CYFIP1 (cytoplasmic FMR1 interacting protein 1) - 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 QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) RatMine GViewer (Genome Viewer) Overgo Probe Designer VCMap
Aging & Age-Related Disease Cancer Cardiovascular Disease COVID-19 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 PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) 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 Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: CYFIP1 (cytoplasmic FMR1 interacting protein 1) Homo sapiens
Analyze
Symbol: CYFIP1
Name: cytoplasmic FMR1 interacting protein 1
RGD ID: 1321175
HGNC Page HGNC
Description: Contributes to small GTPase binding activity. Involved in several processes, including Rac protein signal transduction; axon extension; and positive regulation of cellular component organization. Located in extracellular exosome and focal adhesion. Part of SCAR complex. Implicated in autism spectrum disorder and schizophrenia. Biomarker of Schaaf-Yang syndrome; autism spectrum disorder; and temporal lobe epilepsy.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cytoplasmic FMR1-interacting protein 1; cytoplasmic FMRP interacting protein 1; FLJ45151; P140SRA-1; selective hybridizing clone; SHYC; specifically Rac1-associated protein 1; SRA-1; SRA1
RGD Orthologs
Mouse
Rat
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
GRCh381522,867,052 - 22,980,898 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1522,867,052 - 22,981,063 (-)EnsemblGRCh38hg38GRCh38
GRCh371522,892,170 - 23,006,016 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361520,444,125 - 20,555,044 (+)NCBINCBI36hg18NCBI36
Build 341520,444,124 - 20,555,043NCBI
Celera151,376,209 - 1,487,232 (-)NCBI
Cytogenetic Map15q11.2NCBI
HuRef151,205,387 - 1,315,987 (+)NCBIHuRef
CHM1_11522,841,725 - 22,952,892 (+)NCBICHM1_1
T2T-CHM13v2.01520,538,904 - 20,652,761 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:7584044   PMID:8889548   PMID:9417078   PMID:9463375   PMID:11438699   PMID:12477932   PMID:14508708   PMID:14676191   PMID:14702039   PMID:15048123   PMID:15294869   PMID:15296760  
PMID:15489334   PMID:16055720   PMID:16260607   PMID:16344560   PMID:16751776   PMID:16982806   PMID:17519220   PMID:18560548   PMID:18805096   PMID:19363480   PMID:19524508   PMID:20228810  
PMID:20458337   PMID:20811636   PMID:21107423   PMID:21382349   PMID:21423176   PMID:21873635   PMID:21875946   PMID:21946561   PMID:21988832   PMID:22863883   PMID:23533145   PMID:24163370  
PMID:24439377   PMID:24550385   PMID:24722188   PMID:24996170   PMID:25048004   PMID:25311365   PMID:25315684   PMID:25796446   PMID:25921289   PMID:26186194   PMID:26344197   PMID:26496610  
PMID:26638075   PMID:26725010   PMID:26779626   PMID:26824476   PMID:26843638   PMID:27173435   PMID:27351196   PMID:27432794   PMID:27505670   PMID:27527252   PMID:27684187   PMID:28183735  
PMID:28214564   PMID:28254235   PMID:28410392   PMID:28514442   PMID:28515276   PMID:28675297   PMID:28846114   PMID:28949297   PMID:29117863   PMID:29180619   PMID:29212245   PMID:29467282  
PMID:29507755   PMID:29509190   PMID:29534591   PMID:29568061   PMID:29706651   PMID:29752658   PMID:29955894   PMID:29992499   PMID:30442766   PMID:30455355   PMID:30462309   PMID:30471916  
PMID:30619736   PMID:30890647   PMID:30948266   PMID:31048545   PMID:31067453   PMID:31091453   PMID:31182584   PMID:31198525   PMID:31202490   PMID:31343991   PMID:31527615   PMID:31705895  
PMID:31871319   PMID:31950832   PMID:31980649   PMID:31995728   PMID:32062451   PMID:32203420   PMID:32235678   PMID:32239614   PMID:32322062   PMID:32460013   PMID:32814053   PMID:32814769  
PMID:33545068   PMID:33853758   PMID:33961781   PMID:34031371   PMID:34079125   PMID:34327661   PMID:34373451   PMID:35271311  


Genomics

Comparative Map Data
CYFIP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381522,867,052 - 22,980,898 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1522,867,052 - 22,981,063 (-)EnsemblGRCh38hg38GRCh38
GRCh371522,892,170 - 23,006,016 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361520,444,125 - 20,555,044 (+)NCBINCBI36hg18NCBI36
Build 341520,444,124 - 20,555,043NCBI
Celera151,376,209 - 1,487,232 (-)NCBI
Cytogenetic Map15q11.2NCBI
HuRef151,205,387 - 1,315,987 (+)NCBIHuRef
CHM1_11522,841,725 - 22,952,892 (+)NCBICHM1_1
T2T-CHM13v2.01520,538,904 - 20,652,761 (-)NCBI
Cyfip1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39755,491,556 - 55,582,381 (+)NCBIGRCm39mm39
GRCm39 Ensembl755,491,493 - 55,582,350 (+)Ensembl
GRCm38755,842,022 - 55,932,633 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl755,841,745 - 55,932,602 (+)EnsemblGRCm38mm10GRCm38
MGSCv37763,097,441 - 63,188,003 (+)NCBIGRCm37mm9NCBIm37
MGSCv36755,739,875 - 55,798,505 (+)NCBImm8
Celera753,195,732 - 53,286,248 (+)NCBICelera
Cytogenetic Map7B5NCBI
Cyfip1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21106,710,924 - 106,799,393 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1106,711,016 - 106,799,386 (+)Ensembl
Rnor_6.01114,258,773 - 114,347,138 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1114,258,719 - 114,347,137 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01115,265,128 - 115,353,515 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41107,245,993 - 107,334,337 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11107,324,324 - 107,412,679 (+)NCBI
Celera1100,921,447 - 101,009,775 (+)NCBICelera
Cytogenetic Map1q22NCBI
CYFIP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11520,462,755 - 20,573,684 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1520,462,811 - 20,573,684 (+)Ensemblpanpan1.1panPan2
CYFIP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1332,096,471 - 32,170,107 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl332,097,037 - 32,187,781 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha334,509,239 - 34,585,945 (+)NCBI
ROS_Cfam_1.0332,162,887 - 32,239,605 (+)NCBI
ROS_Cfam_1.0 Ensembl332,117,281 - 32,240,269 (+)Ensembl
UMICH_Zoey_3.1331,650,943 - 31,773,999 (+)NCBI
UNSW_CanFamBas_1.0331,945,859 - 32,022,546 (+)NCBI
UU_Cfam_GSD_1.0332,056,552 - 32,133,289 (+)NCBI
Cyfip1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640120,416,388 - 120,482,622 (+)NCBI
SpeTri2.0NW_00493647138,264,455 - 38,331,995 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CYFIP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.11532,064,431 - 32,175,095 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
CYFIP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12653,562,105 - 53,673,544 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl2653,595,767 - 53,672,977 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605436,289,010 - 36,405,036 (+)NCBIVero_WHO_p1.0
Cyfip1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248962,723,462 - 2,800,113 (-)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_0046248962,726,622 - 2,774,671 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
D15S1035  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371522,908,578 - 22,908,827UniSTSGRCh37
Build 361520,460,019 - 20,460,268RGDNCBI36
Celera151,471,089 - 1,471,338RGD
Cytogenetic Map15q11UniSTS
HuRef151,221,218 - 1,221,451UniSTS
Marshfield Genetic Map15 RGD
Marshfield Genetic Map150.0UniSTS
Genethon Genetic Map150.0UniSTS
TNG Radiation Hybrid Map15972.0UniSTS
GeneMap99-GB4 RH Map1511.54UniSTS
NCBI RH Map1510.0UniSTS
D15S1260  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371523,003,413 - 23,003,542UniSTSGRCh37
Build 361520,554,854 - 20,554,983RGDNCBI36
Celera151,376,270 - 1,376,399RGD
Cytogenetic Map15q11UniSTS
HuRef151,315,797 - 1,315,926UniSTS
GeneMap99-G3 RH Map158.0UniSTS
RH1641  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371523,003,304 - 23,003,539UniSTSGRCh37
Build 361520,554,745 - 20,554,980RGDNCBI36
Celera151,376,273 - 1,376,508RGD
Cytogenetic Map15q11UniSTS
HuRef151,315,688 - 1,315,923UniSTS
GeneMap99-GB4 RH Map1523.75UniSTS
G10722  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371523,003,300 - 23,003,452UniSTSGRCh37
Build 361520,554,741 - 20,554,893RGDNCBI36
Celera151,376,360 - 1,376,512RGD
Cytogenetic Map15q11UniSTS
HuRef151,315,684 - 1,315,836UniSTS
RH94274  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371523,004,251 - 23,004,385UniSTSGRCh37
Build 361520,555,692 - 20,555,826RGDNCBI36
Celera151,375,427 - 1,375,561RGD
Cytogenetic Map15q11UniSTS
Cytogenetic Map15q11.2UniSTS
HuRef151,316,631 - 1,316,765UniSTS
GeneMap99-GB4 RH Map1523.86UniSTS
RH91787  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371523,005,247 - 23,005,430UniSTSGRCh37
Build 361520,556,688 - 20,556,871RGDNCBI36
Celera151,374,382 - 1,374,565RGD
Cytogenetic Map15q11UniSTS
Cytogenetic Map15q11.2UniSTS
HuRef151,317,630 - 1,317,813UniSTS
GeneMap99-GB4 RH Map1519.24UniSTS
RH64908  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371523,005,488 - 23,005,609UniSTSGRCh37
Build 361520,556,929 - 20,557,050RGDNCBI36
Celera151,374,203 - 1,374,324RGD
Cytogenetic Map15q11UniSTS
Cytogenetic Map15q11.2UniSTS
HuRef151,317,871 - 1,317,992UniSTS
G43583  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371523,004,737 - 23,004,936UniSTSGRCh37
Build 361520,556,178 - 20,556,377RGDNCBI36
Celera151,374,876 - 1,375,075RGD
Cytogenetic Map15q11UniSTS
Cytogenetic Map15q11.2UniSTS
HuRef151,317,120 - 1,317,319UniSTS
SHGC-84535  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371522,990,628 - 22,990,907UniSTSGRCh37
Build 361520,542,069 - 20,542,348RGDNCBI36
Celera151,389,005 - 1,389,284RGD
Cytogenetic Map15q11UniSTS
HuRef151,303,157 - 1,303,436UniSTS
TNG Radiation Hybrid Map151004.0UniSTS
SHGC-85095  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371522,972,246 - 22,972,357UniSTSGRCh37
Build 361520,523,687 - 20,523,798RGDNCBI36
Celera151,407,555 - 1,407,666RGD
Cytogenetic Map15q11UniSTS
HuRef9109,245,795 - 109,245,906UniSTS
TNG Radiation Hybrid Map15992.0UniSTS
SHGC-81768  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371522,982,171 - 22,982,490UniSTSGRCh37
Build 361520,533,612 - 20,533,931RGDNCBI36
Celera151,397,422 - 1,397,741RGD
Cytogenetic Map15q11UniSTS
HuRef151,294,701 - 1,295,020UniSTS
TNG Radiation Hybrid Map151000.0UniSTS
D15S18  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371522,925,501 - 22,925,647UniSTSGRCh37
Build 361520,476,942 - 20,477,088RGDNCBI36
Celera151,454,266 - 1,454,412RGD
Cytogenetic Map15q11UniSTS
HuRef151,238,126 - 1,238,272UniSTS
D15S542  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371522,908,588 - 22,908,738UniSTSGRCh37
Build 361520,460,029 - 20,460,179RGDNCBI36
Celera151,471,178 - 1,471,328RGD
Cytogenetic Map15q11UniSTS
HuRef151,221,228 - 1,221,366UniSTS
D15S714E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371523,005,189 - 23,005,429UniSTSGRCh37
Build 361520,556,630 - 20,556,870RGDNCBI36
Celera151,374,383 - 1,374,623RGD
Cytogenetic Map15q11UniSTS
Cytogenetic Map15q11.2UniSTS
HuRef151,317,572 - 1,317,812UniSTS
NIB1540  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371523,005,404 - 23,005,567UniSTSGRCh37
Build 361520,556,845 - 20,557,008RGDNCBI36
Celera151,374,245 - 1,374,408RGD
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map15q11UniSTS
HuRef151,317,787 - 1,317,950UniSTS
GeneMap99-GB4 RH Map1522.56UniSTS
Whitehead-RH Map150.0UniSTS
NCBI RH Map1510.0UniSTS
HSC15C102  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371523,005,167 - 23,005,417UniSTSGRCh37
Build 361520,556,608 - 20,556,858RGDNCBI36
Celera151,374,395 - 1,374,645RGD
Cytogenetic Map15q11UniSTS
Cytogenetic Map15q11.2UniSTS
HuRef151,317,550 - 1,317,800UniSTS
CYFIP1_3298  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371523,002,941 - 23,003,775UniSTSGRCh37
Build 361520,554,382 - 20,555,216RGDNCBI36
Celera151,376,037 - 1,376,871RGD
HuRef151,315,325 - 1,316,159UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4572
Count of miRNA genes:1225
Interacting mature miRNAs:1560
Transcripts:ENST00000313077, ENST00000435939, ENST00000557859, ENST00000557890, ENST00000558430, ENST00000558549, ENST00000558826, ENST00000559393, ENST00000560848, ENST00000561020, ENST00000561185, ENST00000561263, ENST00000561274, ENST00000561296
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.


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 entire extraembryonic component
High
Medium 2343 1801 1318 296 1021 138 3870 1393 2666 158 1254 1460 171 1204 2340 4
Low 8 1179 166 137 715 137 448 799 998 24 6 3 448
Below cutoff 4 39 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_054889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001033028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001287810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC011767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC135069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC270126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC270170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC270230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL357618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY763577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY763578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY763579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY763580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF979687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB250660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D38549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA317955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ534819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000557890
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1522,873,681 - 22,875,462 (-)Ensembl
RefSeq Acc Id: ENST00000561263   ⟹   ENSP00000453060
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1522,872,637 - 22,875,235 (-)Ensembl
RefSeq Acc Id: ENST00000610365   ⟹   ENSP00000478779
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1522,869,466 - 22,980,352 (-)Ensembl
RefSeq Acc Id: ENST00000611832   ⟹   ENSP00000478377
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1522,943,289 - 22,980,382 (-)Ensembl
RefSeq Acc Id: ENST00000612288   ⟹   ENSP00000479802
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1522,914,827 - 22,926,015 (-)Ensembl
RefSeq Acc Id: ENST00000613006   ⟹   ENSP00000480307
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1522,943,259 - 22,981,063 (-)Ensembl
RefSeq Acc Id: ENST00000617556   ⟹   ENSP00000480525
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1522,867,125 - 22,917,313 (-)Ensembl
RefSeq Acc Id: ENST00000617928   ⟹   ENSP00000481038
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1522,867,052 - 22,980,368 (-)Ensembl
RefSeq Acc Id: ENST00000619037   ⟹   ENSP00000480596
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1522,944,597 - 22,980,348 (-)Ensembl
RefSeq Acc Id: ENST00000619290
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1522,903,758 - 22,915,103 (-)Ensembl
RefSeq Acc Id: ENST00000619348
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1522,869,466 - 22,905,440 (-)Ensembl
RefSeq Acc Id: ENST00000621036
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1522,943,229 - 22,946,987 (-)Ensembl
RefSeq Acc Id: ENST00000621105
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1522,909,194 - 22,912,386 (-)Ensembl
RefSeq Acc Id: ENST00000622576   ⟹   ENSP00000482459
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1522,916,483 - 22,917,909 (-)Ensembl
RefSeq Acc Id: NM_001033028   ⟹   NP_001028200
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381522,867,052 - 22,917,313 (-)NCBI
GRCh371522,892,667 - 23,003,603 (+)NCBI
Build 361520,507,196 - 20,555,044 (+)NCBI Archive
Celera151,376,209 - 1,487,232 (-)RGD
HuRef151,205,352 - 1,315,987 (+)NCBI
CHM1_11522,905,044 - 22,952,892 (+)NCBI
T2T-CHM13v2.01520,538,904 - 20,589,168 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001287810   ⟹   NP_001274739
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381522,867,052 - 22,980,368 (-)NCBI
HuRef151,205,352 - 1,315,987 (+)NCBI
CHM1_11522,841,668 - 22,952,892 (+)NCBI
T2T-CHM13v2.01520,538,904 - 20,652,231 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001324119   ⟹   NP_001311048
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381522,867,052 - 22,980,898 (-)NCBI
CHM1_11522,841,211 - 22,952,892 (+)NCBI
T2T-CHM13v2.01520,538,904 - 20,652,761 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001324120   ⟹   NP_001311049
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381522,867,052 - 22,980,849 (-)NCBI
CHM1_11522,841,260 - 22,952,892 (+)NCBI
T2T-CHM13v2.01520,538,904 - 20,652,712 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001324122   ⟹   NP_001311051
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381522,867,052 - 22,980,368 (-)NCBI
CHM1_11522,841,668 - 22,952,892 (+)NCBI
T2T-CHM13v2.01520,538,904 - 20,652,231 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001324123   ⟹   NP_001311052
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381522,867,052 - 22,980,368 (-)NCBI
CHM1_11522,841,668 - 22,952,892 (+)NCBI
T2T-CHM13v2.01520,538,904 - 20,652,231 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001324124   ⟹   NP_001311053
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381522,867,052 - 22,980,368 (-)NCBI
CHM1_11522,841,668 - 22,952,892 (+)NCBI
T2T-CHM13v2.01520,538,904 - 20,652,231 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001324125   ⟹   NP_001311054
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381522,867,052 - 22,980,368 (-)NCBI
CHM1_11522,841,668 - 22,952,892 (+)NCBI
T2T-CHM13v2.01520,538,904 - 20,652,231 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001324126   ⟹   NP_001311055
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381522,867,052 - 22,980,368 (-)NCBI
CHM1_11522,841,668 - 22,952,892 (+)NCBI
T2T-CHM13v2.01520,538,904 - 20,652,231 (-)NCBI
Sequence:
RefSeq Acc Id: NM_014608   ⟹   NP_055423
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381522,867,052 - 22,980,368 (-)NCBI
GRCh371522,892,667 - 23,003,603 (+)NCBI
Build 361520,444,125 - 20,555,044 (+)NCBI Archive
Celera151,376,209 - 1,487,232 (-)RGD
HuRef151,205,352 - 1,315,987 (+)NCBI
CHM1_11522,841,668 - 22,952,892 (+)NCBI
T2T-CHM13v2.01520,538,904 - 20,652,231 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_055423   ⟸   NM_014608
- Peptide Label: isoform a
- UniProtKB: Q7L576 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001028200   ⟸   NM_001033028
- Peptide Label: isoform b
- UniProtKB: Q7L576 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001274739   ⟸   NM_001287810
- Peptide Label: isoform a
- UniProtKB: Q7L576 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001311048   ⟸   NM_001324119
- Peptide Label: isoform c
- Sequence:
RefSeq Acc Id: NP_001311049   ⟸   NM_001324120
- Peptide Label: isoform a
- UniProtKB: Q7L576 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001311052   ⟸   NM_001324123
- Peptide Label: isoform a
- UniProtKB: Q7L576 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001311051   ⟸   NM_001324122
- Peptide Label: isoform d
- Sequence:
RefSeq Acc Id: NP_001311055   ⟸   NM_001324126
- Peptide Label: isoform g
- Sequence:
RefSeq Acc Id: NP_001311053   ⟸   NM_001324124
- Peptide Label: isoform e
- Sequence:
RefSeq Acc Id: NP_001311054   ⟸   NM_001324125
- Peptide Label: isoform f
- Sequence:
RefSeq Acc Id: ENSP00000482459   ⟸   ENST00000622576
RefSeq Acc Id: ENSP00000478779   ⟸   ENST00000610365
RefSeq Acc Id: ENSP00000478377   ⟸   ENST00000611832
RefSeq Acc Id: ENSP00000479802   ⟸   ENST00000612288
RefSeq Acc Id: ENSP00000480307   ⟸   ENST00000613006
RefSeq Acc Id: ENSP00000453060   ⟸   ENST00000561263
RefSeq Acc Id: ENSP00000481038   ⟸   ENST00000617928
RefSeq Acc Id: ENSP00000480525   ⟸   ENST00000617556
RefSeq Acc Id: ENSP00000480596   ⟸   ENST00000619037
Protein Domains
DUF1394

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q7L576-F1-model_v2 AlphaFold Q7L576 1-1253 view protein structure

Promoters
RGD ID:6792199
Promoter ID:HG_KWN:20629
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000251136,   UC001YUT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361520,443,824 - 20,444,324 (+)MPROMDB
RGD ID:7228847
Promoter ID:EPDNEW_H20169
Type:initiation region
Name:CYFIP1_2
Description:cytoplasmic FMR1 interacting protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20170  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381522,917,224 - 22,917,284EPDNEW
RGD ID:7228849
Promoter ID:EPDNEW_H20170
Type:initiation region
Name:CYFIP1_1
Description:cytoplasmic FMR1 interacting protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20169  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381522,980,344 - 22,980,404EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000050782] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:20249886..26829558 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2(chr15:22786765-23066575)x1 copy number loss See cases [RCV000133898] Chr15:22786765..23066575 [GRCh38]
Chr15:22698522..23086303 [GRCh37]
Chr15:20249886..20637744 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2(chr15:22655582-23174546)x3 copy number gain See cases [RCV000050332] Chr15:22655582..23174546 [GRCh38]
Chr15:22698522..23217514 [GRCh37]
Chr15:20249886..20768955 [NCBI36]
Chr15:15q11.2		 benign|uncertain significance|conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1 copy number loss See cases [RCV000050334] Chr15:22655582..23066575 [GRCh38]
Chr15:22698522..23217514 [GRCh37]
Chr15:20249886..20768955 [NCBI36]
Chr15:15q11.2		 benign|uncertain significance|conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1 copy number loss See cases [RCV000050342] Chr15:22655582..23066575 [GRCh38]
Chr15:22765628..23217514 [GRCh37]
Chr15:20316992..20768955 [NCBI36]
Chr15:15q11.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28785371)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050781]|Global developmental delay [RCV000050782]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050781]|See cases [RCV000050782] Chr15:23319714..28785371 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000050783] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:20249886..26829558 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2(chr15:22572809-23174546)x1 copy number loss See cases [RCV000050507] Chr15:22572809..23174546 [GRCh38]
Chr15:22698522..23300287 [GRCh37]
Chr15:20249886..20851728 [NCBI36]
Chr15:15q11.2		 benign|uncertain significance|conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22726969-23107440)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050743]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050743]|See cases [RCV000050743] Chr15:22726969..23107440 [GRCh38]
Chr15:22765628..23146132 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22572809-23066575)x1 copy number loss See cases [RCV000051236] Chr15:22572809..23066575 [GRCh38]
Chr15:22669052..23300287 [GRCh37]
Chr15:20220416..20851728 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1 copy number loss See cases [RCV000051238] Chr15:22655582..23066575 [GRCh38]
Chr15:22756505..23217514 [GRCh37]
Chr15:20307869..20768955 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22775968-23066575)x1 copy number loss See cases [RCV000051245] Chr15:22775968..23066575 [GRCh38]
Chr15:22765628..23097100 [GRCh37]
Chr15:20316992..20648541 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22358243-23066575)x1 copy number loss See cases [RCV000051246] Chr15:22358243..23066575 [GRCh38]
Chr15:22765628..23739406 [GRCh37]
Chr15:20316992..21290499 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22632213-23066575)x1 copy number loss See cases [RCV000051247] Chr15:22632213..23066575 [GRCh38]
Chr15:22779922..23240883 [GRCh37]
Chr15:20331286..20792324 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22750921-23066575)x1 copy number loss See cases [RCV000051248] Chr15:22750921..23066575 [GRCh38]
Chr15:22779922..23122189 [GRCh37]
Chr15:20331286..20673630 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22559691-23066575)x1 copy number loss See cases [RCV000051249] Chr15:22559691..23066575 [GRCh38]
Chr15:22779922..23313405 [GRCh37]
Chr15:20331286..20864846 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22484473-23066575)x1 copy number loss See cases [RCV000051250] Chr15:22484473..23066575 [GRCh38]
Chr15:22779922..23388623 [GRCh37]
Chr15:20331286..20940064 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22572658-23066575)x4 copy number gain See cases [RCV000051311] Chr15:22572658..23066575 [GRCh38]
Chr15:22698322..23300438 [GRCh37]
Chr15:20249686..20851879 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.1-13.2(chr15:20002460-30349193)x3 copy number gain See cases [RCV000052339] Chr15:20002460..30349193 [GRCh38]
Chr15:20207713..30641396 [GRCh37]
Chr15:18467727..28428688 [NCBI36]
Chr15:15q11.1-13.2		 pathogenic
GRCh38/hg38 15q11.1-13.3(chr15:20002460-32121422)x3 copy number gain See cases [RCV000052340] Chr15:20002460..32121422 [GRCh38]
Chr15:20207713..32413623 [GRCh37]
Chr15:18467727..30200915 [NCBI36]
Chr15:15q11.1-13.3		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22030646-28694952)x1 copy number loss See cases [RCV000052345] Chr15:22030646..28694952 [GRCh38]
Chr15:22318597..28940098 [GRCh37]
Chr15:19819961..26739139 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.2(chr15:22144677-30349193)x1 copy number loss See cases [RCV000052348] Chr15:22144677..30349193 [GRCh38]
Chr15:22432628..30641396 [GRCh37]
Chr15:19933992..28428688 [NCBI36]
Chr15:15q11.2-13.2		 pathogenic
GRCh38/hg38 15q11.1-13.1(chr15:19879749-28918517)x3 copy number gain See cases [RCV000052300] Chr15:19879749..28918517 [GRCh38]
Chr15:20085002..29210720 [GRCh37]
Chr15:18345016..26998012 [NCBI36]
Chr15:15q11.1-13.1		 pathogenic
GRCh38/hg38 15q11.1-13.1(chr15:19879749-28702163)x4 copy number gain See cases [RCV000052301] Chr15:19879749..28702163 [GRCh38]
Chr15:20085002..28947309 [GRCh37]
Chr15:18345016..26746350 [NCBI36]
Chr15:15q11.1-13.1		 pathogenic
GRCh38/hg38 15q11.1-13.1(chr15:19879750-27865713)x3 copy number gain See cases [RCV000052305] Chr15:19879750..27865713 [GRCh38]
Chr15:20085003..28178425 [GRCh37]
Chr15:18345017..25852020 [NCBI36]
Chr15:15q11.1-13.1		 pathogenic
GRCh38/hg38 15q11.1-13.1(chr15:19905469-28163751)x3 copy number gain See cases [RCV000052308] Chr15:19905469..28163751 [GRCh38]
Chr15:20110722..28408897 [GRCh37]
Chr15:18370736..26082492 [NCBI36]
Chr15:15q11.1-13.1		 pathogenic
GRCh38/hg38 15q11.1-13.1(chr15:20046515-28385894)x3 copy number gain See cases [RCV000053207] Chr15:20046515..28385894 [GRCh38]
Chr15:20251768..28631040 [GRCh37]
Chr15:18511782..26304635 [NCBI36]
Chr15:15q11.1-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053210]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053210]|See cases [RCV000053210] Chr15:22358243..28481444 [GRCh38]
Chr15:22698322..28940239 [GRCh37]
Chr15:20249686..26739280 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain Renal adysplasia [RCV000053224]|See cases [RCV000053224] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..30653936 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000053229] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29085896 [GRCh37]
Chr15:20249886..26884937 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053230]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053230]|See cases [RCV000053230] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..30366124 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000053231] Chr15:22358243..28481444 [GRCh38]
Chr15:22765428..28940239 [GRCh37]
Chr15:20316792..26739280 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
NM_014608.3(CYFIP1):c.886G>A (p.Asp296Asn) single nucleotide variant Malignant melanoma [RCV000062839] Chr15:22937118 [GRCh38]
Chr15:22935950 [GRCh37]
Chr15:20487391 [NCBI36]
Chr15:15q11.2		 not provided
GRCh37/hg19 15q11.2(chr15:22753733-23226254)x3 copy number gain See cases [RCV000663387] Chr15:22753733..23226254 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22753733-23140114)x3 copy number gain See cases [RCV000663383] Chr15:22753733..23140114 [GRCh37]
Chr15:15q11.2		 uncertain significance
NM_001287810.1(CYFIP1):c.-125-6223G>C single nucleotide variant Lung cancer [RCV000099296] Chr15:22954252 [GRCh38]
Chr15:22918816 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2-12(chr15:22833525-27193380)x4 copy number gain not provided [RCV001310299] Chr15:22833525..27193380 [GRCh37]
Chr15:15q11.2-12		 pathogenic
Single allele deletion Intellectual disability [RCV001293371] Chr15:20612840..23272733 [GRCh37]
Chr15:15q11.1-11.2		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 copy number gain See cases [RCV000050781] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:20249886..26829558 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2(chr15:22726969-23066575)x3 copy number gain See cases [RCV000050743] Chr15:22726969..23066575 [GRCh38]
Chr15:22765628..23146132 [GRCh37]
Chr15:20316992..20697573 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22787972-23066575)x3 copy number gain See cases [RCV000051330] Chr15:22787972..23066575 [GRCh38]
Chr15:22765628..23085096 [GRCh37]
Chr15:20316992..20636537 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22572809-23066575)x1 copy number loss See cases [RCV000133674] Chr15:22572809..23066575 [GRCh38]
Chr15:22765628..23300287 [GRCh37]
Chr15:20316992..20851728 [NCBI36]
Chr15:15q11.2		 benign|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22655582-23107440)x3 copy number gain See cases [RCV000133722] Chr15:22655582..23107440 [GRCh38]
Chr15:22765628..23217514 [GRCh37]
Chr15:20316992..20768955 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2(chr15:22612582-23066575)x1 copy number loss See cases [RCV000133685] Chr15:22612582..23066575 [GRCh38]
Chr15:22698522..23260514 [GRCh37]
Chr15:20249886..20811955 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2(chr15:22612582-23066575)x1 copy number loss See cases [RCV000133774] Chr15:22612582..23066575 [GRCh38]
Chr15:22765628..23260514 [GRCh37]
Chr15:20316992..20811955 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2(chr15:22572858-23012211)x3 copy number gain See cases [RCV000134443] Chr15:22572858..23012211 [GRCh38]
Chr15:22860857..23300238 [GRCh37]
Chr15:20412298..20851679 [NCBI36]
Chr15:15q11.2		 likely benign
GRCh38/hg38 15q11.2(chr15:22572858-23012211)x1 copy number loss See cases [RCV000134444] Chr15:22572858..23012211 [GRCh38]
Chr15:22860857..23300238 [GRCh37]
Chr15:15q11.2		 conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22655641-23012211)x1 copy number loss See cases [RCV000134448] Chr15:22655641..23012211 [GRCh38]
Chr15:22860857..23217455 [GRCh37]
Chr15:20412298..20768896 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22655583-23066575)x3 copy number gain See cases [RCV000134105] Chr15:22655583..23066575 [GRCh38]
Chr15:22765637..23217513 [GRCh37]
Chr15:20317001..20768954 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2(chr15:22655583-23107431)x1 copy number loss See cases [RCV000134106] Chr15:22655583..23107431 [GRCh38]
Chr15:22765637..23217513 [GRCh37]
Chr15:20317001..20768954 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22469457-23066575)x1 copy number loss See cases [RCV000134076] Chr15:22469457..23066575 [GRCh38]
Chr15:22765637..23403639 [GRCh37]
Chr15:20317001..20955080 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000134082] Chr15:22358243..28481444 [GRCh38]
Chr15:22652047..28705151 [GRCh37]
Chr15:20203411..26524679 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2(chr15:22786765-23066575)x1 copy number loss See cases [RCV000133960] Chr15:22786765..23066575 [GRCh38]
Chr15:22765628..23086303 [GRCh37]
Chr15:20316992..20637744 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2(chr15:22786765-23048726)x1 copy number loss See cases [RCV000133983] Chr15:22786765..23048726 [GRCh38]
Chr15:22824342..23086303 [GRCh37]
Chr15:20375706..20637744 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2(chr15:22572783-23066575)x1 copy number loss See cases [RCV000134798] Chr15:22572783..23066575 [GRCh38]
Chr15:22765637..23300313 [GRCh37]
Chr15:20317001..20851754 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22572783-23107431)x3 copy number gain See cases [RCV000134799] Chr15:22572783..23107431 [GRCh38]
Chr15:22765637..23300313 [GRCh37]
Chr15:20317001..20851754 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000134755] Chr15:22358243..28481444 [GRCh38]
Chr15:22765637..29085888 [GRCh37]
Chr15:20317001..26884929 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000134756] Chr15:22358243..28481444 [GRCh38]
Chr15:22765637..29085888 [GRCh37]
Chr15:20317001..26884929 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000135744] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29085896 [GRCh37]
Chr15:20249886..26884937 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 copy number gain See cases [RCV000135583] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..28940098 [GRCh37]
Chr15:20249886..26739139 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic|uncertain significance
GRCh38/hg38 15q11.2(chr15:22726969-23066575)x1 copy number loss See cases [RCV000135507] Chr15:22726969..23066575 [GRCh38]
Chr15:22765628..23146132 [GRCh37]
Chr15:20316992..20697573 [NCBI36]
Chr15:15q11.2		 conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22787972-23107440)x1 copy number loss See cases [RCV000135522] Chr15:22787972..23107440 [GRCh38]
Chr15:22765628..23085096 [GRCh37]
Chr15:20316992..20636537 [NCBI36]
Chr15:15q11.2		 pathogenic
GRCh38/hg38 15q11.2(chr15:22572809-23066575)x3 copy number gain See cases [RCV000135477] Chr15:22572809..23066575 [GRCh38]
Chr15:22698522..23300287 [GRCh37]
Chr15:20249886..20851728 [NCBI36]
Chr15:15q11.2		 conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22726999-23057280)x1 copy number loss See cases [RCV000136105] Chr15:22726999..23057280 [GRCh38]
Chr15:22815788..23146102 [GRCh37]
Chr15:20367152..20697543 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22358243-23006180)x3 copy number gain See cases [RCV000136131] Chr15:22358243..23006180 [GRCh38]
Chr15:22866888..23699760 [GRCh37]
Chr15:20418329..21250853 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2(chr15:22726969-23066575)x3 copy number gain See cases [RCV000136150] Chr15:22726969..23066575 [GRCh38]
Chr15:22698522..23146132 [GRCh37]
Chr15:20249886..20697573 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2(chr15:22787833-23066575)x3 copy number gain See cases [RCV000135982] Chr15:22787833..23066575 [GRCh38]
Chr15:22765637..23085235 [GRCh37]
Chr15:20317001..20636676 [NCBI36]
Chr15:15q11.2		 benign|likely benign|conflicting data from submitters
GRCh38/hg38 15q11.1-13.2(chr15:20480943-30217181)x3 copy number gain See cases [RCV000136964] Chr15:20480943..30217181 [GRCh38]
Chr15:20686196..30509384 [GRCh37]
Chr15:18946210..28296676 [NCBI36]
Chr15:15q11.1-13.2		 pathogenic
GRCh38/hg38 15q11.2(chr15:22787972-23066575)x1 copy number loss See cases [RCV000136747] Chr15:22787972..23066575 [GRCh38]
Chr15:22784523..23085096 [GRCh37]
Chr15:20335887..20636537 [NCBI36]
Chr15:15q11.2		 conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22655582-23057491)x3 copy number gain See cases [RCV000137201] Chr15:22655582..23057491 [GRCh38]
Chr15:22815577..23217514 [GRCh37]
Chr15:20366941..20768955 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 copy number gain See cases [RCV000138132] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..29006852 [GRCh37]
Chr15:20316992..26805893 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000138133] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..29006852 [GRCh37]
Chr15:20316992..26805893 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 copy number gain See cases [RCV000137945] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..28912057 [GRCh37]
Chr15:20316992..26711098 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic|likely benign
GRCh38/hg38 15q11.2(chr15:22623415-23066575)x1 copy number loss See cases [RCV000138439] Chr15:22623415..23066575 [GRCh38]
Chr15:22765628..23249681 [GRCh37]
Chr15:20316992..20801122 [NCBI36]
Chr15:15q11.2		 conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22782794-23066575)x1 copy number loss See cases [RCV000138344] Chr15:22782794..23066575 [GRCh38]
Chr15:22765628..23090274 [GRCh37]
Chr15:20316992..20641715 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22781888-23066575)x1 copy number loss See cases [RCV000139124] Chr15:22781888..23066575 [GRCh38]
Chr15:22765628..23091180 [GRCh37]
Chr15:20316992..20642621 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22658112-23102647)x1 copy number loss See cases [RCV000139932] Chr15:22658112..23102647 [GRCh38]
Chr15:22770421..23214984 [GRCh37]
Chr15:20321785..20766425 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000140240] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..28940098 [GRCh37]
Chr15:20316992..26739139 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000141251] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..28976193 [GRCh37]
Chr15:20316992..26775234 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000140871] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..29096442 [GRCh37]
Chr15:20316992..26895483 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:21581401-28332641)x3 copy number gain See cases [RCV000140619] Chr15:21581401..28332641 [GRCh38]
Chr15:22304596..28577787 [GRCh37]
Chr15:19805960..26251382 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.1-13.3(chr15:19840581-32621939)x4 copy number gain See cases [RCV000140623] Chr15:19840581..32621939 [GRCh38]
Chr15:20045834..32914140 [GRCh37]
Chr15:18305848..30701432 [NCBI36]
Chr15:15q11.1-13.3		 pathogenic
GRCh38/hg38 15q11.2(chr15:22790626-23102647)x1 copy number loss See cases [RCV000141818] Chr15:22790626..23102647 [GRCh38]
Chr15:22770421..23082442 [GRCh37]
Chr15:20321785..20633883 [NCBI36]
Chr15:15q11.2		 uncertain significance|conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22796648-23066575)x1 copy number loss See cases [RCV000141501] Chr15:22796648..23066575 [GRCh38]
Chr15:22765628..23076420 [GRCh37]
Chr15:20316992..20627861 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2(chr15:22790247-23066575)x1 copy number loss See cases [RCV000141457] Chr15:22790247..23066575 [GRCh38]
Chr15:22765628..23082821 [GRCh37]
Chr15:20316992..20634262 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2(chr15:22595661-23102647)x1 copy number loss See cases [RCV000142160] Chr15:22595661..23102647 [GRCh38]
Chr15:22770421..23277435 [GRCh37]
Chr15:20321785..20828876 [NCBI36]
Chr15:15q11.2		 uncertain significance|conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22590191-23102647)x1 copy number loss See cases [RCV000142110] Chr15:22590191..23102647 [GRCh38]
Chr15:22770421..23282905 [GRCh37]
Chr15:20321785..20834346 [NCBI36]
Chr15:15q11.2		 uncertain significance|conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22582277-23102647)x1 copy number loss See cases [RCV000142122] Chr15:22582277..23102647 [GRCh38]
Chr15:22770421..23290819 [GRCh37]
Chr15:20321785..20842260 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22612562-23066575)x1 copy number loss See cases [RCV000143040] Chr15:22612562..23066575 [GRCh38]
Chr15:22765637..23260534 [GRCh37]
Chr15:20317001..20811975 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22726999-23066575)x3 copy number gain See cases [RCV000143066] Chr15:22726999..23066575 [GRCh38]
Chr15:22765637..23146102 [GRCh37]
Chr15:20317001..20697543 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2(chr15:22693148-23066575)x1 copy number loss See cases [RCV000142918] Chr15:22693148..23066575 [GRCh38]
Chr15:22765628..23179948 [GRCh37]
Chr15:20316992..20731389 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22787972-23088545)x3 copy number gain See cases [RCV000142684] Chr15:22787972..23088545 [GRCh38]
Chr15:22784523..23085096 [GRCh37]
Chr15:20335887..20636537 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000142713] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..29085896 [GRCh37]
Chr15:20316992..26884937 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000142795] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..28912057 [GRCh37]
Chr15:20316992..26711098 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2(chr15:22590297-23102647)x1 copy number loss See cases [RCV000143282] Chr15:22590297..23102647 [GRCh38]
Chr15:22770421..23282799 [GRCh37]
Chr15:20321785..20834240 [NCBI36]
Chr15:15q11.2		 uncertain significance|conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22591732-23102647)x1 copy number loss See cases [RCV000143718] Chr15:22591732..23102647 [GRCh38]
Chr15:22770421..23281364 [GRCh37]
Chr15:20321785..20832805 [NCBI36]
Chr15:15q11.2		 likely benign|conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22790740-23102647)x1 copy number loss See cases [RCV000143689] Chr15:22790740..23102647 [GRCh38]
Chr15:22770421..23082328 [GRCh37]
Chr15:20321785..20633769 [NCBI36]
Chr15:15q11.2		 uncertain significance|conflicting data from submitters
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000148084] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29085896 [GRCh37]
Chr15:20249886..26884937 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 copy number gain See cases [RCV000148060] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:20249886..26829558 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000148061] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:20249886..26829558 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2(chr15:22581937-23102647)x1 copy number loss See cases [RCV000143552] Chr15:22581937..23102647 [GRCh38]
Chr15:22770421..23291159 [GRCh37]
Chr15:20321785..20842600 [NCBI36]
Chr15:15q11.2		 uncertain significance|conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22358243-23102647)x1 copy number loss See cases [RCV000143598] Chr15:22358243..23102647 [GRCh38]
Chr15:22770421..23682708 [GRCh37]
Chr15:20321785..21234149 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1 copy number loss See cases [RCV000148277] Chr15:22655582..23066575 [GRCh38]
Chr15:22698522..23217514 [GRCh37]
Chr15:20249886..20768955 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22655582-23174546)x3 copy number gain See cases [RCV000148278] Chr15:22655582..23174546 [GRCh38]
Chr15:22698522..23217514 [GRCh37]
Chr15:20249886..20768955 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1 copy number loss See cases [RCV000148283] Chr15:22655582..23066575 [GRCh38]
Chr15:22765628..23217514 [GRCh37]
Chr15:20316992..20768955 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22572809-23066575)x1 copy number loss See cases [RCV000148236] Chr15:22572809..23066575 [GRCh38]
Chr15:22698522..23300287 [GRCh37]
Chr15:20249886..20851728 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22698522-23198655)x1 copy number loss See cases [RCV000240240] Chr15:22698522..23198655 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2-12(chr15:20848460-27662530)x3 copy number gain See cases [RCV000240207] Chr15:20848460..27662530 [GRCh37]
Chr15:15q11.2-12		 pathogenic
GRCh37/hg19 15q11.2(chr15:22698522-23059487)x1 copy number loss See cases [RCV000240208] Chr15:22698522..23059487 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.1-13.3(chr15:20190548-32917857)x4 copy number gain See cases [RCV000240220] Chr15:20190548..32917857 [GRCh37]
Chr15:15q11.1-13.3		 pathogenic
GRCh37/hg19 15q11.2(chr15:22509195-23085096)x3 copy number gain See cases [RCV000051310] Chr15:22509195..23085096 [GRCh37]
Chr15:20010559..20636537 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22815306-23217514)x1 copy number loss See cases [RCV000239821] Chr15:22815306..23217514 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22815306-23086303)x1 copy number loss See cases [RCV000240230] Chr15:22815306..23086303 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22750305-23702085)x1 copy number loss See cases [RCV000207453] Chr15:22750305..23702085 [GRCh37]
Chr15:15q11.2		 uncertain significance
NC_000015.9:g.(?_22410242)_(23222284_?)del deletion Autism spectrum disorder [RCV000208735] Chr15:22410242..23222284 [GRCh37]
Chr15:15q11.2		 uncertain significance
Single allele duplication Autism spectrum disorder [RCV000225383] Chr15:22528723..23300172 [GRCh37]
Chr15:15q11.2		 uncertain significance
Single allele duplication Autism spectrum disorder [RCV000225442] Chr15:20305097..20777695 [NCBI36]
Chr15:15q11.2		 uncertain significance
Single allele duplication Autism spectrum disorder [RCV000225455] Chr15:20044342..28924405 [GRCh37]
Chr15:15q11.1-13.1		 pathogenic
Single allele deletion Autism spectrum disorder [RCV000225465] Chr15:22750305..23228712 [GRCh37]
Chr15:15q11.2		 uncertain significance
Single allele deletion Autism spectrum disorder [RCV000225468] Chr15:22646349..23140114 [GRCh37]
Chr15:15q11.2		 uncertain significance
Single allele deletion Autism spectrum disorder [RCV000225486] Chr15:22528723..23226254 [GRCh37]
Chr15:15q11.2		 uncertain significance
Single allele duplication Autism spectrum disorder [RCV000225528] Chr15:19852603..20778963 [NCBI36]
Chr15:15q11.2		 uncertain significance
Single allele deletion Autism spectrum disorder [RCV000225537] Chr15:22750305..23114440 [GRCh37]
Chr15:15q11.2		 uncertain significance
Single allele duplication Autism spectrum disorder [RCV000225550] Chr15:20306549..20635884 [NCBI36]
Chr15:15q11.2		 uncertain significance
Single allele duplication Autism spectrum disorder [RCV000225606] Chr15:22750305..23228712 [GRCh37]
Chr15:15q11.2		 uncertain significance
Single allele deletion Autism spectrum disorder [RCV000225629] Chr15:20301669..20638370 [NCBI36]
Chr15:15q11.2		 uncertain significance
Single allele duplication Autism spectrum disorder [RCV000225663] Chr15:20306549..26208861 [GRCh37]
Chr15:15q11.1-12		 pathogenic
Single allele duplication Autism spectrum disorder [RCV000225674] Chr15:22750305..23175280 [GRCh37]
Chr15:15q11.2		 uncertain significance
Single allele duplication Autism spectrum disorder [RCV000225685] Chr15:20306549..20778963 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22815306-23198655)x1 copy number loss See cases [RCV000239931] Chr15:22815306..23198655 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:20733395-28406709)x3 copy number gain See cases [RCV000239962] Chr15:20733395..28406709 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28823722)x3 copy number gain See cases [RCV000511328] Chr15:22770421..28823722 [GRCh37]
Chr15:15q11.2-13.1		 likely pathogenic
GRCh37/hg19 15q11.2(chr15:22815306-23191062)x1 copy number loss See cases [RCV000239885] Chr15:22815306..23191062 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22815306-23059487)x1 copy number loss See cases [RCV000239946] Chr15:22815306..23059487 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22427966-23226254)x1 copy number loss See cases [RCV000239433] Chr15:22427966..23226254 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22815306-28406709)x1 copy number loss See cases [RCV000240259] Chr15:22815306..28406709 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.1-13.3(chr15:20190548-32386089)x4 copy number gain See cases [RCV000240538] Chr15:20190548..32386089 [GRCh37]
Chr15:15q11.1-13.3		 pathogenic
GRCh37/hg19 15q11.2(chr15:20848460-23191062)x1 copy number loss See cases [RCV000240598] Chr15:20848460..23191062 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22822019-23085219)x3 copy number gain See cases [RCV000515552] Chr15:22822019..23085219 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:22698522-28406709)x1 copy number loss See cases [RCV000240502] Chr15:22698522..28406709 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2(chr15:22750305-23226254)x1 copy number loss See cases [RCV000599075] Chr15:22750305..23226254 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28644578)x3 copy number gain See cases [RCV000449082] Chr15:22770421..28644578 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29062203)x3 copy number gain See cases [RCV000449451] Chr15:22770421..29062203 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23283811)x1 copy number loss See cases [RCV000449102] Chr15:22770421..23283811 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.1-13.2(chr15:20071673-30737344)x4 copy number gain See cases [RCV000454142] Chr15:20071673..30737344 [GRCh37]
Chr15:15q11.1-13.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:20733395-23487423)x3 copy number gain See cases [RCV000449296] Chr15:20733395..23487423 [GRCh37]
Chr15:15q11.2		 benign
GRCh37/hg19 15q11.2(chr15:22698522-23217455)x1 copy number loss See cases [RCV000449478] Chr15:22698522..23217455 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28527747)x1 copy number loss See cases [RCV000449486] Chr15:22770421..28527747 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28928730)x1 copy number loss See cases [RCV000446327] Chr15:22770421..28928730 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28527747)x3 copy number gain See cases [RCV000447681] Chr15:22770421..28527747 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28545355)x1 copy number loss See cases [RCV000447305] Chr15:22770421..28545355 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2(chr15:22818404-23620154)x3 copy number gain See cases [RCV000446855] Chr15:22818404..23620154 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28958779)x4 copy number gain See cases [RCV000447111] Chr15:22770421..28958779 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2(chr15:22815306-23207791)x1 copy number loss See cases [RCV000446908] Chr15:22815306..23207791 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22770421-23290819)x1 copy number loss See cases [RCV000446393] Chr15:22770421..23290819 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29021034)x1 copy number loss See cases [RCV000447354] Chr15:22770421..29021034 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28828168)x1 copy number loss See cases [RCV000446646] Chr15:22770421..28828168 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28823722)x4 copy number gain See cases [RCV000447598] Chr15:22770421..28823722 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23282976)x1 copy number loss See cases [RCV000447027] Chr15:22770421..23282976 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28915864)x3 copy number gain See cases [RCV000446464] Chr15:22770421..28915864 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28823722)x1 copy number loss See cases [RCV000446703] Chr15:22770421..28823722 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.1-13.1(chr15:20190548-28406650) copy number gain See cases [RCV000447173] Chr15:20190548..28406650 [GRCh37]
Chr15:15q11.1-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28704050)x1 copy number loss See cases [RCV000447451] Chr15:22770421..28704050 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2(chr15:22815306-23333796)x1 copy number loss See cases [RCV000447452] Chr15:22815306..23333796 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22770421-23213566)x1 copy number loss See cases [RCV000446313] Chr15:22770421..23213566 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23282799)x1 copy number loss See cases [RCV000445977] Chr15:22770421..23282799 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22770421-31760986)x1 copy number loss See cases [RCV000445857] Chr15:22770421..31760986 [GRCh37]
Chr15:15q11.2-13.3		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23206905)x1 copy number loss See cases [RCV000445982] Chr15:22770421..23206905 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29069001)x3 copy number gain See cases [RCV000445780] Chr15:22770421..29069001 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:20733395-28406650)x3 copy number gain See cases [RCV000445711] Chr15:20733395..28406650 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22770421-31073669)x4 copy number gain See cases [RCV000448114] Chr15:22770421..31073669 [GRCh37]
Chr15:15q11.2-13.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22815306-23198596)x1 copy number loss See cases [RCV000447866] Chr15:22815306..23198596 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22770421-23191651)x1 copy number loss See cases [RCV000448021] Chr15:22770421..23191651 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23291159)x1 copy number loss See cases [RCV000448139] Chr15:22770421..23291159 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23191761)x1 copy number loss See cases [RCV000447882] Chr15:22770421..23191761 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22815306-23217455)x1 copy number loss See cases [RCV000448713] Chr15:22815306..23217455 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22770421-23082328)x1 copy number loss See cases [RCV000448911] Chr15:22770421..23082328 [GRCh37]
Chr15:15q11.2		 pathogenic|conflicting data from submitters
GRCh37/hg19 15q11.2(chr15:22665220-23147419) copy number loss Abnormal esophagus morphology [RCV000416676] Chr15:22665220..23147419 [GRCh37]
Chr15:15q11.2		 benign
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28534458)x1 copy number loss See cases [RCV000448156] Chr15:22770421..28534458 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23282799)x3 copy number gain See cases [RCV000448542] Chr15:22770421..23282799 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:22815306-28406650)x1 copy number loss See cases [RCV000448168] Chr15:22815306..28406650 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-14(chr15:22770421-33707835)x3 copy number gain See cases [RCV000447775] Chr15:22770421..33707835 [GRCh37]
Chr15:15q11.2-14		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28709715)x1 copy number loss See cases [RCV000448196] Chr15:22770421..28709715 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28915864)x1 copy number loss See cases [RCV000447934] Chr15:22770421..28915864 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28660038)x4 copy number gain See cases [RCV000448060] Chr15:22770421..28660038 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.1-13.3(chr15:20190548-32917801)x4 copy number gain See cases [RCV000448210] Chr15:20190548..32917801 [GRCh37]
Chr15:15q11.1-13.3		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23282905)x1 copy number loss See cases [RCV000448574] Chr15:22770421..23282905 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23195725)x1 copy number loss See cases [RCV000448859] Chr15:22770421..23195725 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22698522-28406650)x1 copy number loss See cases [RCV000448076] Chr15:22698522..28406650 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28419123)x1 copy number loss See cases [RCV000448602] Chr15:22770421..28419123 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28534245)x3 copy number gain See cases [RCV000448096] Chr15:22770421..28534245 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398)x4 copy number gain See cases [RCV000448389] Chr15:22770421..30386398 [GRCh37]
Chr15:15q11.2-13.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22815306-23191003)x1 copy number loss See cases [RCV000448464] Chr15:22815306..23191003 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22750305-23164315)x1 copy number loss See cases [RCV000515588] Chr15:22750305..23164315 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28526410)x3 copy number gain See cases [RCV000510367] Chr15:22770421..28526410 [GRCh37]
Chr15:15q11.2-13.1		 likely pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22770421-31122895)x4 copy number gain See cases [RCV000510386] Chr15:22770421..31122895 [GRCh37]
Chr15:15q11.2-13.2		 pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398)x4 copy number gain See cases [RCV000510251] Chr15:22770421..30386398 [GRCh37]
Chr15:15q11.2-13.2		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28415107)x1 copy number loss See cases [RCV000510397] Chr15:22770421..28415107 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15p13-q11.2(chr15:2770421-23082442)x1 copy number loss See cases [RCV000510203] Chr15:2770421..23082442 [GRCh37]
Chr15:15p13-q11.2		 likely benign
GRCh37/hg19 15q11.2(chr15:22770421-23209654)x1 copy number loss not provided [RCV000509289] Chr15:22770421..23209654 [GRCh37]
Chr15:15q11.2		 not provided
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29214721)x3 copy number gain See cases [RCV000510224] Chr15:22770421..29214721 [GRCh37]
Chr15:15q11.2-13.1		 likely pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23214755)x1 copy number loss See cases [RCV000510418] Chr15:22770421..23214755 [GRCh37]
Chr15:15q11.2		 likely benign
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29062203)x1 copy number loss See cases [RCV000510693] Chr15:22770421..29062203 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23283811)x1 copy number loss See cases [RCV000510306] Chr15:22770421..23283811 [GRCh37]
Chr15:15q11.2		 conflicting data from submitters
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23276833)x1 copy number loss See cases [RCV000510586] Chr15:22770421..23276833 [GRCh37]
Chr15:15q11.2		 likely benign
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23195725)x1 copy number loss See cases [RCV000511457] Chr15:22770421..23195725 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28660038)x1 copy number loss See cases [RCV000511670] Chr15:22770421..28660038 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23288350)x1 copy number loss See cases [RCV000511591] Chr15:22770421..23288350 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22770421-23277436)x1 copy number loss See cases [RCV000511603] Chr15:22770421..23277436 [GRCh37]
Chr15:15q11.2		 likely benign
GRCh37/hg19 15q11.2(chr15:22770421-23214339)x1 copy number loss See cases [RCV000511201] Chr15:22770421..23214339 [GRCh37]
Chr15:15q11.2		 likely benign
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30369944)x4 copy number gain See cases [RCV000510901] Chr15:22770421..30369944 [GRCh37]
Chr15:15q11.2-13.2		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28561671)x1 copy number loss See cases [RCV000511178] Chr15:22770421..28561671 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770994-23226254)x3 copy number gain See cases [RCV000515587] Chr15:22770994..23226254 [GRCh37]
Chr15:15q11.2		 uncertain significance
Single allele deletion not provided [RCV000768456] Chr15:22751194..23251194 [GRCh37]
Chr15:15q11.2		 likely pathogenic
GRCh37/hg19 15q11.2(chr15:22765628-23300287) copy number loss Obesity [RCV000626503] Chr15:22765628..23300287 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22503621-23091180) copy number loss Global developmental delay [RCV000626502] Chr15:22503621..23091180 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23676512)x1 copy number loss See cases [RCV000512250] Chr15:22770421..23676512 [GRCh37]
Chr15:15q11.2		 likely benign
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28561670)x4 copy number gain See cases [RCV000512182] Chr15:22770421..28561670 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29009042)x3 copy number gain See cases [RCV000512432] Chr15:22770421..29009042 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28376934)x4 copy number gain not provided [RCV000683630] Chr15:22770421..28376934 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28823722)x1 copy number loss not provided [RCV000683633] Chr15:22770421..28823722 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398)x1 copy number loss not provided [RCV000683635] Chr15:22770421..30386398 [GRCh37]
Chr15:15q11.2-13.2		 pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22770421-32421780)x2,3 copy number gain not provided [RCV000683637] Chr15:22770421..32421780 [GRCh37]
Chr15:15q11.2-13.3		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23209654)x3 copy number gain not provided [RCV000683627] Chr15:22770421..23209654 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2-13.3(chr15:22770421-33098520)x3,4 copy number gain not provided [RCV000683639] Chr15:22770421..33098520 [GRCh37]
Chr15:15q11.2-13.3		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29069001)x1 copy number loss not provided [RCV000683634] Chr15:22770421..29069001 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22770421-32439524)x4 copy number gain not provided [RCV000683638] Chr15:22770421..32439524 [GRCh37]
Chr15:15q11.2-13.3		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23288350)x3 copy number gain not provided [RCV000683628] Chr15:22770421..23288350 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28534245)x3 copy number gain not provided [RCV000683631] Chr15:22770421..28534245 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22770421-31073668)x3,4 copy number gain not provided [RCV000683636] Chr15:22770421..31073668 [GRCh37]
Chr15:15q11.2-13.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23082328)x3 copy number gain not provided [RCV000683626] Chr15:22770421..23082328 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22770421-23291158)x4 copy number gain not provided [RCV000683629] Chr15:22770421..23291158 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28545601)x4 copy number gain not provided [RCV000683632] Chr15:22770421..28545601 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22876919-28561671)x1 copy number loss not provided [RCV000683640] Chr15:22876919..28561671 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
NC_000015.10:g.(?_22786657)_(23032029_?)del deletion Hereditary spastic paraplegia 6 [RCV000707782]|not provided [RCV001861923] Chr15:22786657..23032029 [GRCh38]
Chr15:22841039..23086411 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:21903815-23226254)x3 copy number gain not provided [RCV000738645] Chr15:21903815..23226254 [GRCh37]
Chr15:15q11.2		 benign
GRCh37/hg19 15q11.2(chr15:21903815-23226254)x1 copy number loss not provided [RCV000738646] Chr15:21903815..23226254 [GRCh37]
Chr15:15q11.2		 likely benign
GRCh37/hg19 15q11.2-13.1(chr15:22652330-29050198)x1 copy number loss not provided [RCV000738652] Chr15:22652330..29050198 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2(chr15:22750305-23109890)x1 copy number loss not provided [RCV000738653] Chr15:22750305..23109890 [GRCh37]
Chr15:15q11.2		 benign
GRCh37/hg19 15q11.2(chr15:22750305-23112683)x1 copy number loss not provided [RCV000738654] Chr15:22750305..23112683 [GRCh37]
Chr15:15q11.2		 benign
GRCh37/hg19 15q11.2(chr15:22750305-23140114)x3 copy number gain not provided [RCV000738655] Chr15:22750305..23140114 [GRCh37]
Chr15:15q11.2		 benign
GRCh37/hg19 15q11.2(chr15:22750305-23226254)x3 copy number gain not provided [RCV000738656] Chr15:22750305..23226254 [GRCh37]
Chr15:15q11.2		 benign
GRCh37/hg19 15q11.2(chr15:22750305-23272733)x3 copy number gain not provided [RCV000738657] Chr15:22750305..23272733 [GRCh37]
Chr15:15q11.2		 benign
GRCh37/hg19 15q11.2(chr15:22750305-23304851)x1 copy number loss not provided [RCV000738658] Chr15:22750305..23304851 [GRCh37]
Chr15:15q11.2		 benign
Single allele duplication Autistic disorder [RCV000754147] Chr15:22420897..32130343 [GRCh38]
Chr15:15q11.2-13.3		 pathogenic
NC_000015.10:g.(?_22444190)_(23226874_?)del deletion Autistic disorder [RCV000754148] Chr15:22444190..23226874 [GRCh38]
Chr15:15q11.2		 pathogenic
NC_000015.10:g.(?_22570470)_(23226874_?)del deletion Autistic disorder [RCV000754149] Chr15:22570470..23226874 [GRCh38]
Chr15:15q11.2		 pathogenic
NC_000015.10:g.(?_22673143)_(23226874_?)del deletion Autistic disorder [RCV000754150] Chr15:22673143..23226874 [GRCh38]
Chr15:15q11.2		 pathogenic
NC_000015.10:g.(?_22751662)_(23126124_?)del deletion Autistic disorder [RCV000754153] Chr15:22751662..23126124 [GRCh38]
Chr15:15q11.2		 pathogenic
NC_000015.10:g.(?_22770232)_(23126124_?)del deletion Autistic disorder [RCV000754154] Chr15:22770232..23126124 [GRCh38]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.1-13.1(chr15:20102541-28535051)x4 copy number gain not provided [RCV000754760] Chr15:20102541..28535051 [GRCh37]
Chr15:15q11.1-13.1		 pathogenic
NC_000015.10:g.(?_22673675)_(23126124_?)del deletion Schizophrenia [RCV000754151] Chr15:22673675..23126124 [GRCh38]
Chr15:15q11.2		 pathogenic
NC_000015.10:g.(?_22681827)_(23226874_?)del deletion Schizophrenia [RCV000754152] Chr15:22681827..23226874 [GRCh38]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.1-11.2(chr15:20016811-23567465)x3 copy number gain not provided [RCV000751154] Chr15:20016811..23567465 [GRCh37]
Chr15:15q11.1-11.2		 benign
GRCh37/hg19 15q11.2(chr15:22750305-23656946)x3 copy number gain not provided [RCV000751174] Chr15:22750305..23656946 [GRCh37]
Chr15:15q11.2		 benign
GRCh37/hg19 15q11.2(chr15:22750305-23656946)x1 copy number loss not provided [RCV000751175] Chr15:22750305..23656946 [GRCh37]
Chr15:15q11.2		 benign
GRCh37/hg19 15q11.2-13.1(chr15:22750305-28535266)x1 copy number loss not provided [RCV000751176] Chr15:22750305..28535266 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2(chr15:22769771-23272733)x1 copy number loss not provided [RCV000751177] Chr15:22769771..23272733 [GRCh37]
Chr15:15q11.2		 benign
GRCh37/hg19 15q11.2-13.2(chr15:22835967-30371774)x4 copy number gain not provided [RCV000751178] Chr15:22835967..30371774 [GRCh37]
Chr15:15q11.2-13.2		 pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23282799)x1 copy number loss See cases [RCV001564035] Chr15:22770421..23282799 [GRCh37]
Chr15:15q11.2		 likely pathogenic
NM_014608.6(CYFIP1):c.2451G>A (p.Thr817=) single nucleotide variant not provided [RCV000929189] Chr15:22903843 [GRCh38]
Chr15:22969225 [GRCh37]
Chr15:15q11.2		 likely benign
NM_014608.6(CYFIP1):c.3135C>T (p.Ala1045=) single nucleotide variant not provided [RCV000921584] Chr15:22874625 [GRCh38]
Chr15:22998443 [GRCh37]
Chr15:15q11.2		 likely benign
NM_014608.6(CYFIP1):c.993-7T>C single nucleotide variant not provided [RCV000971036] Chr15:22932347 [GRCh38]
Chr15:22940721 [GRCh37]
Chr15:15q11.2		 benign
NM_014608.6(CYFIP1):c.1383G>A (p.Leu461=) single nucleotide variant not provided [RCV000900891] Chr15:22918835 [GRCh38]
Chr15:22954233 [GRCh37]
Chr15:15q11.2		 benign
NM_014608.6(CYFIP1):c.666+3_666+6dup duplication not provided [RCV000948941] Chr15:22939404..22939405 [GRCh38]
Chr15:22933659..22933660 [GRCh37]
Chr15:15q11.2		 benign
NM_014608.6(CYFIP1):c.1233+9C>G single nucleotide variant not provided [RCV000948943] Chr15:22927897 [GRCh38]
Chr15:22945171 [GRCh37]
Chr15:15q11.2		 benign
NM_014608.6(CYFIP1):c.87C>T (p.Ile29=) single nucleotide variant not provided [RCV000901076] Chr15:22947199 [GRCh38]
Chr15:22925869 [GRCh37]
Chr15:15q11.2		 benign
NM_014608.6(CYFIP1):c.2459G>A (p.Gly820Asp) single nucleotide variant not provided [RCV000882807] Chr15:22903835 [GRCh38]
Chr15:22969233 [GRCh37]
Chr15:15q11.2		 likely benign
NM_014608.6(CYFIP1):c.963C>G (p.Thr321=) single nucleotide variant not provided [RCV000926693] Chr15:22933831 [GRCh38]
Chr15:22939237 [GRCh37]
Chr15:15q11.2		 likely benign
NM_014608.6(CYFIP1):c.1977G>C (p.Ser659=) single nucleotide variant not provided [RCV000969652] Chr15:22914734 [GRCh38]
Chr15:22958334 [GRCh37]
Chr15:15q11.2		 benign
NM_014608.6(CYFIP1):c.81C>A (p.Pro27=) single nucleotide variant not provided [RCV000902886] Chr15:22947205 [GRCh38]
Chr15:22925863 [GRCh37]
Chr15:15q11.2		 likely benign
NM_014608.6(CYFIP1):c.472C>T (p.Leu158=) single nucleotide variant not provided [RCV000928921] Chr15:22943270 [GRCh38]
Chr15:22929798 [GRCh37]
Chr15:15q11.2		 benign
NM_014608.6(CYFIP1):c.3330C>T (p.Arg1110=) single nucleotide variant not provided [RCV000905844] Chr15:22873610 [GRCh38]
Chr15:22999458 [GRCh37]
Chr15:15q11.2		 likely benign
NM_014608.6(CYFIP1):c.1041G>A (p.Glu347=) single nucleotide variant not provided [RCV000948942] Chr15:22932292 [GRCh38]
Chr15:22940776 [GRCh37]
Chr15:15q11.2		 benign
NM_014608.6(CYFIP1):c.2526C>T (p.His842=) single nucleotide variant not provided [RCV000903049] Chr15:22903768 [GRCh38]
Chr15:22969300 [GRCh37]
Chr15:15q11.2		 likely benign
NM_014608.6(CYFIP1):c.1650C>T (p.Arg550=) single nucleotide variant not provided [RCV000903083] Chr15:22917812 [GRCh38]
Chr15:22955256 [GRCh37]
Chr15:15q11.2		 likely benign
NM_014608.6(CYFIP1):c.3336T>C (p.Pro1112=) single nucleotide variant not provided [RCV000903247] Chr15:22873604 [GRCh38]
Chr15:22999464 [GRCh37]
Chr15:15q11.2		 likely benign
GRCh37/hg19 15q11.2(chr15:22880274-23217514)x3 copy number gain not provided [RCV000856635] Chr15:22880274..23217514 [GRCh37]
Chr15:15q11.2		 pathogenic|risk factor
GRCh37/hg19 15q11.2(chr15:21903815-23272733)x1 copy number loss See cases [RCV001007406] Chr15:21903815..23272733 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22652330-23272733)x1 copy number loss See cases [RCV001007419] Chr15:22652330..23272733 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.1-13.2(chr15:20190548-30300265) copy number gain 15q11q13 microduplication syndrome [RCV000767717] Chr15:20190548..30300265 [GRCh37]
Chr15:15q11.1-13.2		 pathogenic
GRCh37/hg19 15q11.1-13.1(chr15:20191652-28525310) copy number gain 15q11q13 microduplication syndrome [RCV000767718] Chr15:20191652..28525310 [GRCh37]
Chr15:15q11.1-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22383299-32917689) copy number gain 15q11q13 microduplication syndrome [RCV000767722] Chr15:22383299..32917689 [GRCh37]
Chr15:15q11.2-13.3		 pathogenic
GRCh37/hg19 15q11.2(chr15:22750305-23226254)x3 copy number gain See cases [RCV000790577] Chr15:22750305..23226254 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22816713-28530182) copy number gain 15q11q13 microduplication syndrome [RCV000767841] Chr15:22816713..28530182 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770994-28517432) copy number gain 15q11q13 microduplication syndrome [RCV000767723] Chr15:22770994..28517432 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
NM_014608.6(CYFIP1):c.666+7del deletion not provided [RCV000953004] Chr15:22939404 [GRCh38]
Chr15:22933664 [GRCh37]
Chr15:15q11.2		 benign
NM_014608.6(CYFIP1):c.1153G>A (p.Ala385Thr) single nucleotide variant not provided [RCV000947601] Chr15:22927986 [GRCh38]
Chr15:22945082 [GRCh37]
Chr15:15q11.2		 benign
NM_014608.6(CYFIP1):c.3008C>T (p.Ala1003Val) single nucleotide variant not provided [RCV000953539] Chr15:22879947 [GRCh38]
Chr15:22993121 [GRCh37]
Chr15:15q11.2		 benign
NM_014608.6(CYFIP1):c.2895C>T (p.His965=) single nucleotide variant not provided [RCV000895882] Chr15:22881862 [GRCh38]
Chr15:22991206 [GRCh37]
Chr15:15q11.2		 likely benign
NM_014608.6(CYFIP1):c.3366C>T (p.Asp1122=) single nucleotide variant not provided [RCV000927135] Chr15:22873574 [GRCh38]
Chr15:22999494 [GRCh37]
Chr15:15q11.2		 likely benign
NM_014608.6(CYFIP1):c.3162C>T (p.Tyr1054=) single nucleotide variant not provided [RCV000964532] Chr15:22874598 [GRCh38]
Chr15:22998470 [GRCh37]
Chr15:15q11.2		 benign
NM_014608.6(CYFIP1):c.2274C>T (p.Leu758=) single nucleotide variant not provided [RCV000967341] Chr15:22909308 [GRCh38]
Chr15:22963760 [GRCh37]
Chr15:15q11.2		 benign
NM_014608.6(CYFIP1):c.153A>G (p.Ala51=) single nucleotide variant not provided [RCV000896753] Chr15:22947057 [GRCh38]
Chr15:22926011 [GRCh37]
Chr15:15q11.2		 likely benign
GRCh37/hg19 15q11.2-13.3(chr15:20848750-32925141) copy number loss Angelman syndrome [RCV000767719] Chr15:20848750..32925141 [GRCh37]
Chr15:15q11.2-13.3		 pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22382860-32396457) copy number gain 15q11q13 microduplication syndrome [RCV000767720] Chr15:22382860..32396457 [GRCh37]
Chr15:15q11.2-13.3		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770994-29050198) copy number loss Angelman syndrome [RCV000767721] Chr15:22770994..29050198 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22816713-28530182) copy number loss Angelman syndrome [RCV000767840] Chr15:22816713..28530182 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2(chr15:22765628-23217514)x1 copy number loss Chromosome 15q11.2 deletion syndrome [RCV000856647] Chr15:22765628..23217514 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.1-13.3(chr15:20179527-32998070)x3 copy number gain not provided [RCV000846014] Chr15:20179527..32998070 [GRCh37]
Chr15:15q11.1-13.3		 pathogenic
NM_014608.6(CYFIP1):c.3603G>A (p.Leu1201=) single nucleotide variant not provided [RCV000962992] Chr15:22870187 [GRCh38]
Chr15:23002881 [GRCh37]
Chr15:15q11.2		 benign
GRCh37/hg19 15q11.2(chr15:22770994-23109890)x3 copy number gain See cases [RCV001194534] Chr15:22770994..23109890 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22299434-23226254)x1 copy number loss See cases [RCV001195070] Chr15:22299434..23226254 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22750305-23109890)x1 copy number loss See cases [RCV001007437] Chr15:22750305..23109890 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22750305-23272733)x1 copy number loss See cases [RCV001007409] Chr15:22750305..23272733 [GRCh37]
Chr15:15q11.2		 pathogenic
Single allele deletion Angelman syndrome [RCV001250750] Chr15:22833416..28566671 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-14(chr15:22770421-36861479)x1 copy number loss not provided [RCV001006664] Chr15:22770421..36861479 [GRCh37]
Chr15:15q11.2-14		 pathogenic
GRCh37/hg19 15q11.2(chr15:22971653-23082442)x3 copy number gain not provided [RCV000845800] Chr15:22971653..23082442 [GRCh37]
Chr15:15q11.2		 uncertain significance
Single allele deletion Angelman syndrome [RCV001250749] Chr15:22646692..28964445 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
Single allele complex Esophageal atresia [RCV000986105] Chr15:22676913..30137106 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
NM_014608.4:c.-6-?_*563+?del deletion not provided [RCV000899162]   likely benign
NM_014608.6(CYFIP1):c.3043-4C>G single nucleotide variant not provided [RCV000974580] Chr15:22875275 [GRCh38]
Chr15:22997793 [GRCh37]
Chr15:15q11.2		 benign
NM_014608.6(CYFIP1):c.2508C>T (p.Tyr836=) single nucleotide variant not provided [RCV000974017] Chr15:22903786 [GRCh38]
Chr15:22969282 [GRCh37]
Chr15:15q11.2		 benign
NM_014608.6(CYFIP1):c.2238C>T (p.Tyr746=) single nucleotide variant not provided [RCV000974122] Chr15:22910550 [GRCh38]
Chr15:22962518 [GRCh37]
Chr15:15q11.2		 benign
NM_014608.6(CYFIP1):c.1575T>C (p.His525=) single nucleotide variant not provided [RCV000930045] Chr15:22917887 [GRCh38]
Chr15:22955181 [GRCh37]
Chr15:15q11.2		 likely benign
NM_014608.6(CYFIP1):c.912G>A (p.Val304=) single nucleotide variant not provided [RCV000954984] Chr15:22933882 [GRCh38]
Chr15:22939186 [GRCh37]
Chr15:15q11.2		 benign|likely benign
NM_014608.6(CYFIP1):c.3165C>T (p.Ala1055=) single nucleotide variant not provided [RCV000921372] Chr15:22874595 [GRCh38]
Chr15:22998473 [GRCh37]
Chr15:15q11.2		 likely benign
NM_014608.6(CYFIP1):c.1356G>A (p.Val452=) single nucleotide variant not provided [RCV000927181] Chr15:22925985 [GRCh38]
Chr15:22947083 [GRCh37]
Chr15:15q11.2		 likely benign
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386553)x4 copy number gain not provided [RCV001006662] Chr15:22770421..30386553 [GRCh37]
Chr15:15q11.2-13.2		 pathogenic
NM_014608.6(CYFIP1):c.2707G>A (p.Gly903Ser) single nucleotide variant not provided [RCV000957911] Chr15:22882981 [GRCh38]
Chr15:22990087 [GRCh37]
Chr15:15q11.2		 benign
NM_014608.6(CYFIP1):c.3099G>T (p.Pro1033=) single nucleotide variant not provided [RCV000889515] Chr15:22875215 [GRCh38]
Chr15:22997853 [GRCh37]
Chr15:15q11.2		 benign
NM_014608.6(CYFIP1):c.3036G>A (p.Gln1012=) single nucleotide variant not provided [RCV000935198] Chr15:22879919 [GRCh38]
Chr15:22993149 [GRCh37]
Chr15:15q11.2		 likely benign
GRCh37/hg19 15q11.2-13.3(chr15:22770421-32915089)x4 copy number gain not provided [RCV001006663] Chr15:22770421..32915089 [GRCh37]
Chr15:15q11.2-13.3		 pathogenic
GRCh37/hg19 15q11.2(chr15:22652330-23226254)x1 copy number loss See cases [RCV001194519] Chr15:22652330..23226254 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22835646-23272733)x3 copy number gain See cases [RCV001194539] Chr15:22835646..23272733 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22750305-23222284)x1 copy number loss See cases [RCV001195075] Chr15:22750305..23222284 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22750305-23114374)x3 copy number gain See cases [RCV001007446] Chr15:22750305..23114374 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22750305-23164315)x3 copy number gain See cases [RCV001194575] Chr15:22750305..23164315 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23291159)x1 copy number loss not provided [RCV001258581] Chr15:22770421..23291159 [GRCh37]
Chr15:15q11.2		 likely pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23082442)x1 copy number loss not provided [RCV001258582] Chr15:22770421..23082442 [GRCh37]
Chr15:15q11.2		 likely pathogenic
GRCh37/hg19 15q11.2(chr15:22765628-23191062) copy number loss Epileptic encephalopathy [RCV001291988]|Global developmental delay [RCV001291966] Chr15:22765628..23191062 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22765628-23085096) copy number loss Autistic disorder [RCV001291952] Chr15:22765628..23085096 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22833171-23220132)x1 copy number loss not provided [RCV001270657] Chr15:22833171..23220132 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22646799-23301267)x1 copy number loss not provided [RCV001270653] Chr15:22646799..23301267 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22695842-23300942)x1 copy number loss not provided [RCV001270654] Chr15:22695842..23300942 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22749635-23301317)x1 copy number loss not provided [RCV001270655] Chr15:22749635..23301317 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22833321-23223777)x1 copy number loss not provided [RCV001270658] Chr15:22833321..23223777 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22833525-23264865)x1 copy number loss not provided [RCV001531214] Chr15:22833525..23264865 [GRCh37]
Chr15:15q11.2		 pathogenic
Single allele duplication 15q11q13 microduplication syndrome [RCV001420629] Chr15:22804175..30375696 [GRCh38]
Chr15:15q11.2-13.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22746948-23323445)x1 copy number loss See cases [RCV001526483] Chr15:22746948..23323445 [GRCh37]
Chr15:15q11.2		 likely pathogenic
GRCh37/hg19 15q11.2(chr15:22744149-23407579)x3 copy number gain Chromosome 15q11.2 deletion syndrome [RCV001801191] Chr15:22744149..23407579 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22832874-23223352)x1 copy number loss not provided [RCV001795862] Chr15:22832874..23223352 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22743127-23246000)x1 copy number loss Chromosome 15q11.2 deletion syndrome [RCV001801215] Chr15:22743127..23246000 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2-12(chr15:22722801-26749200) copy number gain Cerebral palsy [RCV001796580] Chr15:22722801..26749200 [GRCh37]
Chr15:15q11.2-12		 risk factor
GRCh37/hg19 15q11.2(chr15:22770421-23625677)x1 copy number loss not provided [RCV001832878] Chr15:22770421..23625677 [GRCh37]
Chr15:15q11.2		 likely pathogenic
GRCh37/hg19 15q11.2(chr15:22770422-24058623)x3 copy number gain not provided [RCV001832958] Chr15:22770422..24058623 [GRCh37]
Chr15:15q11.2		 likely pathogenic
Single allele duplication Neurodevelopmental disorder [RCV001839393] Chr15:22723843..23122692 [GRCh38]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22770422-23195725)x1 copy number loss not provided [RCV001833029] Chr15:22770422..23195725 [GRCh37]
Chr15:15q11.2		 likely pathogenic
GRCh37/hg19 15q11.2(chr15:22811927-23082442)x1 copy number loss not provided [RCV001829217] Chr15:22811927..23082442 [GRCh37]
Chr15:15q11.2		 likely pathogenic
NM_014608.6(CYFIP1):c.2383A>G (p.Ile795Val) single nucleotide variant not provided [RCV000957910] Chr15:22909199 [GRCh38]
Chr15:22963869 [GRCh37]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2(chr15:22787972-23107440)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051330]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051330]|See cases [RCV000051330] Chr15:22787972..23107440 [GRCh38]
Chr15:22765628..23085096 [GRCh37]
Chr15:15q11.2		 uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13759 AgrOrtholog
COSMIC CYFIP1 COSMIC
Ensembl Genes ENSG00000273749 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000280618 UniProtKB/TrEMBL
  ENSG00000288461 UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000453060 UniProtKB/TrEMBL
  ENSP00000478377 UniProtKB/TrEMBL
  ENSP00000478779 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000479802 UniProtKB/TrEMBL
  ENSP00000480307 UniProtKB/TrEMBL
  ENSP00000480525 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000480596 UniProtKB/TrEMBL
  ENSP00000481038 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000482459 UniProtKB/TrEMBL
  ENSP00000485841 UniProtKB/TrEMBL
  ENSP00000486145 UniProtKB/TrEMBL
  ENSP00000486555 UniProtKB/TrEMBL
  ENSP00000486724 UniProtKB/TrEMBL
  ENSP00000486951 UniProtKB/TrEMBL
  ENSP00000487107 UniProtKB/TrEMBL
  ENSP00000487156 UniProtKB/TrEMBL
  ENSP00000499947 UniProtKB/Swiss-Prot
  ENSP00000500331 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000561263 UniProtKB/TrEMBL
  ENST00000610365 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000611832 UniProtKB/TrEMBL
  ENST00000612288 UniProtKB/TrEMBL
  ENST00000613006 UniProtKB/TrEMBL
  ENST00000617556 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000617928 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000619037 UniProtKB/TrEMBL
  ENST00000622576 UniProtKB/TrEMBL
  ENST00000625276 UniProtKB/TrEMBL
  ENST00000626546 UniProtKB/TrEMBL
  ENST00000627204 UniProtKB/TrEMBL
  ENST00000627816 UniProtKB/TrEMBL
  ENST00000628747 UniProtKB/TrEMBL
  ENST00000628954 UniProtKB/TrEMBL
  ENST00000630158 UniProtKB/TrEMBL
  ENST00000671714 UniProtKB/Swiss-Prot
  ENST00000672091 UniProtKB/Swiss-Prot
GTEx ENSG00000273749 GTEx
  ENSG00000280618 GTEx
  ENSG00000288461 GTEx
HGNC ID HGNC:13759 ENTREZGENE
Human Proteome Map CYFIP1 Human Proteome Map
InterPro Cytoplasmic_FMR1-int UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DUF1394 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23191 UniProtKB/Swiss-Prot
NCBI Gene 23191 ENTREZGENE
OMIM 606322 OMIM
PANTHER PTHR12195 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DUF1394 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FragX_IP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38367 PharmGKB
PIRSF FMR1_interacting UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS CYTOFMRPINTP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WU52_HUMAN UniProtKB/TrEMBL
  A0A087WVZ5_HUMAN UniProtKB/TrEMBL
  A0A087WWL1_HUMAN UniProtKB/TrEMBL
  A0A087WWY5_HUMAN UniProtKB/TrEMBL
  A0A087WZ89_HUMAN UniProtKB/TrEMBL
  A0A0G2JQH3_HUMAN UniProtKB/TrEMBL
  A0A0G2JQT1_HUMAN UniProtKB/TrEMBL
  A0A0G2JR96_HUMAN UniProtKB/TrEMBL
  A0A0G2JRF5_HUMAN UniProtKB/TrEMBL
  A0A0G2JRP0_HUMAN UniProtKB/TrEMBL
  A0A0G2JRV9_HUMAN UniProtKB/TrEMBL
  A0A0G2JRX2_HUMAN UniProtKB/TrEMBL
  CYFP1_HUMAN UniProtKB/Swiss-Prot
  H0YL50_HUMAN UniProtKB/TrEMBL
  Q7L576 ENTREZGENE
  X5D2F4_HUMAN UniProtKB/TrEMBL
UniProt Secondary A8K6D9 UniProtKB/Swiss-Prot
  Q14467 UniProtKB/Swiss-Prot
  Q5IED0 UniProtKB/Swiss-Prot
  Q6ZSX1 UniProtKB/Swiss-Prot
  Q9BSD9 UniProtKB/Swiss-Prot
  Q9BVC7 UniProtKB/Swiss-Prot