TANGO2 (transport and golgi organization 2 homolog) - Rat Genome Database

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Gene: TANGO2 (transport and golgi organization 2 homolog) Homo sapiens
Analyze
Symbol: TANGO2
Name: transport and golgi organization 2 homolog
RGD ID: 1606461
HGNC Page HGNC:25439
Description: Predicted to be involved in Golgi organization and protein secretion. Located in Golgi apparatus; cytosol; and mitochondrion. Implicated in TANGO2-related metabolic encephalopathy and arrythmias.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C22orf25; DKFZp761P1121; hypothetical protein LOC128989; MECRCN; transport and Golgi organization protein 2 homolog; uncharacterized protein C22orf25
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
GRCh382220,017,023 - 20,067,164 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2220,017,014 - 20,067,164 (+)EnsemblGRCh38hg38GRCh38
GRCh372220,004,546 - 20,054,687 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362218,388,631 - 18,433,447 (+)NCBINCBI36Build 36hg18NCBI36
Celera223,859,834 - 3,904,651 (+)NCBICelera
Cytogenetic Map22q11.21NCBI
HuRef223,629,293 - 3,673,868 (+)NCBIHuRef
CHM1_12220,008,340 - 20,053,153 (+)NCBICHM1_1
T2T-CHM13v2.02220,394,641 - 20,444,782 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Biological Process

Cellular Component
cytoplasm  (IDA,IEA)
cytosol  (IDA)
Golgi apparatus  (IBA,IDA,IEA)
mitochondrion  (IDA,IEA,ISS)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal bleeding  (IAGP)
Abnormal EKG  (IAGP)
Abnormality of extrapyramidal motor function  (IAGP)
Abnormality of metabolism/homeostasis  (IAGP)
Absent speech  (IAGP)
Acute rhabdomyolysis  (IAGP)
Aganglionic megacolon  (IAGP)
Amblyopia  (IAGP)
Arrhythmia  (IAGP)
Ataxia  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Autosomal recessive inheritance  (IAGP)
Babinski sign  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Cardiac arrest  (IAGP)
Cerebral atrophy  (IAGP)
Cerebral visual impairment  (IAGP)
Clonus  (IAGP)
Compensated hypothyroidism  (IAGP)
Deep venous thrombosis  (IAGP)
Delayed ability to walk  (IAGP)
Delayed speech and language development  (IAGP)
Developmental regression  (IAGP)
Drooling  (IAGP)
Dysarthria  (IAGP)
Dysphagia  (IAGP)
Dystonia  (IAGP)
Elevated circulating acylcarnitine concentration  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
EMG: myopathic abnormalities  (IAGP)
Episodic flaccid weakness  (IAGP)
Feeding difficulties in infancy  (IAGP)
Focal impaired awareness seizure  (IAGP)
Gait ataxia  (IAGP)
Gait disturbance  (IAGP)
Gastrointestinal dysmotility  (IAGP)
Generalized hypotonia  (IAGP)
Generalized myoclonic seizure  (IAGP)
Generalized tonic seizure  (IAGP)
Global brain atrophy  (IAGP)
Global developmental delay  (IAGP)
Hyperactive deep tendon reflexes  (IAGP)
Hyperammonemia  (IAGP)
Hyperreflexia  (IAGP)
Hypertonia  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypoglycemia  (IAGP)
Hypoglycemic seizures  (IAGP)
Hypothyroidism  (IAGP)
Incoordination  (IAGP)
Increased circulating lactate concentration  (IAGP)
Infantile spasms  (IAGP)
Intellectual disability  (IAGP)
Involuntary movements  (IAGP)
Ketonuria  (IAGP)
Lactic acidosis  (IAGP)
Metabolic acidosis  (IAGP)
Microcephaly  (IAGP)
Mild global developmental delay  (IAGP)
Moderate global developmental delay  (IAGP)
Multifocal seizures  (IAGP)
Muscle weakness  (IAGP)
Myoglobinuria  (IAGP)
Myopathic facies  (IAGP)
Neurodegeneration  (IAGP)
Nystagmus  (IAGP)
Optic atrophy  (IAGP)
Oral-pharyngeal dysphagia  (IAGP)
Poor coordination  (IAGP)
Premature pubarche  (IAGP)
Premature thelarche  (IAGP)
Prolonged QT interval  (IAGP)
Prolonged QTc interval  (IAGP)
Rhabdomyolysis  (IAGP)
Schizophrenia  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe global developmental delay  (IAGP)
Spastic diplegia  (IAGP)
Spastic tetraplegia  (IAGP)
Stroke  (IAGP)
Supranuclear gaze palsy  (IAGP)
Torsade de pointes  (IAGP)
Ventricular fibrillation  (IAGP)
Ventricular tachycardia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7566098   PMID:12107413   PMID:12477932   PMID:14702039   PMID:15342556   PMID:15461802   PMID:15489334   PMID:16344560   PMID:18775783   PMID:19322201   PMID:21873635   PMID:22939629  
PMID:26186194   PMID:26344197   PMID:26805781   PMID:26805782   PMID:28514442   PMID:28611215   PMID:28986522   PMID:29369572   PMID:29791485   PMID:30245509   PMID:31276219   PMID:31339582  
PMID:32909282   PMID:32929747   PMID:33342685   PMID:33961781   PMID:34048709   PMID:34668327   PMID:35197517   PMID:35831314   PMID:36961129   PMID:37721116  


Genomics

Comparative Map Data
TANGO2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382220,017,023 - 20,067,164 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2220,017,014 - 20,067,164 (+)EnsemblGRCh38hg38GRCh38
GRCh372220,004,546 - 20,054,687 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362218,388,631 - 18,433,447 (+)NCBINCBI36Build 36hg18NCBI36
Celera223,859,834 - 3,904,651 (+)NCBICelera
Cytogenetic Map22q11.21NCBI
HuRef223,629,293 - 3,673,868 (+)NCBIHuRef
CHM1_12220,008,340 - 20,053,153 (+)NCBICHM1_1
T2T-CHM13v2.02220,394,641 - 20,444,782 (+)NCBIT2T-CHM13v2.0
Tango2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Build 341157,072,134 - 157,126,528NCBI
GRCm391618,118,689 - 18,165,962 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1618,118,689 - 18,165,967 (-)EnsemblGRCm39 Ensembl
GRCm381618,300,825 - 18,348,098 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1618,300,825 - 18,348,103 (-)EnsemblGRCm38mm10GRCm38
MGSCv371618,300,918 - 18,344,025 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361618,214,388 - 18,238,008 (-)NCBIMGSCv36mm8
Celera1618,873,570 - 18,916,677 (-)NCBICelera
Cytogenetic Map16A3NCBI
cM Map1611.34NCBI
Tango2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81196,150,292 - 96,196,883 (+)NCBIGRCr8
mRatBN7.21182,645,978 - 82,692,574 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1182,645,974 - 82,692,574 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1191,377,966 - 91,420,961 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01184,039,194 - 84,082,189 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01183,092,706 - 83,135,702 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01186,793,959 - 86,840,556 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1186,797,557 - 86,840,573 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01189,887,900 - 89,934,494 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41184,643,644 - 84,686,639 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11184,702,391 - 84,727,234 (+)NCBI
Celera1181,426,587 - 81,469,582 (+)NCBICelera
Cytogenetic Map11q23NCBI
Tango2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544218,036,477 - 18,074,213 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544218,036,477 - 18,074,036 (-)NCBIChiLan1.0ChiLan1.0
TANGO2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22329,645,067 - 29,694,816 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12232,192,466 - 32,241,711 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0222,779,217 - 2,826,445 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12218,449,381 - 18,497,886 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2218,449,387 - 18,497,886 (+)Ensemblpanpan1.1panPan2
TANGO2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12629,265,489 - 29,303,814 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2629,266,256 - 29,304,164 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2629,224,376 - 29,262,736 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02630,669,587 - 30,707,941 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2630,669,585 - 30,707,909 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12628,717,451 - 28,755,795 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02628,342,814 - 28,381,158 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02629,427,808 - 29,466,174 (-)NCBIUU_Cfam_GSD_1.0
Tango2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118138,780,367 - 138,819,275 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366193,934,314 - 3,975,240 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366193,934,791 - 3,973,695 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TANGO2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1451,443,638 - 51,464,367 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11451,443,597 - 51,464,370 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21455,080,233 - 55,100,997 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TANGO2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1195,672,758 - 5,717,574 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl195,672,180 - 5,701,361 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660851,211,121 - 1,263,900 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tango2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624747647,571 - 686,870 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TANGO2
289 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 22q11.21(chr22:18894835-21464119) copy number gain Global developmental delay [RCV001291954] Chr22:18894835..21464119 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18915347-21463730)x1 copy number loss VATER association [RCV000520380] Chr22:18915347..21463730 [GRCh37]
Chr22:22q11.21
likely pathogenic
NM_152906.7(TANGO2):c.149T>C (p.Leu50Pro) single nucleotide variant not provided [RCV000521489] Chr22:20052468 [GRCh38]
Chr22:20039991 [GRCh37]
Chr22:22q11.21
likely pathogenic|conflicting interpretations of pathogenicity
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 copy number gain See cases [RCV000050271] Chr22:18339130..21207225 [GRCh38]
Chr22:18919942..21561514 [GRCh37]
Chr22:17299942..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x1 copy number loss See cases [RCV000050273] Chr22:18339130..21207225 [GRCh38]
Chr22:18919942..21561514 [GRCh37]
Chr22:17299942..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20671425)x1 copy number loss See cases [RCV000050290] Chr22:18339130..20671425 [GRCh38]
Chr22:18706001..21025713 [GRCh37]
Chr22:17086001..19355713 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 copy number gain See cases [RCV000050991] Chr22:18339130..21086225 [GRCh38]
Chr22:18919942..21440514 [GRCh37]
Chr22:17299942..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 copy number loss See cases [RCV000050992] Chr22:18339130..21086225 [GRCh38]
Chr22:18919942..21440514 [GRCh37]
Chr22:17299942..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20324240)x3 copy number gain See cases [RCV000050858] Chr22:16916608..20324240 [GRCh38]
Chr22:17397498..20311763 [GRCh37]
Chr22:15777498..18691763 [NCBI36]
Chr22:22q11.1-11.21
pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20324240)x1 copy number loss See cases [RCV000050859] Chr22:16916608..20324240 [GRCh38]
Chr22:17397498..20311763 [GRCh37]
Chr22:15777498..18691763 [NCBI36]
Chr22:22q11.1-11.21
pathogenic
GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3 copy number gain See cases [RCV000050768] Chr22:18178957..31821193 [GRCh38]
Chr22:18661724..32217179 [GRCh37]
Chr22:17041724..30547179 [NCBI36]
Chr22:22q11.21-12.3
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss See cases [RCV000050550] Chr22:18339130..21151128 [GRCh38]
Chr22:18706001..21505417 [GRCh37]
Chr22:17086001..19835417 [NCBI36]
Chr22:22q11.21
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 22q11.1-11.21(chr22:16916608-21151128)x3 copy number gain See cases [RCV000050614] Chr22:16916608..21151128 [GRCh38]
Chr22:17397498..21505417 [GRCh37]
Chr22:15777498..19835417 [NCBI36]
Chr22:22q11.1-11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050729]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050729]|See cases [RCV000050729] Chr22:18339130..20343532 [GRCh38]
Chr22:18919942..20659606 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3 copy number gain See cases [RCV000050628] Chr22:18339130..21454720 [GRCh38]
Chr22:18919942..21809009 [GRCh37]
Chr22:17299942..20139009 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3 copy number gain See cases [RCV000050387] Chr22:18339130..21151128 [GRCh38]
Chr22:18919942..21505417 [GRCh37]
Chr22:17299942..19835417 [NCBI36]
Chr22:22q11.21
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18339130-21454720)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 22q11.1-11.21(chr22:16538125-20363937)x1 copy number loss See cases [RCV000051270] Chr22:16538125..20363937 [GRCh38]
Chr22:17019015..20718227 [GRCh37]
Chr22:15399015..19048227 [NCBI36]
Chr22:22q11.1-11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18145052-21086366)x1 copy number loss See cases [RCV000051271] Chr22:18145052..21086366 [GRCh38]
Chr22:18627819..21440655 [GRCh37]
Chr22:17007819..19770655 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18145252-21151128)x1 copy number loss See cases [RCV000051272] Chr22:18145252..21151128 [GRCh38]
Chr22:18628019..21505417 [GRCh37]
Chr22:17008019..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18167908-21101267)x3 copy number gain See cases [RCV000051273] Chr22:18167908..21101267 [GRCh38]
Chr22:18650675..21455556 [GRCh37]
Chr22:17030675..19785556 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18167908-21101267)x1 copy number loss See cases [RCV000051275] Chr22:18167908..21101267 [GRCh38]
Chr22:18650675..21455556 [GRCh37]
Chr22:17030675..19785556 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18177786-21101267)x3 copy number gain See cases [RCV000051276] Chr22:18177786..21101267 [GRCh38]
Chr22:18660553..21455556 [GRCh37]
Chr22:17040553..19785556 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18177786-21101267)x1 copy number loss See cases [RCV000051278] Chr22:18177786..21101267 [GRCh38]
Chr22:18660553..21455556 [GRCh37]
Chr22:17040553..19785556 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21086225)x1 copy number loss See cases [RCV000051283] Chr22:18178957..21086225 [GRCh38]
Chr22:18661724..21440514 [GRCh37]
Chr22:17041724..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18188862-21182552)x1 copy number loss See cases [RCV000051286] Chr22:18188862..21182552 [GRCh38]
Chr22:18671629..21536841 [GRCh37]
Chr22:17051629..19866841 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151269)x1 copy number loss See cases [RCV000051295] Chr22:18339130..21151269 [GRCh38]
Chr22:18705801..21505558 [GRCh37]
Chr22:17085801..19835558 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086366)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051296]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051296]|See cases [RCV000051296] Chr22:18339130..21086366 [GRCh38]
Chr22:18705801..21440655 [GRCh37]
Chr22:17085801..19770655 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1 copy number loss See cases [RCV000051297] Chr22:18339130..20343532 [GRCh38]
Chr22:18706001..20659606 [GRCh37]
Chr22:17086001..18989606 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x1 copy number loss See cases [RCV000051298] Chr22:18339130..21454720 [GRCh38]
Chr22:18706001..21809009 [GRCh37]
Chr22:17086001..20139009 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18886943-20318794)x1 copy number loss See cases [RCV000051299] Chr22:18886943..20318794 [GRCh38]
Chr22:18874456..20306317 [GRCh37]
Chr22:17254456..18686317 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18902758-20340590)x1 copy number loss See cases [RCV000051300] Chr22:18902758..20340590 [GRCh38]
Chr22:18890271..20328113 [GRCh37]
Chr22:17270271..18708113 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21107522)x1 copy number loss See cases [RCV000051301] Chr22:18339130..21107522 [GRCh38]
Chr22:18890271..21461811 [GRCh37]
Chr22:17270271..19791811 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1 copy number loss See cases [RCV000051319] Chr22:18339130..20343532 [GRCh38]
Chr22:18890271..20659606 [GRCh37]
Chr22:17270271..18989606 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21040441)x1 copy number loss See cases [RCV000051321] Chr22:18339130..21040441 [GRCh38]
Chr22:18890271..21394730 [GRCh37]
Chr22:17270271..19724730 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 copy number gain See cases [RCV000051323] Chr22:18339130..21086225 [GRCh38]
Chr22:18896972..21440514 [GRCh37]
Chr22:17276972..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 copy number loss See cases [RCV000051324] Chr22:18339130..21086225 [GRCh38]
Chr22:18896972..21440514 [GRCh37]
Chr22:17276972..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086366)x1 copy number loss See cases [RCV000051325] Chr22:18339130..21086366 [GRCh38]
Chr22:18919742..21440655 [GRCh37]
Chr22:17299742..19770655 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20671566)x1 copy number loss See cases [RCV000051327] Chr22:18339130..20671566 [GRCh38]
Chr22:18919742..21025854 [GRCh37]
Chr22:17299742..19355854 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151269)x1 copy number loss See cases [RCV000051328] Chr22:18339130..21151269 [GRCh38]
Chr22:18919742..21505558 [GRCh37]
Chr22:17299742..19835558 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051023]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051023]|See cases [RCV000051023] Chr22:18339130..21086225 [GRCh38]
Chr22:18706001..21440514 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 copy number loss See cases [RCV000051024] Chr22:18339130..21086225 [GRCh38]
Chr22:18706001..21440514 [GRCh37]
Chr22:17086001..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20354644)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051035]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051035]|See cases [RCV000051035] Chr22:18339130..20354644 [GRCh38]
Chr22:18919942..20708934 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-20324240)x3 copy number gain See cases [RCV000051158] Chr22:18178957..20324240 [GRCh38]
Chr22:18661724..20311763 [GRCh37]
Chr22:17041724..18691763 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21151128)x3 copy number gain See cases [RCV000051170] Chr22:18178957..21151128 [GRCh38]
Chr22:18661724..21505417 [GRCh37]
Chr22:17041724..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21151128)x1 copy number loss See cases [RCV000051171] Chr22:18178957..21151128 [GRCh38]
Chr22:18661724..21505417 [GRCh37]
Chr22:17041724..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x3 copy number gain See cases [RCV000051942] Chr22:18339130..21101267 [GRCh38]
Chr22:18950766..21455556 [GRCh37]
Chr22:17330766..19785556 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20588575)x3 copy number gain See cases [RCV000051943] Chr22:18339130..20588575 [GRCh38]
Chr22:19168758..20942862 [GRCh37]
Chr22:17519027..19272862 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18169870-21559889)x3 copy number gain See cases [RCV000051918] Chr22:18169870..21559889 [GRCh38]
Chr22:18652637..21914178 [GRCh37]
Chr22:17032637..20244178 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21056995)x3 copy number gain See cases [RCV000051919] Chr22:18339130..21056995 [GRCh38]
Chr22:18704554..21411284 [GRCh37]
Chr22:17084554..19741284 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207381)x3 copy number gain See cases [RCV000051920] Chr22:18339130..21207381 [GRCh38]
Chr22:18705801..21561670 [GRCh37]
Chr22:17085801..19891670 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3 copy number gain See cases [RCV000051937] Chr22:18339130..21151128 [GRCh38]
Chr22:18890271..21505417 [GRCh37]
Chr22:17270271..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 copy number gain See cases [RCV000051938] Chr22:18339130..21207225 [GRCh38]
Chr22:18890271..21561514 [GRCh37]
Chr22:17270271..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21444466)x3 copy number gain See cases [RCV000051939] Chr22:18339130..21444466 [GRCh38]
Chr22:18909038..21798755 [GRCh37]
Chr22:17289038..20128755 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 copy number gain See cases [RCV000051940] Chr22:18339130..21086225 [GRCh38]
Chr22:18909038..21440514 [GRCh37]
Chr22:17289038..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18932229-20324381)x3 copy number gain See cases [RCV000051941] Chr22:18932229..20324381 [GRCh38]
Chr22:18919742..20311904 [GRCh37]
Chr22:17299742..18691904 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20343532)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053103]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053103]|See cases [RCV000053103] Chr22:16916608..20343532 [GRCh38]
Chr22:17397498..20402677 [GRCh37]
Chr22:15777498..18782677 [NCBI36]
Chr22:22q11.1-11.21
pathogenic
GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3 copy number gain See cases [RCV000053104] Chr22:16916608..24358936 [GRCh38]
Chr22:17397498..24754904 [GRCh37]
Chr22:15777498..23084904 [NCBI36]
Chr22:22q11.1-11.23
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21107522)x1 copy number loss See cases [RCV000053047] Chr22:18339130..21107522 [GRCh38]
Chr22:19035017..21461811 [GRCh37]
Chr22:17415017..19791811 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053048]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053048]|See cases [RCV000053048] Chr22:18339130..21151128 [GRCh38]
Chr22:19358153..21505417 [GRCh37]
Chr22:17738153..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20671425)x1 copy number loss See cases [RCV000053003] Chr22:18339130..20671425 [GRCh38]
Chr22:18919942..21025713 [GRCh37]
Chr22:17299942..19355713 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18932429-20324240)x1 copy number loss See cases [RCV000053004] Chr22:18932429..20324240 [GRCh38]
Chr22:18919942..20311763 [GRCh37]
Chr22:17299942..18691763 [NCBI36]
Chr22:22q11.21
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x1 copy number loss See cases [RCV000053015] Chr22:18339130..21101267 [GRCh38]
Chr22:18938161..21455556 [GRCh37]
Chr22:17318161..19785556 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20641963)x1 copy number loss See cases [RCV000053025] Chr22:18339130..20641963 [GRCh38]
Chr22:18938161..20996250 [GRCh37]
Chr22:17318161..19326250 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x1 copy number loss See cases [RCV000053027] Chr22:18339130..21101267 [GRCh38]
Chr22:18962313..21455556 [GRCh37]
Chr22:17342313..19785556 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x1 copy number loss See cases [RCV000053029] Chr22:18339130..21101267 [GRCh38]
Chr22:18999803..21455556 [GRCh37]
Chr22:17379803..19785556 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151269)x1 copy number loss See cases [RCV000053006] Chr22:18339130..21151269 [GRCh38]
Chr22:18919942..21505558 [GRCh37]
Chr22:17299942..19835558 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18950648-20241494)x1 copy number loss See cases [RCV000053009] Chr22:18950648..20241494 [GRCh38]
Chr22:18938161..20229017 [GRCh37]
Chr22:17318161..18609017 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x3 copy number gain See cases [RCV000053012] Chr22:18339130..21101267 [GRCh38]
Chr22:18938161..21455556 [GRCh37]
Chr22:17318161..19785556 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss See cases [RCV000053032] Chr22:18339130..21151128 [GRCh38]
Chr22:19029602..21505417 [GRCh37]
Chr22:17409602..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
NM_152906.5(TANGO2):c.499C>T (p.Leu167=) single nucleotide variant Malignant melanoma [RCV000072891] Chr22:20061577 [GRCh38]
Chr22:20049100 [GRCh37]
Chr22:18429100 [NCBI36]
Chr22:22q11.21
not provided
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 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q11.21(chr22:18389245-21086225)x1 copy number loss See cases [RCV000133643] Chr22:18389245..21086225 [GRCh38]
Chr22:20659547..21440514 [GRCh37]
Chr22:18989547..19770514 [NCBI36]
Chr22:22q11.21
uncertain significance
Single allele deletion Epilepsy [RCV001293366] Chr22:18889490..21463730 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20354644)x1 copy number loss See cases [RCV000051035] Chr22:18339130..20354644 [GRCh38]
Chr22:18919942..20708934 [GRCh37]
Chr22:17299942..19038934 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 copy number gain See cases [RCV000051023] Chr22:18339130..21086225 [GRCh38]
Chr22:18706001..21440514 [GRCh37]
Chr22:17086001..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18886915-20278471)x3 copy number gain See cases [RCV000515585] Chr22:18886915..20278471 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x4 copy number gain See cases [RCV000133889] Chr22:18339130..21151128 [GRCh38]
Chr22:18894835..21505417 [GRCh37]
Chr22:17274835..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss See cases [RCV000133890] Chr22:18339130..21151128 [GRCh38]
Chr22:18894835..21505417 [GRCh37]
Chr22:17274835..19835417 [NCBI36]
Chr22:22q11.21
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 copy number gain See cases [RCV000133880] Chr22:18339130..21207225 [GRCh38]
Chr22:18894835..21561514 [GRCh37]
Chr22:17274835..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x1 copy number loss See cases [RCV000133881] Chr22:18339130..21207225 [GRCh38]
Chr22:18894835..21561514 [GRCh37]
Chr22:17274835..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3 copy number gain See cases [RCV000133887] Chr22:18339130..21151128 [GRCh38]
Chr22:18894835..21505417 [GRCh37]
Chr22:17274835..19835417 [NCBI36]
Chr22:22q11.21
pathogenic|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x1 copy number loss See cases [RCV000050630] Chr22:18339130..21454720 [GRCh38]
Chr22:18919942..21809009 [GRCh37]
Chr22:17299942..20139009 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x3 copy number gain See cases [RCV000050729] Chr22:18339130..20343532 [GRCh38]
Chr22:18919942..20659606 [GRCh37]
Chr22:17299942..18989606 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x3 copy number gain See cases [RCV000133785] Chr22:16916608..20354644 [GRCh38]
Chr22:17397498..20708934 [GRCh37]
Chr22:15777498..19038934 [NCBI36]
Chr22:22q11.1-11.21
pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x1 copy number loss See cases [RCV000133786] Chr22:16916608..20354644 [GRCh38]
Chr22:17397498..20708934 [GRCh37]
Chr22:15777498..19038934 [NCBI36]
Chr22:22q11.1-11.21
pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20343532)x3 copy number gain See cases [RCV000133682] Chr22:16916608..20343532 [GRCh38]
Chr22:17397498..20659606 [GRCh37]
Chr22:15777498..18989606 [NCBI36]
Chr22:22q11.1-11.21
pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q11.21(chr22:18907322-20250683)x1 copy number loss See cases [RCV000134515] Chr22:18907322..20250683 [GRCh38]
Chr22:18894835..20238206 [GRCh37]
Chr22:17274835..18618206 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21107463)x3 copy number gain See cases [RCV000134519] Chr22:18339130..21107463 [GRCh38]
Chr22:18894835..21461752 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21107463)x1 copy number loss See cases [RCV000134520] Chr22:18339130..21107463 [GRCh38]
Chr22:18894835..21461752 [GRCh37]
Chr22:17274835..19791752 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1 copy number loss See cases [RCV000133998] Chr22:18339130..20343532 [GRCh38]
Chr22:18894835..20659606 [GRCh37]
Chr22:17274835..18989606 [NCBI36]
Chr22:22q11.21
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18178932-21151156)x3 copy number gain See cases [RCV000134128] Chr22:18178932..21151156 [GRCh38]
Chr22:18661699..21505445 [GRCh37]
Chr22:17041699..19835445 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086226)x3 copy number gain See cases [RCV000134084] Chr22:18339130..21086226 [GRCh38]
Chr22:18894820..21440515 [GRCh37]
Chr22:17274820..19770515 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086226)x1 copy number loss See cases [RCV000134085] Chr22:18339130..21086226 [GRCh38]
Chr22:18894820..21440515 [GRCh37]
Chr22:17274820..19770515 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178932-21151156)x1 copy number loss See cases [RCV000134130] Chr22:18178932..21151156 [GRCh38]
Chr22:18661699..21505445 [GRCh37]
Chr22:17041699..19835445 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18168847-21086166)x3 copy number gain See cases [RCV000135308] Chr22:18168847..21086166 [GRCh38]
Chr22:18651614..21440455 [GRCh37]
Chr22:17031614..19770455 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18145380-21086226)x1 copy number loss See cases [RCV000134837] Chr22:18145380..21086226 [GRCh38]
Chr22:18628147..21440515 [GRCh37]
Chr22:17008147..19770515 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18932429-20324240)x3 copy number gain See cases [RCV000135733] Chr22:18932429..20324240 [GRCh38]
Chr22:18919942..20311763 [GRCh37]
Chr22:17299942..18691763 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20354644)x3 copy number gain See cases [RCV000135512] Chr22:18339130..20354644 [GRCh38]
Chr22:18919942..20708934 [GRCh37]
Chr22:17299942..19038934 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-20343532)x1 copy number loss See cases [RCV000135619] Chr22:18178957..20343532 [GRCh38]
Chr22:18661724..20659606 [GRCh37]
Chr22:17041724..18989606 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21086225)x3 copy number gain See cases [RCV000135519] Chr22:18178957..21086225 [GRCh38]
Chr22:18661724..21440514 [GRCh37]
Chr22:17041724..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 copy number gain See cases [RCV000135456] Chr22:18339130..21207225 [GRCh38]
Chr22:19058829..21561514 [GRCh37]
Chr22:17438829..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21307146)x3 copy number gain See cases [RCV000136518] Chr22:18178957..21307146 [GRCh38]
Chr22:18661724..21661435 [GRCh37]
Chr22:17041724..19991435 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18718488-20324240)x1 copy number loss See cases [RCV000136577] Chr22:18718488..20324240 [GRCh38]
Chr22:18706001..20311763 [GRCh37]
Chr22:17086001..18691763 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss See cases [RCV000136527] Chr22:18339130..21151128 [GRCh38]
Chr22:20311704..21505417 [GRCh37]
Chr22:18691704..19835417 [NCBI36]
Chr22:22q11.21
uncertain significance
GRCh38/hg38 22q11.21(chr22:18339130-21003834)x3 copy number gain See cases [RCV000135898] Chr22:18339130..21003834 [GRCh38]
Chr22:18908832..21358123 [GRCh37]
Chr22:17288832..19688123 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21028664)x1 copy number loss See cases [RCV000136808] Chr22:18339130..21028664 [GRCh38]
Chr22:18896972..21382953 [GRCh37]
Chr22:17276972..19712953 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 copy number loss See cases [RCV000136677] Chr22:18339130..21086225 [GRCh38]
Chr22:19058829..21440514 [GRCh37]
Chr22:17438829..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18909459-20324240)x1 copy number loss See cases [RCV000136832] Chr22:18909459..20324240 [GRCh38]
Chr22:18896972..20311763 [GRCh37]
Chr22:17276972..18691763 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21441926)x1 copy number loss See cases [RCV000136758] Chr22:18339130..21441926 [GRCh38]
Chr22:18891526..21796215 [GRCh37]
Chr22:17271526..20126215 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21107522)x1 copy number loss See cases [RCV000137504] Chr22:18178957..21107522 [GRCh38]
Chr22:18661724..21461811 [GRCh37]
Chr22:17041724..19791811 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3 copy number gain See cases [RCV000138187] Chr22:18339130..21454720 [GRCh38]
Chr22:18894835..21809009 [GRCh37]
Chr22:17274835..20139009 [NCBI36]
Chr22:22q11.21
pathogenic|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18907322-20324261)x3 copy number gain See cases [RCV000138026] Chr22:18907322..20324261 [GRCh38]
Chr22:18894835..20311784 [GRCh37]
Chr22:17274835..18691784 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18145252-21109830)x1 copy number loss See cases [RCV000137985] Chr22:18145252..21109830 [GRCh38]
Chr22:18628019..21464119 [GRCh37]
Chr22:17008019..19794119 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21107522)x1 copy number loss See cases [RCV000138169] Chr22:18339130..21107522 [GRCh38]
Chr22:18894835..21461811 [GRCh37]
Chr22:17274835..19791811 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18389245-21454720)x3 copy number gain See cases [RCV000137927] Chr22:18389245..21454720 [GRCh38]
Chr22:20659547..21809009 [GRCh37]
Chr22:18989547..20139009 [NCBI36]
Chr22:22q11.21
uncertain significance
GRCh38/hg38 22q11.21(chr22:18339130-21109830)x1 copy number loss See cases [RCV000137960] Chr22:18339130..21109830 [GRCh38]
Chr22:18894835..21464119 [GRCh37]
Chr22:17274835..19794119 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21109830)x1 copy number loss See cases [RCV000138671] Chr22:18178957..21109830 [GRCh38]
Chr22:18661724..21464119 [GRCh37]
Chr22:17041724..19794119 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21109830)x1 copy number loss See cases [RCV000138354] Chr22:18339130..21109830 [GRCh38]
Chr22:18706001..21464119 [GRCh37]
Chr22:17086001..19794119 [NCBI36]
Chr22:22q11.21
pathogenic|conflicting data from submitters
GRCh38/hg38 22q11.21-11.22(chr22:18178932-22562620)x3 copy number gain See cases [RCV000139316] Chr22:18178932..22562620 [GRCh38]
Chr22:18661699..22905025 [GRCh37]
Chr22:17041699..21235025 [NCBI36]
Chr22:22q11.21-11.22
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151156)x3 copy number gain See cases [RCV000139000] Chr22:18339130..21151156 [GRCh38]
Chr22:18894820..21505445 [GRCh37]
Chr22:17274820..19835445 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x3 copy number gain See cases [RCV000139955] Chr22:18339130..21111373 [GRCh38]
Chr22:18916828..21465662 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21-11.23(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(chr22:18929315-20325138)x3 copy number gain See cases [RCV000140932] Chr22:18929315..20325138 [GRCh38]
Chr22:18916828..20312661 [GRCh37]
Chr22:17296828..18692661 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21109830)x1 copy number loss See cases [RCV000140853] Chr22:18339130..21109830 [GRCh38]
Chr22:19035323..21464119 [GRCh37]
Chr22:17415323..19794119 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101210)x1 copy number loss See cases [RCV000140773] Chr22:18339130..21101210 [GRCh38]
Chr22:18999803..21455499 [GRCh37]
Chr22:17379803..19785499 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18929329-20324335)x1 copy number loss See cases [RCV000141995] Chr22:18929329..20324335 [GRCh38]
Chr22:18916842..20311858 [GRCh37]
Chr22:17296842..18691858 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18929329-20325138)x1 copy number loss See cases [RCV000141906] Chr22:18929329..20325138 [GRCh38]
Chr22:18916842..20312661 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20686726)x1 copy number loss See cases [RCV000141972] Chr22:18339130..20686726 [GRCh38]
Chr22:18916828..21041014 [GRCh37]
Chr22:17296828..19371014 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1 copy number loss See cases [RCV000141704] Chr22:18339130..21111370 [GRCh38]
Chr22:18916828..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20980781)x1 copy number loss See cases [RCV000141782] Chr22:18339130..20980781 [GRCh38]
Chr22:20277314..21335070 [GRCh37]
Chr22:18657314..19665070 [NCBI36]
Chr22:22q11.21
uncertain significance
GRCh38/hg38 22q11.21(chr22:18157962-21111370)x3 copy number gain See cases [RCV000141737] Chr22:18157962..21111370 [GRCh38]
Chr22:18640729..21465659 [GRCh37]
Chr22:17020729..19795659 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21450597)x1 copy number loss See cases [RCV000141677] Chr22:18339130..21450597 [GRCh38]
Chr22:18916842..21804886 [GRCh37]
Chr22:17296842..20134886 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18166089-21111373)x1 copy number loss See cases [RCV000142253] Chr22:18166089..21111373 [GRCh38]
Chr22:18648856..21465662 [GRCh37]
Chr22:17028856..19795662 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1 copy number loss See cases [RCV000142073] Chr22:18339130..21111370 [GRCh38]
Chr22:19024656..21465659 [GRCh37]
Chr22:17404656..19795659 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18161474-21111373)x1 copy number loss See cases [RCV000142151] Chr22:18161474..21111373 [GRCh38]
Chr22:18644241..21465662 [GRCh37]
Chr22:17024241..19795662 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18389245-21109830)x1 copy number loss See cases [RCV000142988] Chr22:18389245..21109830 [GRCh38]
Chr22:20659547..21464119 [GRCh37]
Chr22:18989547..19794119 [NCBI36]
Chr22:22q11.21
likely pathogenic|uncertain significance
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1 copy number loss See cases [RCV000142546] Chr22:18339130..20343532 [GRCh38]
Chr22:18919942..20659606 [GRCh37]
Chr22:17299942..18989606 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18389245-21151128)x1 copy number loss See cases [RCV000142670] Chr22:18389245..21151128 [GRCh38]
Chr22:20659547..21505417 [GRCh37]
Chr22:18989547..19835417 [NCBI36]
Chr22:22q11.21
uncertain significance
GRCh38/hg38 22q11.21(chr22:18178957-21454720)x1 copy number loss See cases [RCV000142783] Chr22:18178957..21454720 [GRCh38]
Chr22:18661724..21809009 [GRCh37]
Chr22:17041724..20139009 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21307146)x1 copy number loss See cases [RCV000142734] Chr22:18339130..21307146 [GRCh38]
Chr22:18765085..21661435 [GRCh37]
Chr22:17145085..19991435 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21447315)x3 copy number gain See cases [RCV000142641] Chr22:18339130..21447315 [GRCh38]
Chr22:18919942..21801604 [GRCh37]
Chr22:17299942..20131604 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1 copy number loss See cases [RCV000143362] Chr22:18339130..21111373 [GRCh38]
Chr22:18916827..21465662 [GRCh37]
Chr22:17296827..19795662 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x3 copy number gain See cases [RCV000143391] Chr22:18339130..21111370 [GRCh38]
Chr22:18916828..21465659 [GRCh37]
Chr22:17296828..19795659 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1 copy number loss See cases [RCV000143442] Chr22:18339130..21111373 [GRCh38]
Chr22:18970561..21465662 [GRCh37]
Chr22:17350561..19795662 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1 copy number loss See cases [RCV000143225] Chr22:18339130..21111373 [GRCh38]
Chr22:18916842..21465662 [GRCh37]
Chr22:17296842..19795662 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1 copy number loss See cases [RCV000143293] Chr22:18339130..21111370 [GRCh38]
Chr22:18876630..21465659 [GRCh37]
Chr22:17256630..19795659 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x3 copy number gain See cases [RCV000143229] Chr22:18339130..21111370 [GRCh38]
Chr22:18916842..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1 copy number loss See cases [RCV000143234] Chr22:18339130..21111370 [GRCh38]
Chr22:18916842..21465659 [GRCh37]
Chr22:17296842..19795659 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1 copy number loss See cases [RCV000143126] Chr22:18339130..21111373 [GRCh38]
Chr22:18916828..21465662 [GRCh37]
Chr22:17296828..19795662 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20671425)x1 copy number loss See cases [RCV000148086] Chr22:18339130..20671425 [GRCh38]
Chr22:18706001..21025713 [GRCh37]
Chr22:17086001..19355713 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 copy number gain See cases [RCV000148047] Chr22:18339130..21207225 [GRCh38]
Chr22:18919942..21561514 [GRCh37]
Chr22:17299942..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18929329-20325138)x3 copy number gain See cases [RCV000143506] Chr22:18929329..20325138 [GRCh38]
Chr22:18916842..20312661 [GRCh37]
Chr22:17296842..18692661 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1 copy number loss See cases [RCV000148287] Chr22:18339130..20343532 [GRCh38]
Chr22:18706001..20659606 [GRCh37]
Chr22:17086001..18989606 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21151128)x3 copy number gain See cases [RCV000148257] Chr22:18178957..21151128 [GRCh38]
Chr22:18661724..21505417 [GRCh37]
Chr22:17041724..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3 copy number gain See cases [RCV000148102] Chr22:18339130..21454720 [GRCh38]
Chr22:18919942..21809009 [GRCh37]
Chr22:17299942..20139009 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3 copy number gain See cases [RCV000148103] Chr22:18339130..21151128 [GRCh38]
Chr22:18919942..21505417 [GRCh37]
Chr22:17299942..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss See cases [RCV000148104] Chr22:18339130..21151128 [GRCh38]
Chr22:18919942..21505417 [GRCh37]
Chr22:17299942..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 copy number gain See cases [RCV000148206] Chr22:18339130..21086225 [GRCh38]
Chr22:18919942..21440514 [GRCh37]
Chr22:17299942..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x1 copy number loss See cases [RCV000148160] Chr22:18339130..21207225 [GRCh38]
Chr22:18919942..21561514 [GRCh37]
Chr22:17299942..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18932429-20324240)x1 copy number loss See cases [RCV000148168] Chr22:18932429..20324240 [GRCh38]
Chr22:18919942..20311763 [GRCh37]
Chr22:17299942..18691763 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 copy number loss See cases [RCV000148136] Chr22:18339130..21086225 [GRCh38]
Chr22:18919942..21440514 [GRCh37]
Chr22:17299942..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21151128)x1 copy number loss See cases [RCV000148140] Chr22:18178957..21151128 [GRCh38]
Chr22:18661724..21505417 [GRCh37]
Chr22:17041724..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18145252-21151128)x1 copy number loss See cases [RCV000148178] Chr22:18145252..21151128 [GRCh38]
Chr22:18628019..21505417 [GRCh37]
Chr22:17008019..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21086225)x1 copy number loss See cases [RCV000148098] Chr22:18178957..21086225 [GRCh38]
Chr22:18661724..21440514 [GRCh37]
Chr22:17041724..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21207225)x1 copy number loss See cases [RCV000148186] Chr22:18178957..21207225 [GRCh38]
Chr22:18661724..21561514 [GRCh37]
Chr22:17041724..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss See cases [RCV000148100] Chr22:18339130..21151128 [GRCh38]
Chr22:18706001..21505417 [GRCh37]
Chr22:17086001..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 copy number loss See cases [RCV000148101] Chr22:18339130..21086225 [GRCh38]
Chr22:18706001..21440514 [GRCh37]
Chr22:17086001..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18389245-21207225)x1 copy number loss See cases [RCV000050893] Chr22:18389245..21207225 [GRCh38]
Chr22:20659547..21561514 [GRCh37]
Chr22:18989547..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 copy number gain See cases [RCV000051944] Chr22:18339130..21207225 [GRCh38]
Chr22:20402633..21561514 [GRCh37]
Chr22:18782633..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18894339-21440514)x1 copy number loss See cases [RCV000240142] Chr22:18894339..21440514 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18894339-21032422)x3 copy number gain See cases [RCV000240118] Chr22:18894339..21032422 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18894339-20255154)x1 copy number loss See cases [RCV000240154] Chr22:18894339..20255154 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18900442-21440514)x1 copy number loss See cases [RCV000240087] Chr22:18900442..21440514 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:17012935-21431054)x4 copy number gain See cases [RCV000258792] Chr22:17012935..21431054 [GRCh37]
Chr22:22q11.1-11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18919579-21460595)x1 copy number loss See cases [RCV000258811] Chr22:18919579..21460595 [GRCh37]
Chr22:22q11.21
pathogenic|likely pathogenic
NM_152906.7(TANGO2):c.418C>T (p.Arg140Ter) single nucleotide variant Metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration [RCV001250177]|Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV000210334]|not provided [RCV002515582] Chr22:20055980 [GRCh38]
Chr22:20043503 [GRCh37]
Chr22:22q11.21
pathogenic
NM_152906.7(TANGO2):c.460G>A (p.Gly154Arg) single nucleotide variant Cardiac arrhythmia [RCV000210033]|Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV000210337]|not provided [RCV001857677] Chr22:20061538 [GRCh38]
Chr22:20049061 [GRCh37]
Chr22:22q11.21
pathogenic|likely pathogenic
NM_152906.5(TANGO2):c.57-1743_*10769del deletion Cardiac arrhythmia [RCV000210032]|Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV000210339] Chr22:20041612..20075431 [GRCh38]
Chr22:20029135..20062954 [GRCh37]
Chr22:22q11.21
pathogenic
NM_152906.5(TANGO2):c.57-1744_*10770del deletion Cardiac arrhythmia [RCV000210032] Chr22:20029134..20062955 [GRCh37] pathogenic
NM_152906.5(TANGO2):c.146-3605_451+2245del deletion Cardiac arrhythmia [RCV000210034] Chr22:20048860..20058258 [GRCh38]
Chr22:20036383..20045781 [GRCh37]
Chr22:22q11.21
pathogenic
NM_152906.7(TANGO2):c.605+1G>A single nucleotide variant Abnormality of metabolism/homeostasis [RCV001836751]|Cardiac arrhythmia [RCV000210035]|Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV000210343]|not provided [RCV000850088] Chr22:20061684 [GRCh38]
Chr22:20049207 [GRCh37]
Chr22:22q11.21
pathogenic|likely pathogenic
NM_152906.7(TANGO2):c.146-3605_451+2245del deletion Cardiac arrhythmia [RCV000210034]|Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV000210336] Chr22:20048860..20058258 [GRCh38]
Chr22:20036383..20045781 [GRCh37]
Chr22:22q11.21
pathogenic
NM_152906.7(TANGO2):c.4del (p.Cys2fs) deletion Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV000210340]|not provided [RCV001589106] Chr22:20036802 [GRCh38]
Chr22:20024325 [GRCh37]
Chr22:22q11.21
pathogenic
Single allele duplication Autism spectrum disorder [RCV000225609] Chr22:18874965..21028946 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21-12.1(chr22:18738296-25914592)x1 copy number loss Premature ovarian failure [RCV000225330] Chr22:18738296..25914592 [GRCh37]
Chr22:22q11.21-12.1
benign
GRCh37/hg19 22q11.21(chr22:18894835-21440514)x1 copy number loss See cases [RCV000239867] Chr22:18894835..21440514 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18844632-21463730)x1 copy number loss See cases [RCV000239417] Chr22:18844632..21463730 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.21(chr22:18661724-21025713)x3 copy number gain See cases [RCV000239914] Chr22:18661724..21025713 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18650664-21440514)x3 copy number gain See cases [RCV000240570] Chr22:18650664..21440514 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3 copy number gain See cases [RCV000240348] Chr22:16054691..27296513 [GRCh37]
Chr22:22q11.1-12.1
pathogenic
GRCh37/hg19 22q11.1-11.22(chr22:17264511-23238029)x3 copy number gain See cases [RCV000240483] Chr22:17264511..23238029 [GRCh37]
Chr22:22q11.1-11.22
pathogenic
GRCh37/hg19 22q11.21(chr22:19023801-21440514)x1 copy number loss See cases [RCV000240303] Chr22:19023801..21440514 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18900000-20500000) copy number gain Hypertelorism [RCV000626526] Chr22:18900000..20500000 [GRCh37]
Chr22:22q11.21
uncertain significance
Single allele deletion 22q11.2 deletion syndrome [RCV003221321] Chr22:18274663..21110254 [GRCh38]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18640729-21465659)x3 copy number gain See cases [RCV000449438] Chr22:18640729..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21800471)x1 copy number loss See cases [RCV000449444] Chr22:18916842..21800471 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:19024656-21798907)x1 copy number loss See cases [RCV000449418] Chr22:19024656..21798907 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-20716903)x4 copy number gain See cases [RCV000449232] Chr22:18916842..20716903 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20311858)x3 copy number gain See cases [RCV000446787] Chr22:16888899..20311858 [GRCh37]
Chr22:22q11.1-11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21465661)x1 copy number loss See cases [RCV000446325] Chr22:18916842..21465661 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-20716903)x1 copy number loss See cases [RCV000446341] Chr22:18916842..20716903 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18970561-21465659)x3 copy number gain See cases [RCV000446476] Chr22:18970561..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21465659)x3 copy number gain See cases [RCV000447318] Chr22:18644790..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18917047-21465659)x1 copy number loss See cases [RCV000446495] Chr22:18917047..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18894339-21440455)x3 copy number gain See cases [RCV000446626] Chr22:18894339..21440455 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21465662)x1 copy number loss See cases [RCV000446673] Chr22:18648866..21465662 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21915509)x1 copy number loss See cases [RCV000447211] Chr22:18644790..21915509 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21465659)x1 copy number loss See cases [RCV000446125] Chr22:18916842..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:19478208-20168230)x1 copy number loss See cases [RCV000446507] Chr22:19478208..20168230 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:19024656-21465659)x3 copy number gain See cases [RCV000446638] Chr22:19024656..21465659 [GRCh37]
Chr22:22q11.21
pathogenic|likely pathogenic
GRCh37/hg19 22q11.21(chr22:19023801-21440455)x1 copy number loss See cases [RCV000446681] Chr22:19023801..21440455 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18890042-21440455)x1 copy number loss See cases [RCV000446730] Chr22:18890042..21440455 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21800797)x1 copy number loss See cases [RCV000446918] Chr22:18916842..21800797 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:19024792-21465659)x3 copy number gain See cases [RCV000446402] Chr22:19024792..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18937381-21465659)x3 copy number gain See cases [RCV000447496] Chr22:18937381..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-20312661)x3 copy number gain See cases [RCV000446449] Chr22:18916842..20312661 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18636748-21465659)x3 copy number gain See cases [RCV000447019] Chr22:18636748..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21465662)x1 copy number loss See cases [RCV000447026] Chr22:18916842..21465662 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18644772-21041014)x3 copy number gain See cases [RCV000446741] Chr22:18644772..21041014 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21800471)x1 copy number loss See cases [RCV000446545] Chr22:18644790..21800471 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21798907)x1 copy number loss See cases [RCV000447063] Chr22:18648866..21798907 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18650664-21440455)x1 copy number loss See cases [RCV000446173] Chr22:18650664..21440455 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18645353-21465662)x1 copy number loss See cases [RCV000447176] Chr22:18645353..21465662 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21798907)x1 copy number loss See cases [RCV000447508] Chr22:18644790..21798907 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21465659)x1 copy number loss See cases [RCV000446944] Chr22:18648866..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
NM_152906.7(TANGO2):c.419G>A (p.Arg140Gln) single nucleotide variant not provided [RCV000443455] Chr22:20055981 [GRCh38]
Chr22:20043504 [GRCh37]
Chr22:22q11.21
benign|likely benign
GRCh37/hg19 22q11.21(chr22:18648866-21465659)x3 copy number gain See cases [RCV000445951] Chr22:18648866..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21915509)x1 copy number loss See cases [RCV000445962] Chr22:18916842..21915509 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21798907)x1 copy number loss See cases [RCV000445855] Chr22:18916842..21798907 [GRCh37]
Chr22:22q11.21
pathogenic
NM_152906.7(TANGO2):c.77G>A (p.Arg26Lys) single nucleotide variant not provided [RCV000424981] Chr22:20043375 [GRCh38]
Chr22:20030898 [GRCh37]
Chr22:22q11.21
likely pathogenic
NM_152906.7(TANGO2):c.11T>A (p.Ile4Asn) single nucleotide variant not provided [RCV000440029] Chr22:20036809 [GRCh38]
Chr22:20024332 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.32G>A (p.Arg11His) single nucleotide variant not provided [RCV000422787] Chr22:20036830 [GRCh38]
Chr22:20024353 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.94C>T (p.Arg32Ter) single nucleotide variant Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV000825574]|not provided [RCV000435649] Chr22:20043392 [GRCh38]
Chr22:20030915 [GRCh37]
Chr22:22q11.21
pathogenic|likely pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21465659)x3 copy number gain See cases [RCV000448486] Chr22:18916842..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18637139-20289862) copy number gain Abnormal esophagus morphology [RCV000416656] Chr22:18637139..20289862 [GRCh37]
Chr22:22q11.21
likely pathogenic
GRCh37/hg19 22q11.21(chr22:18631979-21465659)x3 copy number gain See cases [RCV000448925] Chr22:18631979..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21800797)x1 copy number loss See cases [RCV000448538] Chr22:18648866..21800797 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21465662)x3 copy number gain See cases [RCV000448166] Chr22:18916842..21465662 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916827-21465662)x1 copy number loss See cases [RCV000447793] Chr22:18916827..21465662 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20716903)x1 copy number loss See cases [RCV000448331] Chr22:16888899..20716903 [GRCh37]
Chr22:22q11.1-11.21
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21465659)x1 copy number loss See cases [RCV000448762] Chr22:18644790..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18894339-21440455)x1 copy number loss See cases [RCV000448077] Chr22:18894339..21440455 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18650664-21440455)x3 copy number gain See cases [RCV000448770] Chr22:18650664..21440455 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.1-11.23(chr22:16888899-23723805)x3 copy number gain See cases [RCV000448224] Chr22:16888899..23723805 [GRCh37]
Chr22:22q11.1-11.23
pathogenic
GRCh37/hg19 22q11.21(chr22:18894339-20255110)x1 copy number loss See cases [RCV000447750] Chr22:18894339..20255110 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-20312661)x1 copy number loss See cases [RCV000447847] Chr22:18916842..20312661 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:19024657-21465662)x1 copy number loss See cases [RCV000510463] Chr22:19024657..21465662 [GRCh37]
Chr22:22q11.21
pathogenic
NM_152906.7(TANGO2):c.711-3C>G single nucleotide variant Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV001764479]|not provided [RCV000498948] Chr22:20064539 [GRCh38]
Chr22:20052062 [GRCh37]
Chr22:22q11.21
pathogenic|likely pathogenic
GRCh37/hg19 22q11.21(chr22:20030782-20052415)x0 copy number loss TANGO2-Related disorder [RCV000509209] Chr22:20030782..20052415 [GRCh37]
Chr22:22q11.21
not provided
GRCh37/hg19 22q11.21(chr22:18917047-21465659)x1 copy number loss See cases [RCV000510221] Chr22:18917047..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888900-20026751)x1 copy number loss See cases [RCV000510232] Chr22:16888900..20026751 [GRCh37]
Chr22:22q11.1-11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18917047-21465662)x1 copy number loss See cases [RCV000510658] Chr22:18917047..21465662 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20311858)x3 copy number gain See cases [RCV000510690] Chr22:16888899..20311858 [GRCh37]
Chr22:22q11.1-11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916828-20312661)x1 copy number loss See cases [RCV000510556] Chr22:18916828..20312661 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.21(chr22:18916828-21049800)x1 copy number loss See cases [RCV000510907] Chr22:18916828..21049800 [GRCh37]
Chr22:22q11.21
pathogenic
NM_152906.7(TANGO2):c.605+1G>C single nucleotide variant Inborn genetic diseases [RCV000622285] Chr22:20061684 [GRCh38]
Chr22:20049207 [GRCh37]
Chr22:22q11.21
pathogenic|likely pathogenic
NC_000022.10:g.20029135_20062954del33820 deletion TANGO2-Related Metabolic Encephalopathy and Arrhythmias [RCV000558680] Chr22:20029135..20062954 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21804716)x1 copy number loss See cases [RCV000512402] Chr22:18916842..21804716 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21465659)x3 copy number gain See cases [RCV000512387] Chr22:18644790..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.21(chr22:18894835-20311763) copy number loss Astigmatism [RCV000626527] Chr22:18894835..20311763 [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_152906.7(TANGO2):c.451+16C>T single nucleotide variant not provided [RCV003825152] Chr22:20056029 [GRCh38]
Chr22:20043552 [GRCh37]
Chr22:22q11.21
likely benign
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(chr22:18916827-21050078)x3 copy number gain not provided [RCV000684505] Chr22:18916827..21050078 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18970560-21465662)x3 copy number gain not provided [RCV000684508] Chr22:18970560..21465662 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18935463-21465659)x1 copy number loss not provided [RCV000684509] Chr22:18935463..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21465662)x1 copy number loss not provided [RCV000684510] Chr22:18916842..21465662 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916827-21465659)x3 copy number gain not provided [RCV000684511] Chr22:18916827..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18644542-21465659)x1 copy number loss not provided [RCV000684513] Chr22:18644542..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21798907)x1 copy number loss not provided [RCV000684514] Chr22:18916842..21798907 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18626108-21800797)x1 copy number loss not provided [RCV000684517] Chr22:18626108..21800797 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21915509)x1 copy number loss not provided [RCV000684519] Chr22:18644790..21915509 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18645353-21465659)x3 copy number gain not provided [RCV000684512] Chr22:18645353..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21800797)x1 copy number loss not provided [RCV000684516] Chr22:18648866..21800797 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20312661)x3 copy number gain not provided [RCV000684521] Chr22:16888899..20312661 [GRCh37]
Chr22:22q11.1-11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-20310938)x1 copy number loss not provided [RCV000684495] Chr22:18916842..20310938 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-20311858)x3 copy number gain not provided [RCV000684496] Chr22:18916842..20311858 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18649189-20311858)x3 copy number gain not provided [RCV000684500] Chr22:18649189..20311858 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-20716903)x1 copy number loss not provided [RCV000684502] Chr22:18916842..20716903 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-20767095)x1 copy number loss not provided [RCV000684503] Chr22:18916842..20767095 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
Single allele deletion Abnormal bleeding [RCV000852267] Chr22:19709400..21142058 [GRCh37]
Chr22:22q11.21
likely pathogenic
NM_152906.7(TANGO2):c.256C>T (p.Arg86Ter) single nucleotide variant Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV000754642]|not provided [RCV001855851] Chr22:20052575 [GRCh38]
Chr22:20040098 [GRCh37]
Chr22:22q11.21
pathogenic|likely pathogenic
NC_000022.11:g.(?_18159879)_(21362822_?)del deletion Schizophrenia [RCV000754240] Chr22:18159879..21362822 [GRCh38]
Chr22:22q11.21
pathogenic
NC_000022.11:g.(?_18159879)_(21387988_?)del deletion Schizophrenia [RCV000754241] Chr22:18159879..21387988 [GRCh38]
Chr22:22q11.21
pathogenic
NC_000022.11:g.(?_18163926)_(21277123_?)del deletion Schizophrenia [RCV000754242] Chr22:18163926..21277123 [GRCh38]
Chr22:22q11.21
pathogenic
NC_000022.11:g.(?_18802709)_(21343709_?)del deletion Schizophrenia [RCV000754243] Chr22:18802709..21343709 [GRCh38]
Chr22:22q11.21
pathogenic
NC_000022.11:g.(?_18832909)_(21123588_?)del deletion Schizophrenia [RCV000754244] Chr22:18832909..21123588 [GRCh38]
Chr22:22q11.21
pathogenic
NC_000022.11:g.(?_18880919)_(20346734_?)del deletion Schizophrenia [RCV000754246] Chr22:18880919..20346734 [GRCh38]
Chr22:22q11.21
pathogenic
NC_000022.11:g.(?_18880919)_(21123588_?)del deletion Schizophrenia [RCV000754247] Chr22:18880919..21123588 [GRCh38]
Chr22:22q11.21
pathogenic
Single allele duplication Autism [RCV000754248] Chr22:18904453..20324329 [GRCh38]
Chr22:22q11.21
pathogenic
Single allele duplication Autism [RCV000754249] Chr22:18904453..21277123 [GRCh38]
Chr22:22q11.21
pathogenic
Single allele duplication Autism [RCV000754250] Chr22:19295635..21510330 [GRCh38]
Chr22:22q11.21
pathogenic
NC_000022.11:g.(?_18846939)_(21221413_?)del deletion Schizophrenia [RCV000754245] Chr22:18846939..21221413 [GRCh38]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18675473-21465050)x3 copy number gain not provided [RCV000741726] Chr22:18675473..21465050 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18728118-21811991)x1 copy number loss not provided [RCV000741727] Chr22:18728118..21811991 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18844632-21463730)x3 copy number gain not provided [RCV000741728] Chr22:18844632..21463730 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18844632-21608479)x1 copy number loss not provided [RCV000741729] Chr22:18844632..21608479 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18861748-21463730)x1 copy number loss not provided [RCV000741730] Chr22:18861748..21463730 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18872508-21465050)x1 copy number loss not provided [RCV000741731] Chr22:18872508..21465050 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18875869-21470273)x1 copy number loss not provided [RCV000741733] Chr22:18875869..21470273 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18875956-21466715)x1 copy number loss not provided [RCV000741734] Chr22:18875956..21466715 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18878409-21465050)x1 copy number loss not provided [RCV000741735] Chr22:18878409..21465050 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18878409-21467387)x3 copy number gain not provided [RCV000741736] Chr22:18878409..21467387 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18878409-21907671)x1 copy number loss not provided [RCV000741737] Chr22:18878409..21907671 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18884401-21467387)x3 copy number gain not provided [RCV000741738] Chr22:18884401..21467387 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:18886915-21463730)x1 copy number loss not provided [RCV000741739] Chr22:18886915..21463730 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18886915-21465050)x1 copy number loss not provided [RCV000741740] Chr22:18886915..21465050 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18886915-21467387)x1 copy number loss not provided [RCV000741741] Chr22:18886915..21467387 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18889490-20312668)x1 copy number loss not provided [RCV000741742] Chr22:18889490..20312668 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18889490-21466715)x1 copy number loss not provided [RCV000741743] Chr22:18889490..21466715 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18891398-21463730)x3 copy number gain not provided [RCV000741744] Chr22:18891398..21463730 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:19016663-21463730)x1 copy number loss not provided [RCV000741747] Chr22:19016663..21463730 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:19758228-20761112)x1 copy number loss not provided [RCV000741753] Chr22:19758228..20761112 [GRCh37]
Chr22:22q11.21
benign
GRCh37/hg19 22q11.21(chr22:20037315-20057143)x1 copy number loss not provided [RCV000741755] Chr22:20037315..20057143 [GRCh37]
Chr22:22q11.21
benign
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16114244-20737903)x3 copy number gain not provided [RCV000741690] Chr22:16114244..20737903 [GRCh37]
Chr22:22q11.1-11.21
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_152906.7(TANGO2):c.381-96C>T single nucleotide variant not provided [RCV001648088] Chr22:20055847 [GRCh38]
Chr22:20043370 [GRCh37]
Chr22:22q11.21
benign
NM_152906.7(TANGO2):c.711-15C>T single nucleotide variant not provided [RCV001565857] Chr22:20064527 [GRCh38]
Chr22:20052050 [GRCh37]
Chr22:22q11.21
benign|likely benign
GRCh37/hg19 22q11.21(chr22:18916842-21075592)x1 copy number loss not provided [RCV001007166] Chr22:18916842..21075592 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:19819961-20098521)x1 copy number loss not provided [RCV001007168] Chr22:19819961..20098521 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:18636749-21800471)x1 copy number loss Velocardiofacial syndrome [RCV000788059] Chr22:18636749..21800471 [GRCh37]
Chr22:22q11.21
pathogenic
NM_152906.7(TANGO2):c.56+219C>G single nucleotide variant Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV002272481]|not provided [RCV001577212] Chr22:20037073 [GRCh38]
Chr22:20024596 [GRCh37]
Chr22:22q11.21
benign|likely benign
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
NM_152906.7(TANGO2):c.711-103G>C single nucleotide variant not provided [RCV001546204] Chr22:20064439 [GRCh38]
Chr22:20051962 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.711-253G>A single nucleotide variant not provided [RCV001549910] Chr22:20064289 [GRCh38]
Chr22:20051812 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.*117C>A single nucleotide variant not provided [RCV001666804] Chr22:20064779 [GRCh38]
Chr22:20052302 [GRCh37]
Chr22:22q11.21
benign
NM_152906.7(TANGO2):c.51G>A (p.Ala17=) single nucleotide variant not provided [RCV000924040] Chr22:20036849 [GRCh38]
Chr22:20024372 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.789C>T (p.Ser263=) single nucleotide variant not provided [RCV000971090] Chr22:20064620 [GRCh38]
Chr22:20052143 [GRCh37]
Chr22:22q11.21
benign|likely benign
NM_152906.7(TANGO2):c.99C>T (p.Pro33=) single nucleotide variant not provided [RCV000928978] Chr22:20043397 [GRCh38]
Chr22:20030920 [GRCh37]
Chr22:22q11.21
likely benign
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(chr22:18892575-20308800) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767597] Chr22:18892575..20308800 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18900755-21075586) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767598] Chr22:18900755..21075586 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18912403-21431174) copy number loss DiGeorge syndrome [RCV000767629] Chr22:18912403..21431174 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18892575-21460220) copy number loss DiGeorge syndrome [RCV000767687] Chr22:18892575..21460220 [GRCh37]
Chr22:22q11.21
pathogenic
NM_152906.7(TANGO2):c.451+34G>A single nucleotide variant not provided [RCV001571269] Chr22:20056047 [GRCh38]
Chr22:20043570 [GRCh37]
Chr22:22q11.21
likely benign
GRCh37/hg19 22q11.21(chr22:18916842-21033371)x1 copy number loss not provided [RCV001007165] Chr22:18916842..21033371 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18912514-21431174) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767689] Chr22:18912514..21431174 [GRCh37]
Chr22:22q11.21
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787412] Chr22:18890264..21540347 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18889490-21917190)x1 copy number loss See cases [RCV000790601] Chr22:18889490..21917190 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18912870-21431174) copy number loss DiGeorge syndrome [RCV000767633] Chr22:18912870..21431174 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18609712-21408430) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767590] Chr22:18609712..21408430 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18611223-21408430) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767591] Chr22:18611223..21408430 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18912514-21922035) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767627] Chr22:18912514..21922035 [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 22q11.1-11.21(chr22:17072086-20130474) copy number gain not provided [RCV000767814] Chr22:17072086..20130474 [GRCh37]
Chr22:22q11.1-11.21
pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:17289827-20311922) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767815] Chr22:17289827..20311922 [GRCh37]
Chr22:22q11.1-11.21
pathogenic
NM_152906.7(TANGO2):c.735T>G (p.Asp245Glu) single nucleotide variant not provided [RCV000962850] Chr22:20064566 [GRCh38]
Chr22:20052089 [GRCh37]
Chr22:22q11.21
benign
NM_152906.7(TANGO2):c.628G>A (p.Glu210Lys) single nucleotide variant not provided [RCV000968418] Chr22:20063360 [GRCh38]
Chr22:20050883 [GRCh37]
Chr22:22q11.21
benign|likely benign
GRCh37/hg19 22q11.21(chr22:18661724-21505417)x1 copy number loss Velocardiofacial syndrome [RCV000856641] Chr22:18661724..21505417 [GRCh37]
Chr22:22q11.21
pathogenic
NM_152906.7(TANGO2):c.316C>T (p.Leu106=) single nucleotide variant not provided [RCV000917657] Chr22:20053487 [GRCh38]
Chr22:20041010 [GRCh37]
Chr22:22q11.21
likely benign
GRCh37/hg19 22q11.21(chr22:18650745-21460220) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767592] Chr22:18650745..21460220 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18892575-21460220) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767596] Chr22:18892575..21460220 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18650803-21386010) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767595] Chr22:18650803..21386010 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18918741-20311922) copy number loss DiGeorge syndrome [RCV000767628] Chr22:18918741..20311922 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18923898-21431174) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767630] Chr22:18923898..21431174 [GRCh37]
Chr22:22q11.21
pathogenic
Single allele duplication Chromosome 22q11.2 microduplication syndrome [RCV003232578] Chr22:18985739..21081116 [GRCh38]
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
Single allele deletion Deep venous thrombosis [RCV000852271] Chr22:19710418..21142058 [GRCh37]
Chr22:22q11.21
likely pathogenic
GRCh37/hg19 22q11.21(chr22:20030822-20068490)x1 copy number loss not provided [RCV000845692] Chr22:20030822..20068490 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.145+50G>C single nucleotide variant not provided [RCV000831364] Chr22:20043493 [GRCh38]
Chr22:20031016 [GRCh37]
Chr22:22q11.21
benign
NM_152906.7(TANGO2):c.145+14C>T single nucleotide variant not provided [RCV000842113] Chr22:20043457 [GRCh38]
Chr22:20030980 [GRCh37]
Chr22:22q11.21
benign
NM_152906.7(TANGO2):c.56+148C>T single nucleotide variant Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV002501165]|not provided [RCV000833149] Chr22:20037002 [GRCh38]
Chr22:20024525 [GRCh37]
Chr22:22q11.21
likely benign
GRCh37/hg19 22q11.21(chr22:18912231-21465672)x1 copy number loss Velocardiofacial syndrome [RCV000788056] Chr22:18912231..21465672 [GRCh37]
Chr22:22q11.21
pathogenic
NM_152906.7(TANGO2):c.605+134T>C single nucleotide variant not provided [RCV000844332] Chr22:20061817 [GRCh38]
Chr22:20049340 [GRCh37]
Chr22:22q11.21
benign
GRCh37/hg19 22q11.21(chr22:20030822-20041691)x1 copy number loss not provided [RCV000848722] Chr22:20030822..20041691 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916827-20311858)x1 copy number loss not provided [RCV000849445] Chr22:18916827..20311858 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:20028563-20053554)x1 copy number loss not provided [RCV000846865] Chr22:20028563..20053554 [GRCh37]
Chr22:22q11.21
pathogenic
NM_152906.7(TANGO2):c.57-129C>A single nucleotide variant not provided [RCV000831363] Chr22:20043226 [GRCh38]
Chr22:20030749 [GRCh37]
Chr22:22q11.21
benign
NM_152906.7(TANGO2):c.145+136G>A single nucleotide variant not provided [RCV000831365] Chr22:20043579 [GRCh38]
Chr22:20031102 [GRCh37]
Chr22:22q11.21
benign
GRCh37/hg19 22q11.21(chr22:20030822-20053554)x1 copy number loss not provided [RCV000846943] Chr22:20030822..20053554 [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(chr22:20030822-20053554)x1 copy number loss not provided [RCV000849965] Chr22:20030822..20053554 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:20030822-20053554)x1 copy number loss not provided [RCV000849777] Chr22:20030822..20053554 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20312661)x3 copy number gain not provided [RCV000846815] Chr22:16888899..20312661 [GRCh37]
Chr22:22q11.1-11.21
pathogenic
NC_000022.11:g.(?_20043355)_(20064662_?)del deletion not provided [RCV000820579] Chr22:20043355..20064662 [GRCh38]
Chr22:20030878..20052185 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:19819477-21464764)x3 copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000788064] Chr22:19819477..21464764 [GRCh37]
Chr22:22q11.21
pathogenic
Single allele duplication Neurodevelopmental disorder [RCV000787416] Chr22:18890264..21464056 [GRCh37]
Chr22:22q11.21
likely 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
NM_152906.7(TANGO2):c.-39-109A>G single nucleotide variant not provided [RCV000844330] Chr22:20036651 [GRCh38]
Chr22:20024174 [GRCh37]
Chr22:22q11.21
benign
NM_152906.7(TANGO2):c.605+248A>G single nucleotide variant not provided [RCV000844342] Chr22:20061931 [GRCh38]
Chr22:20049454 [GRCh37]
Chr22:22q11.21
benign
NM_152906.7(TANGO2):c.605+259T>C single nucleotide variant not provided [RCV000844346] Chr22:20061942 [GRCh38]
Chr22:20049465 [GRCh37]
Chr22:22q11.21
benign
NM_152906.7(TANGO2):c.605+289G>A single nucleotide variant not provided [RCV000844347] Chr22:20061972 [GRCh38]
Chr22:20049495 [GRCh37]
Chr22:22q11.21
benign
NM_152906.7(TANGO2):c.265+113C>T single nucleotide variant not provided [RCV000831761] Chr22:20052697 [GRCh38]
Chr22:20040220 [GRCh37]
Chr22:22q11.21
benign
Single allele duplication Neurodevelopmental disorder [RCV000787407] Chr22:17041669..20247250 [GRCh37]
Chr22:22q11.1-11.21
likely pathogenic
GRCh37/hg19 22q11.21(chr22:18631364-21800471)x1 copy number loss Velocardiofacial syndrome [RCV000788057] Chr22:18631364..21800471 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18919477-21800471)x1 copy number loss Velocardiofacial syndrome [RCV000788060] Chr22:18919477..21800471 [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(chr22:18916842-20311858)x1 copy number loss not provided [RCV000846352] Chr22:18916842..20311858 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:20030822-20053554)x1 copy number loss not provided [RCV000847570] Chr22:20030822..20053554 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:20030822-20053554)x1 copy number loss not provided [RCV000848631] Chr22:20030822..20053554 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20730144)x1 copy number loss not provided [RCV001007159] Chr22:16888899..20730144 [GRCh37]
Chr22:22q11.1-11.21
pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:17055733-20312661)x3 copy number gain not provided [RCV000845704] Chr22:17055733..20312661 [GRCh37]
Chr22:22q11.1-11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18886915-21463730)x1 copy number loss See cases [RCV001194533] Chr22:18886915..21463730 [GRCh37]
Chr22:22q11.21
pathogenic
NM_152906.7(TANGO2):c.380+1G>A single nucleotide variant Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV001004913] Chr22:20053552 [GRCh38]
Chr22:20041075 [GRCh37]
Chr22:22q11.21
likely pathogenic
GRCh37/hg19 22q11.21(chr22:20030799-20068380)x1 copy number loss Autism [RCV000993708] Chr22:20030799..20068380 [GRCh37]
Chr22:22q11.21
uncertain significance
Single allele deletion DiGeorge syndrome [RCV001003853] Chr22:18475385..23764120 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
NM_152906.7(TANGO2):c.35_36del (p.Pro12fs) deletion not provided [RCV001008438] Chr22:20036833..20036834 [GRCh38]
Chr22:20024356..20024357 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:20036384-20045784) copy number loss Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV001195111] Chr22:20036384..20045784 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:20030822-20053554)x1 copy number loss not provided [RCV000846848] Chr22:20030822..20053554 [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
NM_152906.7(TANGO2):c.95G>A (p.Arg32Gln) single nucleotide variant Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV000990375] Chr22:20043393 [GRCh38]
Chr22:20030916 [GRCh37]
Chr22:22q11.21
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 22q11.21(chr22:20030822-20053554)x1 copy number loss not provided [RCV000845818] Chr22:20030822..20053554 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:20029135-20062954) copy number loss Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV001195110] Chr22:20029135..20062954 [GRCh37]
Chr22:22q11.21
pathogenic
NC_000022.11:g.18948676_21110520dup duplication Chromosome 22q11.2 microduplication syndrome [RCV003313910] Chr22:18948676..21110520 [GRCh38]
Chr22:22q11.21
pathogenic
NM_152906.7(TANGO2):c.381-107A>C single nucleotide variant not provided [RCV001549558] Chr22:20055836 [GRCh38]
Chr22:20043359 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.711-137C>T single nucleotide variant not provided [RCV001576094] Chr22:20064405 [GRCh38]
Chr22:20051928 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.57-221A>T single nucleotide variant not provided [RCV001546373] Chr22:20043134 [GRCh38]
Chr22:20030657 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.452-190C>T single nucleotide variant not provided [RCV001651375] Chr22:20061340 [GRCh38]
Chr22:20048863 [GRCh37]
Chr22:22q11.21
benign
NM_152906.7(TANGO2):c.711-278C>T single nucleotide variant not provided [RCV001561436] Chr22:20064264 [GRCh38]
Chr22:20051787 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.380+158A>G single nucleotide variant not provided [RCV001562288] Chr22:20053709 [GRCh38]
Chr22:20041232 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.451+232C>T single nucleotide variant not provided [RCV001557574] Chr22:20056245 [GRCh38]
Chr22:20043768 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.451+94C>T single nucleotide variant not provided [RCV001571851] Chr22:20056107 [GRCh38]
Chr22:20043630 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.381-199A>C single nucleotide variant not provided [RCV001565615] Chr22:20055744 [GRCh38]
Chr22:20043267 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.605+209GGCCCA[5] microsatellite not provided [RCV001696419] Chr22:20061891..20061892 [GRCh38]
Chr22:20049414..20049415 [GRCh37]
Chr22:22q11.21
benign
NM_152906.7(TANGO2):c.381-95G>A single nucleotide variant not provided [RCV001546564] Chr22:20055848 [GRCh38]
Chr22:20043371 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.146-121C>T single nucleotide variant not provided [RCV001696698] Chr22:20052344 [GRCh38]
Chr22:20039867 [GRCh37]
Chr22:22q11.21
benign
NM_152906.7(TANGO2):c.714C>G (p.Thr238=) single nucleotide variant not provided [RCV000933453] Chr22:20064545 [GRCh38]
Chr22:20052068 [GRCh37]
Chr22:22q11.21
likely benign
NC_000022.10:g.(?_18900688)_(20052185_?)dup duplication not provided [RCV001031244] Chr22:18900688..20052185 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.*235G>A single nucleotide variant not provided [RCV001637462] Chr22:20064897 [GRCh38]
Chr22:20052420 [GRCh37]
Chr22:22q11.21
benign
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(chr22:19647905-21153690)x1 copy number loss not provided [RCV002472681] Chr22:19647905..21153690 [GRCh37]
Chr22:22q11.21
pathogenic
NM_152906.7(TANGO2):c.711-22G>A single nucleotide variant not provided [RCV001565565] Chr22:20064520 [GRCh38]
Chr22:20052043 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.*296C>A single nucleotide variant not provided [RCV001636118] Chr22:20064958 [GRCh38]
Chr22:20052481 [GRCh37]
Chr22:22q11.21
benign
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(chr22:18916828-21800797)x1 copy number loss not provided [RCV002473925] Chr22:18916828..21800797 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16888899-26483608)x3 copy number gain Cat eye syndrome [RCV001263219] Chr22:16888899..26483608 [GRCh37]
Chr22:22q11.1-12.1
pathogenic
GRCh37/hg19 22q11.21(chr22:18889571-21464697)x1 copy number loss not provided [RCV001537922] Chr22:18889571..21464697 [GRCh37]
Chr22:22q11.21
pathogenic
NM_152906.7(TANGO2):c.702C>T (p.Tyr234=) single nucleotide variant See cases [RCV002252697]|not provided [RCV001720816] Chr22:20063434 [GRCh38]
Chr22:20050957 [GRCh37]
Chr22:22q11.21
benign
NM_152906.7(TANGO2):c.606-161A>T single nucleotide variant not provided [RCV001593729] Chr22:20063177 [GRCh38]
Chr22:20050700 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.266-138dup duplication not provided [RCV001653118] Chr22:20053298..20053299 [GRCh38]
Chr22:20040821..20040822 [GRCh37]
Chr22:22q11.21
benign
NM_152906.7(TANGO2):c.710+14G>A single nucleotide variant not provided [RCV001637553] Chr22:20063456 [GRCh38]
Chr22:20050979 [GRCh37]
Chr22:22q11.21
benign
NM_152906.7(TANGO2):c.*257A>G single nucleotide variant not provided [RCV001721958] Chr22:20064919 [GRCh38]
Chr22:20052442 [GRCh37]
Chr22:22q11.21
benign
NM_152906.7(TANGO2):c.266-209T>G single nucleotide variant not provided [RCV001590623] Chr22:20053228 [GRCh38]
Chr22:20040751 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.605+79G>A single nucleotide variant not provided [RCV001656640] Chr22:20061762 [GRCh38]
Chr22:20049285 [GRCh37]
Chr22:22q11.21
benign
NM_152906.7(TANGO2):c.146-270G>A single nucleotide variant not provided [RCV001636324] Chr22:20052195 [GRCh38]
Chr22:20039718 [GRCh37]
Chr22:22q11.21
benign
Single allele deletion Inherited Immunodeficiency Diseases [RCV001027643] Chr22:18789965..21591197 [GRCh37]
Chr22:22q11.21
likely pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20125005)x1 copy number loss not provided [RCV001007156] Chr22:16888899..20125005 [GRCh37]
Chr22:22q11.1-11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18892575-20306993)x3 copy number gain See cases [RCV001007434] Chr22:18892575..20306993 [GRCh37]
Chr22:22q11.21
pathogenic
NC_000022.11:g.20042177_20075233del deletion Hereditary episodic ataxia [RCV001003866] Chr22:20029700..20062756 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18886915-21463730)x1 copy number loss See cases [RCV001194516] Chr22:18886915..21463730 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18970561-21040836)x3 copy number gain not provided [RCV001007167] Chr22:18970561..21040836 [GRCh37]
Chr22:22q11.21
pathogenic
NM_152906.7(TANGO2):c.605+38C>T single nucleotide variant not provided [RCV001708904] Chr22:20061721 [GRCh38]
Chr22:20049244 [GRCh37]
Chr22:22q11.21
benign
GRCh37/hg19 22q11.21(chr22:18912403-21431174) copy number loss DiGeorge syndrome [RCV001195119] Chr22:18912403..21431174 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18844632-21797812)x1 copy number loss See cases [RCV001194550] Chr22:18844632..21797812 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.1-11.22(chr22:16888899-22290476)x3 copy number gain not provided [RCV001007162] Chr22:16888899..22290476 [GRCh37]
Chr22:22q11.1-11.22
pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16888899-27657507)x3 copy number gain not provided [RCV001007163] Chr22:16888899..27657507 [GRCh37]
Chr22:22q11.1-12.1
pathogenic
GRCh37/hg19 22q11.21(chr22:18889693-21465485)x1 copy number loss not provided [RCV001537920] Chr22:18889693..21465485 [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 22q11.21-11.22(chr22:19035089-22672555)x3 copy number gain not provided [RCV001259984] Chr22:19035089..22672555 [GRCh37]
Chr22:22q11.21-11.22
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21011216)x1 copy number loss not provided [RCV001259980] Chr22:18916842..21011216 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18917047-21465659) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV002280735] Chr22:18917047..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916827-21804886) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV002280737] Chr22:18916827..21804886 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18661699-21457610)x1 copy number loss See cases [RCV001263054] Chr22:18661699..21457610 [GRCh37]
Chr22:22q11.21
pathogenic
NM_152906.7(TANGO2):c.685G>A (p.Val229Met) single nucleotide variant Inborn genetic diseases [RCV003303479]|not provided [RCV001982621] Chr22:20063417 [GRCh38]
Chr22:20050940 [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
NM_152906.7(TANGO2):c.569_592del (p.Ile190_Leu197del) deletion Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV001264750] Chr22:20061636..20061659 [GRCh38]
Chr22:20049159..20049182 [GRCh37]
Chr22:22q11.21
likely pathogenic
GRCh37/hg19 22q11.21(chr22:18889977-21463189)x3 copy number gain not provided [RCV001537921] Chr22:18889977..21463189 [GRCh37]
Chr22:22q11.21
pathogenic
NM_152906.7(TANGO2):c.451+2T>A single nucleotide variant Inborn genetic diseases [RCV001266672] Chr22:20056015 [GRCh38]
Chr22:20043538 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:19024656-21465662)x3 copy number gain not provided [RCV001259978] Chr22:19024656..21465662 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21465659)x4 copy number gain not provided [RCV001259979] Chr22:18648866..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
Single allele deletion Intellectual disability [RCV001293370] Chr22:18886915..21463730 [GRCh37]
Chr22:22q11.21
pathogenic
NM_152906.7(TANGO2):c.496A>G (p.Lys166Glu) single nucleotide variant not provided [RCV001320800] Chr22:20061574 [GRCh38]
Chr22:20049097 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:18909044-21464119) copy number gain Cryptorchidism [RCV001291958] Chr22:18909044..21464119 [GRCh37]
Chr22:22q11.21
pathogenic
NM_152906.7(TANGO2):c.57-3C>T single nucleotide variant Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV001328688]|not provided [RCV001863191] Chr22:20043352 [GRCh38]
Chr22:20030875 [GRCh37]
Chr22:22q11.21
uncertain significance
NC_000022.10:g.(?_18900688)_(21351637_?)del deletion DiGeorge syndrome [RCV001383366]|not provided [RCV001871994] Chr22:18900688..21351637 [GRCh37]
Chr22:22q11.21
pathogenic|no classifications from unflagged records
GRCh37/hg19 22q11.1-11.21(chr22:16800000-21500000)x4 copy number gain not provided [RCV001270641] Chr22:16800000..21500000 [GRCh37]
Chr22:22q11.1-11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18886915-21461017)x3 copy number gain Epilepsy [RCV001293650] Chr22:18886915..21461017 [GRCh37]
Chr22:22q11.21
pathogenic
NC_000022.11:g.20039637_20075714del deletion Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV001376112] Chr22:20039637..20075714 [GRCh38]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18889950-21466053)x1 copy number loss not provided [RCV001270642] Chr22:18889950..21466053 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18628019-20311763) copy number gain Motor delay [RCV001291948] Chr22:18628019..20311763 [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
NC_000022.11:g.20041469_20075432del deletion Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV001376113] Chr22:20041469..20075432 [GRCh38]
Chr22:22q11.21
pathogenic
NM_152906.7(TANGO2):c.631G>C (p.Asp211His) single nucleotide variant not provided [RCV001476859] Chr22:20063363 [GRCh38]
Chr22:20050886 [GRCh37]
Chr22:22q11.21
likely benign
NC_000022.10:g.(?_20052065)_(20052185_?)del deletion not provided [RCV001389248] Chr22:20052065..20052185 [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
NM_152906.7(TANGO2):c.451+164A>G single nucleotide variant not provided [RCV001688430] Chr22:20056177 [GRCh38]
Chr22:20043700 [GRCh37]
Chr22:22q11.21
benign
GRCh37/hg19 22q11.21(chr22:18889969-21462658)x1 copy number loss See cases [RCV001526484] Chr22:18889969..21462658 [GRCh37]
Chr22:22q11.21
pathogenic
NC_000022.10:g.(?_20030878)_(20049206_?)del deletion not provided [RCV001389249] Chr22:20030878..20049206 [GRCh37]
Chr22:22q11.21
pathogenic
NM_152906.7(TANGO2):c.363C>T (p.Leu121=) single nucleotide variant not provided [RCV003108412] Chr22:20053534 [GRCh38]
Chr22:20041057 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.236C>G (p.Pro79Arg) single nucleotide variant See cases [RCV002252598] Chr22:20052555 [GRCh38]
Chr22:20040078 [GRCh37]
Chr22:22q11.21
uncertain significance
NC_000022.10:g.(?_17565982)_(20052185_?)del deletion Immunodeficiency 51 [RCV003122555]|Vasculitis due to ADA2 deficiency [RCV003107327] Chr22:17565982..20052185 [GRCh37]
Chr22:22q11.1-11.21
pathogenic
NM_152906.7(TANGO2):c.262C>T (p.Arg88Ter) single nucleotide variant Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV001761402]|not provided [RCV001868552] Chr22:20052581 [GRCh38]
Chr22:20040104 [GRCh37]
Chr22:22q11.21
pathogenic
NC_000022.11:g.18948676_21110520del deletion Velocardiofacial syndrome [RCV003318485] Chr22:18948676..21110520 [GRCh38]
Chr22:22q11.21
pathogenic
NM_152906.7(TANGO2):c.59T>G (p.Leu20Arg) single nucleotide variant Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV001761391] Chr22:20043357 [GRCh38]
Chr22:20030880 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.12CTT[1] (p.Phe6del) microsatellite Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV001761399] Chr22:20036809..20036811 [GRCh38]
Chr22:20024332..20024334 [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_000022.10:g.18861209_21630630del deletion Megacolon [RCV001290034] Chr22:18861209..21630630 [GRCh37]
Chr22:22q11.21
likely pathogenic
NM_152906.7(TANGO2):c.703G>A (p.Gly235Ser) single nucleotide variant Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV001733570]|not provided [RCV002539836] Chr22:20063435 [GRCh38]
Chr22:20050958 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.487C>T (p.Pro163Ser) single nucleotide variant not provided [RCV001763478] Chr22:20061565 [GRCh38]
Chr22:20049088 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:18884714-21483289)x1 copy number loss See cases [RCV001780077] Chr22:18884714..21483289 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18873001-21469900) copy number gain Cerebral palsy [RCV001796564] Chr22:18873001..21469900 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:19036286-21208284)x1 copy number loss Schizophrenia [RCV001801223] Chr22:19036286..21208284 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18660135-21737597)x1 copy number loss Chromosome 22q11.2 deletion syndrome, distal [RCV001801214] Chr22:18660135..21737597 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18893344-21650280) copy number loss DiGeorge syndrome [RCV002280732] Chr22:18893344..21650280 [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(chr22:18644790-21800471) copy number loss DiGeorge syndrome [RCV002280730] Chr22:18644790..21800471 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21798907) copy number loss DiGeorge syndrome [RCV002280731] Chr22:18648866..21798907 [GRCh37]
Chr22:22q11.21
pathogenic
NM_152906.7(TANGO2):c.265G>T (p.Gly89Cys) single nucleotide variant Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV001761392] Chr22:20052584 [GRCh38]
Chr22:20040107 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.803G>A (p.Arg268Lys) single nucleotide variant not provided [RCV002001688] Chr22:20064634 [GRCh38]
Chr22:20052157 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.800C>T (p.Thr267Ile) single nucleotide variant not provided [RCV001988841] Chr22:20064631 [GRCh38]
Chr22:20052154 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.133G>A (p.Glu45Lys) single nucleotide variant not provided [RCV002040403] Chr22:20043431 [GRCh38]
Chr22:20030954 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.780G>C (p.Lys260Asn) single nucleotide variant not provided [RCV002025873] Chr22:20064611 [GRCh38]
Chr22:20052134 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.50C>T (p.Ala17Val) single nucleotide variant not provided [RCV001864506] Chr22:20036848 [GRCh38]
Chr22:20024371 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.73A>C (p.Asn25His) single nucleotide variant not provided [RCV002045556] Chr22:20043371 [GRCh38]
Chr22:20030894 [GRCh37]
Chr22:22q11.21
uncertain significance
Single allele deletion Chromosome 22q11.2 deletion syndrome, distal [RCV003232577] Chr22:18985739..21081116 [GRCh38]
Chr22:22q11.21
pathogenic
NM_152906.7(TANGO2):c.415A>G (p.Asn139Asp) single nucleotide variant not provided [RCV001968823] Chr22:20055977 [GRCh38]
Chr22:20043500 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.439G>A (p.Val147Ile) single nucleotide variant not provided [RCV001984586] Chr22:20056001 [GRCh38]
Chr22:20043524 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.605+4A>C single nucleotide variant not provided [RCV001893281] Chr22:20061687 [GRCh38]
Chr22:20049210 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.632A>G (p.Asp211Gly) single nucleotide variant not provided [RCV002006331] Chr22:20063364 [GRCh38]
Chr22:20050887 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.662T>G (p.Leu221Arg) single nucleotide variant not provided [RCV001986989] Chr22:20063394 [GRCh38]
Chr22:20050917 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.145+5G>A single nucleotide variant not provided [RCV002039605] Chr22:20043448 [GRCh38]
Chr22:20030971 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.427C>G (p.Pro143Ala) single nucleotide variant not provided [RCV001913550] Chr22:20055989 [GRCh38]
Chr22:20043512 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.263G>A (p.Arg88Gln) single nucleotide variant Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV001823463]|not provided [RCV001869814] Chr22:20052582 [GRCh38]
Chr22:20040105 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.37G>C (p.Val13Leu) single nucleotide variant not provided [RCV001984344] Chr22:20036835 [GRCh38]
Chr22:20024358 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.381-2A>G single nucleotide variant not provided [RCV001968807] Chr22:20055941 [GRCh38]
Chr22:20043464 [GRCh37]
Chr22:22q11.21
likely pathogenic
NM_152906.7(TANGO2):c.605C>T (p.Ala202Val) single nucleotide variant not provided [RCV001969282] Chr22:20061683 [GRCh38]
Chr22:20049206 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.472G>A (p.Ala158Thr) single nucleotide variant not provided [RCV001986453] Chr22:20061550 [GRCh38]
Chr22:20049073 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.607C>T (p.Gln203Ter) single nucleotide variant not provided [RCV001946912] Chr22:20063339 [GRCh38]
Chr22:20050862 [GRCh37]
Chr22:22q11.21
pathogenic
NM_152906.7(TANGO2):c.602A>C (p.Glu201Ala) single nucleotide variant not provided [RCV001880314] Chr22:20061680 [GRCh38]
Chr22:20049203 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.692G>T (p.Cys231Phe) single nucleotide variant Inborn genetic diseases [RCV003289161]|not provided [RCV001888506] Chr22:20063424 [GRCh38]
Chr22:20050947 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.548C>T (p.Ala183Val) single nucleotide variant Inborn genetic diseases [RCV002550356]|not provided [RCV001942716] Chr22:20061626 [GRCh38]
Chr22:20049149 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.132C>A (p.Asn44Lys) single nucleotide variant not provided [RCV002027163] Chr22:20043430 [GRCh38]
Chr22:20030953 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.265+6G>A single nucleotide variant not provided [RCV001879218] Chr22:20052590 [GRCh38]
Chr22:20040113 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.557A>G (p.Lys186Arg) single nucleotide variant not provided [RCV001981101] Chr22:20061635 [GRCh38]
Chr22:20049158 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.497A>G (p.Lys166Arg) single nucleotide variant not provided [RCV001961960] Chr22:20061575 [GRCh38]
Chr22:20049098 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.119G>A (p.Trp40Ter) single nucleotide variant not provided [RCV001897283] Chr22:20043417 [GRCh38]
Chr22:20030940 [GRCh37]
Chr22:22q11.21
pathogenic
NM_152906.7(TANGO2):c.445A>G (p.Thr149Ala) single nucleotide variant not provided [RCV001881308] Chr22:20056007 [GRCh38]
Chr22:20043530 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.397G>A (p.Val133Ile) single nucleotide variant Inborn genetic diseases [RCV003346715]|not provided [RCV001887971] Chr22:20055959 [GRCh38]
Chr22:20043482 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.689G>A (p.Arg230His) single nucleotide variant not provided [RCV002032111] Chr22:20063421 [GRCh38]
Chr22:20050944 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.10A>C (p.Ile4Leu) single nucleotide variant not provided [RCV002031995] Chr22:20036808 [GRCh38]
Chr22:20024331 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.196A>G (p.Thr66Ala) single nucleotide variant not provided [RCV002028262] Chr22:20052515 [GRCh38]
Chr22:20040038 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.508G>A (p.Gly170Arg) single nucleotide variant not provided [RCV002015032] Chr22:20061586 [GRCh38]
Chr22:20049109 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.265+7C>T single nucleotide variant not provided [RCV001978014] Chr22:20052591 [GRCh38]
Chr22:20040114 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.400A>G (p.Ile134Val) single nucleotide variant not provided [RCV001952033] Chr22:20055962 [GRCh38]
Chr22:20043485 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.331A>G (p.Met111Val) single nucleotide variant not provided [RCV001880656] Chr22:20053502 [GRCh38]
Chr22:20041025 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.350A>G (p.Asn117Ser) single nucleotide variant Inborn genetic diseases [RCV002571288]|not provided [RCV001995231] Chr22:20053521 [GRCh38]
Chr22:20041044 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.571_572delinsCT (p.Ala191Leu) indel not provided [RCV001876840] Chr22:20061649..20061650 [GRCh38]
Chr22:20049172..20049173 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.788C>T (p.Ser263Phe) single nucleotide variant not provided [RCV001994167] Chr22:20064619 [GRCh38]
Chr22:20052142 [GRCh37]
Chr22:22q11.21
uncertain significance
NC_000022.10:g.(?_18900688)_(21351637_?)dup duplication DiGeorge syndrome [RCV001952526] Chr22:18900688..21351637 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.575G>C (p.Ser192Thr) single nucleotide variant not provided [RCV001936144] Chr22:20061653 [GRCh38]
Chr22:20049176 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.536A>G (p.Glu179Gly) single nucleotide variant not provided [RCV001902955] Chr22:20061614 [GRCh38]
Chr22:20049137 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.236C>T (p.Pro79Leu) single nucleotide variant not provided [RCV001974101] Chr22:20052555 [GRCh38]
Chr22:20040078 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.719C>G (p.Thr240Ser) single nucleotide variant Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV003224586]|not provided [RCV001905226] Chr22:20064550 [GRCh38]
Chr22:20052073 [GRCh37]
Chr22:22q11.21
uncertain significance
NC_000022.10:g.(?_19747167)_(20052185_?)dup duplication Primary dilated cardiomyopathy [RCV002011984] Chr22:19747167..20052185 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.588G>A (p.Val196=) single nucleotide variant not provided [RCV002035718] Chr22:20061666 [GRCh38]
Chr22:20049189 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.446C>T (p.Thr149Met) single nucleotide variant not provided [RCV001867651] Chr22:20056008 [GRCh38]
Chr22:20043531 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.734A>G (p.Asp245Gly) single nucleotide variant not provided [RCV001921762] Chr22:20064565 [GRCh38]
Chr22:20052088 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.792C>A (p.His264Gln) single nucleotide variant not provided [RCV002012165] Chr22:20064623 [GRCh38]
Chr22:20052146 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.98C>T (p.Pro33Leu) single nucleotide variant not provided [RCV002046119] Chr22:20043396 [GRCh38]
Chr22:20030919 [GRCh37]
Chr22:22q11.21
uncertain significance
NC_000022.10:g.(?_20030858)_(20052185_?)del deletion not provided [RCV001951054] Chr22:20030858..20052185 [GRCh37]
Chr22:22q11.21
pathogenic
NM_152906.7(TANGO2):c.57-1G>A single nucleotide variant not provided [RCV001989193] Chr22:20043354 [GRCh38]
Chr22:20030877 [GRCh37]
Chr22:22q11.21
likely pathogenic
NM_152906.7(TANGO2):c.620C>T (p.Pro207Leu) single nucleotide variant not provided [RCV002036508] Chr22:20063352 [GRCh38]
Chr22:20050875 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.538C>T (p.Arg180Trp) single nucleotide variant Inborn genetic diseases [RCV002625357]|not provided [RCV001989334] Chr22:20061616 [GRCh38]
Chr22:20049139 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.763C>T (p.Arg255Cys) single nucleotide variant not provided [RCV001906244] Chr22:20064594 [GRCh38]
Chr22:20052117 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.674C>T (p.Ala225Val) single nucleotide variant not provided [RCV001977244] Chr22:20063406 [GRCh38]
Chr22:20050929 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.673G>A (p.Ala225Thr) single nucleotide variant not provided [RCV001904757] Chr22:20063405 [GRCh38]
Chr22:20050928 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.571G>A (p.Ala191Thr) single nucleotide variant Inborn genetic diseases [RCV002563511]|TANGO2-related condition [RCV003418242]|not provided [RCV001980007] Chr22:20061649 [GRCh38]
Chr22:20049172 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.518T>C (p.Leu173Pro) single nucleotide variant not provided [RCV001905281] Chr22:20061596 [GRCh38]
Chr22:20049119 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.407A>G (p.Tyr136Cys) single nucleotide variant not provided [RCV002018509] Chr22:20055969 [GRCh38]
Chr22:20043492 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.763C>A (p.Arg255Ser) single nucleotide variant not provided [RCV002033700] Chr22:20064594 [GRCh38]
Chr22:20052117 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.31C>T (p.Arg11Cys) single nucleotide variant not provided [RCV001980253] Chr22:20036829 [GRCh38]
Chr22:20024352 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.320A>G (p.Lys107Arg) single nucleotide variant not provided [RCV001884377] Chr22:20053491 [GRCh38]
Chr22:20041014 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.539G>A (p.Arg180Gln) single nucleotide variant not provided [RCV001901657] Chr22:20061617 [GRCh38]
Chr22:20049140 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.298G>A (p.Val100Met) single nucleotide variant not provided [RCV001921250] Chr22:20053469 [GRCh38]
Chr22:20040992 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.260G>C (p.Gly87Ala) single nucleotide variant not provided [RCV002046671] Chr22:20052579 [GRCh38]
Chr22:20040102 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.338G>A (p.Gly113Asp) single nucleotide variant not provided [RCV001897648] Chr22:20053509 [GRCh38]
Chr22:20041032 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.381-4G>A single nucleotide variant not provided [RCV002186196] Chr22:20055939 [GRCh38]
Chr22:20043462 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.741C>T (p.Asp247=) single nucleotide variant not provided [RCV002185105] Chr22:20064572 [GRCh38]
Chr22:20052095 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.605+16C>G single nucleotide variant not provided [RCV002191081] Chr22:20061699 [GRCh38]
Chr22:20049222 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.605+20dup duplication not provided [RCV002110742] Chr22:20061702..20061703 [GRCh38]
Chr22:20049225..20049226 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.711-16C>G single nucleotide variant not provided [RCV002191329] Chr22:20064526 [GRCh38]
Chr22:20052049 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.372C>T (p.Ala124=) single nucleotide variant not provided [RCV002107820] Chr22:20053543 [GRCh38]
Chr22:20041066 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.57-9C>G single nucleotide variant not provided [RCV002147860] Chr22:20043346 [GRCh38]
Chr22:20030869 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.738G>A (p.Ala246=) single nucleotide variant not provided [RCV002169946] Chr22:20064569 [GRCh38]
Chr22:20052092 [GRCh37]
Chr22:22q11.21
benign|likely benign
NM_152906.7(TANGO2):c.605+11G>A single nucleotide variant not provided [RCV002126676] Chr22:20061694 [GRCh38]
Chr22:20049217 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.153C>T (p.Asp51=) single nucleotide variant not provided [RCV002109054] Chr22:20052472 [GRCh38]
Chr22:20039995 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.822G>A (p.Leu274=) single nucleotide variant not provided [RCV002194854] Chr22:20064653 [GRCh38]
Chr22:20052176 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.517C>T (p.Leu173Phe) single nucleotide variant not provided [RCV002114844] Chr22:20061595 [GRCh38]
Chr22:20049118 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.710+17G>C single nucleotide variant not provided [RCV002168982] Chr22:20063459 [GRCh38]
Chr22:20050982 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.237G>A (p.Pro79=) single nucleotide variant not provided [RCV002188212] Chr22:20052556 [GRCh38]
Chr22:20040079 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.606-16TC[2] microsatellite not provided [RCV002193430] Chr22:20063322..20063323 [GRCh38]
Chr22:20050845..20050846 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.711-18del deletion not provided [RCV002134554] Chr22:20064522 [GRCh38]
Chr22:20052045 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.266-11C>G single nucleotide variant not provided [RCV002196380] Chr22:20053426 [GRCh38]
Chr22:20040949 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.710+13C>T single nucleotide variant not provided [RCV002125354] Chr22:20063455 [GRCh38]
Chr22:20050978 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.146-15T>C single nucleotide variant not provided [RCV002148501] Chr22:20052450 [GRCh38]
Chr22:20039973 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.145+13G>T single nucleotide variant not provided [RCV002216283] Chr22:20043456 [GRCh38]
Chr22:20030979 [GRCh37]
Chr22:22q11.21
benign
NM_152906.7(TANGO2):c.266-12C>T single nucleotide variant not provided [RCV002166328] Chr22:20053425 [GRCh38]
Chr22:20040948 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.711-11C>G single nucleotide variant not provided [RCV002134731]|not specified [RCV002271721] Chr22:20064531 [GRCh38]
Chr22:20052054 [GRCh37]
Chr22:22q11.21
likely benign|uncertain significance
NM_152906.7(TANGO2):c.828C>T (p.Ser276=) single nucleotide variant not provided [RCV002212626] Chr22:20064659 [GRCh38]
Chr22:20052182 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.381-8G>T single nucleotide variant not provided [RCV002088716] Chr22:20055935 [GRCh38]
Chr22:20043458 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.396C>T (p.Asp132=) single nucleotide variant not provided [RCV002168154] Chr22:20055958 [GRCh38]
Chr22:20043481 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.229C>T (p.Leu77=) single nucleotide variant not provided [RCV002196575] Chr22:20052548 [GRCh38]
Chr22:20040071 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.648C>T (p.Tyr216=) single nucleotide variant not provided [RCV002125027] Chr22:20063380 [GRCh38]
Chr22:20050903 [GRCh37]
Chr22:22q11.21
benign
NM_152906.7(TANGO2):c.56+18C>T single nucleotide variant not provided [RCV002134244] Chr22:20036872 [GRCh38]
Chr22:20024395 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.297C>T (p.Asp99=) single nucleotide variant not provided [RCV002173710] Chr22:20053468 [GRCh38]
Chr22:20040991 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.18T>C (p.Phe6=) single nucleotide variant not provided [RCV002171943] Chr22:20036816 [GRCh38]
Chr22:20024339 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.451+11C>T single nucleotide variant not provided [RCV002080482] Chr22:20056024 [GRCh38]
Chr22:20043547 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.627C>T (p.Ile209=) single nucleotide variant not provided [RCV002169962] Chr22:20063359 [GRCh38]
Chr22:20050882 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.605+10C>T single nucleotide variant not provided [RCV002095202] Chr22:20061693 [GRCh38]
Chr22:20049216 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.266-17C>A single nucleotide variant not provided [RCV002147071] Chr22:20053420 [GRCh38]
Chr22:20040943 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.471C>T (p.Asn157=) single nucleotide variant not provided [RCV002175654] Chr22:20061549 [GRCh38]
Chr22:20049072 [GRCh37]
Chr22:22q11.21
likely benign
GRCh37/hg19 22q11.21(chr22:18884514-21484289)x1 copy number loss See cases [RCV002246175] Chr22:18884514..21484289 [GRCh37]
Chr22:22q11.21
pathogenic
NM_152906.7(TANGO2):c.309G>A (p.Leu103=) single nucleotide variant not provided [RCV002198939] Chr22:20053480 [GRCh38]
Chr22:20041003 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.452-4A>T single nucleotide variant not provided [RCV002140372] Chr22:20061526 [GRCh38]
Chr22:20049049 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.605+10C>A single nucleotide variant not provided [RCV002164738] Chr22:20061693 [GRCh38]
Chr22:20049216 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.710+8A>C single nucleotide variant not provided [RCV002154031] Chr22:20063450 [GRCh38]
Chr22:20050973 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.57-10C>T single nucleotide variant not provided [RCV002137534] Chr22:20043345 [GRCh38]
Chr22:20030868 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.145+18C>A single nucleotide variant not provided [RCV002160073] Chr22:20043461 [GRCh38]
Chr22:20030984 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.380+16G>T single nucleotide variant not provided [RCV002175905] Chr22:20053567 [GRCh38]
Chr22:20041090 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.465G>A (p.Leu155=) single nucleotide variant not provided [RCV002181675] Chr22:20061543 [GRCh38]
Chr22:20049066 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.609G>A (p.Gln203=) single nucleotide variant not provided [RCV002098582] Chr22:20063341 [GRCh38]
Chr22:20050864 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.747C>T (p.His249=) single nucleotide variant not provided [RCV002176078] Chr22:20064578 [GRCh38]
Chr22:20052101 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.459C>T (p.Tyr153=) single nucleotide variant not provided [RCV002156953] Chr22:20061537 [GRCh38]
Chr22:20049060 [GRCh37]
Chr22:22q11.21
likely benign
Single allele deletion Velocardiofacial syndrome [RCV002247726] Chr22:18948677..21110520 [GRCh38]
Chr22:22q11.21
pathogenic
NM_152906.7(TANGO2):c.452-19C>T single nucleotide variant not provided [RCV002082673] Chr22:20061511 [GRCh38]
Chr22:20049034 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.48C>T (p.Asn16=) single nucleotide variant not provided [RCV002101229] Chr22:20036846 [GRCh38]
Chr22:20024369 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.549G>A (p.Ala183=) single nucleotide variant not provided [RCV002144386] Chr22:20061627 [GRCh38]
Chr22:20049150 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.447G>A (p.Thr149=) single nucleotide variant not provided [RCV002135730] Chr22:20056009 [GRCh38]
Chr22:20043532 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.56+11C>T single nucleotide variant not provided [RCV002121627] Chr22:20036865 [GRCh38]
Chr22:20024388 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.570C>T (p.Ile190=) single nucleotide variant not provided [RCV002143030] Chr22:20061648 [GRCh38]
Chr22:20049171 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.675G>A (p.Ala225=) single nucleotide variant not provided [RCV002120742] Chr22:20063407 [GRCh38]
Chr22:20050930 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.56+13C>T single nucleotide variant not provided [RCV002155699] Chr22:20036867 [GRCh38]
Chr22:20024390 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.417C>T (p.Asn139=) single nucleotide variant not provided [RCV002177805] Chr22:20055979 [GRCh38]
Chr22:20043502 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.380+19G>T single nucleotide variant not provided [RCV002136078] Chr22:20053570 [GRCh38]
Chr22:20041093 [GRCh37]
Chr22:22q11.21
benign
NM_152906.7(TANGO2):c.438C>T (p.Ile146=) single nucleotide variant not provided [RCV002082495] Chr22:20056000 [GRCh38]
Chr22:20043523 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.145+15G>A single nucleotide variant not provided [RCV002161313] Chr22:20043458 [GRCh38]
Chr22:20030981 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.348C>T (p.Tyr116=) single nucleotide variant not provided [RCV003115933] Chr22:20053519 [GRCh38]
Chr22:20041042 [GRCh37]
Chr22:22q11.21
likely benign
NC_000022.10:g.(?_20039968)_(20043556_?)del deletion not provided [RCV003113751] Chr22:20039968..20043556 [GRCh37]
Chr22:22q11.21
pathogenic
NC_000022.10:g.(?_20039968)_(20052185_?)dup duplication not provided [RCV003113752] Chr22:20039968..20052185 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.287T>G (p.Leu96Arg) single nucleotide variant Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV003152831] Chr22:20053458 [GRCh38]
Chr22:20040981 [GRCh37]
Chr22:22q11.21
uncertain significance
L20R variation Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV003152416]   pathogenic
NM_152906.7(TANGO2):c.56+122_56+131del deletion not provided [RCV003443017]|not specified [RCV002271955] Chr22:20036973..20036982 [GRCh38]
Chr22:20024496..20024505 [GRCh37]
Chr22:22q11.21
benign|uncertain significance
GRCh37/hg19 22q11.21(chr22:18644790-21798907) copy number loss DiGeorge syndrome [RCV002280728] Chr22:18644790..21798907 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21798907) copy number loss DiGeorge syndrome [RCV002280729] Chr22:18916842..21798907 [GRCh37]
Chr22:22q11.21
pathogenic
NM_152906.7(TANGO2):c.280del (p.His94fs) deletion Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV002290394] Chr22:20053449 [GRCh38]
Chr22:20040972 [GRCh37]
Chr22:22q11.21
pathogenic|likely 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
NM_152906.7(TANGO2):c.430G>A (p.Asp144Asn) single nucleotide variant Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV002266600] Chr22:20055992 [GRCh38]
Chr22:20043515 [GRCh37]
Chr22:22q11.21
uncertain significance
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
NM_152906.7(TANGO2):c.359A>G (p.Asn120Ser) single nucleotide variant Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV002290265] Chr22:20053530 [GRCh38]
Chr22:20041053 [GRCh37]
Chr22:22q11.21
uncertain significance
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
NM_152906.7(TANGO2):c.443T>G (p.Leu148Trp) single nucleotide variant Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV003140871] Chr22:20056005 [GRCh38]
Chr22:20043528 [GRCh37]
Chr22:22q11.21
uncertain significance
TANGO2, 1-BP DEL, 280C deletion Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV003152415]   pathogenic
NM_152906.7(TANGO2):c.161A>T (p.Glu54Val) single nucleotide variant not provided [RCV003011975] Chr22:20052480 [GRCh38]
Chr22:20040003 [GRCh37]
Chr22:22q11.21
uncertain significance
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(chr22:18644543-21800797)x1 copy number loss not provided [RCV002473959] Chr22:18644543..21800797 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916843-21075592)x1 copy number loss not provided [RCV002474582] Chr22:18916843..21075592 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916843-21465659)x1 copy number loss not provided [RCV002474586] Chr22:18916843..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916843-21915509)x1 copy number loss not provided [RCV002473950] Chr22:18916843..21915509 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916843-21800471)x1 copy number loss not provided [RCV002472532] Chr22:18916843..21800471 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18644791-21041014)x1 copy number loss not provided [RCV002474720] Chr22:18644791..21041014 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916843-20311858)x1 copy number loss not provided [RCV002473556] Chr22:18916843..20311858 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18648867-20311858)x3 copy number gain not provided [RCV002472883] Chr22:18648867..20311858 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:19336598-21208828)x1 copy number loss not provided [RCV002474524] Chr22:19336598..21208828 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916843-21033401)x1 copy number loss not provided [RCV002472535] Chr22:18916843..21033401 [GRCh37]
Chr22:22q11.21
pathogenic
R88* single nucleotide variant Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV003152417]   pathogenic
NG_046857.1:g.52540C>G single nucleotide variant Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV003152418]   pathogenic
GRCh37/hg19 22q11.21(chr22:18916843-21798907)x3 copy number gain not provided [RCV002472508] Chr22:18916843..21798907 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916843-21804563)x3 copy number gain not provided [RCV002472525] Chr22:18916843..21804563 [GRCh37]
Chr22:22q11.21
pathogenic
NM_152906.7(TANGO2):c.649G>A (p.Val217Met) single nucleotide variant not provided [RCV003032461] Chr22:20063381 [GRCh38]
Chr22:20050904 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.698G>A (p.Gly233Asp) single nucleotide variant not provided [RCV002842178] Chr22:20063430 [GRCh38]
Chr22:20050953 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:18834445-21414817)x1 copy number loss not provided [RCV002512210] Chr22:18834445..21414817 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18894078-21414817)x1 copy number loss not provided [RCV002512212] Chr22:18894078..21414817 [GRCh37]
Chr22:22q11.21
pathogenic
NM_152906.7(TANGO2):c.623C>A (p.Ala208Asp) single nucleotide variant not provided [RCV002750599] Chr22:20063355 [GRCh38]
Chr22:20050878 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.391G>A (p.Gly131Arg) single nucleotide variant not provided [RCV002948043] Chr22:20055953 [GRCh38]
Chr22:20043476 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.95G>C (p.Arg32Pro) single nucleotide variant Inborn genetic diseases [RCV002864251] Chr22:20043393 [GRCh38]
Chr22:20030916 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.56+6C>T single nucleotide variant not provided [RCV002972024] Chr22:20036860 [GRCh38]
Chr22:20024383 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.107T>G (p.Leu36Ter) single nucleotide variant not provided [RCV003015072] Chr22:20043405 [GRCh38]
Chr22:20030928 [GRCh37]
Chr22:22q11.21
pathogenic
NM_152906.7(TANGO2):c.494G>A (p.Arg165Lys) single nucleotide variant not provided [RCV002734828] Chr22:20061572 [GRCh38]
Chr22:20049095 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:18893888-21570386)x1 copy number loss not provided [RCV002512211] Chr22:18893888..21570386 [GRCh37]
Chr22:22q11.21
pathogenic
NM_152906.7(TANGO2):c.56+12G>T single nucleotide variant not provided [RCV002618051] Chr22:20036866 [GRCh38]
Chr22:20024389 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.564G>A (p.Val188=) single nucleotide variant not provided [RCV002881165] Chr22:20061642 [GRCh38]
Chr22:20049165 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.523C>T (p.Leu175=) single nucleotide variant not provided [RCV003014894] Chr22:20061601 [GRCh38]
Chr22:20049124 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.787T>C (p.Ser263Pro) single nucleotide variant not provided [RCV002615542] Chr22:20064618 [GRCh38]
Chr22:20052141 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.780G>A (p.Lys260=) single nucleotide variant not provided [RCV002994110] Chr22:20064611 [GRCh38]
Chr22:20052134 [GRCh37]
Chr22:22q11.21
likely benign
GRCh37/hg19 22q11.21(chr22:19184000-21416024)x1 copy number loss not provided [RCV002512213] Chr22:19184000..21416024 [GRCh37]
Chr22:22q11.21
pathogenic
NM_152906.7(TANGO2):c.96A>T (p.Arg32=) single nucleotide variant not provided [RCV002685841] Chr22:20043394 [GRCh38]
Chr22:20030917 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.539G>C (p.Arg180Pro) single nucleotide variant not provided [RCV003097615] Chr22:20061617 [GRCh38]
Chr22:20049140 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.132C>T (p.Asn44=) single nucleotide variant not provided [RCV002740521] Chr22:20043430 [GRCh38]
Chr22:20030953 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.266-15G>C single nucleotide variant not provided [RCV002825172] Chr22:20053422 [GRCh38]
Chr22:20040945 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.621G>A (p.Pro207=) single nucleotide variant not provided [RCV002785240] Chr22:20063353 [GRCh38]
Chr22:20050876 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.36T>A (p.Pro12=) single nucleotide variant not provided [RCV002889793] Chr22:20036834 [GRCh38]
Chr22:20024357 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.451+9G>C single nucleotide variant not provided [RCV002867623] Chr22:20056022 [GRCh38]
Chr22:20043545 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.265+17G>A single nucleotide variant not provided [RCV002705460] Chr22:20052601 [GRCh38]
Chr22:20040124 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.87C>G (p.Phe29Leu) single nucleotide variant not provided [RCV002705486] Chr22:20043385 [GRCh38]
Chr22:20030908 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.606-10C>A single nucleotide variant not provided [RCV002637679] Chr22:20063328 [GRCh38]
Chr22:20050851 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.57-20G>A single nucleotide variant not provided [RCV003038115] Chr22:20043335 [GRCh38]
Chr22:20030858 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.774G>A (p.Met258Ile) single nucleotide variant not provided [RCV002569932] Chr22:20064605 [GRCh38]
Chr22:20052128 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.64T>C (p.Leu22=) single nucleotide variant not provided [RCV002824920] Chr22:20043362 [GRCh38]
Chr22:20030885 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.716A>G (p.Asn239Ser) single nucleotide variant not provided [RCV002913438] Chr22:20064547 [GRCh38]
Chr22:20052070 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.56+9C>T single nucleotide variant not provided [RCV002781550] Chr22:20036863 [GRCh38]
Chr22:20024386 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.781G>C (p.Asp261His) single nucleotide variant not provided [RCV002695632] Chr22:20064612 [GRCh38]
Chr22:20052135 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.360C>T (p.Asn120=) single nucleotide variant not provided [RCV002825047] Chr22:20053531 [GRCh38]
Chr22:20041054 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.49G>A (p.Ala17Thr) single nucleotide variant not provided [RCV002795824] Chr22:20036847 [GRCh38]
Chr22:20024370 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.140T>C (p.Leu47Pro) single nucleotide variant not provided [RCV002659066] Chr22:20043438 [GRCh38]
Chr22:20030961 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.764G>A (p.Arg255His) single nucleotide variant not provided [RCV002666864] Chr22:20064595 [GRCh38]
Chr22:20052118 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.330T>C (p.Ser110=) single nucleotide variant not provided [RCV002745262] Chr22:20053501 [GRCh38]
Chr22:20041024 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.57-16T>A single nucleotide variant not provided [RCV002745705] Chr22:20043339 [GRCh38]
Chr22:20030862 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.354C>T (p.Gly118=) single nucleotide variant not provided [RCV002666656] Chr22:20053525 [GRCh38]
Chr22:20041048 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.265+15G>A single nucleotide variant not provided [RCV002958198] Chr22:20052599 [GRCh38]
Chr22:20040122 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.114C>T (p.Asp38=) single nucleotide variant not provided [RCV002627160] Chr22:20043412 [GRCh38]
Chr22:20030935 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.146-17A>G single nucleotide variant not provided [RCV002643460] Chr22:20052448 [GRCh38]
Chr22:20039971 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.559G>T (p.Asp187Tyr) single nucleotide variant not provided [RCV003081962] Chr22:20061637 [GRCh38]
Chr22:20049160 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.742G>A (p.Gly248Ser) single nucleotide variant Inborn genetic diseases [RCV002930234] Chr22:20064573 [GRCh38]
Chr22:20052096 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.674C>A (p.Ala225Glu) single nucleotide variant not provided [RCV002710712] Chr22:20063406 [GRCh38]
Chr22:20050929 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.380+18G>A single nucleotide variant not provided [RCV002710431] Chr22:20053569 [GRCh38]
Chr22:20041092 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.257G>A (p.Arg86Gln) single nucleotide variant not provided [RCV002594900] Chr22:20052576 [GRCh38]
Chr22:20040099 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.57-1G>C single nucleotide variant not provided [RCV002508866] Chr22:20043354 [GRCh38]
Chr22:20030877 [GRCh37]
Chr22:22q11.21
likely pathogenic
NM_152906.7(TANGO2):c.569_592dup (p.Leu197_Asn198insIleAlaSerLeuLeuAspValLeu) duplication not provided [RCV003022592] Chr22:20061635..20061636 [GRCh38]
Chr22:20049158..20049159 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.56+4A>G single nucleotide variant not provided [RCV002851116] Chr22:20036858 [GRCh38]
Chr22:20024381 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.650T>C (p.Val217Ala) single nucleotide variant Inborn genetic diseases [RCV002765097] Chr22:20063382 [GRCh38]
Chr22:20050905 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.606-20C>T single nucleotide variant not provided [RCV002790624] Chr22:20063318 [GRCh38]
Chr22:20050841 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.52T>A (p.Tyr18Asn) single nucleotide variant not provided [RCV002828757] Chr22:20036850 [GRCh38]
Chr22:20024373 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.318G>A (p.Leu106=) single nucleotide variant not provided [RCV002643085] Chr22:20053489 [GRCh38]
Chr22:20041012 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.682T>C (p.Cys228Arg) single nucleotide variant not provided [RCV002801929] Chr22:20063414 [GRCh38]
Chr22:20050937 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.60C>T (p.Leu20=) single nucleotide variant not provided [RCV002667538] Chr22:20043358 [GRCh38]
Chr22:20030881 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.711-19G>A single nucleotide variant not provided [RCV002851538] Chr22:20064523 [GRCh38]
Chr22:20052046 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.455C>T (p.Thr152Ile) single nucleotide variant not provided [RCV003065854] Chr22:20061533 [GRCh38]
Chr22:20049056 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.145+14C>A single nucleotide variant not provided [RCV002650185] Chr22:20043457 [GRCh38]
Chr22:20030980 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.328T>G (p.Ser110Ala) single nucleotide variant not provided [RCV002720960] Chr22:20053499 [GRCh38]
Chr22:20041022 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.721A>G (p.Ile241Val) single nucleotide variant not provided [RCV002646271] Chr22:20064552 [GRCh38]
Chr22:20052075 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.145+1G>A single nucleotide variant not provided [RCV002631343] Chr22:20043444 [GRCh38]
Chr22:20030967 [GRCh37]
Chr22:22q11.21
likely pathogenic
NM_152906.7(TANGO2):c.672C>T (p.Tyr224=) single nucleotide variant not provided [RCV002577286] Chr22:20063404 [GRCh38]
Chr22:20050927 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.737C>T (p.Ala246Val) single nucleotide variant Inborn genetic diseases [RCV003357976]|not provided [RCV002671691] Chr22:20064568 [GRCh38]
Chr22:20052091 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.56+10T>C single nucleotide variant not provided [RCV002627691] Chr22:20036864 [GRCh38]
Chr22:20024387 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.759T>C (p.Thr253=) single nucleotide variant not provided [RCV003047086] Chr22:20064590 [GRCh38]
Chr22:20052113 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.6C>T (p.Cys2=) single nucleotide variant not provided [RCV002646960] Chr22:20036804 [GRCh38]
Chr22:20024327 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.56+5C>A single nucleotide variant not provided [RCV003045470] Chr22:20036859 [GRCh38]
Chr22:20024382 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.399C>A (p.Val133=) single nucleotide variant not provided [RCV002632216] Chr22:20055961 [GRCh38]
Chr22:20043484 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.679G>A (p.Val227Met) single nucleotide variant not provided [RCV003009228] Chr22:20063411 [GRCh38]
Chr22:20050934 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.625A>G (p.Ile209Val) single nucleotide variant not provided [RCV003027731] Chr22:20063357 [GRCh38]
Chr22:20050880 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.601G>A (p.Glu201Lys) single nucleotide variant Inborn genetic diseases [RCV002720086]|not provided [RCV002720087] Chr22:20061679 [GRCh38]
Chr22:20049202 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.473C>T (p.Ala158Val) single nucleotide variant not provided [RCV002631128] Chr22:20061551 [GRCh38]
Chr22:20049074 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.465G>T (p.Leu155=) single nucleotide variant not provided [RCV002895226] Chr22:20061543 [GRCh38]
Chr22:20049066 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.730G>C (p.Val244Leu) single nucleotide variant not provided [RCV002580127] Chr22:20064561 [GRCh38]
Chr22:20052084 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.719C>T (p.Thr240Ile) single nucleotide variant not provided [RCV002720171] Chr22:20064550 [GRCh38]
Chr22:20052073 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.756C>T (p.Phe252=) single nucleotide variant not provided [RCV002650481] Chr22:20064587 [GRCh38]
Chr22:20052110 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.56+12G>A single nucleotide variant not provided [RCV002649739] Chr22:20036866 [GRCh38]
Chr22:20024389 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.130A>T (p.Asn44Tyr) single nucleotide variant not provided [RCV002899902] Chr22:20043428 [GRCh38]
Chr22:20030951 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.57-13T>C single nucleotide variant not provided [RCV002962916] Chr22:20043342 [GRCh38]
Chr22:20030865 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.670T>G (p.Tyr224Asp) single nucleotide variant not provided [RCV002658188] Chr22:20063402 [GRCh38]
Chr22:20050925 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.373G>A (p.Asp125Asn) single nucleotide variant not provided [RCV002634546] Chr22:20053544 [GRCh38]
Chr22:20041067 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.145+17G>T single nucleotide variant not provided [RCV002676868] Chr22:20043460 [GRCh38]
Chr22:20030983 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.266-5T>C single nucleotide variant not provided [RCV002603806] Chr22:20053432 [GRCh38]
Chr22:20040955 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.146-11A>G single nucleotide variant not provided [RCV002725421] Chr22:20052454 [GRCh38]
Chr22:20039977 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV002607549] Chr22:20036799 [GRCh38]
Chr22:20024322 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.606-7C>T single nucleotide variant not provided [RCV002653063] Chr22:20063331 [GRCh38]
Chr22:20050854 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.666C>A (p.Ser222Arg) single nucleotide variant not provided [RCV003067917] Chr22:20063398 [GRCh38]
Chr22:20050921 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.688C>T (p.Arg230Cys) single nucleotide variant not provided [RCV002634764] Chr22:20063420 [GRCh38]
Chr22:20050943 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.228C>T (p.Tyr76=) single nucleotide variant not provided [RCV002653306] Chr22:20052547 [GRCh38]
Chr22:20040070 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.187G>T (p.Gly63Cys) single nucleotide variant not provided [RCV002676754] Chr22:20052506 [GRCh38]
Chr22:20040029 [GRCh37]
Chr22:22q11.21
uncertain significance
Single allele deletion See cases [RCV003154622] Chr22:18893886..21386103 [GRCh37]
Chr22:22q11.21
pathogenic
NC_000022.11:g.20041466_20075200del deletion Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome [RCV003225640] Chr22:20041466..20075200 [GRCh38]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-20311810) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV003319586] Chr22:18916842..20311810 [GRCh37]
Chr22:22q11.21
pathogenic
NM_152906.7(TANGO2):c.422G>A (p.Gly141Glu) single nucleotide variant Inborn genetic diseases [RCV003309664] Chr22:20055984 [GRCh38]
Chr22:20043507 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh38/hg38 22q11.21(chr22:18985739-21081116)x1 copy number loss DiGeorge syndrome [RCV003327705] Chr22:18985739..21081116 [GRCh38]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18893838-21416074)x3 copy number gain Chromosome 22q11.2 deletion syndrome, distal [RCV003329514]|Velocardiofacial syndrome [RCV003329513] Chr22:18893838..21416074 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18893838-20508931)x3 copy number gain Chromosome 22q11.2 deletion syndrome, distal [RCV003329495] Chr22:18893838..20508931 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18893838-20307561)x1 copy number loss DiGeorge syndrome [RCV003329526] Chr22:18893838..20307561 [GRCh37]
Chr22:22q11.21
pathogenic
NM_152906.7(TANGO2):c.594C>T (p.Asn198=) single nucleotide variant not provided [RCV003569335] Chr22:20061672 [GRCh38]
Chr22:20049195 [GRCh37]
Chr22:22q11.21
likely benign
GRCh37/hg19 22q11.21(chr22:18893888-21563415)x1 copy number loss not provided [RCV003457105] Chr22:18893888..21563415 [GRCh37]
Chr22:22q11.21
pathogenic
NM_152906.7(TANGO2):c.45A>G (p.Lys15=) single nucleotide variant not provided [RCV003873695] Chr22:20036843 [GRCh38]
Chr22:20024366 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.681G>C (p.Val227=) single nucleotide variant not provided [RCV003570714] Chr22:20063413 [GRCh38]
Chr22:20050936 [GRCh37]
Chr22:22q11.21
likely benign
GRCh37/hg19 22q11.21(chr22:18916843-20716903)x3 copy number gain not provided [RCV003485235] Chr22:18916843..20716903 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:17832142-20945625)x1 copy number loss not provided [RCV003483389] Chr22:17832142..20945625 [GRCh37]
Chr22:22q11.1-11.21
pathogenic
Single allele deletion not provided [RCV003448686] Chr22:20028654..20061617 [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_152906.7(TANGO2):c.549G>T (p.Ala183=) single nucleotide variant not provided [RCV003431632] Chr22:20061627 [GRCh38]
Chr22:20049150 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.710+143G>C single nucleotide variant not provided [RCV003441402] Chr22:20063585 [GRCh38]
Chr22:20051108 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.265+12G>A single nucleotide variant not provided [RCV003693014] Chr22:20052596 [GRCh38]
Chr22:20040119 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.710+16G>T single nucleotide variant not provided [RCV003693057] Chr22:20063458 [GRCh38]
Chr22:20050981 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.474G>A (p.Ala158=) single nucleotide variant not provided [RCV003825698] Chr22:20061552 [GRCh38]
Chr22:20049075 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.189C>T (p.Gly63=) single nucleotide variant not provided [RCV003696737] Chr22:20052508 [GRCh38]
Chr22:20040031 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.710+20G>A single nucleotide variant not provided [RCV003828585] Chr22:20063462 [GRCh38]
Chr22:20050985 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.710+8dup duplication not provided [RCV003849304] Chr22:20063449..20063450 [GRCh38]
Chr22:20050972..20050973 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.192C>T (p.Ile64=) single nucleotide variant not provided [RCV003576810] Chr22:20052511 [GRCh38]
Chr22:20040034 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.266-2A>G single nucleotide variant not provided [RCV003687471] Chr22:20053435 [GRCh38]
Chr22:20040958 [GRCh37]
Chr22:22q11.21
likely pathogenic
NM_152906.7(TANGO2):c.436dup (p.Ile146fs) duplication not provided [RCV003578386] Chr22:20055997..20055998 [GRCh38]
Chr22:20043520..20043521 [GRCh37]
Chr22:22q11.21
pathogenic
NM_152906.7(TANGO2):c.145+12T>C single nucleotide variant not provided [RCV003689990] Chr22:20043455 [GRCh38]
Chr22:20030978 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.381-14C>T single nucleotide variant not provided [RCV003714859] Chr22:20055929 [GRCh38]
Chr22:20043452 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.307T>G (p.Leu103Val) single nucleotide variant not provided [RCV003882430] Chr22:20053478 [GRCh38]
Chr22:20041001 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.447G>C (p.Thr149=) single nucleotide variant not provided [RCV003688169] Chr22:20056009 [GRCh38]
Chr22:20043532 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.265+7C>G single nucleotide variant not provided [RCV003574386] Chr22:20052591 [GRCh38]
Chr22:20040114 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.57-4G>A single nucleotide variant not provided [RCV003716393] Chr22:20043351 [GRCh38]
Chr22:20030874 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.478C>T (p.Leu160=) single nucleotide variant not provided [RCV003691858] Chr22:20061556 [GRCh38]
Chr22:20049079 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.605+18G>T single nucleotide variant not provided [RCV003691856] Chr22:20061701 [GRCh38]
Chr22:20049224 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.528G>A (p.Glu176=) single nucleotide variant not provided [RCV003660564] Chr22:20061606 [GRCh38]
Chr22:20049129 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.491G>A (p.Trp164Ter) single nucleotide variant not provided [RCV003686410] Chr22:20061569 [GRCh38]
Chr22:20049092 [GRCh37]
Chr22:22q11.21
pathogenic
NM_152906.7(TANGO2):c.174A>C (p.Gly58=) single nucleotide variant not provided [RCV003688672] Chr22:20052493 [GRCh38]
Chr22:20040016 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.198A>G (p.Thr66=) single nucleotide variant not provided [RCV003689481] Chr22:20052517 [GRCh38]
Chr22:20040040 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.380+19G>A single nucleotide variant not provided [RCV003690551] Chr22:20053570 [GRCh38]
Chr22:20041093 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.298G>C (p.Val100Leu) single nucleotide variant not provided [RCV003665330] Chr22:20053469 [GRCh38]
Chr22:20040992 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_152906.7(TANGO2):c.765T>C (p.Arg255=) single nucleotide variant not provided [RCV003850084] Chr22:20064596 [GRCh38]
Chr22:20052119 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.265+14G>C single nucleotide variant not provided [RCV003580717] Chr22:20052598 [GRCh38]
Chr22:20040121 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.605+8G>A single nucleotide variant not provided [RCV003834161] Chr22:20061691 [GRCh38]
Chr22:20049214 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.610C>T (p.Leu204=) single nucleotide variant not provided [RCV003851551] Chr22:20063342 [GRCh38]
Chr22:20050865 [GRCh37]
Chr22:22q11.21
likely benign
NM_152906.7(TANGO2):c.282C>T (p.His94=) single nucleotide variant not provided [RCV003852626] Chr22:20053453 [GRCh38]
Chr22:20040976 [GRCh37]
Chr22:22q11.21
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:9748
Count of miRNA genes:1108
Interacting mature miRNAs:1427
Transcripts:ENST00000327374, ENST00000398042, ENST00000399807, ENST00000401833, ENST00000401886, ENST00000411907, ENST00000420290, ENST00000430807, ENST00000432198, ENST00000432883, ENST00000434168, ENST00000434570, ENST00000444651, ENST00000447208, ENST00000450019, ENST00000450664, ENST00000456048, ENST00000462579, ENST00000471707, ENST00000475446, ENST00000476940, ENST00000479679, ENST00000484373, ENST00000485715, ENST00000490121, ENST00000490583
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
RH93311  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,052,781 - 20,052,868UniSTSGRCh37
Build 362218,432,781 - 18,432,868RGDNCBI36
Celera223,903,985 - 3,904,072RGD
Cytogenetic Map22q11.21UniSTS
HuRef223,673,202 - 3,673,289UniSTS
GeneMap99-GB4 RH Map2217.11UniSTS
D22S933  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,017,025 - 20,017,291UniSTSGRCh37
Build 362218,397,025 - 18,397,291RGDNCBI36
Celera223,868,227 - 3,868,493RGD
Cytogenetic Map22q11.21UniSTS
HuRef223,637,666 - 3,637,932UniSTS
D22S1602  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,012,257 - 20,012,363UniSTSGRCh37
Build 362218,392,257 - 18,392,363RGDNCBI36
Celera223,863,460 - 3,863,566RGD
HuRef223,632,919 - 3,633,025UniSTS
STS-T76997  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map1p35-p36.1UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1q21UniSTS
GeneMap99-GB4 RH Map1246.39UniSTS
A009D48  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map22q11.21UniSTS
GeneMap99-GB4 RH Map2217.11UniSTS
RH36905  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map18p11.3-p11.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map3q27-q28UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map3q26.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map3q12.2-q12.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q12-q13.1UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map9q31.1UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map10q21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map10q24.1UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map10q25-q26UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map16q22.1UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
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Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS
G32462  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,054,529 - 20,054,650UniSTSGRCh37
GRCh37980,258,983 - 80,259,097UniSTSGRCh37
Celera223,905,733 - 3,905,854UniSTS
Celera950,836,106 - 50,836,220UniSTS
CeleraY2,679,522 - 2,679,644UniSTS
Cytogenetic Map22q11.21UniSTS
HuRef5151,804,289 - 151,804,411UniSTS
HuRef223,674,950 - 3,675,071UniSTS
HuRefY4,094,902 - 4,095,024UniSTS
HuRef950,091,259 - 50,091,373UniSTS


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 pharyngeal arch
High
Medium 1145 2747 1221 100 1391 71 2156 1155 1476 216 461 1380 42 669 1525 2
Low 1294 244 505 524 560 394 2200 1042 2258 203 999 233 133 1 535 1263 4 2
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_046857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001283106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001283116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001283129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001283148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001283154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001283179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001283186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001283199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001283215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001283235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001283248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_104274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_104275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA319727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AA969089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL713640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF726547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG685068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI544307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI911898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM013784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM048105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP193987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP303570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU173566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX345246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD675132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CF552364 (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
  CR456355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR627452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA176876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB021425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC301369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC303300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC315148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC318353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC332363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC349456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY135099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000327374   ⟹   ENSP00000332721
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,021,110 - 20,067,164 (+)Ensembl
RefSeq Acc Id: ENST00000398042   ⟹   ENSP00000381122
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,021,072 - 20,065,926 (+)Ensembl
RefSeq Acc Id: ENST00000399807   ⟹   ENSP00000382706
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,021,089 - 20,065,862 (+)Ensembl
RefSeq Acc Id: ENST00000401833   ⟹   ENSP00000384827
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,021,139 - 20,065,364 (+)Ensembl
RefSeq Acc Id: ENST00000401886   ⟹   ENSP00000385662
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,017,014 - 20,065,358 (+)Ensembl
RefSeq Acc Id: ENST00000411907
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,021,069 - 20,061,656 (+)Ensembl
RefSeq Acc Id: ENST00000420290   ⟹   ENSP00000396182
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,021,069 - 20,065,925 (+)Ensembl
RefSeq Acc Id: ENST00000430807   ⟹   ENSP00000403432
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,021,127 - 20,063,421 (+)Ensembl
RefSeq Acc Id: ENST00000432198   ⟹   ENSP00000413850
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,017,031 - 20,052,584 (+)Ensembl
RefSeq Acc Id: ENST00000432883   ⟹   ENSP00000402926
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,021,069 - 20,065,925 (+)Ensembl
RefSeq Acc Id: ENST00000434168   ⟹   ENSP00000411602
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,021,155 - 20,063,411 (+)Ensembl
RefSeq Acc Id: ENST00000434570   ⟹   ENSP00000391262
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,021,069 - 20,065,925 (+)Ensembl
RefSeq Acc Id: ENST00000444651   ⟹   ENSP00000395816
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,036,759 - 20,064,907 (+)Ensembl
RefSeq Acc Id: ENST00000447208   ⟹   ENSP00000389797
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,021,069 - 20,065,925 (+)Ensembl
RefSeq Acc Id: ENST00000450019   ⟹   ENSP00000402966
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,021,107 - 20,065,264 (+)Ensembl
RefSeq Acc Id: ENST00000450664   ⟹   ENSP00000415450
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,021,102 - 20,061,576 (+)Ensembl
RefSeq Acc Id: ENST00000456048   ⟹   ENSP00000403645
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,021,069 - 20,065,925 (+)Ensembl
RefSeq Acc Id: ENST00000462579
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,036,759 - 20,061,802 (+)Ensembl
RefSeq Acc Id: ENST00000471707
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,017,014 - 20,056,204 (+)Ensembl
RefSeq Acc Id: ENST00000475446
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,017,031 - 20,048,180 (+)Ensembl
RefSeq Acc Id: ENST00000476940
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,063,573 - 20,064,929 (+)Ensembl
RefSeq Acc Id: ENST00000479679
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,021,122 - 20,053,542 (+)Ensembl
RefSeq Acc Id: ENST00000484373
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,036,760 - 20,056,241 (+)Ensembl
RefSeq Acc Id: ENST00000485715
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,036,760 - 20,063,383 (+)Ensembl
RefSeq Acc Id: ENST00000490121
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,055,943 - 20,061,227 (+)Ensembl
RefSeq Acc Id: ENST00000490583
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,053,435 - 20,064,959 (+)Ensembl
RefSeq Acc Id: NM_001283106   ⟹   NP_001270035
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,017,023 - 20,067,164 (+)NCBI
HuRef223,625,185 - 3,673,870 (+)NCBI
CHM1_12220,004,232 - 20,054,393 (+)NCBI
T2T-CHM13v2.02220,394,641 - 20,444,782 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001283116   ⟹   NP_001270045
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,110 - 20,067,164 (+)NCBI
HuRef223,625,185 - 3,673,870 (+)NCBI
CHM1_12220,008,301 - 20,054,393 (+)NCBI
T2T-CHM13v2.02220,398,728 - 20,444,782 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001283129   ⟹   NP_001270058
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,110 - 20,067,164 (+)NCBI
HuRef223,625,185 - 3,673,870 (+)NCBI
CHM1_12220,008,301 - 20,054,393 (+)NCBI
T2T-CHM13v2.02220,398,728 - 20,444,782 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001283148   ⟹   NP_001270077
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,110 - 20,067,164 (+)NCBI
HuRef223,625,185 - 3,673,870 (+)NCBI
CHM1_12220,008,301 - 20,054,393 (+)NCBI
T2T-CHM13v2.02220,398,728 - 20,444,782 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001283154   ⟹   NP_001270083
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,110 - 20,067,164 (+)NCBI
HuRef223,625,185 - 3,673,870 (+)NCBI
CHM1_12220,008,301 - 20,054,393 (+)NCBI
T2T-CHM13v2.02220,398,728 - 20,444,782 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001283179   ⟹   NP_001270108
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,017,023 - 20,067,164 (+)NCBI
HuRef223,625,185 - 3,673,870 (+)NCBI
CHM1_12220,004,232 - 20,054,393 (+)NCBI
T2T-CHM13v2.02220,394,641 - 20,444,782 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001283186   ⟹   NP_001270115
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,110 - 20,067,164 (+)NCBI
HuRef223,625,185 - 3,673,870 (+)NCBI
CHM1_12220,008,301 - 20,054,393 (+)NCBI
T2T-CHM13v2.02220,398,728 - 20,444,782 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001283199   ⟹   NP_001270128
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,110 - 20,067,164 (+)NCBI
HuRef223,625,185 - 3,673,870 (+)NCBI
CHM1_12220,008,301 - 20,054,393 (+)NCBI
T2T-CHM13v2.02220,398,728 - 20,444,782 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001283215   ⟹   NP_001270144
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,110 - 20,067,164 (+)NCBI
HuRef223,625,185 - 3,673,870 (+)NCBI
CHM1_12220,008,301 - 20,054,393 (+)NCBI
T2T-CHM13v2.02220,398,728 - 20,444,782 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001283235   ⟹   NP_001270164
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,110 - 20,067,164 (+)NCBI
HuRef223,625,185 - 3,673,870 (+)NCBI
CHM1_12220,008,301 - 20,054,393 (+)NCBI
T2T-CHM13v2.02220,398,728 - 20,444,782 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001283248   ⟹   NP_001270177
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,110 - 20,067,164 (+)NCBI
HuRef223,625,185 - 3,673,870 (+)NCBI
CHM1_12220,008,301 - 20,054,393 (+)NCBI
T2T-CHM13v2.02220,398,728 - 20,444,782 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322141   ⟹   NP_001309070
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,110 - 20,067,164 (+)NCBI
CHM1_12220,008,301 - 20,054,393 (+)NCBI
T2T-CHM13v2.02220,398,728 - 20,444,782 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322142   ⟹   NP_001309071
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,110 - 20,067,164 (+)NCBI
CHM1_12220,008,301 - 20,054,393 (+)NCBI
T2T-CHM13v2.02220,398,728 - 20,444,782 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322143   ⟹   NP_001309072
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,110 - 20,067,164 (+)NCBI
CHM1_12220,008,340 - 20,054,393 (+)NCBI
T2T-CHM13v2.02220,398,728 - 20,444,782 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322144   ⟹   NP_001309073
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,110 - 20,067,164 (+)NCBI
CHM1_12220,008,301 - 20,054,393 (+)NCBI
T2T-CHM13v2.02220,398,728 - 20,444,782 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322145   ⟹   NP_001309074
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,110 - 20,067,164 (+)NCBI
CHM1_12220,008,340 - 20,054,393 (+)NCBI
T2T-CHM13v2.02220,398,728 - 20,444,782 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322146   ⟹   NP_001309075
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,110 - 20,067,164 (+)NCBI
CHM1_12220,008,340 - 20,054,393 (+)NCBI
T2T-CHM13v2.02220,398,728 - 20,444,782 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322147   ⟹   NP_001309076
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,110 - 20,067,164 (+)NCBI
CHM1_12220,008,301 - 20,054,393 (+)NCBI
T2T-CHM13v2.02220,398,728 - 20,444,782 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322148   ⟹   NP_001309077
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,110 - 20,067,164 (+)NCBI
CHM1_12220,008,301 - 20,054,393 (+)NCBI
T2T-CHM13v2.02220,398,728 - 20,444,782 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322149   ⟹   NP_001309078
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,110 - 20,067,164 (+)NCBI
CHM1_12220,008,301 - 20,054,393 (+)NCBI
T2T-CHM13v2.02220,398,728 - 20,444,782 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322150   ⟹   NP_001309079
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,110 - 20,067,164 (+)NCBI
CHM1_12220,008,301 - 20,054,393 (+)NCBI
T2T-CHM13v2.02220,398,728 - 20,444,782 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322153   ⟹   NP_001309082
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,110 - 20,067,164 (+)NCBI
CHM1_12220,008,301 - 20,054,393 (+)NCBI
T2T-CHM13v2.02220,398,728 - 20,444,782 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322155   ⟹   NP_001309084
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,110 - 20,067,164 (+)NCBI
CHM1_12220,008,340 - 20,054,393 (+)NCBI
T2T-CHM13v2.02220,398,728 - 20,444,782 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322160   ⟹   NP_001309089
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,110 - 20,067,164 (+)NCBI
CHM1_12220,008,340 - 20,054,393 (+)NCBI
T2T-CHM13v2.02220,398,728 - 20,444,782 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322163   ⟹   NP_001309092
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,017,023 - 20,067,164 (+)NCBI
CHM1_12220,004,232 - 20,054,393 (+)NCBI
T2T-CHM13v2.02220,394,641 - 20,444,782 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322166   ⟹   NP_001309095
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,110 - 20,067,164 (+)NCBI
CHM1_12220,008,340 - 20,054,393 (+)NCBI
T2T-CHM13v2.02220,398,728 - 20,444,782 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322167   ⟹   NP_001309096
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,110 - 20,067,164 (+)NCBI
CHM1_12220,008,340 - 20,054,393 (+)NCBI
T2T-CHM13v2.02220,398,728 - 20,444,782 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322169   ⟹   NP_001309098
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,110 - 20,067,164 (+)NCBI
CHM1_12220,008,301 - 20,054,393 (+)NCBI
T2T-CHM13v2.02220,398,728 - 20,444,782 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322171   ⟹   NP_001309100
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,110 - 20,067,164 (+)NCBI
CHM1_12220,008,340 - 20,054,393 (+)NCBI
T2T-CHM13v2.02220,398,728 - 20,444,782 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322172   ⟹   NP_001309101
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,110 - 20,067,164 (+)NCBI
CHM1_12220,008,340 - 20,054,393 (+)NCBI
T2T-CHM13v2.02220,398,728 - 20,444,782 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322173   ⟹   NP_001309102
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,110 - 20,067,164 (+)NCBI
CHM1_12220,008,301 - 20,054,393 (+)NCBI
T2T-CHM13v2.02220,398,728 - 20,444,782 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322174   ⟹   NP_001309103
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,017,023 - 20,067,164 (+)NCBI
CHM1_12220,004,232 - 20,054,393 (+)NCBI
T2T-CHM13v2.02220,394,641 - 20,444,782 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322175   ⟹   NP_001309104
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,110 - 20,067,164 (+)NCBI
CHM1_12220,008,340 - 20,054,393 (+)NCBI
T2T-CHM13v2.02220,398,728 - 20,444,782 (+)NCBI
Sequence:
RefSeq Acc Id: NM_152906   ⟹   NP_690870
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,110 - 20,067,164 (+)NCBI
GRCh372220,004,554 - 20,053,449 (+)NCBI
Build 362218,388,631 - 18,433,447 (+)NCBI Archive
Celera223,859,834 - 3,904,651 (+)RGD
HuRef223,625,185 - 3,673,870 (+)NCBI
CHM1_12220,008,301 - 20,054,393 (+)NCBI
T2T-CHM13v2.02220,398,728 - 20,444,782 (+)NCBI
Sequence:
RefSeq Acc Id: NR_104274
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,110 - 20,067,164 (+)NCBI
HuRef223,625,185 - 3,673,870 (+)NCBI
CHM1_12220,008,301 - 20,054,393 (+)NCBI
T2T-CHM13v2.02220,398,728 - 20,444,782 (+)NCBI
Sequence:
RefSeq Acc Id: NR_104275
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,110 - 20,067,164 (+)NCBI
HuRef223,625,185 - 3,673,870 (+)NCBI
CHM1_12220,008,301 - 20,054,393 (+)NCBI
T2T-CHM13v2.02220,398,728 - 20,444,782 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136206
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,110 - 20,067,164 (+)NCBI
CHM1_12220,008,340 - 20,054,393 (+)NCBI
T2T-CHM13v2.02220,398,728 - 20,444,782 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136211
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,110 - 20,067,164 (+)NCBI
CHM1_12220,008,340 - 20,054,393 (+)NCBI
T2T-CHM13v2.02220,398,728 - 20,444,782 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136212
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,108 - 20,067,164 (+)NCBI
CHM1_12220,008,340 - 20,054,393 (+)NCBI
T2T-CHM13v2.02220,398,726 - 20,444,782 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028577   ⟹   XP_016884066
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,108 - 20,067,164 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028579   ⟹   XP_016884068
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,017,023 - 20,067,164 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028580   ⟹   XP_016884069
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,017,023 - 20,067,164 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028585   ⟹   XP_016884074
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,108 - 20,067,164 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028586   ⟹   XP_016884075
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,110 - 20,067,164 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047441118   ⟹   XP_047297074
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,108 - 20,067,164 (+)NCBI
RefSeq Acc Id: XM_047441119   ⟹   XP_047297075
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,108 - 20,067,164 (+)NCBI
RefSeq Acc Id: XM_047441120   ⟹   XP_047297076
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,110 - 20,067,164 (+)NCBI
RefSeq Acc Id: XM_047441121   ⟹   XP_047297077
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,017,023 - 20,067,164 (+)NCBI
RefSeq Acc Id: XM_047441122   ⟹   XP_047297078
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,110 - 20,067,164 (+)NCBI
RefSeq Acc Id: XM_047441123   ⟹   XP_047297079
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,108 - 20,063,442 (+)NCBI
RefSeq Acc Id: XM_047441124   ⟹   XP_047297080
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,017,023 - 20,067,164 (+)NCBI
RefSeq Acc Id: XM_047441125   ⟹   XP_047297081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,108 - 20,063,427 (+)NCBI
RefSeq Acc Id: XM_047441126   ⟹   XP_047297082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,108 - 20,063,426 (+)NCBI
RefSeq Acc Id: XM_047441127   ⟹   XP_047297083
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,108 - 20,062,518 (+)NCBI
RefSeq Acc Id: XM_047441128   ⟹   XP_047297084
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,108 - 20,063,417 (+)NCBI
RefSeq Acc Id: XM_047441129   ⟹   XP_047297085
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,108 - 20,061,489 (+)NCBI
RefSeq Acc Id: XM_047441130   ⟹   XP_047297086
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,108 - 20,063,442 (+)NCBI
RefSeq Acc Id: XM_047441131   ⟹   XP_047297087
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,108 - 20,067,164 (+)NCBI
RefSeq Acc Id: XM_047441132   ⟹   XP_047297088
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,110 - 20,067,164 (+)NCBI
RefSeq Acc Id: XM_054325063   ⟹   XP_054181038
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02220,398,726 - 20,444,782 (+)NCBI
RefSeq Acc Id: XM_054325064   ⟹   XP_054181039
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02220,398,726 - 20,444,782 (+)NCBI
RefSeq Acc Id: XM_054325065   ⟹   XP_054181040
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02220,394,641 - 20,444,782 (+)NCBI
RefSeq Acc Id: XM_054325066   ⟹   XP_054181041
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02220,394,641 - 20,444,782 (+)NCBI
RefSeq Acc Id: XM_054325067   ⟹   XP_054181042
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02220,398,728 - 20,444,782 (+)NCBI
RefSeq Acc Id: XM_054325068   ⟹   XP_054181043
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02220,398,726 - 20,444,782 (+)NCBI
RefSeq Acc Id: XM_054325069   ⟹   XP_054181044
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02220,394,641 - 20,444,782 (+)NCBI
RefSeq Acc Id: XM_054325070   ⟹   XP_054181045
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02220,414,373 - 20,444,782 (+)NCBI
RefSeq Acc Id: XM_054325071   ⟹   XP_054181046
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02220,414,373 - 20,441,061 (+)NCBI
RefSeq Acc Id: XM_054325072   ⟹   XP_054181047
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02220,394,641 - 20,444,782 (+)NCBI
RefSeq Acc Id: XM_054325073   ⟹   XP_054181048
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02220,398,728 - 20,444,782 (+)NCBI
RefSeq Acc Id: XM_054325074   ⟹   XP_054181049
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02220,398,726 - 20,444,782 (+)NCBI
RefSeq Acc Id: XM_054325075   ⟹   XP_054181050
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02220,414,373 - 20,441,046 (+)NCBI
RefSeq Acc Id: XM_054325076   ⟹   XP_054181051
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02220,414,373 - 20,441,045 (+)NCBI
RefSeq Acc Id: XM_054325077   ⟹   XP_054181052
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02220,414,373 - 20,440,138 (+)NCBI
RefSeq Acc Id: XM_054325078   ⟹   XP_054181053
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02220,414,373 - 20,441,036 (+)NCBI
RefSeq Acc Id: XM_054325079   ⟹   XP_054181054
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02220,414,373 - 20,439,102 (+)NCBI
RefSeq Acc Id: XM_054325080   ⟹   XP_054181055
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02220,414,373 - 20,441,061 (+)NCBI
RefSeq Acc Id: XM_054325081   ⟹   XP_054181056
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02220,398,726 - 20,444,782 (+)NCBI
RefSeq Acc Id: XM_054325082   ⟹   XP_054181057
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02220,398,728 - 20,444,782 (+)NCBI
RefSeq Acc Id: XM_054325083   ⟹   XP_054181058
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02220,414,373 - 20,439,102 (+)NCBI
RefSeq Acc Id: XM_054325084   ⟹   XP_054181059
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02220,414,373 - 20,439,176 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001270035 (Get FASTA)   NCBI Sequence Viewer  
  NP_001270045 (Get FASTA)   NCBI Sequence Viewer  
  NP_001270058 (Get FASTA)   NCBI Sequence Viewer  
  NP_001270077 (Get FASTA)   NCBI Sequence Viewer  
  NP_001270083 (Get FASTA)   NCBI Sequence Viewer  
  NP_001270108 (Get FASTA)   NCBI Sequence Viewer  
  NP_001270115 (Get FASTA)   NCBI Sequence Viewer  
  NP_001270128 (Get FASTA)   NCBI Sequence Viewer  
  NP_001270144 (Get FASTA)   NCBI Sequence Viewer  
  NP_001270164 (Get FASTA)   NCBI Sequence Viewer  
  NP_001270177 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309070 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309071 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309072 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309073 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309074 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309075 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309076 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309077 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309078 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309079 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309082 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309084 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309089 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309092 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309095 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309096 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309098 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309100 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309101 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309102 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309103 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309104 (Get FASTA)   NCBI Sequence Viewer  
  NP_690870 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884066 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884068 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884069 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884074 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884075 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297074 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297075 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297076 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297077 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297078 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297079 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297080 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297081 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297082 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297083 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297084 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297085 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297086 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297087 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297088 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181038 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181039 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181040 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181041 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181042 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181043 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181044 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181045 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181046 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181047 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181048 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181049 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181050 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181051 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181052 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181053 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181054 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181055 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181056 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181057 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181058 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181059 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH41339 (Get FASTA)   NCBI Sequence Viewer  
  BAC03902 (Get FASTA)   NCBI Sequence Viewer  
  BAF82551 (Get FASTA)   NCBI Sequence Viewer  
  BAH12013 (Get FASTA)   NCBI Sequence Viewer  
  BAH12491 (Get FASTA)   NCBI Sequence Viewer  
  BAH12691 (Get FASTA)   NCBI Sequence Viewer  
  BAH12819 (Get FASTA)   NCBI Sequence Viewer  
  BAH13398 (Get FASTA)   NCBI Sequence Viewer  
  BAH13466 (Get FASTA)   NCBI Sequence Viewer  
  BAH14391 (Get FASTA)   NCBI Sequence Viewer  
  BAH14427 (Get FASTA)   NCBI Sequence Viewer  
  CAD28454 (Get FASTA)   NCBI Sequence Viewer  
  CAG30241 (Get FASTA)   NCBI Sequence Viewer  
  CAH10533 (Get FASTA)   NCBI Sequence Viewer  
  EAX03001 (Get FASTA)   NCBI Sequence Viewer  
  EAX03002 (Get FASTA)   NCBI Sequence Viewer  
  EAX03003 (Get FASTA)   NCBI Sequence Viewer  
  EAX03004 (Get FASTA)   NCBI Sequence Viewer  
  EAX03005 (Get FASTA)   NCBI Sequence Viewer  
  EAX03006 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000332721
  ENSP00000332721.4
  ENSP00000381122
  ENSP00000381122.2
  ENSP00000382706.3
  ENSP00000384827
  ENSP00000384827.1
  ENSP00000385662
  ENSP00000385662.1
  ENSP00000389797
  ENSP00000389797.3
  ENSP00000391262
  ENSP00000391262.2
  ENSP00000395816.1
  ENSP00000396182
  ENSP00000396182.3
  ENSP00000402926
  ENSP00000402926.2
  ENSP00000402966.1
  ENSP00000403432.1
  ENSP00000403645
  ENSP00000403645.2
  ENSP00000411602.1
  ENSP00000413850.1
  ENSP00000415450.1
GenBank Protein Q6ICL3 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_690870   ⟸   NM_152906
- Peptide Label: isoform a
- UniProtKB: Q8TCS0 (UniProtKB/Swiss-Prot),   Q8NAL0 (UniProtKB/Swiss-Prot),   Q8IW05 (UniProtKB/Swiss-Prot),   D3DX23 (UniProtKB/Swiss-Prot),   B7Z730 (UniProtKB/Swiss-Prot),   B7Z583 (UniProtKB/Swiss-Prot),   B7WNV6 (UniProtKB/Swiss-Prot),   A8MUE9 (UniProtKB/Swiss-Prot),   Q96M16 (UniProtKB/Swiss-Prot),   Q6ICL3 (UniProtKB/Swiss-Prot),   A8K1E7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001270035   ⟸   NM_001283106
- Peptide Label: isoform a
- UniProtKB: Q8TCS0 (UniProtKB/Swiss-Prot),   Q8NAL0 (UniProtKB/Swiss-Prot),   Q8IW05 (UniProtKB/Swiss-Prot),   D3DX23 (UniProtKB/Swiss-Prot),   B7Z730 (UniProtKB/Swiss-Prot),   B7Z583 (UniProtKB/Swiss-Prot),   B7WNV6 (UniProtKB/Swiss-Prot),   A8MUE9 (UniProtKB/Swiss-Prot),   Q96M16 (UniProtKB/Swiss-Prot),   Q6ICL3 (UniProtKB/Swiss-Prot),   A8K1E7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001270108   ⟸   NM_001283179
- Peptide Label: isoform d
- UniProtKB: Q6ICL3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001270083   ⟸   NM_001283154
- Peptide Label: isoform c
- UniProtKB: B7Z9Q5 (UniProtKB/TrEMBL),   B7Z4V5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001270128   ⟸   NM_001283199
- Peptide Label: isoform e
- UniProtKB: A0A0A0MSI5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001270058   ⟸   NM_001283129
- Peptide Label: isoform b
- UniProtKB: A8K1E7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001270144   ⟸   NM_001283215
- Peptide Label: isoform f
- UniProtKB: Q6ICL3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001270045   ⟸   NM_001283116
- Peptide Label: isoform a
- UniProtKB: Q8TCS0 (UniProtKB/Swiss-Prot),   Q8NAL0 (UniProtKB/Swiss-Prot),   Q8IW05 (UniProtKB/Swiss-Prot),   D3DX23 (UniProtKB/Swiss-Prot),   B7Z730 (UniProtKB/Swiss-Prot),   B7Z583 (UniProtKB/Swiss-Prot),   B7WNV6 (UniProtKB/Swiss-Prot),   A8MUE9 (UniProtKB/Swiss-Prot),   Q96M16 (UniProtKB/Swiss-Prot),   Q6ICL3 (UniProtKB/Swiss-Prot),   A8K1E7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001270077   ⟸   NM_001283148
- Peptide Label: isoform c
- UniProtKB: B7Z9Q5 (UniProtKB/TrEMBL),   B7Z4V5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001270164   ⟸   NM_001283235
- Peptide Label: isoform g
- UniProtKB: Q6ICL3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001270115   ⟸   NM_001283186
- Peptide Label: isoform d
- UniProtKB: Q6ICL3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001270177   ⟸   NM_001283248
- Peptide Label: isoform h
- UniProtKB: B7Z4A5 (UniProtKB/TrEMBL),   C9JKN2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309092   ⟸   NM_001322163
- Peptide Label: isoform d
- UniProtKB: Q6ICL3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001309103   ⟸   NM_001322174
- Peptide Label: isoform g
- UniProtKB: Q6ICL3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001309077   ⟸   NM_001322148
- Peptide Label: isoform n
- UniProtKB: Q6ICL3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001309070   ⟸   NM_001322141
- Peptide Label: isoform i
- Sequence:
RefSeq Acc Id: NP_001309073   ⟸   NM_001322144
- Peptide Label: isoform l
- UniProtKB: B7Z4V5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309078   ⟸   NM_001322149
- Peptide Label: isoform r
- Sequence:
RefSeq Acc Id: NP_001309079   ⟸   NM_001322150
- Peptide Label: isoform o
- Sequence:
RefSeq Acc Id: NP_001309102   ⟸   NM_001322173
- Peptide Label: isoform g
- UniProtKB: Q6ICL3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001309076   ⟸   NM_001322147
- Peptide Label: isoform m
- Sequence:
RefSeq Acc Id: NP_001309071   ⟸   NM_001322142
- Peptide Label: isoform j
- UniProtKB: A8K1E7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309082   ⟸   NM_001322153
- Peptide Label: isoform o
- Sequence:
RefSeq Acc Id: NP_001309098   ⟸   NM_001322169
- Peptide Label: isoform q
- Sequence:
RefSeq Acc Id: NP_001309101   ⟸   NM_001322172
- Peptide Label: isoform g
- UniProtKB: Q6ICL3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001309089   ⟸   NM_001322160
- Peptide Label: isoform p
- Sequence:
RefSeq Acc Id: NP_001309104   ⟸   NM_001322175
- Peptide Label: isoform g
- UniProtKB: Q6ICL3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001309096   ⟸   NM_001322167
- Peptide Label: isoform d
- UniProtKB: Q6ICL3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001309072   ⟸   NM_001322143
- Peptide Label: isoform b
- UniProtKB: A8K1E7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309074   ⟸   NM_001322145
- Peptide Label: isoform m
- Sequence:
RefSeq Acc Id: NP_001309075   ⟸   NM_001322146
- Peptide Label: isoform k
- Sequence:
RefSeq Acc Id: NP_001309084   ⟸   NM_001322155
- Peptide Label: isoform o
- Sequence:
RefSeq Acc Id: NP_001309100   ⟸   NM_001322171
- Peptide Label: isoform g
- UniProtKB: Q6ICL3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001309095   ⟸   NM_001322166
- Peptide Label: isoform d
- UniProtKB: Q6ICL3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016884068   ⟸   XM_017028579
- Peptide Label: isoform X2
- UniProtKB: A8K1E7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016884069   ⟸   XM_017028580
- Peptide Label: isoform X2
- UniProtKB: A8K1E7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016884075   ⟸   XM_017028586
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016884066   ⟸   XM_017028577
- Peptide Label: isoform X2
- UniProtKB: A8K1E7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016884074   ⟸   XM_017028585
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: ENSP00000381122   ⟸   ENST00000398042
RefSeq Acc Id: ENSP00000382706   ⟸   ENST00000399807
RefSeq Acc Id: ENSP00000402966   ⟸   ENST00000450019
RefSeq Acc Id: ENSP00000415450   ⟸   ENST00000450664
RefSeq Acc Id: ENSP00000384827   ⟸   ENST00000401833
RefSeq Acc Id: ENSP00000385662   ⟸   ENST00000401886
RefSeq Acc Id: ENSP00000403645   ⟸   ENST00000456048
RefSeq Acc Id: ENSP00000395816   ⟸   ENST00000444651
RefSeq Acc Id: ENSP00000403432   ⟸   ENST00000430807
RefSeq Acc Id: ENSP00000332721   ⟸   ENST00000327374
RefSeq Acc Id: ENSP00000413850   ⟸   ENST00000432198
RefSeq Acc Id: ENSP00000402926   ⟸   ENST00000432883
RefSeq Acc Id: ENSP00000389797   ⟸   ENST00000447208
RefSeq Acc Id: ENSP00000396182   ⟸   ENST00000420290
RefSeq Acc Id: ENSP00000391262   ⟸   ENST00000434570
RefSeq Acc Id: ENSP00000411602   ⟸   ENST00000434168
RefSeq Acc Id: XP_047297077   ⟸   XM_047441121
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047297080   ⟸   XM_047441124
- Peptide Label: isoform X6
- UniProtKB: Q8TCS0 (UniProtKB/Swiss-Prot),   Q8NAL0 (UniProtKB/Swiss-Prot),   Q8IW05 (UniProtKB/Swiss-Prot),   Q6ICL3 (UniProtKB/Swiss-Prot),   D3DX23 (UniProtKB/Swiss-Prot),   B7Z730 (UniProtKB/Swiss-Prot),   B7Z583 (UniProtKB/Swiss-Prot),   B7WNV6 (UniProtKB/Swiss-Prot),   A8MUE9 (UniProtKB/Swiss-Prot),   Q96M16 (UniProtKB/Swiss-Prot),   A8K1E7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297074   ⟸   XM_047441118
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047297087   ⟸   XM_047441131
- Peptide Label: isoform X12
RefSeq Acc Id: XP_047297075   ⟸   XM_047441119
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047297079   ⟸   XM_047441123
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047297086   ⟸   XM_047441130
- Peptide Label: isoform X11
RefSeq Acc Id: XP_047297081   ⟸   XM_047441125
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047297082   ⟸   XM_047441126
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047297084   ⟸   XM_047441128
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047297083   ⟸   XM_047441127
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047297085   ⟸   XM_047441129
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047297078   ⟸   XM_047441122
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047297076   ⟸   XM_047441120
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047297088   ⟸   XM_047441132
- Peptide Label: isoform X13
- UniProtKB: A0A0A0MSI5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054181040   ⟸   XM_054325065
- Peptide Label: isoform X2
- UniProtKB: A8K1E7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054181044   ⟸   XM_054325069
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054181041   ⟸   XM_054325066
- Peptide Label: isoform X2
- UniProtKB: A8K1E7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054181047   ⟸   XM_054325072
- Peptide Label: isoform X6
- UniProtKB: Q8TCS0 (UniProtKB/Swiss-Prot),   Q8NAL0 (UniProtKB/Swiss-Prot),   Q8IW05 (UniProtKB/Swiss-Prot),   Q6ICL3 (UniProtKB/Swiss-Prot),   D3DX23 (UniProtKB/Swiss-Prot),   B7Z730 (UniProtKB/Swiss-Prot),   B7Z583 (UniProtKB/Swiss-Prot),   B7WNV6 (UniProtKB/Swiss-Prot),   A8MUE9 (UniProtKB/Swiss-Prot),   Q96M16 (UniProtKB/Swiss-Prot),   A8K1E7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054181038   ⟸   XM_054325063
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054181056   ⟸   XM_054325081
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054181043   ⟸   XM_054325068
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054181039   ⟸   XM_054325064
- Peptide Label: isoform X2
- UniProtKB: A8K1E7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054181049   ⟸   XM_054325074
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054181042   ⟸   XM_054325067
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054181057   ⟸   XM_054325082
- Peptide Label: isoform X13
- UniProtKB: A0A0A0MSI5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054181048   ⟸   XM_054325073
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054181045   ⟸   XM_054325070
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054181046   ⟸   XM_054325071
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054181055   ⟸   XM_054325080
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054181050   ⟸   XM_054325075
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054181051   ⟸   XM_054325076
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054181053   ⟸   XM_054325078
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054181052   ⟸   XM_054325077
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054181059   ⟸   XM_054325084
- Peptide Label: isoform X14
- UniProtKB: A8MWT1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054181054   ⟸   XM_054325079
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054181058   ⟸   XM_054325083
- Peptide Label: isoform X14
- UniProtKB: A8MWT1 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6ICL3-F1-model_v2 AlphaFold Q6ICL3 1-276 view protein structure

Promoters
RGD ID:6799716
Promoter ID:HG_KWN:41568
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000075314,   OTTHUMT00000318692,   OTTHUMT00000318727,   OTTHUMT00000318761,   OTTHUMT00000318880,   UC002ZRB.1,   UC010GRW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362218,384,116 - 18,384,616 (+)MPROMDB
RGD ID:6799722
Promoter ID:HG_KWN:41569
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000398042,   ENST00000399807,   ENST00000401833,   OTTHUMT00000318689,   OTTHUMT00000318726,   OTTHUMT00000318728,   OTTHUMT00000318729,   OTTHUMT00000318730,   OTTHUMT00000318732,   UC002ZRD.1,   UC002ZRE.1,   UC010GRX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362218,388,336 - 18,388,937 (+)MPROMDB
RGD ID:6799725
Promoter ID:HG_KWN:41571
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000318735,   OTTHUMT00000318762,   OTTHUMT00000319786,   OTTHUMT00000319787,   UC002ZRG.1,   UC002ZRH.1,   UC010GRY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362218,403,786 - 18,404,286 (+)MPROMDB
RGD ID:6799713
Promoter ID:HG_KWN:41572
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000318736
Position:
Human AssemblyChrPosition (strand)Source
Build 362218,420,091 - 18,420,591 (+)MPROMDB
RGD ID:6799714
Promoter ID:HG_KWN:41573
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000318737
Position:
Human AssemblyChrPosition (strand)Source
Build 362218,423,091 - 18,423,591 (+)MPROMDB
RGD ID:6799715
Promoter ID:HG_KWN:41574
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000318763
Position:
Human AssemblyChrPosition (strand)Source
Build 362218,431,116 - 18,431,616 (+)MPROMDB
RGD ID:13603260
Promoter ID:EPDNEW_H27811
Type:initiation region
Name:TANGO2_2
Description:transport and golgi organization 2 homolog
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27812  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,017,023 - 20,017,083EPDNEW
RGD ID:13603256
Promoter ID:EPDNEW_H27812
Type:initiation region
Name:TANGO2_1
Description:transport and golgi organization 2 homolog
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27811  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,021,112 - 20,021,172EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25439 AgrOrtholog
COSMIC TANGO2 COSMIC
Ensembl Genes ENSG00000183597 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000327374 ENTREZGENE
  ENST00000327374.9 UniProtKB/Swiss-Prot
  ENST00000398042 ENTREZGENE
  ENST00000398042.6 UniProtKB/Swiss-Prot
  ENST00000399807.7 UniProtKB/TrEMBL
  ENST00000401833 ENTREZGENE
  ENST00000401833.5 UniProtKB/Swiss-Prot
  ENST00000401886 ENTREZGENE
  ENST00000401886.5 UniProtKB/Swiss-Prot
  ENST00000420290 ENTREZGENE
  ENST00000420290.6 UniProtKB/TrEMBL
  ENST00000430807.5 UniProtKB/TrEMBL
  ENST00000432198.5 UniProtKB/TrEMBL
  ENST00000432883 ENTREZGENE
  ENST00000432883.5 UniProtKB/Swiss-Prot
  ENST00000434168.5 UniProtKB/TrEMBL
  ENST00000434570 ENTREZGENE
  ENST00000434570.6 UniProtKB/Swiss-Prot
  ENST00000444651.5 UniProtKB/TrEMBL
  ENST00000447208 ENTREZGENE
  ENST00000447208.6 UniProtKB/TrEMBL
  ENST00000450019.5 UniProtKB/TrEMBL
  ENST00000450664.5 UniProtKB/TrEMBL
  ENST00000456048 ENTREZGENE
  ENST00000456048.5 UniProtKB/Swiss-Prot
GTEx ENSG00000183597 GTEx
HGNC ID HGNC:25439 ENTREZGENE
Human Proteome Map TANGO2 Human Proteome Map
InterPro TANGO2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:128989 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 128989 ENTREZGENE
OMIM 616830 OMIM
PANTHER PTHR17985 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRANSPORT AND GOLGI ORGANIZATION PROTEIN 2 HOMOLOG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TANGO2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA143485406 PharmGKB
UniProt A0A0A0MSI5 ENTREZGENE, UniProtKB/TrEMBL
  A8K1E7 ENTREZGENE, UniProtKB/TrEMBL
  A8MUE9 ENTREZGENE
  A8MWT1 ENTREZGENE, UniProtKB/TrEMBL
  B7WNV6 ENTREZGENE
  B7Z4A5 ENTREZGENE, UniProtKB/TrEMBL
  B7Z4V5 ENTREZGENE, UniProtKB/TrEMBL
  B7Z583 ENTREZGENE
  B7Z730 ENTREZGENE
  B7Z9Q5 ENTREZGENE, UniProtKB/TrEMBL
  C9J695_HUMAN UniProtKB/TrEMBL
  C9JDT9_HUMAN UniProtKB/TrEMBL
  C9JKN2 ENTREZGENE, UniProtKB/TrEMBL
  D3DX23 ENTREZGENE
  F6S117_HUMAN UniProtKB/TrEMBL
  F8WDT9_HUMAN UniProtKB/TrEMBL
  Q6ICL3 ENTREZGENE
  Q8IW05 ENTREZGENE
  Q8NAL0 ENTREZGENE
  Q8TCS0 ENTREZGENE
  Q96M16 ENTREZGENE
  TNG2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A1QAV0 UniProtKB/TrEMBL
  A8MUE9 UniProtKB/Swiss-Prot
  B7WNV6 UniProtKB/Swiss-Prot
  B7Z583 UniProtKB/Swiss-Prot
  B7Z730 UniProtKB/Swiss-Prot
  D3DX23 UniProtKB/Swiss-Prot
  Q8IW05 UniProtKB/Swiss-Prot
  Q8NAL0 UniProtKB/Swiss-Prot
  Q8TCS0 UniProtKB/Swiss-Prot
  Q96M16 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-07-07 TANGO2  transport and golgi organization 2 homolog    transport and golgi organization 2 homolog (Drosophila)  Symbol and/or name change 5135510 APPROVED
2013-01-02 TANGO2  transport and golgi organization 2 homolog (Drosophila)  C22orf25  chromosome 22 open reading frame 25  Symbol and/or name change 5135510 APPROVED