P2RX6 (purinergic receptor P2X 6) - Rat Genome Database

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Gene: P2RX6 (purinergic receptor P2X 6) Homo sapiens
Analyze
Symbol: P2RX6
Name: purinergic receptor P2X 6
RGD ID: 736820
HGNC Page HGNC:8538
Description: Predicted to enable extracellularly ATP-gated monoatomic cation channel activity. Predicted to be involved in calcium ion transmembrane transport. Located in cell junction and cytoplasm. Part of receptor complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ATP receptor; MGC129625; P2RXL1; P2X purinoceptor 6; P2X6; P2XM; purinergic receptor P2X, ligand gated ion channel, 6; purinergic receptor P2X, ligand-gated ion channel, 6; purinergic receptor p2x-like 1; purinergic receptor P2X-like 1, orphan receptor; purinoceptor P2X6; purinoreceptor P2X6; skeletal muscle-expressed P2X
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: P2RX6P  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382221,009,799 - 21,028,008 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2221,009,808 - 21,028,013 (+)EnsemblGRCh38hg38GRCh38
GRCh372221,369,454 - 21,382,297 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362219,699,464 - 19,712,302 (+)NCBINCBI36Build 36hg18NCBI36
Build 342219,694,002 - 19,707,673NCBI
Celera224,860,745 - 4,873,604 (+)NCBICelera
Cytogenetic Map22q11.21NCBI
HuRef224,637,727 - 4,650,586 (+)NCBIHuRef
CHM1_12221,369,657 - 21,382,503 (+)NCBICHM1_1
T2T-CHM13v2.02221,423,939 - 21,436,767 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
Intellectual disability  (IAGP)
Megacolon  (IAGP)
Schizophrenia  (IAGP)
Seizure  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8670303   PMID:9242461   PMID:10591208   PMID:11171941   PMID:12088286   PMID:12112843   PMID:12477932   PMID:15313628   PMID:15461802   PMID:15489334   PMID:15657042   PMID:16344560  
PMID:17895406   PMID:17975119   PMID:18852390   PMID:19023099   PMID:19240061   PMID:21832049   PMID:21873635   PMID:22378790   PMID:25017104   PMID:26186194   PMID:28514442   PMID:33226137  
PMID:33961781   PMID:35944360  


Genomics

Comparative Map Data
P2RX6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382221,009,799 - 21,028,008 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2221,009,808 - 21,028,013 (+)EnsemblGRCh38hg38GRCh38
GRCh372221,369,454 - 21,382,297 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362219,699,464 - 19,712,302 (+)NCBINCBI36Build 36hg18NCBI36
Build 342219,694,002 - 19,707,673NCBI
Celera224,860,745 - 4,873,604 (+)NCBICelera
Cytogenetic Map22q11.21NCBI
HuRef224,637,727 - 4,650,586 (+)NCBIHuRef
CHM1_12221,369,657 - 21,382,503 (+)NCBICHM1_1
T2T-CHM13v2.02221,423,939 - 21,436,767 (+)NCBIT2T-CHM13v2.0
P2rx6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391617,379,749 - 17,389,879 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1617,379,749 - 17,395,664 (+)EnsemblGRCm39 Ensembl
GRCm381617,561,867 - 17,572,015 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1617,561,885 - 17,577,800 (+)EnsemblGRCm38mm10GRCm38
MGSCv371617,561,978 - 17,572,105 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361617,475,563 - 17,484,828 (+)NCBIMGSCv36mm8
Celera1618,135,205 - 18,145,330 (+)NCBICelera
Cytogenetic Map16A3NCBI
cM Map1610.88NCBI
P2rx6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81196,944,167 - 96,956,424 (-)NCBIGRCr8
mRatBN7.21183,439,922 - 83,450,449 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1183,439,924 - 83,450,481 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1192,167,552 - 92,177,610 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01184,828,716 - 84,838,772 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01183,882,324 - 83,892,380 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01187,434,929 - 87,445,221 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1187,435,185 - 87,445,219 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01190,485,985 - 90,496,515 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41185,431,257 - 85,441,293 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11185,471,855 - 85,481,771 (-)NCBI
Celera1182,208,493 - 82,218,517 (-)NCBICelera
Cytogenetic Map11q23NCBI
P2rx6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544219,264,790 - 19,271,537 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544219,263,544 - 19,272,231 (-)NCBIChiLan1.0ChiLan1.0
P2RX6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22330,721,153 - 30,735,310 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12233,270,081 - 33,284,233 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0223,239,019 - 3,251,966 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12219,728,644 - 19,741,078 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2219,728,644 - 19,741,078 (+)Ensemblpanpan1.1panPan2
P2RX6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12630,456,231 - 30,467,674 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2630,457,014 - 30,466,152 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2630,417,349 - 30,428,575 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02631,867,789 - 31,879,013 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2631,869,314 - 31,879,069 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12629,913,614 - 29,924,837 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02629,537,801 - 29,549,022 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02630,626,779 - 30,638,005 (-)NCBIUU_Cfam_GSD_1.0
P2rx6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118140,186,450 - 140,193,553 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366192,560,759 - 2,566,355 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366192,560,685 - 2,567,612 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
P2RX6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1450,622,938 - 50,633,535 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11450,595,876 - 50,633,536 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21454,043,227 - 54,082,269 (+)NCBISscrofa10.2Sscrofa10.2susScr3
P2RX6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1194,958,713 - 4,969,443 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl194,958,671 - 4,969,724 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660852,001,874 - 2,015,701 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
P2rx6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624945648,499 - 656,075 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624945646,361 - 687,901 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in P2RX6
22 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
Single allele deletion Epilepsy [RCV001293366] Chr22:18889490..21463730 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18915347-21463730)x1 copy number loss VATER association [RCV000520380] Chr22:18915347..21463730 [GRCh37]
Chr22:22q11.21
likely 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 22q11.21-11.22(chr22:20671366-22046408)x3 copy number gain See cases [RCV000050932] Chr22:20671366..22046408 [GRCh38]
Chr22:21025654..22400806 [GRCh37]
Chr22:19355654..20730806 [NCBI36]
Chr22:22q11.21-11.22
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(chr22:18339130-21151269)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(chr22:20726972-21151128)x3 copy number gain See cases [RCV000051094] Chr22:20726972..21151128 [GRCh38]
Chr22:21081260..21505417 [GRCh37]
Chr22:19411260..19835417 [NCBI36]
Chr22:22q11.21
pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:20726972-21151128)x1 copy number loss See cases [RCV000051096] Chr22:20726972..21151128 [GRCh38]
Chr22:21081260..21505417 [GRCh37]
Chr22:19411260..19835417 [NCBI36]
Chr22:22q11.21
pathogenic|uncertain significance|conflicting data from submitters
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(chr22:18339130-21207225)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(chr22:20604697-21025669)x3 copy number gain See cases [RCV000051960] Chr22:20604697..21025669 [GRCh38]
Chr22:20958984..21379958 [GRCh37]
Chr22:19288984..19709958 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:20668552-22358488)x3 copy number gain See cases [RCV000051961] Chr22:20668552..22358488 [GRCh38]
Chr22:21022840..22712836 [GRCh37]
Chr22:19352840..21042836 [NCBI36]
Chr22:22q11.21-11.22
pathogenic
GRCh38/hg38 22q11.21(chr22:20690750-21101267)x3 copy number gain See cases [RCV000051962] Chr22:20690750..21101267 [GRCh38]
Chr22:21045038..21455556 [GRCh37]
Chr22:19375038..19785556 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:20726972-21207225)x3 copy number gain See cases [RCV000051963] Chr22:20726972..21207225 [GRCh38]
Chr22:21081260..21561514 [GRCh37]
Chr22:19411260..19891514 [NCBI36]
Chr22:22q11.21
pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:20732418-21091671)x3 copy number gain See cases [RCV000051964] Chr22:20732418..21091671 [GRCh38]
Chr22:21086706..21445960 [GRCh37]
Chr22:19416706..19775960 [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(chr22:20711594-21101267)x1 copy number loss See cases [RCV000053058] Chr22:20711594..21101267 [GRCh38]
Chr22:21065882..21455556 [GRCh37]
Chr22:19395882..19785556 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:20726772-23135971)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053061]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053061]|See cases [RCV000053061] Chr22:20726772..23135971 [GRCh38]
Chr22:21081060..23478158 [GRCh37]
Chr22:19411060..21808158 [NCBI36]
Chr22:22q11.21-11.23
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(chr22:18339130-21101267)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
GRCh37/hg19 22q11.21(chr22:18886915-21811991)x1 copy number loss See cases [RCV000663399] Chr22:18886915..21811991 [GRCh37]
Chr22:22q11.21
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
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
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(chr22:20726972-21086166)x3 copy number gain See cases [RCV000134521] Chr22:20726972..21086166 [GRCh38]
Chr22:21081260..21440455 [GRCh37]
Chr22:19411260..19770455 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:20711594-21583391)x1 copy number loss See cases [RCV000134522] Chr22:20711594..21583391 [GRCh38]
Chr22:21065882..21937680 [GRCh37]
Chr22:19395882..20267680 [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 22q11.21-11.22(chr22:20671366-22088366)x3 copy number gain See cases [RCV000134888] Chr22:20671366..22088366 [GRCh38]
Chr22:21025654..22442778 [GRCh37]
Chr22:19355654..20772778 [NCBI36]
Chr22:22q11.21-11.22
uncertain significance
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(chr22:20671366-21151128)x4 copy number gain See cases [RCV000135614] Chr22:20671366..21151128 [GRCh38]
Chr22:21025654..21505417 [GRCh37]
Chr22:19355654..19835417 [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(chr22:20400117-21086226)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 22q11.21-11.23(chr22:20726972-24197852)x1 copy number loss See cases [RCV000136889] Chr22:20726972..24197852 [GRCh38]
Chr22:21081260..24593820 [GRCh37]
Chr22:19411260..22923820 [NCBI36]
Chr22:22q11.21-11.23
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 22q11.21-12.3(chr22:20907226-37187347)x3 copy number gain See cases [RCV000137926] Chr22:20907226..37187347 [GRCh38]
Chr22:21261514..37583387 [GRCh37]
Chr22:19591514..35913333 [NCBI36]
Chr22:22q11.21-12.3
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(chr22:20812202-21053392)x3 copy number gain See cases [RCV000138791] Chr22:20812202..21053392 [GRCh38]
Chr22:21166490..21407681 [GRCh37]
Chr22:19496490..19737681 [NCBI36]
Chr22:22q11.21
uncertain significance
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(chr22:20711594-21151128)x3 copy number gain See cases [RCV000139254] Chr22:20711594..21151128 [GRCh38]
Chr22:21065882..21505417 [GRCh37]
Chr22:19395882..19835417 [NCBI36]
Chr22:22q11.21
uncertain significance
GRCh38/hg38 22q11.21(chr22:20711594-21151128)x1 copy number loss See cases [RCV000139255] Chr22:20711594..21151128 [GRCh38]
Chr22:21065882..21505417 [GRCh37]
Chr22:19395882..19835417 [NCBI36]
Chr22:22q11.21
uncertain significance
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(chr22:20540868-21020223)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(chr22:18339130-21450597)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(chr22:18339130-21207225)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(chr22:20726972-21207225)x3 copy number gain See cases [RCV000148048] Chr22:20726972..21207225 [GRCh38]
Chr22:21081260..21561514 [GRCh37]
Chr22:19411260..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:20705381-21111370)x1 copy number loss See cases [RCV000143539] Chr22:20705381..21111370 [GRCh38]
Chr22:21059669..21465659 [GRCh37]
Chr22:19389669..19795659 [NCBI36]
Chr22:22q11.21
uncertain significance
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(chr22:18339130-21151128)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(chr22:20726972-21151128)x3 copy number gain See cases [RCV000148207] Chr22:20726972..21151128 [GRCh38]
Chr22:21081260..21505417 [GRCh37]
Chr22:19411260..19835417 [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(chr22:20726972-21151128)x1 copy number loss See cases [RCV000148144] Chr22:20726972..21151128 [GRCh38]
Chr22:21081260..21505417 [GRCh37]
Chr22:19411260..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
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
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(chr22:18900442-21440514)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(chr22:20958986-21440514)x3 copy number gain See cases [RCV000239800] Chr22:20958986..21440514 [GRCh37]
Chr22:22q11.21
uncertain significance
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 22q11.21-12.1(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 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.21(chr22:21056165-21440514)x3 copy number gain See cases [RCV000240021] Chr22:21056165..21440514 [GRCh37]
Chr22:22q11.21
uncertain significance
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(chr22:21074920-21440514)x1 copy number loss See cases [RCV000240353] Chr22:21074920..21440514 [GRCh37]
Chr22:22q11.21
likely pathogenic
GRCh37/hg19 22q11.21(chr22:19023801-21440514)x1 copy number loss See cases [RCV000240303] Chr22:19023801..21440514 [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 22q11.2 deletion syndrome [RCV003221321] Chr22:18274663..21110254 [GRCh38]
Chr22:22q11.21
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(chr22:21065882-21440455)x3 copy number gain See cases [RCV000449379] Chr22:21065882..21440455 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:21044196-21440455)x4 copy number gain See cases [RCV000449176] Chr22:21044196..21440455 [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(chr22:21368160-21377192)x3 copy number gain See cases [RCV000449222] Chr22:21368160..21377192 [GRCh37]
Chr22:22q11.21
benign
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(chr22:21059669-21461606)x1 copy number loss See cases [RCV000446362] Chr22:21059669..21461606 [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(chr22:18644790-21800471)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 22q11.21-11.22(chr22:21029655-22481498)x1 copy number loss See cases [RCV000446664] Chr22:21029655..22481498 [GRCh37]
Chr22:22q11.21-11.22
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 22q11.21-11.22(chr22:21025654-22336268)x3 copy number gain See cases [RCV000445877] Chr22:21025654..22336268 [GRCh37]
Chr22:22q11.21-11.22
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(chr22:21060189-21465659)x3 copy number gain See cases [RCV000447895] Chr22:21060189..21465659 [GRCh37]
Chr22:22q11.21
uncertain significance
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 22q11.21-11.22(chr22:21029655-22481498)x1 copy number loss See cases [RCV000511898] Chr22:21029655..22481498 [GRCh37]
Chr22:22q11.21-11.22
uncertain significance
GRCh37/hg19 22q11.21(chr22:21059669-21465662)x1 copy number loss See cases [RCV000511667] Chr22:21059669..21465662 [GRCh37]
Chr22:22q11.21
uncertain significance
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
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(chr22:21081260-21431174) copy number gain Abnormality of the eye [RCV000626529] Chr22:21081260..21431174 [GRCh37]
Chr22:22q11.21
uncertain significance
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(chr22:18916842-21804716)x1 copy number loss See cases [RCV000512402] Chr22:18916842..21804716 [GRCh37]
Chr22:22q11.21
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 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.21(chr22:20733495-21463730)x1 copy number loss See cases [RCV000663402] Chr22:20733495..21463730 [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(chr22:18916827-21465659)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(chr22:18916842-21798907)x1 copy number loss not provided [RCV000684514] Chr22:18916842..21798907 [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(chr22:18644790-21915509)x1 copy number loss not provided [RCV000684519] Chr22:18644790..21915509 [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(chr22:18626108-21800797)x1 copy number loss not provided [RCV000684517] Chr22:18626108..21800797 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:21075675-21465662)x1 copy number loss not provided [RCV000684473] Chr22:21075675..21465662 [GRCh37]
Chr22:22q11.21
pathogenic|likely pathogenic
GRCh37/hg19 22q11.21(chr22:21049799-21465662)x1 copy number loss not provided [RCV000684476] Chr22:21049799..21465662 [GRCh37]
Chr22:22q11.21
pathogenic|likely 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
NC_000022.11:g.(?_18159879)_(21362822_?)del deletion Schizophrenia [RCV000754240] Chr22:18159879..21362822 [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
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(chr22:20733495-21463730)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(chr22:21061667-21465050)x1 copy number loss not provided [RCV000741773] Chr22:21061667..21465050 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:21062168-21463730)x1 copy number loss not provided [RCV000741774] Chr22:21062168..21463730 [GRCh37]
Chr22:22q11.21
likely benign
GRCh37/hg19 22q11.21(chr22:21091815-21462353)x3 copy number gain not provided [RCV000741775] Chr22:21091815..21462353 [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(chr22:18648855-21461017)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(chr22:18912231-21465672)x1 copy number loss Velocardiofacial syndrome [RCV000788056] Chr22:18912231..21465672 [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
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(chr22:21062566-21463730)x1 copy number loss See cases [RCV000790588] Chr22:21062566..21463730 [GRCh37]
Chr22:22q11.21
likely 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(chr22:18923898-21431174) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767630] Chr22:18923898..21431174 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21029655-22481498)x1 copy number loss not provided [RCV001007171] Chr22:21029655..22481498 [GRCh37]
Chr22:22q11.21-11.22
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(chr22:18900755-21800277) copy number loss DiGeorge syndrome [RCV000767747] Chr22:18900755..21800277 [GRCh37]
Chr22:22q11.21
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(chr22:18901004-21408430) copy number loss DiGeorge syndrome [RCV000767594] Chr22:18901004..21408430 [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(chr22:18609712-21408430) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767590] Chr22:18609712..21408430 [GRCh37]
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
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(chr22:20716876-21800471)x1 copy number loss 22q11.2 central deletion syndrome [RCV000788067] Chr22:20716876..21800471 [GRCh37]
Chr22:22q11.21
likely pathogenic
GRCh37/hg19 22q11.21(chr22:20921342-21459713)x1 copy number loss 22q11.2 central deletion syndrome [RCV000788068] Chr22:20921342..21459713 [GRCh37]
Chr22:22q11.21
likely pathogenic
GRCh37/hg19 22q11.21(chr22:21059669-21800471)x1 copy number loss 22q11.2 central deletion syndrome [RCV000788069] Chr22:21059669..21800471 [GRCh37]
Chr22:22q11.21
likely 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(chr22:18650803-21460220) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767593] Chr22:18650803..21460220 [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(chr22:18650745-21460220) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767592] Chr22:18650745..21460220 [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(chr22:18912514-21922035) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767627] Chr22:18912514..21922035 [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(chr22:21033397-21465659)x3 copy number gain not provided [RCV000848285] Chr22:21033397..21465659 [GRCh37]
Chr22:22q11.21
uncertain significance
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(chr22:20717654-21465662)x3 copy number gain not provided [RCV000848729] Chr22:20717654..21465662 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:21058887-21465659)x3 copy number gain not provided [RCV000849879] Chr22:21058887..21465659 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:21033586-21800471)x1 copy number loss 22q11.2 central deletion syndrome [RCV000788065] Chr22:21033586..21800471 [GRCh37]
Chr22:22q11.21
likely pathogenic
GRCh37/hg19 22q11.21(chr22:20992308-21464764)x3 copy number gain 22q11.2 central duplication syndrome [RCV000788070] Chr22:20992308..21464764 [GRCh37]
Chr22:22q11.21
uncertain significance
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(chr22:20729388-21465662)x1 copy number loss not provided [RCV000849720] Chr22:20729388..21465662 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:21033397-21465662)x3 copy number gain not provided [RCV001007172] Chr22:21033397..21465662 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:20732808-21465659)x3 copy number gain not provided [RCV000846336] Chr22:20732808..21465659 [GRCh37]
Chr22:22q11.21
uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787412] Chr22:18890264..21540347 [GRCh37]
Chr22:22q11.21
pathogenic
Single allele duplication Neurodevelopmental disorder [RCV000787416] Chr22:18890264..21464056 [GRCh37]
Chr22:22q11.21
likely 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(chr22:18889490-21917190)x1 copy number loss See cases [RCV000790601] Chr22:18889490..21917190 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:21069073-21463730)x1 copy number loss See cases [RCV001194549] Chr22:21069073..21463730 [GRCh37]
Chr22:22q11.21
likely pathogenic
GRCh37/hg19 22q11.21(chr22:20716876-21465659)x1 copy number loss not provided [RCV000847762] Chr22:20716876..21465659 [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(chr22:20728956-21465662)x3 copy number gain not provided [RCV000845862] Chr22:20728956..21465662 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:18893888-21481925)x1 copy number loss not provided [RCV003312569] Chr22:18893888..21481925 [GRCh37]
Chr22:22q11.21
pathogenic
NC_000022.11:g.18948676_21110520dup duplication Chromosome 22q11.2 microduplication syndrome [RCV003313910] Chr22:18948676..21110520 [GRCh38]
Chr22:22q11.21
pathogenic
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
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(chr22:18916843-21804563)x3 copy number gain not provided [RCV002472525] Chr22:18916843..21804563 [GRCh37]
Chr22:22q11.21
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 22q11.21-11.22(chr22:21029656-22485776)x3 copy number gain not provided [RCV002473924] Chr22:21029656..22485776 [GRCh37]
Chr22:22q11.21-11.22
pathogenic
GRCh37/hg19 22q11.21(chr22:21188487-21804597)x1 copy number loss not provided [RCV002473928] Chr22:21188487..21804597 [GRCh37]
Chr22:22q11.21
likely 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 22q11.21(chr22:18841374-21465101)x3 copy number gain not provided [RCV001537919] Chr22:18841374..21465101 [GRCh37]
Chr22:22q11.21
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 22q11.21-11.23(chr22:20732808-25193541)x3 copy number gain not provided [RCV001007169] Chr22:20732808..25193541 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.21(chr22:21062168-21463730)x1 copy number loss See cases [RCV001194551] Chr22:21062168..21463730 [GRCh37]
Chr22:22q11.21
likely 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 22q11.1-11.22(chr22:16888899-22290476)x3 copy number gain not provided [RCV001007162] Chr22:16888899..22290476 [GRCh37]
Chr22:22q11.1-11.22
pathogenic
Single allele deletion DiGeorge syndrome [RCV001003853] Chr22:18475385..23764120 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.21(chr22:18886915-21463730)x1 copy number loss See cases [RCV001194516] Chr22:18886915..21463730 [GRCh37]
Chr22:22q11.21
pathogenic
NC_000022.10:g.(?_21067569)_(21414817_?)del deletion not provided [RCV001031466] Chr22:21067569..21414817 [GRCh37]
Chr22:22q11.21
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(chr22:21081284-21457610)x1 copy number loss See cases [RCV001263046] Chr22:21081284..21457610 [GRCh37]
Chr22:22q11.21
likely pathogenic
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(chr22:20818353-21465659)x3 copy number gain not provided [RCV001259983] Chr22:20818353..21465659 [GRCh37]
Chr22:22q11.21
uncertain significance
Single allele duplication Chromosome 22q11.2 microduplication syndrome [RCV003232578] Chr22:18985739..21081116 [GRCh38]
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(chr22:18894835-21464119) copy number gain Global developmental delay [RCV001291954] Chr22:18894835..21464119 [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(chr22:18909044-21464119) copy number gain Cryptorchidism [RCV001291958] Chr22:18909044..21464119 [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(chr22:20754407-21457610)x1 copy number loss See cases [RCV001263048] Chr22:20754407..21457610 [GRCh37]
Chr22:22q11.21
likely 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 22q11.21-11.22(chr22:19035089-22672555)x3 copy number gain not provided [RCV001259984] Chr22:19035089..22672555 [GRCh37]
Chr22:22q11.21-11.22
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 22q11.21(chr22:18886915-21461017)x3 copy number gain Epilepsy [RCV001293650] Chr22:18886915..21461017 [GRCh37]
Chr22:22q11.21
pathogenic
Single allele deletion DiGeorge syndrome [RCV001391675] Chr22:18893882..21563420 [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(chr22:21075575-21454721) copy number loss Hydronephrosis [RCV001291976] Chr22:21075575..21454721 [GRCh37]
Chr22:22q11.21
likely pathogenic
Single allele deletion DiGeorge syndrome [RCV001391672] Chr22:18893882..21571027 [GRCh37]
Chr22:22q11.21
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(chr22:20730996-21465342)x1 copy number loss not provided [RCV001537923] Chr22:20730996..21465342 [GRCh37]
Chr22:22q11.21
pathogenic
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
Single allele deletion Velocardiofacial syndrome [RCV002247726] Chr22:18948677..21110520 [GRCh38]
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 22q11.21(chr22:18873001-21469900) copy number gain Cerebral palsy [RCV001796564] Chr22:18873001..21469900 [GRCh37]
Chr22:22q11.21
pathogenic
NM_005446.5(P2RX6):c.1198G>T (p.Ala400Ser) single nucleotide variant not specified [RCV004264605] Chr22:21026489 [GRCh38]
Chr22:21380778 [GRCh37]
Chr22:22q11.21
uncertain significance
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
NC_000022.10:g.18861209_21630630del deletion Megacolon [RCV001290034] Chr22:18861209..21630630 [GRCh37]
Chr22:22q11.21
likely 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(chr22:18916827-21804886) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV002280737] Chr22:18916827..21804886 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:21059669-21804716)x1 copy number loss not provided [RCV001827632] Chr22:21059669..21804716 [GRCh37]
Chr22:22q11.21
likely pathogenic
Single allele deletion Chromosome 22q11.2 deletion syndrome, distal [RCV003232577] Chr22:18985739..21081116 [GRCh38]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:21059670-21465659)x3 copy number gain not provided [RCV001834182] Chr22:21059670..21465659 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:21033398-21465659)x3 copy number gain not provided [RCV001827815] Chr22:21033398..21465659 [GRCh37]
Chr22:22q11.21
uncertain significance
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(chr22:18645353-21800797) copy number loss DiGeorge syndrome [RCV002280727] Chr22:18645353..21800797 [GRCh37]
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
NC_000022.11:g.18948676_21110520del deletion Velocardiofacial syndrome [RCV003318485] Chr22:18948676..21110520 [GRCh38]
Chr22:22q11.21
pathogenic
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(chr22:18893888-21414817)x3 copy number gain not provided [RCV002293073] Chr22:18893888..21414817 [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 22q11.1-11.21(chr22:16888899-21915509) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV002280738] Chr22:16888899..21915509 [GRCh37]
Chr22:22q11.1-11.21
pathogenic
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(chr22:18893888-21414817)x1 copy number loss not provided [RCV002276112] Chr22:18893888..21414817 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:21322233-22065138)x1 copy number loss not provided [RCV002276113] Chr22:21322233..22065138 [GRCh37]
Chr22:22q11.21
uncertain significance
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(chr22:18718623-21563155)x1 copy number loss Syndromic anorectal malformation [RCV002286609] Chr22:18718623..21563155 [GRCh37]
Chr22:22q11.21
likely 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(chr22:20725308-21465659)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(chr22:20732808-21465659)x1 copy number loss See cases [RCV002287641] Chr22:20732808..21465659 [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(chr22:18644790-21800471) copy number loss DiGeorge syndrome [RCV002280730] Chr22:18644790..21800471 [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
Single allele duplication not provided [RCV002266809] Chr22:20697728..21129998 [GRCh38]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:18644790-21798907) copy number loss DiGeorge syndrome [RCV002280728] Chr22:18644790..21798907 [GRCh37]
Chr22:22q11.21
pathogenic
NM_005446.5(P2RX6):c.233A>G (p.Lys78Arg) single nucleotide variant not specified [RCV004297538] Chr22:21016010 [GRCh38]
Chr22:21370299 [GRCh37]
Chr22:22q11.21
uncertain significance
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(chr22:18648867-21465659)x1 copy number loss not provided [RCV002472511] Chr22:18648867..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:21092648-21465662)x1 copy number loss not provided [RCV002472590] Chr22:21092648..21465662 [GRCh37]
Chr22:22q11.21
likely 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(chr22:20728957-21800797)x1 copy number loss not provided [RCV002472554] Chr22:20728957..21800797 [GRCh37]
Chr22:22q11.21
likely pathogenic
GRCh37/hg19 22q11.21(chr22:21062134-21465662)x3 copy number gain not provided [RCV002474713] Chr22:21062134..21465662 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:21049800-21465662)x1 copy number loss not provided [RCV002474517] Chr22:21049800..21465662 [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
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(chr22:18916828-21800797)x1 copy number loss not provided [RCV002473925] Chr22:18916828..21800797 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916843-21915509)x1 copy number loss not provided [RCV002473950] Chr22:18916843..21915509 [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(chr22:20725309-21804563)x1 copy number loss not provided [RCV002472527] Chr22:20725309..21804563 [GRCh37]
Chr22:22q11.21
likely pathogenic
GRCh37/hg19 22q11.21(chr22:18916843-21800471)x1 copy number loss not provided [RCV002472532] Chr22:18916843..21800471 [GRCh37]
Chr22:22q11.21
pathogenic
NM_005446.5(P2RX6):c.250G>A (p.Val84Ile) single nucleotide variant not specified [RCV004207226] Chr22:21016027 [GRCh38]
Chr22:21370316 [GRCh37]
Chr22:22q11.21
uncertain significance
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(chr22:18893888-21570386)x1 copy number loss not provided [RCV002512211] Chr22:18893888..21570386 [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_005446.5(P2RX6):c.779T>C (p.Leu260Pro) single nucleotide variant not specified [RCV004159741] Chr22:21023415 [GRCh38]
Chr22:21377704 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_005446.5(P2RX6):c.1193G>A (p.Arg398Gln) single nucleotide variant not specified [RCV004198320] Chr22:21026484 [GRCh38]
Chr22:21380773 [GRCh37]
Chr22:22q11.21
likely benign
NM_005446.5(P2RX6):c.1030G>A (p.Gly344Arg) single nucleotide variant not specified [RCV004226563] Chr22:21026056 [GRCh38]
Chr22:21380345 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_005446.5(P2RX6):c.1139C>T (p.Pro380Leu) single nucleotide variant not specified [RCV004220867] Chr22:21026430 [GRCh38]
Chr22:21380719 [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_005446.5(P2RX6):c.155A>G (p.Tyr52Cys) single nucleotide variant not specified [RCV004216269] Chr22:21015329 [GRCh38]
Chr22:21369618 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_005446.5(P2RX6):c.392C>T (p.Pro131Leu) single nucleotide variant not specified [RCV004172708] Chr22:21022680 [GRCh38]
Chr22:21376969 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_005446.5(P2RX6):c.899C>T (p.Thr300Ile) single nucleotide variant not specified [RCV004172292] Chr22:21025813 [GRCh38]
Chr22:21380102 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_005446.5(P2RX6):c.461A>G (p.His154Arg) single nucleotide variant not specified [RCV004245353] Chr22:21022749 [GRCh38]
Chr22:21377038 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_005446.5(P2RX6):c.728T>C (p.Ile243Thr) single nucleotide variant not specified [RCV004233889] Chr22:21023364 [GRCh38]
Chr22:21377653 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:21119425-21431174)x3 copy number gain not provided [RCV002509022] Chr22:21119425..21431174 [GRCh37]
Chr22:22q11.21
not provided
NM_005446.5(P2RX6):c.1213C>T (p.Arg405Trp) single nucleotide variant not specified [RCV004177834] Chr22:21026504 [GRCh38]
Chr22:21380793 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_005446.5(P2RX6):c.857C>A (p.Ser286Tyr) single nucleotide variant not specified [RCV004087836] Chr22:21023585 [GRCh38]
Chr22:21377874 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_005446.5(P2RX6):c.325G>A (p.Val109Met) single nucleotide variant not specified [RCV004085844] Chr22:21017998 [GRCh38]
Chr22:21372287 [GRCh37]
Chr22:22q11.21
uncertain significance
Single allele deletion See cases [RCV003154622] Chr22:18893886..21386103 [GRCh37]
Chr22:22q11.21
pathogenic
NM_005446.5(P2RX6):c.1235C>A (p.Thr412Lys) single nucleotide variant not specified [RCV004309125] Chr22:21026526 [GRCh38]
Chr22:21380815 [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_005446.5(P2RX6):c.217T>A (p.Phe73Ile) single nucleotide variant not specified [RCV004269902] Chr22:21015994 [GRCh38]
Chr22:21370283 [GRCh37]
Chr22:22q11.21
likely benign
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
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
GRCh38/hg38 22q11.21(chr22:18985739-21081116)x1 copy number loss DiGeorge syndrome [RCV003327705] Chr22:18985739..21081116 [GRCh38]
Chr22:22q11.21
pathogenic
NM_005446.5(P2RX6):c.917C>T (p.Pro306Leu) single nucleotide variant not specified [RCV004337696] Chr22:21025831 [GRCh38]
Chr22:21380120 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_005446.5(P2RX6):c.970C>T (p.Leu324Phe) single nucleotide variant not specified [RCV004343723] Chr22:21025884 [GRCh38]
Chr22:21380173 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_005446.5(P2RX6):c.50C>T (p.Thr17Met) single nucleotide variant not specified [RCV004350752] Chr22:21015224 [GRCh38]
Chr22:21369513 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_005446.5(P2RX6):c.852C>G (p.His284Gln) single nucleotide variant not specified [RCV004354481] Chr22:21023580 [GRCh38]
Chr22:21377869 [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
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
GRCh37/hg19 22q11.21(chr22:20730144-21464764)x1 copy number loss See cases [RCV004442797] Chr22:20730144..21464764 [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
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(chr22:20723686-21800471)x1 copy number loss not provided [RCV004442815] Chr22:20723686..21800471 [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
GRCh37/hg19 22q11.21(chr22:21061979-21418457)x3 copy number gain not provided [RCV003885496] Chr22:21061979..21418457 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:18649190-21800471)x3 copy number gain not provided [RCV004442843] Chr22:18649190..21800471 [GRCh37]
Chr22:22q11.21
pathogenic
NM_005446.5(P2RX6):c.223A>G (p.Ile75Val) single nucleotide variant not specified [RCV004497496] Chr22:21016000 [GRCh38]
Chr22:21370289 [GRCh37]
Chr22:22q11.21
likely benign
NM_005446.5(P2RX6):c.563C>T (p.Pro188Leu) single nucleotide variant not specified [RCV004497499] Chr22:21023123 [GRCh38]
Chr22:21377412 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_005446.5(P2RX6):c.931C>T (p.Arg311Cys) single nucleotide variant not specified [RCV004497501] Chr22:21025845 [GRCh38]
Chr22:21380134 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_005446.5(P2RX6):c.1001T>G (p.Leu334Arg) single nucleotide variant not specified [RCV004497490] Chr22:21026027 [GRCh38]
Chr22:21380316 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_005446.5(P2RX6):c.1048G>A (p.Val350Met) single nucleotide variant not specified [RCV004497491] Chr22:21026074 [GRCh38]
Chr22:21380363 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_005446.5(P2RX6):c.110G>T (p.Arg37Leu) single nucleotide variant not specified [RCV004497492] Chr22:21015284 [GRCh38]
Chr22:21369573 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_005446.5(P2RX6):c.161T>G (p.Val54Gly) single nucleotide variant not specified [RCV004497494] Chr22:21015335 [GRCh38]
Chr22:21369624 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_005446.5(P2RX6):c.178G>T (p.Ala60Ser) single nucleotide variant not specified [RCV004497495] Chr22:21015955 [GRCh38]
Chr22:21370244 [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
NM_005446.5(P2RX6):c.1214G>A (p.Arg405Gln) single nucleotide variant not specified [RCV004497493] Chr22:21026505 [GRCh38]
Chr22:21380794 [GRCh37]
Chr22:22q11.21
likely benign
GRCh37/hg19 22q11.21(chr22:18888685-21465668)x1 copy number loss not provided [RCV004577450] Chr22:18888685..21465668 [GRCh37]
Chr22:22q11.21
pathogenic
NM_005446.5(P2RX6):c.314A>T (p.Gln105Leu) single nucleotide variant not specified [RCV004497498] Chr22:21016091 [GRCh38]
Chr22:21370380 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_005446.5(P2RX6):c.745A>G (p.Lys249Glu) single nucleotide variant not specified [RCV004497500] Chr22:21023381 [GRCh38]
Chr22:21377670 [GRCh37]
Chr22:22q11.21
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:9573
Count of miRNA genes:1018
Interacting mature miRNAs:1270
Transcripts:ENST00000336296, ENST00000401443, ENST00000402329, ENST00000413302, ENST00000422210, ENST00000432930, ENST00000442475, ENST00000443995, ENST00000452228, ENST00000469722, ENST00000487342, ENST00000591411
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.

Markers in Region
D22S548  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372221,367,818 - 21,368,086UniSTSGRCh37
GRCh372221,400,644 - 21,400,997UniSTSGRCh37
Build 362219,697,818 - 19,698,086RGDNCBI36
Celera224,891,946 - 4,892,299UniSTS
Celera224,859,121 - 4,859,389RGD
Cytogenetic Map22q11.21UniSTS
HuRef224,668,928 - 4,669,281UniSTS
HuRef224,636,103 - 4,636,371UniSTS
D22S1239  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372221,383,095 - 21,383,227UniSTSGRCh37
Build 362219,713,095 - 19,713,227RGDNCBI36
Celera224,874,397 - 4,874,529RGD
Cytogenetic Map22q11.21UniSTS
HuRef224,651,379 - 4,651,511UniSTS
GeneMap99-G3 RH Map22164.0UniSTS
SLC7A4__3865  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372221,382,895 - 21,383,455UniSTSGRCh37
Build 362219,712,895 - 19,713,455RGDNCBI36
Celera224,874,197 - 4,874,757RGD
HuRef224,651,179 - 4,651,739UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 1 6 239 4 178 793 764 520 1 183 8 4 22 758
Low 1752 1672 496 158 320 105 2387 1022 3106 188 1016 804 62 906 1398 3
Below cutoff 644 1260 921 422 1098 320 1120 403 82 188 212 737 104 276 631 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001159554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005261819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007067990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007067991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007067992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_937950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_937952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_937953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB002058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB002059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC002472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF065385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC109209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI753477 (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
  CR456535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA333742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000401443   ⟹   ENSP00000385309
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2221,015,170 - 21,027,198 (+)Ensembl
RefSeq Acc Id: ENST00000413302   ⟹   ENSP00000416193
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2221,015,165 - 21,028,008 (+)Ensembl
RefSeq Acc Id: ENST00000422210   ⟹   ENSP00000407920
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2221,015,190 - 21,028,013 (+)Ensembl
RefSeq Acc Id: ENST00000432930   ⟹   ENSP00000404223
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2221,015,187 - 21,028,008 (+)Ensembl
RefSeq Acc Id: ENST00000442475   ⟹   ENSP00000401192
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2221,015,153 - 21,028,008 (+)Ensembl
RefSeq Acc Id: ENST00000452228   ⟹   ENSP00000398347
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2221,015,183 - 21,023,152 (+)Ensembl
RefSeq Acc Id: ENST00000469722
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2221,015,175 - 21,018,791 (+)Ensembl
RefSeq Acc Id: ENST00000487342
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2221,023,349 - 21,026,597 (+)Ensembl
RefSeq Acc Id: ENST00000591411
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2221,009,808 - 21,017,942 (+)Ensembl
RefSeq Acc Id: NM_001159554   ⟹   NP_001153026
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382221,015,165 - 21,028,008 (+)NCBI
GRCh372221,369,442 - 21,382,302 (+)RGD
Celera224,860,745 - 4,873,604 (+)RGD
HuRef224,637,727 - 4,650,586 (+)ENTREZGENE
CHM1_12221,369,657 - 21,382,503 (+)NCBI
T2T-CHM13v2.02221,423,939 - 21,436,767 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001349874   ⟹   NP_001336803
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382221,015,165 - 21,028,008 (+)NCBI
T2T-CHM13v2.02221,423,939 - 21,436,767 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001349875   ⟹   NP_001336804
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382221,015,165 - 21,028,008 (+)NCBI
T2T-CHM13v2.02221,423,939 - 21,436,767 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001349876   ⟹   NP_001336805
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382221,015,165 - 21,028,008 (+)NCBI
T2T-CHM13v2.02221,423,939 - 21,436,767 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001394691   ⟹   NP_001381620
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382221,015,165 - 21,028,008 (+)NCBI
T2T-CHM13v2.02221,423,939 - 21,436,767 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001394692   ⟹   NP_001381621
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382221,015,165 - 21,028,008 (+)NCBI
T2T-CHM13v2.02221,423,939 - 21,436,767 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001394693   ⟹   NP_001381622
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382221,015,165 - 21,028,008 (+)NCBI
T2T-CHM13v2.02221,423,939 - 21,436,767 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001394694   ⟹   NP_001381623
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382221,015,165 - 21,028,008 (+)NCBI
T2T-CHM13v2.02221,423,939 - 21,436,767 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001394695   ⟹   NP_001381624
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382221,015,165 - 21,028,008 (+)NCBI
T2T-CHM13v2.02221,423,939 - 21,436,767 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001394696   ⟹   NP_001381625
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382221,015,165 - 21,028,008 (+)NCBI
T2T-CHM13v2.02221,423,939 - 21,436,767 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001394697   ⟹   NP_001381626
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382221,015,165 - 21,028,008 (+)NCBI
T2T-CHM13v2.02221,423,939 - 21,436,767 (+)NCBI
Sequence:
RefSeq Acc Id: NM_005446   ⟹   NP_005437
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382221,015,165 - 21,028,008 (+)NCBI
GRCh372221,369,442 - 21,382,302 (+)RGD
Build 362219,699,464 - 19,712,302 (+)NCBI Archive
Celera224,860,745 - 4,873,604 (+)RGD
HuRef224,637,727 - 4,650,586 (+)ENTREZGENE
CHM1_12221,369,679 - 21,382,503 (+)NCBI
T2T-CHM13v2.02221,423,939 - 21,436,767 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530498   ⟹   XP_011528800
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382221,015,165 - 21,028,008 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530499   ⟹   XP_011528801
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382221,015,165 - 21,028,008 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530500   ⟹   XP_011528802
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382221,015,165 - 21,028,008 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530502   ⟹   XP_011528804
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382221,015,165 - 21,026,087 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029066   ⟹   XP_016884555
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382221,015,165 - 21,028,008 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029068   ⟹   XP_016884557
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382221,015,165 - 21,028,008 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029074   ⟹   XP_016884563
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382221,015,455 - 21,028,008 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029075   ⟹   XP_016884564
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382221,009,799 - 21,028,008 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047441587   ⟹   XP_047297543
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382221,015,165 - 21,028,008 (+)NCBI
RefSeq Acc Id: XM_047441588   ⟹   XP_047297544
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382221,015,165 - 21,028,008 (+)NCBI
RefSeq Acc Id: XM_047441589   ⟹   XP_047297545
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382221,016,072 - 21,028,008 (+)NCBI
RefSeq Acc Id: XM_047441590   ⟹   XP_047297546
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382221,015,165 - 21,028,008 (+)NCBI
RefSeq Acc Id: XM_047441591   ⟹   XP_047297547
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382221,015,690 - 21,028,008 (+)NCBI
RefSeq Acc Id: XM_054326111   ⟹   XP_054182086
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02221,423,939 - 21,436,767 (+)NCBI
RefSeq Acc Id: XM_054326112   ⟹   XP_054182087
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02221,423,939 - 21,436,767 (+)NCBI
RefSeq Acc Id: XM_054326113   ⟹   XP_054182088
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02221,423,939 - 21,436,767 (+)NCBI
RefSeq Acc Id: XM_054326114   ⟹   XP_054182089
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02221,423,939 - 21,436,767 (+)NCBI
RefSeq Acc Id: XM_054326115   ⟹   XP_054182090
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02221,423,939 - 21,436,767 (+)NCBI
RefSeq Acc Id: XM_054326116   ⟹   XP_054182091
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02221,423,939 - 21,436,767 (+)NCBI
RefSeq Acc Id: XM_054326117   ⟹   XP_054182092
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02221,423,939 - 21,436,767 (+)NCBI
RefSeq Acc Id: XM_054326118   ⟹   XP_054182093
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02221,424,846 - 21,436,767 (+)NCBI
RefSeq Acc Id: XM_054326119   ⟹   XP_054182094
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02221,423,939 - 21,436,767 (+)NCBI
RefSeq Acc Id: XM_054326120   ⟹   XP_054182095
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02221,423,939 - 21,434,846 (+)NCBI
RefSeq Acc Id: XM_054326121   ⟹   XP_054182096
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02221,424,229 - 21,436,767 (+)NCBI
RefSeq Acc Id: XR_007067990
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382221,015,165 - 21,028,008 (+)NCBI
RefSeq Acc Id: XR_007067991
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382221,015,165 - 21,028,008 (+)NCBI
RefSeq Acc Id: XR_007067992
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382221,015,165 - 21,028,008 (+)NCBI
RefSeq Acc Id: XR_008485430
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02221,423,939 - 21,436,767 (+)NCBI
RefSeq Acc Id: XR_008485431
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02221,423,939 - 21,436,767 (+)NCBI
RefSeq Acc Id: XR_008485432
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02221,423,939 - 21,436,767 (+)NCBI
RefSeq Acc Id: XR_008485433
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02221,423,939 - 21,436,767 (+)NCBI
RefSeq Acc Id: XR_008485434
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02221,423,939 - 21,436,767 (+)NCBI
RefSeq Acc Id: XR_937950
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382221,015,165 - 21,028,008 (+)NCBI
Sequence:
RefSeq Acc Id: XR_937952
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382221,015,165 - 21,028,008 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001153026 (Get FASTA)   NCBI Sequence Viewer  
  NP_001336803 (Get FASTA)   NCBI Sequence Viewer  
  NP_001336804 (Get FASTA)   NCBI Sequence Viewer  
  NP_001336805 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381620 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381621 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381622 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381623 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381624 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381625 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381626 (Get FASTA)   NCBI Sequence Viewer  
  NP_005437 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528800 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528801 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528802 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528804 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884555 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884557 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884563 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884564 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297543 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297544 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297545 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297546 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297547 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182086 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182087 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182088 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182089 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182090 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182091 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182092 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182093 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182094 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182095 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182096 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF13303 (Get FASTA)   NCBI Sequence Viewer  
  AAH33488 (Get FASTA)   NCBI Sequence Viewer  
  AAH47287 (Get FASTA)   NCBI Sequence Viewer  
  AAH64805 (Get FASTA)   NCBI Sequence Viewer  
  AAI09210 (Get FASTA)   NCBI Sequence Viewer  
  BAA22046 (Get FASTA)   NCBI Sequence Viewer  
  BAA22047 (Get FASTA)   NCBI Sequence Viewer  
  CAG30421 (Get FASTA)   NCBI Sequence Viewer  
  EAX02910 (Get FASTA)   NCBI Sequence Viewer  
  EAX02911 (Get FASTA)   NCBI Sequence Viewer  
  EAX02912 (Get FASTA)   NCBI Sequence Viewer  
  EAX02913 (Get FASTA)   NCBI Sequence Viewer  
  EAX02914 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000385309
  ENSP00000385309.1
  ENSP00000398347.1
  ENSP00000401192.1
  ENSP00000404223.1
  ENSP00000407920.1
  ENSP00000416193
  ENSP00000416193.2
GenBank Protein O15547 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_005437   ⟸   NM_005446
- Peptide Label: isoform 1
- UniProtKB: Q6IC33 (UniProtKB/Swiss-Prot),   Q58F04 (UniProtKB/Swiss-Prot),   Q32MB6 (UniProtKB/Swiss-Prot),   F6V3D7 (UniProtKB/Swiss-Prot),   Q9UL50 (UniProtKB/Swiss-Prot),   O15547 (UniProtKB/Swiss-Prot),   C9JQN0 (UniProtKB/TrEMBL),   Q05BG9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001153026   ⟸   NM_001159554
- Peptide Label: isoform 2
- UniProtKB: C9JQN0 (UniProtKB/TrEMBL),   Q05BG9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011528800   ⟸   XM_011530498
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011528801   ⟸   XM_011530499
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011528802   ⟸   XM_011530500
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011528804   ⟸   XM_011530502
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_016884564   ⟸   XM_017029075
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_016884555   ⟸   XM_017029066
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016884557   ⟸   XM_017029068
- Peptide Label: isoform X7
- UniProtKB: C9JQN0 (UniProtKB/TrEMBL),   Q05BG9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016884563   ⟸   XM_017029074
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: NP_001336804   ⟸   NM_001349875
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: NP_001336803   ⟸   NM_001349874
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: NP_001336805   ⟸   NM_001349876
- Peptide Label: isoform 4
- Sequence:
RefSeq Acc Id: ENSP00000416193   ⟸   ENST00000413302
RefSeq Acc Id: ENSP00000398347   ⟸   ENST00000452228
RefSeq Acc Id: ENSP00000385309   ⟸   ENST00000401443
RefSeq Acc Id: ENSP00000401192   ⟸   ENST00000442475
RefSeq Acc Id: ENSP00000404223   ⟸   ENST00000432930
RefSeq Acc Id: ENSP00000407920   ⟸   ENST00000422210
RefSeq Acc Id: NP_001381625   ⟸   NM_001394696
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001381621   ⟸   NM_001394692
- Peptide Label: isoform 6
- UniProtKB: C9JQN0 (UniProtKB/TrEMBL),   Q05BG9 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001381620   ⟸   NM_001394691
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001381626   ⟸   NM_001394697
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001381622   ⟸   NM_001394693
- Peptide Label: isoform 7
- UniProtKB: C9JQN0 (UniProtKB/TrEMBL),   Q05BG9 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001381624   ⟸   NM_001394695
- Peptide Label: isoform 9
- UniProtKB: C9JQN0 (UniProtKB/TrEMBL),   Q05BG9 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001381623   ⟸   NM_001394694
- Peptide Label: isoform 8
- UniProtKB: C9JQN0 (UniProtKB/TrEMBL),   Q05BG9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297546   ⟸   XM_047441590
- Peptide Label: isoform X9
- UniProtKB: C9JQN0 (UniProtKB/TrEMBL),   Q05BG9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297543   ⟸   XM_047441587
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047297544   ⟸   XM_047441588
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047297547   ⟸   XM_047441591
- Peptide Label: isoform X11
RefSeq Acc Id: XP_047297545   ⟸   XM_047441589
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054182086   ⟸   XM_054326111
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054182092   ⟸   XM_054326117
- Peptide Label: isoform X7
- UniProtKB: C9JQN0 (UniProtKB/TrEMBL),   Q05BG9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182091   ⟸   XM_054326116
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054182087   ⟸   XM_054326112
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054182094   ⟸   XM_054326119
- Peptide Label: isoform X9
- UniProtKB: C9JQN0 (UniProtKB/TrEMBL),   Q05BG9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182089   ⟸   XM_054326114
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054182088   ⟸   XM_054326113
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054182090   ⟸   XM_054326115
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054182095   ⟸   XM_054326120
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054182096   ⟸   XM_054326121
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054182093   ⟸   XM_054326118
- Peptide Label: isoform X8

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O15547-F1-model_v2 AlphaFold O15547 1-441 view protein structure

Promoters
RGD ID:6800215
Promoter ID:HG_KWN:41710
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Lymphoblastoid,   NB4
Transcripts:ENST00000402329,   NM_001159554,   OTTHUMT00000320426,   OTTHUMT00000320431,   UC002ZUA.2,   UC002ZUC.1,   UC010GST.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362219,698,596 - 19,699,372 (+)MPROMDB
RGD ID:13603308
Promoter ID:EPDNEW_H27838
Type:initiation region
Name:P2RX6_1
Description:purinergic receptor P2X 6
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
GRCh382221,015,170 - 21,015,230EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8538 AgrOrtholog
COSMIC P2RX6 COSMIC
Ensembl Genes ENSG00000099957 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000401443 ENTREZGENE
  ENST00000401443.5 UniProtKB/Swiss-Prot
  ENST00000413302 ENTREZGENE
  ENST00000413302.7 UniProtKB/Swiss-Prot
  ENST00000422210 ENTREZGENE
  ENST00000422210.5 UniProtKB/TrEMBL
  ENST00000432930 ENTREZGENE
  ENST00000432930.5 UniProtKB/TrEMBL
  ENST00000442475.5 UniProtKB/TrEMBL
  ENST00000452228.5 UniProtKB/TrEMBL
Gene3D-CATH 2.60.490.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  atp-gated p2x4 ion channel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000099957 GTEx
HGNC ID HGNC:8538 ENTREZGENE
Human Proteome Map P2RX6 Human Proteome Map
InterPro P2X6_purnocptor UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P2X_extracellular_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P2X_purnocptor UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9127 UniProtKB/Swiss-Prot
NCBI Gene 9127 ENTREZGENE
OMIM 608077 OMIM
PANTHER P2X PURINOCEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10125:SF21 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam P2X_receptor UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162398523 PharmGKB
PIRSF P2X_purinoceptor UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS P2X6RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P2XRECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE P2X_RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt C9JQN0 ENTREZGENE
  E7ES48_HUMAN UniProtKB/TrEMBL
  F6V3D7 ENTREZGENE
  H7C140_HUMAN UniProtKB/TrEMBL
  H7C266_HUMAN UniProtKB/TrEMBL
  H7C2V4_HUMAN UniProtKB/TrEMBL
  O15547 ENTREZGENE, UniProtKB/Swiss-Prot
  Q05BG9 ENTREZGENE, UniProtKB/TrEMBL
  Q32MB6 ENTREZGENE
  Q58F04 ENTREZGENE
  Q6IC33 ENTREZGENE
  Q6P1Z3_HUMAN UniProtKB/TrEMBL
  Q9UL50 ENTREZGENE
UniProt Secondary C9JQN0 UniProtKB/TrEMBL
  E9PG97 UniProtKB/TrEMBL
  F6V3D7 UniProtKB/Swiss-Prot
  Q32MB6 UniProtKB/Swiss-Prot
  Q58F04 UniProtKB/Swiss-Prot
  Q6IC33 UniProtKB/Swiss-Prot
  Q9UL50 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 P2RX6  purinergic receptor P2X 6  P2RX6  purinergic receptor P2X, ligand gated ion channel, 6  Symbol and/or name change 5135510 APPROVED
2015-01-20 P2RX6  purinergic receptor P2X, ligand gated ion channel, 6  P2RX6  purinergic receptor P2X, ligand-gated ion channel, 6  Symbol and/or name change 5135510 APPROVED