TRMT2A (tRNA methyltransferase 2 homolog A) - Rat Genome Database

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Gene: TRMT2A (tRNA methyltransferase 2 homolog A) Homo sapiens
Analyze
Symbol: TRMT2A
Name: tRNA methyltransferase 2 homolog A
RGD ID: 1604368
HGNC Page HGNC:24974
Description: Enables C-methyltransferase activity and tRNA (uracil(54)-C5)-methyltransferase activity, S-adenosyl methionine-dependent. Predicted to be involved in mRNA processing; methylation; and tRNA processing. Predicted to be located in cytoplasm. Predicted to be active in cytosol.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: hpaII tiny fragments locus 9c protein; HTF9C; MGC102728; mRNA (uracil-5-)-methyltransferase TRMT2A; TRM2 tRNA methyltransferase 2 homolog A; tRNA (uracil-5-)-methyltransferase homolog A
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382220,111,875 - 20,117,226 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2220,111,875 - 20,117,392 (-)EnsemblGRCh38hg38GRCh38
GRCh372220,099,398 - 20,104,749 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362218,479,398 - 18,484,768 (-)NCBINCBI36Build 36hg18NCBI36
Celera223,951,448 - 3,956,818 (-)NCBICelera
Cytogenetic Map22q11.21ENTREZGENE
HuRef223,720,050 - 3,725,479 (-)NCBIHuRef
CHM1_12220,099,073 - 20,104,502 (-)NCBICHM1_1
T2T-CHM13v2.02220,490,925 - 20,496,276 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IEA)
cytosol  (IEA,TAS)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9417108   PMID:10591208   PMID:12477932   PMID:14702039   PMID:15461802   PMID:15489334   PMID:18029348   PMID:18075473   PMID:19615732   PMID:20307320   PMID:21244100   PMID:21832049  
PMID:21900206   PMID:21903422   PMID:22658674   PMID:22678362   PMID:22939629   PMID:24163370   PMID:24778252   PMID:24797263   PMID:24981860   PMID:25476789   PMID:25609649   PMID:26186194  
PMID:26344197   PMID:28514442   PMID:29540532   PMID:29656893   PMID:29802200   PMID:29844126   PMID:30502085   PMID:31091453   PMID:31361898   PMID:31753913   PMID:32296183   PMID:32694731  
PMID:32807901   PMID:32838362   PMID:33001583   PMID:33060197   PMID:33462405   PMID:33711283   PMID:33729478   PMID:33799331   PMID:33961781   PMID:34123281   PMID:34556860   PMID:35013218  
PMID:35241646   PMID:35271311   PMID:35384245   PMID:35563538   PMID:35944360   PMID:36114006   PMID:36215168   PMID:36424410   PMID:36538041   PMID:36574265   PMID:36736316   PMID:37267103  
PMID:37314216   PMID:37317656   PMID:37395448   PMID:38777146   PMID:38803224  


Genomics

Comparative Map Data
TRMT2A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382220,111,875 - 20,117,226 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2220,111,875 - 20,117,392 (-)EnsemblGRCh38hg38GRCh38
GRCh372220,099,398 - 20,104,749 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362218,479,398 - 18,484,768 (-)NCBINCBI36Build 36hg18NCBI36
Celera223,951,448 - 3,956,818 (-)NCBICelera
Cytogenetic Map22q11.21ENTREZGENE
HuRef223,720,050 - 3,725,479 (-)NCBIHuRef
CHM1_12220,099,073 - 20,104,502 (-)NCBICHM1_1
T2T-CHM13v2.02220,490,925 - 20,496,276 (-)NCBIT2T-CHM13v2.0
Trmt2a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391618,066,747 - 18,072,636 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1618,066,543 - 18,072,636 (+)EnsemblGRCm39 Ensembl
GRCm381618,248,847 - 18,254,772 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1618,248,679 - 18,254,772 (+)EnsemblGRCm38mm10GRCm38
MGSCv371618,248,976 - 18,253,595 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361618,162,242 - 18,167,065 (+)NCBIMGSCv36mm8
Celera1618,821,629 - 18,826,248 (+)NCBICelera
Cytogenetic Map16A3NCBI
cM Map1611.31NCBI
Trmt2a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81196,241,998 - 96,246,719 (-)NCBIGRCr8
mRatBN7.21182,737,689 - 82,742,423 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1182,737,689 - 82,742,336 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1191,466,077 - 91,470,686 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01184,127,305 - 84,131,914 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01183,180,820 - 83,185,429 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01186,885,671 - 86,890,482 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1186,885,626 - 86,890,390 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01189,979,609 - 89,984,427 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41184,731,490 - 84,736,099 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11184,772,087 - 84,776,696 (-)NCBI
Celera1181,514,696 - 81,519,305 (-)NCBICelera
Cytogenetic Map11q23NCBI
Trmt2a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544217,993,434 - 17,997,850 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544217,993,130 - 17,997,944 (+)NCBIChiLan1.0ChiLan1.0
TRMT2A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22329,738,978 - 29,744,352 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12232,285,632 - 32,291,342 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0222,872,328 - 2,877,732 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12218,544,736 - 18,550,174 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2218,544,736 - 18,550,174 (-)Ensemblpanpan1.1panPan2
TRMT2A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12629,219,549 - 29,224,155 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2629,219,812 - 29,226,233 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2629,178,491 - 29,183,068 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02630,623,618 - 30,628,196 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2630,623,786 - 30,630,273 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12628,671,464 - 28,676,060 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02628,296,828 - 28,301,424 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02629,381,756 - 29,386,414 (+)NCBIUU_Cfam_GSD_1.0
Trmt2a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118138,734,886 - 138,739,581 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366194,014,508 - 4,020,569 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366194,015,072 - 4,020,163 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TRMT2A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1451,489,892 - 51,494,190 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11451,489,889 - 51,494,204 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21455,126,931 - 55,131,237 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TRMT2A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1195,622,542 - 5,627,923 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl195,622,630 - 5,627,257 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660851,305,872 - 1,311,254 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Trmt2a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624747722,607 - 727,947 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624747722,901 - 727,979 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TRMT2A
50 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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(chr22:18915347-21463730)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(chr22:18339130-20671425)x1 copy number loss See cases [RCV000050290] Chr22:18339130..20671425 [GRCh38]
Chr22:18706001..21025713 [GRCh37]
Chr22:17086001..19355713 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 copy number gain See cases [RCV000050991] Chr22:18339130..21086225 [GRCh38]
Chr22:18919942..21440514 [GRCh37]
Chr22:17299942..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 copy number loss See cases [RCV000050992] Chr22:18339130..21086225 [GRCh38]
Chr22:18919942..21440514 [GRCh37]
Chr22:17299942..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20324240)x3 copy number gain See cases [RCV000050858] Chr22:16916608..20324240 [GRCh38]
Chr22:17397498..20311763 [GRCh37]
Chr22:15777498..18691763 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20324240)x1 copy number loss See cases [RCV000050859] Chr22:16916608..20324240 [GRCh38]
Chr22:17397498..20311763 [GRCh37]
Chr22:15777498..18691763 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.21-12.3(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 22q11.1-11.21(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(chr22:18339130-20343532)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050729]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050729]|See cases [RCV000050729] Chr22:18339130..20343532 [GRCh38]
Chr22:18919942..20659606 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3 copy number gain See cases [RCV000050628] Chr22:18339130..21454720 [GRCh38]
Chr22:18919942..21809009 [GRCh37]
Chr22:17299942..20139009 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)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 22q11.1-11.21(chr22:16538125-20363937)x1 copy number loss See cases [RCV000051270] Chr22:16538125..20363937 [GRCh38]
Chr22:17019015..20718227 [GRCh37]
Chr22:15399015..19048227 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18145052-21086366)x1 copy number loss See cases [RCV000051271] Chr22:18145052..21086366 [GRCh38]
Chr22:18627819..21440655 [GRCh37]
Chr22:17007819..19770655 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18145252-21151128)x1 copy number loss See cases [RCV000051272] Chr22:18145252..21151128 [GRCh38]
Chr22:18628019..21505417 [GRCh37]
Chr22:17008019..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18167908-21101267)x3 copy number gain See cases [RCV000051273] Chr22:18167908..21101267 [GRCh38]
Chr22:18650675..21455556 [GRCh37]
Chr22:17030675..19785556 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18167908-21101267)x1 copy number loss See cases [RCV000051275] Chr22:18167908..21101267 [GRCh38]
Chr22:18650675..21455556 [GRCh37]
Chr22:17030675..19785556 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18177786-21101267)x3 copy number gain See cases [RCV000051276] Chr22:18177786..21101267 [GRCh38]
Chr22:18660553..21455556 [GRCh37]
Chr22:17040553..19785556 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18177786-21101267)x1 copy number loss See cases [RCV000051278] Chr22:18177786..21101267 [GRCh38]
Chr22:18660553..21455556 [GRCh37]
Chr22:17040553..19785556 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21086225)x1 copy number loss See cases [RCV000051283] Chr22:18178957..21086225 [GRCh38]
Chr22:18661724..21440514 [GRCh37]
Chr22:17041724..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18188862-21182552)x1 copy number loss See cases [RCV000051286] Chr22:18188862..21182552 [GRCh38]
Chr22:18671629..21536841 [GRCh37]
Chr22:17051629..19866841 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151269)x1 copy number loss See cases [RCV000051295] Chr22:18339130..21151269 [GRCh38]
Chr22:18705801..21505558 [GRCh37]
Chr22:17085801..19835558 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086366)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051296]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051296]|See cases [RCV000051296] Chr22:18339130..21086366 [GRCh38]
Chr22:18705801..21440655 [GRCh37]
Chr22:17085801..19770655 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1 copy number loss See cases [RCV000051297] Chr22:18339130..20343532 [GRCh38]
Chr22:18706001..20659606 [GRCh37]
Chr22:17086001..18989606 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x1 copy number loss See cases [RCV000051298] Chr22:18339130..21454720 [GRCh38]
Chr22:18706001..21809009 [GRCh37]
Chr22:17086001..20139009 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18886943-20318794)x1 copy number loss See cases [RCV000051299] Chr22:18886943..20318794 [GRCh38]
Chr22:18874456..20306317 [GRCh37]
Chr22:17254456..18686317 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18902758-20340590)x1 copy number loss See cases [RCV000051300] Chr22:18902758..20340590 [GRCh38]
Chr22:18890271..20328113 [GRCh37]
Chr22:17270271..18708113 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21107522)x1 copy number loss See cases [RCV000051301] Chr22:18339130..21107522 [GRCh38]
Chr22:18890271..21461811 [GRCh37]
Chr22:17270271..19791811 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1 copy number loss See cases [RCV000051319] Chr22:18339130..20343532 [GRCh38]
Chr22:18890271..20659606 [GRCh37]
Chr22:17270271..18989606 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21040441)x1 copy number loss See cases [RCV000051321] Chr22:18339130..21040441 [GRCh38]
Chr22:18890271..21394730 [GRCh37]
Chr22:17270271..19724730 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 copy number gain See cases [RCV000051323] Chr22:18339130..21086225 [GRCh38]
Chr22:18896972..21440514 [GRCh37]
Chr22:17276972..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 copy number loss See cases [RCV000051324] Chr22:18339130..21086225 [GRCh38]
Chr22:18896972..21440514 [GRCh37]
Chr22:17276972..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086366)x1 copy number loss See cases [RCV000051325] Chr22:18339130..21086366 [GRCh38]
Chr22:18919742..21440655 [GRCh37]
Chr22:17299742..19770655 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20671566)x1 copy number loss See cases [RCV000051327] Chr22:18339130..20671566 [GRCh38]
Chr22:18919742..21025854 [GRCh37]
Chr22:17299742..19355854 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151269)x1 copy number loss See cases [RCV000051328] Chr22:18339130..21151269 [GRCh38]
Chr22:18919742..21505558 [GRCh37]
Chr22:17299742..19835558 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)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(chr22:18339130-20354644)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051035]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051035]|See cases [RCV000051035] Chr22:18339130..20354644 [GRCh38]
Chr22:18919942..20708934 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-20324240)x3 copy number gain See cases [RCV000051158] Chr22:18178957..20324240 [GRCh38]
Chr22:18661724..20311763 [GRCh37]
Chr22:17041724..18691763 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21151128)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(chr22:18169870-21559889)x3 copy number gain See cases [RCV000051918] Chr22:18169870..21559889 [GRCh38]
Chr22:18652637..21914178 [GRCh37]
Chr22:17032637..20244178 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x3 copy number gain See cases [RCV000051942] Chr22:18339130..21101267 [GRCh38]
Chr22:18950766..21455556 [GRCh37]
Chr22:17330766..19785556 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20588575)x3 copy number gain See cases [RCV000051943] Chr22:18339130..20588575 [GRCh38]
Chr22:19168758..20942862 [GRCh37]
Chr22:17519027..19272862 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21056995)x3 copy number gain See cases [RCV000051919] Chr22:18339130..21056995 [GRCh38]
Chr22:18704554..21411284 [GRCh37]
Chr22:17084554..19741284 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207381)x3 copy number gain See cases [RCV000051920] Chr22:18339130..21207381 [GRCh38]
Chr22:18705801..21561670 [GRCh37]
Chr22:17085801..19891670 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3 copy number gain See cases [RCV000051937] Chr22:18339130..21151128 [GRCh38]
Chr22:18890271..21505417 [GRCh37]
Chr22:17270271..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 copy number gain See cases [RCV000051938] Chr22:18339130..21207225 [GRCh38]
Chr22:18890271..21561514 [GRCh37]
Chr22:17270271..19891514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21444466)x3 copy number gain See cases [RCV000051939] Chr22:18339130..21444466 [GRCh38]
Chr22:18909038..21798755 [GRCh37]
Chr22:17289038..20128755 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 copy number gain See cases [RCV000051940] Chr22:18339130..21086225 [GRCh38]
Chr22:18909038..21440514 [GRCh37]
Chr22:17289038..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18932229-20324381)x3 copy number gain See cases [RCV000051941] Chr22:18932229..20324381 [GRCh38]
Chr22:18919742..20311904 [GRCh37]
Chr22:17299742..18691904 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20343532)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053103]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053103]|See cases [RCV000053103] Chr22:16916608..20343532 [GRCh38]
Chr22:17397498..20402677 [GRCh37]
Chr22:15777498..18782677 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3 copy number gain See cases [RCV000053104] Chr22:16916608..24358936 [GRCh38]
Chr22:17397498..24754904 [GRCh37]
Chr22:15777498..23084904 [NCBI36]
Chr22:22q11.1-11.23		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21107522)x1 copy number loss See cases [RCV000053047] Chr22:18339130..21107522 [GRCh38]
Chr22:19035017..21461811 [GRCh37]
Chr22:17415017..19791811 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053048]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053048]|See cases [RCV000053048] Chr22:18339130..21151128 [GRCh38]
Chr22:19358153..21505417 [GRCh37]
Chr22:17738153..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20671425)x1 copy number loss See cases [RCV000053003] Chr22:18339130..20671425 [GRCh38]
Chr22:18919942..21025713 [GRCh37]
Chr22:17299942..19355713 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18932429-20324240)x1 copy number loss See cases [RCV000053004] Chr22:18932429..20324240 [GRCh38]
Chr22:18919942..20311763 [GRCh37]
Chr22:17299942..18691763 [NCBI36]
Chr22:22q11.21		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x1 copy number loss See cases [RCV000053015] Chr22:18339130..21101267 [GRCh38]
Chr22:18938161..21455556 [GRCh37]
Chr22:17318161..19785556 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20641963)x1 copy number loss See cases [RCV000053025] Chr22:18339130..20641963 [GRCh38]
Chr22:18938161..20996250 [GRCh37]
Chr22:17318161..19326250 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x1 copy number loss See cases [RCV000053027] Chr22:18339130..21101267 [GRCh38]
Chr22:18962313..21455556 [GRCh37]
Chr22:17342313..19785556 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x1 copy number loss See cases [RCV000053029] Chr22:18339130..21101267 [GRCh38]
Chr22:18999803..21455556 [GRCh37]
Chr22:17379803..19785556 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss See cases [RCV000053032] Chr22:18339130..21151128 [GRCh38]
Chr22:19029602..21505417 [GRCh37]
Chr22:17409602..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151269)x1 copy number loss See cases [RCV000053006] Chr22:18339130..21151269 [GRCh38]
Chr22:18919942..21505558 [GRCh37]
Chr22:17299942..19835558 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18950648-20241494)x1 copy number loss See cases [RCV000053009] Chr22:18950648..20241494 [GRCh38]
Chr22:18938161..20229017 [GRCh37]
Chr22:17318161..18609017 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x3 copy number gain See cases [RCV000053012] Chr22:18339130..21101267 [GRCh38]
Chr22:18938161..21455556 [GRCh37]
Chr22:17318161..19785556 [NCBI36]
Chr22:22q11.21		 pathogenic
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
Single allele deletion Intellectual disability [RCV001293370] Chr22:18886915..21463730 [GRCh37]
Chr22:22q11.21		 pathogenic
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 Epilepsy [RCV001293366] Chr22:18889490..21463730 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20354644)x1 copy number loss See cases [RCV000051035] Chr22:18339130..20354644 [GRCh38]
Chr22:18919942..20708934 [GRCh37]
Chr22:17299942..19038934 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 copy number gain See cases [RCV000051023] Chr22:18339130..21086225 [GRCh38]
Chr22:18706001..21440514 [GRCh37]
Chr22:17086001..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18628019-20311763) copy number gain Motor delay [RCV001291948] Chr22:18628019..20311763 [GRCh37]
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(chr22:18339130-20343532)x3 copy number gain See cases [RCV000050729] Chr22:18339130..20343532 [GRCh38]
Chr22:18919942..20659606 [GRCh37]
Chr22:17299942..18989606 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x3 copy number gain See cases [RCV000133785] Chr22:16916608..20354644 [GRCh38]
Chr22:17397498..20708934 [GRCh37]
Chr22:15777498..19038934 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x1 copy number loss See cases [RCV000133786] Chr22:16916608..20354644 [GRCh38]
Chr22:17397498..20708934 [GRCh37]
Chr22:15777498..19038934 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20343532)x3 copy number gain See cases [RCV000133682] Chr22:16916608..20343532 [GRCh38]
Chr22:17397498..20659606 [GRCh37]
Chr22:15777498..18989606 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q11.21(chr22:18907322-20250683)x1 copy number loss See cases [RCV000134515] Chr22:18907322..20250683 [GRCh38]
Chr22:18894835..20238206 [GRCh37]
Chr22:17274835..18618206 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21107463)x3 copy number gain See cases [RCV000134519] Chr22:18339130..21107463 [GRCh38]
Chr22:18894835..21461752 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21107463)x1 copy number loss See cases [RCV000134520] Chr22:18339130..21107463 [GRCh38]
Chr22:18894835..21461752 [GRCh37]
Chr22:17274835..19791752 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1 copy number loss See cases [RCV000133998] Chr22:18339130..20343532 [GRCh38]
Chr22:18894835..20659606 [GRCh37]
Chr22:17274835..18989606 [NCBI36]
Chr22:22q11.21		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18178932-21151156)x3 copy number gain See cases [RCV000134128] Chr22:18178932..21151156 [GRCh38]
Chr22:18661699..21505445 [GRCh37]
Chr22:17041699..19835445 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178932-21151156)x1 copy number loss See cases [RCV000134130] Chr22:18178932..21151156 [GRCh38]
Chr22:18661699..21505445 [GRCh37]
Chr22:17041699..19835445 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086226)x3 copy number gain See cases [RCV000134084] Chr22:18339130..21086226 [GRCh38]
Chr22:18894820..21440515 [GRCh37]
Chr22:17274820..19770515 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086226)x1 copy number loss See cases [RCV000134085] Chr22:18339130..21086226 [GRCh38]
Chr22:18894820..21440515 [GRCh37]
Chr22:17274820..19770515 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18168847-21086166)x3 copy number gain See cases [RCV000135308] Chr22:18168847..21086166 [GRCh38]
Chr22:18651614..21440455 [GRCh37]
Chr22:17031614..19770455 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18145380-21086226)x1 copy number loss See cases [RCV000134837] Chr22:18145380..21086226 [GRCh38]
Chr22:18628147..21440515 [GRCh37]
Chr22:17008147..19770515 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18932429-20324240)x3 copy number gain See cases [RCV000135733] Chr22:18932429..20324240 [GRCh38]
Chr22:18919942..20311763 [GRCh37]
Chr22:17299942..18691763 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20354644)x3 copy number gain See cases [RCV000135512] Chr22:18339130..20354644 [GRCh38]
Chr22:18919942..20708934 [GRCh37]
Chr22:17299942..19038934 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-20343532)x1 copy number loss See cases [RCV000135619] Chr22:18178957..20343532 [GRCh38]
Chr22:18661724..20659606 [GRCh37]
Chr22:17041724..18989606 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21086225)x3 copy number gain See cases [RCV000135519] Chr22:18178957..21086225 [GRCh38]
Chr22:18661724..21440514 [GRCh37]
Chr22:17041724..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 copy number gain See cases [RCV000135456] Chr22:18339130..21207225 [GRCh38]
Chr22:19058829..21561514 [GRCh37]
Chr22:17438829..19891514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21307146)x3 copy number gain See cases [RCV000136518] Chr22:18178957..21307146 [GRCh38]
Chr22:18661724..21661435 [GRCh37]
Chr22:17041724..19991435 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18718488-20324240)x1 copy number loss See cases [RCV000136577] Chr22:18718488..20324240 [GRCh38]
Chr22:18706001..20311763 [GRCh37]
Chr22:17086001..18691763 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss See cases [RCV000136527] Chr22:18339130..21151128 [GRCh38]
Chr22:20311704..21505417 [GRCh37]
Chr22:18691704..19835417 [NCBI36]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.21(chr22:18339130-21003834)x3 copy number gain See cases [RCV000135898] Chr22:18339130..21003834 [GRCh38]
Chr22:18908832..21358123 [GRCh37]
Chr22:17288832..19688123 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21028664)x1 copy number loss See cases [RCV000136808] Chr22:18339130..21028664 [GRCh38]
Chr22:18896972..21382953 [GRCh37]
Chr22:17276972..19712953 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 copy number loss See cases [RCV000136677] Chr22:18339130..21086225 [GRCh38]
Chr22:19058829..21440514 [GRCh37]
Chr22:17438829..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18909459-20324240)x1 copy number loss See cases [RCV000136832] Chr22:18909459..20324240 [GRCh38]
Chr22:18896972..20311763 [GRCh37]
Chr22:17276972..18691763 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21441926)x1 copy number loss See cases [RCV000136758] Chr22:18339130..21441926 [GRCh38]
Chr22:18891526..21796215 [GRCh37]
Chr22:17271526..20126215 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21107522)x1 copy number loss See cases [RCV000137504] Chr22:18178957..21107522 [GRCh38]
Chr22:18661724..21461811 [GRCh37]
Chr22:17041724..19791811 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3 copy number gain See cases [RCV000138187] Chr22:18339130..21454720 [GRCh38]
Chr22:18894835..21809009 [GRCh37]
Chr22:17274835..20139009 [NCBI36]
Chr22:22q11.21		 pathogenic|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18907322-20324261)x3 copy number gain See cases [RCV000138026] Chr22:18907322..20324261 [GRCh38]
Chr22:18894835..20311784 [GRCh37]
Chr22:17274835..18691784 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18145252-21109830)x1 copy number loss See cases [RCV000137985] Chr22:18145252..21109830 [GRCh38]
Chr22:18628019..21464119 [GRCh37]
Chr22:17008019..19794119 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21107522)x1 copy number loss See cases [RCV000138169] Chr22:18339130..21107522 [GRCh38]
Chr22:18894835..21461811 [GRCh37]
Chr22:17274835..19791811 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18389245-21454720)x3 copy number gain See cases [RCV000137927] Chr22:18389245..21454720 [GRCh38]
Chr22:20659547..21809009 [GRCh37]
Chr22:18989547..20139009 [NCBI36]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.21(chr22:18339130-21109830)x1 copy number loss See cases [RCV000137960] Chr22:18339130..21109830 [GRCh38]
Chr22:18894835..21464119 [GRCh37]
Chr22:17274835..19794119 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21109830)x1 copy number loss See cases [RCV000138671] Chr22:18178957..21109830 [GRCh38]
Chr22:18661724..21464119 [GRCh37]
Chr22:17041724..19794119 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21109830)x1 copy number loss See cases [RCV000138354] Chr22:18339130..21109830 [GRCh38]
Chr22:18706001..21464119 [GRCh37]
Chr22:17086001..19794119 [NCBI36]
Chr22:22q11.21		 pathogenic|conflicting data from submitters
GRCh38/hg38 22q11.21-11.22(chr22:18178932-22562620)x3 copy number gain See cases [RCV000139316] Chr22:18178932..22562620 [GRCh38]
Chr22:18661699..22905025 [GRCh37]
Chr22:17041699..21235025 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151156)x3 copy number gain See cases [RCV000139000] Chr22:18339130..21151156 [GRCh38]
Chr22:18894820..21505445 [GRCh37]
Chr22:17274820..19835445 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x3 copy number gain See cases [RCV000139955] Chr22:18339130..21111373 [GRCh38]
Chr22:18916828..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21107463)x3 copy number gain See cases [RCV000141416] Chr22:18178957..21107463 [GRCh38]
Chr22:18661724..21461752 [GRCh37]
Chr22:17041724..19791752 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:18339130-23480799)x1 copy number loss See cases [RCV000141233] Chr22:18339130..23480799 [GRCh38]
Chr22:20279766..23822986 [GRCh37]
Chr22:18659766..22152986 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21(chr22:18929315-20325138)x3 copy number gain See cases [RCV000140932] Chr22:18929315..20325138 [GRCh38]
Chr22:18916828..20312661 [GRCh37]
Chr22:17296828..18692661 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21109830)x1 copy number loss See cases [RCV000140853] Chr22:18339130..21109830 [GRCh38]
Chr22:19035323..21464119 [GRCh37]
Chr22:17415323..19794119 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101210)x1 copy number loss See cases [RCV000140773] Chr22:18339130..21101210 [GRCh38]
Chr22:18999803..21455499 [GRCh37]
Chr22:17379803..19785499 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18929329-20324335)x1 copy number loss See cases [RCV000141995] Chr22:18929329..20324335 [GRCh38]
Chr22:18916842..20311858 [GRCh37]
Chr22:17296842..18691858 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18929329-20325138)x1 copy number loss See cases [RCV000141906] Chr22:18929329..20325138 [GRCh38]
Chr22:18916842..20312661 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20686726)x1 copy number loss See cases [RCV000141972] Chr22:18339130..20686726 [GRCh38]
Chr22:18916828..21041014 [GRCh37]
Chr22:17296828..19371014 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1 copy number loss See cases [RCV000141704] Chr22:18339130..21111370 [GRCh38]
Chr22:18916828..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18157962-21111370)x3 copy number gain See cases [RCV000141737] Chr22:18157962..21111370 [GRCh38]
Chr22:18640729..21465659 [GRCh37]
Chr22:17020729..19795659 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20980781)x1 copy number loss See cases [RCV000141782] Chr22:18339130..20980781 [GRCh38]
Chr22:20277314..21335070 [GRCh37]
Chr22:18657314..19665070 [NCBI36]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.21(chr22:18339130-21450597)x1 copy number loss See cases [RCV000141677] Chr22:18339130..21450597 [GRCh38]
Chr22:18916842..21804886 [GRCh37]
Chr22:17296842..20134886 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18166089-21111373)x1 copy number loss See cases [RCV000142253] Chr22:18166089..21111373 [GRCh38]
Chr22:18648856..21465662 [GRCh37]
Chr22:17028856..19795662 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1 copy number loss See cases [RCV000142073] Chr22:18339130..21111370 [GRCh38]
Chr22:19024656..21465659 [GRCh37]
Chr22:17404656..19795659 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18161474-21111373)x1 copy number loss See cases [RCV000142151] Chr22:18161474..21111373 [GRCh38]
Chr22:18644241..21465662 [GRCh37]
Chr22:17024241..19795662 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18389245-21109830)x1 copy number loss See cases [RCV000142988] Chr22:18389245..21109830 [GRCh38]
Chr22:20659547..21464119 [GRCh37]
Chr22:18989547..19794119 [NCBI36]
Chr22:22q11.21		 likely pathogenic|uncertain significance
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1 copy number loss See cases [RCV000142546] Chr22:18339130..20343532 [GRCh38]
Chr22:18919942..20659606 [GRCh37]
Chr22:17299942..18989606 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18389245-21151128)x1 copy number loss See cases [RCV000142670] Chr22:18389245..21151128 [GRCh38]
Chr22:20659547..21505417 [GRCh37]
Chr22:18989547..19835417 [NCBI36]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.21(chr22:18178957-21454720)x1 copy number loss See cases [RCV000142783] Chr22:18178957..21454720 [GRCh38]
Chr22:18661724..21809009 [GRCh37]
Chr22:17041724..20139009 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21307146)x1 copy number loss See cases [RCV000142734] Chr22:18339130..21307146 [GRCh38]
Chr22:18765085..21661435 [GRCh37]
Chr22:17145085..19991435 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21447315)x3 copy number gain See cases [RCV000142641] Chr22:18339130..21447315 [GRCh38]
Chr22:18919942..21801604 [GRCh37]
Chr22:17299942..20131604 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1 copy number loss See cases [RCV000143362] Chr22:18339130..21111373 [GRCh38]
Chr22:18916827..21465662 [GRCh37]
Chr22:17296827..19795662 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x3 copy number gain See cases [RCV000143391] Chr22:18339130..21111370 [GRCh38]
Chr22:18916828..21465659 [GRCh37]
Chr22:17296828..19795659 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1 copy number loss See cases [RCV000143442] Chr22:18339130..21111373 [GRCh38]
Chr22:18970561..21465662 [GRCh37]
Chr22:17350561..19795662 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1 copy number loss See cases [RCV000143225] Chr22:18339130..21111373 [GRCh38]
Chr22:18916842..21465662 [GRCh37]
Chr22:17296842..19795662 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1 copy number loss See cases [RCV000143293] Chr22:18339130..21111370 [GRCh38]
Chr22:18876630..21465659 [GRCh37]
Chr22:17256630..19795659 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x3 copy number gain See cases [RCV000143229] Chr22:18339130..21111370 [GRCh38]
Chr22:18916842..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1 copy number loss See cases [RCV000143234] Chr22:18339130..21111370 [GRCh38]
Chr22:18916842..21465659 [GRCh37]
Chr22:17296842..19795659 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1 copy number loss See cases [RCV000143126] Chr22:18339130..21111373 [GRCh38]
Chr22:18916828..21465662 [GRCh37]
Chr22:17296828..19795662 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20671425)x1 copy number loss See cases [RCV000148086] Chr22:18339130..20671425 [GRCh38]
Chr22:18706001..21025713 [GRCh37]
Chr22:17086001..19355713 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 copy number gain See cases [RCV000148047] Chr22:18339130..21207225 [GRCh38]
Chr22:18919942..21561514 [GRCh37]
Chr22:17299942..19891514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18929329-20325138)x3 copy number gain See cases [RCV000143506] Chr22:18929329..20325138 [GRCh38]
Chr22:18916842..20312661 [GRCh37]
Chr22:17296842..18692661 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1 copy number loss See cases [RCV000148287] Chr22:18339130..20343532 [GRCh38]
Chr22:18706001..20659606 [GRCh37]
Chr22:17086001..18989606 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21151128)x3 copy number gain See cases [RCV000148257] Chr22:18178957..21151128 [GRCh38]
Chr22:18661724..21505417 [GRCh37]
Chr22:17041724..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3 copy number gain See cases [RCV000148102] Chr22:18339130..21454720 [GRCh38]
Chr22:18919942..21809009 [GRCh37]
Chr22:17299942..20139009 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3 copy number gain See cases [RCV000148103] Chr22:18339130..21151128 [GRCh38]
Chr22:18919942..21505417 [GRCh37]
Chr22:17299942..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss See cases [RCV000148104] Chr22:18339130..21151128 [GRCh38]
Chr22:18919942..21505417 [GRCh37]
Chr22:17299942..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 copy number gain See cases [RCV000148206] Chr22:18339130..21086225 [GRCh38]
Chr22:18919942..21440514 [GRCh37]
Chr22:17299942..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x1 copy number loss See cases [RCV000148160] Chr22:18339130..21207225 [GRCh38]
Chr22:18919942..21561514 [GRCh37]
Chr22:17299942..19891514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18932429-20324240)x1 copy number loss See cases [RCV000148168] Chr22:18932429..20324240 [GRCh38]
Chr22:18919942..20311763 [GRCh37]
Chr22:17299942..18691763 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 copy number loss See cases [RCV000148136] Chr22:18339130..21086225 [GRCh38]
Chr22:18919942..21440514 [GRCh37]
Chr22:17299942..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21151128)x1 copy number loss See cases [RCV000148140] Chr22:18178957..21151128 [GRCh38]
Chr22:18661724..21505417 [GRCh37]
Chr22:17041724..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18145252-21151128)x1 copy number loss See cases [RCV000148178] Chr22:18145252..21151128 [GRCh38]
Chr22:18628019..21505417 [GRCh37]
Chr22:17008019..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21207225)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(chr22:18389245-21207225)x1 copy number loss See cases [RCV000050893] Chr22:18389245..21207225 [GRCh38]
Chr22:20659547..21561514 [GRCh37]
Chr22:18989547..19891514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 copy number gain See cases [RCV000051944] Chr22:18339130..21207225 [GRCh38]
Chr22:20402633..21561514 [GRCh37]
Chr22:18782633..19891514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18894339-21440514)x1 copy number loss See cases [RCV000240142] Chr22:18894339..21440514 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18894339-21032422)x3 copy number gain See cases [RCV000240118] Chr22:18894339..21032422 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18894339-20255154)x1 copy number loss See cases [RCV000240154] Chr22:18894339..20255154 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18900442-21440514)x1 copy number loss See cases [RCV000240087] Chr22:18900442..21440514 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:17012935-21431054)x4 copy number gain See cases [RCV000258792] Chr22:17012935..21431054 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18919579-21460595)x1 copy number loss See cases [RCV000258811] Chr22:18919579..21460595 [GRCh37]
Chr22:22q11.21		 pathogenic|likely pathogenic
GRCh37/hg19 22q11.21(chr22:18886915-20278471)x3 copy number gain See cases [RCV000515585] Chr22:18886915..20278471 [GRCh37]
Chr22:22q11.21		 pathogenic
Single allele duplication Autism spectrum disorder [RCV000225609] Chr22:18874965..21028946 [GRCh37]
Chr22:22q11.21		 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(chr22:18661724-21025713)x3 copy number gain See cases [RCV000239914] Chr22:18661724..21025713 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18650664-21440514)x3 copy number gain See cases [RCV000240570] Chr22:18650664..21440514 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3 copy number gain See cases [RCV000240348] Chr22:16054691..27296513 [GRCh37]
Chr22:22q11.1-12.1		 pathogenic
GRCh37/hg19 22q11.1-11.22(chr22:17264511-23238029)x3 copy number gain See cases [RCV000240483] Chr22:17264511..23238029 [GRCh37]
Chr22:22q11.1-11.22		 pathogenic
GRCh37/hg19 22q11.21(chr22:19023801-21440514)x1 copy number loss See cases [RCV000240303] Chr22:19023801..21440514 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-20311810) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV003319586] Chr22:18916842..20311810 [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(chr22:18894835-20311763) copy number loss Astigmatism [RCV000626527] Chr22:18894835..20311763 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18900000-20500000) copy number gain Hypertelorism [RCV000626526] Chr22:18900000..20500000 [GRCh37]
Chr22:22q11.21		 uncertain significance
Single allele deletion 22q11.2 deletion syndrome [RCV003221321] Chr22:18274663..21110254 [GRCh38]
Chr22:22q11.21		 pathogenic
NM_022727.6(TRMT2A):c.556C>T (p.Arg186Trp) single nucleotide variant not specified [RCV004268527] Chr22:20116081 [GRCh38]
Chr22:20103604 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18640729-21465659)x3 copy number gain See cases [RCV000449438] Chr22:18640729..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21800471)x1 copy number loss See cases [RCV000449444] Chr22:18916842..21800471 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:19024656-21798907)x1 copy number loss See cases [RCV000449418] Chr22:19024656..21798907 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-20716903)x4 copy number gain See cases [RCV000449232] Chr22:18916842..20716903 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20311858)x3 copy number gain See cases [RCV000446787] Chr22:16888899..20311858 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21465661)x1 copy number loss See cases [RCV000446325] Chr22:18916842..21465661 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-20716903)x1 copy number loss See cases [RCV000446341] Chr22:18916842..20716903 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18970561-21465659)x3 copy number gain See cases [RCV000446476] Chr22:18970561..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21465659)x3 copy number gain See cases [RCV000447318] Chr22:18644790..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18917047-21465659)x1 copy number loss See cases [RCV000446495] Chr22:18917047..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18894339-21440455)x3 copy number gain See cases [RCV000446626] Chr22:18894339..21440455 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21465662)x1 copy number loss See cases [RCV000446673] Chr22:18648866..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21915509)x1 copy number loss See cases [RCV000447211] Chr22:18644790..21915509 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21465659)x1 copy number loss See cases [RCV000446125] Chr22:18916842..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:19478208-20168230)x1 copy number loss See cases [RCV000446507] Chr22:19478208..20168230 [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(chr22:18916842-20312661)x3 copy number gain See cases [RCV000446449] Chr22:18916842..20312661 [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(chr22:18644772-21041014)x3 copy number gain See cases [RCV000446741] Chr22:18644772..21041014 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21800471)x1 copy number loss See cases [RCV000446545] Chr22:18644790..21800471 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21798907)x1 copy number loss See cases [RCV000447063] Chr22:18648866..21798907 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18650664-21440455)x1 copy number loss See cases [RCV000446173] Chr22:18650664..21440455 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18645353-21465662)x1 copy number loss See cases [RCV000447176] Chr22:18645353..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21798907)x1 copy number loss See cases [RCV000447508] Chr22:18644790..21798907 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21465659)x1 copy number loss See cases [RCV000446944] Chr22:18648866..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21465659)x3 copy number gain See cases [RCV000445951] Chr22:18648866..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21915509)x1 copy number loss See cases [RCV000445962] Chr22:18916842..21915509 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21798907)x1 copy number loss See cases [RCV000445855] Chr22:18916842..21798907 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21465659)x3 copy number gain See cases [RCV000448486] Chr22:18916842..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18637139-20289862) copy number gain Abnormal esophagus morphology [RCV000416656] Chr22:18637139..20289862 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21(chr22:18631979-21465659)x3 copy number gain See cases [RCV000448925] Chr22:18631979..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21800797)x1 copy number loss See cases [RCV000448538] Chr22:18648866..21800797 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21465662)x3 copy number gain See cases [RCV000448166] Chr22:18916842..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916827-21465662)x1 copy number loss See cases [RCV000447793] Chr22:18916827..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20716903)x1 copy number loss See cases [RCV000448331] Chr22:16888899..20716903 [GRCh37]
Chr22:22q11.1-11.21		 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
GRCh37/hg19 22q11.21(chr22:18650664-21440455)x3 copy number gain See cases [RCV000448770] Chr22:18650664..21440455 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.1-11.23(chr22:16888899-23723805)x3 copy number gain See cases [RCV000448224] Chr22:16888899..23723805 [GRCh37]
Chr22:22q11.1-11.23		 pathogenic
GRCh37/hg19 22q11.21(chr22:18894339-20255110)x1 copy number loss See cases [RCV000447750] Chr22:18894339..20255110 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-20312661)x1 copy number loss See cases [RCV000447847] Chr22:18916842..20312661 [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 22q11.1-11.21(chr22:16888899-20311858)x3 copy number gain See cases [RCV000510690] Chr22:16888899..20311858 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916828-20312661)x1 copy number loss See cases [RCV000510556] Chr22:18916828..20312661 [GRCh37]
Chr22:22q11.21		 pathogenic
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(chr22:18916828-21049800)x1 copy number loss See cases [RCV000510907] Chr22:18916828..21049800 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18650803-21460220) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767593] Chr22:18650803..21460220 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18900755-21075586) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767598] Chr22:18900755..21075586 [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(chr22:18894835-21505417) copy number loss Ear malformation [RCV000626528] Chr22:18894835..21505417 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916827-21050078)x3 copy number gain not provided [RCV000684505] Chr22:18916827..21050078 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18970560-21465662)x3 copy number gain not provided [RCV000684508] Chr22:18970560..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18935463-21465659)x1 copy number loss not provided [RCV000684509] Chr22:18935463..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21465662)x1 copy number loss not provided [RCV000684510] Chr22:18916842..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916827-21465659)x3 copy number gain not provided [RCV000684511] Chr22:18916827..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18645353-21465659)x3 copy number gain not provided [RCV000684512] Chr22:18645353..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18644542-21465659)x1 copy number loss not provided [RCV000684513] Chr22:18644542..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21798907)x1 copy number loss not provided [RCV000684514] Chr22:18916842..21798907 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21800797)x1 copy number loss not provided [RCV000684516] Chr22:18648866..21800797 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18626108-21800797)x1 copy number loss not provided [RCV000684517] Chr22:18626108..21800797 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21915509)x1 copy number loss not provided [RCV000684519] Chr22:18644790..21915509 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20312661)x3 copy number gain not provided [RCV000684521] Chr22:16888899..20312661 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-20310938)x1 copy number loss not provided [RCV000684495] Chr22:18916842..20310938 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-20311858)x3 copy number gain not provided [RCV000684496] Chr22:18916842..20311858 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18649189-20311858)x3 copy number gain not provided [RCV000684500] Chr22:18649189..20311858 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-20716903)x1 copy number loss not provided [RCV000684502] Chr22:18916842..20716903 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-20767095)x1 copy number loss not provided [RCV000684503] Chr22:18916842..20767095 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:17055733-20312661)x3 copy number gain not provided [RCV000845704] Chr22:17055733..20312661 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
Single allele deletion Abnormal bleeding [RCV000852267] Chr22:19709400..21142058 [GRCh37]
Chr22:22q11.21		 likely 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)_(20346734_?)del deletion Schizophrenia [RCV000754246] Chr22:18880919..20346734 [GRCh38]
Chr22:22q11.21		 pathogenic
NC_000022.11:g.(?_18880919)_(21123588_?)del deletion Schizophrenia [RCV000754247] Chr22:18880919..21123588 [GRCh38]
Chr22:22q11.21		 pathogenic
Single allele duplication Autism [RCV000754248] Chr22:18904453..20324329 [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.(?_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(chr22:18889490-20312668)x1 copy number loss not provided [RCV000741742] Chr22:18889490..20312668 [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 22q11.21(chr22:19758228-20761112)x1 copy number loss not provided [RCV000741753] Chr22:19758228..20761112 [GRCh37]
Chr22:22q11.21		 benign
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 22q11.1-11.21(chr22:16114244-20737903)x3 copy number gain not provided [RCV000741690] Chr22:16114244..20737903 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
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(chr22:18916842-21033371)x1 copy number loss not provided [RCV001007165] Chr22:18916842..21033371 [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(chr22:18648855-21461017)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(chr22:18892575-20308800) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767597] Chr22:18892575..20308800 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18912403-21431174) copy number loss DiGeorge syndrome [RCV000767629] Chr22:18912403..21431174 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18892575-21460220) 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(chr22:18893888-21481925)x1 copy number loss not provided [RCV003312569] Chr22:18893888..21481925 [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 22q11.1-11.21(chr22:17072086-20130474) copy number gain not provided [RCV000767814] Chr22:17072086..20130474 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
Single allele duplication Neurodevelopmental disorder [RCV000787416] Chr22:18890264..21464056 [GRCh37]
Chr22:22q11.21		 likely 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(chr22:18609712-21408430) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767590] Chr22:18609712..21408430 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18611223-21408430) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767591] Chr22:18611223..21408430 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18650745-21460220) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767592] Chr22:18650745..21460220 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18892575-21460220) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767596] Chr22:18892575..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(chr22:18892575-21460220) copy number loss DiGeorge syndrome [RCV000767692] Chr22:18892575..21460220 [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(chr22:18923898-21431174) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767630] Chr22:18923898..21431174 [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(chr22:18918741-20311922) copy number loss DiGeorge syndrome [RCV000767628] Chr22:18918741..20311922 [GRCh37]
Chr22:22q11.21		 pathogenic
Single allele deletion Chromosome 22q11.2 deletion syndrome, distal [RCV003232577] Chr22:18985739..21081116 [GRCh38]
Chr22:22q11.21		 pathogenic
Single allele duplication Chromosome 22q11.2 microduplication syndrome [RCV003232578] Chr22:18985739..21081116 [GRCh38]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:17289827-20311922) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767815] Chr22:17289827..20311922 [GRCh37]
Chr22:22q11.1-11.21		 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(chr22:18912231-21465672)x1 copy number loss Velocardiofacial syndrome [RCV000788056] Chr22:18912231..21465672 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18922151-21449911)x1 copy number loss Velocardiofacial syndrome [RCV000788058] Chr22:18922151..21449911 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916827-20311858)x1 copy number loss not provided [RCV000849445] Chr22:18916827..20311858 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18937380-21459713)x3 copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000788062] Chr22:18937380..21459713 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18889490-21917190)x1 copy number loss See cases [RCV000790601] Chr22:18889490..21917190 [GRCh37]
Chr22:22q11.21		 pathogenic
Single allele duplication Neurodevelopmental disorder [RCV000787407] Chr22:17041669..20247250 [GRCh37]
Chr22:22q11.1-11.21		 likely pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787412] Chr22:18890264..21540347 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18919477-21800471)x1 copy number loss Velocardiofacial syndrome [RCV000788060] Chr22:18919477..21800471 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:19819477-21464764)x3 copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000788064] Chr22:19819477..21464764 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18886915-21463730)x1 copy number loss See cases [RCV001194533] Chr22:18886915..21463730 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-20311858)x1 copy number loss not provided [RCV000846352] Chr22:18916842..20311858 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20125005)x1 copy number loss not provided [RCV001007156] Chr22:16888899..20125005 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20730144)x1 copy number loss not provided [RCV001007159] Chr22:16888899..20730144 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
Single allele deletion DiGeorge syndrome [RCV001003853] Chr22:18475385..23764120 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20312661)x3 copy number gain not provided [RCV000846815] Chr22:16888899..20312661 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
Single allele deletion Deep venous thrombosis [RCV000852271] Chr22:19710418..21142058 [GRCh37]
Chr22:22q11.21		 likely 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
NC_000022.11:g.18948676_21110520dup duplication Chromosome 22q11.2 microduplication syndrome [RCV003313910] Chr22:18948676..21110520 [GRCh38]
Chr22:22q11.21		 pathogenic
NM_022727.6(TRMT2A):c.1621C>T (p.Arg541Trp) single nucleotide variant not specified [RCV004286456] Chr22:20112936 [GRCh38]
Chr22:20100459 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:19647905-21153690)x1 copy number loss not provided [RCV002472681] Chr22:19647905..21153690 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916843-20311858)x1 copy number loss not provided [RCV002473556] Chr22:18916843..20311858 [GRCh37]
Chr22:22q11.21		 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 22q11.1-12.1(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(chr22:18889571-21464697)x1 copy number loss not provided [RCV001537922] Chr22:18889571..21464697 [GRCh37]
Chr22:22q11.21		 pathogenic
Single allele deletion Inherited Immunodeficiency Diseases [RCV001027643] Chr22:18789965..21591197 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21075592)x1 copy number loss not provided [RCV001007166] Chr22:18916842..21075592 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18892575-20306993)x3 copy number gain See cases [RCV001007434] Chr22:18892575..20306993 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18886915-21463730)x1 copy number loss See cases [RCV001194516] Chr22:18886915..21463730 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18912403-21431174) copy number loss DiGeorge syndrome [RCV001195119] Chr22:18912403..21431174 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(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
GRCh37/hg19 22q11.21(chr22:18970561-21040836)x3 copy number gain not provided [RCV001007167] Chr22:18970561..21040836 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18841374-21465101)x3 copy number gain not provided [RCV001537919] Chr22:18841374..21465101 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18889977-21463189)x3 copy number gain not provided [RCV001537921] Chr22:18889977..21463189 [GRCh37]
Chr22:22q11.21		 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(chr22:18661699-21457610)x1 copy number loss See cases [RCV001263054] Chr22:18661699..21457610 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:19024656-21465662)x3 copy number gain not provided [RCV001259978] Chr22:19024656..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21011216)x1 copy number loss not provided [RCV001259980] Chr22:18916842..21011216 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21465659)x4 copy number gain not provided [RCV001259979] Chr22:18648866..21465659 [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 22q11.21-11.22(chr22:19035089-22672555)x3 copy number gain not provided [RCV001259984] Chr22:19035089..22672555 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NC_000022.10:g.(?_18900688)_(21351637_?)del deletion DiGeorge syndrome [RCV001383366]|not provided [RCV001871994] Chr22:18900688..21351637 [GRCh37]
Chr22:22q11.21		 pathogenic|no classifications from unflagged records
GRCh37/hg19 22q11.21(chr22:18909044-21464119) copy number gain Cryptorchidism [RCV001291958] Chr22:18909044..21464119 [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
Single allele deletion DiGeorge syndrome [RCV001391675] Chr22:18893882..21563420 [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
GRCh37/hg19 22q11.21(chr22:18889950-21466053)x1 copy number loss not provided [RCV001270642] Chr22:18889950..21466053 [GRCh37]
Chr22:22q11.21		 pathogenic
Single allele deletion DiGeorge syndrome [RCV001391672] Chr22:18893882..21571027 [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(chr22:18718028-21326012)x1 copy number loss See cases [RCV002246178] Chr22:18718028..21326012 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:19036286-21208284)x1 copy number loss Schizophrenia [RCV001801223] Chr22:19036286..21208284 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18873001-21469900) copy number gain Cerebral palsy [RCV001796564] Chr22:18873001..21469900 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18884714-21483289)x1 copy number loss See cases [RCV001780077] Chr22:18884714..21483289 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18660135-21737597)x1 copy number loss Chromosome 22q11.2 deletion syndrome, distal [RCV001801214] Chr22:18660135..21737597 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21798907) copy number loss DiGeorge syndrome [RCV002280729] Chr22:18916842..21798907 [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(chr22:18645353-21800797) copy number loss DiGeorge syndrome [RCV002280727] Chr22:18645353..21800797 [GRCh37]
Chr22:22q11.21		 pathogenic
NC_000022.10:g.(?_18900688)_(21351637_?)dup duplication DiGeorge syndrome [RCV001952526] Chr22:18900688..21351637 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18884514-21484289)x1 copy number loss See cases [RCV002246175] Chr22:18884514..21484289 [GRCh37]
Chr22:22q11.21		 pathogenic
NC_000022.11:g.18948676_21110520del deletion Velocardiofacial syndrome [RCV003318485] Chr22:18948676..21110520 [GRCh38]
Chr22:22q11.21		 pathogenic
Single allele deletion Velocardiofacial syndrome [RCV002247726] Chr22:18948677..21110520 [GRCh38]
Chr22:22q11.21		 pathogenic
NM_022727.6(TRMT2A):c.44G>A (p.Ser15Asn) single nucleotide variant not specified [RCV004330078] Chr22:20116593 [GRCh38]
Chr22:20104116 [GRCh37]
Chr22:22q11.21		 uncertain significance
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(chr22:18893888-21414817)x1 copy number loss not provided [RCV002276112] Chr22:18893888..21414817 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21465659)x1 copy number loss See cases [RCV002292204] Chr22:18916842..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18644542-21465659)x1 copy number loss See cases [RCV002287573] Chr22:18644542..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(chr22:18893888-21414817)x3 copy number gain not provided [RCV002293073] Chr22:18893888..21414817 [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(chr22:18648866-21798907) copy number loss DiGeorge syndrome [RCV002280731] Chr22:18648866..21798907 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21798907) copy number loss DiGeorge syndrome [RCV002280728] Chr22:18644790..21798907 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18917047-21465659) 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(chr22:18916843-21798907)x3 copy number gain not provided [RCV002472508] Chr22:18916843..21798907 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916843-21075592)x1 copy number loss not provided [RCV002474582] Chr22:18916843..21075592 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916843-21465659)x1 copy number loss not provided [RCV002474586] Chr22:18916843..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916843-21915509)x1 copy number loss not provided [RCV002473950] Chr22:18916843..21915509 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18644791-21041014)x1 copy number loss not provided [RCV002474720] Chr22:18644791..21041014 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18644543-21800797)x1 copy number loss not provided [RCV002473959] Chr22:18644543..21800797 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18648867-20311858)x3 copy number gain not provided [RCV002472883] Chr22:18648867..20311858 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:19336598-21208828)x1 copy number loss not provided [RCV002474524] Chr22:19336598..21208828 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:19046677-21465662)x1 copy number loss not provided [RCV002473738] Chr22:19046677..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18648867-21465659)x1 copy number loss not provided [RCV002472511] Chr22:18648867..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916828-21800797)x1 copy number loss not provided [RCV002473925] Chr22:18916828..21800797 [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
Single allele deletion See cases [RCV003154622] Chr22:18893886..21386103 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916843-21804563)x3 copy number gain not provided [RCV002472525] Chr22:18916843..21804563 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916843-21800471)x1 copy number loss not provided [RCV002472532] Chr22:18916843..21800471 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916843-21033401)x1 copy number loss not provided [RCV002472535] Chr22:18916843..21033401 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18834445-21414817)x1 copy number loss not provided [RCV002512210] Chr22:18834445..21414817 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18894078-21414817)x1 copy number loss not provided [RCV002512212] Chr22:18894078..21414817 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_022727.6(TRMT2A):c.574G>A (p.Glu192Lys) single nucleotide variant not specified [RCV004136133] Chr22:20116063 [GRCh38]
Chr22:20103586 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022727.6(TRMT2A):c.284G>A (p.Arg95His) single nucleotide variant not specified [RCV004182380] Chr22:20116353 [GRCh38]
Chr22:20103876 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022727.6(TRMT2A):c.1125G>T (p.Lys375Asn) single nucleotide variant not specified [RCV004200478] Chr22:20114682 [GRCh38]
Chr22:20102205 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022727.6(TRMT2A):c.488C>T (p.Pro163Leu) single nucleotide variant not specified [RCV004238542] Chr22:20116149 [GRCh38]
Chr22:20103672 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18893888-21570386)x1 copy number loss not provided [RCV002512211] Chr22:18893888..21570386 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_022727.6(TRMT2A):c.334G>A (p.Ala112Thr) single nucleotide variant not specified [RCV004198374] Chr22:20116303 [GRCh38]
Chr22:20103826 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022727.6(TRMT2A):c.1724C>T (p.Pro575Leu) single nucleotide variant not specified [RCV004138866] Chr22:20112717 [GRCh38]
Chr22:20100240 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022727.6(TRMT2A):c.722A>G (p.Asn241Ser) single nucleotide variant not specified [RCV004126783] Chr22:20115434 [GRCh38]
Chr22:20102957 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022727.6(TRMT2A):c.1240A>G (p.Thr414Ala) single nucleotide variant not specified [RCV004081363] Chr22:20113802 [GRCh38]
Chr22:20101325 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022727.6(TRMT2A):c.656A>G (p.Lys219Arg) single nucleotide variant not specified [RCV004138683] Chr22:20115724 [GRCh38]
Chr22:20103247 [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_022727.6(TRMT2A):c.524T>C (p.Leu175Pro) single nucleotide variant not specified [RCV004113030] Chr22:20116113 [GRCh38]
Chr22:20103636 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022727.6(TRMT2A):c.380G>T (p.Arg127Leu) single nucleotide variant not specified [RCV004172193] Chr22:20116257 [GRCh38]
Chr22:20103780 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022727.6(TRMT2A):c.1160T>C (p.Val387Ala) single nucleotide variant not specified [RCV004143829] Chr22:20114647 [GRCh38]
Chr22:20102170 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022727.6(TRMT2A):c.889C>T (p.Arg297Trp) single nucleotide variant not specified [RCV004163276] Chr22:20115267 [GRCh38]
Chr22:20102790 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022727.6(TRMT2A):c.1022A>T (p.Glu341Val) single nucleotide variant not specified [RCV004144397] Chr22:20114860 [GRCh38]
Chr22:20102383 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022727.6(TRMT2A):c.1862C>T (p.Thr621Ile) single nucleotide variant not specified [RCV004184333] Chr22:20112579 [GRCh38]
Chr22:20100102 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022727.6(TRMT2A):c.1208G>A (p.Arg403Gln) single nucleotide variant not specified [RCV004209777] Chr22:20114599 [GRCh38]
Chr22:20102122 [GRCh37]
Chr22:22q11.21		 likely benign
NM_022727.6(TRMT2A):c.317T>C (p.Phe106Ser) single nucleotide variant not specified [RCV004229402] Chr22:20116320 [GRCh38]
Chr22:20103843 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022727.6(TRMT2A):c.1573C>T (p.Arg525Trp) single nucleotide variant not specified [RCV004231405] Chr22:20112984 [GRCh38]
Chr22:20100507 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022727.6(TRMT2A):c.745G>A (p.Val249Ile) single nucleotide variant not specified [RCV004078425] Chr22:20115411 [GRCh38]
Chr22:20102934 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022727.6(TRMT2A):c.382G>A (p.Val128Ile) single nucleotide variant not specified [RCV004202217] Chr22:20116255 [GRCh38]
Chr22:20103778 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022727.6(TRMT2A):c.835G>A (p.Val279Met) single nucleotide variant not specified [RCV004236297] Chr22:20115321 [GRCh38]
Chr22:20102844 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022727.6(TRMT2A):c.685G>A (p.Gly229Arg) single nucleotide variant not specified [RCV004093711] Chr22:20115695 [GRCh38]
Chr22:20103218 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022727.6(TRMT2A):c.955C>T (p.Arg319Cys) single nucleotide variant not specified [RCV004075321] Chr22:20115015 [GRCh38]
Chr22:20102538 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022727.6(TRMT2A):c.515T>C (p.Val172Ala) single nucleotide variant not specified [RCV004251069] Chr22:20116122 [GRCh38]
Chr22:20103645 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022727.6(TRMT2A):c.682G>A (p.Glu228Lys) single nucleotide variant not specified [RCV004253134] Chr22:20115698 [GRCh38]
Chr22:20103221 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022727.6(TRMT2A):c.1739G>A (p.Cys580Tyr) single nucleotide variant not specified [RCV004272533] Chr22:20112702 [GRCh38]
Chr22:20100225 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.21(chr22:18985739-21081116)x1 copy number loss DiGeorge syndrome [RCV003327705] Chr22:18985739..21081116 [GRCh38]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18893838-20307561)x1 copy number loss DiGeorge syndrome [RCV003329526] Chr22:18893838..20307561 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18893838-21416074)x3 copy number gain Chromosome 22q11.2 deletion syndrome, distal [RCV003329514]|Velocardiofacial syndrome [RCV003329513] Chr22:18893838..21416074 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18893838-20508931)x3 copy number gain Chromosome 22q11.2 deletion syndrome, distal [RCV003329495] Chr22:18893838..20508931 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_022727.6(TRMT2A):c.1337T>G (p.Ile446Ser) single nucleotide variant not specified [RCV004360499] Chr22:20113705 [GRCh38]
Chr22:20101228 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022727.6(TRMT2A):c.964C>T (p.Arg322Cys) single nucleotide variant not specified [RCV004355007] Chr22:20115006 [GRCh38]
Chr22:20102529 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022727.6(TRMT2A):c.683A>C (p.Glu228Ala) single nucleotide variant not specified [RCV004356560] Chr22:20115697 [GRCh38]
Chr22:20103220 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18893888-21563415)x1 copy number loss not provided [RCV003457105] Chr22:18893888..21563415 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:17832142-20945625)x1 copy number loss not provided [RCV003483389] Chr22:17832142..20945625 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916843-20716903)x3 copy number gain not provided [RCV003485235] Chr22:18916843..20716903 [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
NM_022727.6(TRMT2A):c.339T>C (p.Phe113=) single nucleotide variant not provided [RCV003431635] Chr22:20116298 [GRCh38]
Chr22:20103821 [GRCh37]
Chr22:22q11.21		 likely benign
NM_001278639.2(RANBP1):c.243A>C (p.Ser81=) single nucleotide variant not provided [RCV003431636] Chr22:20116427 [GRCh38]
Chr22:20103950 [GRCh37]
Chr22:22q11.21		 likely benign
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(chr22:18919478-21927646)x3 copy number gain not provided [RCV004442756] Chr22:18919478..21927646 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888900-20312661)x3 copy number gain not provided [RCV004442760] Chr22:16888900..20312661 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18649190-21022258)x3 copy number gain See cases [RCV004442816] Chr22:18649190..21022258 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18649190-21800471)x3 copy number gain not provided [RCV004442843] Chr22:18649190..21800471 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18648856-21800471)x1 copy number loss See cases [RCV004442844] Chr22:18648856..21800471 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_022727.6(TRMT2A):c.1391C>T (p.Pro464Leu) single nucleotide variant not specified [RCV004468420] Chr22:20113473 [GRCh38]
Chr22:20100996 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022727.6(TRMT2A):c.1819C>A (p.Pro607Thr) single nucleotide variant not specified [RCV004468424] Chr22:20112622 [GRCh38]
Chr22:20100145 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022727.6(TRMT2A):c.206C>G (p.Thr69Ser) single nucleotide variant not specified [RCV004468425] Chr22:20116431 [GRCh38]
Chr22:20103954 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022727.6(TRMT2A):c.254G>C (p.Ser85Thr) single nucleotide variant not specified [RCV004468426] Chr22:20116383 [GRCh38]
Chr22:20103906 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022727.6(TRMT2A):c.296A>T (p.Gln99Leu) single nucleotide variant not specified [RCV004468427] Chr22:20116341 [GRCh38]
Chr22:20103864 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022727.6(TRMT2A):c.1373T>C (p.Ile458Thr) single nucleotide variant not specified [RCV004468418] Chr22:20113491 [GRCh38]
Chr22:20101014 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022727.6(TRMT2A):c.434G>A (p.Arg145Gln) single nucleotide variant not specified [RCV004468428] Chr22:20116203 [GRCh38]
Chr22:20103726 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022727.6(TRMT2A):c.1282G>A (p.Ala428Thr) single nucleotide variant not specified [RCV004468417] Chr22:20113760 [GRCh38]
Chr22:20101283 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022727.6(TRMT2A):c.175C>G (p.Leu59Val) single nucleotide variant not specified [RCV004468423] Chr22:20116462 [GRCh38]
Chr22:20103985 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022727.6(TRMT2A):c.952G>A (p.Val318Met) single nucleotide variant not specified [RCV004468432] Chr22:20115018 [GRCh38]
Chr22:20102541 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022727.6(TRMT2A):c.797A>G (p.Lys266Arg) single nucleotide variant not specified [RCV004468431] Chr22:20115359 [GRCh38]
Chr22:20102882 [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_022727.6(TRMT2A):c.1381G>A (p.Glu461Lys) single nucleotide variant not specified [RCV004468419] Chr22:20113483 [GRCh38]
Chr22:20101006 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022727.6(TRMT2A):c.1614C>G (p.Cys538Trp) single nucleotide variant not specified [RCV004468421] Chr22:20112943 [GRCh38]
Chr22:20100466 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022727.6(TRMT2A):c.983C>T (p.Ala328Val) single nucleotide variant not specified [RCV004468433] Chr22:20114987 [GRCh38]
Chr22:20102510 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.1-11.21(chr22:16849364-20311389)x3 copy number gain not provided [RCV004577503] Chr22:16849364..20311389 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18888685-21465668)x1 copy number loss not provided [RCV004577450] Chr22:18888685..21465668 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_022727.6(TRMT2A):c.1633G>A (p.Gly545Ser) single nucleotide variant not specified [RCV004468422] Chr22:20112924 [GRCh38]
Chr22:20100447 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022727.6(TRMT2A):c.686G>C (p.Gly229Ala) single nucleotide variant not specified [RCV004468430] Chr22:20115694 [GRCh38]
Chr22:20103217 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022727.6(TRMT2A):c.508G>A (p.Asp170Asn) single nucleotide variant not specified [RCV004684973] Chr22:20116129 [GRCh38]
Chr22:20103652 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022727.6(TRMT2A):c.1169A>G (p.Asp390Gly) single nucleotide variant not specified [RCV004684977] Chr22:20114638 [GRCh38]
Chr22:20102161 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022727.6(TRMT2A):c.986T>C (p.Ile329Thr) single nucleotide variant not specified [RCV004684978] Chr22:20114984 [GRCh38]
Chr22:20102507 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022727.6(TRMT2A):c.1823C>T (p.Thr608Ile) single nucleotide variant not specified [RCV004687709] Chr22:20112618 [GRCh38]
Chr22:20100141 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022727.6(TRMT2A):c.1837G>A (p.Asp613Asn) single nucleotide variant not specified [RCV004684974] Chr22:20112604 [GRCh38]
Chr22:20100127 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022727.6(TRMT2A):c.743G>C (p.Gly248Ala) single nucleotide variant not specified [RCV004684975] Chr22:20115413 [GRCh38]
Chr22:20102936 [GRCh37]
Chr22:22q11.21		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6975
Count of miRNA genes:1007
Interacting mature miRNAs:1274
Transcripts:ENST00000252136, ENST00000403707, ENST00000404751, ENST00000439169, ENST00000444256, ENST00000444845, ENST00000445045, ENST00000459644, ENST00000463710, ENST00000464535, ENST00000468917, ENST00000471040, ENST00000480339, ENST00000480460, ENST00000487378, ENST00000487668, ENST00000488335, ENST00000492988, ENST00000494641, ENST00000494820
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1581529BP71_HBlood pressure QTL 71 (human)20.001Blood pressurepulse pressure221109496637094966Human
2289428BW313_HBody weight QTL 313 (human)2.090.0015Body weightBMI221134428437344284Human

Markers in Region
G43633  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,099,271 - 20,099,398UniSTSGRCh37
Build 362218,479,271 - 18,479,398RGDNCBI36
Celera223,951,321 - 3,951,448RGD
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map22q11.2UniSTS
HuRef223,719,932 - 3,720,059UniSTS
RH78249  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,099,902 - 20,100,066UniSTSGRCh37
Build 362218,479,902 - 18,480,066RGDNCBI36
Celera223,951,952 - 3,952,116RGD
Cytogenetic Map22q11.21UniSTS
HuRef223,720,563 - 3,720,727UniSTS
GeneMap99-GB4 RH Map2217.11UniSTS
NCBI RH Map2212.4UniSTS
WI-16098  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,099,850 - 20,099,962UniSTSGRCh37
Build 362218,479,850 - 18,479,962RGDNCBI36
Celera223,951,900 - 3,952,012RGD
Cytogenetic Map22q11.21UniSTS
HuRef223,720,511 - 3,720,623UniSTS
GeneMap99-GB4 RH Map2217.99UniSTS
Whitehead-RH Map2217.3UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1950 465 2270 7305 6471 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001257994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001331039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_182984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC006547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI539558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC108251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI756672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX349507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX349795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA440188 (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
  CR456354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000252136   ⟹   ENSP00000252136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,111,875 - 20,117,226 (-)Ensembl
Ensembl Acc Id: ENST00000403707   ⟹   ENSP00000385807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,111,875 - 20,117,392 (-)Ensembl
Ensembl Acc Id: ENST00000404751   ⟹   ENSP00000384968
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,112,304 - 20,117,245 (-)Ensembl
Ensembl Acc Id: ENST00000439169   ⟹   ENSP00000395738
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,112,338 - 20,117,222 (-)Ensembl
Ensembl Acc Id: ENST00000444256   ⟹   ENSP00000392261
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,112,568 - 20,113,808 (-)Ensembl
Ensembl Acc Id: ENST00000444845   ⟹   ENSP00000397744
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,112,301 - 20,113,507 (-)Ensembl
Ensembl Acc Id: ENST00000445045   ⟹   ENSP00000393911
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,116,242 - 20,117,239 (-)Ensembl
Ensembl Acc Id: ENST00000459644
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,114,767 - 20,115,622 (-)Ensembl
Ensembl Acc Id: ENST00000463710
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,113,704 - 20,115,392 (-)Ensembl
Ensembl Acc Id: ENST00000464535
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,111,877 - 20,117,262 (-)Ensembl
Ensembl Acc Id: ENST00000468917
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,115,337 - 20,116,550 (-)Ensembl
Ensembl Acc Id: ENST00000471040
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,113,486 - 20,115,439 (-)Ensembl
Ensembl Acc Id: ENST00000480339
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,112,301 - 20,113,178 (-)Ensembl
Ensembl Acc Id: ENST00000480460
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,115,349 - 20,116,100 (-)Ensembl
Ensembl Acc Id: ENST00000487378
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,112,499 - 20,113,378 (-)Ensembl
Ensembl Acc Id: ENST00000487668
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,112,328 - 20,113,798 (-)Ensembl
Ensembl Acc Id: ENST00000488335
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,113,650 - 20,114,868 (-)Ensembl
Ensembl Acc Id: ENST00000492988
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,113,118 - 20,115,688 (-)Ensembl
Ensembl Acc Id: ENST00000494641
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,115,577 - 20,117,183 (-)Ensembl
Ensembl Acc Id: ENST00000494820
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,112,892 - 20,115,812 (-)Ensembl
RefSeq Acc Id: NM_001257994   ⟹   NP_001244923
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,111,875 - 20,117,226 (-)NCBI
GRCh372220,099,389 - 20,104,818 (-)NCBI
HuRef223,720,050 - 3,725,479 (-)NCBI
CHM1_12220,099,073 - 20,104,502 (-)NCBI
T2T-CHM13v2.02220,490,925 - 20,496,276 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001331039   ⟹   NP_001317968
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,111,875 - 20,117,226 (-)NCBI
T2T-CHM13v2.02220,490,925 - 20,496,276 (-)NCBI
Sequence:
RefSeq Acc Id: NM_022727   ⟹   NP_073564
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,111,875 - 20,117,226 (-)NCBI
GRCh372220,099,389 - 20,104,818 (-)NCBI
Build 362218,479,398 - 18,484,768 (-)NCBI Archive
Celera223,951,448 - 3,956,818 (-)RGD
HuRef223,720,050 - 3,725,479 (-)NCBI
CHM1_12220,099,073 - 20,104,502 (-)NCBI
T2T-CHM13v2.02220,490,925 - 20,496,276 (-)NCBI
Sequence:
RefSeq Acc Id: NM_182984   ⟹   NP_892029
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,111,875 - 20,117,226 (-)NCBI
GRCh372220,099,389 - 20,104,818 (-)NCBI
Build 362218,479,398 - 18,484,768 (-)NCBI Archive
Celera223,951,448 - 3,956,818 (-)RGD
HuRef223,720,050 - 3,725,479 (-)NCBI
CHM1_12220,099,073 - 20,104,502 (-)NCBI
T2T-CHM13v2.02220,490,925 - 20,496,276 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011530139   ⟹   XP_011528441
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,111,875 - 20,117,226 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011530142   ⟹   XP_011528444
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,111,875 - 20,115,593 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054325540   ⟹   XP_054181515
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02220,490,925 - 20,496,276 (-)NCBI
RefSeq Acc Id: XM_054325541   ⟹   XP_054181516
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02220,490,925 - 20,494,643 (-)NCBI
RefSeq Acc Id: NP_073564   ⟸   NM_022727
- Peptide Label: isoform a
- UniProtKB: Q96ME6 (UniProtKB/Swiss-Prot),   Q32P57 (UniProtKB/Swiss-Prot),   D3DX25 (UniProtKB/Swiss-Prot),   Q9H732 (UniProtKB/Swiss-Prot),   Q8IZ69 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_892029   ⟸   NM_182984
- Peptide Label: isoform a
- UniProtKB: Q96ME6 (UniProtKB/Swiss-Prot),   Q32P57 (UniProtKB/Swiss-Prot),   D3DX25 (UniProtKB/Swiss-Prot),   Q9H732 (UniProtKB/Swiss-Prot),   Q8IZ69 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001244923   ⟸   NM_001257994
- Peptide Label: isoform b
- UniProtKB: Q8IZ69 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011528441   ⟸   XM_011530139
- Peptide Label: isoform X1
- UniProtKB: F2Z2W7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011528444   ⟸   XM_011530142
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001317968   ⟸   NM_001331039
- Peptide Label: isoform c
- UniProtKB: F2Z2W7 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000252136   ⟸   ENST00000252136
Ensembl Acc Id: ENSP00000395738   ⟸   ENST00000439169
Ensembl Acc Id: ENSP00000385807   ⟸   ENST00000403707
Ensembl Acc Id: ENSP00000384968   ⟸   ENST00000404751
Ensembl Acc Id: ENSP00000392261   ⟸   ENST00000444256
Ensembl Acc Id: ENSP00000397744   ⟸   ENST00000444845
Ensembl Acc Id: ENSP00000393911   ⟸   ENST00000445045
RefSeq Acc Id: XP_054181515   ⟸   XM_054325540
- Peptide Label: isoform X1
- UniProtKB: F2Z2W7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054181516   ⟸   XM_054325541
- Peptide Label: isoform X2
Protein Domains
RRM

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8IZ69-F1-model_v2 AlphaFold Q8IZ69 1-625 view protein structure

Promoters
RGD ID:6800438
Promoter ID:HG_KWN:41582
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000318346,   OTTHUMT00000318347,   OTTHUMT00000318348,   OTTHUMT00000318349,   OTTHUMT00000318390
Position:
Human AssemblyChrPosition (strand)Source
Build 362218,480,446 - 18,482,157 (-)MPROMDB
RGD ID:6800437
Promoter ID:HG_KWN:41583
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:OTTHUMT00000318295,   OTTHUMT00000318296,   OTTHUMT00000318297,   OTTHUMT00000318298,   OTTHUMT00000318317,   OTTHUMT00000318318,   OTTHUMT00000318350,   OTTHUMT00000319847
Position:
Human AssemblyChrPosition (strand)Source
Build 362218,482,656 - 18,483,842 (-)MPROMDB
RGD ID:6800038
Promoter ID:HG_KWN:41585
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000252136,   ENST00000402752,   ENST00000403707,   ENST00000405037,   NM_002882,   OTTHUMT00000318168,   OTTHUMT00000318252,   OTTHUMT00000318253,   OTTHUMT00000318488,   OTTHUMT00000318489,   OTTHUMT00000318490,   OTTHUMT00000318491,   OTTHUMT00000318497,   OTTHUMT00000319846,   OTTHUMT00000319935,   OTTHUMT00000319936,   OTTHUMT00000319937,   UC002ZRM.1,   UC002ZRN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362218,484,106 - 18,486,332 (-)MPROMDB
RGD ID:13603262
Promoter ID:EPDNEW_H27815
Type:initiation region
Name:TRMT2A_2
Description:tRNA methyltransferase 2 homolog A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27816  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,116,988 - 20,117,048EPDNEW
RGD ID:13603266
Promoter ID:EPDNEW_H27816
Type:initiation region
Name:TRMT2A_1
Description:tRNA methyltransferase 2 homolog A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27815  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,117,226 - 20,117,286EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24974 AgrOrtholog
COSMIC TRMT2A COSMIC
Ensembl Genes ENSG00000099899 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000252136 ENTREZGENE
  ENST00000252136.12 UniProtKB/Swiss-Prot
  ENST00000403707 ENTREZGENE
  ENST00000403707.7 UniProtKB/Swiss-Prot
  ENST00000404751 ENTREZGENE
  ENST00000404751.7 UniProtKB/Swiss-Prot
  ENST00000439169 ENTREZGENE
  ENST00000439169.2 UniProtKB/TrEMBL
  ENST00000444256.1 UniProtKB/TrEMBL
  ENST00000444845.5 UniProtKB/TrEMBL
  ENST00000445045.1 UniProtKB/TrEMBL
  ENST00000492988.5 UniProtKB/TrEMBL
Gene3D-CATH 2.40.50.1070 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.70.330 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.150 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000099899 GTEx
HGNC ID HGNC:24974 ENTREZGENE
Human Proteome Map TRMT2A Human Proteome Map
InterPro Methyltranfer_dom UniProtKB/TrEMBL
  Nucleotide-bd_a/b_plait_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBD_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM-dependent_MTases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRM2_euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRMT2A_RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  U5_MeTrfase_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:27037 UniProtKB/Swiss-Prot
NCBI Gene 27037 ENTREZGENE
OMIM 611151 OMIM
PANTHER PTHR45904 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRNA (URACIL-5-)-METHYLTRANSFERASE HOMOLOG A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Methyltransf_31 UniProtKB/TrEMBL
  tRNA_U5-meth_tr UniProtKB/Swiss-Prot
PharmGKB PA164726751 PharmGKB
PROSITE RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM_MT_RNA_M5U UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53335 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54928 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A994J4Q5_HUMAN UniProtKB/TrEMBL
  C9K041_HUMAN UniProtKB/TrEMBL
  D3DX25 ENTREZGENE
  F2Z2W7 ENTREZGENE, UniProtKB/TrEMBL
  H7BZZ4_HUMAN UniProtKB/TrEMBL
  H7C100_HUMAN UniProtKB/TrEMBL
  Q32P57 ENTREZGENE
  Q8IZ69 ENTREZGENE
  Q96ME6 ENTREZGENE
  Q9H732 ENTREZGENE
  TRM2A_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary D3DX25 UniProtKB/Swiss-Prot
  Q32P57 UniProtKB/Swiss-Prot
  Q96ME6 UniProtKB/Swiss-Prot
  Q9H732 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-09-29 TRMT2A  tRNA methyltransferase 2 homolog A  TRMT2A  tRNA methyltransferase 2 homolog A (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED
2012-06-19 TRMT2A  tRNA methyltransferase 2 homolog A (S. cerevisiae)  TRMT2A  TRM2 tRNA methyltransferase 2 homolog A (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED