
Chr3:123022740..123022741 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.2354+226C>T single nucleotide variant not provided [RCV001549551] Chr3:123317794 [GRCh38]
Chr3:123036641 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1948-50C>G single nucleotide variant not provided [RCV002251629] Chr3:123325512 [GRCh38]
Chr3:123044359 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2122G>C (p.Glu708Gln) single nucleotide variant not provided [RCV002251814] Chr3:123319808 [GRCh38]
Chr3:123038655 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2111+118T>G single nucleotide variant not provided [RCV001636220] Chr3:123320631 [GRCh38]
Chr3:123039478 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.2443-343G>A single nucleotide variant not provided [RCV001561059] Chr3:123304526 [GRCh38]
Chr3:123023373 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.*157G>T single nucleotide variant not provided [RCV001561368] Chr3:123284451 [GRCh38]
Chr3:123284451..123284452 [GRCh38]
Chr3:123003298 [GRCh37]
Chr3:123003298..123003299 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2721C>G (p.Pro907=) single nucleotide variant not provided [RCV003106705] Chr3:123303058 [GRCh38]
Chr3:123021905 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1235G>T (p.Arg412Leu) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV002466312] Chr3:123352481 [GRCh38]
Chr3:123071328 [GRCh37]
Chr3:3q21.1		 likely pathogenic
GRCh37/hg19 3q21.1(chr3:122981355-123768908)x1 copy number loss not provided [RCV001005466] Chr3:122981355..123768908 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2930+280A>G single nucleotide variant not provided [RCV001675020] Chr3:123297073 [GRCh38]
Chr3:123015920 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.2257-79T>C single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV002253908]|Dyskinesia with orofacial involvement, autosomal recessive [RCV002253909]|Neurodevelopmental disorder with hyperkinetic movements and dyskinesia [RCV002253910]|not provided [RCV001619356] Chr3:123318196 [GRCh38]
Chr3:123037043 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.3063+31G>A single nucleotide variant not provided [RCV001593725] Chr3:123296053 [GRCh38]
Chr3:123014900 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.3063+27G>A single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV002253912]|Dyskinesia with orofacial involvement, autosomal recessive [RCV002253913]|Neurodevelopmental disorder with hyperkinetic movements and dyskinesia [RCV002253914]|not provided [RCV001619666] Chr3:123296057 [GRCh38]
Chr3:123014904 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.1135-265C>G single nucleotide variant not provided [RCV001536957] Chr3:123352846 [GRCh38]
Chr3:123071693 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.1406+144C>A single nucleotide variant not provided [RCV001595936] Chr3:123347638 [GRCh38]
Chr3:123066485 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.1805+193G>A single nucleotide variant not provided [RCV001637393] Chr3:123328451 [GRCh38]
Chr3:123047298 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.-187G>C single nucleotide variant not provided [RCV001597639] Chr3:123448732 [GRCh38]
Chr3:123167579 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.2931-258T>C single nucleotide variant not provided [RCV001719270] Chr3:123296474 [GRCh38]
Chr3:123015321 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.1406+31A>G single nucleotide variant not provided [RCV001652995] Chr3:123347751 [GRCh38]
Chr3:123066598 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2442+267C>A single nucleotide variant not provided [RCV001616812] Chr3:123313968 [GRCh38]
Chr3:123032815 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.1646+58G>A single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV002253925]|Dyskinesia with orofacial involvement, autosomal recessive [RCV002253926]|Neurodevelopmental disorder with hyperkinetic movements and dyskinesia [RCV002253927]|not provided [RCV001656449]|not specified [RCV004598075] Chr3:123330831 [GRCh38]
Chr3:123049678 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.1134+30791C>A single nucleotide variant not provided [RCV001676698] Chr3:123416621 [GRCh38]
Chr3:123135468 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.2354+269del deletion not provided [RCV001564486] Chr3:123317751 [GRCh38]
Chr3:123036598 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1806-329C>T single nucleotide variant not provided [RCV001588157] Chr3:123328088 [GRCh38]
Chr3:123046935 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.3328-244C>T single nucleotide variant not provided [RCV001715137] Chr3:123290198 [GRCh38]
Chr3:123009045 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.2559+229T>C single nucleotide variant not provided [RCV001653280] Chr3:123303838 [GRCh38]
Chr3:123022685 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.3327+101G>A single nucleotide variant not provided [RCV001677204] Chr3:123291012 [GRCh38]
Chr3:123009859 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.225CGA[4] (p.Asp80del) microsatellite Dyskinesia with orofacial involvement, autosomal dominant [RCV001175306]|not provided [RCV003688921] Chr3:123448307..123448309 [GRCh38]
Chr3:123167154..123167156 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2560-247del deletion not provided [RCV001615786] Chr3:123303466 [GRCh38]
Chr3:123022313 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.3064-317C>T single nucleotide variant not provided [RCV001724449] Chr3:123291693 [GRCh38]
Chr3:123010540 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.2931-243C>T single nucleotide variant not provided [RCV001611016] Chr3:123296459 [GRCh38]
Chr3:123015306 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.2559+151G>T single nucleotide variant not provided [RCV001671297] Chr3:123303916 [GRCh38]
Chr3:123022763 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.1134+31015C>T single nucleotide variant not provided [RCV001669225] Chr3:123416397 [GRCh38]
Chr3:123135244 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.2725-172G>T single nucleotide variant not provided [RCV001614200] Chr3:123300467 [GRCh38]
Chr3:123019314 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.299A>C (p.Lys100Thr) single nucleotide variant not provided [RCV001587694] Chr3:123448247 [GRCh38]
Chr3:123167094 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2559+173_2559+174insTCTTTTCTTCTCTTCTCTTC microsatellite not provided [RCV001694501] Chr3:123303893..123303894 [GRCh38]
Chr3:123022740..123022741 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.2559+189del deletion not provided [RCV001650212] Chr3:123303878 [GRCh38]
Chr3:123022725 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.2354+23G>T single nucleotide variant not provided [RCV001583262] Chr3:123317997 [GRCh38]
Chr3:123036844 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1646+29C>A single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV002253968]|Dyskinesia with orofacial involvement, autosomal recessive [RCV002253969]|Neurodevelopmental disorder with hyperkinetic movements and dyskinesia [RCV002253970]|not provided [RCV001710977]|not specified [RCV004598121] Chr3:123330860 [GRCh38]
Chr3:123049707 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.2256+307dup duplication not provided [RCV001616740] Chr3:123319353..123319354 [GRCh38]
Chr3:123038200..123038201 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.1839C>T (p.Tyr613=) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV002253956]|Dyskinesia with orofacial involvement, autosomal recessive [RCV002253957]|Neurodevelopmental disorder with hyperkinetic movements and dyskinesia [RCV002253958]|not provided [RCV001685299] Chr3:123327726 [GRCh38]
Chr3:123046573 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.351G>A (p.Arg117=) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV002253876]|Dyskinesia with orofacial involvement, autosomal recessive [RCV002253877]|Neurodevelopmental disorder with hyperkinetic movements and dyskinesia [RCV002253878]|not provided [RCV001583365] Chr3:123448195 [GRCh38]
Chr3:123167042 [GRCh37]
Chr3:3q21.1		 benign|likely benign
NM_183357.3(ADCY5):c.1134+31449T>C single nucleotide variant not provided [RCV001678995] Chr3:123415963 [GRCh38]
Chr3:123134810 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.1406+231C>T single nucleotide variant not provided [RCV001584765] Chr3:123347551 [GRCh38]
Chr3:123066398 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2559+184del deletion not provided [RCV001667021] Chr3:123303883 [GRCh38]
Chr3:123022730 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.2724+192A>G single nucleotide variant not provided [RCV001682200] Chr3:123302863 [GRCh38]
Chr3:123021710 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.1134+30810A>G single nucleotide variant not provided [RCV001641633] Chr3:123416602 [GRCh38]
Chr3:123135449 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.1407-262A>C single nucleotide variant not provided [RCV001648425] Chr3:123332937 [GRCh38]
Chr3:123051784 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.2559+144G>A single nucleotide variant not provided [RCV001612571] Chr3:123303923 [GRCh38]
Chr3:123022770 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.3327+136G>A single nucleotide variant not provided [RCV001669644] Chr3:123290977 [GRCh38]
Chr3:123009824 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.1285-115G>A single nucleotide variant not provided [RCV001679539] Chr3:123348018 [GRCh38]
Chr3:123066865 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.1407-248del deletion not provided [RCV001587064] Chr3:123332923 [GRCh38]
Chr3:123051770 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1285-103G>A single nucleotide variant not provided [RCV001693008] Chr3:123348006 [GRCh38]
Chr3:123066853 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.3669C>T (p.Asp1223=) single nucleotide variant not provided [RCV001311604] Chr3:123284725 [GRCh38]
Chr3:123003572 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.400G>A (p.Gly134Ser) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV001333702]|Dyskinesia with orofacial involvement, autosomal dominant [RCV002486333]|Inborn genetic diseases [RCV002546647]|not provided [RCV001556364] Chr3:123448146 [GRCh38]
Chr3:123166993 [GRCh37]
Chr3:3q21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_183357.3(ADCY5):c.409_428dup (p.Ser145fs) duplication Inborn genetic diseases [RCV001266440] Chr3:123448117..123448118 [GRCh38]
Chr3:123166964..123166965 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_183357.3(ADCY5):c.395C>G (p.Pro132Arg) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV001333701] Chr3:123448151 [GRCh38]
Chr3:123166998 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1519-5T>C single nucleotide variant not provided [RCV001311607] Chr3:123331021 [GRCh38]
Chr3:123049868 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.366G>C (p.Ala122=) single nucleotide variant not provided [RCV004598786] Chr3:123448180 [GRCh38]
Chr3:123167027 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.3658-3C>T single nucleotide variant not provided [RCV001311605] Chr3:123284739 [GRCh38]
Chr3:123003586 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1795G>A (p.Gly599Ser) single nucleotide variant not provided [RCV001311606] Chr3:123328654 [GRCh38]
Chr3:123047501 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.208G>C (p.Ala70Pro) single nucleotide variant not provided [RCV001787494] Chr3:123448338 [GRCh38]
Chr3:123167185 [GRCh37]
Chr3:3q21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_183357.3(ADCY5):c.2930+164C>T single nucleotide variant not provided [RCV001642172] Chr3:123297189 [GRCh38]
Chr3:123016036 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.230A>T (p.Asp77Val) single nucleotide variant not provided [RCV001320429] Chr3:123448316 [GRCh38]
Chr3:123167163 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3148G>A (p.Ala1050Thr) single nucleotide variant ADCY5-related disorder [RCV004545190]|not provided [RCV001298720] Chr3:123291292 [GRCh38]
Chr3:123010139 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.503G>A (p.Arg168His) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV001331989] Chr3:123448043 [GRCh38]
Chr3:123166890 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.144C>T (p.Gly48=) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV001549248]|not provided [RCV001509895]|not specified [RCV001528242] Chr3:123448402 [GRCh38]
Chr3:123167249 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.2900+4T>C single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV001549079]|Dyskinesia with orofacial involvement, autosomal recessive [RCV002253833]|Neurodevelopmental disorder with hyperkinetic movements and dyskinesia [RCV002253834]|not provided [RCV001520461]|not specified [RCV001529813] Chr3:123300116 [GRCh38]
Chr3:123018963 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.1518+181C>T single nucleotide variant not provided [RCV001539097] Chr3:123332383 [GRCh38]
Chr3:123051230 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.3327+10G>A single nucleotide variant not provided [RCV001403722] Chr3:123291103 [GRCh38]
Chr3:123009950 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2818G>A (p.Glu940Lys) single nucleotide variant ADCY5-related disorder [RCV004540309]|not provided [RCV001429548] Chr3:123300202 [GRCh38]
Chr3:123019049 [GRCh37]
Chr3:3q21.1		 likely benign|conflicting interpretations of pathogenicity
NM_183357.3(ADCY5):c.3658-104C>T single nucleotide variant not provided [RCV001538488] Chr3:123284840 [GRCh38]
Chr3:123003687 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2900+254C>G single nucleotide variant not provided [RCV001692872] Chr3:123299866 [GRCh38]
Chr3:123018713 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.3064-53C>T single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV002253948]|Dyskinesia with orofacial involvement, autosomal recessive [RCV002253949]|Neurodevelopmental disorder with hyperkinetic movements and dyskinesia [RCV002253950]|not provided [RCV001675379]|not specified [RCV004598092] Chr3:123291429 [GRCh38]
Chr3:123010276 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.1134+31305A>C single nucleotide variant not provided [RCV001688344] Chr3:123416107 [GRCh38]
Chr3:123134954 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.3533-268T>C single nucleotide variant not provided [RCV001686176] Chr3:123287077 [GRCh38]
Chr3:123005924 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.2111+315T>C single nucleotide variant not provided [RCV001592725] Chr3:123320434 [GRCh38]
Chr3:123039281 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2725-277T>C single nucleotide variant not provided [RCV001684655] Chr3:123300572 [GRCh38]
Chr3:123019419 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.2725-185A>G single nucleotide variant not provided [RCV001654534] Chr3:123300480 [GRCh38]
Chr3:123019327 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.2256+320del deletion not provided [RCV001653391] Chr3:123319354 [GRCh38]
Chr3:123038201 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.29C>T (p.Pro10Leu) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV002253837]|Dyskinesia with orofacial involvement, autosomal recessive [RCV002253838]|Neurodevelopmental disorder with hyperkinetic movements and dyskinesia [RCV002253839]|not provided [RCV001521983] Chr3:123448517 [GRCh38]
Chr3:123167364 [GRCh37]
Chr3:3q21.1		 benign|likely benign
NM_183357.3(ADCY5):c.2111+12G>A single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV002253827]|Dyskinesia with orofacial involvement, autosomal recessive [RCV002253828]|Neurodevelopmental disorder with hyperkinetic movements and dyskinesia [RCV002253829]|not provided [RCV001517587] Chr3:123320737 [GRCh38]
Chr3:123039584 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.753C>T (p.Leu251=) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV002253830]|Dyskinesia with orofacial involvement, autosomal recessive [RCV002253831]|Neurodevelopmental disorder with hyperkinetic movements and dyskinesia [RCV002253832]|not provided [RCV001517588] Chr3:123447793 [GRCh38]
Chr3:123166640 [GRCh37]
Chr3:3q21.1		 benign|likely benign
NM_183357.3(ADCY5):c.-5G>C single nucleotide variant not provided [RCV001591600] Chr3:123448550 [GRCh38]
Chr3:123167397 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1805+13T>C single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV002253820]|Dyskinesia with orofacial involvement, autosomal recessive [RCV002253821]|Neurodevelopmental disorder with hyperkinetic movements and dyskinesia [RCV002253822]|not provided [RCV001509893]|not specified [RCV001528822] Chr3:123328631 [GRCh38]
Chr3:123047478 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.242C>T (p.Pro81Leu) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV002295342]|Dyskinesia with orofacial involvement, autosomal dominant [RCV002506600]|not provided [RCV001513381] Chr3:123448304 [GRCh38]
Chr3:123167151 [GRCh37]
Chr3:3q21.1		 benign|likely benign|uncertain significance
NM_183357.3(ADCY5):c.2724+604A>G single nucleotide variant not provided [RCV001517819] Chr3:123302451 [GRCh38]
Chr3:123021298 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.2112-6C>T single nucleotide variant not provided [RCV001418160] Chr3:123319824 [GRCh38]
Chr3:123038671 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2560-302A>G single nucleotide variant not provided [RCV001538117] Chr3:123303521 [GRCh38]
Chr3:123022368 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.3064-18G>A single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV002253823]|Dyskinesia with orofacial involvement, autosomal dominant [RCV002501767]|Dyskinesia with orofacial involvement, autosomal recessive [RCV002253824]|Neurodevelopmental disorder with hyperkinetic movements and dyskinesia [RCV002253825]|not provided [RCV001512465] Chr3:123291394 [GRCh38]
Chr3:123010241 [GRCh37]
Chr3:3q21.1		 benign|likely benign
NM_183357.3(ADCY5):c.3147C>T (p.Ala1049=) single nucleotide variant not provided [RCV003107230] Chr3:123291293 [GRCh38]
Chr3:123010140 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.3213G>A (p.Ala1071=) single nucleotide variant not provided [RCV003109069] Chr3:123291227 [GRCh38]
Chr3:123010074 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2278C>T (p.Arg760Ter) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV002249230]|not provided [RCV003094018] Chr3:123318096 [GRCh38]
Chr3:123036943 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_183357.3(ADCY5):c.2346C>T (p.Ile782=) single nucleotide variant not provided [RCV001727265] Chr3:123318028 [GRCh38]
Chr3:123036875 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.3224C>T (p.Ala1075Val) single nucleotide variant not specified [RCV002246942] Chr3:123291216 [GRCh38]
Chr3:123010063 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.593_604dup (p.Ala201_Val202insGlyProGlyAla) duplication Dyskinesia with orofacial involvement, autosomal dominant [RCV002272777] Chr3:123447941..123447942 [GRCh38]
Chr3:123166788..123166789 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.175G>A (p.Gly59Arg) single nucleotide variant not specified [RCV002246943] Chr3:123448371 [GRCh38]
Chr3:123167218 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2707A>G (p.Asn903Asp) single nucleotide variant not provided [RCV001762974] Chr3:123303072 [GRCh38]
Chr3:123021919 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1723C>A (p.Leu575Ile) single nucleotide variant not provided [RCV001751917] Chr3:123328726 [GRCh38]
Chr3:123047573 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3385T>C (p.Tyr1129His) single nucleotide variant not provided [RCV001771244] Chr3:123289897 [GRCh38]
Chr3:123008744 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3045C>A (p.Asp1015Glu) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV001789712] Chr3:123296102 [GRCh38]
Chr3:123014949 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_183357.3(ADCY5):c.3712C>T (p.Arg1238Trp) single nucleotide variant Neurodevelopmental disorder with hyperkinetic movements and dyskinesia [RCV001789715] Chr3:123284682 [GRCh38]
Chr3:123003529 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_183357.3(ADCY5):c.1246C>G (p.Gln416Glu) single nucleotide variant not provided [RCV001767522] Chr3:123352470 [GRCh38]
Chr3:123071317 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1762G>A (p.Asp588Asn) single nucleotide variant Dyskinesia with orofacial involvement, autosomal recessive [RCV001789714]|not provided [RCV004699475] Chr3:123328687 [GRCh38]
Chr3:123047534 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic
NM_183357.3(ADCY5):c.1142C>G (p.Ser381Cys) single nucleotide variant not provided [RCV001732967] Chr3:123352574 [GRCh38]
Chr3:123071421 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1947+1G>T single nucleotide variant Neurodevelopmental disorder with hyperkinetic movements and dyskinesia [RCV001789716] Chr3:123327617 [GRCh38]
Chr3:123046464 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_183357.3(ADCY5):c.316C>T (p.Arg106Cys) single nucleotide variant not provided [RCV001774476] Chr3:123448230 [GRCh38]
Chr3:123167077 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2560-108G>C single nucleotide variant not provided [RCV001799918] Chr3:123303327 [GRCh38]
Chr3:123022174 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2848C>T (p.Pro950Ser) single nucleotide variant not provided [RCV001774077] Chr3:123300172 [GRCh38]
Chr3:123019019 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3099G>T (p.Gln1033His) single nucleotide variant not provided [RCV001765382] Chr3:123291341 [GRCh38]
Chr3:123010188 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3073G>A (p.Glu1025Lys) single nucleotide variant not provided [RCV001816364] Chr3:123291367 [GRCh38]
Chr3:123010214 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2634G>A (p.Ala878=) single nucleotide variant not provided [RCV001816365] Chr3:123303145 [GRCh38]
Chr3:123021992 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.203G>C (p.Arg68Pro) single nucleotide variant not provided [RCV001794739] Chr3:123448343 [GRCh38]
Chr3:123167190 [GRCh37]
Chr3:3q21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_183357.3(ADCY5):c.3331A>G (p.Ile1111Val) single nucleotide variant not provided [RCV001787560] Chr3:123289951 [GRCh38]
Chr3:123008798 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3532+20G>T single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV002253984]|Dyskinesia with orofacial involvement, autosomal recessive [RCV002253985]|Neurodevelopmental disorder with hyperkinetic movements and dyskinesia [RCV002253986]|not provided [RCV001752002] Chr3:123289730 [GRCh38]
Chr3:123008577 [GRCh37]
Chr3:3q21.1		 benign|likely benign
NM_183357.3(ADCY5):c.3013G>A (p.Ala1005Thr) single nucleotide variant not provided [RCV001794598] Chr3:123296134 [GRCh38]
Chr3:123014981 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.697T>C (p.Tyr233His) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV001789713] Chr3:123447849 [GRCh38]
Chr3:123166696 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_183357.3(ADCY5):c.3649C>T (p.Arg1217Cys) single nucleotide variant not provided [RCV001797482] Chr3:123286693 [GRCh38]
Chr3:123005540 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2559+174CTCTT[12] microsatellite not provided [RCV001797526] Chr3:123303838..123303839 [GRCh38]
Chr3:123022685..123022686 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1808G>A (p.Arg603His) single nucleotide variant not provided [RCV001757168] Chr3:123327757 [GRCh38]
Chr3:123046604 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3559G>A (p.Gly1187Arg) single nucleotide variant not provided [RCV001758255] Chr3:123286783 [GRCh38]
Chr3:123005630 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.649C>T (p.Arg217Cys) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV001809303] Chr3:123447897 [GRCh38]
Chr3:123166744 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3736A>G (p.Lys1246Glu) single nucleotide variant not provided [RCV002024781] Chr3:123284658 [GRCh38]
Chr3:123003505 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.455G>A (p.Arg152His) single nucleotide variant Inborn genetic diseases [RCV003167168]|not provided [RCV001928417] Chr3:123448091 [GRCh38]
Chr3:123166938 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.259G>T (p.Asp87Tyr) single nucleotide variant Inborn genetic diseases [RCV004043082]|not provided [RCV001950272] Chr3:123448287 [GRCh38]
Chr3:123167134 [GRCh37]
Chr3:3q21.1		 benign|uncertain significance
NM_183357.3(ADCY5):c.2107G>A (p.Asp703Asn) single nucleotide variant not provided [RCV001895436] Chr3:123320753 [GRCh38]
Chr3:123039600 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1603C>A (p.His535Asn) single nucleotide variant not provided [RCV002045235] Chr3:123330932 [GRCh38]
Chr3:123049779 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1289G>A (p.Arg430Gln) single nucleotide variant not provided [RCV001971180] Chr3:123347899 [GRCh38]
Chr3:123066746 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3749T>C (p.Met1250Thr) single nucleotide variant not provided [RCV001915166] Chr3:123284645 [GRCh38]
Chr3:123003492 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.404G>C (p.Gly135Ala) single nucleotide variant not provided [RCV002023293] Chr3:123448142 [GRCh38]
Chr3:123166989 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.17G>T (p.Ser6Ile) single nucleotide variant not provided [RCV001891496] Chr3:123448529 [GRCh38]
Chr3:123167376 [GRCh37]
Chr3:3q21.1		 benign|uncertain significance
NM_183357.3(ADCY5):c.2413T>G (p.Phe805Val) single nucleotide variant not provided [RCV002043298] Chr3:123314264 [GRCh38]
Chr3:123033111 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2559+1G>A single nucleotide variant not provided [RCV002003106] Chr3:123304066 [GRCh38]
Chr3:123022913 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_183357.3(ADCY5):c.146C>T (p.Ser49Phe) single nucleotide variant Inborn genetic diseases [RCV004042838]|not provided [RCV001913610] Chr3:123448400 [GRCh38]
Chr3:123167247 [GRCh37]
Chr3:3q21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_183357.3(ADCY5):c.497A>G (p.Lys166Arg) single nucleotide variant not provided [RCV001970423] Chr3:123448049 [GRCh38]
Chr3:123166896 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.467T>A (p.Val156Glu) single nucleotide variant Inborn genetic diseases [RCV003303282]|not provided [RCV001895250] Chr3:123448079 [GRCh38]
Chr3:123166926 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3352C>A (p.Gln1118Lys) single nucleotide variant not provided [RCV001986631] Chr3:123289930 [GRCh38]
Chr3:123008777 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.334G>A (p.Gly112Ser) single nucleotide variant not provided [RCV002008170] Chr3:123448212 [GRCh38]
Chr3:123167059 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.528C>T (p.Gly176=) single nucleotide variant not provided [RCV002044580] Chr3:123448018 [GRCh38]
Chr3:123166865 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_183357.3(ADCY5):c.84C>A (p.His28Gln) single nucleotide variant not provided [RCV002043172] Chr3:123448462 [GRCh38]
Chr3:123167309 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2559+5dup duplication not provided [RCV001927983] Chr3:123304061..123304062 [GRCh38]
Chr3:123022908..123022909 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2275G>A (p.Asp759Asn) single nucleotide variant not provided [RCV001892117] Chr3:123318099 [GRCh38]
Chr3:123036946 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.816C>G (p.Ala272=) single nucleotide variant not provided [RCV001946861] Chr3:123447730 [GRCh38]
Chr3:123166577 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2032C>T (p.Arg678Cys) single nucleotide variant not provided [RCV001927661] Chr3:123325378 [GRCh38]
Chr3:123044225 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.632C>T (p.Ala211Val) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV001823450] Chr3:123447914 [GRCh38]
Chr3:123166761 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2839G>A (p.Val947Met) single nucleotide variant not provided [RCV002042439] Chr3:123300181 [GRCh38]
Chr3:123019028 [GRCh37]
Chr3:3q21.1		 benign|uncertain significance
NM_183357.3(ADCY5):c.2486G>C (p.Arg829Pro) single nucleotide variant not provided [RCV001871280] Chr3:123304140 [GRCh38]
Chr3:123022987 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_183357.3(ADCY5):c.2656G>A (p.Val886Ile) single nucleotide variant not provided [RCV001983651] Chr3:123303123 [GRCh38]
Chr3:123021970 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.463T>G (p.Ser155Ala) single nucleotide variant Inborn genetic diseases [RCV002558442]|not provided [RCV001945540] Chr3:123448083 [GRCh38]
Chr3:123166930 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3722TCAAGG[1] (p.1241VK[1]) microsatellite not provided [RCV001887646] Chr3:123284661..123284666 [GRCh38]
Chr3:123003508..123003513 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.178dup (p.Ala60fs) duplication Neurodevelopmental disorder with hyperkinetic movements and dyskinesia [RCV004596501]|not provided [RCV002037750] Chr3:123448367..123448368 [GRCh38]
Chr3:123167214..123167215 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_183357.3(ADCY5):c.2437G>A (p.Val813Ile) single nucleotide variant not provided [RCV001932689] Chr3:123314240 [GRCh38]
Chr3:123033087 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_183357.3(ADCY5):c.422C>T (p.Ala141Val) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV003448443]|Inborn genetic diseases [RCV004976091]|not provided [RCV001980732] Chr3:123448124 [GRCh38]
Chr3:123166971 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.133G>A (p.Ala45Thr) single nucleotide variant not provided [RCV001884707] Chr3:123448413 [GRCh38]
Chr3:123167260 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.333C>G (p.Cys111Trp) single nucleotide variant not provided [RCV001958397] Chr3:123448213 [GRCh38]
Chr3:123167060 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2272GAC[1] (p.Asp759del) microsatellite ADCY5-related disorder [RCV004538680]|Inborn genetic diseases [RCV002563631]|not provided [RCV001994704] Chr3:123318097..123318099 [GRCh38]
Chr3:123036944..123036946 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_183357.3(ADCY5):c.2969C>T (p.Thr990Met) single nucleotide variant not provided [RCV001974982] Chr3:123296178 [GRCh38]
Chr3:123015025 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3755A>G (p.Tyr1252Cys) single nucleotide variant not provided [RCV001925874] Chr3:123284639 [GRCh38]
Chr3:123003486 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.34T>C (p.Tyr12His) single nucleotide variant Inborn genetic diseases [RCV004975954]|not provided [RCV001955538] Chr3:123448512 [GRCh38]
Chr3:123167359 [GRCh37]
Chr3:3q21.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_183357.3(ADCY5):c.1630A>G (p.Met544Val) single nucleotide variant not provided [RCV001993788] Chr3:123330905 [GRCh38]
Chr3:123049752 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.203G>A (p.Arg68His) single nucleotide variant not provided [RCV002030944] Chr3:123448343 [GRCh38]
Chr3:123167190 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2360T>C (p.Ile787Thr) single nucleotide variant not provided [RCV001975540] Chr3:123314317 [GRCh38]
Chr3:123033164 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.602C>T (p.Ala201Val) single nucleotide variant Inborn genetic diseases [RCV002545306]|not provided [RCV002030018] Chr3:123447944 [GRCh38]
Chr3:123166791 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.400GGC[6] (p.Gly138dup) microsatellite not provided [RCV002048659] Chr3:123448131..123448132 [GRCh38]
Chr3:123166978..123166979 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2930+18G>A single nucleotide variant not provided [RCV002028736] Chr3:123297335 [GRCh38]
Chr3:123016182 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_183357.3(ADCY5):c.1807C>T (p.Arg603Cys) single nucleotide variant not provided [RCV001877346] Chr3:123327758 [GRCh38]
Chr3:123046605 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2504C>A (p.Thr835Asn) single nucleotide variant not provided [RCV001924495] Chr3:123304122 [GRCh38]
Chr3:123022969 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.825G>A (p.Ala275=) single nucleotide variant ADCY5-related disorder [RCV004538704]|not provided [RCV001998231] Chr3:123447721 [GRCh38]
Chr3:123166568 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_183357.3(ADCY5):c.982G>A (p.Gly328Ser) single nucleotide variant not provided [RCV001980145]|not specified [RCV002271708] Chr3:123447564 [GRCh38]
Chr3:123166411 [GRCh37]
Chr3:3q21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_183357.3(ADCY5):c.2619_2620delinsAC (p.Ser874Arg) indel not provided [RCV001920923] Chr3:123303159..123303160 [GRCh38]
Chr3:123022006..123022007 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2544G>A (p.Ala848=) single nucleotide variant not provided [RCV001978025] Chr3:123304082 [GRCh38]
Chr3:123022929 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_183357.3(ADCY5):c.77C>T (p.Pro26Leu) single nucleotide variant not provided [RCV001879559] Chr3:123448469 [GRCh38]
Chr3:123167316 [GRCh37]
Chr3:3q21.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_183357.3(ADCY5):c.3710G>A (p.Cys1237Tyr) single nucleotide variant not provided [RCV001881840] Chr3:123284684 [GRCh38]
Chr3:123003531 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3327+5A>C single nucleotide variant not provided [RCV001990669] Chr3:123291108 [GRCh38]
Chr3:123009955 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.551C>A (p.Ser184Tyr) single nucleotide variant not provided [RCV001933308] Chr3:123447995 [GRCh38]
Chr3:123166842 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3783_3786del (p.Ter1262SerextTer?) deletion not provided [RCV002026429] Chr3:123284608..123284611 [GRCh38]
Chr3:123003455..123003458 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.498G>C (p.Lys166Asn) single nucleotide variant not provided [RCV001991948] Chr3:123448048 [GRCh38]
Chr3:123166895 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3532+5G>A single nucleotide variant not provided [RCV002016872] Chr3:123289745 [GRCh38]
Chr3:123008592 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1981C>T (p.Arg661Cys) single nucleotide variant Inborn genetic diseases [RCV004043799]|not provided [RCV001996696] Chr3:123325429 [GRCh38]
Chr3:123044276 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.584C>T (p.Ser195Leu) single nucleotide variant not provided [RCV001960941] Chr3:123447962 [GRCh38]
Chr3:123166809 [GRCh37]
Chr3:3q21.1		 uncertain significance
NC_000003.11:g.(?_120365818)_(133465047_?)del deletion Alkaptonuria [RCV002035459] Chr3:120365818..133465047 [GRCh37]
Chr3:3q13.33-22.1		 pathogenic
NM_183357.3(ADCY5):c.3164G>A (p.Arg1055His) single nucleotide variant not provided [RCV001960252] Chr3:123291276 [GRCh38]
Chr3:123010123 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2116G>A (p.Ala706Thr) single nucleotide variant Inborn genetic diseases [RCV002552895]|not provided [RCV001924815] Chr3:123319814 [GRCh38]
Chr3:123038661 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_183357.3(ADCY5):c.395C>T (p.Pro132Leu) single nucleotide variant not provided [RCV001866318] Chr3:123448151 [GRCh38]
Chr3:123166998 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3119T>C (p.Leu1040Pro) single nucleotide variant not provided [RCV001918919]|not specified [RCV003401874] Chr3:123291321 [GRCh38]
Chr3:123010168 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3575G>A (p.Arg1192Gln) single nucleotide variant not provided [RCV001996523] Chr3:123286767 [GRCh38]
Chr3:123005614 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.169C>T (p.Pro57Ser) single nucleotide variant not provided [RCV002015660] Chr3:123448377 [GRCh38]
Chr3:123167224 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.817G>A (p.Val273Met) single nucleotide variant not provided [RCV001975325] Chr3:123447729 [GRCh38]
Chr3:123166576 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2560-3C>A single nucleotide variant not provided [RCV001955295] Chr3:123303222 [GRCh38]
Chr3:123022069 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1882C>T (p.Arg628Cys) single nucleotide variant not provided [RCV001978394] Chr3:123327683 [GRCh38]
Chr3:123046530 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.596C>T (p.Pro199Leu) single nucleotide variant not provided [RCV002128160] Chr3:123447950 [GRCh38]
Chr3:123166797 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.1761C>T (p.Asn587=) single nucleotide variant not provided [RCV002108401] Chr3:123328688 [GRCh38]
Chr3:123047535 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2559+15G>A single nucleotide variant not provided [RCV002090308] Chr3:123304052 [GRCh38]
Chr3:123022899 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2970G>A (p.Thr990=) single nucleotide variant not provided [RCV002166534] Chr3:123296177 [GRCh38]
Chr3:123015024 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1887C>T (p.Asn629=) single nucleotide variant Inborn genetic diseases [RCV004976234]|not provided [RCV002073806] Chr3:123327678 [GRCh38]
Chr3:123046525 [GRCh37]
Chr3:3q21.1		 benign|likely benign
NM_183357.3(ADCY5):c.21G>A (p.Val7=) single nucleotide variant not provided [RCV002076160] Chr3:123448525 [GRCh38]
Chr3:123167372 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.3658-9C>A single nucleotide variant not provided [RCV002129345] Chr3:123284745 [GRCh38]
Chr3:123003592 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2895C>T (p.Asn965=) single nucleotide variant not provided [RCV002091693] Chr3:123300125 [GRCh38]
Chr3:123018972 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.306C>T (p.Ala102=) single nucleotide variant not provided [RCV002165875] Chr3:123448240 [GRCh38]
Chr3:123167087 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.213C>T (p.Ser71=) single nucleotide variant not provided [RCV002191869] Chr3:123448333 [GRCh38]
Chr3:123167180 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.3074A>G (p.Glu1025Gly) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV002248962] Chr3:123291366 [GRCh38]
Chr3:123010213 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_183357.3(ADCY5):c.1806-5del deletion not provided [RCV002166650] Chr3:123327764 [GRCh38]
Chr3:123046611 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1127_1129del (p.Leu376_Lys377delinsGln) deletion not provided [RCV002106327] Chr3:123447417..123447419 [GRCh38]
Chr3:123166264..123166266 [GRCh37]
Chr3:3q21.1		 likely benign|conflicting interpretations of pathogenicity
NM_183357.3(ADCY5):c.1406+19del deletion not provided [RCV002127317] Chr3:123347763 [GRCh38]
Chr3:123066610 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.1948-9G>A single nucleotide variant not provided [RCV002187164] Chr3:123325471 [GRCh38]
Chr3:123044318 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2725-7C>T single nucleotide variant not provided [RCV002147313] Chr3:123300302 [GRCh38]
Chr3:123019149 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.330C>T (p.Asp110=) single nucleotide variant not provided [RCV002110917] Chr3:123448216 [GRCh38]
Chr3:123167063 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2238G>T (p.Glu746Asp) single nucleotide variant not provided [RCV002111169] Chr3:123319692 [GRCh38]
Chr3:123038539 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.3064-15G>T single nucleotide variant not provided [RCV002129718] Chr3:123291391 [GRCh38]
Chr3:123010238 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.2871C>T (p.Asn957=) single nucleotide variant not provided [RCV002115886] Chr3:123300149 [GRCh38]
Chr3:123018996 [GRCh37]
Chr3:3q21.1		 benign|likely benign
NM_183357.3(ADCY5):c.2112-19C>T single nucleotide variant not provided [RCV002174198] Chr3:123319837 [GRCh38]
Chr3:123038684 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1135-14C>T single nucleotide variant not provided [RCV002168854] Chr3:123352595 [GRCh38]
Chr3:123071442 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.3532+17G>T single nucleotide variant not provided [RCV002134503] Chr3:123289733 [GRCh38]
Chr3:123008580 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.3558C>T (p.Ala1186=) single nucleotide variant not provided [RCV002216194] Chr3:123286784 [GRCh38]
Chr3:123005631 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2311G>A (p.Val771Ile) single nucleotide variant not provided [RCV002131211] Chr3:123318063 [GRCh38]
Chr3:123036910 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.3282C>T (p.Val1094=) single nucleotide variant not provided [RCV002111385] Chr3:123291158 [GRCh38]
Chr3:123010005 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2845G>A (p.Val949Met) single nucleotide variant not provided [RCV002196841] Chr3:123300175 [GRCh38]
Chr3:123019022 [GRCh37]
Chr3:3q21.1		 likely benign|conflicting interpretations of pathogenicity
NM_183357.3(ADCY5):c.2449C>T (p.Pro817Ser) single nucleotide variant not provided [RCV002196968] Chr3:123304177 [GRCh38]
Chr3:123023024 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1647-12C>T single nucleotide variant not provided [RCV002206999] Chr3:123328814 [GRCh38]
Chr3:123047661 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1407-19T>C single nucleotide variant not provided [RCV002171805] Chr3:123332694 [GRCh38]
Chr3:123051541 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1285-13C>T single nucleotide variant not provided [RCV002131596] Chr3:123347916 [GRCh38]
Chr3:123066763 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2115C>T (p.Asn705=) single nucleotide variant not provided [RCV002094761] Chr3:123319815 [GRCh38]
Chr3:123038662 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.402C>T (p.Gly134=) single nucleotide variant not provided [RCV002077007] Chr3:123448144 [GRCh38]
Chr3:123166991 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2257-10C>T single nucleotide variant not provided [RCV002080079] Chr3:123318127 [GRCh38]
Chr3:123036974 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2655C>T (p.Ala885=) single nucleotide variant not provided [RCV002090944] Chr3:123303124 [GRCh38]
Chr3:123021971 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.879C>T (p.Phe293=) single nucleotide variant not provided [RCV002094729] Chr3:123447667 [GRCh38]
Chr3:123166514 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1746C>T (p.Phe582=) single nucleotide variant not provided [RCV002152040] Chr3:123328703 [GRCh38]
Chr3:123047550 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1080C>A (p.Leu360=) single nucleotide variant not provided [RCV002195810] Chr3:123447466 [GRCh38]
Chr3:123166313 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1835A>G (p.Asn612Ser) single nucleotide variant not provided [RCV002214301] Chr3:123327730 [GRCh38]
Chr3:123046577 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2499C>T (p.Asn833=) single nucleotide variant not provided [RCV002214957] Chr3:123304127 [GRCh38]
Chr3:123022974 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.3456C>T (p.Ala1152=) single nucleotide variant not provided [RCV002131738] Chr3:123289826 [GRCh38]
Chr3:123008673 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2755C>G (p.Leu919Val) single nucleotide variant not provided [RCV002195271] Chr3:123300265 [GRCh38]
Chr3:123019112 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2721C>T (p.Pro907=) single nucleotide variant not provided [RCV002178565] Chr3:123303058 [GRCh38]
Chr3:123021905 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.552C>G (p.Ser184=) single nucleotide variant not provided [RCV002103525] Chr3:123447994 [GRCh38]
Chr3:123166841 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.762G>C (p.Leu254=) single nucleotide variant ADCY5-related disorder [RCV004741252]|not provided [RCV002155695] Chr3:123447784 [GRCh38]
Chr3:123166631 [GRCh37]
Chr3:3q21.1		 benign|likely benign
NM_183357.3(ADCY5):c.2498A>G (p.Asn833Ser) single nucleotide variant not specified [RCV002246954] Chr3:123304128 [GRCh38]
Chr3:123022975 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.138C>T (p.Pro46=) single nucleotide variant not provided [RCV002197988] Chr3:123448408 [GRCh38]
Chr3:123167255 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2725-12C>G single nucleotide variant not provided [RCV002123351] Chr3:123300307 [GRCh38]
Chr3:123019154 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.1285-16G>A single nucleotide variant not provided [RCV002218474] Chr3:123347919 [GRCh38]
Chr3:123066766 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2257-19C>A single nucleotide variant not provided [RCV002098208] Chr3:123318136 [GRCh38]
Chr3:123036983 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2565G>A (p.Thr855=) single nucleotide variant not provided [RCV002098462] Chr3:123303214 [GRCh38]
Chr3:123022061 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.1806-8C>G single nucleotide variant not provided [RCV002136038] Chr3:123327767 [GRCh38]
Chr3:123046614 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2072A>T (p.Lys691Met) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV002248963] Chr3:123325338 [GRCh38]
Chr3:123044185 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_183357.3(ADCY5):c.2307G>A (p.Ser769=) single nucleotide variant not provided [RCV002156790] Chr3:123318067 [GRCh38]
Chr3:123036914 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.145T>G (p.Ser49Ala) single nucleotide variant Inborn genetic diseases [RCV003025420]|not provided [RCV002120207] Chr3:123448401 [GRCh38]
Chr3:123167248 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_183357.3(ADCY5):c.1646+18G>A single nucleotide variant not provided [RCV002122339] Chr3:123330871 [GRCh38]
Chr3:123049718 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.1716C>T (p.Cys572=) single nucleotide variant not provided [RCV002178050] Chr3:123328733 [GRCh38]
Chr3:123047580 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.1134+7G>A single nucleotide variant not provided [RCV002182801] Chr3:123447405 [GRCh38]
Chr3:123166252 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1875G>A (p.Gly625=) single nucleotide variant not provided [RCV002216619] Chr3:123327690 [GRCh38]
Chr3:123046537 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2772C>T (p.Phe924=) single nucleotide variant not provided [RCV002163481] Chr3:123300248 [GRCh38]
Chr3:123019095 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1518+18G>A single nucleotide variant not provided [RCV002141673] Chr3:123332546 [GRCh38]
Chr3:123051393 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.2442+18C>T single nucleotide variant not provided [RCV002143308] Chr3:123314217 [GRCh38]
Chr3:123033064 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.3344G>A (p.Arg1115Gln) single nucleotide variant not provided [RCV002178254] Chr3:123289938 [GRCh38]
Chr3:123008785 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2559+14C>T single nucleotide variant not provided [RCV002138514] Chr3:123304053 [GRCh38]
Chr3:123022900 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1674C>T (p.Asn558=) single nucleotide variant not provided [RCV002160940] Chr3:123328775 [GRCh38]
Chr3:123047622 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.765C>T (p.Val255=) single nucleotide variant not provided [RCV002097927] Chr3:123447781 [GRCh38]
Chr3:123166628 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.3658-15_3658-13del microsatellite not provided [RCV002144301] Chr3:123284749..123284751 [GRCh38]
Chr3:123003596..123003598 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2674G>A (p.Asp892Asn) single nucleotide variant not provided [RCV002135674] Chr3:123303105 [GRCh38]
Chr3:123021952 [GRCh37]
Chr3:3q21.1		 likely benign|conflicting interpretations of pathogenicity
NM_183357.3(ADCY5):c.3063+18T>G single nucleotide variant not provided [RCV002117808] Chr3:123296066 [GRCh38]
Chr3:123014913 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.2664C>T (p.Tyr888=) single nucleotide variant not provided [RCV002177427] Chr3:123303115 [GRCh38]
Chr3:123021962 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.3327+9C>T single nucleotide variant not provided [RCV002122947] Chr3:123291104 [GRCh38]
Chr3:123009951 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.621C>T (p.Ala207=) single nucleotide variant not provided [RCV002142509] Chr3:123447925 [GRCh38]
Chr3:123166772 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.3612C>T (p.Asn1204=) single nucleotide variant not provided [RCV002098311] Chr3:123286730 [GRCh38]
Chr3:123005577 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2560-4C>A single nucleotide variant not provided [RCV002139696] Chr3:123303223 [GRCh38]
Chr3:123022070 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2838C>T (p.Ile946=) single nucleotide variant ADCY5-related disorder [RCV004543855]|not provided [RCV002101971] Chr3:123300182 [GRCh38]
Chr3:123019029 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2199G>A (p.Arg733=) single nucleotide variant not provided [RCV002140543] Chr3:123319731 [GRCh38]
Chr3:123038578 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2889C>G (p.Thr963=) single nucleotide variant not provided [RCV002216518] Chr3:123300131 [GRCh38]
Chr3:123018978 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.3741C>A (p.Gly1247=) single nucleotide variant not provided [RCV002203208] Chr3:123284653 [GRCh38]
Chr3:123003500 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2883G>T (p.Leu961=) single nucleotide variant not provided [RCV002154126] Chr3:123300137 [GRCh38]
Chr3:123018984 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1209C>T (p.Ser403=) single nucleotide variant not provided [RCV002103930] Chr3:123352507 [GRCh38]
Chr3:123071354 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.1284+19C>G single nucleotide variant not provided [RCV002136198] Chr3:123352413 [GRCh38]
Chr3:123071260 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.3312C>T (p.Ile1104=) single nucleotide variant not provided [RCV002122120] Chr3:123291128 [GRCh38]
Chr3:123009975 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1805+13_1805+14inv inversion not provided [RCV002179971] Chr3:123328630..123328631 [GRCh38]
Chr3:123047477..123047478 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1935C>T (p.Cys645=) single nucleotide variant not provided [RCV002138690] Chr3:123327630 [GRCh38]
Chr3:123046477 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2649G>A (p.Glu883=) single nucleotide variant not provided [RCV002144238] Chr3:123303130 [GRCh38]
Chr3:123021977 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.2763C>T (p.Cys921=) single nucleotide variant not provided [RCV002181872] Chr3:123300257 [GRCh38]
Chr3:123019104 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.2443-9C>T single nucleotide variant not provided [RCV002124173] Chr3:123304192 [GRCh38]
Chr3:123023039 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.325G>T (p.Asp109Tyr) single nucleotide variant not provided [RCV003115849] Chr3:123448221 [GRCh38]
Chr3:123167068 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.2673C>T (p.Gly891=) single nucleotide variant not provided [RCV003114161] Chr3:123303106 [GRCh38]
Chr3:123021953 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2623C>T (p.Gln875Ter) single nucleotide variant not provided [RCV003115414] Chr3:123303156 [GRCh38]
Chr3:123022003 [GRCh37]
Chr3:3q21.1		 pathogenic
NC_000003.11:g.(?_121489192)_(125313644_?)dup duplication Familial hypocalciuric hypercalcemia [RCV003111142] Chr3:121489192..125313644 [GRCh37]
Chr3:3q13.33-21.2		 uncertain significance
NM_183357.3(ADCY5):c.2486G>A (p.Arg829Gln) single nucleotide variant not provided [RCV003121878] Chr3:123304140 [GRCh38]
Chr3:123022987 [GRCh37]
Chr3:3q21.1		 benign
NC_000003.11:g.(?_123003455)_(123512688_?)del deletion Aortic aneurysm, familial thoracic 7 [RCV003122993] Chr3:123003455..123512688 [GRCh37]
Chr3:3q21.1		 pathogenic
NC_000003.11:g.(?_123003455)_(125313644_?)dup duplication Aortic aneurysm, familial thoracic 7 [RCV003122995] Chr3:123003455..125313644 [GRCh37]
Chr3:3q21.1-21.2		 uncertain significance
NM_183357.3(ADCY5):c.23G>T (p.Ser8Ile) single nucleotide variant not provided [RCV003118946] Chr3:123448523 [GRCh38]
Chr3:123167370 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.261C>T (p.Asp87=) single nucleotide variant not provided [RCV003118966] Chr3:123448285 [GRCh38]
Chr3:123167132 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.106G>A (p.Asp36Asn) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV004788518] Chr3:123448440 [GRCh38]
Chr3:123167287 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.487C>T (p.Arg163Trp) single nucleotide variant not provided [RCV003156597] Chr3:123448059 [GRCh38]
Chr3:123166906 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.-1dup (p.Met1fs) duplication Dyskinesia with orofacial involvement, autosomal dominant [RCV002249231] Chr3:123448545..123448546 [GRCh38]
Chr3:123167392..123167393 [GRCh37]
Chr3:3q21.1		 pathogenic|uncertain significance
NM_183357.3(ADCY5):c.3180T>G (p.Asp1060Glu) single nucleotide variant not specified [RCV002246908] Chr3:123291260 [GRCh38]
Chr3:123010107 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2074G>A (p.Glu692Lys) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV002226838]|not provided [RCV003089213] Chr3:123325336 [GRCh38]
Chr3:123044183 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.352C>G (p.Gln118Glu) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV002290376] Chr3:123448194 [GRCh38]
Chr3:123167041 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.766A>C (p.Met256Leu) single nucleotide variant not provided [RCV002267546] Chr3:123447780 [GRCh38]
Chr3:123166627 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3163C>T (p.Arg1055Cys) single nucleotide variant not provided [RCV002265472] Chr3:123291277 [GRCh38]
Chr3:123010124 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3550G>A (p.Val1184Met) single nucleotide variant not provided [RCV002269427] Chr3:123286792 [GRCh38]
Chr3:123005639 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1655G>A (p.Arg552Gln) single nucleotide variant not specified [RCV002266186] Chr3:123328794 [GRCh38]
Chr3:123047641 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2564C>T (p.Thr855Met) single nucleotide variant not provided [RCV002269445] Chr3:123303215 [GRCh38]
Chr3:123022062 [GRCh37]
Chr3:3q21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_183357.3(ADCY5):c.1033G>T (p.Val345Leu) single nucleotide variant not provided [RCV002290885] Chr3:123447513 [GRCh38]
Chr3:123166360 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1313G>A (p.Arg438His) single nucleotide variant not provided [RCV003231882] Chr3:123347875 [GRCh38]
Chr3:123066722 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1268G>C (p.Arg423Pro) single nucleotide variant not provided [RCV002274704] Chr3:123352448 [GRCh38]
Chr3:123071295 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3593T>C (p.Ile1198Thr) single nucleotide variant not provided [RCV002269532] Chr3:123286749 [GRCh38]
Chr3:123005596 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2639A>G (p.His880Arg) single nucleotide variant not provided [RCV002469589] Chr3:123303140 [GRCh38]
Chr3:123021987 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1284+202G>A single nucleotide variant not provided [RCV002286933] Chr3:123352230 [GRCh38]
Chr3:123071077 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1135-190C>G single nucleotide variant not provided [RCV002287022] Chr3:123352771 [GRCh38]
Chr3:123071618 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.89C>T (p.Ser30Phe) single nucleotide variant not provided [RCV003156649] Chr3:123448457 [GRCh38]
Chr3:123167304 [GRCh37]
Chr3:3q21.1		 uncertain significance
GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3 copy number gain not provided [RCV002472621] Chr3:116620308..172042292 [GRCh37]
Chr3:3q13.31-26.31		 pathogenic
NM_183357.3(ADCY5):c.3061C>T (p.Gln1021Ter) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV002468889] Chr3:123296086 [GRCh38]
Chr3:123014933 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_183357.3(ADCY5):c.693_694delinsAA (p.Arg232Ser) indel not provided [RCV002303623] Chr3:123447852..123447853 [GRCh38]
Chr3:123166699..123166700 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3251A>G (p.Tyr1084Cys) single nucleotide variant not provided [RCV002301095] Chr3:123291189 [GRCh38]
Chr3:123010036 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1252C>G (p.Arg418Gly) single nucleotide variant not provided [RCV002305877] Chr3:123352464 [GRCh38]
Chr3:123071311 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_183357.3(ADCY5):c.374G>C (p.Gly125Ala) single nucleotide variant not provided [RCV002295693] Chr3:123448172 [GRCh38]
Chr3:123167019 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1518+1G>T single nucleotide variant not provided [RCV002994458] Chr3:123332563 [GRCh38]
Chr3:123051410 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_183357.3(ADCY5):c.2129C>T (p.Ala710Val) single nucleotide variant not provided [RCV002775366] Chr3:123319801 [GRCh38]
Chr3:123038648 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.1134+10G>T single nucleotide variant not provided [RCV002615444] Chr3:123447402 [GRCh38]
Chr3:123166249 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.977C>T (p.Ser326Phe) single nucleotide variant Inborn genetic diseases [RCV002687438]|not provided [RCV005059209] Chr3:123447569 [GRCh38]
Chr3:123166416 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2319C>G (p.Leu773=) single nucleotide variant not provided [RCV002861296] Chr3:123318055 [GRCh38]
Chr3:123036902 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1948-5T>C single nucleotide variant not provided [RCV002991733] Chr3:123325467 [GRCh38]
Chr3:123044314 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.3183G>A (p.Glu1061=) single nucleotide variant not provided [RCV002975665] Chr3:123291257 [GRCh38]
Chr3:123010104 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.2344A>G (p.Ile782Val) single nucleotide variant not provided [RCV002776112] Chr3:123318030 [GRCh38]
Chr3:123036877 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.934G>T (p.Val312Phe) single nucleotide variant not provided [RCV002819747] Chr3:123447612 [GRCh38]
Chr3:123166459 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2890G>T (p.Ala964Ser) single nucleotide variant Inborn genetic diseases [RCV003358030]|not provided [RCV002948217] Chr3:123300130 [GRCh38]
Chr3:123018977 [GRCh37]
Chr3:3q21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_183357.3(ADCY5):c.1063G>T (p.Val355Leu) single nucleotide variant not provided [RCV002904041] Chr3:123447483 [GRCh38]
Chr3:123166330 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2070C>T (p.Ser690=) single nucleotide variant not provided [RCV003032818] Chr3:123325340 [GRCh38]
Chr3:123044187 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.326A>G (p.Asp109Gly) single nucleotide variant not provided [RCV002730680] Chr3:123448220 [GRCh38]
Chr3:123167067 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.973G>T (p.Ala325Ser) single nucleotide variant Inborn genetic diseases [RCV002684209] Chr3:123447573 [GRCh38]
Chr3:123166420 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1134+31208G>A single nucleotide variant Inborn genetic diseases [RCV002751877] Chr3:123416204 [GRCh38]
Chr3:123135051 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1879G>A (p.Glu627Lys) single nucleotide variant Inborn genetic diseases [RCV002777160]|not provided [RCV005059260] Chr3:123327686 [GRCh38]
Chr3:123046533 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2908T>C (p.Phe970Leu) single nucleotide variant not provided [RCV002512233] Chr3:123297375 [GRCh38]
Chr3:123016222 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3357G>A (p.Leu1119=) single nucleotide variant not provided [RCV002727130] Chr3:123289925 [GRCh38]
Chr3:123008772 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2834T>C (p.Leu945Pro) single nucleotide variant not provided [RCV003075917] Chr3:123300186 [GRCh38]
Chr3:123019033 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2900+20C>T single nucleotide variant not provided [RCV002618012] Chr3:123300100 [GRCh38]
Chr3:123018947 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.30G>A (p.Pro10=) single nucleotide variant not provided [RCV002510154] Chr3:123448516 [GRCh38]
Chr3:123167363 [GRCh37]
Chr3:3q21.1		 conflicting interpretations of pathogenicity
NM_183357.3(ADCY5):c.233A>G (p.Asp78Gly) single nucleotide variant not provided [RCV002621404] Chr3:123448313 [GRCh38]
Chr3:123167160 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.333C>T (p.Cys111=) single nucleotide variant not provided [RCV003021848] Chr3:123448213 [GRCh38]
Chr3:123167060 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.3172C>T (p.Arg1058Cys) single nucleotide variant not provided [RCV002740490] Chr3:123291268 [GRCh38]
Chr3:123010115 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.44A>G (p.Gln15Arg) single nucleotide variant Inborn genetic diseases [RCV004973563]|not provided [RCV002695282] Chr3:123448502 [GRCh38]
Chr3:123167349 [GRCh37]
Chr3:3q21.1		 benign|uncertain significance
NM_183357.3(ADCY5):c.1026G>A (p.Leu342=) single nucleotide variant not provided [RCV002620281] Chr3:123447520 [GRCh38]
Chr3:123166367 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.471G>T (p.Glu157Asp) single nucleotide variant Inborn genetic diseases [RCV004978441]|not provided [RCV003002243] Chr3:123448075 [GRCh38]
Chr3:123166922 [GRCh37]
Chr3:3q21.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_183357.3(ADCY5):c.2179A>G (p.Arg727Gly) single nucleotide variant not provided [RCV003053789] Chr3:123319751 [GRCh38]
Chr3:123038598 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.937C>A (p.Gln313Lys) single nucleotide variant not provided [RCV002760878] Chr3:123447609 [GRCh38]
Chr3:123166456 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3748A>C (p.Met1250Leu) single nucleotide variant not provided [RCV003039230] Chr3:123284646 [GRCh38]
Chr3:123003493 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1036C>G (p.Arg346Gly) single nucleotide variant Inborn genetic diseases [RCV002738197] Chr3:123447510 [GRCh38]
Chr3:123166357 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1806-6del deletion not provided [RCV002690892] Chr3:123327765 [GRCh38]
Chr3:123046612 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.564C>T (p.Gly188=) single nucleotide variant not provided [RCV002760229] Chr3:123447982 [GRCh38]
Chr3:123166829 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1575del (p.Leu526fs) deletion not provided [RCV002846527] Chr3:123330960 [GRCh38]
Chr3:123049807 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_183357.3(ADCY5):c.3646G>A (p.Asp1216Asn) single nucleotide variant Inborn genetic diseases [RCV003001167]|not provided [RCV003730350] Chr3:123286696 [GRCh38]
Chr3:123005543 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1931G>A (p.Arg644His) single nucleotide variant not provided [RCV002705343] Chr3:123327634 [GRCh38]
Chr3:123046481 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2446T>C (p.Phe816Leu) single nucleotide variant Inborn genetic diseases [RCV002845144] Chr3:123304180 [GRCh38]
Chr3:123023027 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.25C>G (p.Pro9Ala) single nucleotide variant not provided [RCV003019727] Chr3:123448521 [GRCh38]
Chr3:123167368 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2575A>G (p.Arg859Gly) single nucleotide variant Inborn genetic diseases [RCV002869242] Chr3:123303204 [GRCh38]
Chr3:123022051 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1854C>T (p.Tyr618=) single nucleotide variant not provided [RCV002620512] Chr3:123327711 [GRCh38]
Chr3:123046558 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1969G>A (p.Ala657Thr) single nucleotide variant Inborn genetic diseases [RCV004614256]|not provided [RCV002926874] Chr3:123325441 [GRCh38]
Chr3:123044288 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_183357.3(ADCY5):c.1877G>A (p.Gly626Asp) single nucleotide variant Inborn genetic diseases [RCV002799432] Chr3:123327688 [GRCh38]
Chr3:123046535 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1104C>A (p.Thr368=) single nucleotide variant not provided [RCV002796173] Chr3:123447442 [GRCh38]
Chr3:123166289 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1284+14dup duplication not provided [RCV002735923] Chr3:123352417..123352418 [GRCh38]
Chr3:123071264..123071265 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.2984C>T (p.Ser995Leu) single nucleotide variant Inborn genetic diseases [RCV002692278] Chr3:123296163 [GRCh38]
Chr3:123015010 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1888G>A (p.Ala630Thr) single nucleotide variant not provided [RCV002622636] Chr3:123327677 [GRCh38]
Chr3:123046524 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2740G>T (p.Val914Leu) single nucleotide variant not provided [RCV002796063] Chr3:123300280 [GRCh38]
Chr3:123019127 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2615G>T (p.Ser872Ile) single nucleotide variant Inborn genetic diseases [RCV004614293]|not provided [RCV002979300] Chr3:123303164 [GRCh38]
Chr3:123022011 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_183357.3(ADCY5):c.2976C>G (p.Ile992Met) single nucleotide variant Inborn genetic diseases [RCV002735479]|not provided [RCV002735478] Chr3:123296171 [GRCh38]
Chr3:123015018 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.244C>A (p.Pro82Thr) single nucleotide variant not provided [RCV002592806] Chr3:123448302 [GRCh38]
Chr3:123167149 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.160A>G (p.Thr54Ala) single nucleotide variant not provided [RCV002949005] Chr3:123448386 [GRCh38]
Chr3:123167233 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.437C>T (p.Ala146Val) single nucleotide variant Inborn genetic diseases [RCV002763262] Chr3:123448109 [GRCh38]
Chr3:123166956 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3457G>A (p.Asp1153Asn) single nucleotide variant Inborn genetic diseases [RCV002958940]|not provided [RCV002966713] Chr3:123289825 [GRCh38]
Chr3:123008672 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3695C>T (p.Thr1232Met) single nucleotide variant Inborn genetic diseases [RCV003348853]|not provided [RCV002576294] Chr3:123284699 [GRCh38]
Chr3:123003546 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.400GGC[2] (p.Gly136_Gly138del) microsatellite not provided [RCV002597390] Chr3:123448132..123448140 [GRCh38]
Chr3:123166979..123166987 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2900+11C>T single nucleotide variant not provided [RCV002596782] Chr3:123300109 [GRCh38]
Chr3:123018956 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.650G>A (p.Arg217His) single nucleotide variant not provided [RCV003041941] Chr3:123447896 [GRCh38]
Chr3:123166743 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2651C>T (p.Ser884Leu) single nucleotide variant not provided [RCV002573825] Chr3:123303128 [GRCh38]
Chr3:123021975 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.996C>A (p.Thr332=) single nucleotide variant not provided [RCV002917836] Chr3:123447550 [GRCh38]
Chr3:123166397 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1024C>G (p.Leu342Val) single nucleotide variant not provided [RCV002895037] Chr3:123447522 [GRCh38]
Chr3:123166369 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1947+16G>A single nucleotide variant not provided [RCV002574866] Chr3:123327602 [GRCh38]
Chr3:123046449 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1518+17C>T single nucleotide variant not provided [RCV002572712] Chr3:123332547 [GRCh38]
Chr3:123051394 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.390G>A (p.Ala130=) single nucleotide variant not provided [RCV002642854] Chr3:123448156 [GRCh38]
Chr3:123167003 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1701C>T (p.Ser567=) single nucleotide variant not provided [RCV002596028] Chr3:123328748 [GRCh38]
Chr3:123047595 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.458C>T (p.Pro153Leu) single nucleotide variant Inborn genetic diseases [RCV002742143] Chr3:123448088 [GRCh38]
Chr3:123166935 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1601C>G (p.Ala534Gly) single nucleotide variant not provided [RCV003039761] Chr3:123330934 [GRCh38]
Chr3:123049781 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3328-14C>T single nucleotide variant not provided [RCV002594267] Chr3:123289968 [GRCh38]
Chr3:123008815 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1498C>T (p.Arg500Cys) single nucleotide variant not provided [RCV002741889] Chr3:123332584 [GRCh38]
Chr3:123051431 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.51T>C (p.Thr17=) single nucleotide variant not provided [RCV002851436] Chr3:123448495 [GRCh38]
Chr3:123167342 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.67C>G (p.Arg23Gly) single nucleotide variant Inborn genetic diseases [RCV002788193]|not provided [RCV003777751] Chr3:123448479 [GRCh38]
Chr3:123167326 [GRCh37]
Chr3:3q21.1		 benign|uncertain significance
NM_183357.3(ADCY5):c.3252C>T (p.Tyr1084=) single nucleotide variant not provided [RCV002623699] Chr3:123291188 [GRCh38]
Chr3:123010035 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2354+13G>A single nucleotide variant not provided [RCV002666578] Chr3:123318007 [GRCh38]
Chr3:123036854 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.3328-15G>T single nucleotide variant not provided [RCV002786646] Chr3:123289969 [GRCh38]
Chr3:123008816 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.847A>C (p.Ile283Leu) single nucleotide variant not provided [RCV002573782] Chr3:123447699 [GRCh38]
Chr3:123166546 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.3109C>A (p.Arg1037=) single nucleotide variant not provided [RCV002623361] Chr3:123291331 [GRCh38]
Chr3:123010178 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.108T>C (p.Asp36=) single nucleotide variant not provided [RCV002643407] Chr3:123448438 [GRCh38]
Chr3:123167285 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.3658-18C>T single nucleotide variant not provided [RCV002625751] Chr3:123284754 [GRCh38]
Chr3:123003601 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1948-19C>T single nucleotide variant not provided [RCV003006161] Chr3:123325481 [GRCh38]
Chr3:123044328 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1015A>G (p.Ile339Val) single nucleotide variant not provided [RCV002643061] Chr3:123447531 [GRCh38]
Chr3:123166378 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.371_372delinsTT (p.Ser124Ile) indel not provided [RCV003024849] Chr3:123448174..123448175 [GRCh38]
Chr3:123167021..123167022 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1953A>G (p.Glu651=) single nucleotide variant not provided [RCV002852873] Chr3:123325457 [GRCh38]
Chr3:123044304 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1685G>A (p.Arg562His) single nucleotide variant not provided [RCV003022182] Chr3:123328764 [GRCh38]
Chr3:123047611 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_183357.3(ADCY5):c.2900+2T>G single nucleotide variant not provided [RCV003058953] Chr3:123300118 [GRCh38]
Chr3:123018965 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_183357.3(ADCY5):c.2089-15A>G single nucleotide variant not provided [RCV002701293] Chr3:123320786 [GRCh38]
Chr3:123039633 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.3109C>T (p.Arg1037Trp) single nucleotide variant Inborn genetic diseases [RCV002743315] Chr3:123291331 [GRCh38]
Chr3:123010178 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2905TTC[1] (p.Phe970del) microsatellite not provided [RCV002805345] Chr3:123297373..123297375 [GRCh38]
Chr3:123016220..123016222 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.764T>A (p.Val255Asp) single nucleotide variant Inborn genetic diseases [RCV002875200] Chr3:123447782 [GRCh38]
Chr3:123166629 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1494C>T (p.Phe498=) single nucleotide variant not provided [RCV002623712] Chr3:123332588 [GRCh38]
Chr3:123051435 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.505G>A (p.Ala169Thr) single nucleotide variant Inborn genetic diseases [RCV002644170]|not provided [RCV002644169] Chr3:123448041 [GRCh38]
Chr3:123166888 [GRCh37]
Chr3:3q21.1		 benign|uncertain significance
NM_183357.3(ADCY5):c.2724+10G>A single nucleotide variant not provided [RCV002675955] Chr3:123303045 [GRCh38]
Chr3:123021892 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2860C>T (p.Leu954Phe) single nucleotide variant Inborn genetic diseases [RCV002651917] Chr3:123300160 [GRCh38]
Chr3:123019007 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1948-4C>T single nucleotide variant not provided [RCV002676369] Chr3:123325466 [GRCh38]
Chr3:123044313 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1566C>T (p.Cys522=) single nucleotide variant not provided [RCV002650309] Chr3:123330969 [GRCh38]
Chr3:123049816 [GRCh37]
Chr3:3q21.1		 benign|likely benign
NM_183357.3(ADCY5):c.7G>A (p.Gly3Ser) single nucleotide variant not provided [RCV002676253] Chr3:123448539 [GRCh38]
Chr3:123167386 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2780T>A (p.Ile927Asn) single nucleotide variant not provided [RCV002672027] Chr3:123300240 [GRCh38]
Chr3:123019087 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3064-5C>T single nucleotide variant not provided [RCV002672119] Chr3:123291381 [GRCh38]
Chr3:123010228 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1646+13C>T single nucleotide variant not provided [RCV002672192] Chr3:123330876 [GRCh38]
Chr3:123049723 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1914G>A (p.Glu638=) single nucleotide variant not provided [RCV002578993] Chr3:123327651 [GRCh38]
Chr3:123046498 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.48G>A (p.Lys16=) single nucleotide variant not provided [RCV003086419] Chr3:123448498 [GRCh38]
Chr3:123167345 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.3242C>T (p.Ser1081Phe) single nucleotide variant not provided [RCV003031062] Chr3:123291198 [GRCh38]
Chr3:123010045 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2015C>T (p.Pro672Leu) single nucleotide variant Inborn genetic diseases [RCV002702662] Chr3:123325395 [GRCh38]
Chr3:123044242 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3273C>T (p.Asn1091=) single nucleotide variant not provided [RCV002579207] Chr3:123291167 [GRCh38]
Chr3:123010014 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2112-4C>T single nucleotide variant not provided [RCV002649270] Chr3:123319822 [GRCh38]
Chr3:123038669 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2407G>A (p.Val803Met) single nucleotide variant not provided [RCV003028874] Chr3:123314270 [GRCh38]
Chr3:123033117 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.226G>C (p.Asp76His) single nucleotide variant Inborn genetic diseases [RCV004064967]|not provided [RCV002856871] Chr3:123448320 [GRCh38]
Chr3:123167167 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_183357.3(ADCY5):c.2652G>A (p.Ser884=) single nucleotide variant not provided [RCV002653444] Chr3:123303127 [GRCh38]
Chr3:123021974 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1045G>T (p.Ala349Ser) single nucleotide variant not provided [RCV002635280] Chr3:123447501 [GRCh38]
Chr3:123166348 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.412G>C (p.Gly138Arg) single nucleotide variant Inborn genetic diseases [RCV002723657] Chr3:123448134 [GRCh38]
Chr3:123166981 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2658C>T (p.Val886=) single nucleotide variant not provided [RCV002943009] Chr3:123303121 [GRCh38]
Chr3:123021968 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2163C>T (p.Gly721=) single nucleotide variant not provided [RCV002604776] Chr3:123319767 [GRCh38]
Chr3:123038614 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2355-17C>T single nucleotide variant not provided [RCV002605453] Chr3:123314339 [GRCh38]
Chr3:123033186 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2134C>T (p.Pro712Ser) single nucleotide variant not provided [RCV002582899] Chr3:123319796 [GRCh38]
Chr3:123038643 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3277G>A (p.Gly1093Ser) single nucleotide variant not provided [RCV003154166] Chr3:123291163 [GRCh38]
Chr3:123010010 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.667T>C (p.Ser223Pro) single nucleotide variant Inborn genetic diseases [RCV002656248] Chr3:123447879 [GRCh38]
Chr3:123166726 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.409G>C (p.Gly137Arg) single nucleotide variant Inborn genetic diseases [RCV002723656] Chr3:123448137 [GRCh38]
Chr3:123166984 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2257-11T>C single nucleotide variant not provided [RCV002585874] Chr3:123318128 [GRCh38]
Chr3:123036975 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.552C>T (p.Ser184=) single nucleotide variant not provided [RCV002609629] Chr3:123447994 [GRCh38]
Chr3:123166841 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2917G>A (p.Gly973Arg) single nucleotide variant not provided [RCV002585067] Chr3:123297366 [GRCh38]
Chr3:123016213 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1646+15C>G single nucleotide variant not provided [RCV002586952] Chr3:123330874 [GRCh38]
Chr3:123049721 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1446G>A (p.Ala482=) single nucleotide variant not provided [RCV003068695] Chr3:123332636 [GRCh38]
Chr3:123051483 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.3051C>T (p.Leu1017=) single nucleotide variant not provided [RCV002588144] Chr3:123296096 [GRCh38]
Chr3:123014943 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2829C>T (p.Tyr943=) single nucleotide variant not provided [RCV002608107] Chr3:123300191 [GRCh38]
Chr3:123019038 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.407G>C (p.Gly136Ala) single nucleotide variant Inborn genetic diseases [RCV002723655] Chr3:123448139 [GRCh38]
Chr3:123166986 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2560-4C>G single nucleotide variant not provided [RCV002634840] Chr3:123303223 [GRCh38]
Chr3:123022070 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.228C>T (p.Asp76=) single nucleotide variant not provided [RCV002583955] Chr3:123448318 [GRCh38]
Chr3:123167165 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1184G>A (p.Cys395Tyr) single nucleotide variant Inborn genetic diseases [RCV003277774] Chr3:123352532 [GRCh38]
Chr3:123071379 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1406+69_1406+70insCTTT insertion not specified [RCV004598474] Chr3:123347712..123347713 [GRCh38]
Chr3:123066559..123066560 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.434C>G (p.Ser145Trp) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV004788399] Chr3:123448112 [GRCh38]
Chr3:123166959 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.611C>T (p.Ser204Phe) single nucleotide variant Inborn genetic diseases [RCV003216971] Chr3:123447935 [GRCh38]
Chr3:123166782 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.17G>A (p.Ser6Asn) single nucleotide variant not provided [RCV003227362] Chr3:123448529 [GRCh38]
Chr3:123167376 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1134+31207A>G single nucleotide variant not provided [RCV003223146] Chr3:123416205 [GRCh38]
Chr3:123135052 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.427G>C (p.Ala143Pro) single nucleotide variant not provided [RCV003141210] Chr3:123448119 [GRCh38]
Chr3:123166966 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2558T>C (p.Met853Thr) single nucleotide variant not provided [RCV003141209] Chr3:123304068 [GRCh38]
Chr3:123022915 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2872G>A (p.Ala958Thr) single nucleotide variant not provided [RCV003141208] Chr3:123300148 [GRCh38]
Chr3:123018995 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2306C>T (p.Ser769Leu) single nucleotide variant not provided [RCV003141207] Chr3:123318068 [GRCh38]
Chr3:123036915 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2554A>C (p.Asn852His) single nucleotide variant Inborn genetic diseases [RCV003210354] Chr3:123304072 [GRCh38]
Chr3:123022919 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.19G>T (p.Val7Leu) single nucleotide variant not provided [RCV003323120] Chr3:123448527 [GRCh38]
Chr3:123167374 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1135-37730A>G single nucleotide variant not specified [RCV004598485] Chr3:123390311 [GRCh38]
Chr3:123109158 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.1135-38158T>C single nucleotide variant not specified [RCV004598491] Chr3:123390739 [GRCh38]
Chr3:123109586 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.1948-3C>A single nucleotide variant not provided [RCV003325089] Chr3:123325465 [GRCh38]
Chr3:123044312 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1862A>G (p.Glu621Gly) single nucleotide variant not provided [RCV003318904] Chr3:123327703 [GRCh38]
Chr3:123046550 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3086T>G (p.Met1029Arg) single nucleotide variant not provided [RCV003329900] Chr3:123291354 [GRCh38]
Chr3:123010201 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.253G>C (p.Gly85Arg) single nucleotide variant not provided [RCV003328804] Chr3:123448293 [GRCh38]
Chr3:123167140 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.873C>T (p.Ala291=) single nucleotide variant not provided [RCV003327123] Chr3:123447673 [GRCh38]
Chr3:123166520 [GRCh37]
Chr3:3q21.1		 likely benign
GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1 copy number loss Chromosome 3q13.31 deletion syndrome [RCV003327614] Chr3:93979547..124774010 [GRCh38]
Chr3:3q11.1-21.2		 pathogenic
NM_183357.3(ADCY5):c.989G>A (p.Trp330Ter) single nucleotide variant ADCY5-related disorder [RCV003387603] Chr3:123447557 [GRCh38]
Chr3:123166404 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_183357.3(ADCY5):c.1312C>T (p.Arg438Cys) single nucleotide variant Inborn genetic diseases [RCV003357873] Chr3:123347876 [GRCh38]
Chr3:123066723 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1007T>C (p.Ile336Thr) single nucleotide variant Inborn genetic diseases [RCV003381113]|not provided [RCV003778073] Chr3:123447539 [GRCh38]
Chr3:123166386 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1262C>A (p.Ser421Ter) single nucleotide variant not provided [RCV003447844] Chr3:123352454 [GRCh38]
Chr3:123071301 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic
NM_183357.3(ADCY5):c.1268G>A (p.Arg423Gln) single nucleotide variant not provided [RCV003881103] Chr3:123352448 [GRCh38]
Chr3:123071295 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1698C>T (p.His566=) single nucleotide variant not provided [RCV003457385] Chr3:123328751 [GRCh38]
Chr3:123047598 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2509G>T (p.Val837Phe) single nucleotide variant not provided [RCV003569810] Chr3:123304117 [GRCh38]
Chr3:123022964 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2256+4C>T single nucleotide variant not provided [RCV003543668] Chr3:123319670 [GRCh38]
Chr3:123038517 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1170C>T (p.Asn390=) single nucleotide variant not provided [RCV003569280] Chr3:123352546 [GRCh38]
Chr3:123071393 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2934T>G (p.Pro978=) single nucleotide variant not provided [RCV003427308] Chr3:123296213 [GRCh38]
Chr3:123015060 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2641G>A (p.Val881Met) single nucleotide variant not provided [RCV003427310] Chr3:123303138 [GRCh38]
Chr3:123021985 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3642A>G (p.Val1214=) single nucleotide variant not provided [RCV003427307] Chr3:123286700 [GRCh38]
Chr3:123005547 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2896G>A (p.Ala966Thr) single nucleotide variant not provided [RCV003427309] Chr3:123300124 [GRCh38]
Chr3:123018971 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1646C>T (p.Ser549Leu) single nucleotide variant not provided [RCV004777087] Chr3:123330889 [GRCh38]
Chr3:123049736 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1646+17C>T single nucleotide variant not provided [RCV003826081] Chr3:123330872 [GRCh38]
Chr3:123049719 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1108G>A (p.Ala370Thr) single nucleotide variant not provided [RCV003457386] Chr3:123447438 [GRCh38]
Chr3:123166285 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.327C>A (p.Asp109Glu) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV003388806] Chr3:123448219 [GRCh38]
Chr3:123167066 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2373C>T (p.Ser791=) single nucleotide variant not provided [RCV003427311] Chr3:123314304 [GRCh38]
Chr3:123033151 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1503T>C (p.Phe501=) single nucleotide variant not provided [RCV003427312] Chr3:123332579 [GRCh38]
Chr3:123051426 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1126C>T (p.Leu376=) single nucleotide variant not provided [RCV003427313] Chr3:123447420 [GRCh38]
Chr3:123166267 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.6C>G (p.Ser2=) single nucleotide variant not provided [RCV003427314] Chr3:123448540 [GRCh38]
Chr3:123167387 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1151T>C (p.Leu384Pro) single nucleotide variant not provided [RCV003442444] Chr3:123352565 [GRCh38]
Chr3:123071412 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.880C>T (p.His294Tyr) single nucleotide variant not provided [RCV003489532] Chr3:123447666 [GRCh38]
Chr3:123166513 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3243C>T (p.Ser1081=) single nucleotide variant not provided [RCV003849201] Chr3:123291197 [GRCh38]
Chr3:123010044 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2616C>T (p.Ser872=) single nucleotide variant not provided [RCV003829255] Chr3:123303163 [GRCh38]
Chr3:123022010 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.238G>C (p.Asp80His) single nucleotide variant not provided [RCV003739625] Chr3:123448308 [GRCh38]
Chr3:123167155 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1987A>C (p.Arg663=) single nucleotide variant not provided [RCV003696760] Chr3:123325423 [GRCh38]
Chr3:123044270 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.779A>G (p.His260Arg) single nucleotide variant not provided [RCV003573030] Chr3:123447767 [GRCh38]
Chr3:123166614 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1773A>G (p.Leu591=) single nucleotide variant not provided [RCV003830085] Chr3:123328676 [GRCh38]
Chr3:123047523 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.871G>A (p.Ala291Thr) single nucleotide variant not provided [RCV003849349] Chr3:123447675 [GRCh38]
Chr3:123166522 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3742G>A (p.Glu1248Lys) single nucleotide variant not provided [RCV003848995] Chr3:123284652 [GRCh38]
Chr3:123003499 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.117G>A (p.Ala39=) single nucleotide variant not provided [RCV003691791] Chr3:123448429 [GRCh38]
Chr3:123167276 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2482G>A (p.Val828Met) single nucleotide variant not provided [RCV003573666] Chr3:123304144 [GRCh38]
Chr3:123022991 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1515C>T (p.Ala505=) single nucleotide variant not provided [RCV003575371] Chr3:123332567 [GRCh38]
Chr3:123051414 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1806-7C>A single nucleotide variant not provided [RCV003826256] Chr3:123327766 [GRCh38]
Chr3:123046613 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2298G>C (p.Ala766=) single nucleotide variant not provided [RCV003877469] Chr3:123318076 [GRCh38]
Chr3:123036923 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2089-3T>C single nucleotide variant not provided [RCV003689594] Chr3:123320774 [GRCh38]
Chr3:123039621 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3679G>A (p.Val1227Met) single nucleotide variant not provided [RCV003578069] Chr3:123284715 [GRCh38]
Chr3:123003562 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.320G>T (p.Gly107Val) single nucleotide variant not provided [RCV003578427] Chr3:123448226 [GRCh38]
Chr3:123167073 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3622C>T (p.Arg1208Cys) single nucleotide variant Neurodevelopmental disorder with hyperkinetic movements and dyskinesia [RCV003493383] Chr3:123286720 [GRCh38]
Chr3:123005567 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_183357.3(ADCY5):c.2981T>C (p.Ile994Thr) single nucleotide variant not provided [RCV003826770] Chr3:123296166 [GRCh38]
Chr3:123015013 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1134+8C>G single nucleotide variant not provided [RCV003689197] Chr3:123447404 [GRCh38]
Chr3:123166251 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2781C>T (p.Ile927=) single nucleotide variant not provided [RCV003714674] Chr3:123300239 [GRCh38]
Chr3:123019086 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2930+7T>C single nucleotide variant not provided [RCV003881051] Chr3:123297346 [GRCh38]
Chr3:123016193 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.326A>T (p.Asp109Val) single nucleotide variant not provided [RCV003824826] Chr3:123448220 [GRCh38]
Chr3:123167067 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2982C>T (p.Ile994=) single nucleotide variant not provided [RCV003827505] Chr3:123296165 [GRCh38]
Chr3:123015012 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.285C>T (p.Phe95=) single nucleotide variant not provided [RCV003828343] Chr3:123448261 [GRCh38]
Chr3:123167108 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2620A>G (p.Ser874Gly) single nucleotide variant not provided [RCV005085109] Chr3:123303159 [GRCh38]
Chr3:123022006 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.740C>T (p.Ala247Val) single nucleotide variant not provided [RCV003833011] Chr3:123447806 [GRCh38]
Chr3:123166653 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.822G>A (p.Leu274=) single nucleotide variant not provided [RCV003851479] Chr3:123447724 [GRCh38]
Chr3:123166571 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2817C>T (p.Ile939=) single nucleotide variant not provided [RCV003835486] Chr3:123300203 [GRCh38]
Chr3:123019050 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.308G>T (p.Trp103Leu) single nucleotide variant not provided [RCV003698314] Chr3:123448238 [GRCh38]
Chr3:123167085 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1116C>G (p.Asp372Glu) single nucleotide variant not provided [RCV003699452] Chr3:123447430 [GRCh38]
Chr3:123166277 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.415_425del (p.Ser139fs) deletion not provided [RCV003833613] Chr3:123448121..123448131 [GRCh38]
Chr3:123166968..123166978 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_183357.3(ADCY5):c.2916C>T (p.Asn972=) single nucleotide variant not provided [RCV003833606] Chr3:123297367 [GRCh38]
Chr3:123016214 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.947G>T (p.Gly316Val) single nucleotide variant not provided [RCV003580632] Chr3:123447599 [GRCh38]
Chr3:123166446 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2377T>C (p.Tyr793His) single nucleotide variant Inborn genetic diseases [RCV004374200]|not provided [RCV003726789] Chr3:123314300 [GRCh38]
Chr3:123033147 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_183357.3(ADCY5):c.915C>T (p.Leu305=) single nucleotide variant not provided [RCV003835430] Chr3:123447631 [GRCh38]
Chr3:123166478 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.460C>T (p.Arg154Cys) single nucleotide variant not provided [RCV003839340] Chr3:123448086 [GRCh38]
Chr3:123166933 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.828_829delinsTC (p.Ala277Pro) indel not provided [RCV003833815] Chr3:123447717..123447718 [GRCh38]
Chr3:123166564..123166565 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.676C>G (p.Leu226Val) single nucleotide variant not provided [RCV003674131] Chr3:123447870 [GRCh38]
Chr3:123166717 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3543C>T (p.Ile1181=) single nucleotide variant not provided [RCV003724876] Chr3:123286799 [GRCh38]
Chr3:123005646 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.541G>A (p.Gly181Ser) single nucleotide variant not provided [RCV003559387] Chr3:123448005 [GRCh38]
Chr3:123166852 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1135-18T>C single nucleotide variant not provided [RCV003672167] Chr3:123352599 [GRCh38]
Chr3:123071446 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2318T>C (p.Leu773Pro) single nucleotide variant not provided [RCV003855864] Chr3:123318056 [GRCh38]
Chr3:123036903 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2279G>T (p.Arg760Leu) single nucleotide variant not provided [RCV003852364] Chr3:123318095 [GRCh38]
Chr3:123036942 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3657+19A>G single nucleotide variant not provided [RCV003726074] Chr3:123286666 [GRCh38]
Chr3:123005513 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.215G>T (p.Arg72Leu) single nucleotide variant Inborn genetic diseases [RCV004366872]|not provided [RCV003836670] Chr3:123448331 [GRCh38]
Chr3:123167178 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3043G>C (p.Asp1015His) single nucleotide variant not provided [RCV003700205] Chr3:123296104 [GRCh38]
Chr3:123014951 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.129C>T (p.Pro43=) single nucleotide variant not provided [RCV003671386] Chr3:123448417 [GRCh38]
Chr3:123167264 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1947+19G>A single nucleotide variant not provided [RCV003849605] Chr3:123327599 [GRCh38]
Chr3:123046446 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1947+18C>G single nucleotide variant not provided [RCV003835612] Chr3:123327600 [GRCh38]
Chr3:123046447 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.3645C>T (p.Pro1215=) single nucleotide variant ADCY5-related disorder [RCV004536863]|not provided [RCV003559427] Chr3:123286697 [GRCh38]
Chr3:123005544 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2661C>T (p.Asn887=) single nucleotide variant not provided [RCV003718039] Chr3:123303118 [GRCh38]
Chr3:123021965 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.3231C>T (p.Ile1077=) single nucleotide variant not provided [RCV003839086] Chr3:123291209 [GRCh38]
Chr3:123010056 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1197G>T (p.Pro399=) single nucleotide variant not provided [RCV003725295] Chr3:123352519 [GRCh38]
Chr3:123071366 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1125G>T (p.Leu375=) single nucleotide variant not provided [RCV003731484] Chr3:123447421 [GRCh38]
Chr3:123166268 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.3232G>A (p.Ala1078Thr) single nucleotide variant not provided [RCV003842124] Chr3:123291208 [GRCh38]
Chr3:123010055 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3333C>T (p.Ile1111=) single nucleotide variant not provided [RCV003731230] Chr3:123289949 [GRCh38]
Chr3:123008796 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.750G>A (p.Val250=) single nucleotide variant not provided [RCV003554301] Chr3:123447796 [GRCh38]
Chr3:123166643 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1659G>A (p.Glu553=) single nucleotide variant not provided [RCV003679347] Chr3:123328790 [GRCh38]
Chr3:123047637 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2481C>G (p.Ile827Met) single nucleotide variant not provided [RCV003681918] Chr3:123304145 [GRCh38]
Chr3:123022992 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.526G>C (p.Gly176Arg) single nucleotide variant Inborn genetic diseases [RCV004980999]|not provided [RCV003729889] Chr3:123448020 [GRCh38]
Chr3:123166867 [GRCh37]
Chr3:3q21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_183357.3(ADCY5):c.3141C>T (p.Asp1047=) single nucleotide variant not provided [RCV003554372] Chr3:123291299 [GRCh38]
Chr3:123010146 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.3082G>A (p.Glu1028Lys) single nucleotide variant not provided [RCV003568882] Chr3:123291358 [GRCh38]
Chr3:123010205 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1945C>T (p.Arg649Trp) single nucleotide variant not provided [RCV003861913] Chr3:123327620 [GRCh38]
Chr3:123046467 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2889C>T (p.Thr963=) single nucleotide variant not provided [RCV003555404] Chr3:123300131 [GRCh38]
Chr3:123018978 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1947+7G>T single nucleotide variant not provided [RCV003728776] Chr3:123327611 [GRCh38]
Chr3:123046458 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1285-17dup duplication not provided [RCV003864607] Chr3:123347919..123347920 [GRCh38]
Chr3:123066766..123066767 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.126_131del (p.Pro43_His44del) deletion not provided [RCV003728395] Chr3:123448415..123448420 [GRCh38]
Chr3:123167262..123167267 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3165C>T (p.Arg1055=) single nucleotide variant not provided [RCV003858018] Chr3:123291275 [GRCh38]
Chr3:123010122 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1389G>A (p.Gln463=) single nucleotide variant not provided [RCV003822517] Chr3:123347799 [GRCh38]
Chr3:123066646 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1930C>T (p.Arg644Cys) single nucleotide variant not provided [RCV003861390] Chr3:123327635 [GRCh38]
Chr3:123046482 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3126C>T (p.Asn1042=) single nucleotide variant not provided [RCV003853156] Chr3:123291314 [GRCh38]
Chr3:123010161 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2560-3C>T single nucleotide variant not provided [RCV003847292] Chr3:123303222 [GRCh38]
Chr3:123022069 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.646T>G (p.Phe216Val) single nucleotide variant not provided [RCV003719198] Chr3:123447900 [GRCh38]
Chr3:123166747 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3328-6A>C single nucleotide variant not provided [RCV003868991] Chr3:123289960 [GRCh38]
Chr3:123008807 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.3625A>G (p.Met1209Val) single nucleotide variant not provided [RCV003555093] Chr3:123286717 [GRCh38]
Chr3:123005564 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1400A>G (p.Asn467Ser) single nucleotide variant not provided [RCV003555094] Chr3:123347788 [GRCh38]
Chr3:123066635 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1313G>C (p.Arg438Pro) single nucleotide variant not provided [RCV003555095] Chr3:123347875 [GRCh38]
Chr3:123066722 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.808T>A (p.Tyr270Asn) single nucleotide variant Inborn genetic diseases [RCV004373990]|not provided [RCV003719875] Chr3:123447738 [GRCh38]
Chr3:123166585 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3409G>A (p.Asp1137Asn) single nucleotide variant not provided [RCV003722279] Chr3:123289873 [GRCh38]
Chr3:123008720 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2145A>C (p.Glu715Asp) single nucleotide variant not provided [RCV003684816] Chr3:123319785 [GRCh38]
Chr3:123038632 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2430C>T (p.Tyr810=) single nucleotide variant not provided [RCV003684874] Chr3:123314247 [GRCh38]
Chr3:123033094 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2559+15G>C single nucleotide variant not provided [RCV003868468] Chr3:123304052 [GRCh38]
Chr3:123022899 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1734G>A (p.Arg578=) single nucleotide variant not provided [RCV003726964] Chr3:123328715 [GRCh38]
Chr3:123047562 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1407-19T>A single nucleotide variant not provided [RCV003869501] Chr3:123332694 [GRCh38]
Chr3:123051541 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.439G>A (p.Gly147Ser) single nucleotide variant not provided [RCV003705327] Chr3:123448107 [GRCh38]
Chr3:123166954 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1373A>C (p.His458Pro) single nucleotide variant not provided [RCV003563839] Chr3:123347815 [GRCh38]
Chr3:123066662 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3399C>T (p.Ser1133=) single nucleotide variant not provided [RCV003733742] Chr3:123289883 [GRCh38]
Chr3:123008730 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1116C>A (p.Asp372Glu) single nucleotide variant not provided [RCV003683623] Chr3:123447430 [GRCh38]
Chr3:123166277 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3408C>T (p.Asn1136=) single nucleotide variant not provided [RCV003842808] Chr3:123289874 [GRCh38]
Chr3:123008721 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.130C>A (p.His44Asn) single nucleotide variant not provided [RCV003732130] Chr3:123448416 [GRCh38]
Chr3:123167263 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2560-19C>T single nucleotide variant not provided [RCV003823898] Chr3:123303238 [GRCh38]
Chr3:123022085 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2541G>A (p.Leu847=) single nucleotide variant not provided [RCV003712325] Chr3:123304085 [GRCh38]
Chr3:123022932 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.3338A>G (p.Glu1113Gly) single nucleotide variant not provided [RCV003731330] Chr3:123289944 [GRCh38]
Chr3:123008791 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2057G>A (p.Gly686Asp) single nucleotide variant Inborn genetic diseases [RCV004371187] Chr3:123325353 [GRCh38]
Chr3:123044200 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3717C>T (p.Gly1239=) single nucleotide variant Inborn genetic diseases [RCV004371261] Chr3:123284677 [GRCh38]
Chr3:123003524 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.818T>G (p.Val273Gly) single nucleotide variant not provided [RCV003993129] Chr3:123447728 [GRCh38]
Chr3:123166575 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2890G>A (p.Ala964Thr) single nucleotide variant Inborn genetic diseases [RCV004371220] Chr3:123300130 [GRCh38]
Chr3:123018977 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1883G>A (p.Arg628His) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV003994763] Chr3:123327682 [GRCh38]
Chr3:123046529 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2936A>C (p.Glu979Ala) single nucleotide variant Inborn genetic diseases [RCV004371226] Chr3:123296211 [GRCh38]
Chr3:123015058 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.140G>C (p.Gly47Ala) single nucleotide variant Inborn genetic diseases [RCV004371165] Chr3:123448406 [GRCh38]
Chr3:123167253 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.350G>A (p.Arg117Gln) single nucleotide variant Inborn genetic diseases [RCV004371257] Chr3:123448196 [GRCh38]
Chr3:123167043 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2861T>C (p.Leu954Pro) single nucleotide variant not provided [RCV004547054] Chr3:123300159 [GRCh38]
Chr3:123019006 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1014C>G (p.Thr338=) single nucleotide variant ADCY5-related disorder [RCV004542474] Chr3:123447532 [GRCh38]
Chr3:123166379 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.3783_*3del (p.Ter1262CysextTer?) deletion not provided [RCV003887394] Chr3:123284605..123284611 [GRCh38]
Chr3:123003452..123003458 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1768A>G (p.Thr590Ala) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV004545932] Chr3:123328681 [GRCh38]
Chr3:123047528 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1171A>G (p.Ile391Val) single nucleotide variant not provided [RCV004547088] Chr3:123352545 [GRCh38]
Chr3:123071392 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.959C>A (p.Pro320Gln) single nucleotide variant not provided [RCV004546137] Chr3:123447587 [GRCh38]
Chr3:123166434 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3764A>G (p.Asn1255Ser) single nucleotide variant Inborn genetic diseases [RCV004371265] Chr3:123284630 [GRCh38]
Chr3:123003477 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1285-6C>G single nucleotide variant not specified [RCV004527253] Chr3:123347909 [GRCh38]
Chr3:123066756 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2162G>C (p.Gly721Ala) single nucleotide variant Neurodevelopmental disorder with hyperkinetic movements and dyskinesia [RCV004556000] Chr3:123319768 [GRCh38]
Chr3:123038615 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3689C>T (p.Ala1230Val) single nucleotide variant Inborn genetic diseases [RCV004613359] Chr3:123284705 [GRCh38]
Chr3:123003552 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1000T>G (p.Phe334Val) single nucleotide variant Inborn genetic diseases [RCV004613322] Chr3:123447546 [GRCh38]
Chr3:123166393 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1406+72_1406+75dup duplication not specified [RCV004598472] Chr3:123347706..123347707 [GRCh38]
Chr3:123066553..123066554 [GRCh37]
Chr3:3q21.1		 benign
NC_000003.11:g.(?_123003455)_(123512688_?)dup duplication Aortic aneurysm, familial thoracic 7 [RCV004582198] Chr3:123003455..123512688 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1013C>G (p.Thr338Ser) single nucleotide variant not specified [RCV004702192] Chr3:123447533 [GRCh38]
Chr3:123166380 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2931-17C>T single nucleotide variant not specified [RCV004703027] Chr3:123296233 [GRCh38]
Chr3:123015080 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.3534G>A (p.Gly1178=) single nucleotide variant not specified [RCV004587668] Chr3:123286808 [GRCh38]
Chr3:123005655 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.262C>T (p.Pro88Ser) single nucleotide variant Inborn genetic diseases [RCV004613338] Chr3:123448284 [GRCh38]
Chr3:123167131 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3688G>A (p.Ala1230Thr) single nucleotide variant Inborn genetic diseases [RCV004613348] Chr3:123284706 [GRCh38]
Chr3:123003553 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2531T>C (p.Leu844Pro) single nucleotide variant not provided [RCV004598847] Chr3:123304095 [GRCh38]
Chr3:123022942 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1406+70_1406+71insTTCT insertion not specified [RCV004598455] Chr3:123347711..123347712 [GRCh38]
Chr3:123066558..123066559 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.1406+72_1406+73insCCTC insertion not specified [RCV004598461] Chr3:123347709..123347710 [GRCh38]
Chr3:123066556..123066557 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.74G>A (p.Gly25Asp) single nucleotide variant not provided [RCV004598866] Chr3:123448472 [GRCh38]
Chr3:123167319 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2902G>T (p.Asp968Tyr) single nucleotide variant not provided [RCV004779740] Chr3:123297381 [GRCh38]
Chr3:123016228 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3236A>G (p.Asn1079Ser) single nucleotide variant not provided [RCV004769491] Chr3:123291204 [GRCh38]
Chr3:123010051 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2506C>G (p.Leu836Val) single nucleotide variant not provided [RCV004759897]   uncertain significance
NM_183357.3(ADCY5):c.3190T>C (p.Tyr1064His) single nucleotide variant not provided [RCV004772475] Chr3:123291250 [GRCh38]
Chr3:123010097 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3260T>C (p.Leu1087Pro) single nucleotide variant not provided [RCV004762645]   uncertain significance
NM_183357.3(ADCY5):c.2173G>A (p.Asp725Asn) single nucleotide variant not provided [RCV004772358] Chr3:123319757 [GRCh38]
Chr3:123038604 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.32del (p.Gly11fs) deletion ADCY5-related disorder [RCV004727912] Chr3:123448514 [GRCh38]
Chr3:123167361 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_183357.3(ADCY5):c.1855G>C (p.Glu619Gln) single nucleotide variant not provided [RCV004761505]   uncertain significance
NM_183357.3(ADCY5):c.2714A>T (p.Asn905Ile) single nucleotide variant ADCY5-related disorder [RCV004730119] Chr3:123303065 [GRCh38]
Chr3:123021912 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1031C>T (p.Pro344Leu) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV005034925] Chr3:123447515 [GRCh38]
Chr3:123166362 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1008C>G (p.Ile336Met) single nucleotide variant Dyskinesia with orofacial involvement, autosomal dominant [RCV004821020] Chr3:123447538 [GRCh38]
Chr3:123166385 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.863G>C (p.Cys288Ser) single nucleotide variant Inborn genetic diseases [RCV004974114] Chr3:123447683 [GRCh38]
Chr3:123166530 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.520G>A (p.Glu174Lys) single nucleotide variant Inborn genetic diseases [RCV004967897] Chr3:123448026 [GRCh38]
Chr3:123166873 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3173G>A (p.Arg1058His) single nucleotide variant Inborn genetic diseases [RCV004967895] Chr3:123291267 [GRCh38]
Chr3:123010114 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2446T>G (p.Phe816Val) single nucleotide variant Inborn genetic diseases [RCV004967896] Chr3:123304180 [GRCh38]
Chr3:123023027 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.796C>T (p.Leu266Phe) single nucleotide variant Inborn genetic diseases [RCV004974112] Chr3:123447750 [GRCh38]
Chr3:123166597 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2434T>C (p.Cys812Arg) single nucleotide variant Inborn genetic diseases [RCV004974113] Chr3:123314243 [GRCh38]
Chr3:123033090 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.719G>C (p.Ser240Thr) single nucleotide variant Inborn genetic diseases [RCV004974118] Chr3:123447827 [GRCh38]
Chr3:123166674 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1947+5G>A single nucleotide variant not provided [RCV005145139] Chr3:123327613 [GRCh38]
Chr3:123046460 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.361G>A (p.Gly121Ser) single nucleotide variant not provided [RCV005060883] Chr3:123448185 [GRCh38]
Chr3:123167032 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.344G>A (p.Ser115Asn) single nucleotide variant not provided [RCV005067973] Chr3:123448202 [GRCh38]
Chr3:123167049 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.220C>T (p.Arg74Cys) single nucleotide variant not provided [RCV005170072] Chr3:123448326 [GRCh38]
Chr3:123167173 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.892A>G (p.Met298Val) single nucleotide variant not provided [RCV005064352] Chr3:123447654 [GRCh38]
Chr3:123166501 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2622C>T (p.Ser874=) single nucleotide variant not provided [RCV005066139] Chr3:123303157 [GRCh38]
Chr3:123022004 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2239C>T (p.Pro747Ser) single nucleotide variant not provided [RCV005065262] Chr3:123319691 [GRCh38]
Chr3:123038538 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2416G>A (p.Val806Met) single nucleotide variant not provided [RCV005062012] Chr3:123314261 [GRCh38]
Chr3:123033108 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.754G>C (p.Val252Leu) single nucleotide variant not provided [RCV005169053] Chr3:123447792 [GRCh38]
Chr3:123166639 [GRCh37]
Chr3:3q21.1		 conflicting interpretations of pathogenicity
NM_183357.3(ADCY5):c.2129C>G (p.Ala710Gly) single nucleotide variant not provided [RCV005067384] Chr3:123319801 [GRCh38]
Chr3:123038648 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1646+9C>T single nucleotide variant not provided [RCV005067150] Chr3:123330880 [GRCh38]
Chr3:123049727 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2539C>G (p.Leu847Val) single nucleotide variant not provided [RCV005066765] Chr3:123304087 [GRCh38]
Chr3:123022934 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.906C>T (p.Cys302=) single nucleotide variant not provided [RCV005186493] Chr3:123447640 [GRCh38]
Chr3:123166487 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.330C>G (p.Asp110Glu) single nucleotide variant not provided [RCV005114356] Chr3:123448216 [GRCh38]
Chr3:123167063 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.3524T>C (p.Met1175Thr) single nucleotide variant not provided [RCV005080469] Chr3:123289758 [GRCh38]
Chr3:123008605 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1251_1252delinsAA (p.Ala417_Arg418=) indel not provided [RCV005108842] Chr3:123352464..123352465 [GRCh38]
Chr3:123071311..123071312 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1747G>A (p.Asp583Asn) single nucleotide variant not provided [RCV005160219] Chr3:123328702 [GRCh38]
Chr3:123047549 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3064-3C>T single nucleotide variant not provided [RCV005155703] Chr3:123291379 [GRCh38]
Chr3:123010226 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.84C>G (p.His28Gln) single nucleotide variant not provided [RCV005167980] Chr3:123448462 [GRCh38]
Chr3:123167309 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1161C>T (p.Ser387=) single nucleotide variant not provided [RCV005200389] Chr3:123352555 [GRCh38]
Chr3:123071402 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1254_1255delinsAA (p.Leu419Ile) indel not provided [RCV005143609] Chr3:123352461..123352462 [GRCh38]
Chr3:123071308..123071309 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.1647-5C>T single nucleotide variant not provided [RCV005069788] Chr3:123328807 [GRCh38]
Chr3:123047654 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.327C>G (p.Asp109Glu) single nucleotide variant not provided [RCV005167284] Chr3:123448219 [GRCh38]
Chr3:123167066 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.531C>T (p.Ala177=) single nucleotide variant not provided [RCV005197719] Chr3:123448015 [GRCh38]
Chr3:123166862 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2274C>T (p.Asp758=) single nucleotide variant not provided [RCV005084555] Chr3:123318100 [GRCh38]
Chr3:123036947 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2133C>A (p.Asn711Lys) single nucleotide variant not provided [RCV005192084] Chr3:123319797 [GRCh38]
Chr3:123038644 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2467C>G (p.Leu823Val) single nucleotide variant not provided [RCV005193058] Chr3:123304159 [GRCh38]
Chr3:123023006 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.678G>A (p.Leu226=) single nucleotide variant not provided [RCV005190098] Chr3:123447868 [GRCh38]
Chr3:123166715 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.1251G>A (p.Ala417=) single nucleotide variant not provided [RCV005073015] Chr3:123352465 [GRCh38]
Chr3:123071312 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.191AGC[5] (p.Gln67_Arg68insGln) microsatellite not provided [RCV005187290] Chr3:123448343..123448344 [GRCh38]
Chr3:123167190..123167191 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2931-5C>T single nucleotide variant not provided [RCV005141008] Chr3:123296221 [GRCh38]
Chr3:123015068 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.139G>T (p.Gly47Trp) single nucleotide variant not provided [RCV005156186] Chr3:123448407 [GRCh38]
Chr3:123167254 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.252C>T (p.Ser84=) single nucleotide variant not provided [RCV005191580] Chr3:123448294 [GRCh38]
Chr3:123167141 [GRCh37]
Chr3:3q21.1		 likely benign
NM_183357.3(ADCY5):c.2509G>C (p.Val837Leu) single nucleotide variant not provided [RCV005187987] Chr3:123304117 [GRCh38]
Chr3:123022964 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.3628G>C (p.Asp1210His) single nucleotide variant not provided [RCV005114353] Chr3:123286714 [GRCh38]
Chr3:123005561 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.518T>A (p.Leu173Gln) single nucleotide variant not provided [RCV005069272] Chr3:123448028 [GRCh38]
Chr3:123166875 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.590C>T (p.Ala197Val) single nucleotide variant not provided [RCV005178366] Chr3:123447956 [GRCh38]
Chr3:123166803 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_183357.3(ADCY5):c.2640C>T (p.His880=) single nucleotide variant not provided [RCV005112925] Chr3:123303139 [GRCh38]
Chr3:123021986 [GRCh37]
Chr3:3q21.1		 benign
NM_183357.3(ADCY5):c.3170G>A (p.Arg1057Gln) single nucleotide variant not provided [RCV005068385] Chr3:123291270 [GRCh38]
Chr3:123010117 [GRCh37]
Chr3:3q21.1		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:4024
Count of miRNA genes:1136
Interacting mature miRNAs:1444
Transcripts:ENST00000309879, ENST00000462833, ENST00000466617, ENST00000468683, ENST00000470367, ENST00000474577, ENST00000476455, ENST00000478092, ENST00000483566, ENST00000491190
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
597110678GWAS1206752_Hchronotype measurement QTL GWAS1206752 (human)7e-09sleep behavior trait (VT:0001501)3123430969123430970Human
597184923GWAS1280997_Hbody mass index QTL GWAS1280997 (human)1e-11body mass indexbody mass index (BMI) (CMO:0000105)3123346931123346932Human
597184924GWAS1280998_Hbody mass index QTL GWAS1280998 (human)4e-16body mass indexbody mass index (BMI) (CMO:0000105)3123374694123374695Human
406919752GWAS568728_Hbirth weight QTL GWAS568728 (human)6e-24birth weightneonatal body weight (CMO:0002079)3123346931123346932Human
597587863GWAS1644723_Hdiabetes mellitus QTL GWAS1644723 (human)4e-20pancreas integrity trait (VT:0010560)3123350211123350212Human
597229457GWAS1325531_HHypermetropia, Myopia QTL GWAS1325531 (human)0.00001Hypermetropia, Myopia3123375040123375041Human
596952478GWAS1071997_Hsize QTL GWAS1071997 (human)6e-13size3123346931123346932Human
597074311GWAS1170385_Htype 2 diabetes mellitus QTL GWAS1170385 (human)5e-20type 2 diabetes mellitus3123346931123346932Human
597221772GWAS1317846_HHbA1c measurement QTL GWAS1317846 (human)2e-18HbA1c measurementblood total cholesterol level (CMO:0000051)3123349897123349898Human
597606280GWAS1663140_HHbA1c measurement QTL GWAS1663140 (human)7e-56HbA1c measurementblood hemoglobin A1c level (CMO:0002786)3123346931123346932Human
597248910GWAS1344984_Hglucose measurement QTL GWAS1344984 (human)2e-43glucose measurementblood glucose level (CMO:0000046)3123346931123346932Human
597292430GWAS1388504_Hlymphocyte count QTL GWAS1388504 (human)1e-14lymphocyte countblood lymphocyte count (CMO:0000031)3123386796123386797Human
597103502GWAS1199576_Hplatelet crit QTL GWAS1199576 (human)7e-23platelet quantity (VT:0003179)plateletcrit (CMO:0001349)3123386874123386875Human
597085623GWAS1181697_Hbody mass index QTL GWAS1181697 (human)5e-08body mass indexbody mass index (BMI) (CMO:0000105)3123334563123334564Human
597609404GWAS1666264_Hmonocyte count QTL GWAS1666264 (human)2e-12monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)3123386796123386797Human
597024689GWAS1120763_Htype 2 diabetes mellitus QTL GWAS1120763 (human)2e-10type 2 diabetes mellitus3123346931123346932Human
597242300GWAS1338374_HHbA1c measurement QTL GWAS1338374 (human)6e-12HbA1c measurementblood hemoglobin A1c level (CMO:0002786)3123316616123316617Human
406894186GWAS543162_Hbirth weight QTL GWAS543162 (human)7e-15birth weightneonatal body weight (CMO:0002079)3123377973123377974Human
597044646GWAS1140720_Hbody height at birth QTL GWAS1140720 (human)9e-20body height at birthbody height (CMO:0000106)3123346931123346932Human
597598639GWAS1655499_HHbA1c measurement QTL GWAS1655499 (human)4e-43HbA1c measurementblood hemoglobin A1c level (CMO:0002786)3123346931123346932Human
407113847GWAS762823_Htotal cholesterol measurement QTL GWAS762823 (human)2e-12blood glucose amount (VT:0000188)blood total cholesterol level (CMO:0000051)3123346931123346932Human
597064101GWAS1160175_Hbirth weight QTL GWAS1160175 (human)6e-27birth weightneonatal body weight (CMO:0002079)3123349897123349898Human
596963745GWAS1083264_Htype 2 diabetes mellitus QTL GWAS1083264 (human)2e-53type 2 diabetes mellitus3123346931123346932Human
597281711GWAS1377785_Hglucose measurement QTL GWAS1377785 (human)1e-12glucose measurementblood glucose level (CMO:0000046)3123377973123377974Human
597066158GWAS1162232_Htype 2 diabetes mellitus QTL GWAS1162232 (human)0.000003type 2 diabetes mellitus3123346931123346932Human
597196193GWAS1292267_Hsystolic blood pressure QTL GWAS1292267 (human)2e-09systolic blood pressuresystolic blood pressure (CMO:0000004)3123331091123331092Human
597044652GWAS1140726_Hbirth weight QTL GWAS1140726 (human)4e-25birth weightneonatal body weight (CMO:0002079)3123346931123346932Human
597579685GWAS1636545_Hdiabetes mellitus QTL GWAS1636545 (human)2e-39pancreas integrity trait (VT:0010560)3123346931123346932Human
597288868GWAS1384942_Hbody weight QTL GWAS1384942 (human)5e-11body mass (VT:0001259)body weight (CMO:0000012)3123378859123378860Human
597386150GWAS1482224_Hdisease progression measurement QTL GWAS1482224 (human)0.000005disease progression measurementdisease progression measurement (CMO:0001110)3123420187123420188Human
407114241GWAS763217_Htotal cholesterol measurement QTL GWAS763217 (human)0.000006total cholesterol measurementblood total cholesterol level (CMO:0000051)3123346931123346932Human
597024733GWAS1120807_Htype 2 diabetes mellitus QTL GWAS1120807 (human)0.0000004type 2 diabetes mellitus3123346931123346932Human
597599185GWAS1656045_HHbA1c measurement QTL GWAS1656045 (human)5e-40HbA1c measurementblood hemoglobin A1c level (CMO:0002786)3123346931123346932Human
597614033GWAS1670893_Hpotassium measurement QTL GWAS1670893 (human)8e-14potassium measurementblood potassium level (CMO:0000496)3123375040123375041Human
597300171GWAS1396245_Hbody mass index QTL GWAS1396245 (human)3e-09body mass indexbody mass index (BMI) (CMO:0000105)3123365532123365533Human
597284299GWAS1380373_Hglucose measurement QTL GWAS1380373 (human)8e-70glucose measurementblood glucose level (CMO:0000046)3123346931123346932Human
597237198GWAS1333272_Hmonocyte count QTL GWAS1333272 (human)1e-10monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)3123386272123386273Human
597605831GWAS1662691_HHbA1c measurement QTL GWAS1662691 (human)4e-55HbA1c measurementblood hemoglobin A1c level (CMO:0002786)3123346931123346932Human
597075401GWAS1171475_Htype 2 diabetes mellitus QTL GWAS1171475 (human)2e-17type 2 diabetes mellitus3123346931123346932Human
407156261GWAS805237_Htype 2 diabetes mellitus QTL GWAS805237 (human)5e-32type 2 diabetes mellitus3123346931123346932Human
597076466GWAS1172540_HHbA1c measurement QTL GWAS1172540 (human)1e-12alanine measurementblood amino acid measurement (CMO:0003730)3123346931123346932Human
597066227GWAS1162301_Hhigh density lipoprotein cholesterol measurement QTL GWAS1162301 (human)1e-09high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)3123351579123351580Human
597114354GWAS1210428_Hplatelet count QTL GWAS1210428 (human)2e-12platelet quantity (VT:0003179)platelet count (CMO:0000029)3123386874123386875Human
596956658GWAS1076177_HLDL cholesterol change measurement, response to antipsychotic drug QTL GWAS1076177 (human)0.000005LDL cholesterol change measurement, response to antipsychotic drug3123349896123349897Human
597264368GWAS1360442_Hhigh density lipoprotein cholesterol measurement QTL GWAS1360442 (human)8e-12high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)3123346931123346932Human
407224364GWAS873340_Hlymphocyte count QTL GWAS873340 (human)2e-10lymphocyte countblood lymphocyte count (CMO:0000031)3123386796123386797Human
597150182GWAS1246256_Hbody mass index QTL GWAS1246256 (human)5e-08body mass indexbody mass index (BMI) (CMO:0000105)3123354036123354037Human
407028785GWAS677761_HCCL2 measurement QTL GWAS677761 (human)0.000002CCL2 measurement3123284451123284452Human
597240301GWAS1336375_HC-reactive protein measurement QTL GWAS1336375 (human)4e-08C-reactive protein measurementblood C-reactive protein level (CMO:0003160)3123346931123346932Human
597344239GWAS1440313_Hglucose measurement QTL GWAS1440313 (human)2e-80glucose measurement3123346931123346932Human
597597159GWAS1654019_Hlymphocyte count QTL GWAS1654019 (human)9e-13lymphocyte countblood lymphocyte count (CMO:0000031)3123386796123386797Human
407061187GWAS710163_Hchronotype measurement QTL GWAS710163 (human)4e-08sleep behavior trait (VT:0001501)3123429515123429516Human
597240602GWAS1336676_Haspartate aminotransferase measurement, serum alanine aminotransferase measurement, low density lipoprotein triglyceride measurement, body fat percentage, high density lipoprotein cholesterol measurement, sex hormone-binding globulin measurement QTL GWAS1336676 (human)1e-13body fat mass (VT:0010482)blood high density lipoprotein cholesterol level (CMO:0000052)3123370987123370988Human
597613853GWAS1670713_Hpotassium measurement QTL GWAS1670713 (human)3e-15potassium measurementblood potassium level (CMO:0000496)3123375040123375041Human
597037840GWAS1133914_Hhigh density lipoprotein cholesterol measurement QTL GWAS1133914 (human)7e-09high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)3123331091123331092Human
407251649GWAS900625_Hlymphocyte count QTL GWAS900625 (human)4e-30lymphocyte countblood lymphocyte count (CMO:0000031)3123386272123386273Human
597158160GWAS1254234_Halanine measurement QTL GWAS1254234 (human)8e-10alanine measurementblood amino acid measurement (CMO:0003730)3123411099123411100Human
597219602GWAS1315676_Hglucose measurement QTL GWAS1315676 (human)0.0000001glucose measurementblood glucose level (CMO:0000046)3123346931123346932Human
597588756GWAS1645616_Hglucose measurement QTL GWAS1645616 (human)9e-76glucose measurementblood glucose level (CMO:0000046)3123349897123349898Human
597057816GWAS1153890_Htype 2 diabetes mellitus QTL GWAS1153890 (human)2e-15type 2 diabetes mellitus3123350211123350212Human
407037132GWAS686108_Hbody mass index QTL GWAS686108 (human)0.000008body mass indexbody mass index (BMI) (CMO:0000105)3123374694123374695Human
597589770GWAS1646630_Hdiabetic eye disease QTL GWAS1646630 (human)1e-13diabetic eye diseaseblood hemoglobin A1c level (CMO:0002786)3123346931123346932Human
597209356GWAS1305430_Hbirth weight, parental genotype effect measurement QTL GWAS1305430 (human)7e-17birth weight, parental genotype effect measurementneonatal body weight (CMO:0002079)3123406864123406865Human
597153038GWAS1249112_Hgestational diabetes QTL GWAS1249112 (human)5e-10gestational diabetes3123376465123376466Human
597255427GWAS1351501_Hbirth weight QTL GWAS1351501 (human)0.0000003birth weightneonatal body weight (CMO:0002079)3123381759123381760Human
597598978GWAS1655838_HHbA1c measurement QTL GWAS1655838 (human)5e-42HbA1c measurementblood hemoglobin A1c level (CMO:0002786)3123346931123346932Human
597096246GWAS1192320_Hsex hormone-binding globulin measurement QTL GWAS1192320 (human)0.0000007sex hormone-binding globulin measurement3123350211123350212Human
597262651GWAS1358725_Htype 2 diabetes mellitus QTL GWAS1358725 (human)2e-23type 2 diabetes mellitus3123380118123380119Human
597294399GWAS1390473_Htype 2 diabetes mellitus QTL GWAS1390473 (human)2e-53type 2 diabetes mellitus3123346931123346932Human
597579577GWAS1636437_Htype 2 diabetes mellitus QTL GWAS1636437 (human)3e-40type 2 diabetes mellitus3123346931123346932Human
597121343GWAS1217417_Hsmoking status measurement, chronic obstructive pulmonary disease QTL GWAS1217417 (human)7e-10lung integrity trait (VT:0010906)3123359232123359233Human
597589815GWAS1646675_Hdiabetic neuropathy QTL GWAS1646675 (human)2e-11diabetic neuropathy3123350211123350212Human
597168945GWAS1265019_HBMI-adjusted waist-hip ratio QTL GWAS1265019 (human)1e-08body size trait (VT:0100005)3123439305123439306Human
597585198GWAS1642058_Hdiabetes mellitus, Drugs used in diabetes use measurement QTL GWAS1642058 (human)9e-14pancreas integrity trait (VT:0010560)3123375040123375041Human
597269291GWAS1365365_Htype 2 diabetes mellitus QTL GWAS1365365 (human)0.000005type 2 diabetes mellitus3123346931123346932Human
597206827GWAS1302901_Hbirth weight QTL GWAS1302901 (human)2e-42birth weightneonatal body weight (CMO:0002079)3123346931123346932Human
597295913GWAS1391987_HBMI-adjusted fasting blood glucose measurement QTL GWAS1391987 (human)9e-09blood glucose amount (VT:0000188)3123346931123346932Human
597581613GWAS1638473_Hmonocyte count QTL GWAS1638473 (human)6e-31monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)3123386796123386797Human
597206828GWAS1302902_Hbirth weight QTL GWAS1302902 (human)2e-12birth weightneonatal body weight (CMO:0002079)3123406864123406865Human
597291808GWAS1387882_Hsize QTL GWAS1387882 (human)6e-13size3123346931123346932Human
597594912GWAS1651772_Hglucose measurement QTL GWAS1651772 (human)4e-31glucose measurementblood glucose level (CMO:0000046)3123346931123346932Human
597588316GWAS1645176_Hglucose measurement QTL GWAS1645176 (human)4e-54glucose measurementblood glucose level (CMO:0000046)3123349897123349898Human
597349726GWAS1445800_Hbody fat percentage QTL GWAS1445800 (human)2e-09body fat mass (VT:0010482)body fat percentage (CMO:0000302)3123370987123370988Human
597345628GWAS1441702_HLDL cholesterol change measurement, response to antipsychotic drug QTL GWAS1441702 (human)0.000005blood LDL cholesterol amount (VT:0000181)blood low density lipoprotein cholesterol level (CMO:0000053)3123349896123349897Human
597038941GWAS1135015_Hapolipoprotein A 1 measurement QTL GWAS1135015 (human)4e-09apolipoprotein A 1 measurementblood apolipoprotein AI level (CMO:0000520)3123332172123332173Human
597593938GWAS1650798_Hglucose measurement QTL GWAS1650798 (human)7e-36glucose measurementblood glucose level (CMO:0000046)3123346931123346932Human
597601618GWAS1658478_Hbody mass index QTL GWAS1658478 (human)3e-11body mass indexbody mass index (BMI) (CMO:0000105)3123351579123351580Human
597045082GWAS1141156_HAbnormality of refraction QTL GWAS1141156 (human)5e-08Abnormality of refraction3123374683123374684Human
406947476GWAS596452_HPR interval QTL GWAS596452 (human)0.0000002PR intervalPR interval (CMO:0000233)3123398318123398319Human
597603657GWAS1660517_Hmonocyte count QTL GWAS1660517 (human)5e-20monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)3123386796123386797Human
597024588GWAS1120662_Htype 2 diabetes mellitus QTL GWAS1120662 (human)6e-14type 2 diabetes mellitus3123363551123363552Human
597246275GWAS1342349_Hglucose measurement QTL GWAS1342349 (human)5e-09glucose measurementblood glucose level (CMO:0000046)3123346931123346932Human
597023055GWAS1119129_Hhigh density lipoprotein cholesterol measurement QTL GWAS1119129 (human)0.000002high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)3123351579123351580Human
597582148GWAS1639008_Hmonocyte count QTL GWAS1639008 (human)6e-20monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)3123386796123386797Human
597111625GWAS1207699_Hpulse pressure measurement QTL GWAS1207699 (human)6e-11pulse pressure measurementpulse pressure (CMO:0000292)3123331091123331092Human
597270854GWAS1366928_Htype 2 diabetes mellitus QTL GWAS1366928 (human)2e-41type 2 diabetes mellitus3123346931123346932Human
597123446GWAS1219520_Hchronic obstructive pulmonary disease QTL GWAS1219520 (human)7e-09lung integrity trait (VT:0010906)3123359232123359233Human
597105010GWAS1201084_Hplatelet component distribution width QTL GWAS1201084 (human)2e-16platelet size trait (VT:0010457)platelet distribution width (CMO:0001350)3123372188123372189Human
406975140GWAS624116_Hpolychlorinated biphenyls measurement QTL GWAS624116 (human)0.0000004polychlorinated biphenyls measurement3123418715123418716Human
597089148GWAS1185222_Hmonocyte percentage of leukocytes QTL GWAS1185222 (human)7e-11monocyte quantity (VT:0000223)blood monocyte count to total leukocyte count ratio (CMO:0000374)3123386272123386273Human
597590386GWAS1647246_Hdiabetic retinopathy QTL GWAS1647246 (human)4e-16diabetic retinopathy3123350211123350212Human
406990003GWAS638979_HBMI-adjusted waist circumference QTL GWAS638979 (human)2e-10body size trait (VT:0100005)3123408259123408260Human
597021543GWAS1117617_Htype 2 diabetes mellitus QTL GWAS1117617 (human)0.000005type 2 diabetes mellitus3123363551123363552Human
597266797GWAS1362871_HBMI-adjusted waist circumference QTL GWAS1362871 (human)5e-09body size trait (VT:0100005)3123333171123333172Human
597266798GWAS1362872_HBMI-adjusted waist circumference QTL GWAS1362872 (human)8e-11body size trait (VT:0100005)3123399852123399853Human
597085039GWAS1181113_Htype 2 diabetes mellitus QTL GWAS1181113 (human)2e-11type 2 diabetes mellitus3123346931123346932Human
597327203GWAS1423277_Hbody mass index QTL GWAS1423277 (human)8e-09body mass indexbody mass index (BMI) (CMO:0000105)3123370987123370988Human
597219171GWAS1315245_Hinsulin measurement QTL GWAS1315245 (human)1e-09high density lipoprotein cholesterol measurementblood amino acid measurement (CMO:0003730)3123346931123346932Human
596955496GWAS1075015_Hlymphocyte measurement, neutrophil measurement QTL GWAS1075015 (human)2e-11lymphocyte measurement, neutrophil measurement3123349973123349974Human
597033323GWAS1129397_Hheel bone mineral density QTL GWAS1129397 (human)1e-10heel bone mineral densitybone mineral density (CMO:0001226)3123349897123349898Human
597102953GWAS1199027_Hneutrophil percentage of leukocytes QTL GWAS1199027 (human)5e-17neutrophil quantity (VT:0000222)blood neutrophil count to total leukocyte count ratio (CMO:0000370)3123349973123349974Human
407220036GWAS869012_Hlymphocyte count QTL GWAS869012 (human)5e-27lymphocyte countblood lymphocyte count (CMO:0000031)3123386272123386273Human
597596317GWAS1653177_Hdiabetes mellitus, family history QTL GWAS1653177 (human)1e-11pancreas integrity trait (VT:0010560)3123351579123351580Human
407040839GWAS689815_Hbody mass index QTL GWAS689815 (human)0.000006body mass indexbody mass index (BMI) (CMO:0000105)3123374694123374695Human
597092497GWAS1188571_Htype 2 diabetes mellitus QTL GWAS1188571 (human)0.000007type 2 diabetes mellitus3123421016123421017Human
597323415GWAS1419489_HHOMA-B QTL GWAS1419489 (human)0.000006HOMA-BHomeostatic Model Assessment of Beta cell function (CMO:0003211)3123349970123349971Human
597046407GWAS1142481_Herythrocyte count QTL GWAS1142481 (human)1e-08erythrocyte countred blood cell count (CMO:0000025)3123365694123365695Human
597594253GWAS1651113_Hglucose measurement QTL GWAS1651113 (human)1e-28glucose measurementblood glucose level (CMO:0000046)3123350211123350212Human
597027983GWAS1124057_Hwaist-hip ratio QTL GWAS1124057 (human)0.0000002waist-hip ratiowaist to hip ratio (WHR) (CMO:0000020)3123440099123440100Human
597138570GWAS1234644_Hpulse pressure measurement QTL GWAS1234644 (human)4e-13pulse pressure measurementpulse pressure (CMO:0000292)3123331091123331092Human
597610687GWAS1667547_Hmonocyte count QTL GWAS1667547 (human)4e-12monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)3123386796123386797Human
597349053GWAS1445127_Hbody fat percentage QTL GWAS1445127 (human)2e-11body fat mass (VT:0010482)body fat percentage (CMO:0000302)3123343810123343811Human
597158079GWAS1254153_Hsex hormone-binding globulin measurement QTL GWAS1254153 (human)3e-08sex hormone-binding globulin measurement3123350211123350212Human
597123769GWAS1219843_Hsmoking status measurement, chronic obstructive pulmonary disease QTL GWAS1219843 (human)5e-09lung integrity trait (VT:0010906)3123359232123359233Human
597248694GWAS1344768_Hglucose tolerance test QTL GWAS1344768 (human)2e-22glucose tolerance test3123346931123346932Human
407039348GWAS688324_Hbirth weight QTL GWAS688324 (human)6e-20birth weightneonatal body weight (CMO:0002079)3123377973123377974Human
407146364GWAS795340_Htype 2 diabetes mellitus QTL GWAS795340 (human)6e-08type 2 diabetes mellitus3123346931123346932Human
597602469GWAS1659329_Htype 2 diabetes mellitus QTL GWAS1659329 (human)3e-09type 2 diabetes mellitus3123300116123300117Human
597209255GWAS1305329_Hbody mass index, type 2 diabetes mellitus QTL GWAS1305329 (human)5e-12body mass index, type 2 diabetes mellitusbody mass index (BMI) (CMO:0000105)3123346931123346932Human
597344933GWAS1441007_Hglucose measurement QTL GWAS1441007 (human)2e-78glucose measurementblood glucose level (CMO:0000046)3123346931123346932Human
597081814GWAS1177888_Hlymphocyte percentage of leukocytes QTL GWAS1177888 (human)5e-12lymphocyte quantity (VT:0000717)blood lymphocyte count to total leukocyte count ratio (CMO:0000371)3123349973123349974Human
597240027GWAS1336101_HHbA1c measurement QTL GWAS1336101 (human)8e-19HbA1c measurementblood hemoglobin A1c level (CMO:0002786)3123335508123335509Human
597161173GWAS1257247_Hglucose measurement QTL GWAS1257247 (human)1e-19glucose measurementblood glucose level (CMO:0000046)3123350211123350212Human
597588690GWAS1645550_Hglucose measurement QTL GWAS1645550 (human)1e-29glucose measurementblood glucose level (CMO:0000046)3123350211123350212Human
597107931GWAS1204005_HDrugs used in diabetes use measurement QTL GWAS1204005 (human)3e-12Drugs used in diabetes use measurement3123350211123350212Human
597085915GWAS1181989_Hlymphocyte count QTL GWAS1181989 (human)6e-23lymphocyte countblood lymphocyte count (CMO:0000031)3123386796123386797Human
597206230GWAS1302304_Htype 2 diabetes mellitus QTL GWAS1302304 (human)6e-29type 2 diabetes mellitus3123346931123346932Human
597192407GWAS1288481_Hgestational age QTL GWAS1288481 (human)3e-12gestational age3123393445123393446Human
597088454GWAS1184528_Htype 2 diabetes mellitus QTL GWAS1184528 (human)2e-46type 2 diabetes mellitus3123346931123346932Human
597602509GWAS1659369_Htype 2 diabetes mellitus QTL GWAS1659369 (human)2e-92type 2 diabetes mellitus3123346931123346932Human
597220045GWAS1316119_Hglucose measurement QTL GWAS1316119 (human)1e-08type 2 diabetes mellitusblood glucose level (CMO:0000046)3123346931123346932Human
597278919GWAS1374993_Htype 2 diabetes mellitus, COVID-19 QTL GWAS1374993 (human)1e-10type 2 diabetes mellitus, COVID-193123376465123376466Human
597160648GWAS1256722_Hfetal genotype effect measurement QTL GWAS1256722 (human)9e-14fetal genotype effect measurement3123346931123346932Human
597031114GWAS1127188_HBMI-adjusted waist-hip ratio QTL GWAS1127188 (human)2e-08body size trait (VT:0100005)3123402439123402440Human
597238521GWAS1334595_Htype 2 diabetes mellitus QTL GWAS1334595 (human)5e-10type 2 diabetes mellitus3123375604123375605Human
597268730GWAS1364804_Htype 2 diabetes mellitus QTL GWAS1364804 (human)5e-30type 2 diabetes mellitus3123346931123346932Human
597238525GWAS1334599_Htype 2 diabetes mellitus QTL GWAS1334599 (human)5e-09type 2 diabetes mellitus3123363551123363552Human
597242109GWAS1338183_Hbody fat percentage QTL GWAS1338183 (human)1e-15body fat mass (VT:0010482)body fat percentage (CMO:0000302)3123370987123370988Human
407229741GWAS878717_Htype 2 diabetes mellitus QTL GWAS878717 (human)2e-08type 2 diabetes mellitus3123363551123363552Human
597279476GWAS1375550_Hhemoglobin A1 measurement QTL GWAS1375550 (human)1e-85hemoglobin A1 measurement3123346931123346932Human
597593843GWAS1650703_Hpotassium measurement QTL GWAS1650703 (human)1e-17potassium measurementblood potassium level (CMO:0000496)3123375040123375041Human
597245161GWAS1341235_Hglucose measurement QTL GWAS1341235 (human)1e-13glucose measurementblood glucose level (CMO:0000046)3123335508123335509Human
407020856GWAS669832_Hglucose tolerance test QTL GWAS669832 (human)7e-16glucose tolerance test3123375604123375605Human
597213412GWAS1309486_Hmathematical ability QTL GWAS1309486 (human)4e-08mathematical ability3123440099123440100Human
597601507GWAS1658367_Hbody mass index QTL GWAS1658367 (human)2e-12body mass indexbody mass index (BMI) (CMO:0000105)3123328631123328632Human
596989160GWAS1108679_Hbody mass index QTL GWAS1108679 (human)3e-09body mass index3123365532123365533Human
597238296GWAS1334370_Htype 2 diabetes mellitus QTL GWAS1334370 (human)1e-09type 2 diabetes mellitus3123375604123375605Human
597163540GWAS1259614_Htype 2 diabetes mellitus QTL GWAS1259614 (human)4e-22type 2 diabetes mellitus3123335923123335924Human
597590557GWAS1647417_Hdiabetes mellitus QTL GWAS1647417 (human)2e-29pancreas integrity trait (VT:0010560)3123346931123346932Human
597082642GWAS1178716_Hmonocyte count QTL GWAS1178716 (human)1e-28monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)3123386874123386875Human
597584923GWAS1641783_Hdiabetes mellitus QTL GWAS1641783 (human)1e-19pancreas integrity trait (VT:0010560)3123346931123346932Human
597238291GWAS1334365_Htype 2 diabetes mellitus QTL GWAS1334365 (human)2e-09type 2 diabetes mellitus3123363551123363552Human
597594643GWAS1651503_Hglucose measurement QTL GWAS1651503 (human)4e-88glucose measurementblood glucose level (CMO:0000046)3123349897123349898Human
597600785GWAS1657645_Hbody mass index QTL GWAS1657645 (human)3e-11body mass indexbody mass index (BMI) (CMO:0000105)3123328631123328632Human
597578766GWAS1635626_Hhematocrit QTL GWAS1635626 (human)7e-12hematocrithematocrit (CMO:0000037)3123374683123374684Human
597609487GWAS1666347_Hmonocyte count QTL GWAS1666347 (human)4e-16monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)3123386796123386797Human
597099013GWAS1195087_Hmonocyte count QTL GWAS1195087 (human)3e-30monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)3123386874123386875Human
597120004GWAS1216078_Hchronic obstructive pulmonary disease QTL GWAS1216078 (human)8e-09lung integrity trait (VT:0010906)3123359232123359233Human
597285388GWAS1381462_HC-reactive protein measurement QTL GWAS1381462 (human)6e-09C-reactive protein measurementblood C-reactive protein level (CMO:0003160)3123346931123346932Human
597177859GWAS1273933_Hprotein disulfide-isomerase A5 measurement QTL GWAS1273933 (human)0.000002protein disulfide-isomerase A5 measurement3123385792123385793Human
597146634GWAS1242708_Hdiabetes mellitus QTL GWAS1242708 (human)2e-09pancreas integrity trait (VT:0010560)3123335923123335924Human
597088267GWAS1184341_Hmonocyte count QTL GWAS1184341 (human)4e-22monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)3123386272123386273Human
597590017GWAS1646877_Htype 2 diabetes mellitus QTL GWAS1646877 (human)4e-29type 2 diabetes mellitus3123346931123346932Human
597601793GWAS1658653_Hmonocyte count QTL GWAS1658653 (human)3e-14monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)3123386796123386797Human
597588029GWAS1644889_Htype 2 diabetes mellitus QTL GWAS1644889 (human)7e-20type 2 diabetes mellitus3123350211123350212Human
597106225GWAS1202299_Hsex hormone-binding globulin measurement QTL GWAS1202299 (human)5e-11sex hormone-binding globulin measurement3123350211123350212Human
597087281GWAS1183355_HPR interval QTL GWAS1183355 (human)3e-09PR intervalPR interval (CMO:0000233)3123398318123398319Human
597179957GWAS1276031_Hglucose measurement QTL GWAS1276031 (human)4e-15glucose measurementblood glucose level (CMO:0000046)3123351579123351580Human
597158968GWAS1255042_Hsex hormone-binding globulin measurement QTL GWAS1255042 (human)0.0000004sex hormone-binding globulin measurement3123350211123350212Human
597212200GWAS1308274_Hbody fat percentage, type 2 diabetes mellitus QTL GWAS1308274 (human)2e-14body fat mass (VT:0010482)body fat percentage (CMO:0000302)3123346931123346932Human
596966948GWAS1086467_HHOMA-B QTL GWAS1086467 (human)0.000006HOMA-B3123349970123349971Human
597292073GWAS1388147_Hlymphocyte measurement, neutrophil measurement QTL GWAS1388147 (human)2e-11lymphocyte measurement, neutrophil measurement3123349973123349974Human
597070895GWAS1166969_Hgestational age, parental genotype effect measurement QTL GWAS1166969 (human)4e-08gestational age, parental genotype effect measurement3123349512123349513Human
597124142GWAS1220216_Hchronic obstructive pulmonary disease QTL GWAS1220216 (human)0.000006lung integrity trait (VT:0010906)3123359232123359233Human
406985215GWAS634191_Hheel bone mineral density QTL GWAS634191 (human)3e-08heel bone mineral densitybone mineral density (CMO:0001226)3123349897123349898Human
597244967GWAS1341041_Hglucose measurement QTL GWAS1341041 (human)1e-09glucose measurementblood glucose level (CMO:0000046)3123377209123377210Human
597142057GWAS1238131_HHbA1c measurement QTL GWAS1238131 (human)5e-09HbA1c measurementblood hemoglobin A1c level (CMO:0002786)3123432915123432916Human
597115944GWAS1212018_Htotal cholesterol measurement, triglyceride measurement, low density lipoprotein cholesterol measurement, high density lipoprotein cholesterol measurement QTL GWAS1212018 (human)4e-08total cholesterol measurement, triglyceride measurement, low density lipoprotein cholesterol measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)3123359232123359233Human
597606488GWAS1663348_HHbA1c measurement QTL GWAS1663348 (human)5e-48HbA1c measurementblood hemoglobin A1c level (CMO:0002786)3123346931123346932Human
597593686GWAS1650546_Hpotassium measurement QTL GWAS1650546 (human)4e-21potassium measurementblood potassium level (CMO:0000496)3123375040123375041Human
597065821GWAS1161895_Htotal cholesterol measurement QTL GWAS1161895 (human)2e-08total cholesterol measurementblood total cholesterol level (CMO:0000051)3123351579123351580Human
407055757GWAS704733_Hchronic obstructive pulmonary disease QTL GWAS704733 (human)4e-10lung integrity trait (VT:0010906)3123358195123358196Human
407019922GWAS668898_HHOMA-B QTL GWAS668898 (human)3e-12HOMA-BHomeostatic Model Assessment of Beta cell function (CMO:0003211)3123346931123346932Human
597607496GWAS1664356_Hbody weight QTL GWAS1664356 (human)5e-15body mass (VT:0001259)body weight (CMO:0000012)3123328631123328632Human
597255759GWAS1351833_Htype 2 diabetes mellitus QTL GWAS1351833 (human)0.000008type 2 diabetes mellitus3123346931123346932Human
597303373GWAS1399447_Hmonocyte count QTL GWAS1399447 (human)2e-19monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)3123386796123386797Human
597610055GWAS1666915_Hmonocyte count QTL GWAS1666915 (human)5e-12monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)3123386796123386797Human
597042763GWAS1138837_HC-reactive protein measurement QTL GWAS1138837 (human)2e-09C-reactive protein measurementblood C-reactive protein level (CMO:0003160)3123346931123346932Human
597322820GWAS1418894_Hbody mass index QTL GWAS1418894 (human)3e-09body mass indexbody mass index (BMI) (CMO:0000105)3123412407123412408Human
597025395GWAS1121469_Hbody mass index QTL GWAS1121469 (human)3e-09body mass indexbody mass index (BMI) (CMO:0000105)3123370987123370988Human
597289087GWAS1385161_Halanine measurement QTL GWAS1385161 (human)6e-21alanine measurementblood amino acid measurement (CMO:0003730)3123374683123374684Human
597170291GWAS1266365_Htyrosine measurement QTL GWAS1266365 (human)3e-10tyrosine measurement3123370823123370824Human
597087867GWAS1183941_Htype 2 diabetes mellitus QTL GWAS1183941 (human)2e-57type 2 diabetes mellitus3123346931123346932Human
597225077GWAS1321151_Hheel bone mineral density QTL GWAS1321151 (human)5e-11heel bone mineral densitybone mineral density (CMO:0001226)3123349897123349898Human
597613168GWAS1670028_Hfamily history of cancer QTL GWAS1670028 (human)3e-12family history of cancer3123319169123319170Human
597104761GWAS1200835_Hpost-traumatic stress disorder symptom measurement QTL GWAS1200835 (human)0.000006post-traumatic stress disorder symptom measurement3123379395123379396Human
596986977GWAS1106496_Hfasting blood glucose measurement QTL GWAS1106496 (human)7e-10fasting blood glucose measurement3123349897123349898Human
597266017GWAS1362091_Hlow density lipoprotein cholesterol measurement QTL GWAS1362091 (human)2e-09low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)3123349897123349898Human
597240928GWAS1337002_Hpolycystic ovary syndrome, type 2 diabetes mellitus QTL GWAS1337002 (human)1e-08polycystic ovary syndrome, type 2 diabetes mellitus3123300916123300917Human
597162094GWAS1258168_Hfetal genotype effect measurement QTL GWAS1258168 (human)2e-16fetal genotype effect measurement3123346931123346932Human
597144171GWAS1240245_HDrugs used in diabetes use measurement QTL GWAS1240245 (human)6e-15Drugs used in diabetes use measurement3123350211123350212Human

Markers in Region
D3S1267  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373123,043,211 - 123,043,369UniSTSGRCh37
GRCh373123,043,229 - 123,043,337UniSTSGRCh37
GRCh373123,043,231 - 123,043,359UniSTSGRCh37
Build 363124,525,901 - 124,526,059RGDNCBI36
Celera3121,450,411 - 121,450,498UniSTS
Celera3121,450,393 - 121,450,530RGD
Celera3121,450,413 - 121,450,520UniSTS
Cytogenetic Map3q21.1UniSTS
HuRef3120,416,370 - 120,416,452UniSTS
HuRef3120,416,372 - 120,416,474UniSTS
HuRef3120,416,352 - 120,416,484UniSTS
Marshfield Genetic Map3139.12RGD
Genethon Genetic Map3141.1UniSTS
TNG Radiation Hybrid Map368830.0UniSTS
Stanford-G3 RH Map35573.0UniSTS
GeneMap99-GB4 RH Map3435.39UniSTS
Whitehead-YAC Contig Map3 UniSTS
GeneMap99-G3 RH Map36043.0UniSTS
RH91460  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373123,001,356 - 123,001,488UniSTSGRCh37
Build 363124,484,046 - 124,484,178RGDNCBI36
Celera3121,408,449 - 121,408,581RGD
Cytogenetic Map3q21.1UniSTS
HuRef3120,374,563 - 120,374,695UniSTS
GeneMap99-GB4 RH Map3435.39UniSTS
D3S1672  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373123,064,555 - 123,064,727UniSTSGRCh37
Build 363124,547,245 - 124,547,417RGDNCBI36
Celera3121,471,761 - 121,471,931RGD
Cytogenetic Map3q21.1UniSTS
HuRef3120,437,659 - 120,437,829UniSTS
SHGC-145592  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373123,019,742 - 123,020,081UniSTSGRCh37
Build 363124,502,432 - 124,502,771RGDNCBI36
Celera3121,426,844 - 121,427,183RGD
Cytogenetic Map3q21.1UniSTS
HuRef3120,392,957 - 120,393,296UniSTS
TNG Radiation Hybrid Map368859.0UniSTS
SHGC-148276  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373123,020,062 - 123,020,366UniSTSGRCh37
Build 363124,502,752 - 124,503,056RGDNCBI36
Celera3121,427,164 - 121,427,468RGD
Cytogenetic Map3q21.1UniSTS
HuRef3120,393,277 - 120,393,581UniSTS
TNG Radiation Hybrid Map368814.0UniSTS
SHGC-148807  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373123,039,196 - 123,039,546UniSTSGRCh37
Build 363124,521,886 - 124,522,236RGDNCBI36
Celera3121,446,378 - 121,446,728RGD
Cytogenetic Map3q21.1UniSTS
HuRef3120,412,337 - 120,412,687UniSTS
TNG Radiation Hybrid Map368830.0UniSTS
SHGC-149509  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373123,022,364 - 123,022,701UniSTSGRCh37
Build 363124,505,054 - 124,505,391RGDNCBI36
Celera3121,429,466 - 121,429,803RGD
Cytogenetic Map3q21.1UniSTS
TNG Radiation Hybrid Map368814.0UniSTS
D3S2896E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373123,001,373 - 123,001,464UniSTSGRCh37
Build 363124,484,063 - 124,484,154RGDNCBI36
Celera3121,408,466 - 121,408,557RGD
Cytogenetic Map3q21.1UniSTS
HuRef3120,374,580 - 120,374,671UniSTS
GeneMap99-GB4 RH Map3432.56UniSTS
NCBI RH Map31060.8UniSTS
D3S1267  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3q21.1UniSTS
Marshfield Genetic Map3139.12UniSTS
Genethon Genetic Map3141.1UniSTS
Whitehead-YAC Contig Map3 UniSTS
D3S1267  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3q21.1UniSTS
TNG Radiation Hybrid Map368830.0UniSTS
Stanford-G3 RH Map35573.0UniSTS
GeneMap99-GB4 RH Map3435.39UniSTS
GeneMap99-G3 RH Map36043.0UniSTS


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 2403 2788 2238 4948 1716 2315 6 621 1722 461 2252 7053 6253 41 3725 1 843 1728 1585 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001199642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_183357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005247078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006713483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006713484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC025571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC112503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF497517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BK000371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U65473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000309879   ⟹   ENSP00000308685
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,284,578 - 123,416,342 (-)Ensembl
Ensembl Acc Id: ENST00000462833   ⟹   ENSP00000419361
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,282,296 - 123,449,090 (-)Ensembl
Ensembl Acc Id: ENST00000466617   ⟹   ENSP00000420082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,282,320 - 123,404,561 (-)Ensembl
Ensembl Acc Id: ENST00000468683
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,300,251 - 123,318,152 (-)Ensembl
Ensembl Acc Id: ENST00000470367
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,283,959 - 123,419,224 (-)Ensembl
Ensembl Acc Id: ENST00000474577
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,297,257 - 123,304,079 (-)Ensembl
Ensembl Acc Id: ENST00000476455   ⟹   ENSP00000417789
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,332,595 - 123,404,283 (-)Ensembl
Ensembl Acc Id: ENST00000478092
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,284,446 - 123,287,111 (-)Ensembl
Ensembl Acc Id: ENST00000483566   ⟹   ENSP00000420252
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,282,398 - 123,420,274 (-)Ensembl
Ensembl Acc Id: ENST00000491190   ⟹   ENSP00000418537
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,283,944 - 123,419,209 (-)Ensembl
Ensembl Acc Id: ENST00000699714   ⟹   ENSP00000514539
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,282,310 - 123,413,199 (-)Ensembl
Ensembl Acc Id: ENST00000699715   ⟹   ENSP00000514540
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,282,346 - 123,413,137 (-)Ensembl
Ensembl Acc Id: ENST00000699716   ⟹   ENSP00000514542
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,283,968 - 123,431,876 (-)Ensembl
Ensembl Acc Id: ENST00000699717
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,283,985 - 123,318,997 (-)Ensembl
Ensembl Acc Id: ENST00000699718   ⟹   ENSP00000514543
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,284,311 - 123,448,545 (-)Ensembl
Ensembl Acc Id: ENST00000699719
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3123,300,197 - 123,328,707 (-)Ensembl
RefSeq Acc Id: NM_001199642   ⟹   NP_001186571
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,282,296 - 123,416,342 (-)NCBI
GRCh373123,001,143 - 123,167,924 (-)NCBI
HuRef3120,374,350 - 120,540,687 (-)ENTREZGENE
CHM1_13122,964,827 - 123,098,868 (-)NCBI
T2T-CHM13v2.03126,002,377 - 126,136,892 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001378259   ⟹   NP_001365188
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,282,296 - 123,449,090 (-)NCBI
T2T-CHM13v2.03126,002,377 - 126,169,667 (-)NCBI
Sequence:
RefSeq Acc Id: NM_183357   ⟹   NP_899200
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,282,296 - 123,449,090 (-)NCBI
GRCh373123,001,143 - 123,167,924 (-)NCBI
Build 363124,486,089 - 124,650,082 (-)NCBI Archive
HuRef3120,374,350 - 120,540,687 (-)ENTREZGENE
CHM1_13122,964,827 - 123,131,019 (-)NCBI
T2T-CHM13v2.03126,002,377 - 126,169,667 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005247078   ⟹   XP_005247135
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,282,296 - 123,416,342 (-)NCBI
GRCh373123,001,143 - 123,167,924 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006713483   ⟹   XP_006713546
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,282,296 - 123,368,060 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006713484   ⟹   XP_006713547
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,282,296 - 123,413,292 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011512359   ⟹   XP_011510661
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,282,296 - 123,425,672 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011512360   ⟹   XP_011510662
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,282,296 - 123,355,143 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011512361   ⟹   XP_011510663
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,282,296 - 123,404,580 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017005638   ⟹   XP_016861127
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,282,296 - 123,390,391 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017005639   ⟹   XP_016861128
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,282,296 - 123,390,845 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047447359   ⟹   XP_047303315
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,282,296 - 123,425,670 (-)NCBI
RefSeq Acc Id: XM_047447360   ⟹   XP_047303316
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,282,296 - 123,355,138 (-)NCBI
RefSeq Acc Id: XM_047447361   ⟹   XP_047303317
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,282,296 - 123,390,885 (-)NCBI
RefSeq Acc Id: XM_047447362   ⟹   XP_047303318
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,282,296 - 123,368,060 (-)NCBI
RefSeq Acc Id: XM_047447363   ⟹   XP_047303319
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,282,296 - 123,367,917 (-)NCBI
RefSeq Acc Id: XM_047447364   ⟹   XP_047303320
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,282,296 - 123,401,962 (-)NCBI
RefSeq Acc Id: XM_047447365   ⟹   XP_047303321
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,282,296 - 123,335,233 (-)NCBI
RefSeq Acc Id: XM_054345059   ⟹   XP_054201034
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,002,377 - 126,146,223 (-)NCBI
RefSeq Acc Id: XM_054345060   ⟹   XP_054201035
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,002,377 - 126,110,494 (-)NCBI
RefSeq Acc Id: XM_054345061   ⟹   XP_054201036
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,002,377 - 126,136,892 (-)NCBI
RefSeq Acc Id: XM_054345062   ⟹   XP_054201037
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,002,377 - 126,146,221 (-)NCBI
RefSeq Acc Id: XM_054345063   ⟹   XP_054201038
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,002,377 - 126,075,260 (-)NCBI
RefSeq Acc Id: XM_054345064   ⟹   XP_054201039
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,002,377 - 126,110,948 (-)NCBI
RefSeq Acc Id: XM_054345065   ⟹   XP_054201040
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,002,377 - 126,088,162 (-)NCBI
RefSeq Acc Id: XM_054345066   ⟹   XP_054201041
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,002,377 - 126,075,255 (-)NCBI
RefSeq Acc Id: XM_054345067   ⟹   XP_054201042
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,002,377 - 126,110,988 (-)NCBI
RefSeq Acc Id: XM_054345068   ⟹   XP_054201043
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,002,377 - 126,088,162 (-)NCBI
RefSeq Acc Id: XM_054345069   ⟹   XP_054201044
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,002,377 - 126,133,842 (-)NCBI
RefSeq Acc Id: XM_054345070   ⟹   XP_054201045
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,002,377 - 126,125,303 (-)NCBI
RefSeq Acc Id: XM_054345071   ⟹   XP_054201046
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,002,377 - 126,088,019 (-)NCBI
RefSeq Acc Id: XM_054345072   ⟹   XP_054201047
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,002,377 - 126,122,202 (-)NCBI
RefSeq Acc Id: XM_054345073   ⟹   XP_054201048
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03126,002,377 - 126,055,619 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001186571 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365188 (Get FASTA)   NCBI Sequence Viewer  
  NP_899200 (Get FASTA)   NCBI Sequence Viewer  
  XP_005247135 (Get FASTA)   NCBI Sequence Viewer  
  XP_006713546 (Get FASTA)   NCBI Sequence Viewer  
  XP_006713547 (Get FASTA)   NCBI Sequence Viewer  
  XP_011510661 (Get FASTA)   NCBI Sequence Viewer  
  XP_011510662 (Get FASTA)   NCBI Sequence Viewer  
  XP_011510663 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861127 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861128 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303315 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303316 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303317 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303318 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303319 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303320 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303321 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201034 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201035 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201036 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201037 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201038 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201039 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201040 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201041 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201042 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201043 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201044 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201045 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201046 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201047 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201048 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD00121 (Get FASTA)   NCBI Sequence Viewer  
  AAM94374 (Get FASTA)   NCBI Sequence Viewer  
  ADO22365 (Get FASTA)   NCBI Sequence Viewer  
  BAG52770 (Get FASTA)   NCBI Sequence Viewer  
  BAG54070 (Get FASTA)   NCBI Sequence Viewer  
  BAH11813 (Get FASTA)   NCBI Sequence Viewer  
  BAH13787 (Get FASTA)   NCBI Sequence Viewer  
  BAH13892 (Get FASTA)   NCBI Sequence Viewer  
  BAH14859 (Get FASTA)   NCBI Sequence Viewer  
  DAA00057 (Get FASTA)   NCBI Sequence Viewer  
  EAW79450 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000308685
  ENSP00000308685.5
  ENSP00000417789.1
  ENSP00000418537
  ENSP00000418537.1
  ENSP00000419361
  ENSP00000419361.1
  ENSP00000420082
  ENSP00000420082.2
  ENSP00000420252
  ENSP00000420252.2
  ENSP00000514539
  ENSP00000514539.1
  ENSP00000514540.1
  ENSP00000514541
  ENSP00000514541.1
  ENSP00000514542.1
  ENSP00000514543
  ENSP00000514543.1
GenBank Protein O95622 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_899200   ⟸   NM_183357
- Peptide Label: isoform 1
- UniProtKB: Q7RTV7 (UniProtKB/Swiss-Prot),   B7Z8A6 (UniProtKB/Swiss-Prot),   Q8NFM3 (UniProtKB/Swiss-Prot),   O95622 (UniProtKB/Swiss-Prot),   A0A384P5Q5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001186571   ⟸   NM_001199642
- Peptide Label: isoform 2
- UniProtKB: A0A8V8TNW3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005247135   ⟸   XM_005247078
- Peptide Label: isoform X3
- UniProtKB: A0A8V8TNW3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006713547   ⟸   XM_006713484
- Peptide Label: isoform X11
- UniProtKB: C9JQ38 (UniProtKB/TrEMBL),   C9JRT8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006713546   ⟸   XM_006713483
- Peptide Label: isoform X7
- UniProtKB: B3KWA8 (UniProtKB/TrEMBL),   A0A8V8TNW3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011510661   ⟸   XM_011512359
- Peptide Label: isoform X1
- UniProtKB: A0A8V8TNW3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011510663   ⟸   XM_011512361
- Peptide Label: isoform X11
- UniProtKB: C9JQ38 (UniProtKB/TrEMBL),   C9JRT8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011510662   ⟸   XM_011512360
- Peptide Label: isoform X5
- UniProtKB: A0A8V8TNW3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016861128   ⟸   XM_017005639
- Peptide Label: isoform X6
- UniProtKB: A0A8V8TNW3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016861127   ⟸   XM_017005638
- Peptide Label: isoform X2
- UniProtKB: A0A8V8TNW3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001365188   ⟸   NM_001378259
- Peptide Label: isoform 3
- UniProtKB: A0A8V8TP58 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000419361   ⟸   ENST00000462833
Ensembl Acc Id: ENSP00000418537   ⟸   ENST00000491190
Ensembl Acc Id: ENSP00000420082   ⟸   ENST00000466617
Ensembl Acc Id: ENSP00000308685   ⟸   ENST00000309879
Ensembl Acc Id: ENSP00000420252   ⟸   ENST00000483566
Ensembl Acc Id: ENSP00000417789   ⟸   ENST00000476455
RefSeq Acc Id: XP_047303315   ⟸   XM_047447359
- Peptide Label: isoform X4
- UniProtKB: A0A8V8TNW3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047303320   ⟸   XM_047447364
- Peptide Label: isoform X11
- UniProtKB: C9JQ38 (UniProtKB/TrEMBL),   C9JRT8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047303317   ⟸   XM_047447361
- Peptide Label: isoform X9
- UniProtKB: A0A8V8TNW3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047303318   ⟸   XM_047447362
- Peptide Label: isoform X10
- UniProtKB: A0A8V8TNW3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047303319   ⟸   XM_047447363
- Peptide Label: isoform X11
- UniProtKB: C9JQ38 (UniProtKB/TrEMBL),   C9JRT8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047303316   ⟸   XM_047447360
- Peptide Label: isoform X8
- UniProtKB: A0A8V8TNW3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047303321   ⟸   XM_047447365
- Peptide Label: isoform X12
- UniProtKB: C9JQ38 (UniProtKB/TrEMBL),   C9JRT8 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000514540   ⟸   ENST00000699715
Ensembl Acc Id: ENSP00000514542   ⟸   ENST00000699716
Ensembl Acc Id: ENSP00000514539   ⟸   ENST00000699714
Ensembl Acc Id: ENSP00000514543   ⟸   ENST00000699718
RefSeq Acc Id: XP_054201034   ⟸   XM_054345059
- Peptide Label: isoform X1
- UniProtKB: A0A8V8TNW3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201037   ⟸   XM_054345062
- Peptide Label: isoform X4
- UniProtKB: A0A8V8TNW3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201036   ⟸   XM_054345061
- Peptide Label: isoform X3
- UniProtKB: A0A8V8TNW3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201044   ⟸   XM_054345069
- Peptide Label: isoform X11
- UniProtKB: C9JQ38 (UniProtKB/TrEMBL),   C9JRT8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201045   ⟸   XM_054345070
- Peptide Label: isoform X11
- UniProtKB: C9JQ38 (UniProtKB/TrEMBL),   C9JRT8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201047   ⟸   XM_054345072
- Peptide Label: isoform X11
- UniProtKB: C9JQ38 (UniProtKB/TrEMBL),   C9JRT8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201042   ⟸   XM_054345067
- Peptide Label: isoform X9
- UniProtKB: A0A8V8TNW3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201039   ⟸   XM_054345064
- Peptide Label: isoform X6
- UniProtKB: A0A8V8TNW3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201035   ⟸   XM_054345060
- Peptide Label: isoform X2
- UniProtKB: A0A8V8TNW3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201043   ⟸   XM_054345068
- Peptide Label: isoform X10
- UniProtKB: A0A8V8TNW3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201040   ⟸   XM_054345065
- Peptide Label: isoform X7
- UniProtKB: A0A8V8TNW3 (UniProtKB/TrEMBL),   B3KWA8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201046   ⟸   XM_054345071
- Peptide Label: isoform X11
- UniProtKB: C9JQ38 (UniProtKB/TrEMBL),   C9JRT8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201038   ⟸   XM_054345063
- Peptide Label: isoform X5
- UniProtKB: A0A8V8TNW3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201041   ⟸   XM_054345066
- Peptide Label: isoform X8
- UniProtKB: A0A8V8TNW3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201048   ⟸   XM_054345073
- Peptide Label: isoform X12
- UniProtKB: C9JQ38 (UniProtKB/TrEMBL),   C9JRT8 (UniProtKB/TrEMBL)
Protein Domains
Guanylate cyclase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O95622-F1-model_v2 AlphaFold O95622 1-1261 view protein structure

Promoters
RGD ID:6865468
Promoter ID:EPDNEW_H5899
Type:initiation region
Name:ADCY5_2
Description:adenylate cyclase 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5900  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,449,090 - 123,449,150EPDNEW
RGD ID:6865470
Promoter ID:EPDNEW_H5900
Type:initiation region
Name:ADCY5_1
Description:adenylate cyclase 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5899  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383123,449,754 - 123,449,814EPDNEW
RGD ID:6800579
Promoter ID:HG_KWN:46010
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562
Transcripts:ENST00000309879
Position:
Human AssemblyChrPosition (strand)Source
Build 363124,649,781 - 124,650,447 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:236 AgrOrtholog
COSMIC ADCY5 COSMIC
Ensembl Genes ENSG00000173175 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000309879 ENTREZGENE
  ENST00000309879.9 UniProtKB/Swiss-Prot
  ENST00000462833 ENTREZGENE
  ENST00000462833.6 UniProtKB/Swiss-Prot
  ENST00000466617 ENTREZGENE
  ENST00000466617.6 UniProtKB/TrEMBL
  ENST00000470367 ENTREZGENE
  ENST00000470367.2 UniProtKB/TrEMBL
  ENST00000476455.1 UniProtKB/TrEMBL
  ENST00000483566 ENTREZGENE
  ENST00000483566.2 UniProtKB/TrEMBL
  ENST00000491190 ENTREZGENE
  ENST00000491190.5 UniProtKB/TrEMBL
  ENST00000699714 ENTREZGENE
  ENST00000699714.1 UniProtKB/TrEMBL
  ENST00000699715.1 UniProtKB/TrEMBL
  ENST00000699716.1 UniProtKB/TrEMBL
  ENST00000699718 ENTREZGENE
  ENST00000699718.1 UniProtKB/TrEMBL
Gene3D-CATH 3.30.70.1230 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000173175 GTEx
HGNC ID HGNC:236 ENTREZGENE
Human Proteome Map ADCY5 Human Proteome Map
InterPro A/G_cyclase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  A/G_cyclase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AC_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Adcy UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Adcy_conserved_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleotide_cyclase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:111 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 111 ENTREZGENE
OMIM 600293 OMIM
PANTHER ADENYLATE CYCLASE TYPE 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ADENYLATE CYCLASE TYPE 5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam AC_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DUF1053 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Guanylate_cyc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24563 PharmGKB
PIRSF Ade_cyc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE GUANYLATE_CYCLASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GUANYLATE_CYCLASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CYCc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF55073 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A384P5Q5 ENTREZGENE, UniProtKB/TrEMBL
  A0A8V8TNW3 ENTREZGENE, UniProtKB/TrEMBL
  A0A8V8TP58 ENTREZGENE, UniProtKB/TrEMBL
  ADCY5_HUMAN UniProtKB/Swiss-Prot
  B3KWA8 ENTREZGENE, UniProtKB/TrEMBL
  B7Z2C7_HUMAN UniProtKB/TrEMBL
  B7Z8A6 ENTREZGENE
  C9JQ38 ENTREZGENE
  C9JRT8 ENTREZGENE, UniProtKB/TrEMBL
  F8WBM0_HUMAN UniProtKB/TrEMBL
  O95622 ENTREZGENE
  Q7RTV7 ENTREZGENE
  Q8NFM3 ENTREZGENE
UniProt Secondary B7Z8A6 UniProtKB/Swiss-Prot
  C9JQ38 UniProtKB/TrEMBL
  Q7RTV7 UniProtKB/Swiss-Prot
  Q8NFM3 UniProtKB/Swiss-Prot