MED15 (mediator complex subunit 15) - Rat Genome Database

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Gene: MED15 (mediator complex subunit 15) Homo sapiens
Analyze
Symbol: MED15
Name: mediator complex subunit 15
RGD ID: 1316826
HGNC Page HGNC:14248
Description: Predicted to enable transcription coregulator activity. Predicted to be involved in regulation of DNA-templated transcription. Predicted to act upstream of or within somatic stem cell population maintenance. Located in nucleoplasm. Part of core mediator complex. Implicated in schizophrenia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: activator-recruited cofactor 105 kDa component; activator-recruited cofactor, 105-kD; ARC105; CAG7A; CTG repeat protein 7a; CTG7A; DKFZp686A2214; DKFZp762B1216; FLJ42282; FLJ42935; mediator of RNA polymerase II transcription subunit 15; PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein; PC2 glutamine/Q-rich-associated protein; PC2-glutamine-rich-associated protein; PCQAP; positive cofactor 2 glutamine/Q-rich-associated protein; positive cofactor 2, glutamine/Q-rich-associated protein; TIG-1; TIG1; TNRC7; TPA inducible gene-1; TPA inducible protein; TPA-inducible gene 1 protein; trinucleotide repeat containing 7; trinucleotide repeat-containing gene 7 protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: MED15P1   MED15P3   MED15P4   MED15P5   MED15P7   MED15P8   MED15P9  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382220,507,610 - 20,587,619 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2220,495,913 - 20,587,632 (+)EnsemblGRCh38hg38GRCh38
GRCh372220,861,897 - 20,941,906 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362219,191,886 - 19,271,919 (+)NCBINCBI36Build 36hg18NCBI36
Build 342219,186,439 - 19,266,472NCBI
Celera224,352,845 - 4,432,848 (+)NCBICelera
Cytogenetic Map22q11.21NCBI
HuRef224,129,649 - 4,209,632 (+)NCBIHuRef
CHM1_12220,862,630 - 20,942,640 (+)NCBICHM1_1
T2T-CHM13v2.02220,916,219 - 20,996,263 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
core mediator complex  (IPI)
cytoplasm  (IEA)
membrane  (HDA)
nucleoplasm  (IDA,IEA,TAS)
nucleus  (IDA,IEA)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Association study between CAG trinucleotide repeats in the PCQAP gene (PC2 glutamine/Q-rich-associated protein) and schizophrenia. De Luca A, etal., Am J Med Genet B Neuropsychiatr Genet 2003 Jan 1;116(1):32-5.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. The Mediator complex and transcription regulation. Poss ZC, etal., Crit Rev Biochem Mol Biol. 2013 Nov-Dec;48(6):575-608. doi: 10.3109/10409238.2013.840259. Epub 2013 Oct 3.
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9225980   PMID:10235267   PMID:11024300   PMID:11414760   PMID:11559591   PMID:11834832   PMID:12167862   PMID:12477932   PMID:14657022   PMID:14691453   PMID:14702039   PMID:14983011  
PMID:15175163   PMID:15318033   PMID:15455391   PMID:15461802   PMID:15489334   PMID:15989967   PMID:16169070   PMID:16189514   PMID:16239144   PMID:16344560   PMID:16712791   PMID:16713569  
PMID:16799563   PMID:16904669   PMID:17135252   PMID:17500595   PMID:18029348   PMID:18385733   PMID:18418385   PMID:18568018   PMID:18854154   PMID:19946888   PMID:20025940   PMID:20098423  
PMID:20133760   PMID:20508642   PMID:20534441   PMID:20720539   PMID:21729782   PMID:21873635   PMID:22916034   PMID:22939629   PMID:23275444   PMID:23322298   PMID:23602568   PMID:23746844  
PMID:23749998   PMID:24374838   PMID:24882805   PMID:24981860   PMID:24999758   PMID:25281560   PMID:25791637   PMID:25893286   PMID:26186194   PMID:26318153   PMID:26344197   PMID:26377566  
PMID:26457685   PMID:26496610   PMID:27173435   PMID:27684187   PMID:27703004   PMID:27974704   PMID:28481362   PMID:28514442   PMID:28986522   PMID:29400661   PMID:29509190   PMID:29540532  
PMID:29568061   PMID:29581427   PMID:29656893   PMID:30196744   PMID:30554943   PMID:30884312   PMID:30945288   PMID:31182584   PMID:31527615   PMID:31828108   PMID:32344865   PMID:32382014  
PMID:32416067   PMID:32439976   PMID:32552912   PMID:32707033   PMID:32814053   PMID:33640491   PMID:33772081   PMID:33904398   PMID:33961781   PMID:34189442   PMID:34349018   PMID:34795231  
PMID:35016035   PMID:35140242   PMID:35198878   PMID:35271311   PMID:35439318   PMID:35563538   PMID:35944360   PMID:36215168   PMID:36997032   PMID:37689310   PMID:37827155   PMID:38280479  
PMID:38297188   PMID:38360978   PMID:39098523  


Genomics

Comparative Map Data
MED15
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382220,507,610 - 20,587,619 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2220,495,913 - 20,587,632 (+)EnsemblGRCh38hg38GRCh38
GRCh372220,861,897 - 20,941,906 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362219,191,886 - 19,271,919 (+)NCBINCBI36Build 36hg18NCBI36
Build 342219,186,439 - 19,266,472NCBI
Celera224,352,845 - 4,432,848 (+)NCBICelera
Cytogenetic Map22q11.21NCBI
HuRef224,129,649 - 4,209,632 (+)NCBIHuRef
CHM1_12220,862,630 - 20,942,640 (+)NCBICHM1_1
T2T-CHM13v2.02220,916,219 - 20,996,263 (+)NCBIT2T-CHM13v2.0
Med15
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391617,469,072 - 17,540,811 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1617,469,072 - 17,550,755 (-)EnsemblGRCm39 Ensembl
GRCm381617,651,208 - 17,722,947 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1617,651,208 - 17,732,891 (-)EnsemblGRCm38mm10GRCm38
MGSCv371617,651,314 - 17,723,023 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361617,564,785 - 17,611,257 (-)NCBIMGSCv36mm8
Celera1618,224,459 - 18,296,014 (-)NCBICelera
Cytogenetic Map16A3NCBI
cM Map1610.94NCBI
Med15
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81196,784,974 - 96,859,635 (+)NCBIGRCr8
mRatBN7.21183,280,722 - 83,356,006 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1183,280,762 - 83,355,362 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1192,008,658 - 92,082,830 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01184,669,811 - 84,743,990 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01183,723,426 - 83,797,605 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01187,553,868 - 87,628,631 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1187,553,868 - 87,628,502 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01190,606,469 - 90,681,242 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41185,270,503 - 85,344,999 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11185,299,560 - 85,384,726 (+)NCBI
Celera1182,052,699 - 82,127,011 (+)NCBICelera
Cytogenetic Map11q23NCBI
Med15
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544219,112,270 - 19,179,742 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544219,112,269 - 19,179,742 (+)NCBIChiLan1.0ChiLan1.0
MED15
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22330,116,981 - 30,210,038 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12232,664,022 - 32,757,053 (+)NCBINHGRI_mPanPan1
PanPan1.12219,191,880 - 19,272,884 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2219,192,156 - 19,271,965 (+)Ensemblpanpan1.1panPan2
MED15
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12630,299,424 - 30,368,460 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2630,299,442 - 30,367,572 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2630,258,317 - 30,327,156 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02631,707,993 - 31,776,853 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2631,707,980 - 31,776,849 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12629,753,891 - 29,822,740 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02629,378,095 - 29,446,935 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02630,467,664 - 30,536,521 (+)NCBIUU_Cfam_GSD_1.0
Med15
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118139,973,141 - 140,067,071 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366192,687,011 - 2,759,294 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366192,687,004 - 2,780,898 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MED15
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1450,703,019 - 50,759,310 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11450,703,010 - 50,759,310 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21454,266,459 - 54,318,847 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MED15
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1195,111,512 - 5,195,677 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl195,112,435 - 5,167,139 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660851,741,216 - 1,826,089 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Med15
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624945488,396 - 562,084 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MED15
40 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 22q11.21(chr22:18915347-21463730)x1 copy number loss VATER association [RCV000520380] Chr22:18915347..21463730 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21(chr22:18894835-21464119) copy number gain Global developmental delay [RCV001291954] Chr22:18894835..21464119 [GRCh37]
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(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 22q11.21(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(chr22:18389245-21207225)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 22q11.21-12.3(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(chr22:18339130-21151128)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(chr22:20394686-21145682)x3 copy number gain See cases [RCV000050725] Chr22:20394686..21145682 [GRCh38]
Chr22:20748976..21499971 [GRCh37]
Chr22:19078976..19829971 [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 22q11.21(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(chr22:18339130-21151128)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
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(chr22:18339130-21454720)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050630]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050630]|See cases [RCV000050630] Chr22:18339130..21454720 [GRCh38]
Chr22:18919942..21809009 [GRCh37]
Chr22:22q11.21		 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(chr22:18145052-21086366)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(chr22:18167908-21101267)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(chr22:18339130-21454720)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(chr22:18339130-21107522)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(chr22:18339130-21040441)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(chr22:18339130-21086225)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051023]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051023]|See cases [RCV000051023] Chr22:18339130..21086225 [GRCh38]
Chr22:18706001..21440514 [GRCh37]
Chr22:22q11.21		 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 22q11.21(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(chr22:18178957-21151128)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(chr22:20400132-21151128)x3 copy number gain See cases [RCV000051176] Chr22:20400132..21151128 [GRCh38]
Chr22:20754422..21505417 [GRCh37]
Chr22:19084422..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:20400132-21151128)x1 copy number loss See cases [RCV000051177] Chr22:20400132..21151128 [GRCh38]
Chr22:20754422..21505417 [GRCh37]
Chr22:19084422..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic|uncertain significance|conflicting data from submitters
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(chr22:18339130-21101267)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(chr22:18339130-21056995)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 22q11.1-11.23(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(chr22:18339130-21107522)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(chr22:20354600-21053401)x1 copy number loss See cases [RCV000053050] Chr22:20354600..21053401 [GRCh38]
Chr22:20708890..21407690 [GRCh37]
Chr22:19038890..19737690 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20363880-21073647)x1 copy number loss See cases [RCV000053053] Chr22:20363880..21073647 [GRCh38]
Chr22:20718170..21427936 [GRCh37]
Chr22:19048170..19757936 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20379137-21151128)x1 copy number loss See cases [RCV000053055] Chr22:20379137..21151128 [GRCh38]
Chr22:20733427..21505417 [GRCh37]
Chr22:19063427..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(chr22:18339130-21101267)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 22q11.21(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(chr22:18339130-21101267)x3 copy number gain See cases [RCV000053012] Chr22:18339130..21101267 [GRCh38]
Chr22:18938161..21455556 [GRCh37]
Chr22:17318161..19785556 [NCBI36]
Chr22:22q11.21		 pathogenic
NM_001003891.2(MED15):c.2239C>T (p.Pro747Ser) single nucleotide variant Malignant melanoma [RCV000063867] Chr22:20586576 [GRCh38]
Chr22:20940863 [GRCh37]
Chr22:19270863 [NCBI36]
Chr22:22q11.21		 not provided
GRCh37/hg19 22q11.21(chr22:18886915-21811991)x1 copy number loss See cases [RCV000663399] Chr22:18886915..21811991 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20733495-21463730)x1 copy number loss See cases [RCV000663402] Chr22:20733495..21463730 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_001003891.2(MED15):c.69-1274G>A single nucleotide variant Lung cancer [RCV000101975] Chr22:20535843 [GRCh38]
Chr22:20890130 [GRCh37]
Chr22:22q11.21		 uncertain significance
Single allele deletion Epilepsy [RCV001293366] Chr22:18889490..21463730 [GRCh37]
Chr22:22q11.21		 pathogenic
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(chr22:18389245-21086225)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
Single allele deletion Intellectual disability [RCV001293370] Chr22:18886915..21463730 [GRCh37]
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(chr22:18339130-21151128)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(chr22:18339130-21207225)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(chr22:20400132-21086225)x1 copy number loss See cases [RCV000133629] Chr22:20400132..21086225 [GRCh38]
Chr22:20754422..21440514 [GRCh37]
Chr22:19084422..19770514 [NCBI36]
Chr22:22q11.21		 conflicting interpretations of pathogenicity|conflicting data from submitters
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(chr22:18339130-21107463)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(chr22:18178932-21151156)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(chr22:18178932-21151156)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(chr22:18339130-21086226)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(chr22:18168847-21086166)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(chr22:18178957-21086225)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(chr22:18339130-21151128)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(chr22:20354600-21207225)x3 copy number gain See cases [RCV000136542] Chr22:20354600..21207225 [GRCh38]
Chr22:20708890..21561514 [GRCh37]
Chr22:19038890..19891514 [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(chr22:20400117-21086226)x1 copy number loss See cases [RCV000136039] Chr22:20400117..21086226 [GRCh38]
Chr22:20754407..21440515 [GRCh37]
Chr22:19084407..19770515 [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(chr22:18339130-21441926)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(chr22:18339130-21454720)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(chr22:18145252-21109830)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(chr22:18339130-21107522)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(chr22:18389245-21454720)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(chr22:20378147-21151128)x1 copy number loss See cases [RCV000138684] Chr22:20378147..21151128 [GRCh38]
Chr22:20732437..21505417 [GRCh37]
Chr22:19062437..19835417 [NCBI36]
Chr22:22q11.21		 uncertain significance
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(chr22:20375098-21111370)x3 copy number gain See cases [RCV000140073] Chr22:20375098..21111370 [GRCh38]
Chr22:20729388..21465659 [GRCh37]
Chr22:19059388..19795659 [NCBI36]
Chr22:22q11.21		 uncertain significance
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(chr22:18339130-21109830)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(chr22:20400132-21107463)x1 copy number loss See cases [RCV000140771] Chr22:20400132..21107463 [GRCh38]
Chr22:20754422..21461752 [GRCh37]
Chr22:19084422..19791752 [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(chr22:18339130-20686726)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(chr22:20540868-21020223)x3 copy number gain See cases [RCV000141594] Chr22:20540868..21020223 [GRCh38]
Chr22:20895155..21374512 [GRCh37]
Chr22:19225155..19704512 [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(chr22:18157962-21111370)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(chr22:18339130-20980781)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(chr22:18339130-21450597)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(chr22:20363364-21111373)x1 copy number loss See cases [RCV000142113] Chr22:20363364..21111373 [GRCh38]
Chr22:20717654..21465662 [GRCh37]
Chr22:19047654..19795662 [NCBI36]
Chr22:22q11.21		 uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:20362587-21111370)x3 copy number gain See cases [RCV000142179] Chr22:20362587..21111370 [GRCh38]
Chr22:20716877..21465659 [GRCh37]
Chr22:19046877..19795659 [NCBI36]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.21(chr22:20378147-21151128)x3 copy number gain See cases [RCV000142883] Chr22:20378147..21151128 [GRCh38]
Chr22:20732437..21505417 [GRCh37]
Chr22:19062437..19835417 [NCBI36]
Chr22:22q11.21		 uncertain significance
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(chr22:18389245-21151128)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(chr22:18178957-21151128)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(chr22:20400132-21151128)x1 copy number loss See cases [RCV000148143] Chr22:20400132..21151128 [GRCh38]
Chr22:20754422..21505417 [GRCh37]
Chr22:19084422..19835417 [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(chr22:18339130-21086225)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(chr22:20400132-21151128)x3 copy number gain See cases [RCV000148138] Chr22:20400132..21151128 [GRCh38]
Chr22:20754422..21505417 [GRCh37]
Chr22:19084422..19835417 [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(chr22:18178957-21207225)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(chr22:18178957-21086225)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(chr22:18339130-21151128)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
GRCh37/hg19 22q11.21-11.23(chr22:20749625-23972878)x1 copy number loss See cases [RCV000240250] Chr22:20749625..23972878 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.21(chr22:18894339-21440514)x1 copy number loss See cases [RCV000240142] Chr22:18894339..21440514 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18894339-21032422)x3 copy number gain See cases [RCV000240118] Chr22:18894339..21032422 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18900442-21440514)x1 copy number loss See cases [RCV000240087] Chr22:18900442..21440514 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:17012935-21431054)x4 copy number gain See cases [RCV000258792] Chr22:17012935..21431054 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18919579-21460595)x1 copy number loss See cases [RCV000258811] Chr22:18919579..21460595 [GRCh37]
Chr22:22q11.21		 pathogenic|likely pathogenic
GRCh37/hg19 22q11.21(chr22:18916843-21915509)x1 copy number loss not provided [RCV002473950] Chr22:18916843..21915509 [GRCh37]
Chr22:22q11.21		 pathogenic
Single allele duplication Autism spectrum disorder [RCV000225609] Chr22:18874965..21028946 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20220764-21024880)x3 copy number gain Premature ovarian failure [RCV000225115] Chr22:20220764..21024880 [GRCh37]
Chr22:22q11.21		 benign
GRCh37/hg19 22q11.21-12.1(chr22:18738296-25914592)x1 copy number loss Premature ovarian failure [RCV000225330] Chr22:18738296..25914592 [GRCh37]
Chr22:22q11.21-12.1		 benign
GRCh37/hg19 22q11.21(chr22:18894835-21440514)x1 copy number loss See cases [RCV000239867] Chr22:18894835..21440514 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18844632-21463730)x1 copy number loss See cases [RCV000239417] Chr22:18844632..21463730 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18661724-21025713)x3 copy number gain See cases [RCV000239914] Chr22:18661724..21025713 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.21(chr22:18650664-21440514)x3 copy number gain See cases [RCV000240570] Chr22:18650664..21440514 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3 copy number gain See cases [RCV000240348] Chr22:16054691..27296513 [GRCh37]
Chr22:22q11.1-12.1		 pathogenic
GRCh37/hg19 22q11.1-11.22(chr22:17264511-23238029)x3 copy number gain See cases [RCV000240483] Chr22:17264511..23238029 [GRCh37]
Chr22:22q11.1-11.22		 pathogenic
GRCh37/hg19 22q11.21(chr22:19023801-21440514)x1 copy number loss See cases [RCV000240303] Chr22:19023801..21440514 [GRCh37]
Chr22:22q11.21		 pathogenic
Single allele deletion DiGeorge syndrome [RCV001003853] Chr22:18475385..23764120 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.21(chr22:18640729-21465659)x3 copy number gain See cases [RCV000449438] Chr22:18640729..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21800471)x1 copy number loss See cases [RCV000449444] Chr22:18916842..21800471 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:19024656-21798907)x1 copy number loss See cases [RCV000449418] Chr22:19024656..21798907 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21465661)x1 copy number loss See cases [RCV000446325] Chr22:18916842..21465661 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.21(chr22:18970561-21465659)x3 copy number gain See cases [RCV000446476] Chr22:18970561..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21465659)x3 copy number gain See cases [RCV000447318] Chr22:18644790..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18917047-21465659)x1 copy number loss See cases [RCV000446495] Chr22:18917047..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18894339-21440455)x3 copy number gain See cases [RCV000446626] Chr22:18894339..21440455 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21465662)x1 copy number loss See cases [RCV000446673] Chr22:18648866..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21915509)x1 copy number loss See cases [RCV000447211] Chr22:18644790..21915509 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21465659)x1 copy number loss See cases [RCV000446125] Chr22:18916842..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:19024656-21465659)x3 copy number gain See cases [RCV000446638] Chr22:19024656..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic|likely pathogenic
GRCh37/hg19 22q11.21(chr22:19023801-21440455)x1 copy number loss See cases [RCV000446681] Chr22:19023801..21440455 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18890042-21440455)x1 copy number loss See cases [RCV000446730] Chr22:18890042..21440455 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21800797)x1 copy number loss See cases [RCV000446918] Chr22:18916842..21800797 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:19024792-21465659)x3 copy number gain See cases [RCV000446402] Chr22:19024792..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18937381-21465659)x3 copy number gain See cases [RCV000447496] Chr22:18937381..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18636748-21465659)x3 copy number gain See cases [RCV000447019] Chr22:18636748..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21465662)x1 copy number loss See cases [RCV000447026] Chr22:18916842..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20725308-21465659)x3 copy number gain See cases [RCV000446738] Chr22:20725308..21465659 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18644772-21041014)x3 copy number gain See cases [RCV000446741] Chr22:18644772..21041014 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21800471)x1 copy number loss See cases [RCV000446545] Chr22:18644790..21800471 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21798907)x1 copy number loss See cases [RCV000447063] Chr22:18648866..21798907 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18650664-21440455)x1 copy number loss See cases [RCV000446173] Chr22:18650664..21440455 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21465659)x1 copy number loss See cases [RCV000446944] Chr22:18648866..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18645353-21465662)x1 copy number loss See cases [RCV000447176] Chr22:18645353..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21798907)x1 copy number loss See cases [RCV000447508] Chr22:18644790..21798907 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21465659)x3 copy number gain See cases [RCV000445951] Chr22:18648866..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21915509)x1 copy number loss See cases [RCV000445962] Chr22:18916842..21915509 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21798907)x1 copy number loss See cases [RCV000445855] Chr22:18916842..21798907 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20717654-21465659)x3 copy number gain See cases [RCV000445676] Chr22:20717654..21465659 [GRCh37]
Chr22:22q11.21		 conflicting data from submitters
GRCh37/hg19 22q11.21(chr22:18916842-21465659)x3 copy number gain See cases [RCV000448486] Chr22:18916842..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18631979-21465659)x3 copy number gain See cases [RCV000448925] Chr22:18631979..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21800797)x1 copy number loss See cases [RCV000448538] Chr22:18648866..21800797 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21465662)x3 copy number gain See cases [RCV000448166] Chr22:18916842..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916827-21465662)x1 copy number loss See cases [RCV000447793] Chr22:18916827..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21465659)x1 copy number loss See cases [RCV000448762] Chr22:18644790..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18894339-21440455)x1 copy number loss See cases [RCV000448077] Chr22:18894339..21440455 [GRCh37]
Chr22:22q11.21		 pathogenic
NC_000022.10:g.(?_20721034)_(21460598_?)del deletion Schizophrenia [RCV000416918] Chr22:20721034..21460598 [GRCh37]
Chr22:19051034..19790598 [NCBI36]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.1-11.23(chr22:16888899-23723805)x3 copy number gain See cases [RCV000448224] Chr22:16888899..23723805 [GRCh37]
Chr22:22q11.1-11.23		 pathogenic
GRCh37/hg19 22q11.21(chr22:18650664-21440455)x3 copy number gain See cases [RCV000448770] Chr22:18650664..21440455 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:19024657-21465662)x1 copy number loss See cases [RCV000510463] Chr22:19024657..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18917047-21465659)x1 copy number loss See cases [RCV000510221] Chr22:18917047..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18917047-21465662)x1 copy number loss See cases [RCV000510658] Chr22:18917047..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20716876-21465662)x1 copy number loss See cases [RCV000510715] Chr22:20716876..21465662 [GRCh37]
Chr22:22q11.21		 likely benign
GRCh37/hg19 22q11.21(chr22:18916828-21049800)x1 copy number loss See cases [RCV000510907] Chr22:18916828..21049800 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20728956-21465659)x3 copy number gain See cases [RCV000510753] Chr22:20728956..21465659 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:20725308-21465659)x3 copy number gain See cases [RCV000510990] Chr22:20725308..21465659 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_001003891.3(MED15):c.1477G>T (p.Val493Leu) single nucleotide variant not specified [RCV004288872] Chr22:20582907 [GRCh38]
Chr22:20937194 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18609712-21408430) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767590] Chr22:18609712..21408430 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18893888-21481925)x1 copy number loss not provided [RCV003312569] Chr22:18893888..21481925 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21804716)x1 copy number loss See cases [RCV000512402] Chr22:18916842..21804716 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21465659)x3 copy number gain See cases [RCV000512387] Chr22:18644790..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18894835-21505417) copy number loss Ear malformation [RCV000626528] Chr22:18894835..21505417 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916827-21050078)x3 copy number gain not provided [RCV000684505] Chr22:18916827..21050078 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18970560-21465662)x3 copy number gain not provided [RCV000684508] Chr22:18970560..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18935463-21465659)x1 copy number loss not provided [RCV000684509] Chr22:18935463..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21465662)x1 copy number loss not provided [RCV000684510] Chr22:18916842..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916827-21465659)x3 copy number gain not provided [RCV000684511] Chr22:18916827..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18645353-21465659)x3 copy number gain not provided [RCV000684512] Chr22:18645353..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18644542-21465659)x1 copy number loss not provided [RCV000684513] Chr22:18644542..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:20716876-23819697)x1 copy number loss not provided [RCV000684515] Chr22:20716876..23819697 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21800797)x1 copy number loss not provided [RCV000684516] Chr22:18648866..21800797 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18626108-21800797)x1 copy number loss not provided [RCV000684517] Chr22:18626108..21800797 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21915509)x1 copy number loss not provided [RCV000684519] Chr22:18644790..21915509 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21798907)x1 copy number loss not provided [RCV000684514] Chr22:18916842..21798907 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20732808-21464764)x3 copy number gain not provided [RCV000684484] Chr22:20732808..21464764 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:20716876-21465662)x1 copy number loss not provided [RCV000684485] Chr22:20716876..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic|likely pathogenic
GRCh37/hg19 22q11.21(chr22:20716876-21798907)x1 copy number loss not provided [RCV000684489] Chr22:20716876..21798907 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20311903-21465659)x1 copy number loss not provided [RCV000684490] Chr22:20311903..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20311903-21800797)x1 copy number loss not provided [RCV000684498] Chr22:20311903..21800797 [GRCh37]
Chr22:22q11.21		 pathogenic
Single allele deletion 22q11.2 deletion syndrome [RCV003221321] Chr22:18274663..21110254 [GRCh38]
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)_(21123588_?)del deletion Schizophrenia [RCV000754247] Chr22:18880919..21123588 [GRCh38]
Chr22:22q11.21		 pathogenic
Single allele duplication Autism [RCV000754249] Chr22:18904453..21277123 [GRCh38]
Chr22:22q11.21		 pathogenic
Single allele duplication Autism [RCV000754250] Chr22:19295635..21510330 [GRCh38]
Chr22:22q11.21		 pathogenic
NC_000022.11:g.(?_20346735)_(21149007_?)del deletion Schizophrenia [RCV000754251] Chr22:20346735..21149007 [GRCh38]
Chr22:22q11.21		 likely pathogenic
NC_000022.11:g.(?_20346735)_(21277123_?)del deletion Schizophrenia [RCV000754252] Chr22:20346735..21277123 [GRCh38]
Chr22:22q11.21		 likely pathogenic
NC_000022.11:g.(?_20358985)_(21123588_?)del deletion Schizophrenia [RCV000754253] Chr22:20358985..21123588 [GRCh38]
Chr22:22q11.21		 likely 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
GRCh37/hg19 22q11.21(chr22:18675473-21465050)x3 copy number gain not provided [RCV000741726] Chr22:18675473..21465050 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18728118-21811991)x1 copy number loss not provided [RCV000741727] Chr22:18728118..21811991 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18844632-21463730)x3 copy number gain not provided [RCV000741728] Chr22:18844632..21463730 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18844632-21608479)x1 copy number loss not provided [RCV000741729] Chr22:18844632..21608479 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18861748-21463730)x1 copy number loss not provided [RCV000741730] Chr22:18861748..21463730 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18872508-21465050)x1 copy number loss not provided [RCV000741731] Chr22:18872508..21465050 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18875869-21470273)x1 copy number loss not provided [RCV000741733] Chr22:18875869..21470273 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18875956-21466715)x1 copy number loss not provided [RCV000741734] Chr22:18875956..21466715 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18878409-21465050)x1 copy number loss not provided [RCV000741735] Chr22:18878409..21465050 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18878409-21467387)x3 copy number gain not provided [RCV000741736] Chr22:18878409..21467387 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18878409-21907671)x1 copy number loss not provided [RCV000741737] Chr22:18878409..21907671 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18884401-21467387)x3 copy number gain not provided [RCV000741738] Chr22:18884401..21467387 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18886915-21463730)x1 copy number loss not provided [RCV000741739] Chr22:18886915..21463730 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18886915-21465050)x1 copy number loss not provided [RCV000741740] Chr22:18886915..21465050 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18886915-21467387)x1 copy number loss not provided [RCV000741741] Chr22:18886915..21467387 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18889490-21466715)x1 copy number loss not provided [RCV000741743] Chr22:18889490..21466715 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18891398-21463730)x3 copy number gain not provided [RCV000741744] Chr22:18891398..21463730 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:19016663-21463730)x1 copy number loss not provided [RCV000741747] Chr22:19016663..21463730 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.21(chr22:20711589-21465050)x3 copy number gain not provided [RCV000741762] Chr22:20711589..21465050 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:20733495-21039456)x3 copy number gain not provided [RCV000741763] Chr22:20733495..21039456 [GRCh37]
Chr22:22q11.21		 benign
GRCh37/hg19 22q11.21(chr22:20733495-21463730)x1 copy number loss not provided [RCV000741764] Chr22:20733495..21463730 [GRCh37]
Chr22:22q11.21		 likely benign
GRCh37/hg19 22q11.21(chr22:20733495-21467387)x3 copy number gain not provided [RCV000741765] Chr22:20733495..21467387 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:20796175-21608479)x1 copy number loss not provided [RCV000741766] Chr22:20796175..21608479 [GRCh37]
Chr22:22q11.21		 benign
GRCh37/hg19 22q11.21(chr22:20920805-20978977)x0 copy number loss not provided [RCV000741767] Chr22:20920805..20978977 [GRCh37]
Chr22:22q11.21		 benign
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.21(chr22:18636749-21800471)x1 copy number loss Velocardiofacial syndrome [RCV000788059] Chr22:18636749..21800471 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18919477-21800471)x1 copy number loss Velocardiofacial syndrome [RCV000788060] Chr22:18919477..21800471 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18648855-21461017)x3 copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000788061] Chr22:18648855..21461017 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18648855-21927646)x3 copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000788063] Chr22:18648855..21927646 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18631364-21800471)x1 copy number loss Velocardiofacial syndrome [RCV000788057] Chr22:18631364..21800471 [GRCh37]
Chr22:22q11.21		 pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787412] Chr22:18890264..21540347 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_001003891.3(MED15):c.156+8_156+11dup duplication not provided [RCV000949863] Chr22:20537211..20537212 [GRCh38]
Chr22:20891498..20891499 [GRCh37]
Chr22:22q11.21		 benign
NM_001003891.3(MED15):c.943C>A (p.Pro315Thr) single nucleotide variant Aganglionic megacolon [RCV000984696] Chr22:20566719 [GRCh38]
Chr22:20921006 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18901004-21408430) copy number loss DiGeorge syndrome [RCV000767594] Chr22:18901004..21408430 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18912403-21431174) copy number loss DiGeorge syndrome [RCV000767629] Chr22:18912403..21431174 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18912231-21465672)x1 copy number loss Velocardiofacial syndrome [RCV000788056] Chr22:18912231..21465672 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18922151-21449911)x1 copy number loss Velocardiofacial syndrome [RCV000788058] Chr22:18922151..21449911 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18923898-21431174) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767630] Chr22:18923898..21431174 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18611223-21408430) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767591] Chr22:18611223..21408430 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18650745-21460220) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767592] Chr22:18650745..21460220 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18650803-21386010) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767595] Chr22:18650803..21386010 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18892575-21460220) copy number loss DiGeorge syndrome [RCV000767692] Chr22:18892575..21460220 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20729388-21454872)x3 copy number gain 22q11.2 central duplication syndrome [RCV000788071] Chr22:20729388..21454872 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18900755-21800277) copy number loss DiGeorge syndrome [RCV000767747] Chr22:18900755..21800277 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18661724-21505417)x1 copy number loss Velocardiofacial syndrome [RCV000856641] Chr22:18661724..21505417 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18892575-21460220) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767596] Chr22:18892575..21460220 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18900755-21075586) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767598] Chr22:18900755..21075586 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18912870-21431174) copy number loss DiGeorge syndrome [RCV000767633] Chr22:18912870..21431174 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18650803-21460220) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767593] Chr22:18650803..21460220 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18912514-21922035) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767627] Chr22:18912514..21922035 [GRCh37]
Chr22:22q11.21		 pathogenic
Single allele deletion Chromosome 22q11.2 deletion syndrome, distal [RCV003232577] Chr22:18985739..21081116 [GRCh38]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18892575-21460220) copy number loss DiGeorge syndrome [RCV000767687] Chr22:18892575..21460220 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18912514-21431174) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767689] Chr22:18912514..21431174 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_001003891.3(MED15):c.524C>T (p.Ala175Val) single nucleotide variant not specified [RCV004332890] Chr22:20564522 [GRCh38]
Chr22:20918809 [GRCh37]
Chr22:22q11.21		 likely benign
GRCh37/hg19 22q11.21(chr22:18889490-21917190)x1 copy number loss See cases [RCV000790601] Chr22:18889490..21917190 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20717654-21465662)x3 copy number gain not provided [RCV000848729] Chr22:20717654..21465662 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:20918735-20940991)x1 copy number loss not provided [RCV000997960] Chr22:20918735..20940991 [GRCh37]
Chr22:22q11.21		 uncertain significance
Single allele duplication Neurodevelopmental disorder [RCV000787416] Chr22:18890264..21464056 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21(chr22:19819477-21464764)x3 copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000788064] Chr22:19819477..21464764 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20729388-21465662)x1 copy number loss not provided [RCV000849720] Chr22:20729388..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21033371)x1 copy number loss not provided [RCV001007165] Chr22:18916842..21033371 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18970561-21040836)x3 copy number gain not provided [RCV001007167] Chr22:18970561..21040836 [GRCh37]
Chr22:22q11.21		 pathogenic
Single allele deletion Deep venous thrombosis [RCV000852271] Chr22:19710418..21142058 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21(chr22:20716876-21800471)x1 copy number loss 22q11.2 central deletion syndrome [RCV000788066] Chr22:20716876..21800471 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21(chr22:20921342-21459713)x1 copy number loss 22q11.2 central deletion syndrome [RCV000788068] Chr22:20921342..21459713 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21(chr22:18937380-21459713)x3 copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000788062] Chr22:18937380..21459713 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20716876-21800471)x1 copy number loss 22q11.2 central deletion syndrome [RCV000788067] Chr22:20716876..21800471 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21(chr22:20732808-21465659)x3 copy number gain not provided [RCV000846336] Chr22:20732808..21465659 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:20728956-21465662)x3 copy number gain not provided [RCV000845862] Chr22:20728956..21465662 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:20716876-21465659)x1 copy number loss not provided [RCV000847762] Chr22:20716876..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
Single allele deletion Abnormal bleeding [RCV000852267] Chr22:19709400..21142058 [GRCh37]
Chr22:22q11.21		 likely pathogenic
NC_000022.11:g.18948676_21110520dup duplication Chromosome 22q11.2 microduplication syndrome [RCV003313910] Chr22:18948676..21110520 [GRCh38]
Chr22:22q11.21		 pathogenic
NM_001003891.3(MED15):c.1375G>T (p.Gly459Cys) single nucleotide variant not specified [RCV004317151] Chr22:20582713 [GRCh38]
Chr22:20937000 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_001003891.3(MED15):c.2020A>G (p.Ile674Val) single nucleotide variant not specified [RCV004302193] Chr22:20585156 [GRCh38]
Chr22:20939443 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_001003891.3(MED15):c.1211C>T (p.Thr404Ile) single nucleotide variant not specified [RCV004298393] Chr22:20575171 [GRCh38]
Chr22:20929458 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_001003891.3(MED15):c.1804-19G>A single nucleotide variant not provided [RCV001638701] Chr22:20584836 [GRCh38]
Chr22:20939123 [GRCh37]
Chr22:22q11.21		 benign
NM_001003891.3(MED15):c.903G>A (p.Pro301=) single nucleotide variant not provided [RCV000883107] Chr22:20566679 [GRCh38]
Chr22:20920966 [GRCh37]
Chr22:22q11.21		 likely benign
GRCh37/hg19 22q11.21(chr22:18916842-21075592)x1 copy number loss not provided [RCV001007166] Chr22:18916842..21075592 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20728956-21465662)x3 copy number gain Oppositional defiant disorder [RCV001030055] Chr22:20728956..21465662 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:19647905-21153690)x1 copy number loss not provided [RCV002472681] Chr22:19647905..21153690 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20725309-21804563)x1 copy number loss not provided [RCV002472527] Chr22:20725309..21804563 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21(chr22:18648867-21798907)x3 copy number gain not provided [RCV002473937] Chr22:18648867..21798907 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16888899-26483608)x3 copy number gain Cat eye syndrome [RCV001263219] Chr22:16888899..26483608 [GRCh37]
Chr22:22q11.1-12.1		 pathogenic
GRCh37/hg19 22q11.1-11.22(chr22:16888899-22290476)x3 copy number gain not provided [RCV001007162] Chr22:16888899..22290476 [GRCh37]
Chr22:22q11.1-11.22		 pathogenic
Single allele deletion Inherited Immunodeficiency Diseases [RCV001027643] Chr22:18789965..21591197 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16888899-27657507)x3 copy number gain not provided [RCV001007163] Chr22:16888899..27657507 [GRCh37]
Chr22:22q11.1-12.1		 pathogenic
GRCh37/hg19 22q11.21(chr22:18844632-21797812)x1 copy number loss See cases [RCV001194550] Chr22:18844632..21797812 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20730996-21465342)x1 copy number loss not provided [RCV001537923] Chr22:20730996..21465342 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18886915-21463730)x1 copy number loss See cases [RCV001194516] Chr22:18886915..21463730 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18912403-21431174) copy number loss DiGeorge syndrome [RCV001195119] Chr22:18912403..21431174 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:20732808-25193541)x3 copy number gain not provided [RCV001007169] Chr22:20732808..25193541 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.21(chr22:18886915-21463730)x1 copy number loss See cases [RCV001194533] Chr22:18886915..21463730 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18889693-21465485)x1 copy number loss not provided [RCV001537920] Chr22:18889693..21465485 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18889571-21464697)x1 copy number loss not provided [RCV001537922] Chr22:18889571..21464697 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20818353-21465659)x3 copy number gain not provided [RCV001259983] Chr22:20818353..21465659 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18628147-21722313)x3 copy number gain See cases [RCV001263041] Chr22:18628147..21722313 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18765102-21661435)x1 copy number loss See cases [RCV001263047] Chr22:18765102..21661435 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21798907) copy number loss DiGeorge syndrome [RCV002280729] Chr22:18916842..21798907 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:19024656-21465662)x3 copy number gain not provided [RCV001259978] Chr22:19024656..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21011216)x1 copy number loss not provided [RCV001259980] Chr22:18916842..21011216 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18909044-21464119) copy number gain Cryptorchidism [RCV001291958] Chr22:18909044..21464119 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20754407-21457610)x1 copy number loss See cases [RCV001263048] Chr22:20754407..21457610 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21(chr22:18661699-21457610)x1 copy number loss See cases [RCV001263054] Chr22:18661699..21457610 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.21(chr22:18841374-21465101)x3 copy number gain not provided [RCV001537919] Chr22:18841374..21465101 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21465659)x4 copy number gain not provided [RCV001259979] Chr22:18648866..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:19035089-22672555)x3 copy number gain not provided [RCV001259984] Chr22:19035089..22672555 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
NC_000022.10:g.(?_18900688)_(21351637_?)del deletion DiGeorge syndrome [RCV001383366]|not provided [RCV001871994] Chr22:18900688..21351637 [GRCh37]
Chr22:22q11.21		 pathogenic|no classifications from unflagged records
GRCh37/hg19 22q11.21(chr22:18886915-21461017)x3 copy number gain Epilepsy [RCV001293650] Chr22:18886915..21461017 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16800000-21500000)x4 copy number gain not provided [RCV001270641] Chr22:16800000..21500000 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18889977-21463189)x3 copy number gain not provided [RCV001537921] Chr22:18889977..21463189 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18889950-21466053)x1 copy number loss not provided [RCV001270642] Chr22:18889950..21466053 [GRCh37]
Chr22:22q11.21		 pathogenic
Single allele deletion DiGeorge syndrome [RCV001391675] Chr22:18893882..21563420 [GRCh37]
Chr22:22q11.21		 pathogenic
Single allele deletion DiGeorge syndrome [RCV001391672] Chr22:18893882..21571027 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_001003891.3(MED15):c.1673-16C>T single nucleotide variant not provided [RCV001674961] Chr22:20583314 [GRCh38]
Chr22:20937601 [GRCh37]
Chr22:22q11.21		 benign
GRCh37/hg19 22q11.21(chr22:18889969-21462658)x1 copy number loss See cases [RCV001526484] Chr22:18889969..21462658 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20737912-21465659)x3 copy number gain See cases [RCV001526487] Chr22:20737912..21465659 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18884514-21484289)x1 copy number loss See cases [RCV002246175] Chr22:18884514..21484289 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20716876-20935731)x3 copy number gain not provided [RCV001834311] Chr22:20716876..20935731 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:19036286-21208284)x1 copy number loss Schizophrenia [RCV001801223] Chr22:19036286..21208284 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18873001-21469900) copy number gain Cerebral palsy [RCV001796564] Chr22:18873001..21469900 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18660135-21737597)x1 copy number loss Chromosome 22q11.2 deletion syndrome, distal [RCV001801214] Chr22:18660135..21737597 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18884714-21483289)x1 copy number loss See cases [RCV001780077] Chr22:18884714..21483289 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-21915509) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV002280738] Chr22:16888899..21915509 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
NC_000022.10:g.18861209_21630630del deletion Megacolon [RCV001290034] Chr22:18861209..21630630 [GRCh37]
Chr22:22q11.21		 likely pathogenic
Single allele duplication Chromosome 22q11.2 microduplication syndrome [RCV003232578] Chr22:18985739..21081116 [GRCh38]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20728957-21915096)x1 copy number loss not provided [RCV001827860] Chr22:20728957..21915096 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20717655-21465662)x3 copy number gain not provided [RCV001827891] Chr22:20717655..21465662 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18644790-21800471) copy number loss DiGeorge syndrome [RCV002280730] Chr22:18644790..21800471 [GRCh37]
Chr22:22q11.21		 pathogenic
NC_000022.10:g.(?_18900688)_(21351637_?)dup duplication DiGeorge syndrome [RCV001952526] Chr22:18900688..21351637 [GRCh37]
Chr22:22q11.21		 uncertain significance
NC_000022.11:g.18948676_21110520del deletion Velocardiofacial syndrome [RCV003318485] Chr22:18948676..21110520 [GRCh38]
Chr22:22q11.21		 pathogenic
Single allele deletion Velocardiofacial syndrome [RCV002247726] Chr22:18948677..21110520 [GRCh38]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18718028-21326012)x1 copy number loss See cases [RCV002246178] Chr22:18718028..21326012 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18893888-21414817)x3 copy number gain not provided [RCV002293073] Chr22:18893888..21414817 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21798907) copy number loss DiGeorge syndrome [RCV002280728] Chr22:18644790..21798907 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18893888-21414817)x1 copy number loss not provided [RCV002276112] Chr22:18893888..21414817 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21465659)x1 copy number loss See cases [RCV002292204] Chr22:18916842..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20732808-21800471)x1 copy number loss See cases [RCV002287834] Chr22:20732808..21800471 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18718623-21563155)x1 copy number loss Syndromic anorectal malformation [RCV002286609] Chr22:18718623..21563155 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21(chr22:20725308-21465659)x1 copy number loss See cases [RCV002292208] Chr22:20725308..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18644542-21465659)x1 copy number loss See cases [RCV002287573] Chr22:18644542..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20310410-21804886)x1 copy number loss See cases [RCV002286345] Chr22:20310410..21804886 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18893344-21650280) copy number loss DiGeorge syndrome [RCV002280732] Chr22:18893344..21650280 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20732808-21465659) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV002280734] Chr22:20732808..21465659 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21(chr22:18645353-21800797) copy number loss DiGeorge syndrome [RCV002280727] Chr22:18645353..21800797 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21798907) copy number loss DiGeorge syndrome [RCV002280731] Chr22:18648866..21798907 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18917047-21465659) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV002280735] Chr22:18917047..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916827-21804886) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV002280737] Chr22:18916827..21804886 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18644702-21467607)x1 copy number loss Syndromic anorectal malformation [RCV002286606] Chr22:18644702..21467607 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20732808-21465659)x1 copy number loss See cases [RCV002287641] Chr22:20732808..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_001003891.3(MED15):c.2215C>T (p.Arg739Trp) single nucleotide variant not specified [RCV004311558] Chr22:20585811 [GRCh38]
Chr22:20940098 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_001003891.3(MED15):c.331G>A (p.Gly111Ser) single nucleotide variant not specified [RCV004322639] Chr22:20555028 [GRCh38]
Chr22:20909315 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18916843-21075592)x1 copy number loss not provided [RCV002474582] Chr22:18916843..21075592 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916843-21465659)x1 copy number loss not provided [RCV002474586] Chr22:18916843..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20716877-21465659)x1 copy number loss not provided [RCV002474587] Chr22:20716877..21465659 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21(chr22:19046677-21465662)x1 copy number loss not provided [RCV002473738] Chr22:19046677..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20728957-21798907)x1 copy number loss not provided [RCV002472521] Chr22:20728957..21798907 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916843-21800471)x1 copy number loss not provided [RCV002472532] Chr22:18916843..21800471 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18644791-21041014)x1 copy number loss not provided [RCV002474720] Chr22:18644791..21041014 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916843-21033401)x1 copy number loss not provided [RCV002472535] Chr22:18916843..21033401 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20725318-21800797)x1 copy number loss not provided [RCV002474535] Chr22:20725318..21800797 [GRCh37]
Chr22:22q11.21		 likely pathogenic
NM_001003891.3(MED15):c.751CAG[15] (p.Gln262_Ala263insGlnGlnGln) microsatellite Hepatocellular carcinoma [RCV002302719] Chr22:20566526..20566527 [GRCh38]
Chr22:20920813..20920814 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:19336598-21208828)x1 copy number loss not provided [RCV002474524] Chr22:19336598..21208828 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916828-21800797)x1 copy number loss not provided [RCV002473925] Chr22:18916828..21800797 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18644543-21800797)x1 copy number loss not provided [RCV002473959] Chr22:18644543..21800797 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916843-21798907)x3 copy number gain not provided [RCV002472508] Chr22:18916843..21798907 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18648867-21465659)x1 copy number loss not provided [RCV002472511] Chr22:18648867..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916843-21804563)x3 copy number gain not provided [RCV002472525] Chr22:18916843..21804563 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20728957-21800797)x1 copy number loss not provided [RCV002472554] Chr22:20728957..21800797 [GRCh37]
Chr22:22q11.21		 likely pathogenic
NM_001003891.3(MED15):c.751CAG[11] (p.Gln262del) microsatellite Hepatocellular carcinoma [RCV002302687] Chr22:20566527..20566529 [GRCh38]
Chr22:20920814..20920816 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_001003891.3(MED15):c.633GCA[7] (p.Gln218del) microsatellite Hepatocellular carcinoma [RCV002302702] Chr22:20564629..20564631 [GRCh38]
Chr22:20918916..20918918 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_001003891.3(MED15):c.633GCA[9] (p.Gln218_His219insGln) microsatellite not provided [RCV003437486] Chr22:20564628..20564629 [GRCh38]
Chr22:20918915..20918916 [GRCh37]
Chr22:22q11.21		 pathogenic|likely benign
NM_001003891.3(MED15):c.534GCA[6] (p.Gln188del) microsatellite Hepatocellular carcinoma [RCV002302741] Chr22:20564530..20564532 [GRCh38]
Chr22:20918817..20918819 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_001003891.3(MED15):c.751CAG[13] (p.Gln262_Ala263insGln) microsatellite Hepatocellular carcinoma [RCV002302688] Chr22:20566526..20566527 [GRCh38]
Chr22:20920813..20920814 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18834445-21414817)x1 copy number loss not provided [RCV002512210] Chr22:18834445..21414817 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18894078-21414817)x1 copy number loss not provided [RCV002512212] Chr22:18894078..21414817 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_001003891.3(MED15):c.332G>A (p.Gly111Asp) single nucleotide variant not specified [RCV004146285] Chr22:20555029 [GRCh38]
Chr22:20909316 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_001003891.3(MED15):c.820C>T (p.Pro274Ser) single nucleotide variant not specified [RCV004097631] Chr22:20566596 [GRCh38]
Chr22:20920883 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18893888-21570386)x1 copy number loss not provided [RCV002512211] Chr22:18893888..21570386 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_001003891.3(MED15):c.1564G>A (p.Ala522Thr) single nucleotide variant not specified [RCV004204091] Chr22:20583139 [GRCh38]
Chr22:20937426 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:19184000-21416024)x1 copy number loss not provided [RCV002512213] Chr22:19184000..21416024 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_001003891.3(MED15):c.262C>G (p.Leu88Val) single nucleotide variant not specified [RCV004189521] Chr22:20554959 [GRCh38]
Chr22:20909246 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_001003891.3(MED15):c.2320A>G (p.Asn774Asp) single nucleotide variant not specified [RCV004162054] Chr22:20586657 [GRCh38]
Chr22:20940944 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_001003891.3(MED15):c.1950C>A (p.His650Gln) single nucleotide variant not specified [RCV004222876] Chr22:20585001 [GRCh38]
Chr22:20939288 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_001003891.3(MED15):c.345C>G (p.Ser115Arg) single nucleotide variant not specified [RCV004241387] Chr22:20555042 [GRCh38]
Chr22:20909329 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_001003891.3(MED15):c.1757A>G (p.Gln586Arg) single nucleotide variant not specified [RCV004155085] Chr22:20584379 [GRCh38]
Chr22:20938666 [GRCh37]
Chr22:22q11.21		 uncertain significance
Single allele deletion See cases [RCV003154622] Chr22:18893886..21386103 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_001003891.3(MED15):c.1889G>A (p.Arg630His) single nucleotide variant not specified [RCV004279730] Chr22:20584940 [GRCh38]
Chr22:20939227 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_001003891.3(MED15):c.1189A>G (p.Ile397Val) single nucleotide variant not specified [RCV004267710] Chr22:20575149 [GRCh38]
Chr22:20929436 [GRCh37]
Chr22:22q11.21		 likely benign
NM_001003891.3(MED15):c.1579G>A (p.Ala527Thr) single nucleotide variant not specified [RCV004282634] Chr22:20583154 [GRCh38]
Chr22:20937441 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.21(chr22:20354589-21405291) copy number loss 22q11.2 central deletion syndrome [RCV003223565] Chr22:20354589..21405291 [GRCh38]
Chr22:22q11.21		 uncertain significance
NM_001003891.3(MED15):c.2324C>A (p.Thr775Asn) single nucleotide variant not specified [RCV004328638] Chr22:20586661 [GRCh38]
Chr22:20940948 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.21(chr22:18985739-21081116)x1 copy number loss DiGeorge syndrome [RCV003327705] Chr22:18985739..21081116 [GRCh38]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20609932-21576553)x1 copy number loss Chromosome 22q11.2 deletion syndrome, distal [RCV003329503] Chr22:20609932..21576553 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18893838-21416074)x3 copy number gain Chromosome 22q11.2 deletion syndrome, distal [RCV003329514]|Velocardiofacial syndrome [RCV003329513] Chr22:18893838..21416074 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_001003891.3(MED15):c.787G>A (p.Ala263Thr) single nucleotide variant not specified [RCV004346473] Chr22:20566563 [GRCh38]
Chr22:20920850 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18893888-21563415)x1 copy number loss not provided [RCV003457105] Chr22:18893888..21563415 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:17832142-20945625)x1 copy number loss not provided [RCV003483389] Chr22:17832142..20945625 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
NM_001003891.3(MED15):c.2232C>T (p.Asp744=) single nucleotide variant not provided [RCV003437488] Chr22:20586569 [GRCh38]
Chr22:20940856 [GRCh37]
Chr22:22q11.21		 likely benign
GRCh38/hg38 22q11.21(chr22:18856290-21070117)x3 copy number gain Microcephaly-digital anomalies-intellectual disability syndrome [RCV003444168] Chr22:18856290..21070117 [GRCh38]
Chr22:22q11.21		 pathogenic
NM_001003891.3(MED15):c.629_655del (p.Leu210_Gln218del) deletion not provided [RCV003437485] Chr22:20564610..20564636 [GRCh38]
Chr22:20918897..20918923 [GRCh37]
Chr22:22q11.21		 benign
NM_001003891.3(MED15):c.751CAG[9] (p.Gln260_Gln262del) microsatellite not provided [RCV003437487] Chr22:20566527..20566535 [GRCh38]
Chr22:20920814..20920822 [GRCh37]
Chr22:22q11.21		 likely benign
NM_001003891.3(MED15):c.387G>A (p.Pro129=) single nucleotide variant not provided [RCV003431646] Chr22:20555084 [GRCh38]
Chr22:20909371 [GRCh37]
Chr22:22q11.21		 likely benign
GRCh37/hg19 22q11.21(chr22:18649190-21800471)x3 copy number gain not provided [RCV004442843] Chr22:18649190..21800471 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20730144-21464764)x1 copy number loss See cases [RCV004442797] Chr22:20730144..21464764 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_001003891.3(MED15):c.1951G>A (p.Gly651Ser) single nucleotide variant not specified [RCV004421810] Chr22:20585002 [GRCh38]
Chr22:20939289 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_001003891.3(MED15):c.2257C>T (p.His753Tyr) single nucleotide variant not specified [RCV004421811] Chr22:20586594 [GRCh38]
Chr22:20940881 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:20716877-21800471)x1 copy number loss not provided [RCV004442740] Chr22:20716877..21800471 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18919478-21927646)x3 copy number gain not provided [RCV004442756] Chr22:18919478..21927646 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18649190-21022258)x3 copy number gain See cases [RCV004442816] Chr22:18649190..21022258 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20723686-21800471)x1 copy number loss not provided [RCV004442815] Chr22:20723686..21800471 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_001003891.3(MED15):c.172C>G (p.Leu58Val) single nucleotide variant not specified [RCV004421809] Chr22:20551451 [GRCh38]
Chr22:20905738 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_001003891.3(MED15):c.2338G>A (p.Val780Ile) single nucleotide variant not specified [RCV004421813] Chr22:20586675 [GRCh38]
Chr22:20940962 [GRCh37]
Chr22:22q11.21		 likely benign
NM_001003891.3(MED15):c.301A>T (p.Met101Leu) single nucleotide variant not specified [RCV004421814] Chr22:20554998 [GRCh38]
Chr22:20909285 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18919478-21461017)x3 copy number gain not provided [RCV004442819] Chr22:18919478..21461017 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_001003891.3(MED15):c.1214C>T (p.Thr405Ile) single nucleotide variant not specified [RCV004421806] Chr22:20575174 [GRCh38]
Chr22:20929461 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_001003891.3(MED15):c.355A>G (p.Met119Val) single nucleotide variant not specified [RCV004421815] Chr22:20555052 [GRCh38]
Chr22:20909339 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18648856-21800471)x1 copy number loss See cases [RCV004442844] Chr22:18648856..21800471 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_001003891.3(MED15):c.916C>T (p.Gln306Ter) single nucleotide variant not provided [RCV004554976] Chr22:20566692 [GRCh38]
Chr22:20920979 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:20730747-21465668)x3 copy number gain not provided [RCV004577451] Chr22:20730747..21465668 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:19016502-21464637)x1 copy number loss not provided [RCV004577504] Chr22:19016502..21464637 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18888685-21465668)x1 copy number loss not provided [RCV004577450] Chr22:18888685..21465668 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_001003891.3(MED15):c.1405G>A (p.Val469Ile) single nucleotide variant not specified [RCV004638127] Chr22:20582743 [GRCh38]
Chr22:20937030 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_001003891.3(MED15):c.2108C>T (p.Thr703Ile) single nucleotide variant not specified [RCV004638128] Chr22:20585244 [GRCh38]
Chr22:20939531 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_001003891.3(MED15):c.248A>G (p.Asn83Ser) single nucleotide variant not specified [RCV004628715] Chr22:20554945 [GRCh38]
Chr22:20909232 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_001003891.3(MED15):c.860C>G (p.Pro287Arg) single nucleotide variant not specified [RCV004628716] Chr22:20566636 [GRCh38]
Chr22:20920923 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_001003891.3(MED15):c.13G>C (p.Gly5Arg) single nucleotide variant not specified [RCV004645098] Chr22:20507691 [GRCh38]
Chr22:20861978 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_001003891.3(MED15):c.1442T>C (p.Leu481Pro) single nucleotide variant not specified [RCV004645099] Chr22:20582872 [GRCh38]
Chr22:20937159 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_001003891.3(MED15):c.1291C>G (p.Pro431Ala) single nucleotide variant not specified [RCV004645100] Chr22:20582629 [GRCh38]
Chr22:20936916 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_001003891.3(MED15):c.316C>G (p.Pro106Ala) single nucleotide variant not specified [RCV004645101] Chr22:20555013 [GRCh38]
Chr22:20909300 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_001003891.3(MED15):c.1313C>T (p.Pro438Leu) single nucleotide variant not specified [RCV004421807] Chr22:20582651 [GRCh38]
Chr22:20936938 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_001003891.3(MED15):c.2311G>A (p.Ala771Thr) single nucleotide variant not specified [RCV004421812] Chr22:20586648 [GRCh38]
Chr22:20940935 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_001003891.3(MED15):c.357G>A (p.Met119Ile) single nucleotide variant not specified [RCV004421816] Chr22:20555054 [GRCh38]
Chr22:20909341 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_001003891.3(MED15):c.761A>G (p.Gln254Arg) single nucleotide variant not specified [RCV004421817] Chr22:20566537 [GRCh38]
Chr22:20920824 [GRCh37]
Chr22:22q11.21		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:11507
Count of miRNA genes:1198
Interacting mature miRNAs:1527
Transcripts:ENST00000263205, ENST00000292733, ENST00000382974, ENST00000406969, ENST00000414658, ENST00000420849, ENST00000423862, ENST00000424287, ENST00000425759, ENST00000428629, ENST00000432052, ENST00000433831, ENST00000436496, ENST00000438962, ENST00000441501, ENST00000444094, ENST00000445189, ENST00000445987, ENST00000451058, ENST00000457322, ENST00000461076, ENST00000473028, ENST00000473244, ENST00000476187, ENST00000476767, ENST00000477824, ENST00000478831, ENST00000486656, ENST00000487550, ENST00000489651, ENST00000492381, ENST00000493216, ENST00000541476, ENST00000542773
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407103555GWAS752531_Hmathematical ability QTL GWAS752531 (human)2e-08mathematical ability222052916220529163Human
1581529BP71_HBlood pressure QTL 71 (human)20.001Blood pressurepulse pressure221109496637094966Human
407113205GWAS762181_Hmathematical ability QTL GWAS762181 (human)2e-10mathematical ability222052916220529163Human
2289428BW313_HBody weight QTL 313 (human)2.090.0015Body weightBMI221134428437344284Human
407111039GWAS760015_Hmathematical ability QTL GWAS760015 (human)5e-09mathematical ability222052916220529163Human
406964223GWAS613199_Hsevere acute respiratory syndrome, COVID-19 QTL GWAS613199 (human)2e-11severe acute respiratory syndrome, COVID-19222057499920575000Human

Markers in Region
AF021108  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,918,729 - 20,919,085UniSTSGRCh37
Build 362219,248,729 - 19,249,085RGDNCBI36
Celera224,409,654 - 4,410,010RGD
Cytogenetic Map22q11.2UniSTS
HuRef224,186,456 - 4,186,812UniSTS
RH92306  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,877,035 - 20,877,170UniSTSGRCh37
Build 362219,207,035 - 19,207,170RGDNCBI36
Celera224,367,996 - 4,368,131RGD
Cytogenetic Map22q11.2UniSTS
HuRef224,144,800 - 4,144,935UniSTS
GeneMap99-GB4 RH Map2225.66UniSTS
D22S934  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,907,477 - 20,907,615UniSTSGRCh37
Build 362219,237,477 - 19,237,615RGDNCBI36
Celera224,398,402 - 4,398,540RGD
Cytogenetic Map22q11.2UniSTS
HuRef224,175,204 - 4,175,342UniSTS
GDB:305493  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713109,337,950 - 109,338,490UniSTSGRCh37
GRCh3749,784,259 - 9,784,644UniSTSGRCh37
Build 3649,393,357 - 9,393,742RGDNCBI36
Celera1390,182,683 - 90,183,223UniSTS
Celera410,267,118 - 10,267,503RGD
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map13q33.3UniSTS
HuRef1094,689,177 - 94,689,725UniSTS
HuRef49,118,664 - 9,119,049UniSTS
HuRef1389,930,866 - 89,931,406UniSTS
HuRef1841,116,019 - 41,116,347UniSTS
SHGC-171544  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,894,533 - 20,894,835UniSTSGRCh37
Build 362219,224,533 - 19,224,835RGDNCBI36
Celera224,385,485 - 4,385,787RGD
Cytogenetic Map22q11.2UniSTS
HuRef224,162,284 - 4,162,586UniSTS
TNG Radiation Hybrid Map221557.0UniSTS
PCQAP_9742  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372130,895,396 - 130,896,184UniSTSGRCh37
GRCh372220,941,044 - 20,941,913UniSTSGRCh37
Build 362130,611,866 - 130,612,654RGDNCBI36
Celera224,431,973 - 4,432,842RGD
HuRef224,208,757 - 4,209,626UniSTS
HuRef2123,191,321 - 123,192,109UniSTS
D22S663  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,896,814 - 20,897,129UniSTSGRCh37
GRCh371319,721,803 - 19,722,117UniSTSGRCh37
Build 361318,619,803 - 18,620,117RGDNCBI36
Celera13783,739 - 784,053RGD
Celera224,387,765 - 4,388,080UniSTS
Cytogenetic Map22q11.2UniSTS
HuRef13527,643 - 527,957UniSTS
HuRef224,164,567 - 4,164,882UniSTS
Whitehead-RH Map224.5UniSTS
NCBI RH Map2226.6UniSTS
RH104435  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map22q11.2UniSTS
GeneMap99-GB4 RH Map2225.66UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2437 2788 2249 4970 1726 2351 5 623 1951 465 2269 7299 6466 53 3732 1 852 1744 1617 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001003891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001293234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001293235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001293236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001293237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF056191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF328769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK090465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW245653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX478424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB156495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB988805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA182752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF274544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF274593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U80745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000263205   ⟹   ENSP00000263205
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,507,610 - 20,587,619 (+)Ensembl
Ensembl Acc Id: ENST00000292733   ⟹   ENSP00000292733
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,507,602 - 20,587,632 (+)Ensembl
Ensembl Acc Id: ENST00000382974   ⟹   ENSP00000372434
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,507,641 - 20,586,867 (+)Ensembl
Ensembl Acc Id: ENST00000406969   ⟹   ENSP00000384344
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,507,618 - 20,587,617 (+)Ensembl
Ensembl Acc Id: ENST00000414658   ⟹   ENSP00000392738
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,507,582 - 20,564,500 (+)Ensembl
Ensembl Acc Id: ENST00000420849   ⟹   ENSP00000416109
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,551,313 - 20,555,077 (+)Ensembl
Ensembl Acc Id: ENST00000423862   ⟹   ENSP00000408875
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,551,290 - 20,566,536 (+)Ensembl
Ensembl Acc Id: ENST00000424287   ⟹   ENSP00000396461
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,551,241 - 20,564,636 (+)Ensembl
Ensembl Acc Id: ENST00000428629   ⟹   ENSP00000413603
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,551,007 - 20,564,598 (+)Ensembl
Ensembl Acc Id: ENST00000432052   ⟹   ENSP00000408794
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,507,594 - 20,564,606 (+)Ensembl
Ensembl Acc Id: ENST00000433831   ⟹   ENSP00000391108
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,507,585 - 20,587,619 (+)Ensembl
Ensembl Acc Id: ENST00000436496
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,584,946 - 20,585,423 (+)Ensembl
Ensembl Acc Id: ENST00000438962   ⟹   ENSP00000410173
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,508,057 - 20,537,183 (+)Ensembl
Ensembl Acc Id: ENST00000441501   ⟹   ENSP00000413636
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,508,048 - 20,564,509 (+)Ensembl
Ensembl Acc Id: ENST00000444094   ⟹   ENSP00000409578
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,507,541 - 20,564,493 (+)Ensembl
Ensembl Acc Id: ENST00000445189   ⟹   ENSP00000390498
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,523,643 - 20,555,148 (+)Ensembl
Ensembl Acc Id: ENST00000445987   ⟹   ENSP00000407742
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,495,913 - 20,555,135 (+)Ensembl
Ensembl Acc Id: ENST00000451058   ⟹   ENSP00000408742
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,524,275 - 20,555,091 (+)Ensembl
Ensembl Acc Id: ENST00000457322   ⟹   ENSP00000415778
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,550,987 - 20,564,597 (+)Ensembl
Ensembl Acc Id: ENST00000461076
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,583,338 - 20,585,803 (+)Ensembl
Ensembl Acc Id: ENST00000473028
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,524,287 - 20,564,624 (+)Ensembl
Ensembl Acc Id: ENST00000473244
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,581,901 - 20,587,632 (+)Ensembl
Ensembl Acc Id: ENST00000476187
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,582,930 - 20,583,749 (+)Ensembl
Ensembl Acc Id: ENST00000476767
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,553,097 - 20,566,526 (+)Ensembl
Ensembl Acc Id: ENST00000477824
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,507,612 - 20,564,466 (+)Ensembl
Ensembl Acc Id: ENST00000478831
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,566,465 - 20,583,227 (+)Ensembl
Ensembl Acc Id: ENST00000486656
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,507,582 - 20,551,748 (+)Ensembl
Ensembl Acc Id: ENST00000487550
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,551,407 - 20,566,490 (+)Ensembl
Ensembl Acc Id: ENST00000489651
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,573,678 - 20,587,617 (+)Ensembl
Ensembl Acc Id: ENST00000492381
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,554,239 - 20,587,617 (+)Ensembl
Ensembl Acc Id: ENST00000493216
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,582,094 - 20,587,617 (+)Ensembl
RefSeq Acc Id: NM_001003891   ⟹   NP_001003891
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,507,610 - 20,587,619 (+)NCBI
GRCh372220,861,849 - 20,941,919 (+)NCBI
Build 362219,191,886 - 19,271,919 (+)NCBI Archive
HuRef224,129,649 - 4,209,632 (+)ENTREZGENE
CHM1_12220,862,573 - 20,942,640 (+)NCBI
T2T-CHM13v2.02220,916,219 - 20,996,263 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001293234   ⟹   NP_001280163
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,507,610 - 20,587,619 (+)NCBI
CHM1_12220,862,573 - 20,942,640 (+)NCBI
T2T-CHM13v2.02220,916,219 - 20,996,263 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001293235   ⟹   NP_001280164
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,507,610 - 20,587,619 (+)NCBI
CHM1_12220,862,573 - 20,942,640 (+)NCBI
T2T-CHM13v2.02220,916,219 - 20,996,263 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001293236   ⟹   NP_001280165
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,507,610 - 20,587,619 (+)NCBI
CHM1_12220,862,573 - 20,942,640 (+)NCBI
T2T-CHM13v2.02220,916,219 - 20,996,263 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001293237   ⟹   NP_001280166
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,508,047 - 20,587,619 (+)NCBI
CHM1_12220,863,079 - 20,942,640 (+)NCBI
T2T-CHM13v2.02220,916,656 - 20,996,263 (+)NCBI
Sequence:
RefSeq Acc Id: NM_015889   ⟹   NP_056973
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,507,610 - 20,587,619 (+)NCBI
GRCh372220,861,849 - 20,941,919 (+)NCBI
Build 362219,191,886 - 19,271,919 (+)NCBI Archive
HuRef224,129,649 - 4,209,632 (+)ENTREZGENE
CHM1_12220,862,573 - 20,942,640 (+)NCBI
T2T-CHM13v2.02220,916,219 - 20,996,263 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530218   ⟹   XP_011528520
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,507,610 - 20,575,232 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530219   ⟹   XP_011528521
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,507,610 - 20,575,232 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028821   ⟹   XP_016884310
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,507,610 - 20,570,445 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047441395   ⟹   XP_047297351
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,507,610 - 20,587,619 (+)NCBI
RefSeq Acc Id: XM_047441396   ⟹   XP_047297352
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,523,751 - 20,587,619 (+)NCBI
RefSeq Acc Id: XM_047441397   ⟹   XP_047297353
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,551,017 - 20,587,619 (+)NCBI
RefSeq Acc Id: XM_047441398   ⟹   XP_047297354
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,507,610 - 20,587,619 (+)NCBI
RefSeq Acc Id: XM_047441399   ⟹   XP_047297355
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,507,610 - 20,587,619 (+)NCBI
RefSeq Acc Id: XM_047441400   ⟹   XP_047297356
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,551,017 - 20,587,619 (+)NCBI
RefSeq Acc Id: XM_047441401   ⟹   XP_047297357
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,507,610 - 20,587,619 (+)NCBI
RefSeq Acc Id: XM_047441402   ⟹   XP_047297358
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,537,193 - 20,587,619 (+)NCBI
RefSeq Acc Id: XM_047441403   ⟹   XP_047297359
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,571,366 - 20,587,619 (+)NCBI
RefSeq Acc Id: XM_054325677   ⟹   XP_054181652
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02220,916,219 - 20,996,263 (+)NCBI
RefSeq Acc Id: XM_054325678   ⟹   XP_054181653
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02220,932,984 - 20,996,263 (+)NCBI
RefSeq Acc Id: XM_054325679   ⟹   XP_054181654
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02220,958,060 - 20,996,263 (+)NCBI
RefSeq Acc Id: XM_054325680   ⟹   XP_054181655
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02220,916,219 - 20,996,263 (+)NCBI
RefSeq Acc Id: XM_054325681   ⟹   XP_054181656
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02220,916,219 - 20,996,263 (+)NCBI
RefSeq Acc Id: XM_054325682   ⟹   XP_054181657
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02220,958,060 - 20,996,263 (+)NCBI
RefSeq Acc Id: XM_054325683   ⟹   XP_054181658
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02220,916,219 - 20,996,263 (+)NCBI
RefSeq Acc Id: XM_054325684   ⟹   XP_054181659
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02220,945,825 - 20,996,263 (+)NCBI
RefSeq Acc Id: XM_054325685   ⟹   XP_054181660
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02220,916,219 - 20,979,086 (+)NCBI
RefSeq Acc Id: XM_054325686   ⟹   XP_054181661
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02220,916,219 - 20,983,877 (+)NCBI
RefSeq Acc Id: XM_054325687   ⟹   XP_054181662
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02220,916,219 - 20,983,877 (+)NCBI
RefSeq Acc Id: XM_054325688   ⟹   XP_054181663
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02220,980,010 - 20,996,263 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001003891 (Get FASTA)   NCBI Sequence Viewer  
  NP_001280163 (Get FASTA)   NCBI Sequence Viewer  
  NP_001280164 (Get FASTA)   NCBI Sequence Viewer  
  NP_001280165 (Get FASTA)   NCBI Sequence Viewer  
  NP_001280166 (Get FASTA)   NCBI Sequence Viewer  
  NP_056973 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528520 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528521 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884310 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297351 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297352 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297353 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297354 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297355 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297356 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297357 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297358 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297359 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181652 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181653 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181654 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181655 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181656 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181657 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181658 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181659 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181660 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181661 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181662 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181663 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB91443 (Get FASTA)   NCBI Sequence Viewer  
  AAC12944 (Get FASTA)   NCBI Sequence Viewer  
  AAH03078 (Get FASTA)   NCBI Sequence Viewer  
  AAH07529 (Get FASTA)   NCBI Sequence Viewer  
  AAH13985 (Get FASTA)   NCBI Sequence Viewer  
  AAK58423 (Get FASTA)   NCBI Sequence Viewer  
  BAA92228 (Get FASTA)   NCBI Sequence Viewer  
  BAB85034 (Get FASTA)   NCBI Sequence Viewer  
  BAC03446 (Get FASTA)   NCBI Sequence Viewer  
  BAG54024 (Get FASTA)   NCBI Sequence Viewer  
  BAG54113 (Get FASTA)   NCBI Sequence Viewer  
  BAG57747 (Get FASTA)   NCBI Sequence Viewer  
  BAG59755 (Get FASTA)   NCBI Sequence Viewer  
  BAG60130 (Get FASTA)   NCBI Sequence Viewer  
  BAH11863 (Get FASTA)   NCBI Sequence Viewer  
  CAG30423 (Get FASTA)   NCBI Sequence Viewer  
  CAH10580 (Get FASTA)   NCBI Sequence Viewer  
  CAH10623 (Get FASTA)   NCBI Sequence Viewer  
  EAX02948 (Get FASTA)   NCBI Sequence Viewer  
  EAX02949 (Get FASTA)   NCBI Sequence Viewer  
  EAX02950 (Get FASTA)   NCBI Sequence Viewer  
  EAX02951 (Get FASTA)   NCBI Sequence Viewer  
  EAX02952 (Get FASTA)   NCBI Sequence Viewer  
  EAX02953 (Get FASTA)   NCBI Sequence Viewer  
  EAX02954 (Get FASTA)   NCBI Sequence Viewer  
  EAX02955 (Get FASTA)   NCBI Sequence Viewer  
  EAX02956 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000263205
  ENSP00000263205.7
  ENSP00000292733
  ENSP00000292733.7
  ENSP00000372434
  ENSP00000372434.2
  ENSP00000384344
  ENSP00000384344.1
  ENSP00000390498.1
  ENSP00000391108.1
  ENSP00000392738.1
  ENSP00000396461.1
  ENSP00000407742.1
  ENSP00000408742.1
  ENSP00000408794.1
  ENSP00000408875.1
  ENSP00000409578.1
  ENSP00000410173.1
  ENSP00000413603.1
  ENSP00000413636.1
  ENSP00000415778.1
  ENSP00000416109.1
GenBank Protein Q96RN5 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001003891   ⟸   NM_001003891
- Peptide Label: isoform a
- UniProtKB: Q96IH7 (UniProtKB/Swiss-Prot),   Q96CT0 (UniProtKB/Swiss-Prot),   Q8NF16 (UniProtKB/Swiss-Prot),   Q6IC31 (UniProtKB/Swiss-Prot),   O15413 (UniProtKB/Swiss-Prot),   D3DX32 (UniProtKB/Swiss-Prot),   D3DX31 (UniProtKB/Swiss-Prot),   Q9P1T3 (UniProtKB/Swiss-Prot),   Q96RN5 (UniProtKB/Swiss-Prot),   B7Z2H7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_056973   ⟸   NM_015889
- Peptide Label: isoform b
- UniProtKB: B7Z2H7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001280163   ⟸   NM_001293234
- Peptide Label: isoform c
- UniProtKB: B7Z2H7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001280165   ⟸   NM_001293236
- Peptide Label: isoform e
- UniProtKB: B7Z2H7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001280164   ⟸   NM_001293235
- Peptide Label: isoform d
- UniProtKB: G3V1P5 (UniProtKB/TrEMBL),   B7Z2H7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001280166   ⟸   NM_001293237
- Peptide Label: isoform d
- UniProtKB: B7Z2H7 (UniProtKB/TrEMBL),   G3V1P5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011528520   ⟸   XM_011530218
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_011528521   ⟸   XM_011530219
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_016884310   ⟸   XM_017028821
- Peptide Label: isoform X8
- Sequence:
Ensembl Acc Id: ENSP00000408875   ⟸   ENST00000423862
Ensembl Acc Id: ENSP00000396461   ⟸   ENST00000424287
Ensembl Acc Id: ENSP00000410173   ⟸   ENST00000438962
Ensembl Acc Id: ENSP00000292733   ⟸   ENST00000292733
Ensembl Acc Id: ENSP00000408742   ⟸   ENST00000451058
Ensembl Acc Id: ENSP00000392738   ⟸   ENST00000414658
Ensembl Acc Id: ENSP00000413603   ⟸   ENST00000428629
Ensembl Acc Id: ENSP00000413636   ⟸   ENST00000441501
Ensembl Acc Id: ENSP00000415778   ⟸   ENST00000457322
Ensembl Acc Id: ENSP00000409578   ⟸   ENST00000444094
Ensembl Acc Id: ENSP00000407742   ⟸   ENST00000445987
Ensembl Acc Id: ENSP00000390498   ⟸   ENST00000445189
Ensembl Acc Id: ENSP00000384344   ⟸   ENST00000406969
Ensembl Acc Id: ENSP00000408794   ⟸   ENST00000432052
Ensembl Acc Id: ENSP00000391108   ⟸   ENST00000433831
Ensembl Acc Id: ENSP00000263205   ⟸   ENST00000263205
Ensembl Acc Id: ENSP00000416109   ⟸   ENST00000420849
Ensembl Acc Id: ENSP00000372434   ⟸   ENST00000382974
RefSeq Acc Id: XP_047297351   ⟸   XM_047441395
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047297354   ⟸   XM_047441398
- Peptide Label: isoform X3
- UniProtKB: G3V1P5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297357   ⟸   XM_047441401
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047297355   ⟸   XM_047441399
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047297352   ⟸   XM_047441396
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047297358   ⟸   XM_047441402
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047297353   ⟸   XM_047441397
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047297356   ⟸   XM_047441400
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047297359   ⟸   XM_047441403
- Peptide Label: isoform X11
- UniProtKB: B3KWF1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054181652   ⟸   XM_054325677
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054181655   ⟸   XM_054325680
- Peptide Label: isoform X3
- UniProtKB: G3V1P5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054181658   ⟸   XM_054325683
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054181656   ⟸   XM_054325681
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054181662   ⟸   XM_054325687
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054181661   ⟸   XM_054325686
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054181660   ⟸   XM_054325685
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054181653   ⟸   XM_054325678
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054181659   ⟸   XM_054325684
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054181654   ⟸   XM_054325679
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054181657   ⟸   XM_054325682
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054181663   ⟸   XM_054325688
- Peptide Label: isoform X11
- UniProtKB: B3KWF1 (UniProtKB/TrEMBL)
Protein Domains
ARC105/Med15 mediator subunit C-terminal   ARC105/Med15 mediator subunit central   Mediator of RNA polymerase II transcription subunit

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96RN5-F1-model_v2 AlphaFold Q96RN5 1-788 view protein structure

Promoters
RGD ID:6800220
Promoter ID:HG_KWN:41651
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000382974,   NM_001003891,   NM_015889,   OTTHUMT00000320175,   OTTHUMT00000320176,   OTTHUMT00000320228,   OTTHUMT00000320309,   OTTHUMT00000320310,   OTTHUMT00000320311,   OTTHUMT00000320312,   OTTHUMT00000320313,   OTTHUMT00000320318,   UC002ZSN.1,   UC002ZSO.1,   UC002ZSR.1,   UC010GSO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362219,191,676 - 19,192,227 (+)MPROMDB
RGD ID:6800114
Promoter ID:HG_KWN:41652
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000320315,   OTTHUMT00000320316,   OTTHUMT00000320317
Position:
Human AssemblyChrPosition (strand)Source
Build 362219,207,251 - 19,207,751 (+)MPROMDB
RGD ID:6800120
Promoter ID:HG_KWN:41654
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000320375
Position:
Human AssemblyChrPosition (strand)Source
Build 362219,221,001 - 19,221,501 (+)MPROMDB
RGD ID:6800117
Promoter ID:HG_KWN:41655
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   Lymphoblastoid
Transcripts:OTTHUMT00000320319,   OTTHUMT00000320341,   OTTHUMT00000320342,   OTTHUMT00000320372,   OTTHUMT00000320373,   OTTHUMT00000320374
Position:
Human AssemblyChrPosition (strand)Source
Build 362219,234,876 - 19,235,677 (+)MPROMDB
RGD ID:6800121
Promoter ID:HG_KWN:41656
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000320376
Position:
Human AssemblyChrPosition (strand)Source
Build 362219,236,596 - 19,237,096 (+)MPROMDB
RGD ID:6800124
Promoter ID:HG_KWN:41657
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   K562
Transcripts:UC002ZSS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362219,238,286 - 19,238,786 (+)MPROMDB
RGD ID:6800119
Promoter ID:HG_KWN:41658
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_2Hour,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000320377
Position:
Human AssemblyChrPosition (strand)Source
Build 362219,250,729 - 19,251,229 (+)MPROMDB
RGD ID:6800125
Promoter ID:HG_KWN:41659
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:UC002ZST.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362219,258,396 - 19,259,247 (+)MPROMDB
RGD ID:6800123
Promoter ID:HG_KWN:41660
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000320378,   OTTHUMT00000320379,   OTTHUMT00000322218,   OTTHUMT00000322219
Position:
Human AssemblyChrPosition (strand)Source
Build 362219,265,396 - 19,266,397 (+)MPROMDB
RGD ID:6800118
Promoter ID:HG_KWN:41661
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000320380
Position:
Human AssemblyChrPosition (strand)Source
Build 362219,268,346 - 19,269,197 (+)MPROMDB
RGD ID:13603286
Promoter ID:EPDNEW_H27827
Type:initiation region
Name:MED15_1
Description:mediator complex subunit 15
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,507,616 - 20,507,676EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14248 AgrOrtholog
COSMIC MED15 COSMIC
Ensembl Genes ENSG00000099917 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000263205 ENTREZGENE
  ENST00000263205.11 UniProtKB/Swiss-Prot
  ENST00000292733 ENTREZGENE
  ENST00000292733.11 UniProtKB/Swiss-Prot
  ENST00000382974 ENTREZGENE
  ENST00000382974.6 UniProtKB/Swiss-Prot
  ENST00000406969 ENTREZGENE
  ENST00000406969.5 UniProtKB/TrEMBL
  ENST00000414658.5 UniProtKB/TrEMBL
  ENST00000420849.5 UniProtKB/TrEMBL
  ENST00000423862.5 UniProtKB/TrEMBL
  ENST00000424287.5 UniProtKB/TrEMBL
  ENST00000428629.5 UniProtKB/TrEMBL
  ENST00000432052.5 UniProtKB/TrEMBL
  ENST00000433831.5 UniProtKB/TrEMBL
  ENST00000438962.1 UniProtKB/TrEMBL
  ENST00000441501.5 UniProtKB/TrEMBL
  ENST00000444094.5 UniProtKB/TrEMBL
  ENST00000445189.5 UniProtKB/TrEMBL
  ENST00000445987.5 UniProtKB/TrEMBL
  ENST00000451058.5 UniProtKB/TrEMBL
  ENST00000457322.5 UniProtKB/TrEMBL
Gene3D-CATH 1.10.246.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000099917 GTEx
HGNC ID HGNC:14248 ENTREZGENE
Human Proteome Map MED15 Human Proteome Map
InterPro KIX_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Med15 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Med15_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Med15_central UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51586 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 51586 ENTREZGENE
OMIM 607372 OMIM
PANTHER MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION SUBUNIT 15 UniProtKB/Swiss-Prot
  MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION SUBUNIT 15 UniProtKB/Swiss-Prot
  MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION SUBUNIT 15 UniProtKB/TrEMBL
  MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION SUBUNIT 15 UniProtKB/TrEMBL
  PROTEIN GVQW1-RELATED UniProtKB/TrEMBL
Pfam Med15 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Med15_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Med15_M UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33088 PharmGKB
PRINTS PRICHEXTENSN UniProtKB/TrEMBL
UniProt B3KWF1 ENTREZGENE, UniProtKB/TrEMBL
  B4DGD6_HUMAN UniProtKB/TrEMBL
  B4DN68_HUMAN UniProtKB/TrEMBL
  B7Z2H7 ENTREZGENE, UniProtKB/TrEMBL
  C9J1I1_HUMAN UniProtKB/TrEMBL
  C9JCQ3_HUMAN UniProtKB/TrEMBL
  C9JEM1_HUMAN UniProtKB/TrEMBL
  C9JGN2_HUMAN UniProtKB/TrEMBL
  C9JJ12_HUMAN UniProtKB/TrEMBL
  C9JLN7_HUMAN UniProtKB/TrEMBL
  C9JM58_HUMAN UniProtKB/TrEMBL
  C9JWK5_HUMAN UniProtKB/TrEMBL
  C9JZV5_HUMAN UniProtKB/TrEMBL
  D3DX31 ENTREZGENE
  D3DX32 ENTREZGENE
  F2Z2B7_HUMAN UniProtKB/TrEMBL
  F8WCS1_HUMAN UniProtKB/TrEMBL
  F8WDM6_HUMAN UniProtKB/TrEMBL
  F8WEJ4_HUMAN UniProtKB/TrEMBL
  G3V1P5 ENTREZGENE, UniProtKB/TrEMBL
  H7C308_HUMAN UniProtKB/TrEMBL
  MED15_HUMAN UniProtKB/Swiss-Prot
  O15413 ENTREZGENE
  Q6IC31 ENTREZGENE
  Q6PKB8_HUMAN UniProtKB/TrEMBL
  Q8NF16 ENTREZGENE
  Q96CT0 ENTREZGENE
  Q96IH7 ENTREZGENE
  Q96RN5 ENTREZGENE
  Q9P1T3 ENTREZGENE
UniProt Secondary D3DX31 UniProtKB/Swiss-Prot
  D3DX32 UniProtKB/Swiss-Prot
  O15413 UniProtKB/Swiss-Prot
  Q6IC31 UniProtKB/Swiss-Prot
  Q8NF16 UniProtKB/Swiss-Prot
  Q96CT0 UniProtKB/Swiss-Prot
  Q96IH7 UniProtKB/Swiss-Prot
  Q9P1T3 UniProtKB/Swiss-Prot