C18orf63 (chromosome 18 open reading frame 63) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: C18orf63 (chromosome 18 open reading frame 63) Homo sapiens
Analyze
Symbol: C18orf63
Name: chromosome 18 open reading frame 63
RGD ID: 5132403
HGNC Page HGNC:40037
Description: ASSOCIATED WITH chromosome 18q deletion syndrome; genetic disease; Intestinal malrotation; INTERACTS WITH 2-palmitoylglycerol; tebuconazole
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: DKFZP781G0119; hypothetical protein LOC644041; uncharacterized protein C18orf63
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381874,315,839 - 74,359,189 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1874,315,839 - 74,359,189 (+)EnsemblGRCh38hg38GRCh38
GRCh371871,983,074 - 72,026,424 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361870,134,026 - 70,177,404 (+)NCBINCBI36Build 36hg18NCBI36
Celera1868,850,455 - 68,893,768 (+)NCBICelera
Cytogenetic Map18q22.3NCBI
HuRef1868,715,345 - 68,758,653 (+)NCBIHuRef
CHM1_11871,978,309 - 72,021,621 (+)NCBICHM1_1
T2T-CHM13v2.01874,543,390 - 74,586,735 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References
Additional References at PubMed
PMID:29507755   PMID:35013218   PMID:36517590  


Genomics

Comparative Map Data
C18orf63
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381874,315,839 - 74,359,189 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1874,315,839 - 74,359,189 (+)EnsemblGRCh38hg38GRCh38
GRCh371871,983,074 - 72,026,424 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361870,134,026 - 70,177,404 (+)NCBINCBI36Build 36hg18NCBI36
Celera1868,850,455 - 68,893,768 (+)NCBICelera
Cytogenetic Map18q22.3NCBI
HuRef1868,715,345 - 68,758,653 (+)NCBIHuRef
CHM1_11871,978,309 - 72,021,621 (+)NCBICHM1_1
T2T-CHM13v2.01874,543,390 - 74,586,735 (+)NCBIT2T-CHM13v2.0
Gm17266
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391884,813,104 - 84,856,766 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1884,816,683 - 84,854,841 (-)EnsemblGRCm39 Ensembl
GRCm381884,794,979 - 84,838,641 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1884,798,558 - 84,836,716 (-)EnsemblGRCm38mm10GRCm38
MGSCv371884,967,950 - 85,006,108 (-)NCBIGRCm37MGSCv37mm9NCBIm37
Celera1885,864,250 - 85,901,657 (-)NCBICelera
Cytogenetic Map18E4NCBI
cM Map1857.53NCBI
C18h18orf63
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81880,434,363 - 80,477,235 (-)NCBIGRCr8
mRatBN7.21878,159,334 - 78,202,317 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1878,164,661 - 78,202,326 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.01881,644,346 - 81,683,983 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1881,644,858 - 81,682,206 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01880,644,848 - 80,728,350 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41881,366,583 - 81,403,360 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1876,778,682 - 76,818,318 (-)NCBICelera
Cytogenetic Map18q12.3NCBI
CUNH18orf63
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540257,753,018 - 57,805,495 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540257,753,626 - 57,805,255 (+)NCBIChiLan1.0ChiLan1.0
C17H18orf63
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21791,851,001 - 91,893,887 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11877,543,624 - 77,586,510 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01867,700,930 - 67,741,493 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11870,981,685 - 71,022,136 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1870,981,368 - 71,024,698 (+)Ensemblpanpan1.1panPan2
C1H18orf63
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.115,028,255 - 5,062,610 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl15,030,825 - 5,061,846 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha16,035,590 - 6,069,943 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.014,838,717 - 4,873,077 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl14,842,492 - 4,877,301 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.114,877,566 - 4,909,187 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.014,833,375 - 4,865,571 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.015,002,355 - 5,036,727 (-)NCBIUU_Cfam_GSD_1.0
CUNH18orf63
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494418,803,913 - 18,849,581 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049366164,125,043 - 4,170,685 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
C1H18orf63
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1149,687,631 - 149,725,161 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11149,685,242 - 149,725,523 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21166,007,610 - 166,028,797 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CUNH18orf63
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1185,532,726 - 5,575,198 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl185,535,139 - 5,572,666 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606020,310,929 - 20,348,254 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
CUNH18orf63
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248066,350,054 - 6,384,940 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in C18orf63
3 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3 copy number gain See cases [RCV000050989] Chr18:50068129..80252149 [GRCh38]
Chr18:47594499..78010032 [GRCh37]
Chr18:45848497..76111023 [NCBI36]
Chr18:18q21.1-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:64950938-80252149)x1 copy number loss See cases [RCV000050985] Chr18:64950938..80252149 [GRCh38]
Chr18:62618174..78010032 [GRCh37]
Chr18:60769154..76111023 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1 copy number loss See cases [RCV000051032] Chr18:56618038..80252149 [GRCh38]
Chr18:54285269..78010032 [GRCh37]
Chr18:52436267..76111023 [NCBI36]
Chr18:18q21.31-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3 copy number gain See cases [RCV000052543] Chr18:20960320..80234429 [GRCh38]
Chr18:18540281..77992312 [GRCh37]
Chr18:16794279..76093303 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3 copy number gain See cases [RCV000052549] Chr18:20989762..80209986 [GRCh38]
Chr18:18569723..77967869 [GRCh37]
Chr18:16823721..76068860 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q21.33-23(chr18:63195579-80234429)x3 copy number gain See cases [RCV000052572] Chr18:63195579..80234429 [GRCh38]
Chr18:60862812..77992312 [GRCh37]
Chr18:59013792..76093303 [NCBI36]
Chr18:18q21.33-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:64747528-80252290)x3 copy number gain See cases [RCV000052573] Chr18:64747528..80252290 [GRCh38]
Chr18:62414764..78010173 [GRCh37]
Chr18:60565744..76111164 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:53637007-80252149)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|See cases [RCV000053869] Chr18:53637007..80252149 [GRCh38]
Chr18:51163377..78010032 [GRCh37]
Chr18:49417375..76111023 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1 copy number loss See cases [RCV000053873] Chr18:56353040..80209986 [GRCh38]
Chr18:54020271..77967869 [GRCh37]
Chr18:52171269..76068860 [NCBI36]
Chr18:18q21.31-23		 pathogenic
GRCh38/hg38 18q21.33-23(chr18:62999696-80209986)x1 copy number loss See cases [RCV000053875] Chr18:62999696..80209986 [GRCh38]
Chr18:60666929..77967869 [GRCh37]
Chr18:58817909..76068860 [NCBI36]
Chr18:18q21.33-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:63988650-80252149)x1 copy number loss See cases [RCV000053876] Chr18:63988650..80252149 [GRCh38]
Chr18:61655884..78010032 [GRCh37]
Chr18:59806864..76111023 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:67078720-77675655)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053903]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053903]|See cases [RCV000053903] Chr18:67078720..77675655 [GRCh38]
Chr18:64745957..75387611 [GRCh37]
Chr18:62896937..73516599 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q22.2-23(chr18:69288245-80252149)x1 copy number loss See cases [RCV000053905] Chr18:69288245..80252149 [GRCh38]
Chr18:66955481..78010032 [GRCh37]
Chr18:65106461..76111023 [NCBI36]
Chr18:18q22.2-23		 pathogenic
GRCh38/hg38 18q22.3-23(chr18:74207209-79351148)x1 copy number loss See cases [RCV000053906] Chr18:74207209..79351148 [GRCh38]
Chr18:71874444..77111148 [GRCh37]
Chr18:70025424..75212136 [NCBI36]
Chr18:18q22.3-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:51605752-80252149)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]|See cases [RCV000053834] Chr18:51605752..80252149 [GRCh38]
Chr18:49132122..78010032 [GRCh37]
Chr18:47386120..76111023 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q22.2-23(chr18:69200589-80252149)x1 copy number loss See cases [RCV000133824] Chr18:69200589..80252149 [GRCh38]
Chr18:66867826..78010032 [GRCh37]
Chr18:65018806..76111023 [NCBI36]
Chr18:18q22.2-23		 pathogenic
GRCh38/hg38 18q21.32-23(chr18:59567681-80252149)x1 copy number loss See cases [RCV000133689] Chr18:59567681..80252149 [GRCh38]
Chr18:57234913..78010032 [GRCh37]
Chr18:55385893..76111023 [NCBI36]
Chr18:18q21.32-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q22.3-23(chr18:71067804-80252149)x1 copy number loss See cases [RCV000135818] Chr18:71067804..80252149 [GRCh38]
Chr18:68735040..78010032 [GRCh37]
Chr18:66886020..76111023 [NCBI36]
Chr18:18q22.3-23		 pathogenic
GRCh38/hg38 18q21.33-23(chr18:63306200-80252149)x1 copy number loss See cases [RCV000135838] Chr18:63306200..80252149 [GRCh38]
Chr18:60973433..78010032 [GRCh37]
Chr18:59124413..76111023 [NCBI36]
Chr18:18q21.33-23		 pathogenic
GRCh38/hg38 18q21.33-23(chr18:61576009-80252149)x1 copy number loss See cases [RCV000135616] Chr18:61576009..80252149 [GRCh38]
Chr18:59243242..78010032 [GRCh37]
Chr18:57394222..76111023 [NCBI36]
Chr18:18q21.33-23		 pathogenic
GRCh38/hg38 18q22.3-23(chr18:72426712-80252149)x1 copy number loss See cases [RCV000135539] Chr18:72426712..80252149 [GRCh38]
Chr18:70093947..78010032 [GRCh37]
Chr18:68244927..76111023 [NCBI36]
Chr18:18q22.3-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1 copy number loss See cases [RCV000135413] Chr18:51190429..80252149 [GRCh38]
Chr18:48716799..78010032 [GRCh37]
Chr18:46970797..76111023 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.33-23(chr18:61827111-80252149)x1 copy number loss See cases [RCV000135567] Chr18:61827111..80252149 [GRCh38]
Chr18:59494344..78010032 [GRCh37]
Chr18:57645324..76111023 [NCBI36]
Chr18:18q21.33-23		 pathogenic|uncertain significance
GRCh38/hg38 18q22.1-23(chr18:67772576-80252149)x1 copy number loss See cases [RCV000136555] Chr18:67772576..80252149 [GRCh38]
Chr18:65439813..78010032 [GRCh37]
Chr18:63590793..76111023 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:68417596-80252149)x1 copy number loss See cases [RCV000136122] Chr18:68417596..80252149 [GRCh38]
Chr18:66084833..78010032 [GRCh37]
Chr18:64235813..76111023 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:65693588-80252149)x1 copy number loss See cases [RCV000136911] Chr18:65693588..80252149 [GRCh38]
Chr18:63360824..78010032 [GRCh37]
Chr18:61511804..76111023 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3 copy number gain See cases [RCV000136890] Chr18:32123105..80252149 [GRCh38]
Chr18:29703068..78010032 [GRCh37]
Chr18:27957066..76111023 [NCBI36]
Chr18:18q12.1-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1 copy number loss See cases [RCV000136674] Chr18:53865057..80252149 [GRCh38]
Chr18:51391427..78010032 [GRCh37]
Chr18:49645425..76111023 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:68830234-80254946)x1 copy number loss See cases [RCV000137431] Chr18:68830234..80254946 [GRCh38]
Chr18:66497471..78012829 [GRCh37]
Chr18:64648451..76113817 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:65658824-80254946)x1 copy number loss See cases [RCV000137598] Chr18:65658824..80254946 [GRCh38]
Chr18:63326060..78012829 [GRCh37]
Chr18:61477040..76113817 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:68563422-80254946)x1 copy number loss See cases [RCV000137379] Chr18:68563422..80254946 [GRCh38]
Chr18:66230659..78012829 [GRCh37]
Chr18:64381639..76113817 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3 copy number gain See cases [RCV000137342] Chr18:49199411..80254946 [GRCh38]
Chr18:46725781..78012829 [GRCh37]
Chr18:44979779..76113817 [NCBI36]
Chr18:18q21.1-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1 copy number loss See cases [RCV000137375] Chr18:55179364..80254946 [GRCh38]
Chr18:52846595..78012829 [GRCh37]
Chr18:50997593..76113817 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3 copy number gain See cases [RCV000138034] Chr18:42651392..80254946 [GRCh38]
Chr18:40231357..78012829 [GRCh37]
Chr18:38485355..76113817 [NCBI36]
Chr18:18q12.3-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:66190016-80254946)x1 copy number loss See cases [RCV000137808] Chr18:66190016..80254946 [GRCh38]
Chr18:63857253..78012829 [GRCh37]
Chr18:62008233..76113817 [NCBI36]
Chr18:18q22.1-23		 pathogenic|likely pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23		 pathogenic|conflicting data from submitters
GRCh38/hg38 18q22.1-23(chr18:64747728-80254946)x1 copy number loss See cases [RCV000138707] Chr18:64747728..80254946 [GRCh38]
Chr18:62414964..78012829 [GRCh37]
Chr18:60565944..76113817 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q22.3-23(chr18:73332839-80254946)x3 copy number gain See cases [RCV000138718] Chr18:73332839..80254946 [GRCh38]
Chr18:71000074..78012829 [GRCh37]
Chr18:69151054..76113817 [NCBI36]
Chr18:18q22.3-23		 pathogenic
GRCh38/hg38 18q22.3-23(chr18:73332839-80254946)x1 copy number loss See cases [RCV000138719] Chr18:73332839..80254946 [GRCh38]
Chr18:71000074..78012829 [GRCh37]
Chr18:69151054..76113817 [NCBI36]
Chr18:18q22.3-23		 pathogenic
GRCh38/hg38 18q22.3-23(chr18:72043906-80254936)x1 copy number loss See cases [RCV000138491] Chr18:72043906..80254936 [GRCh38]
Chr18:69711141..78012819 [GRCh37]
Chr18:67862121..76113807 [NCBI36]
Chr18:18q22.3-23		 pathogenic
GRCh38/hg38 18q22.2-23(chr18:69650802-80254946)x1 copy number loss See cases [RCV000138248] Chr18:69650802..80254946 [GRCh38]
Chr18:67318038..78012829 [GRCh37]
Chr18:65469018..76113817 [NCBI36]
Chr18:18q22.2-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:66649227-80254936)x1 copy number loss See cases [RCV000138638] Chr18:66649227..80254936 [GRCh38]
Chr18:64316464..78012819 [GRCh37]
Chr18:62467444..76113807 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1 copy number loss See cases [RCV000139134] Chr18:52421052..80254946 [GRCh38]
Chr18:49947422..78012829 [GRCh37]
Chr18:48201420..76113817 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3 copy number gain See cases [RCV000139496] Chr18:53959828..80254936 [GRCh38]
Chr18:51486198..78012819 [GRCh37]
Chr18:49740196..76113807 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.32-23(chr18:59996934-80254946)x1 copy number loss See cases [RCV000139669] Chr18:59996934..80254946 [GRCh38]
Chr18:57664166..78012829 [GRCh37]
Chr18:55815146..76113817 [NCBI36]
Chr18:18q21.32-23		 pathogenic
GRCh38/hg38 18q22.3-23(chr18:71872883-80254946)x3 copy number gain See cases [RCV000139457] Chr18:71872883..80254946 [GRCh38]
Chr18:69540119..78012829 [GRCh37]
Chr18:67691099..76113817 [NCBI36]
Chr18:18q22.3-23		 pathogenic
GRCh38/hg38 18q21.33-23(chr18:63756916-80254946)x1 copy number loss See cases [RCV000139464] Chr18:63756916..80254946 [GRCh38]
Chr18:61424150..78012829 [GRCh37]
Chr18:59575130..76113817 [NCBI36]
Chr18:18q21.33-23		 pathogenic
GRCh38/hg38 18q21.33-23(chr18:61613338-80252090)x1 copy number loss See cases [RCV000141429] Chr18:61613338..80252090 [GRCh38]
Chr18:59280571..78009973 [GRCh37]
Chr18:57431551..76110964 [NCBI36]
Chr18:18q21.33-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:68340002-80256240)x1 copy number loss See cases [RCV000140899] Chr18:68340002..80256240 [GRCh38]
Chr18:66007239..78014123 [GRCh37]
Chr18:64158219..76115097 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1 copy number loss See cases [RCV000140925] Chr18:51167159..80256240 [GRCh38]
Chr18:48693529..78014123 [GRCh37]
Chr18:46947527..76115097 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3 copy number gain See cases [RCV000142227] Chr18:40367455..80256240 [GRCh38]
Chr18:37947419..78014123 [GRCh37]
Chr18:36201417..76115097 [NCBI36]
Chr18:18q12.3-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:66456349-80256240)x1 copy number loss See cases [RCV000142176] Chr18:66456349..80256240 [GRCh38]
Chr18:64123586..78014123 [GRCh37]
Chr18:62274566..76115097 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3 copy number gain See cases [RCV000143057] Chr18:20962119..74691446 [GRCh38]
Chr18:18542080..72403402 [GRCh37]
Chr18:16796078..70532390 [NCBI36]
Chr18:18q11.1-22.3		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:67686362-80252149)x3 copy number gain See cases [RCV000142689] Chr18:67686362..80252149 [GRCh38]
Chr18:65353599..78010032 [GRCh37]
Chr18:63504579..76111023 [NCBI36]
Chr18:18q22.1-23		 pathogenic|likely pathogenic
GRCh38/hg38 18q22.3-23(chr18:72639340-80254946)x1 copy number loss See cases [RCV000143196] Chr18:72639340..80254946 [GRCh38]
Chr18:70306575..78012829 [GRCh37]
Chr18:68457555..76113817 [NCBI36]
Chr18:18q22.3-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:68857904-80256240)x1 copy number loss See cases [RCV000143557] Chr18:68857904..80256240 [GRCh38]
Chr18:66525141..78014123 [GRCh37]
Chr18:64676121..76115097 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3 copy number gain See cases [RCV000240476] Chr18:18548019..77954165 [GRCh37]
Chr18:18q11.1-23		 pathogenic
GRCh37/hg19 18q21.32-23(chr18:58525322-78005236)x3 copy number gain See cases [RCV000240296] Chr18:58525322..78005236 [GRCh37]
Chr18:18q21.32-23		 pathogenic
GRCh37/hg19 18q22.3-23(chr18:71078132-78005236)x3 copy number gain See cases [RCV000240461] Chr18:71078132..78005236 [GRCh37]
Chr18:18q22.3-23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:59461447-78010032)x1 copy number loss not provided [RCV000416006] Chr18:59461447..78010032 [GRCh37]
Chr18:18q21.33-23		 likely pathogenic
GRCh37/hg19 18q21.33-23(chr18:59332806-78014123)x1 copy number loss See cases [RCV000449163] Chr18:59332806..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:65648458-78005185)x1 copy number loss See cases [RCV000446791] Chr18:65648458..78005185 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:66593317-78014123)x1 copy number loss See cases [RCV000447117] Chr18:66593317..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:60641553-78014123)x1 copy number loss See cases [RCV000447127] Chr18:60641553..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:60796196-78014123)x1 copy number loss See cases [RCV000446171] Chr18:60796196..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:50224898-78014123)x1 copy number loss See cases [RCV000510720] Chr18:50224898..78014123 [GRCh37]
Chr18:18q21.2-23		 likely pathogenic
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123)x1 copy number loss See cases [RCV000445943] Chr18:53100584..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123)x1 copy number loss See cases [RCV000447931] Chr18:47656799..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426)x1 copy number loss See cases [RCV000448656] Chr18:52837852..77989426 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3 copy number gain See cases [RCV000512081] Chr18:33417216..78014123 [GRCh37]
Chr18:18q12.2-23		 pathogenic
GRCh37/hg19 18q21.31-23(chr18:54462182-78014123)x1 copy number loss See cases [RCV000512059] Chr18:54462182..78014123 [GRCh37]
Chr18:18q21.31-23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:47454437-78014123)x3 copy number gain See cases [RCV000510655] Chr18:47454437..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:59809990-78014123)x1 copy number loss See cases [RCV000510685] Chr18:59809990..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3 copy number gain See cases [RCV000511394] Chr18:43776770..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3 copy number gain See cases [RCV000512030] Chr18:14869204..78014123 [GRCh37]
Chr18:18p11.21-q23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:64524888-78014123)x1 copy number loss See cases [RCV000511752] Chr18:64524888..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:46177798-78014123)x1 copy number loss See cases [RCV000511759] Chr18:46177798..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3 copy number gain See cases [RCV000511203] Chr18:42930373..78014123 [GRCh37]
Chr18:18q12.3-23		 pathogenic
GRCh37/hg19 18q22.3-23(chr18:70340543-78014123)x1 copy number loss See cases [RCV000511232] Chr18:70340543..78014123 [GRCh37]
Chr18:18q22.3-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:66625843-78014123)x1 copy number loss See cases [RCV000510824] Chr18:66625843..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:59876469-78014123)x1 copy number loss See cases [RCV000511105] Chr18:59876469..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
Single allele deletion Deletion of long arm of chromosome 18 [RCV000768454] Chr18:58024137..77996821 [GRCh37]
Chr18:18q21.32-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:61802304-78015180)x1 copy number loss See cases [RCV000515583] Chr18:61802304..78015180 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:61673145-78014123)x1 copy number loss See cases [RCV000512607] Chr18:61673145..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q22.2-23(chr18:67431406-78014123)x1 copy number loss See cases [RCV000512218] Chr18:67431406..78014123 [GRCh37]
Chr18:18q22.2-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:66593317-78014123)x1 copy number loss See cases [RCV000512281] Chr18:66593317..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3 copy number gain See cases [RCV000512425] Chr18:31879854..78014123 [GRCh37]
Chr18:18q12.1-23		 pathogenic
GRCh37/hg19 18q21.32-23(chr18:58768873-78014123)x1 copy number loss See cases [RCV000512579] Chr18:58768873..78014123 [GRCh37]
Chr18:18q21.32-23		 pathogenic
GRCh37/hg19 18q22.3-23(chr18:69968033-78014123)x1 copy number loss not provided [RCV000684045] Chr18:69968033..78014123 [GRCh37]
Chr18:18q22.3-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:64610595-78014123)x1 copy number loss not provided [RCV000684050] Chr18:64610595..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q21.31-22.3(chr18:55083032-72743857)x1 copy number loss not provided [RCV000684056] Chr18:55083032..72743857 [GRCh37]
Chr18:18q21.31-22.3		 pathogenic
GRCh37/hg19 18q21.31-23(chr18:55298900-78014123)x1 copy number loss not provided [RCV000684059] Chr18:55298900..78014123 [GRCh37]
Chr18:18q21.31-23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:46942427-78014123)x1 copy number loss not provided [RCV000684060] Chr18:46942427..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q22.3(chr18:70720102-72235432)x3 copy number gain not provided [RCV000684025] Chr18:70720102..72235432 [GRCh37]
Chr18:18q22.3		 uncertain significance
GRCh37/hg19 18q22.3(chr18:68734452-72023650)x3 copy number gain not provided [RCV000684035] Chr18:68734452..72023650 [GRCh37]
Chr18:18q22.3		 uncertain significance
GRCh37/hg19 18q21.33-23(chr18:60416709-78014123)x1 copy number loss not provided [RCV000684055] Chr18:60416709..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q22.2-23(chr18:67082104-78014123)x1 copy number loss not provided [RCV000684047] Chr18:67082104..78014123 [GRCh37]
Chr18:18q22.2-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:64764747-78014123)x1 copy number loss not provided [RCV000684049] Chr18:64764747..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q21.32-23(chr18:56905884-78014123)x1 copy number loss not provided [RCV000684058] Chr18:56905884..78014123 [GRCh37]
Chr18:18q21.32-23		 pathogenic
GRCh37/hg19 18q22.3(chr18:71930888-72132622)x3 copy number gain not provided [RCV000683980] Chr18:71930888..72132622 [GRCh37]
Chr18:18q22.3		 uncertain significance
GRCh37/hg19 18q22.3(chr18:71904763-72504853)x1 copy number loss not provided [RCV000684005] Chr18:71904763..72504853 [GRCh37]
Chr18:18q22.3		 uncertain significance
GRCh37/hg19 18q21.2-23(chr18:52802515-78015180)x1 copy number loss not provided [RCV000739824] Chr18:52802515..78015180 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:64232938-75262263)x1 copy number loss not provided [RCV000739850] Chr18:64232938..75262263 [GRCh37]
Chr18:18q22.1-23		 benign
GRCh37/hg19 18q22.2-23(chr18:68552596-78015180)x1 copy number loss not provided [RCV000739867] Chr18:68552596..78015180 [GRCh37]
Chr18:18q22.2-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
Single allele deletion Intestinal malrotation [RCV000754988] Chr18:64876751..78015117 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:60098018-78014123)x1 copy number loss not provided [RCV001007019] Chr18:60098018..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q21.32-23(chr18:57244903-77325446)x1 copy number loss not provided [RCV000752356] Chr18:57244903..77325446 [GRCh37]
Chr18:18q21.32-23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:59585959-78015180)x1 copy number loss not provided [RCV000752366] Chr18:59585959..78015180 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q22.3(chr18:71284637-72117258)x3 copy number gain not provided [RCV000752403] Chr18:71284637..72117258 [GRCh37]
Chr18:18q22.3		 benign
GRCh37/hg19 18q21.2-23(chr18:49460596-78014123)x1 copy number loss not provided [RCV001007016] Chr18:49460596..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:63247046-78014123)x1 copy number loss not provided [RCV001007020] Chr18:63247046..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q22.2-23(chr18:67551299-78014123)x1 copy number loss not provided [RCV001007021] Chr18:67551299..78014123 [GRCh37]
Chr18:18q22.2-23		 pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787397] Chr18:62984563..78015117 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:66620343-74065460)x1 copy number loss not provided [RCV001007009] Chr18:66620343..74065460 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q21.32-23(chr18:56750525-78014123)x1 copy number loss not provided [RCV001007018] Chr18:56750525..78014123 [GRCh37]
Chr18:18q21.32-23		 pathogenic
GRCh37/hg19 18q22.3-23(chr18:70011110-78014123)x1 copy number loss not provided [RCV000847255] Chr18:70011110..78014123 [GRCh37]
Chr18:18q22.3-23		 pathogenic
GRCh37/hg19 18q22.3-23(chr18:70011110-78014123)x1 copy number loss not provided [RCV000847258] Chr18:70011110..78014123 [GRCh37]
Chr18:18q22.3-23		 pathogenic
GRCh37/hg19 18q21.31-23(chr18:55458425-78014123)x1 copy number loss not provided [RCV001007017] Chr18:55458425..78014123 [GRCh37]
Chr18:18q21.31-23		 pathogenic
GRCh37/hg19 18q22.3(chr18:69163716-72387913)x3 copy number gain not provided [RCV000849312] Chr18:69163716..72387913 [GRCh37]
Chr18:18q22.3		 uncertain significance
GRCh37/hg19 18q22.3-23(chr18:70212733-78014123)x1 copy number loss not provided [RCV001007022] Chr18:70212733..78014123 [GRCh37]
Chr18:18q22.3-23		 pathogenic
GRCh37/hg19 18q22.3-23(chr18:71740696-78005231)x1 copy number loss not provided [RCV003312421] Chr18:71740696..78005231 [GRCh37]
Chr18:18q22.3-23		 pathogenic
GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3 copy number gain not provided [RCV001537911] Chr18:23626739..78014976 [GRCh37]
Chr18:18q11.2-23		 pathogenic
GRCh37/hg19 18q21.31-23(chr18:54285235-77960815)x1 copy number loss not provided [RCV001531449] Chr18:54285235..77960815 [GRCh37]
Chr18:18q21.31-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:61994711-74293556)x1 copy number loss not provided [RCV001007010] Chr18:61994711..74293556 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q22.3-23(chr18:70383594-78014123)x1 copy number loss not provided [RCV001007023] Chr18:70383594..78014123 [GRCh37]
Chr18:18q22.3-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:63747519-78014123)x3 copy number gain not provided [RCV001259360] Chr18:63747519..78014123 [GRCh37]
Chr18:18q22.1-23		 likely pathogenic
GRCh37/hg19 18q22.3-23(chr18:70835154-78014123)x1 copy number loss not provided [RCV001259363] Chr18:70835154..78014123 [GRCh37]
Chr18:18q22.3-23		 pathogenic
Single allele deletion Deletion of long arm of chromosome 18 [RCV002280357] Chr18:61490305..80247612 [GRCh38]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:51925586-78010032) copy number gain Global developmental delay [RCV001352665] Chr18:51925586..78010032 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123) copy number loss not specified [RCV002052643] Chr18:53100584..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:64340599-77273893) copy number loss not specified [RCV002052652] Chr18:64340599..77273893 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q22.2-23(chr18:68585785-74978794)x1 copy number loss not provided [RCV001827682] Chr18:68585785..74978794 [GRCh37]
Chr18:18q22.2-23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123) copy number loss not specified [RCV002052636] Chr18:47656799..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426) copy number loss not specified [RCV002052642] Chr18:52837852..77989426 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) copy number gain not specified [RCV002052616] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:59332806-78014123) copy number loss not specified [RCV002052649] Chr18:59332806..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:61289055-78014123) copy number loss Deletion of long arm of chromosome 18 [RCV002280712] Chr18:61289055..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q21.32-23(chr18:58305972-78014123) copy number loss not specified [RCV002052647] Chr18:58305972..78014123 [GRCh37]
Chr18:18q21.32-23		 pathogenic
GRCh37/hg19 18q22.3(chr18:71087678-72655732)x3 copy number gain not provided [RCV001834312] Chr18:71087678..72655732 [GRCh37]
Chr18:18q22.3		 uncertain significance
GRCh37/hg19 18q22.3(chr18:70320462-72387913) copy number gain not specified [RCV002052661] Chr18:70320462..72387913 [GRCh37]
Chr18:18q22.3		 uncertain significance
GRCh37/hg19 18q21.2-23(chr18:52675201-78014123) copy number loss not specified [RCV002052641] Chr18:52675201..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:53309113-78014123) copy number loss not specified [RCV002052646] Chr18:53309113..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q22.3-23(chr18:70333866-78014123) copy number loss not specified [RCV002052662] Chr18:70333866..78014123 [GRCh37]
Chr18:18q22.3-23		 pathogenic
Single allele deletion Pulmonary valve stenosis [RCV002247713] Chr18:69541066..80373285 [GRCh38]
Chr18:18q22.2-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) copy number gain Trisomy 18 [RCV002280660] Chr18:1..78077248 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q22.3(chr18:70908956-72391740)x3 copy number gain not provided [RCV002473788] Chr18:70908956..72391740 [GRCh37]
Chr18:18q22.3		 uncertain significance
GRCh37/hg19 18q22.1-23(chr18:66530142-78014123)x1 copy number loss not provided [RCV002472600] Chr18:66530142..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:61520071-78014123)x1 copy number loss not provided [RCV002472513] Chr18:61520071..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:53624405-78014123)x1 copy number loss not provided [RCV002473956] Chr18:53624405..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q22.3(chr18:68799420-72639955)x3 copy number gain not provided [RCV002475565] Chr18:68799420..72639955 [GRCh37]
Chr18:18q22.3		 uncertain significance
NM_001174123.2(C18orf63):c.1708G>C (p.Glu570Gln) single nucleotide variant Inborn genetic diseases [RCV002969773] Chr18:74353975 [GRCh38]
Chr18:72021210 [GRCh37]
Chr18:18q22.3		 uncertain significance
NM_001174123.2(C18orf63):c.1042G>A (p.Ala348Thr) single nucleotide variant Inborn genetic diseases [RCV003004520] Chr18:74353309 [GRCh38]
Chr18:72020544 [GRCh37]
Chr18:18q22.3		 uncertain significance
NM_001174123.2(C18orf63):c.1499C>G (p.Ala500Gly) single nucleotide variant Inborn genetic diseases [RCV003003610] Chr18:74353766 [GRCh38]
Chr18:72021001 [GRCh37]
Chr18:18q22.3		 uncertain significance
GRCh37/hg19 18q22.1-23(chr18:66459747-78012829)x1 copy number loss Deletion of long arm of chromosome 18 [RCV003225711] Chr18:66459747..78012829 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:66057406-78014123) copy number loss Deletion of long arm of chromosome 18 [RCV003319595] Chr18:66057406..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:63476940-77960815)x1 copy number loss not provided [RCV003326989] Chr18:63476940..77960815 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:60771809-78014123)x1 copy number loss not provided [RCV003483341] Chr18:60771809..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q22.3-23(chr18:71401603-78014123)x1 copy number loss not provided [RCV003483343] Chr18:71401603..78014123 [GRCh37]
Chr18:18q22.3-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:48766173-78014123)x1 copy number loss not specified [RCV003986103] Chr18:48766173..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q22.3-23(chr18:69968033-78014123)x1 copy number loss not specified [RCV003987276] Chr18:69968033..78014123 [GRCh37]
Chr18:18q22.3-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:63427506-78014123)x1 copy number loss not specified [RCV003987279] Chr18:63427506..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q21.31-23(chr18:55363398-78014123)x1 copy number loss not specified [RCV003987273] Chr18:55363398..78014123 [GRCh37]
Chr18:18q21.31-23		 pathogenic
GRCh37/hg19 18q22.3(chr18:69888150-72001217)x1 copy number loss not specified [RCV003987285] Chr18:69888150..72001217 [GRCh37]
Chr18:18q22.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:923
Count of miRNA genes:585
Interacting mature miRNAs:637
Transcripts:ENST00000579455
Prediction methods:Miranda
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
SHGC-147382  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371871,982,406 - 71,982,693UniSTSGRCh37
Build 361870,133,386 - 70,133,673RGDNCBI36
Celera1868,849,751 - 68,850,038RGD
Cytogenetic Map18q22.3UniSTS
HuRef1868,714,641 - 68,714,928UniSTS
TNG Radiation Hybrid Map1829788.0UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage
High
Medium 160 1
Low 2 1 1 2 1 14 221 64 2
Below cutoff 346 371 213 89 255 42 762 303 718 111 142 456 47 426 399

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000579455   ⟹   ENSP00000464330
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1874,315,839 - 74,359,189 (+)Ensembl
RefSeq Acc Id: NM_001174123   ⟹   NP_001167594
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381874,315,839 - 74,359,189 (+)NCBI
GRCh371871,983,110 - 72,026,422 (+)RGD
Celera1868,850,455 - 68,893,768 (+)RGD
HuRef1868,715,345 - 68,758,653 (+)RGD
CHM1_11871,978,309 - 72,021,621 (+)NCBI
T2T-CHM13v2.01874,543,390 - 74,586,735 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001167594 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein CAH18203 (Get FASTA)   NCBI Sequence Viewer  
  CBH19268 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000464330
  ENSP00000464330.2
GenBank Protein Q68DL7 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001167594   ⟸   NM_001174123
- UniProtKB: A6NME8 (UniProtKB/Swiss-Prot),   Q68DL7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000464330   ⟸   ENST00000579455

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q68DL7-F1-model_v2 AlphaFold Q68DL7 1-685 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:40037 AgrOrtholog
COSMIC C18orf63 COSMIC
Ensembl Genes ENSG00000206043 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000579455 ENTREZGENE
  ENST00000579455.2 UniProtKB/Swiss-Prot
GTEx ENSG00000206043 GTEx
HGNC ID HGNC:40037 ENTREZGENE
Human Proteome Map C18orf63 Human Proteome Map
InterPro DUF4708 UniProtKB/Swiss-Prot
KEGG Report hsa:644041 UniProtKB/Swiss-Prot
NCBI Gene 644041 ENTREZGENE
PANTHER GENE, 17266-RELATED UniProtKB/Swiss-Prot
  PTHR28495 UniProtKB/Swiss-Prot
Pfam DUF4708 UniProtKB/Swiss-Prot
PharmGKB PA166049057 PharmGKB
UniProt A6NME8 ENTREZGENE
  CR063_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A6NME8 UniProtKB/Swiss-Prot