AIFM3 (apoptosis inducing factor mitochondria associated 3) - Rat Genome Database

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Gene: AIFM3 (apoptosis inducing factor mitochondria associated 3) Homo sapiens
Analyze
Symbol: AIFM3
Name: apoptosis inducing factor mitochondria associated 3
RGD ID: 1604991
HGNC Page HGNC:26398
Description: Predicted to enable oxidoreductase activity, acting on NAD(P)H. Involved in execution phase of apoptosis. Located in cytosol; endoplasmic reticulum; and mitochondrial inner membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: AIFL; apoptosis inducing factor, mitochondria associated 3; apoptosis-inducing factor 3; apoptosis-inducing factor like; apoptosis-inducing factor, mitochondrion-associated, 3; apoptosis-inducing factor-like protein; FLJ30473; FLJ45137
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382220,965,172 - 20,981,358 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2220,965,108 - 20,981,360 (+)EnsemblGRCh38hg38GRCh38
GRCh372221,319,460 - 21,335,647 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362219,649,434 - 19,665,649 (+)NCBINCBI36Build 36hg18NCBI36
Celera224,810,763 - 4,826,996 (+)NCBICelera
Cytogenetic Map22q11.21NCBI
HuRef224,589,741 - 4,603,945 (+)NCBIHuRef
CHM1_12221,319,619 - 21,335,846 (+)NCBICHM1_1
T2T-CHM13v2.02221,373,992 - 21,390,168 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

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:12477932   PMID:14702039   PMID:15461802   PMID:15489334   PMID:15764604   PMID:15790807   PMID:16001080   PMID:16344560   PMID:18029348   PMID:18482256   PMID:19166416   PMID:20877624  
PMID:21244100   PMID:21832049   PMID:21873635   PMID:22387901   PMID:22550867   PMID:26344197   PMID:27197753   PMID:27473083   PMID:28514442   PMID:31088422   PMID:32664187   PMID:33961781  
PMID:34502088   PMID:34949658  


Genomics

Comparative Map Data
AIFM3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382220,965,172 - 20,981,358 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2220,965,108 - 20,981,360 (+)EnsemblGRCh38hg38GRCh38
GRCh372221,319,460 - 21,335,647 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362219,649,434 - 19,665,649 (+)NCBINCBI36Build 36hg18NCBI36
Celera224,810,763 - 4,826,996 (+)NCBICelera
Cytogenetic Map22q11.21NCBI
HuRef224,589,741 - 4,603,945 (+)NCBIHuRef
CHM1_12221,319,619 - 21,335,846 (+)NCBICHM1_1
T2T-CHM13v2.02221,373,992 - 21,390,168 (+)NCBIT2T-CHM13v2.0
Aifm3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391617,307,418 - 17,325,349 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1617,307,475 - 17,325,349 (+)EnsemblGRCm39 Ensembl
GRCm381617,489,624 - 17,507,485 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1617,489,611 - 17,507,485 (+)EnsemblGRCm38mm10GRCm38
MGSCv371617,489,784 - 17,507,575 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361617,403,254 - 17,421,045 (+)NCBIMGSCv36mm8
Celera1618,062,758 - 18,080,551 (+)NCBICelera
Cytogenetic Map16A3NCBI
cM Map1610.84NCBI
Aifm3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81197,009,100 - 97,030,601 (-)NCBIGRCr8
mRatBN7.21183,504,859 - 83,523,630 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1183,504,861 - 83,521,248 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1192,232,276 - 92,247,077 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01184,893,435 - 84,908,236 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01183,947,043 - 83,961,844 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01187,364,452 - 87,380,705 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1187,366,621 - 87,380,704 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01190,417,097 - 90,431,999 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41185,496,302 - 85,512,831 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11185,544,286 - 85,551,637 (-)NCBI
Celera1182,273,467 - 82,288,125 (-)NCBICelera
Cytogenetic Map11q23NCBI
Aifm3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544219,333,591 - 19,346,438 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544219,334,217 - 19,346,438 (-)NCBIChiLan1.0ChiLan1.0
AIFM3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22330,663,078 - 30,688,168 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12233,220,882 - 33,237,106 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0223,189,169 - 3,205,394 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12219,679,872 - 19,695,349 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2219,679,873 - 19,695,349 (+)Ensemblpanpan1.1panPan2
AIFM3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12630,520,542 - 30,533,256 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2630,519,872 - 30,532,796 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2630,478,323 - 30,492,711 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02631,928,867 - 31,943,261 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2631,910,811 - 31,943,250 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12629,974,681 - 29,989,031 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02629,598,646 - 29,613,004 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02630,687,693 - 30,702,093 (-)NCBIUU_Cfam_GSD_1.0
Aifm3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118140,249,410 - 140,263,534 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366192,493,256 - 2,504,322 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366192,485,840 - 2,505,075 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AIFM3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1450,562,776 - 50,576,275 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11450,562,611 - 50,576,273 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21454,011,363 - 54,025,438 (+)NCBISscrofa10.2Sscrofa10.2susScr3
AIFM3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1194,901,118 - 4,917,290 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl194,904,050 - 4,918,224 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660852,052,891 - 2,068,955 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Aifm3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624945710,820 - 722,621 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624945710,562 - 724,699 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in AIFM3
28 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 22q11.21(chr22:18915347-21463730)x1 copy number loss VATER association [RCV000520380] Chr22:18915347..21463730 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 copy number gain See cases [RCV000050271] Chr22:18339130..21207225 [GRCh38]
Chr22:18919942..21561514 [GRCh37]
Chr22:17299942..19891514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x1 copy number loss See cases [RCV000050273] Chr22:18339130..21207225 [GRCh38]
Chr22:18919942..21561514 [GRCh37]
Chr22:17299942..19891514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:20671366-22046408)x3 copy number gain See cases [RCV000050932] Chr22:20671366..22046408 [GRCh38]
Chr22:21025654..22400806 [GRCh37]
Chr22:19355654..20730806 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 copy number gain See cases [RCV000050991] Chr22:18339130..21086225 [GRCh38]
Chr22:18919942..21440514 [GRCh37]
Chr22:17299942..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 copy number loss See cases [RCV000050992] Chr22:18339130..21086225 [GRCh38]
Chr22:18919942..21440514 [GRCh37]
Chr22:17299942..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18389245-21207225)x1 copy number loss See cases [RCV000050893] Chr22:18389245..21207225 [GRCh38]
Chr22:20659547..21561514 [GRCh37]
Chr22:18989547..19891514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3 copy number gain See cases [RCV000050768] Chr22:18178957..31821193 [GRCh38]
Chr22:18661724..32217179 [GRCh37]
Chr22:17041724..30547179 [NCBI36]
Chr22:22q11.21-12.3		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss See cases [RCV000050550] Chr22:18339130..21151128 [GRCh38]
Chr22:18706001..21505417 [GRCh37]
Chr22:17086001..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:20394686-21145682)x3 copy number gain See cases [RCV000050725] Chr22:20394686..21145682 [GRCh38]
Chr22:20748976..21499971 [GRCh37]
Chr22:19078976..19829971 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-21151128)x3 copy number gain See cases [RCV000050614] Chr22:16916608..21151128 [GRCh38]
Chr22:17397498..21505417 [GRCh37]
Chr22:15777498..19835417 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3 copy number gain See cases [RCV000050628] Chr22:18339130..21454720 [GRCh38]
Chr22:18919942..21809009 [GRCh37]
Chr22:17299942..20139009 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3 copy number gain See cases [RCV000050387] Chr22:18339130..21151128 [GRCh38]
Chr22:18919942..21505417 [GRCh37]
Chr22:17299942..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050630]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050630]|See cases [RCV000050630] Chr22:18339130..21454720 [GRCh38]
Chr22:18919942..21809009 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21207225)x1 copy number loss See cases [RCV000050360] Chr22:18178957..21207225 [GRCh38]
Chr22:18661724..21561514 [GRCh37]
Chr22:17041724..19891514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)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(chr22:18145052-21086366)x1 copy number loss See cases [RCV000051271] Chr22:18145052..21086366 [GRCh38]
Chr22:18627819..21440655 [GRCh37]
Chr22:17007819..19770655 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18145252-21151128)x1 copy number loss See cases [RCV000051272] Chr22:18145252..21151128 [GRCh38]
Chr22:18628019..21505417 [GRCh37]
Chr22:17008019..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18167908-21101267)x3 copy number gain See cases [RCV000051273] Chr22:18167908..21101267 [GRCh38]
Chr22:18650675..21455556 [GRCh37]
Chr22:17030675..19785556 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18167908-21101267)x1 copy number loss See cases [RCV000051275] Chr22:18167908..21101267 [GRCh38]
Chr22:18650675..21455556 [GRCh37]
Chr22:17030675..19785556 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18177786-21101267)x3 copy number gain See cases [RCV000051276] Chr22:18177786..21101267 [GRCh38]
Chr22:18660553..21455556 [GRCh37]
Chr22:17040553..19785556 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18177786-21101267)x1 copy number loss See cases [RCV000051278] Chr22:18177786..21101267 [GRCh38]
Chr22:18660553..21455556 [GRCh37]
Chr22:17040553..19785556 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21086225)x1 copy number loss See cases [RCV000051283] Chr22:18178957..21086225 [GRCh38]
Chr22:18661724..21440514 [GRCh37]
Chr22:17041724..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18188862-21182552)x1 copy number loss See cases [RCV000051286] Chr22:18188862..21182552 [GRCh38]
Chr22:18671629..21536841 [GRCh37]
Chr22:17051629..19866841 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151269)x1 copy number loss See cases [RCV000051295] Chr22:18339130..21151269 [GRCh38]
Chr22:18705801..21505558 [GRCh37]
Chr22:17085801..19835558 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086366)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051296]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051296]|See cases [RCV000051296] Chr22:18339130..21086366 [GRCh38]
Chr22:18705801..21440655 [GRCh37]
Chr22:17085801..19770655 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x1 copy number loss See cases [RCV000051298] Chr22:18339130..21454720 [GRCh38]
Chr22:18706001..21809009 [GRCh37]
Chr22:17086001..20139009 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21107522)x1 copy number loss See cases [RCV000051301] Chr22:18339130..21107522 [GRCh38]
Chr22:18890271..21461811 [GRCh37]
Chr22:17270271..19791811 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21040441)x1 copy number loss See cases [RCV000051321] Chr22:18339130..21040441 [GRCh38]
Chr22:18890271..21394730 [GRCh37]
Chr22:17270271..19724730 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 copy number gain See cases [RCV000051323] Chr22:18339130..21086225 [GRCh38]
Chr22:18896972..21440514 [GRCh37]
Chr22:17276972..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 copy number loss See cases [RCV000051324] Chr22:18339130..21086225 [GRCh38]
Chr22:18896972..21440514 [GRCh37]
Chr22:17276972..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086366)x1 copy number loss See cases [RCV000051325] Chr22:18339130..21086366 [GRCh38]
Chr22:18919742..21440655 [GRCh37]
Chr22:17299742..19770655 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151269)x1 copy number loss See cases [RCV000051328] Chr22:18339130..21151269 [GRCh38]
Chr22:18919742..21505558 [GRCh37]
Chr22:17299742..19835558 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20726972-21151128)x3 copy number gain See cases [RCV000051094] Chr22:20726972..21151128 [GRCh38]
Chr22:21081260..21505417 [GRCh37]
Chr22:19411260..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:20726972-21151128)x1 copy number loss See cases [RCV000051096] Chr22:20726972..21151128 [GRCh38]
Chr22:21081260..21505417 [GRCh37]
Chr22:19411260..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051023]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051023]|See cases [RCV000051023] Chr22:18339130..21086225 [GRCh38]
Chr22:18706001..21440514 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 copy number loss See cases [RCV000051024] Chr22:18339130..21086225 [GRCh38]
Chr22:18706001..21440514 [GRCh37]
Chr22:17086001..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21151128)x3 copy number gain See cases [RCV000051170] Chr22:18178957..21151128 [GRCh38]
Chr22:18661724..21505417 [GRCh37]
Chr22:17041724..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21151128)x1 copy number loss See cases [RCV000051171] Chr22:18178957..21151128 [GRCh38]
Chr22:18661724..21505417 [GRCh37]
Chr22:17041724..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20400132-21151128)x3 copy number gain See cases [RCV000051176] Chr22:20400132..21151128 [GRCh38]
Chr22:20754422..21505417 [GRCh37]
Chr22:19084422..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:20400132-21151128)x1 copy number loss See cases [RCV000051177] Chr22:20400132..21151128 [GRCh38]
Chr22:20754422..21505417 [GRCh37]
Chr22:19084422..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x3 copy number gain See cases [RCV000051942] Chr22:18339130..21101267 [GRCh38]
Chr22:18950766..21455556 [GRCh37]
Chr22:17330766..19785556 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 copy number gain See cases [RCV000051944] Chr22:18339130..21207225 [GRCh38]
Chr22:20402633..21561514 [GRCh37]
Chr22:18782633..19891514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20604697-21025669)x3 copy number gain See cases [RCV000051960] Chr22:20604697..21025669 [GRCh38]
Chr22:20958984..21379958 [GRCh37]
Chr22:19288984..19709958 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:20668552-22358488)x3 copy number gain See cases [RCV000051961] Chr22:20668552..22358488 [GRCh38]
Chr22:21022840..22712836 [GRCh37]
Chr22:19352840..21042836 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21(chr22:20690750-21101267)x3 copy number gain See cases [RCV000051962] Chr22:20690750..21101267 [GRCh38]
Chr22:21045038..21455556 [GRCh37]
Chr22:19375038..19785556 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20726972-21207225)x3 copy number gain See cases [RCV000051963] Chr22:20726972..21207225 [GRCh38]
Chr22:21081260..21561514 [GRCh37]
Chr22:19411260..19891514 [NCBI36]
Chr22:22q11.21		 pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:20732418-21091671)x3 copy number gain See cases [RCV000051964] Chr22:20732418..21091671 [GRCh38]
Chr22:21086706..21445960 [GRCh37]
Chr22:19416706..19775960 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18169870-21559889)x3 copy number gain See cases [RCV000051918] Chr22:18169870..21559889 [GRCh38]
Chr22:18652637..21914178 [GRCh37]
Chr22:17032637..20244178 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21056995)x3 copy number gain See cases [RCV000051919] Chr22:18339130..21056995 [GRCh38]
Chr22:18704554..21411284 [GRCh37]
Chr22:17084554..19741284 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207381)x3 copy number gain See cases [RCV000051920] Chr22:18339130..21207381 [GRCh38]
Chr22:18705801..21561670 [GRCh37]
Chr22:17085801..19891670 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3 copy number gain See cases [RCV000051937] Chr22:18339130..21151128 [GRCh38]
Chr22:18890271..21505417 [GRCh37]
Chr22:17270271..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 copy number gain See cases [RCV000051938] Chr22:18339130..21207225 [GRCh38]
Chr22:18890271..21561514 [GRCh37]
Chr22:17270271..19891514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21444466)x3 copy number gain See cases [RCV000051939] Chr22:18339130..21444466 [GRCh38]
Chr22:18909038..21798755 [GRCh37]
Chr22:17289038..20128755 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 copy number gain See cases [RCV000051940] Chr22:18339130..21086225 [GRCh38]
Chr22:18909038..21440514 [GRCh37]
Chr22:17289038..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.1-11.23(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(chr22:20946002-20976899)x3 copy number gain See cases [RCV000053106] Chr22:20946002..20976899 [GRCh38]
Chr22:21300290..21331188 [GRCh37]
Chr22:19630290..19661188 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21107522)x1 copy number loss See cases [RCV000053047] Chr22:18339130..21107522 [GRCh38]
Chr22:19035017..21461811 [GRCh37]
Chr22:17415017..19791811 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053048]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053048]|See cases [RCV000053048] Chr22:18339130..21151128 [GRCh38]
Chr22:19358153..21505417 [GRCh37]
Chr22:17738153..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20354600-21053401)x1 copy number loss See cases [RCV000053050] Chr22:20354600..21053401 [GRCh38]
Chr22:20708890..21407690 [GRCh37]
Chr22:19038890..19737690 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20363880-21073647)x1 copy number loss See cases [RCV000053053] Chr22:20363880..21073647 [GRCh38]
Chr22:20718170..21427936 [GRCh37]
Chr22:19048170..19757936 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20379137-21151128)x1 copy number loss See cases [RCV000053055] Chr22:20379137..21151128 [GRCh38]
Chr22:20733427..21505417 [GRCh37]
Chr22:19063427..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20711594-21101267)x1 copy number loss See cases [RCV000053058] Chr22:20711594..21101267 [GRCh38]
Chr22:21065882..21455556 [GRCh37]
Chr22:19395882..19785556 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:20726772-23135971)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053061]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053061]|See cases [RCV000053061] Chr22:20726772..23135971 [GRCh38]
Chr22:21081060..23478158 [GRCh37]
Chr22:19411060..21808158 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x1 copy number loss See cases [RCV000053015] Chr22:18339130..21101267 [GRCh38]
Chr22:18938161..21455556 [GRCh37]
Chr22:17318161..19785556 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x1 copy number loss See cases [RCV000053027] Chr22:18339130..21101267 [GRCh38]
Chr22:18962313..21455556 [GRCh37]
Chr22:17342313..19785556 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x1 copy number loss See cases [RCV000053029] Chr22:18339130..21101267 [GRCh38]
Chr22:18999803..21455556 [GRCh37]
Chr22:17379803..19785556 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151269)x1 copy number loss See cases [RCV000053006] Chr22:18339130..21151269 [GRCh38]
Chr22:18919942..21505558 [GRCh37]
Chr22:17299942..19835558 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x3 copy number gain See cases [RCV000053012] Chr22:18339130..21101267 [GRCh38]
Chr22:18938161..21455556 [GRCh37]
Chr22:17318161..19785556 [NCBI36]
Chr22:22q11.21		 pathogenic
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
GRCh37/hg19 22q11.21(chr22:20733495-21463730)x1 copy number loss See cases [RCV000663402] Chr22:20733495..21463730 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18389245-21086225)x3 copy number gain See cases [RCV000133642] Chr22:18389245..21086225 [GRCh38]
Chr22:20659547..21440514 [GRCh37]
Chr22:18989547..19770514 [NCBI36]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.21(chr22:18389245-21086225)x1 copy number loss See cases [RCV000133643] Chr22:18389245..21086225 [GRCh38]
Chr22:20659547..21440514 [GRCh37]
Chr22:18989547..19770514 [NCBI36]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
Single allele deletion Epilepsy [RCV001293366] Chr22:18889490..21463730 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 copy number gain See cases [RCV000051023] Chr22:18339130..21086225 [GRCh38]
Chr22:18706001..21440514 [GRCh37]
Chr22:17086001..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
Single allele deletion 22q11.2 deletion syndrome [RCV003221321] Chr22:18274663..21110254 [GRCh38]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x4 copy number gain See cases [RCV000133889] Chr22:18339130..21151128 [GRCh38]
Chr22:18894835..21505417 [GRCh37]
Chr22:17274835..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss See cases [RCV000133890] Chr22:18339130..21151128 [GRCh38]
Chr22:18894835..21505417 [GRCh37]
Chr22:17274835..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 copy number gain See cases [RCV000133880] Chr22:18339130..21207225 [GRCh38]
Chr22:18894835..21561514 [GRCh37]
Chr22:17274835..19891514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x1 copy number loss See cases [RCV000133881] Chr22:18339130..21207225 [GRCh38]
Chr22:18894835..21561514 [GRCh37]
Chr22:17274835..19891514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3 copy number gain See cases [RCV000133887] Chr22:18339130..21151128 [GRCh38]
Chr22:18894835..21505417 [GRCh37]
Chr22:17274835..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x1 copy number loss See cases [RCV000050630] Chr22:18339130..21454720 [GRCh38]
Chr22:18919942..21809009 [GRCh37]
Chr22:17299942..20139009 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20400132-21086225)x1 copy number loss See cases [RCV000133629] Chr22:20400132..21086225 [GRCh38]
Chr22:20754422..21440514 [GRCh37]
Chr22:19084422..19770514 [NCBI36]
Chr22:22q11.21		 conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21107463)x3 copy number gain See cases [RCV000134519] Chr22:18339130..21107463 [GRCh38]
Chr22:18894835..21461752 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21107463)x1 copy number loss See cases [RCV000134520] Chr22:18339130..21107463 [GRCh38]
Chr22:18894835..21461752 [GRCh37]
Chr22:17274835..19791752 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20726972-21086166)x3 copy number gain See cases [RCV000134521] Chr22:20726972..21086166 [GRCh38]
Chr22:21081260..21440455 [GRCh37]
Chr22:19411260..19770455 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20711594-21583391)x1 copy number loss See cases [RCV000134522] Chr22:20711594..21583391 [GRCh38]
Chr22:21065882..21937680 [GRCh37]
Chr22:19395882..20267680 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178932-21151156)x3 copy number gain See cases [RCV000134128] Chr22:18178932..21151156 [GRCh38]
Chr22:18661699..21505445 [GRCh37]
Chr22:17041699..19835445 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086226)x3 copy number gain See cases [RCV000134084] Chr22:18339130..21086226 [GRCh38]
Chr22:18894820..21440515 [GRCh37]
Chr22:17274820..19770515 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086226)x1 copy number loss See cases [RCV000134085] Chr22:18339130..21086226 [GRCh38]
Chr22:18894820..21440515 [GRCh37]
Chr22:17274820..19770515 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178932-21151156)x1 copy number loss See cases [RCV000134130] Chr22:18178932..21151156 [GRCh38]
Chr22:18661699..21505445 [GRCh37]
Chr22:17041699..19835445 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18168847-21086166)x3 copy number gain See cases [RCV000135308] Chr22:18168847..21086166 [GRCh38]
Chr22:18651614..21440455 [GRCh37]
Chr22:17031614..19770455 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:20671366-22088366)x3 copy number gain See cases [RCV000134888] Chr22:20671366..22088366 [GRCh38]
Chr22:21025654..22442778 [GRCh37]
Chr22:19355654..20772778 [NCBI36]
Chr22:22q11.21-11.22		 uncertain significance
GRCh38/hg38 22q11.21(chr22:18145380-21086226)x1 copy number loss See cases [RCV000134837] Chr22:18145380..21086226 [GRCh38]
Chr22:18628147..21440515 [GRCh37]
Chr22:17008147..19770515 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21086225)x3 copy number gain See cases [RCV000135519] Chr22:18178957..21086225 [GRCh38]
Chr22:18661724..21440514 [GRCh37]
Chr22:17041724..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20671366-21151128)x4 copy number gain See cases [RCV000135614] Chr22:20671366..21151128 [GRCh38]
Chr22:21025654..21505417 [GRCh37]
Chr22:19355654..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 copy number gain See cases [RCV000135456] Chr22:18339130..21207225 [GRCh38]
Chr22:19058829..21561514 [GRCh37]
Chr22:17438829..19891514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21307146)x3 copy number gain See cases [RCV000136518] Chr22:18178957..21307146 [GRCh38]
Chr22:18661724..21661435 [GRCh37]
Chr22:17041724..19991435 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss See cases [RCV000136527] Chr22:18339130..21151128 [GRCh38]
Chr22:20311704..21505417 [GRCh37]
Chr22:18691704..19835417 [NCBI36]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.21(chr22:20354600-21207225)x3 copy number gain See cases [RCV000136542] Chr22:20354600..21207225 [GRCh38]
Chr22:20708890..21561514 [GRCh37]
Chr22:19038890..19891514 [NCBI36]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.21(chr22:18339130-21003834)x3 copy number gain See cases [RCV000135898] Chr22:18339130..21003834 [GRCh38]
Chr22:18908832..21358123 [GRCh37]
Chr22:17288832..19688123 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20400117-21086226)x1 copy number loss See cases [RCV000136039] Chr22:20400117..21086226 [GRCh38]
Chr22:20754407..21440515 [GRCh37]
Chr22:19084407..19770515 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:20726972-24197852)x1 copy number loss See cases [RCV000136889] Chr22:20726972..24197852 [GRCh38]
Chr22:21081260..24593820 [GRCh37]
Chr22:19411260..22923820 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21028664)x1 copy number loss See cases [RCV000136808] Chr22:18339130..21028664 [GRCh38]
Chr22:18896972..21382953 [GRCh37]
Chr22:17276972..19712953 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 copy number loss See cases [RCV000136677] Chr22:18339130..21086225 [GRCh38]
Chr22:19058829..21440514 [GRCh37]
Chr22:17438829..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21441926)x1 copy number loss See cases [RCV000136758] Chr22:18339130..21441926 [GRCh38]
Chr22:18891526..21796215 [GRCh37]
Chr22:17271526..20126215 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21107522)x1 copy number loss See cases [RCV000137504] Chr22:18178957..21107522 [GRCh38]
Chr22:18661724..21461811 [GRCh37]
Chr22:17041724..19791811 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21107522)x1 copy number loss See cases [RCV000138169] Chr22:18339130..21107522 [GRCh38]
Chr22:18894835..21461811 [GRCh37]
Chr22:17274835..19791811 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3 copy number gain See cases [RCV000138187] Chr22:18339130..21454720 [GRCh38]
Chr22:18894835..21809009 [GRCh37]
Chr22:17274835..20139009 [NCBI36]
Chr22:22q11.21		 pathogenic|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18145252-21109830)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 22q11.21-12.3(chr22:20907226-37187347)x3 copy number gain See cases [RCV000137926] Chr22:20907226..37187347 [GRCh38]
Chr22:21261514..37583387 [GRCh37]
Chr22:19591514..35913333 [NCBI36]
Chr22:22q11.21-12.3		 pathogenic
GRCh38/hg38 22q11.21(chr22:18389245-21454720)x3 copy number gain See cases [RCV000137927] Chr22:18389245..21454720 [GRCh38]
Chr22:20659547..21809009 [GRCh37]
Chr22:18989547..20139009 [NCBI36]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.21(chr22:18339130-21109830)x1 copy number loss See cases [RCV000137960] Chr22:18339130..21109830 [GRCh38]
Chr22:18894835..21464119 [GRCh37]
Chr22:17274835..19794119 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20378147-21151128)x1 copy number loss See cases [RCV000138684] Chr22:20378147..21151128 [GRCh38]
Chr22:20732437..21505417 [GRCh37]
Chr22:19062437..19835417 [NCBI36]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.21(chr22:18178957-21109830)x1 copy number loss See cases [RCV000138671] Chr22:18178957..21109830 [GRCh38]
Chr22:18661724..21464119 [GRCh37]
Chr22:17041724..19794119 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20812202-21053392)x3 copy number gain See cases [RCV000138791] Chr22:20812202..21053392 [GRCh38]
Chr22:21166490..21407681 [GRCh37]
Chr22:19496490..19737681 [NCBI36]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.21(chr22:18339130-21109830)x1 copy number loss See cases [RCV000138354] Chr22:18339130..21109830 [GRCh38]
Chr22:18706001..21464119 [GRCh37]
Chr22:17086001..19794119 [NCBI36]
Chr22:22q11.21		 pathogenic|conflicting data from submitters
GRCh38/hg38 22q11.21-11.22(chr22:18178932-22562620)x3 copy number gain See cases [RCV000139316] Chr22:18178932..22562620 [GRCh38]
Chr22:18661699..22905025 [GRCh37]
Chr22:17041699..21235025 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21(chr22:20711594-21151128)x3 copy number gain See cases [RCV000139254] Chr22:20711594..21151128 [GRCh38]
Chr22:21065882..21505417 [GRCh37]
Chr22:19395882..19835417 [NCBI36]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.21(chr22:20711594-21151128)x1 copy number loss See cases [RCV000139255] Chr22:20711594..21151128 [GRCh38]
Chr22:21065882..21505417 [GRCh37]
Chr22:19395882..19835417 [NCBI36]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.21(chr22:18339130-21151156)x3 copy number gain See cases [RCV000139000] Chr22:18339130..21151156 [GRCh38]
Chr22:18894820..21505445 [GRCh37]
Chr22:17274820..19835445 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20375098-21111370)x3 copy number gain See cases [RCV000140073] Chr22:20375098..21111370 [GRCh38]
Chr22:20729388..21465659 [GRCh37]
Chr22:19059388..19795659 [NCBI36]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x3 copy number gain See cases [RCV000139955] Chr22:18339130..21111373 [GRCh38]
Chr22:18916828..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21-11.23(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(chr22:18178957-21107463)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(chr22:18339130-21109830)x1 copy number loss See cases [RCV000140853] Chr22:18339130..21109830 [GRCh38]
Chr22:19035323..21464119 [GRCh37]
Chr22:17415323..19794119 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20400132-21107463)x1 copy number loss See cases [RCV000140771] Chr22:20400132..21107463 [GRCh38]
Chr22:20754422..21461752 [GRCh37]
Chr22:19084422..19791752 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101210)x1 copy number loss See cases [RCV000140773] Chr22:18339130..21101210 [GRCh38]
Chr22:18999803..21455499 [GRCh37]
Chr22:17379803..19785499 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20540868-21020223)x3 copy number gain See cases [RCV000141594] Chr22:20540868..21020223 [GRCh38]
Chr22:20895155..21374512 [GRCh37]
Chr22:19225155..19704512 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1 copy number loss See cases [RCV000141704] Chr22:18339130..21111370 [GRCh38]
Chr22:18916828..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20980781)x1 copy number loss See cases [RCV000141782] Chr22:18339130..20980781 [GRCh38]
Chr22:20277314..21335070 [GRCh37]
Chr22:18657314..19665070 [NCBI36]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.21(chr22:18157962-21111370)x3 copy number gain See cases [RCV000141737] Chr22:18157962..21111370 [GRCh38]
Chr22:18640729..21465659 [GRCh37]
Chr22:17020729..19795659 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21450597)x1 copy number loss See cases [RCV000141677] Chr22:18339130..21450597 [GRCh38]
Chr22:18916842..21804886 [GRCh37]
Chr22:17296842..20134886 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18166089-21111373)x1 copy number loss See cases [RCV000142253] Chr22:18166089..21111373 [GRCh38]
Chr22:18648856..21465662 [GRCh37]
Chr22:17028856..19795662 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1 copy number loss See cases [RCV000142073] Chr22:18339130..21111370 [GRCh38]
Chr22:19024656..21465659 [GRCh37]
Chr22:17404656..19795659 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18161474-21111373)x1 copy number loss See cases [RCV000142151] Chr22:18161474..21111373 [GRCh38]
Chr22:18644241..21465662 [GRCh37]
Chr22:17024241..19795662 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20363364-21111373)x1 copy number loss See cases [RCV000142113] Chr22:20363364..21111373 [GRCh38]
Chr22:20717654..21465662 [GRCh37]
Chr22:19047654..19795662 [NCBI36]
Chr22:22q11.21		 uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:20362587-21111370)x3 copy number gain See cases [RCV000142179] Chr22:20362587..21111370 [GRCh38]
Chr22:20716877..21465659 [GRCh37]
Chr22:19046877..19795659 [NCBI36]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.21(chr22:20378147-21151128)x3 copy number gain See cases [RCV000142883] Chr22:20378147..21151128 [GRCh38]
Chr22:20732437..21505417 [GRCh37]
Chr22:19062437..19835417 [NCBI36]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.21(chr22:18389245-21109830)x1 copy number loss See cases [RCV000142988] Chr22:18389245..21109830 [GRCh38]
Chr22:20659547..21464119 [GRCh37]
Chr22:18989547..19794119 [NCBI36]
Chr22:22q11.21		 likely pathogenic|uncertain significance
GRCh38/hg38 22q11.21(chr22:18389245-21151128)x1 copy number loss See cases [RCV000142670] Chr22:18389245..21151128 [GRCh38]
Chr22:20659547..21505417 [GRCh37]
Chr22:18989547..19835417 [NCBI36]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.21(chr22:18178957-21454720)x1 copy number loss See cases [RCV000142783] Chr22:18178957..21454720 [GRCh38]
Chr22:18661724..21809009 [GRCh37]
Chr22:17041724..20139009 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21307146)x1 copy number loss See cases [RCV000142734] Chr22:18339130..21307146 [GRCh38]
Chr22:18765085..21661435 [GRCh37]
Chr22:17145085..19991435 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21447315)x3 copy number gain See cases [RCV000142641] Chr22:18339130..21447315 [GRCh38]
Chr22:18919942..21801604 [GRCh37]
Chr22:17299942..20131604 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1 copy number loss See cases [RCV000143362] Chr22:18339130..21111373 [GRCh38]
Chr22:18916827..21465662 [GRCh37]
Chr22:17296827..19795662 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x3 copy number gain See cases [RCV000143391] Chr22:18339130..21111370 [GRCh38]
Chr22:18916828..21465659 [GRCh37]
Chr22:17296828..19795659 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1 copy number loss See cases [RCV000143442] Chr22:18339130..21111373 [GRCh38]
Chr22:18970561..21465662 [GRCh37]
Chr22:17350561..19795662 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1 copy number loss See cases [RCV000143225] Chr22:18339130..21111373 [GRCh38]
Chr22:18916842..21465662 [GRCh37]
Chr22:17296842..19795662 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1 copy number loss See cases [RCV000143293] Chr22:18339130..21111370 [GRCh38]
Chr22:18876630..21465659 [GRCh37]
Chr22:17256630..19795659 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x3 copy number gain See cases [RCV000143229] Chr22:18339130..21111370 [GRCh38]
Chr22:18916842..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1 copy number loss See cases [RCV000143234] Chr22:18339130..21111370 [GRCh38]
Chr22:18916842..21465659 [GRCh37]
Chr22:17296842..19795659 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1 copy number loss See cases [RCV000143126] Chr22:18339130..21111373 [GRCh38]
Chr22:18916828..21465662 [GRCh37]
Chr22:17296828..19795662 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 copy number gain See cases [RCV000148047] Chr22:18339130..21207225 [GRCh38]
Chr22:18919942..21561514 [GRCh37]
Chr22:17299942..19891514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20726972-21207225)x3 copy number gain See cases [RCV000148048] Chr22:20726972..21207225 [GRCh38]
Chr22:21081260..21561514 [GRCh37]
Chr22:19411260..19891514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20705381-21111370)x1 copy number loss See cases [RCV000143539] Chr22:20705381..21111370 [GRCh38]
Chr22:21059669..21465659 [GRCh37]
Chr22:19389669..19795659 [NCBI36]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.21(chr22:18178957-21151128)x3 copy number gain See cases [RCV000148257] Chr22:18178957..21151128 [GRCh38]
Chr22:18661724..21505417 [GRCh37]
Chr22:17041724..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21454720)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(chr22:20726972-21151128)x3 copy number gain See cases [RCV000148207] Chr22:20726972..21151128 [GRCh38]
Chr22:21081260..21505417 [GRCh37]
Chr22:19411260..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20400132-21151128)x1 copy number loss See cases [RCV000148143] Chr22:20400132..21151128 [GRCh38]
Chr22:20754422..21505417 [GRCh37]
Chr22:19084422..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20726972-21151128)x1 copy number loss See cases [RCV000148144] Chr22:20726972..21151128 [GRCh38]
Chr22:21081260..21505417 [GRCh37]
Chr22:19411260..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x1 copy number loss See cases [RCV000148160] Chr22:18339130..21207225 [GRCh38]
Chr22:18919942..21561514 [GRCh37]
Chr22:17299942..19891514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 copy number loss See cases [RCV000148136] Chr22:18339130..21086225 [GRCh38]
Chr22:18919942..21440514 [GRCh37]
Chr22:17299942..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:20400132-21151128)x3 copy number gain See cases [RCV000148138] Chr22:20400132..21151128 [GRCh38]
Chr22:20754422..21505417 [GRCh37]
Chr22:19084422..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21151128)x1 copy number loss See cases [RCV000148140] Chr22:18178957..21151128 [GRCh38]
Chr22:18661724..21505417 [GRCh37]
Chr22:17041724..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18145252-21151128)x1 copy number loss See cases [RCV000148178] Chr22:18145252..21151128 [GRCh38]
Chr22:18628019..21505417 [GRCh37]
Chr22:17008019..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21086225)x1 copy number loss See cases [RCV000148098] Chr22:18178957..21086225 [GRCh38]
Chr22:18661724..21440514 [GRCh37]
Chr22:17041724..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21207225)x1 copy number loss See cases [RCV000148186] Chr22:18178957..21207225 [GRCh38]
Chr22:18661724..21561514 [GRCh37]
Chr22:17041724..19891514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss See cases [RCV000148100] Chr22:18339130..21151128 [GRCh38]
Chr22:18706001..21505417 [GRCh37]
Chr22:17086001..19835417 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 copy number loss See cases [RCV000148101] Chr22:18339130..21086225 [GRCh38]
Chr22:18706001..21440514 [GRCh37]
Chr22:17086001..19770514 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:20749625-23972878)x1 copy number loss See cases [RCV000240250] Chr22:20749625..23972878 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.21(chr22:18894339-21440514)x1 copy number loss See cases [RCV000240142] Chr22:18894339..21440514 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18900442-21440514)x1 copy number loss See cases [RCV000240087] Chr22:18900442..21440514 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:17012935-21431054)x4 copy number gain See cases [RCV000258792] Chr22:17012935..21431054 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20958986-21440514)x3 copy number gain See cases [RCV000239800] Chr22:20958986..21440514 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18919579-21460595)x1 copy number loss See cases [RCV000258811] Chr22:18919579..21460595 [GRCh37]
Chr22:22q11.21		 pathogenic|likely pathogenic
GRCh37/hg19 22q11.21-12.1(chr22:18738296-25914592)x1 copy number loss Premature ovarian failure [RCV000225330] Chr22:18738296..25914592 [GRCh37]
Chr22:22q11.21-12.1		 benign
GRCh37/hg19 22q11.21(chr22:18894835-21440514)x1 copy number loss See cases [RCV000239867] Chr22:18894835..21440514 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18844632-21463730)x1 copy number loss See cases [RCV000239417] Chr22:18844632..21463730 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.21(chr22:21056165-21440514)x3 copy number gain See cases [RCV000240021] Chr22:21056165..21440514 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18650664-21440514)x3 copy number gain See cases [RCV000240570] Chr22:18650664..21440514 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.1-11.22(chr22:17264511-23238029)x3 copy number gain See cases [RCV000240483] Chr22:17264511..23238029 [GRCh37]
Chr22:22q11.1-11.22		 pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3 copy number gain See cases [RCV000240348] Chr22:16054691..27296513 [GRCh37]
Chr22:22q11.1-12.1		 pathogenic
GRCh37/hg19 22q11.21(chr22:21074920-21440514)x1 copy number loss See cases [RCV000240353] Chr22:21074920..21440514 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21(chr22:19023801-21440514)x1 copy number loss See cases [RCV000240303] Chr22:19023801..21440514 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18640729-21465659)x3 copy number gain See cases [RCV000449438] Chr22:18640729..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21800471)x1 copy number loss See cases [RCV000449444] Chr22:18916842..21800471 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:21065882-21440455)x3 copy number gain See cases [RCV000449379] Chr22:21065882..21440455 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:21044196-21440455)x4 copy number gain See cases [RCV000449176] Chr22:21044196..21440455 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:19024656-21798907)x1 copy number loss See cases [RCV000449418] Chr22:19024656..21798907 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21465661)x1 copy number loss See cases [RCV000446325] Chr22:18916842..21465661 [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(chr22:21059669-21461606)x1 copy number loss See cases [RCV000446362] Chr22:21059669..21461606 [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(chr22:18644790-21465659)x3 copy number gain See cases [RCV000447318] Chr22:18644790..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18894339-21440455)x3 copy number gain See cases [RCV000446626] Chr22:18894339..21440455 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21465662)x1 copy number loss See cases [RCV000446673] Chr22:18648866..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21915509)x1 copy number loss See cases [RCV000447211] Chr22:18644790..21915509 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21465659)x1 copy number loss See cases [RCV000446125] Chr22:18916842..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:19024656-21465659)x3 copy number gain See cases [RCV000446638] Chr22:19024656..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic|likely pathogenic
GRCh37/hg19 22q11.21(chr22:19023801-21440455)x1 copy number loss See cases [RCV000446681] Chr22:19023801..21440455 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18890042-21440455)x1 copy number loss See cases [RCV000446730] Chr22:18890042..21440455 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21800797)x1 copy number loss See cases [RCV000446918] Chr22:18916842..21800797 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:19024792-21465659)x3 copy number gain See cases [RCV000446402] Chr22:19024792..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18937381-21465659)x3 copy number gain See cases [RCV000447496] Chr22:18937381..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18636748-21465659)x3 copy number gain See cases [RCV000447019] Chr22:18636748..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21465662)x1 copy number loss See cases [RCV000447026] Chr22:18916842..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20725308-21465659)x3 copy number gain See cases [RCV000446738] Chr22:20725308..21465659 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18644790-21800471)x1 copy number loss See cases [RCV000446545] Chr22:18644790..21800471 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21798907)x1 copy number loss See cases [RCV000447063] Chr22:18648866..21798907 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18650664-21440455)x1 copy number loss See cases [RCV000446173] Chr22:18650664..21440455 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21465659)x1 copy number loss See cases [RCV000446944] Chr22:18648866..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18645353-21465662)x1 copy number loss See cases [RCV000447176] Chr22:18645353..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21798907)x1 copy number loss See cases [RCV000447508] Chr22:18644790..21798907 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21029655-22481498)x1 copy number loss See cases [RCV000446664] Chr22:21029655..22481498 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21915509)x1 copy number loss See cases [RCV000445962] Chr22:18916842..21915509 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21798907)x1 copy number loss See cases [RCV000445855] Chr22:18916842..21798907 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21025654-22336268)x3 copy number gain See cases [RCV000445877] Chr22:21025654..22336268 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
GRCh37/hg19 22q11.21(chr22:20717654-21465659)x3 copy number gain See cases [RCV000445676] Chr22:20717654..21465659 [GRCh37]
Chr22:22q11.21		 conflicting data from submitters
GRCh37/hg19 22q11.21(chr22:18648866-21465659)x3 copy number gain See cases [RCV000445951] Chr22:18648866..21465659 [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(chr22:21060189-21465659)x3 copy number gain See cases [RCV000447895] Chr22:21060189..21465659 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18631979-21465659)x3 copy number gain See cases [RCV000448925] Chr22:18631979..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21800797)x1 copy number loss See cases [RCV000448538] Chr22:18648866..21800797 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21465662)x3 copy number gain See cases [RCV000448166] Chr22:18916842..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916827-21465662)x1 copy number loss See cases [RCV000447793] Chr22:18916827..21465662 [GRCh37]
Chr22:22q11.21		 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
NC_000022.10:g.(?_20721034)_(21460598_?)del deletion Schizophrenia [RCV000416918] Chr22:20721034..21460598 [GRCh37]
Chr22:19051034..19790598 [NCBI36]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.1-11.23(chr22:16888899-23723805)x3 copy number gain See cases [RCV000448224] Chr22:16888899..23723805 [GRCh37]
Chr22:22q11.1-11.23		 pathogenic
GRCh37/hg19 22q11.21(chr22:18650664-21440455)x3 copy number gain See cases [RCV000448770] Chr22:18650664..21440455 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18917047-21465659)x1 copy number loss See cases [RCV000510221] Chr22:18917047..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18917047-21465662)x1 copy number loss See cases [RCV000510658] Chr22:18917047..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20716876-21465662)x1 copy number loss See cases [RCV000510715] Chr22:20716876..21465662 [GRCh37]
Chr22:22q11.21		 likely benign
GRCh37/hg19 22q11.21(chr22:19024657-21465662)x1 copy number loss See cases [RCV000510463] Chr22:19024657..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21029655-22481498)x1 copy number loss See cases [RCV000511898] Chr22:21029655..22481498 [GRCh37]
Chr22:22q11.21-11.22		 uncertain significance
GRCh37/hg19 22q11.21(chr22:21059669-21465662)x1 copy number loss See cases [RCV000511667] Chr22:21059669..21465662 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:20728956-21465659)x3 copy number gain See cases [RCV000510753] Chr22:20728956..21465659 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:20725308-21465659)x3 copy number gain See cases [RCV000510990] Chr22:20725308..21465659 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_001386814.1(AIFM3):c.1003G>A (p.Val335Met) single nucleotide variant Inborn genetic diseases [RCV003270566] Chr22:20976511 [GRCh38]
Chr22:21330800 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:21081260-21431174) copy number gain Abnormality of the eye [RCV000626529] Chr22:21081260..21431174 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18609712-21408430) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767590] Chr22:18609712..21408430 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18894835-21505417) copy number loss Ear malformation [RCV000626528] Chr22:18894835..21505417 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_001386814.1(AIFM3):c.343C>T (p.Pro115Ser) single nucleotide variant Inborn genetic diseases [RCV003280668] Chr22:20973855 [GRCh38]
Chr22:21328144 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18916842-21804716)x1 copy number loss See cases [RCV000512402] Chr22:18916842..21804716 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21465659)x3 copy number gain See cases [RCV000512387] Chr22:18644790..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18886915-21811991)x1 copy number loss See cases [RCV000663399] Chr22:18886915..21811991 [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(chr22:18916842-21465662)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 22q11.21-11.23(chr22:20716876-23819697)x1 copy number loss not provided [RCV000684515] Chr22:20716876..23819697 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21800797)x1 copy number loss not provided [RCV000684516] Chr22:18648866..21800797 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18626108-21800797)x1 copy number loss not provided [RCV000684517] Chr22:18626108..21800797 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18935463-21465659)x1 copy number loss not provided [RCV000684509] Chr22:18935463..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21915509)x1 copy number loss not provided [RCV000684519] Chr22:18644790..21915509 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:21075675-21465662)x1 copy number loss not provided [RCV000684473] Chr22:21075675..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic|likely pathogenic
GRCh37/hg19 22q11.21(chr22:21049799-21465662)x1 copy number loss not provided [RCV000684476] Chr22:21049799..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic|likely pathogenic
GRCh37/hg19 22q11.21(chr22:20732808-21464764)x3 copy number gain not provided [RCV000684484] Chr22:20732808..21464764 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:20716876-21465662)x1 copy number loss not provided [RCV000684485] Chr22:20716876..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic|likely pathogenic
GRCh37/hg19 22q11.21(chr22:20716876-21798907)x1 copy number loss not provided [RCV000684489] Chr22:20716876..21798907 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20311903-21465659)x1 copy number loss not provided [RCV000684490] Chr22:20311903..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20311903-21800797)x1 copy number loss not provided [RCV000684498] Chr22:20311903..21800797 [GRCh37]
Chr22:22q11.21		 pathogenic
NC_000022.11:g.(?_18159879)_(21387988_?)del deletion Schizophrenia [RCV000754241] Chr22:18159879..21387988 [GRCh38]
Chr22:22q11.21		 pathogenic
NC_000022.11:g.(?_18163926)_(21277123_?)del deletion Schizophrenia [RCV000754242] Chr22:18163926..21277123 [GRCh38]
Chr22:22q11.21		 pathogenic
NC_000022.11:g.(?_18802709)_(21343709_?)del deletion Schizophrenia [RCV000754243] Chr22:18802709..21343709 [GRCh38]
Chr22:22q11.21		 pathogenic
NC_000022.11:g.(?_18832909)_(21123588_?)del deletion Schizophrenia [RCV000754244] Chr22:18832909..21123588 [GRCh38]
Chr22:22q11.21		 pathogenic
NC_000022.11:g.(?_18880919)_(21123588_?)del deletion Schizophrenia [RCV000754247] Chr22:18880919..21123588 [GRCh38]
Chr22:22q11.21		 pathogenic
Single allele duplication Autism [RCV000754249] Chr22:18904453..21277123 [GRCh38]
Chr22:22q11.21		 pathogenic
Single allele duplication Autism [RCV000754250] Chr22:19295635..21510330 [GRCh38]
Chr22:22q11.21		 pathogenic
NC_000022.11:g.(?_20346735)_(21149007_?)del deletion Schizophrenia [RCV000754251] Chr22:20346735..21149007 [GRCh38]
Chr22:22q11.21		 likely pathogenic
NC_000022.11:g.(?_20346735)_(21277123_?)del deletion Schizophrenia [RCV000754252] Chr22:20346735..21277123 [GRCh38]
Chr22:22q11.21		 likely pathogenic
NC_000022.11:g.(?_20358985)_(21123588_?)del deletion Schizophrenia [RCV000754253] Chr22:20358985..21123588 [GRCh38]
Chr22:22q11.21		 likely pathogenic
NC_000022.11:g.(?_18846939)_(21221413_?)del deletion Schizophrenia [RCV000754245] Chr22:18846939..21221413 [GRCh38]
Chr22:22q11.21		 pathogenic
NC_000022.11:g.(?_18159879)_(21362822_?)del deletion Schizophrenia [RCV000754240] Chr22:18159879..21362822 [GRCh38]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18675473-21465050)x3 copy number gain not provided [RCV000741726] Chr22:18675473..21465050 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18728118-21811991)x1 copy number loss not provided [RCV000741727] Chr22:18728118..21811991 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18844632-21463730)x3 copy number gain not provided [RCV000741728] Chr22:18844632..21463730 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18844632-21608479)x1 copy number loss not provided [RCV000741729] Chr22:18844632..21608479 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18861748-21463730)x1 copy number loss not provided [RCV000741730] Chr22:18861748..21463730 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18872508-21465050)x1 copy number loss not provided [RCV000741731] Chr22:18872508..21465050 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18875869-21470273)x1 copy number loss not provided [RCV000741733] Chr22:18875869..21470273 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18875956-21466715)x1 copy number loss not provided [RCV000741734] Chr22:18875956..21466715 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18878409-21465050)x1 copy number loss not provided [RCV000741735] Chr22:18878409..21465050 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18878409-21467387)x3 copy number gain not provided [RCV000741736] Chr22:18878409..21467387 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18878409-21907671)x1 copy number loss not provided [RCV000741737] Chr22:18878409..21907671 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18884401-21467387)x3 copy number gain not provided [RCV000741738] Chr22:18884401..21467387 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18886915-21463730)x1 copy number loss not provided [RCV000741739] Chr22:18886915..21463730 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18886915-21465050)x1 copy number loss not provided [RCV000741740] Chr22:18886915..21465050 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18886915-21467387)x1 copy number loss not provided [RCV000741741] Chr22:18886915..21467387 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18889490-21466715)x1 copy number loss not provided [RCV000741743] Chr22:18889490..21466715 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.21(chr22:18891398-21463730)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(chr22:20711589-21465050)x3 copy number gain not provided [RCV000741762] Chr22:20711589..21465050 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:20733495-21463730)x1 copy number loss not provided [RCV000741764] Chr22:20733495..21463730 [GRCh37]
Chr22:22q11.21		 likely benign
GRCh37/hg19 22q11.21(chr22:20733495-21467387)x3 copy number gain not provided [RCV000741765] Chr22:20733495..21467387 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:20796175-21608479)x1 copy number loss not provided [RCV000741766] Chr22:20796175..21608479 [GRCh37]
Chr22:22q11.21		 benign
GRCh37/hg19 22q11.21(chr22:21061667-21465050)x1 copy number loss not provided [RCV000741773] Chr22:21061667..21465050 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:21062168-21463730)x1 copy number loss not provided [RCV000741774] Chr22:21062168..21463730 [GRCh37]
Chr22:22q11.21		 likely benign
GRCh37/hg19 22q11.21(chr22:21091815-21462353)x3 copy number gain not provided [RCV000741775] Chr22:21091815..21462353 [GRCh37]
Chr22:22q11.21		 benign
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.21(chr22:18889490-21917190)x1 copy number loss See cases [RCV000790601] Chr22:18889490..21917190 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18922151-21449911)x1 copy number loss Velocardiofacial syndrome [RCV000788058] Chr22:18922151..21449911 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:21062566-21463730)x1 copy number loss See cases [RCV000790588] Chr22:21062566..21463730 [GRCh37]
Chr22:22q11.21		 likely pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787412] Chr22:18890264..21540347 [GRCh37]
Chr22:22q11.21		 pathogenic
NC_000022.10:g.(?_21067569)_(21414817_?)del deletion not provided [RCV001031466] Chr22:21067569..21414817 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18892575-21460220) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767596] Chr22:18892575..21460220 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18661724-21505417)x1 copy number loss Velocardiofacial syndrome [RCV000856641] Chr22:18661724..21505417 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18892575-21460220) copy number 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(chr22:18892575-21460220) copy number loss DiGeorge syndrome [RCV000767692] Chr22:18892575..21460220 [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 22q11.21(chr22:18912231-21465672)x1 copy number loss Velocardiofacial syndrome [RCV000788056] Chr22:18912231..21465672 [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(chr22:18923898-21431174) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767630] Chr22:18923898..21431174 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20716876-21800471)x1 copy number loss 22q11.2 central deletion syndrome [RCV000788066] Chr22:20716876..21800471 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21(chr22:18650745-21460220) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767592] Chr22:18650745..21460220 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18650803-21460220) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767593] Chr22:18650803..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(chr22:18912514-21922035) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767627] Chr22:18912514..21922035 [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(chr22:18611223-21408430) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767591] Chr22:18611223..21408430 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18912403-21431174) copy number loss DiGeorge syndrome [RCV000767629] Chr22:18912403..21431174 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_001386814.1(AIFM3):c.1012G>A (p.Val338Met) single nucleotide variant Inborn genetic diseases [RCV003248011] Chr22:20976520 [GRCh38]
Chr22:21330809 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
Single allele duplication Neurodevelopmental disorder [RCV000787416] Chr22:18890264..21464056 [GRCh37]
Chr22:22q11.21		 likely 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(chr22:18648855-21927646)x3 copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000788063] Chr22:18648855..21927646 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:21033397-21465659)x3 copy number gain not provided [RCV000848285] Chr22:21033397..21465659 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:21059669-21800471)x1 copy number loss 22q11.2 central deletion syndrome [RCV000788069] Chr22:21059669..21800471 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21(chr22:20992308-21464764)x3 copy number gain 22q11.2 central duplication syndrome [RCV000788070] Chr22:20992308..21464764 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:20717654-21465662)x3 copy number gain not provided [RCV000848729] Chr22:20717654..21465662 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:21058887-21465659)x3 copy number gain not provided [RCV000849879] Chr22:21058887..21465659 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:20729388-21454872)x3 copy number gain 22q11.2 central duplication syndrome [RCV000788071] Chr22:20729388..21454872 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:19819477-21464764)x3 copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000788064] Chr22:19819477..21464764 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20729388-21465662)x1 copy number loss not provided [RCV000849720] Chr22:20729388..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:21033397-21465662)x3 copy number gain not provided [RCV001007172] Chr22:21033397..21465662 [GRCh37]
Chr22:22q11.21		 uncertain significance
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(chr22:18648855-21461017)x3 copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000788061] Chr22:18648855..21461017 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18937380-21459713)x3 copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000788062] Chr22:18937380..21459713 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20921342-21459713)x1 copy number loss 22q11.2 central deletion syndrome [RCV000788068] Chr22:20921342..21459713 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21(chr22:21033586-21800471)x1 copy number loss 22q11.2 central deletion syndrome [RCV000788065] Chr22:21033586..21800471 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21(chr22:20716876-21800471)x1 copy number loss 22q11.2 central deletion syndrome [RCV000788067] Chr22:20716876..21800471 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21(chr22:18844632-21797812)x1 copy number loss See cases [RCV001194550] Chr22:18844632..21797812 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20728956-21465662)x3 copy number gain not provided [RCV000845862] Chr22:20728956..21465662 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:20716876-21465659)x1 copy number loss not provided [RCV000847762] Chr22:20716876..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20732808-21465659)x3 copy number gain not provided [RCV000846336] Chr22:20732808..21465659 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18886915-21463730)x1 copy number loss See cases [RCV001194533] Chr22:18886915..21463730 [GRCh37]
Chr22:22q11.21		 pathogenic
Single allele deletion DiGeorge syndrome [RCV001003853] Chr22:18475385..23764120 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
NC_000022.11:g.18948676_21110520dup duplication Chromosome 22q11.2 microduplication syndrome [RCV003313910] Chr22:18948676..21110520 [GRCh38]
Chr22:22q11.21		 pathogenic
NM_001386814.1(AIFM3):c.593T>A (p.Leu198His) single nucleotide variant Inborn genetic diseases [RCV003275648] Chr22:20974607 [GRCh38]
Chr22:21328896 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:20728956-21465662)x3 copy number gain Oppositional defiant disorder [RCV001030055] Chr22:20728956..21465662 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:21092648-21465662)x1 copy number loss not provided [RCV002472590] Chr22:21092648..21465662 [GRCh37]
Chr22:22q11.21		 likely 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(chr22:21188487-21804597)x1 copy number loss not provided [RCV002473928] Chr22:21188487..21804597 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16888899-26483608)x3 copy number gain Cat eye syndrome [RCV001263219] Chr22:16888899..26483608 [GRCh37]
Chr22:22q11.1-12.1		 pathogenic
GRCh37/hg19 22q11.21(chr22:18889977-21463189)x3 copy number gain not provided [RCV001537921] Chr22:18889977..21463189 [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 22q11.21-11.22(chr22:21029655-22481498)x1 copy number loss not provided [RCV001007171] Chr22:21029655..22481498 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
GRCh37/hg19 22q11.21(chr22:18886915-21463730)x1 copy number loss See cases [RCV001194516] Chr22:18886915..21463730 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:21069073-21463730)x1 copy number loss See cases [RCV001194549] Chr22:21069073..21463730 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.1-11.22(chr22:16888899-22290476)x3 copy number gain not provided [RCV001007162] Chr22:16888899..22290476 [GRCh37]
Chr22:22q11.1-11.22		 pathogenic
GRCh37/hg19 22q11.21(chr22:18912403-21431174) copy number loss DiGeorge syndrome [RCV001195119] Chr22:18912403..21431174 [GRCh37]
Chr22:22q11.21		 pathogenic
Single allele deletion Inherited Immunodeficiency Diseases [RCV001027643] Chr22:18789965..21591197 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:20732808-25193541)x3 copy number gain not provided [RCV001007169] Chr22:20732808..25193541 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.21(chr22:21062168-21463730)x1 copy number loss See cases [RCV001194551] Chr22:21062168..21463730 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21(chr22:18661699-21457610)x1 copy number loss See cases [RCV001263054] Chr22:18661699..21457610 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.21(chr22:20818353-21465659)x3 copy number gain not provided [RCV001259983] Chr22:20818353..21465659 [GRCh37]
Chr22:22q11.21		 uncertain significance
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 22q11.21(chr22:21081284-21457610)x1 copy number loss See cases [RCV001263046] Chr22:21081284..21457610 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21(chr22:20754407-21457610)x1 copy number loss See cases [RCV001263048] Chr22:20754407..21457610 [GRCh37]
Chr22:22q11.21		 likely pathogenic
Single allele deletion Chromosome 22q11.2 deletion syndrome, distal [RCV003232577] Chr22:18985739..21081116 [GRCh38]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:19024656-21465662)x3 copy number gain not provided [RCV001259978] Chr22:19024656..21465662 [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(chr22:18628147-21722313)x3 copy number gain See cases [RCV001263041] Chr22:18628147..21722313 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:21075575-21454721) copy number loss Hydronephrosis [RCV001291976] Chr22:21075575..21454721 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21(chr22:18886915-21461017)x3 copy number gain Epilepsy [RCV001293650] Chr22:18886915..21461017 [GRCh37]
Chr22:22q11.21		 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
Single allele deletion Intellectual disability [RCV001293370] Chr22:18886915..21463730 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18909044-21464119) copy number gain Cryptorchidism [RCV001291958] Chr22:18909044..21464119 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18889693-21465485)x1 copy number loss not provided [RCV001537920] Chr22:18889693..21465485 [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(chr22:18889950-21466053)x1 copy number loss not provided [RCV001270642] Chr22:18889950..21466053 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18894835-21464119) copy number gain Global developmental delay [RCV001291954] Chr22:18894835..21464119 [GRCh37]
Chr22:22q11.21		 pathogenic
Single allele deletion DiGeorge syndrome [RCV001391672] Chr22:18893882..21571027 [GRCh37]
Chr22:22q11.21		 pathogenic
Single allele deletion DiGeorge syndrome [RCV001391675] Chr22:18893882..21563420 [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(chr22:18889571-21464697)x1 copy number loss not provided [RCV001537922] Chr22:18889571..21464697 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20730996-21465342)x1 copy number loss not provided [RCV001537923] Chr22:20730996..21465342 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18889969-21462658)x1 copy number loss See cases [RCV001526484] Chr22:18889969..21462658 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20737912-21465659)x3 copy number gain See cases [RCV001526487] Chr22:20737912..21465659 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18718028-21326012)x1 copy number loss See cases [RCV002246178] Chr22:18718028..21326012 [GRCh37]
Chr22:22q11.21		 pathogenic
NC_000022.11:g.18948676_21110520del deletion Velocardiofacial syndrome [RCV003318485] Chr22:18948676..21110520 [GRCh38]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18884714-21483289)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(chr22:18873001-21469900) copy number gain Cerebral palsy [RCV001796564] Chr22:18873001..21469900 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18893344-21650280) copy number loss DiGeorge syndrome [RCV002280732] Chr22:18893344..21650280 [GRCh37]
Chr22:22q11.21		 pathogenic
NC_000022.10:g.18861209_21630630del deletion Megacolon [RCV001290034] Chr22:18861209..21630630 [GRCh37]
Chr22:22q11.21		 likely pathogenic
Single allele duplication Chromosome 22q11.2 microduplication syndrome [RCV003232578] Chr22:18985739..21081116 [GRCh38]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:21059669-21804716)x1 copy number loss not provided [RCV001827632] Chr22:21059669..21804716 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21(chr22:20728957-21915096)x1 copy number loss not provided [RCV001827860] Chr22:20728957..21915096 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:21059670-21465659)x3 copy number gain not provided [RCV001834182] Chr22:21059670..21465659 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:21033398-21465659)x3 copy number gain not provided [RCV001827815] Chr22:21033398..21465659 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:20717655-21465662)x3 copy number gain not provided [RCV001827891] Chr22:20717655..21465662 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18644790-21798907) copy number loss DiGeorge syndrome [RCV002280728] Chr22:18644790..21798907 [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
Single allele deletion Velocardiofacial syndrome [RCV002247726] Chr22:18948677..21110520 [GRCh38]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18884514-21484289)x1 copy number loss See cases [RCV002246175] Chr22:18884514..21484289 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:21322233-22065138)x1 copy number loss not provided [RCV002276113] Chr22:21322233..22065138 [GRCh37]
Chr22:22q11.21		 uncertain significance
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(chr22:20732808-21465659) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV002280734] Chr22:20732808..21465659 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21(chr22:18916827-21804886) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV002280737] Chr22:18916827..21804886 [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(chr22:20732808-21465659)x1 copy number loss See cases [RCV002287641] Chr22:20732808..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18644702-21467607)x1 copy number loss Syndromic anorectal malformation [RCV002286606] Chr22:18644702..21467607 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18893888-21414817)x1 copy number loss not provided [RCV002276112] Chr22:18893888..21414817 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21465659)x1 copy number loss See cases [RCV002292204] Chr22:18916842..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20732808-21800471)x1 copy number loss See cases [RCV002287834] Chr22:20732808..21800471 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18893888-21414817)x3 copy number gain not provided [RCV002293073] Chr22:18893888..21414817 [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(chr22:18644542-21465659)x1 copy number loss See cases [RCV002287573] Chr22:18644542..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20725308-21465659)x1 copy number loss See cases [RCV002292208] Chr22:20725308..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20310410-21804886)x1 copy number loss See cases [RCV002286345] Chr22:20310410..21804886 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18645353-21800797) copy number loss DiGeorge syndrome [RCV002280727] Chr22:18645353..21800797 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21798907) copy number loss DiGeorge syndrome [RCV002280729] Chr22:18916842..21798907 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21800471) copy number loss DiGeorge syndrome [RCV002280730] Chr22:18644790..21800471 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18917047-21465659) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV002280735] Chr22:18917047..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
Single allele duplication not provided [RCV002266809] Chr22:20697728..21129998 [GRCh38]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18916843-21465659)x1 copy number loss not provided [RCV002474586] Chr22:18916843..21465659 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20716877-21465659)x1 copy number loss not provided [RCV002474587] Chr22:20716877..21465659 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21(chr22:18648867-21798907)x3 copy number gain not provided [RCV002473937] Chr22:18648867..21798907 [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(chr22:18916843-21800471)x1 copy number loss not provided [RCV002472532] Chr22:18916843..21800471 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:21062134-21465662)x3 copy number gain not provided [RCV002474713] Chr22:21062134..21465662 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18916843-21915509)x1 copy number loss not provided [RCV002473950] Chr22:18916843..21915509 [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(chr22:20728957-21798907)x1 copy number loss not provided [RCV002472521] Chr22:20728957..21798907 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20725318-21800797)x1 copy number loss not provided [RCV002474535] Chr22:20725318..21800797 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21(chr22:21049800-21465662)x1 copy number loss not provided [RCV002474517] Chr22:21049800..21465662 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20725309-21804563)x1 copy number loss not provided [RCV002472527] Chr22:20725309..21804563 [GRCh37]
Chr22:22q11.21		 likely pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21029656-22485776)x3 copy number gain not provided [RCV002473924] Chr22:21029656..22485776 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
GRCh37/hg19 22q11.21(chr22:18644543-21800797)x1 copy number loss not provided [RCV002473959] Chr22:18644543..21800797 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18916843-21804563)x3 copy number gain not provided [RCV002472525] Chr22:18916843..21804563 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:20728957-21800797)x1 copy number loss not provided [RCV002472554] Chr22:20728957..21800797 [GRCh37]
Chr22:22q11.21		 likely pathogenic
NM_001386814.1(AIFM3):c.1588G>A (p.Gly530Ser) single nucleotide variant Inborn genetic diseases [RCV002945587] Chr22:20979638 [GRCh38]
Chr22:21333927 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_001386814.1(AIFM3):c.1222A>G (p.Lys408Glu) single nucleotide variant Inborn genetic diseases [RCV002749821] Chr22:20977035 [GRCh38]
Chr22:21331324 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18894078-21414817)x1 copy number loss not provided [RCV002512212] Chr22:18894078..21414817 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_001386814.1(AIFM3):c.715A>T (p.Ser239Cys) single nucleotide variant Inborn genetic diseases [RCV002841729] Chr22:20974811 [GRCh38]
Chr22:21329100 [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
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(chr22:19184000-21416024)x1 copy number loss not provided [RCV002512213] Chr22:19184000..21416024 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_001386814.1(AIFM3):c.83A>C (p.Glu28Ala) single nucleotide variant Inborn genetic diseases [RCV002826962] Chr22:20973358 [GRCh38]
Chr22:21327647 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_001386814.1(AIFM3):c.313C>G (p.Leu105Val) single nucleotide variant Inborn genetic diseases [RCV002984206] Chr22:20973825 [GRCh38]
Chr22:21328114 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:21119425-21431174)x3 copy number gain not provided [RCV002509022] Chr22:21119425..21431174 [GRCh37]
Chr22:22q11.21		 not provided
NM_001386814.1(AIFM3):c.89C>T (p.Ser30Leu) single nucleotide variant Inborn genetic diseases [RCV002641137] Chr22:20973364 [GRCh38]
Chr22:21327653 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_001386814.1(AIFM3):c.686G>A (p.Arg229Gln) single nucleotide variant Inborn genetic diseases [RCV002804791] Chr22:20974782 [GRCh38]
Chr22:21329071 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_001386814.1(AIFM3):c.1580A>G (p.Tyr527Cys) single nucleotide variant Inborn genetic diseases [RCV002709824] Chr22:20979630 [GRCh38]
Chr22:21333919 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_001386814.1(AIFM3):c.911T>A (p.Leu304Gln) single nucleotide variant Inborn genetic diseases [RCV002988307] Chr22:20976419 [GRCh38]
Chr22:21330708 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_001386814.1(AIFM3):c.310G>T (p.Ala104Ser) single nucleotide variant Inborn genetic diseases [RCV002813158] Chr22:20973822 [GRCh38]
Chr22:21328111 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_001386814.1(AIFM3):c.1693C>A (p.Pro565Thr) single nucleotide variant Inborn genetic diseases [RCV002670157] Chr22:20980060 [GRCh38]
Chr22:21334349 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_001386814.1(AIFM3):c.1558A>G (p.Lys520Glu) single nucleotide variant Inborn genetic diseases [RCV002770042] Chr22:20979351 [GRCh38]
Chr22:21333640 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_001386814.1(AIFM3):c.1582G>A (p.Gly528Arg) single nucleotide variant Inborn genetic diseases [RCV002936251] Chr22:20979632 [GRCh38]
Chr22:21333921 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_001386814.1(AIFM3):c.1178T>G (p.Met393Arg) single nucleotide variant Inborn genetic diseases [RCV002920587] Chr22:20976898 [GRCh38]
Chr22:21331187 [GRCh37]
Chr22:22q11.21		 uncertain significance
Single allele deletion See cases [RCV003154622] Chr22:18893886..21386103 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_001386814.1(AIFM3):c.1546G>A (p.Ala516Thr) single nucleotide variant Inborn genetic diseases [RCV003256450] Chr22:20979339 [GRCh38]
Chr22:21333628 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.21(chr22:20354589-21405291) copy number loss 22q11.2 central deletion syndrome [RCV003223565] Chr22:20354589..21405291 [GRCh38]
Chr22:22q11.21		 uncertain significance
NM_001386814.1(AIFM3):c.628G>A (p.Ala210Thr) single nucleotide variant Inborn genetic diseases [RCV003198813] Chr22:20974724 [GRCh38]
Chr22:21329013 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_001386814.1(AIFM3):c.1097C>T (p.Thr366Met) single nucleotide variant Inborn genetic diseases [RCV003172810] Chr22:20976717 [GRCh38]
Chr22:21331006 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_001386814.1(AIFM3):c.367C>T (p.Arg123Cys) single nucleotide variant Inborn genetic diseases [RCV003260736] Chr22:20974074 [GRCh38]
Chr22:21328363 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_001386814.1(AIFM3):c.322A>G (p.Lys108Glu) single nucleotide variant Inborn genetic diseases [RCV003304045] Chr22:20973834 [GRCh38]
Chr22:21328123 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_001386814.1(AIFM3):c.1094A>T (p.Glu365Val) single nucleotide variant Inborn genetic diseases [RCV003338243] Chr22:20976714 [GRCh38]
Chr22:21331003 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:20609932-21576553)x1 copy number loss Chromosome 22q11.2 deletion syndrome, distal [RCV003329503] Chr22:20609932..21576553 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18985739-21081116)x1 copy number loss DiGeorge syndrome [RCV003327705] Chr22:18985739..21081116 [GRCh38]
Chr22:22q11.21		 pathogenic
GRCh37/hg19 22q11.21(chr22:18893838-21416074)x3 copy number gain Chromosome 22q11.2 deletion syndrome, distal [RCV003329514]|Velocardiofacial syndrome [RCV003329513] Chr22:18893838..21416074 [GRCh37]
Chr22:22q11.21		 pathogenic
NM_001386814.1(AIFM3):c.1177A>G (p.Met393Val) single nucleotide variant Inborn genetic diseases [RCV003369315] Chr22:20976897 [GRCh38]
Chr22:21331186 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_001386814.1(AIFM3):c.584C>T (p.Thr195Ile) single nucleotide variant Inborn genetic diseases [RCV003371063] Chr22:20974598 [GRCh38]
Chr22:21328887 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_001386814.1(AIFM3):c.161G>T (p.Arg54Leu) single nucleotide variant Inborn genetic diseases [RCV003385081] Chr22:20973436 [GRCh38]
Chr22:21327725 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21(chr22:18893888-21563415)x1 copy number loss not provided [RCV003457105] Chr22:18893888..21563415 [GRCh37]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18856290-21070117)x3 copy number gain Microcephaly-digital anomalies-intellectual disability syndrome [RCV003444168] Chr22:18856290..21070117 [GRCh38]
Chr22:22q11.21		 pathogenic
NM_001386814.1(AIFM3):c.951C>T (p.Ile317=) single nucleotide variant not provided [RCV003431658] Chr22:20976459 [GRCh38]
Chr22:21330748 [GRCh37]
Chr22:22q11.21		 likely benign
GRCh37/hg19 22q11.21(chr22:21061979-21418457)x3 copy number gain not provided [RCV003885496] Chr22:21061979..21418457 [GRCh37]
Chr22:22q11.21		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR210hsa-miR-210-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22387901
MIR210hsa-miR-210-3pOncomiRDBexternal_infoNANA22387901

Predicted Target Of
Summary Value
Count of predictions:6322
Count of miRNA genes:975
Interacting mature miRNAs:1223
Transcripts:ENST00000333607, ENST00000335375, ENST00000399163, ENST00000399167, ENST00000405089, ENST00000417515, ENST00000426113, ENST00000434714, ENST00000440238, ENST00000441376, ENST00000465606, ENST00000467926, ENST00000468124, ENST00000472575, ENST00000479523, ENST00000483107, ENST00000484206, ENST00000486003, ENST00000495869, ENST00000496097
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 372 108 4 7 4 2713 3 8 12
Low 1788 1632 1335 401 1315 249 2166 880 920 330 1327 1449 164 1 1039 1072 1
Below cutoff 267 1337 273 213 513 207 2161 1281 92 77 107 132 8 165 1699 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001018060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001146288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_144704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_027464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC002470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY927574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY927594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ028401 (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
  CR456342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA396585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB172173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000399163   ⟹   ENSP00000382116
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,965,163 - 20,981,358 (+)Ensembl
RefSeq Acc Id: ENST00000399167   ⟹   ENSP00000382120
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,965,108 - 20,981,360 (+)Ensembl
RefSeq Acc Id: ENST00000405089   ⟹   ENSP00000385800
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,967,255 - 20,981,360 (+)Ensembl
RefSeq Acc Id: ENST00000417515   ⟹   ENSP00000412973
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,965,167 - 20,974,814 (+)Ensembl
RefSeq Acc Id: ENST00000426113   ⟹   ENSP00000406989
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,967,248 - 20,974,096 (+)Ensembl
RefSeq Acc Id: ENST00000434714   ⟹   ENSP00000399657
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,967,231 - 20,981,319 (+)Ensembl
RefSeq Acc Id: ENST00000440238   ⟹   ENSP00000390798
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,967,255 - 20,981,358 (+)Ensembl
RefSeq Acc Id: ENST00000441376   ⟹   ENSP00000402067
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,965,172 - 20,974,096 (+)Ensembl
RefSeq Acc Id: ENST00000465606
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,974,513 - 20,981,348 (+)Ensembl
RefSeq Acc Id: ENST00000467926
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,965,172 - 20,973,645 (+)Ensembl
RefSeq Acc Id: ENST00000468124
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,967,249 - 20,974,297 (+)Ensembl
RefSeq Acc Id: ENST00000472575
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,965,177 - 20,973,619 (+)Ensembl
RefSeq Acc Id: ENST00000479523
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,965,177 - 20,967,036 (+)Ensembl
RefSeq Acc Id: ENST00000483107
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,975,692 - 20,981,356 (+)Ensembl
RefSeq Acc Id: ENST00000484206
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,967,255 - 20,973,678 (+)Ensembl
RefSeq Acc Id: ENST00000486003
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,976,873 - 20,981,355 (+)Ensembl
RefSeq Acc Id: ENST00000495869
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,965,268 - 20,966,798 (+)Ensembl
RefSeq Acc Id: ENST00000496097
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,967,263 - 20,974,267 (+)Ensembl
RefSeq Acc Id: ENST00000683034   ⟹   ENSP00000507958
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,967,255 - 20,981,315 (+)Ensembl
RefSeq Acc Id: NM_001018060   ⟹   NP_001018070
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,965,172 - 20,981,358 (+)NCBI
GRCh372221,319,418 - 21,335,649 (+)RGD
Build 362219,649,451 - 19,665,647 (+)NCBI Archive
Celera224,810,763 - 4,826,996 (+)RGD
HuRef224,589,741 - 4,603,945 (+)ENTREZGENE
CHM1_12221,319,619 - 21,335,846 (+)NCBI
T2T-CHM13v2.02221,373,992 - 21,390,168 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001146288   ⟹   NP_001139760
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,967,255 - 20,981,358 (+)NCBI
GRCh372221,319,418 - 21,335,649 (+)RGD
Celera224,810,763 - 4,826,996 (+)RGD
HuRef224,589,741 - 4,603,945 (+)ENTREZGENE
CHM1_12221,321,640 - 21,335,846 (+)NCBI
T2T-CHM13v2.02221,376,064 - 21,390,168 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386814   ⟹   NP_001373743
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,967,255 - 20,981,358 (+)NCBI
T2T-CHM13v2.02221,376,064 - 21,390,168 (+)NCBI
Sequence:
RefSeq Acc Id: NM_144704   ⟹   NP_653305
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,965,172 - 20,981,358 (+)NCBI
GRCh372221,319,418 - 21,335,649 (+)RGD
Build 362219,649,434 - 19,665,649 (+)NCBI Archive
Celera224,810,763 - 4,826,996 (+)RGD
HuRef224,589,741 - 4,603,945 (+)ENTREZGENE
CHM1_12221,319,619 - 21,335,846 (+)NCBI
T2T-CHM13v2.02221,373,992 - 21,390,168 (+)NCBI
Sequence:
RefSeq Acc Id: NR_027464
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,967,255 - 20,981,358 (+)NCBI
GRCh372221,319,418 - 21,335,649 (+)RGD
Celera224,810,763 - 4,826,996 (+)RGD
HuRef224,589,741 - 4,603,945 (+)ENTREZGENE
CHM1_12221,321,640 - 21,335,846 (+)NCBI
T2T-CHM13v2.02221,376,064 - 21,390,168 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001139760   ⟸   NM_001146288
- Peptide Label: isoform 3
- UniProtKB: C9K029 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_653305   ⟸   NM_144704
- Peptide Label: isoform 1
- UniProtKB: Q8N1V3 (UniProtKB/Swiss-Prot),   Q6ZT44 (UniProtKB/Swiss-Prot),   D3DX38 (UniProtKB/Swiss-Prot),   D3DX37 (UniProtKB/Swiss-Prot),   B7WP37 (UniProtKB/Swiss-Prot),   Q8N5E0 (UniProtKB/Swiss-Prot),   Q96NN9 (UniProtKB/Swiss-Prot),   C9K029 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001018070   ⟸   NM_001018060
- Peptide Label: isoform 2
- UniProtKB: C9K029 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000382116   ⟸   ENST00000399163
RefSeq Acc Id: ENSP00000382120   ⟸   ENST00000399167
RefSeq Acc Id: ENSP00000406989   ⟸   ENST00000426113
RefSeq Acc Id: ENSP00000390798   ⟸   ENST00000440238
RefSeq Acc Id: ENSP00000402067   ⟸   ENST00000441376
RefSeq Acc Id: ENSP00000412973   ⟸   ENST00000417515
RefSeq Acc Id: ENSP00000385800   ⟸   ENST00000405089
RefSeq Acc Id: ENSP00000399657   ⟸   ENST00000434714
RefSeq Acc Id: NP_001373743   ⟸   NM_001386814
- Peptide Label: isoform 1
- UniProtKB: Q96NN9 (UniProtKB/Swiss-Prot),   Q8N1V3 (UniProtKB/Swiss-Prot),   Q6ZT44 (UniProtKB/Swiss-Prot),   D3DX38 (UniProtKB/Swiss-Prot),   D3DX37 (UniProtKB/Swiss-Prot),   B7WP37 (UniProtKB/Swiss-Prot),   Q8N5E0 (UniProtKB/Swiss-Prot),   C9K029 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000507958   ⟸   ENST00000683034
Protein Domains
Rieske

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96NN9-F1-model_v2 AlphaFold Q96NN9 1-605 view protein structure

Promoters
RGD ID:6815420
Promoter ID:HG_MRA:10349
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:AY927594
Position:
Human AssemblyChrPosition (strand)Source
Build 362219,664,646 - 19,665,146 (-)MPROMDB
RGD ID:13603296
Promoter ID:EPDNEW_H27832
Type:initiation region
Name:AIFM3_1
Description:apoptosis inducing factor, mitochondria associated 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27833  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,965,172 - 20,965,232EPDNEW
RGD ID:13603300
Promoter ID:EPDNEW_H27833
Type:initiation region
Name:AIFM3_2
Description:apoptosis inducing factor, mitochondria associated 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27832  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,967,255 - 20,967,315EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26398 AgrOrtholog
COSMIC AIFM3 COSMIC
Ensembl Genes ENSG00000183773 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000399163 ENTREZGENE
  ENST00000399163.6 UniProtKB/Swiss-Prot
  ENST00000399167 ENTREZGENE
  ENST00000399167.6 UniProtKB/Swiss-Prot
  ENST00000405089 ENTREZGENE
  ENST00000405089.5 UniProtKB/Swiss-Prot
  ENST00000417515.5 UniProtKB/TrEMBL
  ENST00000426113.5 UniProtKB/TrEMBL
  ENST00000434714.6 UniProtKB/TrEMBL
  ENST00000440238 ENTREZGENE
  ENST00000440238.4 UniProtKB/Swiss-Prot
  ENST00000441376.6 UniProtKB/TrEMBL
  ENST00000683034.1 UniProtKB/Swiss-Prot
Gene3D-CATH 2.102.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.390.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.50.50.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000183773 GTEx
HGNC ID HGNC:26398 ENTREZGENE
Human Proteome Map AIFM3 Human Proteome Map
InterPro FAD/NAD-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAD/NAD-binding_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAD/NAD-linked_Rdtase_dimer_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Reductase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rieske_2Fe-2S UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rieske_2Fe-2S_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:150209 UniProtKB/Swiss-Prot
NCBI Gene 150209 ENTREZGENE
OMIM 617298 OMIM
PANTHER APOPTOSIS-INDUCING FACTOR 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  APOPTOSIS-INDUCING FACTOR 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Pyr_redox_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Reductase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rieske UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162376173 PharmGKB
PRINTS FADPNR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PNDRDTASEII UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE RIESKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50022 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF51905 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55424 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt AIFM3_HUMAN UniProtKB/Swiss-Prot
  B7WP37 ENTREZGENE
  B7Z376_HUMAN UniProtKB/TrEMBL
  C9JPU8_HUMAN UniProtKB/TrEMBL
  C9K029 ENTREZGENE, UniProtKB/TrEMBL
  D3DX37 ENTREZGENE
  D3DX38 ENTREZGENE
  F8WC30_HUMAN UniProtKB/TrEMBL
  F8WFB6_HUMAN UniProtKB/TrEMBL
  Q6ZT44 ENTREZGENE
  Q8N1V3 ENTREZGENE
  Q8N5E0 ENTREZGENE
  Q96NN9 ENTREZGENE
UniProt Secondary B7WP37 UniProtKB/Swiss-Prot
  D3DX37 UniProtKB/Swiss-Prot
  D3DX38 UniProtKB/Swiss-Prot
  Q6ZT44 UniProtKB/Swiss-Prot
  Q8N1V3 UniProtKB/Swiss-Prot
  Q8N5E0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-22 AIFM3  apoptosis inducing factor mitochondria associated 3    apoptosis inducing factor, mitochondria associated 3  Symbol and/or name change 5135510 APPROVED
2015-11-24 AIFM3  apoptosis inducing factor, mitochondria associated 3    apoptosis-inducing factor, mitochondrion-associated, 3  Symbol and/or name change 5135510 APPROVED