MIR4761 (microRNA 4761) - Rat Genome Database

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Gene: MIR4761 (microRNA 4761) Homo sapiens
Analyze
Symbol: MIR4761
Name: microRNA 4761
RGD ID: 5134057
HGNC Page HGNC
Description: microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
Type: ncrna
RefSeq Status: PROVISIONAL
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2219,963,753 - 19,963,834 (+)EnsemblGRCh38hg38GRCh38
GRCh382219,963,753 - 19,963,834 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372219,951,276 - 19,951,357 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map22q11.21NCBI
HuRef223,571,755 - 3,571,836 (+)NCBIHuRef
CHM1_12219,950,985 - 19,951,066 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Human Phenotype
Autism  (IAGP)
Schizophrenia  (IAGP)
References
Additional References at PubMed
PMID:16381832   PMID:21199797   PMID:24816252  


Genomics

miRNA Target Status

Predicted Targets
Summary Value
Count of predictions:36687
Count of gene targets:14372
Count of transcripts:29765
Interacting mature miRNAs:hsa-miR-4761-3p, hsa-miR-4761-5p
Prediction methods:Microtar, Miranda, Pita, 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
High
Medium 1 1
Low 11 22 11 8 33 6 25 6 36 7 32 7 2 6 18
Below cutoff 12 11 9 3 3 2 18 8 35 1 3 4 1 8 11

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000585066
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2219,963,753 - 19,963,834 (+)Ensembl
RefSeq Acc Id: NR_039918
RefSeq Status: PROVISIONAL
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,963,753 - 19,963,834 (+)NCBI
GRCh372219,951,276 - 19,951,357 (+)ENTREZGENE
HuRef223,571,755 - 3,571,836 (+)ENTREZGENE
CHM1_12219,950,985 - 19,951,066 (+)NCBI
Sequence:

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 22q11.21(chr22:18389245-21086225)x3 copy number gain See cases [RCV000133642] Chr22:18389245..21086225 [GRCh38]
Chr22:20659547..21440514 [GRCh37]
Chr22:18989547..19770514 [NCBI36]
Chr22:22q11.21
uncertain significance
GRCh38/hg38 22q11.21(chr22:18389245-21086225)x1 copy number loss See cases [RCV000133643] Chr22:18389245..21086225 [GRCh38]
Chr22:20659547..21440514 [GRCh37]
Chr22:18989547..19770514 [NCBI36]
Chr22:22q11.21
uncertain significance
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss See cases [RCV000133890] Chr22:18339130..21151128 [GRCh38]
Chr22:18894835..21505417 [GRCh37]
Chr22:17274835..19835417 [NCBI36]
Chr22:22q11.21
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18339130-20354644)x1 copy number loss See cases [RCV000051035] Chr22:18339130..20354644 [GRCh38]
Chr22:18919942..20708934 [GRCh37]
Chr22:17299942..19038934 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 copy number gain See cases [RCV000051023] Chr22:18339130..21086225 [GRCh38]
Chr22:18706001..21440514 [GRCh37]
Chr22:17086001..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x4 copy number gain See cases [RCV000133889] Chr22:18339130..21151128 [GRCh38]
Chr22:18894835..21505417 [GRCh37]
Chr22:17274835..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 copy number gain See cases [RCV000133880] Chr22:18339130..21207225 [GRCh38]
Chr22:18894835..21561514 [GRCh37]
Chr22:17274835..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x1 copy number loss See cases [RCV000133881] Chr22:18339130..21207225 [GRCh38]
Chr22:18894835..21561514 [GRCh37]
Chr22:17274835..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3 copy number gain See cases [RCV000133887] Chr22:18339130..21151128 [GRCh38]
Chr22:18894835..21505417 [GRCh37]
Chr22:17274835..19835417 [NCBI36]
Chr22:22q11.21
pathogenic|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x1 copy number loss See cases [RCV000050630] Chr22:18339130..21454720 [GRCh38]
Chr22:18919942..21809009 [GRCh37]
Chr22:17299942..20139009 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x3 copy number gain See cases [RCV000050729] Chr22:18339130..20343532 [GRCh38]
Chr22:18919942..20659606 [GRCh37]
Chr22:17299942..18989606 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x3 copy number gain See cases [RCV000133785] Chr22:16916608..20354644 [GRCh38]
Chr22:17397498..20708934 [GRCh37]
Chr22:15777498..19038934 [NCBI36]
Chr22:22q11.1-11.21
pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x1 copy number loss See cases [RCV000133786] Chr22:16916608..20354644 [GRCh38]
Chr22:17397498..20708934 [GRCh37]
Chr22:15777498..19038934 [NCBI36]
Chr22:22q11.1-11.21
pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20343532)x3 copy number gain See cases [RCV000133682] Chr22:16916608..20343532 [GRCh38]
Chr22:17397498..20659606 [GRCh37]
Chr22:15777498..18989606 [NCBI36]
Chr22:22q11.1-11.21
pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q11.21(chr22:18907322-20250683)x1 copy number loss See cases [RCV000134515] Chr22:18907322..20250683 [GRCh38]
Chr22:18894835..20238206 [GRCh37]
Chr22:17274835..18618206 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21107463)x3 copy number gain See cases [RCV000134519] Chr22:18339130..21107463 [GRCh38]
Chr22:18894835..21461752 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21107463)x1 copy number loss See cases [RCV000134520] Chr22:18339130..21107463 [GRCh38]
Chr22:18894835..21461752 [GRCh37]
Chr22:17274835..19791752 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1 copy number loss See cases [RCV000133998] Chr22:18339130..20343532 [GRCh38]
Chr22:18894835..20659606 [GRCh37]
Chr22:17274835..18989606 [NCBI36]
Chr22:22q11.21
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18178932-21151156)x3 copy number gain See cases [RCV000134128] Chr22:18178932..21151156 [GRCh38]
Chr22:18661699..21505445 [GRCh37]
Chr22:17041699..19835445 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086226)x3 copy number gain See cases [RCV000134084] Chr22:18339130..21086226 [GRCh38]
Chr22:18894820..21440515 [GRCh37]
Chr22:17274820..19770515 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086226)x1 copy number loss See cases [RCV000134085] Chr22:18339130..21086226 [GRCh38]
Chr22:18894820..21440515 [GRCh37]
Chr22:17274820..19770515 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178932-21151156)x1 copy number loss See cases [RCV000134130] Chr22:18178932..21151156 [GRCh38]
Chr22:18661699..21505445 [GRCh37]
Chr22:17041699..19835445 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18168847-21086166)x3 copy number gain See cases [RCV000135308] Chr22:18168847..21086166 [GRCh38]
Chr22:18651614..21440455 [GRCh37]
Chr22:17031614..19770455 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18145380-21086226)x1 copy number loss See cases [RCV000134837] Chr22:18145380..21086226 [GRCh38]
Chr22:18628147..21440515 [GRCh37]
Chr22:17008147..19770515 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18932429-20324240)x3 copy number gain See cases [RCV000135733] Chr22:18932429..20324240 [GRCh38]
Chr22:18919942..20311763 [GRCh37]
Chr22:17299942..18691763 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20354644)x3 copy number gain See cases [RCV000135512] Chr22:18339130..20354644 [GRCh38]
Chr22:18919942..20708934 [GRCh37]
Chr22:17299942..19038934 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-20343532)x1 copy number loss See cases [RCV000135619] Chr22:18178957..20343532 [GRCh38]
Chr22:18661724..20659606 [GRCh37]
Chr22:17041724..18989606 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21086225)x3 copy number gain See cases [RCV000135519] Chr22:18178957..21086225 [GRCh38]
Chr22:18661724..21440514 [GRCh37]
Chr22:17041724..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 copy number gain See cases [RCV000135456] Chr22:18339130..21207225 [GRCh38]
Chr22:19058829..21561514 [GRCh37]
Chr22:17438829..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21307146)x3 copy number gain See cases [RCV000136518] Chr22:18178957..21307146 [GRCh38]
Chr22:18661724..21661435 [GRCh37]
Chr22:17041724..19991435 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18718488-20324240)x1 copy number loss See cases [RCV000136577] Chr22:18718488..20324240 [GRCh38]
Chr22:18706001..20311763 [GRCh37]
Chr22:17086001..18691763 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss See cases [RCV000136527] Chr22:18339130..21151128 [GRCh38]
Chr22:20311704..21505417 [GRCh37]
Chr22:18691704..19835417 [NCBI36]
Chr22:22q11.21
uncertain significance
GRCh38/hg38 22q11.21(chr22:18339130-21003834)x3 copy number gain See cases [RCV000135898] Chr22:18339130..21003834 [GRCh38]
Chr22:18908832..21358123 [GRCh37]
Chr22:17288832..19688123 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21028664)x1 copy number loss See cases [RCV000136808] Chr22:18339130..21028664 [GRCh38]
Chr22:18896972..21382953 [GRCh37]
Chr22:17276972..19712953 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 copy number loss See cases [RCV000136677] Chr22:18339130..21086225 [GRCh38]
Chr22:19058829..21440514 [GRCh37]
Chr22:17438829..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18909459-20324240)x1 copy number loss See cases [RCV000136832] Chr22:18909459..20324240 [GRCh38]
Chr22:18896972..20311763 [GRCh37]
Chr22:17276972..18691763 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21441926)x1 copy number loss See cases [RCV000136758] Chr22:18339130..21441926 [GRCh38]
Chr22:18891526..21796215 [GRCh37]
Chr22:17271526..20126215 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21107522)x1 copy number loss See cases [RCV000137504] Chr22:18178957..21107522 [GRCh38]
Chr22:18661724..21461811 [GRCh37]
Chr22:17041724..19791811 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21107522)x1 copy number loss See cases [RCV000138169] Chr22:18339130..21107522 [GRCh38]
Chr22:18894835..21461811 [GRCh37]
Chr22:17274835..19791811 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3 copy number gain See cases [RCV000138187] Chr22:18339130..21454720 [GRCh38]
Chr22:18894835..21809009 [GRCh37]
Chr22:17274835..20139009 [NCBI36]
Chr22:22q11.21
pathogenic|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18907322-20324261)x3 copy number gain See cases [RCV000138026] Chr22:18907322..20324261 [GRCh38]
Chr22:18894835..20311784 [GRCh37]
Chr22:17274835..18691784 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18145252-21109830)x1 copy number loss See cases [RCV000137985] Chr22:18145252..21109830 [GRCh38]
Chr22:18628019..21464119 [GRCh37]
Chr22:17008019..19794119 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18389245-21454720)x3 copy number gain See cases [RCV000137927] Chr22:18389245..21454720 [GRCh38]
Chr22:20659547..21809009 [GRCh37]
Chr22:18989547..20139009 [NCBI36]
Chr22:22q11.21
uncertain significance
GRCh38/hg38 22q11.21(chr22:18339130-21109830)x1 copy number loss See cases [RCV000137960] Chr22:18339130..21109830 [GRCh38]
Chr22:18894835..21464119 [GRCh37]
Chr22:17274835..19794119 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21109830)x1 copy number loss See cases [RCV000138671] Chr22:18178957..21109830 [GRCh38]
Chr22:18661724..21464119 [GRCh37]
Chr22:17041724..19794119 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21109830)x1 copy number loss See cases [RCV000138354] Chr22:18339130..21109830 [GRCh38]
Chr22:18706001..21464119 [GRCh37]
Chr22:17086001..19794119 [NCBI36]
Chr22:22q11.21
pathogenic|conflicting data from submitters
GRCh38/hg38 22q11.21-11.22(chr22:18178932-22562620)x3 copy number gain See cases [RCV000139316] Chr22:18178932..22562620 [GRCh38]
Chr22:18661699..22905025 [GRCh37]
Chr22:17041699..21235025 [NCBI36]
Chr22:22q11.21-11.22
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151156)x3 copy number gain See cases [RCV000139000] Chr22:18339130..21151156 [GRCh38]
Chr22:18894820..21505445 [GRCh37]
Chr22:17274820..19835445 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x3 copy number gain See cases [RCV000139955] Chr22:18339130..21111373 [GRCh38]
Chr22:18916828..21465662 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21107463)x3 copy number gain See cases [RCV000141416] Chr22:18178957..21107463 [GRCh38]
Chr22:18661724..21461752 [GRCh37]
Chr22:17041724..19791752 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:18339130-23480799)x1 copy number loss See cases [RCV000141233] Chr22:18339130..23480799 [GRCh38]
Chr22:20279766..23822986 [GRCh37]
Chr22:18659766..22152986 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.21(chr22:18929315-20325138)x3 copy number gain See cases [RCV000140932] Chr22:18929315..20325138 [GRCh38]
Chr22:18916828..20312661 [GRCh37]
Chr22:17296828..18692661 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21109830)x1 copy number loss See cases [RCV000140853] Chr22:18339130..21109830 [GRCh38]
Chr22:19035323..21464119 [GRCh37]
Chr22:17415323..19794119 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101210)x1 copy number loss See cases [RCV000140773] Chr22:18339130..21101210 [GRCh38]
Chr22:18999803..21455499 [GRCh37]
Chr22:17379803..19785499 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18929329-20324335)x1 copy number loss See cases [RCV000141995] Chr22:18929329..20324335 [GRCh38]
Chr22:18916842..20311858 [GRCh37]
Chr22:17296842..18691858 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18929329-20325138)x1 copy number loss See cases [RCV000141906] Chr22:18929329..20325138 [GRCh38]
Chr22:18916842..20312661 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20686726)x1 copy number loss See cases [RCV000141972] Chr22:18339130..20686726 [GRCh38]
Chr22:18916828..21041014 [GRCh37]
Chr22:17296828..19371014 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1 copy number loss See cases [RCV000141704] Chr22:18339130..21111370 [GRCh38]
Chr22:18916828..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20980781)x1 copy number loss See cases [RCV000141782] Chr22:18339130..20980781 [GRCh38]
Chr22:20277314..21335070 [GRCh37]
Chr22:18657314..19665070 [NCBI36]
Chr22:22q11.21
uncertain significance
GRCh38/hg38 22q11.21(chr22:18157962-21111370)x3 copy number gain See cases [RCV000141737] Chr22:18157962..21111370 [GRCh38]
Chr22:18640729..21465659 [GRCh37]
Chr22:17020729..19795659 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21450597)x1 copy number loss See cases [RCV000141677] Chr22:18339130..21450597 [GRCh38]
Chr22:18916842..21804886 [GRCh37]
Chr22:17296842..20134886 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18166089-21111373)x1 copy number loss See cases [RCV000142253] Chr22:18166089..21111373 [GRCh38]
Chr22:18648856..21465662 [GRCh37]
Chr22:17028856..19795662 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1 copy number loss See cases [RCV000142073] Chr22:18339130..21111370 [GRCh38]
Chr22:19024656..21465659 [GRCh37]
Chr22:17404656..19795659 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18161474-21111373)x1 copy number loss See cases [RCV000142151] Chr22:18161474..21111373 [GRCh38]
Chr22:18644241..21465662 [GRCh37]
Chr22:17024241..19795662 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18389245-21109830)x1 copy number loss See cases [RCV000142988] Chr22:18389245..21109830 [GRCh38]
Chr22:20659547..21464119 [GRCh37]
Chr22:18989547..19794119 [NCBI36]
Chr22:22q11.21
likely pathogenic|uncertain significance
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1 copy number loss See cases [RCV000142546] Chr22:18339130..20343532 [GRCh38]
Chr22:18919942..20659606 [GRCh37]
Chr22:17299942..18989606 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18389245-21151128)x1 copy number loss See cases [RCV000142670] Chr22:18389245..21151128 [GRCh38]
Chr22:20659547..21505417 [GRCh37]
Chr22:18989547..19835417 [NCBI36]
Chr22:22q11.21
uncertain significance
GRCh38/hg38 22q11.21(chr22:18178957-21454720)x1 copy number loss See cases [RCV000142783] Chr22:18178957..21454720 [GRCh38]
Chr22:18661724..21809009 [GRCh37]
Chr22:17041724..20139009 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21307146)x1 copy number loss See cases [RCV000142734] Chr22:18339130..21307146 [GRCh38]
Chr22:18765085..21661435 [GRCh37]
Chr22:17145085..19991435 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21447315)x3 copy number gain See cases [RCV000142641] Chr22:18339130..21447315 [GRCh38]
Chr22:18919942..21801604 [GRCh37]
Chr22:17299942..20131604 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1 copy number loss See cases [RCV000143362] Chr22:18339130..21111373 [GRCh38]
Chr22:18916827..21465662 [GRCh37]
Chr22:17296827..19795662 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x3 copy number gain See cases [RCV000143391] Chr22:18339130..21111370 [GRCh38]
Chr22:18916828..21465659 [GRCh37]
Chr22:17296828..19795659 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1 copy number loss See cases [RCV000143442] Chr22:18339130..21111373 [GRCh38]
Chr22:18970561..21465662 [GRCh37]
Chr22:17350561..19795662 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1 copy number loss See cases [RCV000143225] Chr22:18339130..21111373 [GRCh38]
Chr22:18916842..21465662 [GRCh37]
Chr22:17296842..19795662 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1 copy number loss See cases [RCV000143293] Chr22:18339130..21111370 [GRCh38]
Chr22:18876630..21465659 [GRCh37]
Chr22:17256630..19795659 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x3 copy number gain See cases [RCV000143229] Chr22:18339130..21111370 [GRCh38]
Chr22:18916842..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1 copy number loss See cases [RCV000143234] Chr22:18339130..21111370 [GRCh38]
Chr22:18916842..21465659 [GRCh37]
Chr22:17296842..19795659 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1 copy number loss See cases [RCV000143126] Chr22:18339130..21111373 [GRCh38]
Chr22:18916828..21465662 [GRCh37]
Chr22:17296828..19795662 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20671425)x1 copy number loss See cases [RCV000148086] Chr22:18339130..20671425 [GRCh38]
Chr22:18706001..21025713 [GRCh37]
Chr22:17086001..19355713 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 copy number gain See cases [RCV000148047] Chr22:18339130..21207225 [GRCh38]
Chr22:18919942..21561514 [GRCh37]
Chr22:17299942..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18929329-20325138)x3 copy number gain See cases [RCV000143506] Chr22:18929329..20325138 [GRCh38]
Chr22:18916842..20312661 [GRCh37]
Chr22:17296842..18692661 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1 copy number loss See cases [RCV000148287] Chr22:18339130..20343532 [GRCh38]
Chr22:18706001..20659606 [GRCh37]
Chr22:17086001..18989606 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21151128)x3 copy number gain See cases [RCV000148257] Chr22:18178957..21151128 [GRCh38]
Chr22:18661724..21505417 [GRCh37]
Chr22:17041724..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3 copy number gain See cases [RCV000148102] Chr22:18339130..21454720 [GRCh38]
Chr22:18919942..21809009 [GRCh37]
Chr22:17299942..20139009 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3 copy number gain See cases [RCV000148103] Chr22:18339130..21151128 [GRCh38]
Chr22:18919942..21505417 [GRCh37]
Chr22:17299942..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss See cases [RCV000148104] Chr22:18339130..21151128 [GRCh38]
Chr22:18919942..21505417 [GRCh37]
Chr22:17299942..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 copy number gain See cases [RCV000148206] Chr22:18339130..21086225 [GRCh38]
Chr22:18919942..21440514 [GRCh37]
Chr22:17299942..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x1 copy number loss See cases [RCV000148160] Chr22:18339130..21207225 [GRCh38]
Chr22:18919942..21561514 [GRCh37]
Chr22:17299942..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18932429-20324240)x1 copy number loss See cases [RCV000148168] Chr22:18932429..20324240 [GRCh38]
Chr22:18919942..20311763 [GRCh37]
Chr22:17299942..18691763 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 copy number loss See cases [RCV000148136] Chr22:18339130..21086225 [GRCh38]
Chr22:18919942..21440514 [GRCh37]
Chr22:17299942..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21151128)x1 copy number loss See cases [RCV000148140] Chr22:18178957..21151128 [GRCh38]
Chr22:18661724..21505417 [GRCh37]
Chr22:17041724..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18145252-21151128)x1 copy number loss See cases [RCV000148178] Chr22:18145252..21151128 [GRCh38]
Chr22:18628019..21505417 [GRCh37]
Chr22:17008019..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21086225)x1 copy number loss See cases [RCV000148098] Chr22:18178957..21086225 [GRCh38]
Chr22:18661724..21440514 [GRCh37]
Chr22:17041724..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21207225)x1 copy number loss See cases [RCV000148186] Chr22:18178957..21207225 [GRCh38]
Chr22:18661724..21561514 [GRCh37]
Chr22:17041724..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss See cases [RCV000148100] Chr22:18339130..21151128 [GRCh38]
Chr22:18706001..21505417 [GRCh37]
Chr22:17086001..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 copy number loss See cases [RCV000148101] Chr22:18339130..21086225 [GRCh38]
Chr22:18706001..21440514 [GRCh37]
Chr22:17086001..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18167908-21101267)x3 copy number gain See cases [RCV000051273] Chr22:18167908..21101267 [GRCh38]
Chr22:18650675..21455556 [GRCh37]
Chr22:17030675..19785556 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18167908-21101267)x1 copy number loss See cases [RCV000051275] Chr22:18167908..21101267 [GRCh38]
Chr22:18650675..21455556 [GRCh37]
Chr22:17030675..19785556 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18177786-21101267)x3 copy number gain See cases [RCV000051276] Chr22:18177786..21101267 [GRCh38]
Chr22:18660553..21455556 [GRCh37]
Chr22:17040553..19785556 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18177786-21101267)x1 copy number loss See cases [RCV000051278] Chr22:18177786..21101267 [GRCh38]
Chr22:18660553..21455556 [GRCh37]
Chr22:17040553..19785556 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21086225)x1 copy number loss See cases [RCV000051283] Chr22:18178957..21086225 [GRCh38]
Chr22:18661724..21440514 [GRCh37]
Chr22:17041724..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18188862-21182552)x1 copy number loss See cases [RCV000051286] Chr22:18188862..21182552 [GRCh38]
Chr22:18671629..21536841 [GRCh37]
Chr22:17051629..19866841 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151269)x1 copy number loss See cases [RCV000051295] Chr22:18339130..21151269 [GRCh38]
Chr22:18705801..21505558 [GRCh37]
Chr22:17085801..19835558 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086366)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051296]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051296]|See cases [RCV000051296] Chr22:18339130..21086366 [GRCh38]
Chr22:18705801..21440655 [GRCh37]
Chr22:17085801..19770655 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1 copy number loss See cases [RCV000051297] Chr22:18339130..20343532 [GRCh38]
Chr22:18706001..20659606 [GRCh37]
Chr22:17086001..18989606 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x1 copy number loss See cases [RCV000051298] Chr22:18339130..21454720 [GRCh38]
Chr22:18706001..21809009 [GRCh37]
Chr22:17086001..20139009 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18886943-20318794)x1 copy number loss See cases [RCV000051299] Chr22:18886943..20318794 [GRCh38]
Chr22:18874456..20306317 [GRCh37]
Chr22:17254456..18686317 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18902758-20340590)x1 copy number loss See cases [RCV000051300] Chr22:18902758..20340590 [GRCh38]
Chr22:18890271..20328113 [GRCh37]
Chr22:17270271..18708113 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21107522)x1 copy number loss See cases [RCV000051301] Chr22:18339130..21107522 [GRCh38]
Chr22:18890271..21461811 [GRCh37]
Chr22:17270271..19791811 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1 copy number loss See cases [RCV000051319] Chr22:18339130..20343532 [GRCh38]
Chr22:18890271..20659606 [GRCh37]
Chr22:17270271..18989606 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21040441)x1 copy number loss See cases [RCV000051321] Chr22:18339130..21040441 [GRCh38]
Chr22:18890271..21394730 [GRCh37]
Chr22:17270271..19724730 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 copy number gain See cases [RCV000051323] Chr22:18339130..21086225 [GRCh38]
Chr22:18896972..21440514 [GRCh37]
Chr22:17276972..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 copy number loss See cases [RCV000051324] Chr22:18339130..21086225 [GRCh38]
Chr22:18896972..21440514 [GRCh37]
Chr22:17276972..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086366)x1 copy number loss See cases [RCV000051325] Chr22:18339130..21086366 [GRCh38]
Chr22:18919742..21440655 [GRCh37]
Chr22:17299742..19770655 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20671566)x1 copy number loss See cases [RCV000051327] Chr22:18339130..20671566 [GRCh38]
Chr22:18919742..21025854 [GRCh37]
Chr22:17299742..19355854 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151269)x1 copy number loss See cases [RCV000051328] Chr22:18339130..21151269 [GRCh38]
Chr22:18919742..21505558 [GRCh37]
Chr22:17299742..19835558 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss See cases [RCV000050388] Chr22:18339130..21151128 [GRCh38]
Chr22:18919942..21505417 [GRCh37]
Chr22:17299942..19835417 [NCBI36]
Chr22:22q11.21
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18178957-21151128)x3 copy number gain See cases [RCV000051170] Chr22:18178957..21151128 [GRCh38]
Chr22:18661724..21505417 [GRCh37]
Chr22:17041724..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss See cases [RCV000050550] Chr22:18339130..21151128 [GRCh38]
Chr22:18706001..21505417 [GRCh37]
Chr22:17086001..19835417 [NCBI36]
Chr22:22q11.21
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 copy number gain See cases [RCV000050991] Chr22:18339130..21086225 [GRCh38]
Chr22:18919942..21440514 [GRCh37]
Chr22:17299942..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20324240)x3 copy number gain See cases [RCV000050858] Chr22:16916608..20324240 [GRCh38]
Chr22:17397498..20311763 [GRCh37]
Chr22:15777498..18691763 [NCBI36]
Chr22:22q11.1-11.21
pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20324240)x1 copy number loss See cases [RCV000050859] Chr22:16916608..20324240 [GRCh38]
Chr22:17397498..20311763 [GRCh37]
Chr22:15777498..18691763 [NCBI36]
Chr22:22q11.1-11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 copy number loss See cases [RCV000051024] Chr22:18339130..21086225 [GRCh38]
Chr22:18706001..21440514 [GRCh37]
Chr22:17086001..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-21151128)x3 copy number gain See cases [RCV000050614] Chr22:16916608..21151128 [GRCh38]
Chr22:17397498..21505417 [GRCh37]
Chr22:15777498..19835417 [NCBI36]
Chr22:22q11.1-11.21
pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16538125-20363937)x1 copy number loss See cases [RCV000051270] Chr22:16538125..20363937 [GRCh38]
Chr22:17019015..20718227 [GRCh37]
Chr22:15399015..19048227 [NCBI36]
Chr22:22q11.1-11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18145052-21086366)x1 copy number loss See cases [RCV000051271] Chr22:18145052..21086366 [GRCh38]
Chr22:18627819..21440655 [GRCh37]
Chr22:17007819..19770655 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18145252-21151128)x1 copy number loss See cases [RCV000051272] Chr22:18145252..21151128 [GRCh38]
Chr22:18628019..21505417 [GRCh37]
Chr22:17008019..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18389245-21207225)x1 copy number loss See cases [RCV000050893] Chr22:18389245..21207225 [GRCh38]
Chr22:20659547..21561514 [GRCh37]
Chr22:18989547..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 copy number gain See cases [RCV000050271] Chr22:18339130..21207225 [GRCh38]
Chr22:18919942..21561514 [GRCh37]
Chr22:17299942..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x1 copy number loss See cases [RCV000050273] Chr22:18339130..21207225 [GRCh38]
Chr22:18919942..21561514 [GRCh37]
Chr22:17299942..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20671425)x1 copy number loss See cases [RCV000050290] Chr22:18339130..20671425 [GRCh38]
Chr22:18706001..21025713 [GRCh37]
Chr22:17086001..19355713 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3 copy number gain See cases [RCV000050768] Chr22:18178957..31821193 [GRCh38]
Chr22:18661724..32217179 [GRCh37]
Chr22:17041724..30547179 [NCBI36]
Chr22:22q11.21-12.3
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-20324240)x3 copy number gain See cases [RCV000051158] Chr22:18178957..20324240 [GRCh38]
Chr22:18661724..20311763 [GRCh37]
Chr22:17041724..18691763 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18169870-21559889)x3 copy number gain See cases [RCV000051918] Chr22:18169870..21559889 [GRCh38]
Chr22:18652637..21914178 [GRCh37]
Chr22:17032637..20244178 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21056995)x3 copy number gain See cases [RCV000051919] Chr22:18339130..21056995 [GRCh38]
Chr22:18704554..21411284 [GRCh37]
Chr22:17084554..19741284 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207381)x3 copy number gain See cases [RCV000051920] Chr22:18339130..21207381 [GRCh38]
Chr22:18705801..21561670 [GRCh37]
Chr22:17085801..19891670 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3 copy number gain See cases [RCV000051937] Chr22:18339130..21151128 [GRCh38]
Chr22:18890271..21505417 [GRCh37]
Chr22:17270271..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 copy number gain See cases [RCV000051938] Chr22:18339130..21207225 [GRCh38]
Chr22:18890271..21561514 [GRCh37]
Chr22:17270271..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21444466)x3 copy number gain See cases [RCV000051939] Chr22:18339130..21444466 [GRCh38]
Chr22:18909038..21798755 [GRCh37]
Chr22:17289038..20128755 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 copy number gain See cases [RCV000051940] Chr22:18339130..21086225 [GRCh38]
Chr22:18909038..21440514 [GRCh37]
Chr22:17289038..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18932229-20324381)x3 copy number gain See cases [RCV000051941] Chr22:18932229..20324381 [GRCh38]
Chr22:18919742..20311904 [GRCh37]
Chr22:17299742..18691904 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x3 copy number gain See cases [RCV000051942] Chr22:18339130..21101267 [GRCh38]
Chr22:18950766..21455556 [GRCh37]
Chr22:17330766..19785556 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20588575)x3 copy number gain See cases [RCV000051943] Chr22:18339130..20588575 [GRCh38]
Chr22:19168758..20942862 [GRCh37]
Chr22:17519027..19272862 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 copy number gain See cases [RCV000051944] Chr22:18339130..21207225 [GRCh38]
Chr22:20402633..21561514 [GRCh37]
Chr22:18782633..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21107522)x1 copy number loss See cases [RCV000053047] Chr22:18339130..21107522 [GRCh38]
Chr22:19035017..21461811 [GRCh37]
Chr22:17415017..19791811 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053048]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053048]|See cases [RCV000053048] Chr22:18339130..21151128 [GRCh38]
Chr22:19358153..21505417 [GRCh37]
Chr22:17738153..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20671425)x1 copy number loss See cases [RCV000053003] Chr22:18339130..20671425 [GRCh38]
Chr22:18919942..21025713 [GRCh37]
Chr22:17299942..19355713 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18932429-20324240)x1 copy number loss See cases [RCV000053004] Chr22:18932429..20324240 [GRCh38]
Chr22:18919942..20311763 [GRCh37]
Chr22:17299942..18691763 [NCBI36]
Chr22:22q11.21
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18339130-21151269)x1 copy number loss See cases [RCV000053006] Chr22:18339130..21151269 [GRCh38]
Chr22:18919942..21505558 [GRCh37]
Chr22:17299942..19835558 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18950648-20241494)x1 copy number loss See cases [RCV000053009] Chr22:18950648..20241494 [GRCh38]
Chr22:18938161..20229017 [GRCh37]
Chr22:17318161..18609017 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x3 copy number gain See cases [RCV000053012] Chr22:18339130..21101267 [GRCh38]
Chr22:18938161..21455556 [GRCh37]
Chr22:17318161..19785556 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x1 copy number loss See cases [RCV000053015] Chr22:18339130..21101267 [GRCh38]
Chr22:18938161..21455556 [GRCh37]
Chr22:17318161..19785556 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20641963)x1 copy number loss See cases [RCV000053025] Chr22:18339130..20641963 [GRCh38]
Chr22:18938161..20996250 [GRCh37]
Chr22:17318161..19326250 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x1 copy number loss See cases [RCV000053027] Chr22:18339130..21101267 [GRCh38]
Chr22:18962313..21455556 [GRCh37]
Chr22:17342313..19785556 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x1 copy number loss See cases [RCV000053029] Chr22:18339130..21101267 [GRCh38]
Chr22:18999803..21455556 [GRCh37]
Chr22:17379803..19785556 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss See cases [RCV000053032] Chr22:18339130..21151128 [GRCh38]
Chr22:19029602..21505417 [GRCh37]
Chr22:17409602..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20343532)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053103]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053103]|See cases [RCV000053103] Chr22:16916608..20343532 [GRCh38]
Chr22:17397498..20402677 [GRCh37]
Chr22:15777498..18782677 [NCBI36]
Chr22:22q11.1-11.21
pathogenic
GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3 copy number gain See cases [RCV000053104] Chr22:16916608..24358936 [GRCh38]
Chr22:17397498..24754904 [GRCh37]
Chr22:15777498..23084904 [NCBI36]
Chr22:22q11.1-11.23
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21207225)x1 copy number loss See cases [RCV000050360] Chr22:18178957..21207225 [GRCh38]
Chr22:18661724..21561514 [GRCh37]
Chr22:17041724..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3 copy number gain See cases [RCV000050628] Chr22:18339130..21454720 [GRCh38]
Chr22:18919942..21809009 [GRCh37]
Chr22:17299942..20139009 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 copy number loss See cases [RCV000050992] Chr22:18339130..21086225 [GRCh38]
Chr22:18919942..21440514 [GRCh37]
Chr22:17299942..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21151128)x1 copy number loss See cases [RCV000051171] Chr22:18178957..21151128 [GRCh38]
Chr22:18661724..21505417 [GRCh37]
Chr22:17041724..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3 copy number gain See cases [RCV000050387] Chr22:18339130..21151128 [GRCh38]
Chr22:18919942..21505417 [GRCh37]
Chr22:17299942..19835417 [NCBI36]
Chr22:22q11.21
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NC_000022.11:g.(?_19722428)_(19975757_?)del deletion DiGeorge Syndrome [RCV000708350] Chr22:19722428..19975757 [GRCh38]
Chr22:19709951..19963280 [GRCh37]
Chr22:22q11.21
pathogenic
NC_000022.11:g.(?_18159879)_(21387988_?)del deletion Schizophrenia [RCV000754241] Chr22:18159879..21387988 [GRCh38]
Chr22:22q11.21
pathogenic
NC_000022.11:g.(?_18163926)_(21277123_?)del deletion Schizophrenia [RCV000754242] Chr22:18163926..21277123 [GRCh38]
Chr22:22q11.21
pathogenic
NC_000022.11:g.(?_18802709)_(21343709_?)del deletion Schizophrenia [RCV000754243] Chr22:18802709..21343709 [GRCh38]
Chr22:22q11.21
pathogenic
NC_000022.11:g.(?_18832909)_(21123588_?)del deletion Schizophrenia [RCV000754244] Chr22:18832909..21123588 [GRCh38]
Chr22:22q11.21
pathogenic
NC_000022.11:g.(?_18880919)_(20346734_?)del deletion Schizophrenia [RCV000754246] Chr22:18880919..20346734 [GRCh38]
Chr22:22q11.21
pathogenic
NC_000022.11:g.(?_18880919)_(21123588_?)del deletion Schizophrenia [RCV000754247] Chr22:18880919..21123588 [GRCh38]
Chr22:22q11.21
pathogenic
Single allele duplication Autistic disorder [RCV000754248] Chr22:18904453..20324329 [GRCh38]
Chr22:22q11.21
pathogenic
Single allele duplication Autistic disorder [RCV000754249] Chr22:18904453..21277123 [GRCh38]
Chr22:22q11.21
pathogenic
Single allele duplication Autistic disorder [RCV000754250] Chr22:19295635..21510330 [GRCh38]
Chr22:22q11.21
pathogenic
NC_000022.11:g.(?_18846939)_(21221413_?)del deletion Schizophrenia [RCV000754245] Chr22:18846939..21221413 [GRCh38]
Chr22:22q11.21
pathogenic
NC_000022.11:g.(?_18159879)_(21362822_?)del deletion Schizophrenia [RCV000754240] Chr22:18159879..21362822 [GRCh38]
Chr22:22q11.21
pathogenic
NM_000754.4(COMT):c.483+8T>C single nucleotide variant not provided [RCV000926589] Chr22:19963767 [GRCh38]
Chr22:19951290 [GRCh37]
Chr22:22q11.21
likely benign
NM_000754.4(COMT):c.480C>G (p.Asp160Glu) single nucleotide variant Tramadol response [RCV001028879] Chr22:19963756 [GRCh38]
Chr22:19951279 [GRCh37]
Chr22:22q11.21
drug response

Additional Information

Database Acc Id Source(s)
COSMIC MIR4761 COSMIC
Ensembl Genes ENSG00000284031 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000585066 ENTREZGENE
GTEx ENSG00000284031 GTEx
HGNC ID HGNC:41591 ENTREZGENE
Human Proteome Map MIR4761 Human Proteome Map
miRBase MI0017402 ENTREZGENE
NCBI Gene 100616414 ENTREZGENE
RNAcentral URS00002F924F RNACentral
  URS000046C832 RNACentral
  URS000075D5DB RNACentral