PI4KA (phosphatidylinositol 4-kinase alpha) - Rat Genome Database

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Gene: PI4KA (phosphatidylinositol 4-kinase alpha) Homo sapiens
Analyze
Symbol: PI4KA
Name: phosphatidylinositol 4-kinase alpha
RGD ID: 736810
HGNC Page HGNC:8983
Description: Enables cadherin binding activity. Involved in modulation by host of viral process and reorganization of cellular membranes to establish viral sites of replication. Located in cytoplasm and plasma membrane. Implicated in hereditary spastic paraplegia 84.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ16556; GIDID2; phosphatidylinositol 4-kinase; phosphatidylinositol 4-kinase 230; phosphatidylinositol 4-kinase III alpha; phosphatidylinositol 4-kinase IIII+/-; phosphatidylinositol 4-kinase, catalytic, alpha; phosphatidylinositol 4-kinase, type III, alpha; PI4-kinase alpha; PI4K-ALPHA; pi4K230; PIK4CA; PMGYCHA; ptdIns-4-kinase alpha; SPG84; testicular secretory protein Li 35
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: PI4KAP1   PI4KAP2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382220,707,691 - 20,858,811 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2220,707,691 - 20,859,417 (-)EnsemblGRCh38hg38GRCh38
GRCh372221,061,979 - 21,213,099 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362219,391,979 - 19,543,070 (-)NCBINCBI36Build 36hg18NCBI36
Build 342219,386,544 - 19,517,555NCBI
Celera224,557,005 - 4,704,409 (-)NCBICelera
Celera225,492,598 - 5,494,284 (+)NCBICelera
Cytogenetic Map22q11.21NCBI
HuRef224,329,838 - 4,481,241 (-)NCBIHuRef
CHM1_12221,062,151 - 21,213,286 (-)NCBICHM1_1
T2T-CHM13v2.02221,116,400 - 21,267,532 (-)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

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal distention  (IAGP)
Abnormal bleeding  (IAGP)
Abnormal ductus choledochus morphology  (IAGP)
Abnormality of masticatory muscle  (IAGP)
Abnormality of neuronal migration  (IAGP)
Absent eyebrow  (IAGP)
Absent uvula  (IAGP)
Alopecia of scalp  (IAGP)
Ankle clonus  (IAGP)
Ankle flexion contracture  (IAGP)
Antenatal onset  (IAGP)
Apnea  (IAGP)
Arachnoid cyst  (IAGP)
Arthrogryposis multiplex congenita  (IAGP)
Aspiration  (IAGP)
Ataxia  (IAGP)
Autism  (IAGP)
Autoimmune hemolytic anemia  (IAGP)
Autoimmunity  (IAGP)
Autosomal recessive inheritance  (IAGP)
Babinski sign  (IAGP)
Bilateral perisylvian polymicrogyria  (IAGP)
Bilateral talipes equinovarus  (IAGP)
Bloody diarrhea  (IAGP)
Bronchiectasis  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebellar dysplasia  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Cervical spinal cord atrophy  (IAGP)
Childhood onset  (IAGP)
Choanal atresia  (IAGP)
CNS hypomyelination  (IAGP)
Cognitive impairment  (IAGP)
Congenital pulmonary airway malformation  (IAGP)
Crohn's disease  (IAGP)
Deep venous thrombosis  (IAGP)
Delayed fine motor development  (IAGP)
Delayed gross motor development  (IAGP)
Delayed speech and language development  (IAGP)
Dilatation of the renal pelvis  (IAGP)
Distal arthrogryposis  (IAGP)
Dolichocephaly  (IAGP)
Drooling  (IAGP)
Dysarthria  (IAGP)
Dysmetria  (IAGP)
Dysphagia  (IAGP)
Dystonia  (IAGP)
Ectopic calcification  (IAGP)
Ectopic posterior pituitary  (IAGP)
EEG with central focal spikes  (IAGP)
EEG with frontal focal spikes  (IAGP)
EEG with parietal focal spikes  (IAGP)
EEG with polyspike wave complexes  (IAGP)
Esodeviation  (IAGP)
Esophageal atresia  (IAGP)
Facial diplegia  (IAGP)
Feeding difficulties  (IAGP)
Femoral retroversion  (IAGP)
Fetal onset  (IAGP)
Fetal pyelectasis  (IAGP)
Flexion contracture  (IAGP)
Focal sensory seizure  (IAGP)
Focal-onset seizure  (IAGP)
Frequent falls  (IAGP)
Gait disturbance  (IAGP)
Gastroesophageal reflux  (IAGP)
Gastrointestinal atresia  (IAGP)
Global developmental delay  (IAGP)
Hashimoto thyroiditis  (IAGP)
Head titubation  (IAGP)
Hearing impairment  (IAGP)
Hepatitis  (IAGP)
Hip contracture  (IAGP)
Hoffmann sign  (IAGP)
Hyperintensity of cerebral white matter on MRI  (IAGP)
Hyperreflexia  (IAGP)
Hypertonia  (IAGP)
Hypoplasia of the pons  (IAGP)
Hypoplasia of the thymus  (IAGP)
Immunodeficiency  (IAGP)
Impaired vibratory sensation  (IAGP)
Infantile muscular hypotonia  (IAGP)
Infantile onset  (IAGP)
Infantile spasms  (IAGP)
Inflammation of the large intestine  (IAGP)
Intellectual disability  (IAGP)
Intention tremor  (IAGP)
Interstitial emphysema  (IAGP)
Intestinal atresia  (IAGP)
Intestinal malrotation  (IAGP)
Intrauterine growth retardation  (IAGP)
Jejunoileal ulceration  (IAGP)
Juvenile onset  (IAGP)
Knee flexion contracture  (IAGP)
Kyphosis  (IAGP)
Language impairment  (IAGP)
Leg muscle stiffness  (IAGP)
Leukodystrophy  (IAGP)
Limb hypertonia  (IAGP)
Lower limb muscle weakness  (IAGP)
Lower limb spasticity  (IAGP)
Lymphopenia  (IAGP)
Megacolon  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Nail dystrophy  (IAGP)
Nystagmus  (IAGP)
Omphalocele  (IAGP)
Optic atrophy  (IAGP)
Oromotor apraxia  (IAGP)
Overlapping fingers  (IAGP)
Paraparesis  (IAGP)
Pectus excavatum  (IAGP)
Perisylvian polymicrogyria  (IAGP)
Perisylvian predominant thick cortex pachygyria  (IAGP)
Peritoneal abscess  (IAGP)
Pes cavus  (IAGP)
Polyhydramnios  (IAGP)
Polymicrogyria  (IAGP)
Prolonged QT interval  (IAGP)
Protruding tongue  (IAGP)
Pseudobulbar paralysis  (IAGP)
Psoriasiform dermatitis  (IAGP)
Pulmonary hypoplasia  (IAGP)
Rectal abscess  (IAGP)
Rectovaginal fistula  (IAGP)
Recurrent abscess formation  (IAGP)
Reduced visual acuity  (IAGP)
Schizophrenia  (IAGP)
Seizure  (IAGP)
Severe combined immunodeficiency  (IAGP)
Sparse hair  (IAGP)
Spastic paraplegia  (IAGP)
Spastic tetraplegia  (IAGP)
Spasticity  (IAGP)
Specific learning disability  (IAGP)
Talipes equinovarus  (IAGP)
Thickened skin  (IAGP)
Thin corpus callosum  (IAGP)
Tip-toe gait  (IAGP)
Type I diabetes mellitus  (IAGP)
Unilateral wrist flexion contracture  (IAGP)
Urinary urgency  (IAGP)
Ventricular septal defect  (IAGP)
Ventriculomegaly  (IAGP)
Weakness of facial musculature  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
3. Cloning, expression, and localization of 230-kDa phosphatidylinositol 4-kinase. Nakagawa T, etal., J Biol Chem 1996 May 17;271(20):12088-94.
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1318025   PMID:7761838   PMID:7961848   PMID:8246987   PMID:8889548   PMID:9360995   PMID:9654085   PMID:10101268   PMID:11907035   PMID:12477932   PMID:12497619   PMID:12594831  
PMID:14676841   PMID:14702039   PMID:15489334   PMID:15607035   PMID:15634669   PMID:16169070   PMID:16344560   PMID:16606619   PMID:17131383   PMID:17215244   PMID:17242350   PMID:17555516  
PMID:17893707   PMID:18077555   PMID:18521859   PMID:18585705   PMID:18615484   PMID:18646052   PMID:19304308   PMID:19376974   PMID:19605471   PMID:19608626   PMID:19738201   PMID:19913121  
PMID:19946888   PMID:20052689   PMID:20458337   PMID:20530568   PMID:20628086   PMID:21238945   PMID:21297162   PMID:21330372   PMID:21423176   PMID:21601653   PMID:21697487   PMID:21873635  
PMID:21900206   PMID:22022594   PMID:22535966   PMID:22623428   PMID:22896614   PMID:22939629   PMID:23229899   PMID:23675303   PMID:23935497   PMID:24077433   PMID:24393405   PMID:24415756  
PMID:24671493   PMID:24711643   PMID:24920820   PMID:25168678   PMID:25209194   PMID:25281560   PMID:25327288   PMID:25468996   PMID:25608530   PMID:25609649   PMID:25855803   PMID:25886792  
PMID:25921289   PMID:26186194   PMID:26496610   PMID:26514267   PMID:26571211   PMID:26949251   PMID:26972000   PMID:27093462   PMID:27499296   PMID:27870828   PMID:27880917   PMID:28514442  
PMID:28524877   PMID:28566381   PMID:29117863   PMID:29229838   PMID:29386109   PMID:29467282   PMID:29507755   PMID:29509190   PMID:29676528   PMID:29999490   PMID:30154076   PMID:30442766  
PMID:30639242   PMID:30945288   PMID:30948266   PMID:31067491   PMID:31073040   PMID:31091453   PMID:31527615   PMID:31586073   PMID:31616248   PMID:31620119   PMID:31751430   PMID:31871319  
PMID:32235678   PMID:32707033   PMID:32780723   PMID:32877691   PMID:33005030   PMID:33766124   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34315543   PMID:34373451   PMID:34415310  
PMID:34415322   PMID:34432599   PMID:34504076   PMID:34591612   PMID:34732716   PMID:35271311   PMID:35384245   PMID:35563538   PMID:35748872   PMID:35844135   PMID:35906200   PMID:35944360  
PMID:35951779   PMID:36114006   PMID:36215168   PMID:36341355   PMID:36376293   PMID:36538041   PMID:36688959   PMID:36724073   PMID:36931259   PMID:36976175   PMID:37167062   PMID:37390900  
PMID:37453227   PMID:37689310   PMID:37813099   PMID:37979461   PMID:37996444   PMID:38270169   PMID:38580884  


Genomics

Comparative Map Data
PI4KA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382220,707,691 - 20,858,811 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2220,707,691 - 20,859,417 (-)EnsemblGRCh38hg38GRCh38
GRCh372221,061,979 - 21,213,099 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362219,391,979 - 19,543,070 (-)NCBINCBI36Build 36hg18NCBI36
Build 342219,386,544 - 19,517,555NCBI
Celera224,557,005 - 4,704,409 (-)NCBICelera
Celera225,492,598 - 5,494,284 (+)NCBICelera
Cytogenetic Map22q11.21NCBI
HuRef224,329,838 - 4,481,241 (-)NCBIHuRef
CHM1_12221,062,151 - 21,213,286 (-)NCBICHM1_1
T2T-CHM13v2.02221,116,400 - 21,267,532 (-)NCBIT2T-CHM13v2.0
Pi4ka
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391617,098,215 - 17,224,178 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1617,098,215 - 17,224,178 (-)EnsemblGRCm39 Ensembl
GRCm381617,280,351 - 17,406,314 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1617,280,351 - 17,406,314 (-)EnsemblGRCm38mm10GRCm38
MGSCv371617,280,444 - 17,406,407 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361617,193,915 - 17,319,877 (-)NCBIMGSCv36mm8
Celera1617,853,225 - 17,979,271 (-)NCBICelera
Cytogenetic Map16A3NCBI
cM Map1610.71NCBI
Pi4ka
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81197,113,390 - 97,234,374 (+)NCBIGRCr8
mRatBN7.21183,609,148 - 83,726,876 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1183,609,069 - 83,724,080 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1192,336,920 - 92,454,084 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01184,998,070 - 85,115,233 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01184,051,678 - 84,168,839 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01187,858,323 - 87,975,549 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1187,858,453 - 87,973,422 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01190,914,592 - 91,028,242 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41185,610,281 - 85,726,603 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11185,650,877 - 85,767,200 (+)NCBI
Celera1182,373,025 - 82,486,238 (+)NCBICelera
Cytogenetic Map11q23NCBI
Pi4ka
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544219,446,955 - 19,598,725 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544219,446,955 - 19,594,790 (+)NCBIChiLan1.0ChiLan1.0
PI4KA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22330,414,241 - 30,565,263 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12232,963,144 - 33,114,773 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0222,931,523 - 3,082,475 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PI4KA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12630,630,693 - 30,749,158 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2630,630,261 - 30,749,126 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2630,589,065 - 30,707,530 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02632,039,270 - 32,155,774 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2632,038,805 - 32,155,769 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12630,085,016 - 30,204,201 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02629,709,699 - 29,828,234 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02630,798,988 - 30,918,013 (+)NCBIUU_Cfam_GSD_1.0
Pi4ka
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118140,376,969 - 140,513,432 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366192,240,266 - 2,377,093 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366192,240,641 - 2,377,088 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PI4KA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1450,390,410 - 50,491,944 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11450,390,416 - 50,491,983 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21453,838,856 - 53,940,687 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PI4KA
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1194,648,184 - 4,797,573 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl194,648,183 - 4,797,396 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660852,209,589 - 2,351,629 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pi4ka
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624945837,864 - 1,014,684 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624945837,877 - 1,016,041 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PI4KA
348 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
Single allele deletion Epilepsy [RCV001293366] Chr22:18889490..21463730 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18915347-21463730)x1 copy number loss VATER association [RCV000520380] Chr22:18915347..21463730 [GRCh37]
Chr22:22q11.21
likely pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 copy number gain See cases [RCV000050271] Chr22:18339130..21207225 [GRCh38]
Chr22:18919942..21561514 [GRCh37]
Chr22:17299942..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x1 copy number loss See cases [RCV000050273] Chr22:18339130..21207225 [GRCh38]
Chr22:18919942..21561514 [GRCh37]
Chr22:17299942..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:20671366-22046408)x3 copy number gain See cases [RCV000050932] Chr22:20671366..22046408 [GRCh38]
Chr22:21025654..22400806 [GRCh37]
Chr22:19355654..20730806 [NCBI36]
Chr22:22q11.21-11.22
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 copy number gain See cases [RCV000050991] Chr22:18339130..21086225 [GRCh38]
Chr22:18919942..21440514 [GRCh37]
Chr22:17299942..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 copy number loss See cases [RCV000050992] Chr22:18339130..21086225 [GRCh38]
Chr22:18919942..21440514 [GRCh37]
Chr22:17299942..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18389245-21207225)x1 copy number loss See cases [RCV000050893] Chr22:18389245..21207225 [GRCh38]
Chr22:20659547..21561514 [GRCh37]
Chr22:18989547..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3 copy number gain See cases [RCV000050768] Chr22:18178957..31821193 [GRCh38]
Chr22:18661724..32217179 [GRCh37]
Chr22:17041724..30547179 [NCBI36]
Chr22:22q11.21-12.3
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss See cases [RCV000050550] Chr22:18339130..21151128 [GRCh38]
Chr22:18706001..21505417 [GRCh37]
Chr22:17086001..19835417 [NCBI36]
Chr22:22q11.21
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:20394686-21145682)x3 copy number gain See cases [RCV000050725] Chr22:20394686..21145682 [GRCh38]
Chr22:20748976..21499971 [GRCh37]
Chr22:19078976..19829971 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-21151128)x3 copy number gain See cases [RCV000050614] Chr22:16916608..21151128 [GRCh38]
Chr22:17397498..21505417 [GRCh37]
Chr22:15777498..19835417 [NCBI36]
Chr22:22q11.1-11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3 copy number gain See cases [RCV000050628] Chr22:18339130..21454720 [GRCh38]
Chr22:18919942..21809009 [GRCh37]
Chr22:17299942..20139009 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3 copy number gain See cases [RCV000050387] Chr22:18339130..21151128 [GRCh38]
Chr22:18919942..21505417 [GRCh37]
Chr22:17299942..19835417 [NCBI36]
Chr22:22q11.21
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss See cases [RCV000050388] Chr22:18339130..21151128 [GRCh38]
Chr22:18919942..21505417 [GRCh37]
Chr22:17299942..19835417 [NCBI36]
Chr22:22q11.21
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050630]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050630]|See cases [RCV000050630] Chr22:18339130..21454720 [GRCh38]
Chr22:18919942..21809009 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21207225)x1 copy number loss See cases [RCV000050360] Chr22:18178957..21207225 [GRCh38]
Chr22:18661724..21561514 [GRCh37]
Chr22:17041724..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18145052-21086366)x1 copy number loss See cases [RCV000051271] Chr22:18145052..21086366 [GRCh38]
Chr22:18627819..21440655 [GRCh37]
Chr22:17007819..19770655 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18145252-21151128)x1 copy number loss See cases [RCV000051272] Chr22:18145252..21151128 [GRCh38]
Chr22:18628019..21505417 [GRCh37]
Chr22:17008019..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18167908-21101267)x3 copy number gain See cases [RCV000051273] Chr22:18167908..21101267 [GRCh38]
Chr22:18650675..21455556 [GRCh37]
Chr22:17030675..19785556 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18167908-21101267)x1 copy number loss See cases [RCV000051275] Chr22:18167908..21101267 [GRCh38]
Chr22:18650675..21455556 [GRCh37]
Chr22:17030675..19785556 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18177786-21101267)x3 copy number gain See cases [RCV000051276] Chr22:18177786..21101267 [GRCh38]
Chr22:18660553..21455556 [GRCh37]
Chr22:17040553..19785556 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18177786-21101267)x1 copy number loss See cases [RCV000051278] Chr22:18177786..21101267 [GRCh38]
Chr22:18660553..21455556 [GRCh37]
Chr22:17040553..19785556 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21086225)x1 copy number loss See cases [RCV000051283] Chr22:18178957..21086225 [GRCh38]
Chr22:18661724..21440514 [GRCh37]
Chr22:17041724..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18188862-21182552)x1 copy number loss See cases [RCV000051286] Chr22:18188862..21182552 [GRCh38]
Chr22:18671629..21536841 [GRCh37]
Chr22:17051629..19866841 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151269)x1 copy number loss See cases [RCV000051295] Chr22:18339130..21151269 [GRCh38]
Chr22:18705801..21505558 [GRCh37]
Chr22:17085801..19835558 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086366)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051296]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051296]|See cases [RCV000051296] Chr22:18339130..21086366 [GRCh38]
Chr22:18705801..21440655 [GRCh37]
Chr22:17085801..19770655 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x1 copy number loss See cases [RCV000051298] Chr22:18339130..21454720 [GRCh38]
Chr22:18706001..21809009 [GRCh37]
Chr22:17086001..20139009 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21107522)x1 copy number loss See cases [RCV000051301] Chr22:18339130..21107522 [GRCh38]
Chr22:18890271..21461811 [GRCh37]
Chr22:17270271..19791811 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21040441)x1 copy number loss See cases [RCV000051321] Chr22:18339130..21040441 [GRCh38]
Chr22:18890271..21394730 [GRCh37]
Chr22:17270271..19724730 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 copy number gain See cases [RCV000051323] Chr22:18339130..21086225 [GRCh38]
Chr22:18896972..21440514 [GRCh37]
Chr22:17276972..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 copy number loss See cases [RCV000051324] Chr22:18339130..21086225 [GRCh38]
Chr22:18896972..21440514 [GRCh37]
Chr22:17276972..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086366)x1 copy number loss See cases [RCV000051325] Chr22:18339130..21086366 [GRCh38]
Chr22:18919742..21440655 [GRCh37]
Chr22:17299742..19770655 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151269)x1 copy number loss See cases [RCV000051328] Chr22:18339130..21151269 [GRCh38]
Chr22:18919742..21505558 [GRCh37]
Chr22:17299742..19835558 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:20726972-21151128)x3 copy number gain See cases [RCV000051094] Chr22:20726972..21151128 [GRCh38]
Chr22:21081260..21505417 [GRCh37]
Chr22:19411260..19835417 [NCBI36]
Chr22:22q11.21
pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:20726972-21151128)x1 copy number loss See cases [RCV000051096] Chr22:20726972..21151128 [GRCh38]
Chr22:21081260..21505417 [GRCh37]
Chr22:19411260..19835417 [NCBI36]
Chr22:22q11.21
pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051023]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051023]|See cases [RCV000051023] Chr22:18339130..21086225 [GRCh38]
Chr22:18706001..21440514 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 copy number loss See cases [RCV000051024] Chr22:18339130..21086225 [GRCh38]
Chr22:18706001..21440514 [GRCh37]
Chr22:17086001..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21151128)x3 copy number gain See cases [RCV000051170] Chr22:18178957..21151128 [GRCh38]
Chr22:18661724..21505417 [GRCh37]
Chr22:17041724..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21151128)x1 copy number loss See cases [RCV000051171] Chr22:18178957..21151128 [GRCh38]
Chr22:18661724..21505417 [GRCh37]
Chr22:17041724..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:20400132-21151128)x3 copy number gain See cases [RCV000051176] Chr22:20400132..21151128 [GRCh38]
Chr22:20754422..21505417 [GRCh37]
Chr22:19084422..19835417 [NCBI36]
Chr22:22q11.21
pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:20400132-21151128)x1 copy number loss See cases [RCV000051177] Chr22:20400132..21151128 [GRCh38]
Chr22:20754422..21505417 [GRCh37]
Chr22:19084422..19835417 [NCBI36]
Chr22:22q11.21
pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18169870-21559889)x3 copy number gain See cases [RCV000051918] Chr22:18169870..21559889 [GRCh38]
Chr22:18652637..21914178 [GRCh37]
Chr22:17032637..20244178 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 copy number gain See cases [RCV000051944] Chr22:18339130..21207225 [GRCh38]
Chr22:20402633..21561514 [GRCh37]
Chr22:18782633..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:20604697-21025669)x3 copy number gain See cases [RCV000051960] Chr22:20604697..21025669 [GRCh38]
Chr22:20958984..21379958 [GRCh37]
Chr22:19288984..19709958 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:20668552-22358488)x3 copy number gain See cases [RCV000051961] Chr22:20668552..22358488 [GRCh38]
Chr22:21022840..22712836 [GRCh37]
Chr22:19352840..21042836 [NCBI36]
Chr22:22q11.21-11.22
pathogenic
GRCh38/hg38 22q11.21(chr22:20690750-21101267)x3 copy number gain See cases [RCV000051962] Chr22:20690750..21101267 [GRCh38]
Chr22:21045038..21455556 [GRCh37]
Chr22:19375038..19785556 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:20726972-21207225)x3 copy number gain See cases [RCV000051963] Chr22:20726972..21207225 [GRCh38]
Chr22:21081260..21561514 [GRCh37]
Chr22:19411260..19891514 [NCBI36]
Chr22:22q11.21
pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:20732418-21091671)x3 copy number gain See cases [RCV000051964] Chr22:20732418..21091671 [GRCh38]
Chr22:21086706..21445960 [GRCh37]
Chr22:19416706..19775960 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21056995)x3 copy number gain See cases [RCV000051919] Chr22:18339130..21056995 [GRCh38]
Chr22:18704554..21411284 [GRCh37]
Chr22:17084554..19741284 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207381)x3 copy number gain See cases [RCV000051920] Chr22:18339130..21207381 [GRCh38]
Chr22:18705801..21561670 [GRCh37]
Chr22:17085801..19891670 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3 copy number gain See cases [RCV000051937] Chr22:18339130..21151128 [GRCh38]
Chr22:18890271..21505417 [GRCh37]
Chr22:17270271..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 copy number gain See cases [RCV000051938] Chr22:18339130..21207225 [GRCh38]
Chr22:18890271..21561514 [GRCh37]
Chr22:17270271..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21444466)x3 copy number gain See cases [RCV000051939] Chr22:18339130..21444466 [GRCh38]
Chr22:18909038..21798755 [GRCh37]
Chr22:17289038..20128755 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 copy number gain See cases [RCV000051940] Chr22:18339130..21086225 [GRCh38]
Chr22:18909038..21440514 [GRCh37]
Chr22:17289038..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(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 22q11.1-11.23(chr22:16916608-24358936)x3 copy number gain See cases [RCV000053104] Chr22:16916608..24358936 [GRCh38]
Chr22:17397498..24754904 [GRCh37]
Chr22:15777498..23084904 [NCBI36]
Chr22:22q11.1-11.23
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21107522)x1 copy number loss See cases [RCV000053047] Chr22:18339130..21107522 [GRCh38]
Chr22:19035017..21461811 [GRCh37]
Chr22:17415017..19791811 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053048]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053048]|See cases [RCV000053048] Chr22:18339130..21151128 [GRCh38]
Chr22:19358153..21505417 [GRCh37]
Chr22:17738153..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:20354600-21053401)x1 copy number loss See cases [RCV000053050] Chr22:20354600..21053401 [GRCh38]
Chr22:20708890..21407690 [GRCh37]
Chr22:19038890..19737690 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:20363880-21073647)x1 copy number loss See cases [RCV000053053] Chr22:20363880..21073647 [GRCh38]
Chr22:20718170..21427936 [GRCh37]
Chr22:19048170..19757936 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:20379137-21151128)x1 copy number loss See cases [RCV000053055] Chr22:20379137..21151128 [GRCh38]
Chr22:20733427..21505417 [GRCh37]
Chr22:19063427..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:20711594-21101267)x1 copy number loss See cases [RCV000053058] Chr22:20711594..21101267 [GRCh38]
Chr22:21065882..21455556 [GRCh37]
Chr22:19395882..19785556 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:20726772-23135971)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053061]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053061]|See cases [RCV000053061] Chr22:20726772..23135971 [GRCh38]
Chr22:21081060..23478158 [GRCh37]
Chr22:19411060..21808158 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x1 copy number loss See cases [RCV000053027] Chr22:18339130..21101267 [GRCh38]
Chr22:18962313..21455556 [GRCh37]
Chr22:17342313..19785556 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x1 copy number loss See cases [RCV000053029] Chr22:18339130..21101267 [GRCh38]
Chr22:18999803..21455556 [GRCh37]
Chr22:17379803..19785556 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss See cases [RCV000053032] Chr22:18339130..21151128 [GRCh38]
Chr22:19029602..21505417 [GRCh37]
Chr22:17409602..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151269)x1 copy number loss See cases [RCV000053006] Chr22:18339130..21151269 [GRCh38]
Chr22:18919942..21505558 [GRCh37]
Chr22:17299942..19835558 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x3 copy number gain See cases [RCV000053012] Chr22:18339130..21101267 [GRCh38]
Chr22:18938161..21455556 [GRCh37]
Chr22:17318161..19785556 [NCBI36]
Chr22:22q11.21
pathogenic
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
GRCh37/hg19 22q11.21(chr22:18886915-21811991)x1 copy number loss See cases [RCV000663399] Chr22:18886915..21811991 [GRCh37]
Chr22:22q11.21
pathogenic
NM_000185.4(SERPIND1):c.1385C>T (p.Pro462Leu) single nucleotide variant Heparin cofactor II deficiency [RCV000016095] Chr22:20786951 [GRCh38]
Chr22:21141239 [GRCh37]
Chr22:22q11.21
pathogenic
NM_000185.4(SERPIND1):c.321dup (p.Val108fs) duplication Heparin cofactor II deficiency [RCV000016093] Chr22:20779632..20779633 [GRCh38]
Chr22:21133920..21133921 [GRCh37]
Chr22:22q11.21
pathogenic
NM_000185.4(SERPIND1):c.1429_1430del (p.Phe477fs) deletion Heparin cofactor II deficiency [RCV000016094] Chr22:20786993..20786994 [GRCh38]
Chr22:21141281..21141282 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18389245-21086225)x3 copy number gain See cases [RCV000133642] Chr22:18389245..21086225 [GRCh38]
Chr22:20659547..21440514 [GRCh37]
Chr22:18989547..19770514 [NCBI36]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.2575-1G>A single nucleotide variant Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV002250230] Chr22:20764951 [GRCh38]
Chr22:21119239 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18389245-21086225)x1 copy number loss See cases [RCV000133643] Chr22:18389245..21086225 [GRCh38]
Chr22:20659547..21440514 [GRCh37]
Chr22:18989547..19770514 [NCBI36]
Chr22:22q11.21
uncertain significance
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
NM_058004.4(PI4KA):c.5821C>T (p.Arg1941Ter) single nucleotide variant Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV004598385] Chr22:20711443 [GRCh38]
Chr22:21065731 [GRCh37]
Chr22:22q11.21
pathogenic|likely pathogenic
NM_058004.4(PI4KA):c.2386C>T (p.Arg796Ter) single nucleotide variant Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV000190465] Chr22:20765636 [GRCh38]
Chr22:21119924 [GRCh37]
Chr22:22q11.21
pathogenic
NM_058004.4(PI4KA):c.5560G>A (p.Asp1854Asn) single nucleotide variant Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV000190466]|not provided [RCV001311593] Chr22:20713292 [GRCh38]
Chr22:21067580 [GRCh37]
Chr22:22q11.21
pathogenic|likely pathogenic
NM_058004.4(PI4KA):c.4156T>G (p.Phe1386Val) single nucleotide variant Spastic paraplegia 84, autosomal recessive [RCV004799710] Chr22:20733740 [GRCh38]
Chr22:21088028 [GRCh37]
Chr22:22q11.21
likely pathogenic
Single allele deletion Intellectual disability [RCV001293370] Chr22:18886915..21463730 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 copy number gain See cases [RCV000051023] Chr22:18339130..21086225 [GRCh38]
Chr22:18706001..21440514 [GRCh37]
Chr22:17086001..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
NM_058004.4(PI4KA):c.2277+1G>A single nucleotide variant Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001292923] Chr22:20796145 [GRCh38]
Chr22:21150433 [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(chr22:20400132-21086225)x1 copy number loss See cases [RCV000133629] Chr22:20400132..21086225 [GRCh38]
Chr22:20754422..21440514 [GRCh37]
Chr22:19084422..19770514 [NCBI36]
Chr22:22q11.21
conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21107463)x3 copy number gain See cases [RCV000134519] Chr22:18339130..21107463 [GRCh38]
Chr22:18894835..21461752 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21107463)x1 copy number loss See cases [RCV000134520] Chr22:18339130..21107463 [GRCh38]
Chr22:18894835..21461752 [GRCh37]
Chr22:17274835..19791752 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178932-21151156)x3 copy number gain See cases [RCV000134128] Chr22:18178932..21151156 [GRCh38]
Chr22:18661699..21505445 [GRCh37]
Chr22:17041699..19835445 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178932-21151156)x1 copy number loss See cases [RCV000134130] Chr22:18178932..21151156 [GRCh38]
Chr22:18661699..21505445 [GRCh37]
Chr22:17041699..19835445 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086226)x3 copy number gain See cases [RCV000134084] Chr22:18339130..21086226 [GRCh38]
Chr22:18894820..21440515 [GRCh37]
Chr22:17274820..19770515 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086226)x1 copy number loss See cases [RCV000134085] Chr22:18339130..21086226 [GRCh38]
Chr22:18894820..21440515 [GRCh37]
Chr22:17274820..19770515 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18168847-21086166)x3 copy number gain See cases [RCV000135308] Chr22:18168847..21086166 [GRCh38]
Chr22:18651614..21440455 [GRCh37]
Chr22:17031614..19770455 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:20671366-22088366)x3 copy number gain See cases [RCV000134888] Chr22:20671366..22088366 [GRCh38]
Chr22:21025654..22442778 [GRCh37]
Chr22:19355654..20772778 [NCBI36]
Chr22:22q11.21-11.22
uncertain significance
GRCh38/hg38 22q11.21(chr22:18145380-21086226)x1 copy number loss See cases [RCV000134837] Chr22:18145380..21086226 [GRCh38]
Chr22:18628147..21440515 [GRCh37]
Chr22:17008147..19770515 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21086225)x3 copy number gain See cases [RCV000135519] Chr22:18178957..21086225 [GRCh38]
Chr22:18661724..21440514 [GRCh37]
Chr22:17041724..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:20671366-21151128)x4 copy number gain See cases [RCV000135614] Chr22:20671366..21151128 [GRCh38]
Chr22:21025654..21505417 [GRCh37]
Chr22:19355654..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 copy number gain See cases [RCV000135456] Chr22:18339130..21207225 [GRCh38]
Chr22:19058829..21561514 [GRCh37]
Chr22:17438829..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21307146)x3 copy number gain See cases [RCV000136518] Chr22:18178957..21307146 [GRCh38]
Chr22:18661724..21661435 [GRCh37]
Chr22:17041724..19991435 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss See cases [RCV000136527] Chr22:18339130..21151128 [GRCh38]
Chr22:20311704..21505417 [GRCh37]
Chr22:18691704..19835417 [NCBI36]
Chr22:22q11.21
uncertain significance
GRCh38/hg38 22q11.21(chr22:20354600-21207225)x3 copy number gain See cases [RCV000136542] Chr22:20354600..21207225 [GRCh38]
Chr22:20708890..21561514 [GRCh37]
Chr22:19038890..19891514 [NCBI36]
Chr22:22q11.21
uncertain significance
GRCh38/hg38 22q11.21(chr22:20400117-21086226)x1 copy number loss See cases [RCV000136039] Chr22:20400117..21086226 [GRCh38]
Chr22:20754407..21440515 [GRCh37]
Chr22:19084407..19770515 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:20726972-24197852)x1 copy number loss See cases [RCV000136889] Chr22:20726972..24197852 [GRCh38]
Chr22:21081260..24593820 [GRCh37]
Chr22:19411260..22923820 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21028664)x1 copy number loss See cases [RCV000136808] Chr22:18339130..21028664 [GRCh38]
Chr22:18896972..21382953 [GRCh37]
Chr22:17276972..19712953 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 copy number loss See cases [RCV000136677] Chr22:18339130..21086225 [GRCh38]
Chr22:19058829..21440514 [GRCh37]
Chr22:17438829..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21441926)x1 copy number loss See cases [RCV000136758] Chr22:18339130..21441926 [GRCh38]
Chr22:18891526..21796215 [GRCh37]
Chr22:17271526..20126215 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21107522)x1 copy number loss See cases [RCV000137504] Chr22:18178957..21107522 [GRCh38]
Chr22:18661724..21461811 [GRCh37]
Chr22:17041724..19791811 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3 copy number gain See cases [RCV000138187] Chr22:18339130..21454720 [GRCh38]
Chr22:18894835..21809009 [GRCh37]
Chr22:17274835..20139009 [NCBI36]
Chr22:22q11.21
pathogenic|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18145252-21109830)x1 copy number loss See cases [RCV000137985] Chr22:18145252..21109830 [GRCh38]
Chr22:18628019..21464119 [GRCh37]
Chr22:17008019..19794119 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21107522)x1 copy number loss See cases [RCV000138169] Chr22:18339130..21107522 [GRCh38]
Chr22:18894835..21461811 [GRCh37]
Chr22:17274835..19791811 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18389245-21454720)x3 copy number gain See cases [RCV000137927] Chr22:18389245..21454720 [GRCh38]
Chr22:20659547..21809009 [GRCh37]
Chr22:18989547..20139009 [NCBI36]
Chr22:22q11.21
uncertain significance
GRCh38/hg38 22q11.21(chr22:18339130-21109830)x1 copy number loss See cases [RCV000137960] Chr22:18339130..21109830 [GRCh38]
Chr22:18894835..21464119 [GRCh37]
Chr22:17274835..19794119 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:20378147-21151128)x1 copy number loss See cases [RCV000138684] Chr22:20378147..21151128 [GRCh38]
Chr22:20732437..21505417 [GRCh37]
Chr22:19062437..19835417 [NCBI36]
Chr22:22q11.21
uncertain significance
GRCh38/hg38 22q11.21(chr22:18178957-21109830)x1 copy number loss See cases [RCV000138671] Chr22:18178957..21109830 [GRCh38]
Chr22:18661724..21464119 [GRCh37]
Chr22:17041724..19794119 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:20812202-21053392)x3 copy number gain See cases [RCV000138791] Chr22:20812202..21053392 [GRCh38]
Chr22:21166490..21407681 [GRCh37]
Chr22:19496490..19737681 [NCBI36]
Chr22:22q11.21
uncertain significance
GRCh38/hg38 22q11.21(chr22:18339130-21109830)x1 copy number loss See cases [RCV000138354] Chr22:18339130..21109830 [GRCh38]
Chr22:18706001..21464119 [GRCh37]
Chr22:17086001..19794119 [NCBI36]
Chr22:22q11.21
pathogenic|conflicting data from submitters
GRCh38/hg38 22q11.21-11.22(chr22:18178932-22562620)x3 copy number gain See cases [RCV000139316] Chr22:18178932..22562620 [GRCh38]
Chr22:18661699..22905025 [GRCh37]
Chr22:17041699..21235025 [NCBI36]
Chr22:22q11.21-11.22
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151156)x3 copy number gain See cases [RCV000139000] Chr22:18339130..21151156 [GRCh38]
Chr22:18894820..21505445 [GRCh37]
Chr22:17274820..19835445 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:20375098-21111370)x3 copy number gain See cases [RCV000140073] Chr22:20375098..21111370 [GRCh38]
Chr22:20729388..21465659 [GRCh37]
Chr22:19059388..19795659 [NCBI36]
Chr22:22q11.21
uncertain significance
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x3 copy number gain See cases [RCV000139955] Chr22:18339130..21111373 [GRCh38]
Chr22:18916828..21465662 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21107463)x3 copy number gain See cases [RCV000141416] Chr22:18178957..21107463 [GRCh38]
Chr22:18661724..21461752 [GRCh37]
Chr22:17041724..19791752 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21109830)x1 copy number loss See cases [RCV000140853] Chr22:18339130..21109830 [GRCh38]
Chr22:19035323..21464119 [GRCh37]
Chr22:17415323..19794119 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:20400132-21107463)x1 copy number loss See cases [RCV000140771] Chr22:20400132..21107463 [GRCh38]
Chr22:20754422..21461752 [GRCh37]
Chr22:19084422..19791752 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101210)x1 copy number loss See cases [RCV000140773] Chr22:18339130..21101210 [GRCh38]
Chr22:18999803..21455499 [GRCh37]
Chr22:17379803..19785499 [NCBI36]
Chr22:22q11.21
pathogenic
NM_058004.4(PI4KA):c.5137G>C (p.Asp1713His) single nucleotide variant PI4KA-related disorder [RCV004530215]|not provided [RCV003153477]|not specified [RCV000203065] Chr22:20718802 [GRCh38]
Chr22:21073090 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh38/hg38 22q11.21(chr22:20540868-21020223)x3 copy number gain See cases [RCV000141594] Chr22:20540868..21020223 [GRCh38]
Chr22:20895155..21374512 [GRCh37]
Chr22:19225155..19704512 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1 copy number loss See cases [RCV000141704] Chr22:18339130..21111370 [GRCh38]
Chr22:18916828..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18157962-21111370)x3 copy number gain See cases [RCV000141737] Chr22:18157962..21111370 [GRCh38]
Chr22:18640729..21465659 [GRCh37]
Chr22:17020729..19795659 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20980781)x1 copy number loss See cases [RCV000141782] Chr22:18339130..20980781 [GRCh38]
Chr22:20277314..21335070 [GRCh37]
Chr22:18657314..19665070 [NCBI36]
Chr22:22q11.21
uncertain significance
GRCh38/hg38 22q11.21(chr22:18339130-21450597)x1 copy number loss See cases [RCV000141677] Chr22:18339130..21450597 [GRCh38]
Chr22:18916842..21804886 [GRCh37]
Chr22:17296842..20134886 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18166089-21111373)x1 copy number loss See cases [RCV000142253] Chr22:18166089..21111373 [GRCh38]
Chr22:18648856..21465662 [GRCh37]
Chr22:17028856..19795662 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1 copy number loss See cases [RCV000142073] Chr22:18339130..21111370 [GRCh38]
Chr22:19024656..21465659 [GRCh37]
Chr22:17404656..19795659 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18161474-21111373)x1 copy number loss See cases [RCV000142151] Chr22:18161474..21111373 [GRCh38]
Chr22:18644241..21465662 [GRCh37]
Chr22:17024241..19795662 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:20363364-21111373)x1 copy number loss See cases [RCV000142113] Chr22:20363364..21111373 [GRCh38]
Chr22:20717654..21465662 [GRCh37]
Chr22:19047654..19795662 [NCBI36]
Chr22:22q11.21
uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:20362587-21111370)x3 copy number gain See cases [RCV000142179] Chr22:20362587..21111370 [GRCh38]
Chr22:20716877..21465659 [GRCh37]
Chr22:19046877..19795659 [NCBI36]
Chr22:22q11.21
uncertain significance
GRCh38/hg38 22q11.21(chr22:20378147-21151128)x3 copy number gain See cases [RCV000142883] Chr22:20378147..21151128 [GRCh38]
Chr22:20732437..21505417 [GRCh37]
Chr22:19062437..19835417 [NCBI36]
Chr22:22q11.21
uncertain significance
GRCh38/hg38 22q11.21(chr22:18389245-21109830)x1 copy number loss See cases [RCV000142988] Chr22:18389245..21109830 [GRCh38]
Chr22:20659547..21464119 [GRCh37]
Chr22:18989547..19794119 [NCBI36]
Chr22:22q11.21
likely pathogenic|uncertain significance
GRCh38/hg38 22q11.21(chr22:18389245-21151128)x1 copy number loss See cases [RCV000142670] Chr22:18389245..21151128 [GRCh38]
Chr22:20659547..21505417 [GRCh37]
Chr22:18989547..19835417 [NCBI36]
Chr22:22q11.21
uncertain significance
GRCh38/hg38 22q11.21(chr22:18178957-21454720)x1 copy number loss See cases [RCV000142783] Chr22:18178957..21454720 [GRCh38]
Chr22:18661724..21809009 [GRCh37]
Chr22:17041724..20139009 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21307146)x1 copy number loss See cases [RCV000142734] Chr22:18339130..21307146 [GRCh38]
Chr22:18765085..21661435 [GRCh37]
Chr22:17145085..19991435 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21447315)x3 copy number gain See cases [RCV000142641] Chr22:18339130..21447315 [GRCh38]
Chr22:18919942..21801604 [GRCh37]
Chr22:17299942..20131604 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1 copy number loss See cases [RCV000143362] Chr22:18339130..21111373 [GRCh38]
Chr22:18916827..21465662 [GRCh37]
Chr22:17296827..19795662 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x3 copy number gain See cases [RCV000143391] Chr22:18339130..21111370 [GRCh38]
Chr22:18916828..21465659 [GRCh37]
Chr22:17296828..19795659 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1 copy number loss See cases [RCV000143442] Chr22:18339130..21111373 [GRCh38]
Chr22:18970561..21465662 [GRCh37]
Chr22:17350561..19795662 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1 copy number loss See cases [RCV000143225] Chr22:18339130..21111373 [GRCh38]
Chr22:18916842..21465662 [GRCh37]
Chr22:17296842..19795662 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x3 copy number gain See cases [RCV000143229] Chr22:18339130..21111370 [GRCh38]
Chr22:18916842..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1 copy number loss See cases [RCV000143234] Chr22:18339130..21111370 [GRCh38]
Chr22:18916842..21465659 [GRCh37]
Chr22:17296842..19795659 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1 copy number loss See cases [RCV000143126] Chr22:18339130..21111373 [GRCh38]
Chr22:18916828..21465662 [GRCh37]
Chr22:17296828..19795662 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 copy number gain See cases [RCV000148047] Chr22:18339130..21207225 [GRCh38]
Chr22:18919942..21561514 [GRCh37]
Chr22:17299942..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:20726972-21207225)x3 copy number gain See cases [RCV000148048] Chr22:20726972..21207225 [GRCh38]
Chr22:21081260..21561514 [GRCh37]
Chr22:19411260..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:20705381-21111370)x1 copy number loss See cases [RCV000143539] Chr22:20705381..21111370 [GRCh38]
Chr22:21059669..21465659 [GRCh37]
Chr22:19389669..19795659 [NCBI36]
Chr22:22q11.21
uncertain significance
GRCh38/hg38 22q11.21(chr22:18178957-21151128)x3 copy number gain See cases [RCV000148257] Chr22:18178957..21151128 [GRCh38]
Chr22:18661724..21505417 [GRCh37]
Chr22:17041724..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3 copy number gain See cases [RCV000148103] Chr22:18339130..21151128 [GRCh38]
Chr22:18919942..21505417 [GRCh37]
Chr22:17299942..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss See cases [RCV000148104] Chr22:18339130..21151128 [GRCh38]
Chr22:18919942..21505417 [GRCh37]
Chr22:17299942..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 copy number gain See cases [RCV000148206] Chr22:18339130..21086225 [GRCh38]
Chr22:18919942..21440514 [GRCh37]
Chr22:17299942..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:20726972-21151128)x3 copy number gain See cases [RCV000148207] Chr22:20726972..21151128 [GRCh38]
Chr22:21081260..21505417 [GRCh37]
Chr22:19411260..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:20400132-21151128)x1 copy number loss See cases [RCV000148143] Chr22:20400132..21151128 [GRCh38]
Chr22:20754422..21505417 [GRCh37]
Chr22:19084422..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:20726972-21151128)x1 copy number loss See cases [RCV000148144] Chr22:20726972..21151128 [GRCh38]
Chr22:21081260..21505417 [GRCh37]
Chr22:19411260..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x1 copy number loss See cases [RCV000148160] Chr22:18339130..21207225 [GRCh38]
Chr22:18919942..21561514 [GRCh37]
Chr22:17299942..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 copy number loss See cases [RCV000148136] Chr22:18339130..21086225 [GRCh38]
Chr22:18919942..21440514 [GRCh37]
Chr22:17299942..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:20400132-21151128)x3 copy number gain See cases [RCV000148138] Chr22:20400132..21151128 [GRCh38]
Chr22:20754422..21505417 [GRCh37]
Chr22:19084422..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21151128)x1 copy number loss See cases [RCV000148140] Chr22:18178957..21151128 [GRCh38]
Chr22:18661724..21505417 [GRCh37]
Chr22:17041724..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18145252-21151128)x1 copy number loss See cases [RCV000148178] Chr22:18145252..21151128 [GRCh38]
Chr22:18628019..21505417 [GRCh37]
Chr22:17008019..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21207225)x1 copy number loss See cases [RCV000148186] Chr22:18178957..21207225 [GRCh38]
Chr22:18661724..21561514 [GRCh37]
Chr22:17041724..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21086225)x1 copy number loss See cases [RCV000148098] Chr22:18178957..21086225 [GRCh38]
Chr22:18661724..21440514 [GRCh37]
Chr22:17041724..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss See cases [RCV000148100] Chr22:18339130..21151128 [GRCh38]
Chr22:18706001..21505417 [GRCh37]
Chr22:17086001..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 copy number loss See cases [RCV000148101] Chr22:18339130..21086225 [GRCh38]
Chr22:18706001..21440514 [GRCh37]
Chr22:17086001..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3 copy number gain See cases [RCV000148102] Chr22:18339130..21454720 [GRCh38]
Chr22:18919942..21809009 [GRCh37]
Chr22:17299942..20139009 [NCBI36]
Chr22:22q11.21
pathogenic
NM_058004.4(PI4KA):c.912C>G (p.Ile304Met) single nucleotide variant Long QT syndrome [RCV000190239] Chr22:20813451 [GRCh38]
Chr22:21167739 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21-11.23(chr22:20749625-23972878)x1 copy number loss See cases [RCV000240250] Chr22:20749625..23972878 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.21(chr22:18894339-21440514)x1 copy number loss See cases [RCV000240142] Chr22:18894339..21440514 [GRCh37]
Chr22:22q11.21
pathogenic
NM_058004.4(PI4KA):c.421G>A (p.Asp141Asn) single nucleotide variant Long QT syndrome [RCV000190205] Chr22:20824361 [GRCh38]
Chr22:21178649 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:18900442-21440514)x1 copy number loss See cases [RCV000240087] Chr22:18900442..21440514 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:17012935-21431054)x4 copy number gain See cases [RCV000258792] Chr22:17012935..21431054 [GRCh37]
Chr22:22q11.1-11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:20958986-21440514)x3 copy number gain See cases [RCV000239800] Chr22:20958986..21440514 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:18919579-21460595)x1 copy number loss See cases [RCV000258811] Chr22:18919579..21460595 [GRCh37]
Chr22:22q11.21
pathogenic|likely pathogenic
GRCh37/hg19 22q11.21(chr22:18916843-21915509)x1 copy number loss not provided [RCV002473950] Chr22:18916843..21915509 [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(chr22:21056165-21440514)x3 copy number gain See cases [RCV000240021] Chr22:21056165..21440514 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:18650664-21440514)x3 copy number gain See cases [RCV000240570] Chr22:18650664..21440514 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3 copy number gain See cases [RCV000240348] Chr22:16054691..27296513 [GRCh37]
Chr22:22q11.1-12.1
pathogenic
GRCh37/hg19 22q11.1-11.22(chr22:17264511-23238029)x3 copy number gain See cases [RCV000240483] Chr22:17264511..23238029 [GRCh37]
Chr22:22q11.1-11.22
pathogenic
GRCh37/hg19 22q11.21(chr22:21074920-21440514)x1 copy number loss See cases [RCV000240353] Chr22:21074920..21440514 [GRCh37]
Chr22:22q11.21
likely pathogenic
GRCh37/hg19 22q11.21(chr22:19023801-21440514)x1 copy number loss See cases [RCV000240303] Chr22:19023801..21440514 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18889950-21466053)x1 copy number loss not provided [RCV001270642] Chr22:18889950..21466053 [GRCh37]
Chr22:22q11.21
pathogenic
NM_058004.4(PI4KA):c.4766C>A (p.Ala1589Glu) single nucleotide variant Tuberous sclerosis 1 [RCV004813351] Chr22:20727781 [GRCh38]
Chr22:21082069 [GRCh37]
uncertain significance
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
NM_058004.4(PI4KA):c.973C>T (p.Pro325Ser) single nucleotide variant not provided [RCV003239199] Chr22:20813390 [GRCh38]
Chr22:21167678 [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(chr22:18916842-21800471)x1 copy number loss See cases [RCV000449444] Chr22:18916842..21800471 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:21065882-21440455)x3 copy number gain See cases [RCV000449379] Chr22:21065882..21440455 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:21044196-21440455)x4 copy number gain See cases [RCV000449176] Chr22:21044196..21440455 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:19024656-21798907)x1 copy number loss See cases [RCV000449418] Chr22:19024656..21798907 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21465661)x1 copy number loss See cases [RCV000446325] Chr22:18916842..21465661 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.21(chr22:18970561-21465659)x3 copy number gain See cases [RCV000446476] Chr22:18970561..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:21059669-21461606)x1 copy number loss See cases [RCV000446362] Chr22:21059669..21461606 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21465659)x3 copy number gain See cases [RCV000447318] Chr22:18644790..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18917047-21465659)x1 copy number loss See cases [RCV000446495] Chr22:18917047..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:21045809-21065882)x3 copy number gain See cases [RCV000446200] Chr22:21045809..21065882 [GRCh37]
Chr22:22q11.21
benign
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(chr22:21044808-21065882)x3 copy number gain See cases [RCV000447114] Chr22:21044808..21065882 [GRCh37]
Chr22:22q11.21
benign
GRCh37/hg19 22q11.21(chr22:18644790-21915509)x1 copy number loss See cases [RCV000447211] Chr22:18644790..21915509 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21465659)x1 copy number loss See cases [RCV000446125] Chr22:18916842..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:19024656-21465659)x3 copy number gain See cases [RCV000446638] Chr22:19024656..21465659 [GRCh37]
Chr22:22q11.21
pathogenic|likely pathogenic
GRCh37/hg19 22q11.21(chr22:19023801-21440455)x1 copy number loss See cases [RCV000446681] Chr22:19023801..21440455 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18890042-21440455)x1 copy number loss See cases [RCV000446730] Chr22:18890042..21440455 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21800797)x1 copy number loss See cases [RCV000446918] Chr22:18916842..21800797 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:19024792-21465659)x3 copy number gain See cases [RCV000446402] Chr22:19024792..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18937381-21465659)x3 copy number gain See cases [RCV000447496] Chr22:18937381..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18636748-21465659)x3 copy number gain See cases [RCV000447019] Chr22:18636748..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21465662)x1 copy number loss See cases [RCV000447026] Chr22:18916842..21465662 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:20725308-21465659)x3 copy number gain See cases [RCV000446738] Chr22:20725308..21465659 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:18644790-21800471)x1 copy number loss See cases [RCV000446545] Chr22:18644790..21800471 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21798907)x1 copy number loss See cases [RCV000447063] Chr22:18648866..21798907 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18650664-21440455)x1 copy number loss See cases [RCV000446173] Chr22:18650664..21440455 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21465659)x1 copy number loss See cases [RCV000446944] Chr22:18648866..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18645353-21465662)x1 copy number loss See cases [RCV000447176] Chr22:18645353..21465662 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21798907)x1 copy number loss See cases [RCV000447508] Chr22:18644790..21798907 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21029655-22481498)x1 copy number loss See cases [RCV000446664] Chr22:21029655..22481498 [GRCh37]
Chr22:22q11.21-11.22
pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21465659)x3 copy number gain See cases [RCV000445951] Chr22:18648866..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21915509)x1 copy number loss See cases [RCV000445962] Chr22:18916842..21915509 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21798907)x1 copy number loss See cases [RCV000445855] Chr22:18916842..21798907 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21025654-22336268)x3 copy number gain See cases [RCV000445877] Chr22:21025654..22336268 [GRCh37]
Chr22:22q11.21-11.22
pathogenic
NM_000185.4(SERPIND1):c.980A>C (p.Gln327Pro) single nucleotide variant not provided [RCV000440205]|not specified [RCV004022523] Chr22:20784062 [GRCh38]
Chr22:21138350 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:20717654-21465659)x3 copy number gain See cases [RCV000445676] Chr22:20717654..21465659 [GRCh37]
Chr22:22q11.21
conflicting data from submitters
GRCh37/hg19 22q11.21(chr22:21049198-21065882)x3 copy number gain See cases [RCV000447886] Chr22:21049198..21065882 [GRCh37]
Chr22:22q11.21
benign
GRCh37/hg19 22q11.21(chr22:21060189-21465659)x3 copy number gain See cases [RCV000447895] Chr22:21060189..21465659 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:18631979-21465659)x3 copy number gain See cases [RCV000448925] Chr22:18631979..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21800797)x1 copy number loss See cases [RCV000448538] Chr22:18648866..21800797 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21465662)x3 copy number gain See cases [RCV000448166] Chr22:18916842..21465662 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916827-21465662)x1 copy number loss See cases [RCV000447793] Chr22:18916827..21465662 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.21(chr22:21055472-21065882)x3 copy number gain See cases [RCV000448343] Chr22:21055472..21065882 [GRCh37]
Chr22:22q11.21
benign|likely benign
GRCh37/hg19 22q11.21(chr22:18644790-21465659)x1 copy number loss See cases [RCV000448762] Chr22:18644790..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18894339-21440455)x1 copy number loss See cases [RCV000448077] Chr22:18894339..21440455 [GRCh37]
Chr22:22q11.21
pathogenic
NC_000022.10:g.(?_20721034)_(21460598_?)del deletion Schizophrenia [RCV000416918] Chr22:20721034..21460598 [GRCh37]
Chr22:19051034..19790598 [NCBI36]
Chr22:22q11.21
likely pathogenic
GRCh37/hg19 22q11.1-11.23(chr22:16888899-23723805)x3 copy number gain See cases [RCV000448224] Chr22:16888899..23723805 [GRCh37]
Chr22:22q11.1-11.23
pathogenic
GRCh37/hg19 22q11.21(chr22:18650664-21440455)x3 copy number gain See cases [RCV000448770] Chr22:18650664..21440455 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:21044196-21065882)x3 copy number gain See cases [RCV000448476] Chr22:21044196..21065882 [GRCh37]
Chr22:22q11.21
benign
GRCh37/hg19 22q11.21(chr22:19024657-21465662)x1 copy number loss See cases [RCV000510463] Chr22:19024657..21465662 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18917047-21465659)x1 copy number loss See cases [RCV000510221] Chr22:18917047..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18917047-21465662)x1 copy number loss See cases [RCV000510658] Chr22:18917047..21465662 [GRCh37]
Chr22:22q11.21
pathogenic
NM_058004.4(PI4KA):c.2987+42A>G single nucleotide variant not specified [RCV000499738] Chr22:20752861 [GRCh38]
Chr22:21107149 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:20716876-21465662)x1 copy number loss See cases [RCV000510715] Chr22:20716876..21465662 [GRCh37]
Chr22:22q11.21
likely benign
GRCh37/hg19 22q11.21-11.22(chr22:21029655-22481498)x1 copy number loss See cases [RCV000511898] Chr22:21029655..22481498 [GRCh37]
Chr22:22q11.21-11.22
uncertain significance
GRCh37/hg19 22q11.21(chr22:21059669-21465662)x1 copy number loss See cases [RCV000511667] Chr22:21059669..21465662 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:20728956-21465659)x3 copy number gain See cases [RCV000510753] Chr22:20728956..21465659 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:20725308-21465659)x3 copy number gain See cases [RCV000510990] Chr22:20725308..21465659 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.21(chr22:21081260-21431174) copy number gain Abnormality of the eye [RCV000626529] Chr22:21081260..21431174 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.3559C>T (p.Gln1187Ter) single nucleotide variant not provided [RCV000514115] Chr22:20742662 [GRCh38]
Chr22:21096950 [GRCh37]
Chr22:22q11.21
likely pathogenic
NM_058004.4(PI4KA):c.2114G>A (p.Cys705Tyr) single nucleotide variant Inborn genetic diseases [RCV003291192] Chr22:20796309 [GRCh38]
Chr22:21150597 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_000185.4(SERPIND1):c.218G>A (p.Gly73Glu) single nucleotide variant not provided [RCV003239275] Chr22:20779530 [GRCh38]
Chr22:21133818 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_000185.4(SERPIND1):c.1338C>A (p.Asn446Lys) single nucleotide variant Thrombus [RCV003313866] Chr22:20786904 [GRCh38]
Chr22:21141192 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:18916842-21804716)x1 copy number loss See cases [RCV000512402] Chr22:18916842..21804716 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21465659)x3 copy number gain See cases [RCV000512387] Chr22:18644790..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.21(chr22:18894835-21505417) copy number loss Ear malformation [RCV000626528] Chr22:18894835..21505417 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:20733495-21463730)x1 copy number loss See cases [RCV000663402] Chr22:20733495..21463730 [GRCh37]
Chr22:22q11.21
pathogenic
NM_058004.4(PI4KA):c.3496A>G (p.Met1166Val) single nucleotide variant not provided [RCV000658930] Chr22:20742725 [GRCh38]
Chr22:21097013 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:18970560-21465662)x3 copy number gain not provided [RCV000684508] Chr22:18970560..21465662 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18935463-21465659)x1 copy number loss not provided [RCV000684509] Chr22:18935463..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21465662)x1 copy number loss not provided [RCV000684510] Chr22:18916842..21465662 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916827-21465659)x3 copy number gain not provided [RCV000684511] Chr22:18916827..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18645353-21465659)x3 copy number gain not provided [RCV000684512] Chr22:18645353..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18644542-21465659)x1 copy number loss not provided [RCV000684513] Chr22:18644542..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:20716876-23819697)x1 copy number loss not provided [RCV000684515] Chr22:20716876..23819697 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21800797)x1 copy number loss not provided [RCV000684516] Chr22:18648866..21800797 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18626108-21800797)x1 copy number loss not provided [RCV000684517] Chr22:18626108..21800797 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21915509)x1 copy number loss not provided [RCV000684519] Chr22:18644790..21915509 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21798907)x1 copy number loss not provided [RCV000684514] Chr22:18916842..21798907 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:21075675-21465662)x1 copy number loss not provided [RCV000684473] Chr22:21075675..21465662 [GRCh37]
Chr22:22q11.21
pathogenic|likely pathogenic
GRCh37/hg19 22q11.21(chr22:21049799-21465662)x1 copy number loss not provided [RCV000684476] Chr22:21049799..21465662 [GRCh37]
Chr22:22q11.21
pathogenic|likely pathogenic
GRCh37/hg19 22q11.21(chr22:20732808-21464764)x3 copy number gain not provided [RCV000684484] Chr22:20732808..21464764 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:20716876-21465662)x1 copy number loss not provided [RCV000684485] Chr22:20716876..21465662 [GRCh37]
Chr22:22q11.21
pathogenic|likely pathogenic
GRCh37/hg19 22q11.21(chr22:20716876-21798907)x1 copy number loss not provided [RCV000684489] Chr22:20716876..21798907 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:20311903-21465659)x1 copy number loss not provided [RCV000684490] Chr22:20311903..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:20311903-21800797)x1 copy number loss not provided [RCV000684498] Chr22:20311903..21800797 [GRCh37]
Chr22:22q11.21
pathogenic
NM_000185.4(SERPIND1):c.1409C>T (p.Thr470Ile) single nucleotide variant Deep venous thrombosis [RCV000852022] Chr22:20786975 [GRCh38]
Chr22:21141263 [GRCh37]
Chr22:22q11.21
uncertain significance
NC_000022.11:g.(?_18159879)_(21362822_?)del deletion Schizophrenia [RCV000754240] Chr22:18159879..21362822 [GRCh38]
Chr22:22q11.21
pathogenic
NC_000022.11:g.(?_18159879)_(21387988_?)del deletion Schizophrenia [RCV000754241] Chr22:18159879..21387988 [GRCh38]
Chr22:22q11.21
pathogenic
NC_000022.11:g.(?_18163926)_(21277123_?)del deletion Schizophrenia [RCV000754242] Chr22:18163926..21277123 [GRCh38]
Chr22:22q11.21
pathogenic
NC_000022.11:g.(?_18802709)_(21343709_?)del deletion Schizophrenia [RCV000754243] Chr22:18802709..21343709 [GRCh38]
Chr22:22q11.21
pathogenic
NC_000022.11:g.(?_18832909)_(21123588_?)del deletion Schizophrenia [RCV000754244] Chr22:18832909..21123588 [GRCh38]
Chr22:22q11.21
pathogenic
NC_000022.11:g.(?_18880919)_(21123588_?)del deletion Schizophrenia [RCV000754247] Chr22:18880919..21123588 [GRCh38]
Chr22:22q11.21
pathogenic
Single allele duplication Autism [RCV000754249] Chr22:18904453..21277123 [GRCh38]
Chr22:22q11.21
pathogenic
Single allele duplication Autism [RCV000754250] Chr22:19295635..21510330 [GRCh38]
Chr22:22q11.21
pathogenic
NC_000022.11:g.(?_20346735)_(21149007_?)del deletion Schizophrenia [RCV000754251] Chr22:20346735..21149007 [GRCh38]
Chr22:22q11.21
likely pathogenic
NC_000022.11:g.(?_20346735)_(21277123_?)del deletion Schizophrenia [RCV000754252] Chr22:20346735..21277123 [GRCh38]
Chr22:22q11.21
likely pathogenic
NC_000022.11:g.(?_20358985)_(21123588_?)del deletion Schizophrenia [RCV000754253] Chr22:20358985..21123588 [GRCh38]
Chr22:22q11.21
likely pathogenic
NC_000022.11:g.(?_18846939)_(21221413_?)del deletion Schizophrenia [RCV000754245] Chr22:18846939..21221413 [GRCh38]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18675473-21465050)x3 copy number gain not provided [RCV000741726] Chr22:18675473..21465050 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18728118-21811991)x1 copy number loss not provided [RCV000741727] Chr22:18728118..21811991 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18844632-21463730)x3 copy number gain not provided [RCV000741728] Chr22:18844632..21463730 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18844632-21608479)x1 copy number loss not provided [RCV000741729] Chr22:18844632..21608479 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18861748-21463730)x1 copy number loss not provided [RCV000741730] Chr22:18861748..21463730 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18872508-21465050)x1 copy number loss not provided [RCV000741731] Chr22:18872508..21465050 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18875869-21470273)x1 copy number loss not provided [RCV000741733] Chr22:18875869..21470273 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18875956-21466715)x1 copy number loss not provided [RCV000741734] Chr22:18875956..21466715 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18878409-21465050)x1 copy number loss not provided [RCV000741735] Chr22:18878409..21465050 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18878409-21467387)x3 copy number gain not provided [RCV000741736] Chr22:18878409..21467387 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18878409-21907671)x1 copy number loss not provided [RCV000741737] Chr22:18878409..21907671 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18884401-21467387)x3 copy number gain not provided [RCV000741738] Chr22:18884401..21467387 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:18886915-21463730)x1 copy number loss not provided [RCV000741739] Chr22:18886915..21463730 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18886915-21465050)x1 copy number loss not provided [RCV000741740] Chr22:18886915..21465050 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18886915-21467387)x1 copy number loss not provided [RCV000741741] Chr22:18886915..21467387 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18889490-21466715)x1 copy number loss not provided [RCV000741743] Chr22:18889490..21466715 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18891398-21463730)x3 copy number gain not provided [RCV000741744] Chr22:18891398..21463730 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:19016663-21463730)x1 copy number loss not provided [RCV000741747] Chr22:19016663..21463730 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.21(chr22:20711589-21465050)x3 copy number gain not provided [RCV000741762] Chr22:20711589..21465050 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:20733495-21463730)x1 copy number loss not provided [RCV000741764] Chr22:20733495..21463730 [GRCh37]
Chr22:22q11.21
likely benign
GRCh37/hg19 22q11.21(chr22:20733495-21467387)x3 copy number gain not provided [RCV000741765] Chr22:20733495..21467387 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:20796175-21608479)x1 copy number loss not provided [RCV000741766] Chr22:20796175..21608479 [GRCh37]
Chr22:22q11.21
benign
GRCh37/hg19 22q11.21(chr22:21012096-21139955)x3 copy number gain not provided [RCV000741772] Chr22:21012096..21139955 [GRCh37]
Chr22:22q11.21
benign
GRCh37/hg19 22q11.21(chr22:21061667-21465050)x1 copy number loss not provided [RCV000741773] Chr22:21061667..21465050 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:21062168-21463730)x1 copy number loss not provided [RCV000741774] Chr22:21062168..21463730 [GRCh37]
Chr22:22q11.21
likely benign
GRCh37/hg19 22q11.21(chr22:21091815-21462353)x3 copy number gain not provided [RCV000741775] Chr22:21091815..21462353 [GRCh37]
Chr22:22q11.21
benign
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_058004.4(PI4KA):c.2708+187A>C single nucleotide variant not provided [RCV001680133] Chr22:20764630 [GRCh38]
Chr22:21118918 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.1820+76G>A single nucleotide variant not provided [RCV001612570] Chr22:20799595 [GRCh38]
Chr22:21153883 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.5923+41del deletion not provided [RCV001709096] Chr22:20711300 [GRCh38]
Chr22:21065588 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.6173+244A>C single nucleotide variant not provided [RCV001534451] Chr22:20709664 [GRCh38]
Chr22:21063952 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.5596G>A (p.Asp1866Asn) single nucleotide variant Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV002485975]|not provided [RCV000762048] Chr22:20712773 [GRCh38]
Chr22:21067061 [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_004782.4(SNAP29):c.18A>G (p.Lys6=) single nucleotide variant CEDNIK syndrome [RCV000342922]|not provided [RCV000713380]|not specified [RCV000444231] Chr22:20859128 [GRCh38]
Chr22:21213416 [GRCh37]
Chr22:22q11.21
benign|no classifications from unflagged records
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_058004.4(PI4KA):c.2987+38A>G single nucleotide variant Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001788710]|not provided [RCV001663055]|not specified [RCV003487622] Chr22:20752865 [GRCh38]
Chr22:21107153 [GRCh37]
Chr22:22q11.21
benign
GRCh37/hg19 22q11.21(chr22:18661724-21505417)x1 copy number loss Velocardiofacial syndrome [RCV000856641] Chr22:18661724..21505417 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18912231-21465672)x1 copy number loss Velocardiofacial syndrome [RCV000788056] Chr22:18912231..21465672 [GRCh37]
Chr22:22q11.21
pathogenic
NM_058004.4(PI4KA):c.5462-306C>A single nucleotide variant not provided [RCV001608852] Chr22:20713696 [GRCh38]
Chr22:21067984 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.4773+29G>A single nucleotide variant not provided [RCV001679099] Chr22:20727745 [GRCh38]
Chr22:21082033 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.3364-289A>G single nucleotide variant not provided [RCV001612459] Chr22:20745009 [GRCh38]
Chr22:21099297 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.2665A>G (p.Met889Val) single nucleotide variant not provided [RCV000997866] Chr22:20764860 [GRCh38]
Chr22:21119148 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_000185.4(SERPIND1):c.941G>C (p.Arg314Pro) single nucleotide variant not provided [RCV000997869] Chr22:20784023 [GRCh38]
Chr22:21138311 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_000185.4(SERPIND1):c.1058T>A (p.Ile353Asn) single nucleotide variant not provided [RCV000997870] Chr22:20784140 [GRCh38]
Chr22:21138428 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.529+29A>G single nucleotide variant Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001788627]|not provided [RCV001609807] Chr22:20820510 [GRCh38]
Chr22:21174798 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.457-23T>C single nucleotide variant not provided [RCV001609830] Chr22:20820634 [GRCh38]
Chr22:21174922 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.856+273A>G single nucleotide variant not provided [RCV001681589] Chr22:20818210 [GRCh38]
Chr22:21172498 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.3033G>C (p.Leu1011=) single nucleotide variant PI4KA-related disorder [RCV004543624]|not provided [RCV000967581] Chr22:20751710 [GRCh38]
Chr22:21105998 [GRCh37]
Chr22:22q11.21
benign|likely benign
NM_000185.4(SERPIND1):c.1164-5T>C single nucleotide variant SERPIND1-related disorder [RCV003940433]|not provided [RCV000881686] Chr22:20785999 [GRCh38]
Chr22:21140287 [GRCh37]
Chr22:22q11.21
benign|likely benign
NM_058004.4(PI4KA):c.3154-4C>T single nucleotide variant not provided [RCV000982980] Chr22:20749998 [GRCh38]
Chr22:21104286 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.3840G>A (p.Ser1280=) single nucleotide variant not provided [RCV000948114] Chr22:20734455 [GRCh38]
Chr22:21088743 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.24AGGCGG[6] (p.Gly15_Gly18dup) microsatellite not provided [RCV000948115] Chr22:20858678..20858679 [GRCh38]
Chr22:21212966..21212967 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.6036C>T (p.Pro2012=) single nucleotide variant not provided [RCV000966267] Chr22:20710746 [GRCh38]
Chr22:21065034 [GRCh37]
Chr22:22q11.21
benign|likely benign
NM_058004.4(PI4KA):c.24AGGCGG[3] (p.Gly17_Gly18del) microsatellite not provided [RCV000882073]|not specified [RCV001817076] Chr22:20858679..20858684 [GRCh38]
Chr22:21212967..21212972 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.24AGGCGG[5] (p.Gly18_Cys19insGlyGly) microsatellite not provided [RCV000968791]|not specified [RCV001819086] Chr22:20858678..20858679 [GRCh38]
Chr22:21212966..21212967 [GRCh37]
Chr22:22q11.21
benign
NM_000185.4(SERPIND1):c.231C>A (p.Asp77Glu) single nucleotide variant Heparin cofactor II deficiency [RCV002222057]|not provided [RCV000970762] Chr22:20779543 [GRCh38]
Chr22:21133831 [GRCh37]
Chr22:22q11.21
benign|uncertain significance
NM_058004.4(PI4KA):c.508G>C (p.Ala170Pro) single nucleotide variant Esophageal atresia [RCV000984668] Chr22:20820560 [GRCh38]
Chr22:21174848 [GRCh37]
Chr22:22q11.21
uncertain significance
NC_000022.10:g.(?_21067569)_(21414817_?)del deletion not provided [RCV001031466] Chr22:21067569..21414817 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18650745-21460220) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767592] Chr22:18650745..21460220 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18912514-21431174) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767689] Chr22:18912514..21431174 [GRCh37]
Chr22:22q11.21
pathogenic
NM_058004.4(PI4KA):c.3449C>T (p.Ala1150Val) single nucleotide variant Inborn genetic diseases [RCV003246501] Chr22:20744635 [GRCh38]
Chr22:21098923 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.156+5C>G single nucleotide variant PI4KA-related disorder [RCV004538937]|not provided [RCV003312553] Chr22:20858565 [GRCh38]
Chr22:21212853 [GRCh37]
Chr22:22q11.21
benign|likely benign
GRCh37/hg19 22q11.21(chr22:18900755-21800277) copy number loss DiGeorge syndrome [RCV000767747] Chr22:18900755..21800277 [GRCh37]
Chr22:22q11.21
pathogenic
NM_058004.4(PI4KA):c.2386del (p.Arg796fs) deletion Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001089953] Chr22:20765636 [GRCh38]
Chr22:21119924 [GRCh37]
Chr22:22q11.21
likely 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(chr22:18650803-21460220) 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(chr22:18892575-21460220) copy number loss DiGeorge syndrome [RCV000767692] Chr22:18892575..21460220 [GRCh37]
Chr22:22q11.21
pathogenic
NM_000185.4(SERPIND1):c.467T>C (p.Val156Ala) single nucleotide variant not provided [RCV000906698] Chr22:20779779 [GRCh38]
Chr22:20779779..20779780 [GRCh38]
Chr22:21134067 [GRCh37]
Chr22:21134067..21134068 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.3591C>T (p.Thr1197=) single nucleotide variant not provided [RCV000903991] Chr22:20742630 [GRCh38]
Chr22:21096918 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.5511C>T (p.Ala1837=) single nucleotide variant not provided [RCV000886553] Chr22:20713341 [GRCh38]
Chr22:21067629 [GRCh37]
Chr22:22q11.21
likely benign
GRCh37/hg19 22q11.21(chr22:18650803-21386010) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767595] Chr22:18650803..21386010 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18923898-21431174) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767630] Chr22:18923898..21431174 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18892575-21460220) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767596] Chr22:18892575..21460220 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18900755-21075586) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767598] Chr22:18900755..21075586 [GRCh37]
Chr22:22q11.21
pathogenic
Single allele deletion Abnormal bleeding [RCV000852267] Chr22:19709400..21142058 [GRCh37]
Chr22:22q11.21
likely pathogenic
NM_058004.4(PI4KA):c.6099G>A (p.Ala2033=) single nucleotide variant not provided [RCV000960088] Chr22:20709982 [GRCh38]
Chr22:21064270 [GRCh37]
Chr22:22q11.21
benign|likely benign
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_000185.4(SERPIND1):c.1235T>C (p.Met412Thr) single nucleotide variant not provided [RCV000997871] Chr22:20786075 [GRCh38]
Chr22:21140363 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:21033397-21465659)x3 copy number gain not provided [RCV000848285] Chr22:21033397..21465659 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:20716876-21800471)x1 copy number loss 22q11.2 central deletion syndrome [RCV000788066] Chr22:20716876..21800471 [GRCh37]
Chr22:22q11.21
likely pathogenic
GRCh37/hg19 22q11.21(chr22:20717654-21465662)x3 copy number gain not provided [RCV000848729] Chr22:20717654..21465662 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:21058887-21465659)x3 copy number gain not provided [RCV000849879] Chr22:21058887..21465659 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:21062566-21463730)x1 copy number loss See cases [RCV000790588] Chr22:21062566..21463730 [GRCh37]
Chr22:22q11.21
likely pathogenic
GRCh37/hg19 22q11.21(chr22:20716876-21800471)x1 copy number loss 22q11.2 central deletion syndrome [RCV000788067] Chr22:20716876..21800471 [GRCh37]
Chr22:22q11.21
likely pathogenic
GRCh37/hg19 22q11.21(chr22:20921342-21459713)x1 copy number loss 22q11.2 central deletion syndrome [RCV000788068] Chr22:20921342..21459713 [GRCh37]
Chr22:22q11.21
likely pathogenic
GRCh37/hg19 22q11.21(chr22:18631364-21800471)x1 copy number loss Velocardiofacial syndrome [RCV000788057] Chr22:18631364..21800471 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18889490-21917190)x1 copy number loss See cases [RCV000790601] Chr22:18889490..21917190 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:20729388-21465662)x1 copy number loss not provided [RCV000849720] Chr22:20729388..21465662 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:20728956-21465662)x3 copy number gain not provided [RCV000845862] Chr22:20728956..21465662 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:20978976-21129436)x3 copy number gain not provided [RCV000847581] Chr22:20978976..21129436 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:21033397-21465662)x3 copy number gain not provided [RCV001007172] Chr22:21033397..21465662 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787412] Chr22:18890264..21540347 [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(chr22:18919477-21800471)x1 copy number loss Velocardiofacial syndrome [RCV000788060] Chr22:18919477..21800471 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:21059669-21800471)x1 copy number loss 22q11.2 central deletion syndrome [RCV000788069] Chr22:21059669..21800471 [GRCh37]
Chr22:22q11.21
likely pathogenic
NM_000185.4(SERPIND1):c.260G>A (p.Ser87Asn) single nucleotide variant not provided [RCV000962863] Chr22:20779572 [GRCh38]
Chr22:21133860 [GRCh37]
Chr22:22q11.21
benign
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(chr22:19819477-21464764)x3 copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000788064] Chr22:19819477..21464764 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:21033586-21800471)x1 copy number loss 22q11.2 central deletion syndrome [RCV000788065] Chr22:21033586..21800471 [GRCh37]
Chr22:22q11.21
likely pathogenic
GRCh37/hg19 22q11.21(chr22:20992308-21464764)x3 copy number gain 22q11.2 central duplication syndrome [RCV000788070] Chr22:20992308..21464764 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:20729388-21454872)x3 copy number gain 22q11.2 central duplication syndrome [RCV000788071] Chr22:20729388..21454872 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:21062168-21463730)x1 copy number loss See cases [RCV001194551] Chr22:21062168..21463730 [GRCh37]
Chr22:22q11.21
likely pathogenic
GRCh37/hg19 22q11.21(chr22:21029655-21140787)x3 copy number gain not provided [RCV000846211] Chr22:21029655..21140787 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:20732808-21465659)x3 copy number gain not provided [RCV000846336] Chr22:20732808..21465659 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:20716876-21465659)x1 copy number loss not provided [RCV000847762] Chr22:20716876..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
NM_000185.4(SERPIND1):c.842T>C (p.Ile281Thr) single nucleotide variant SERPIND1-related disorder [RCV003928652]|not provided [RCV000997868] Chr22:20780154 [GRCh38]
Chr22:21134442 [GRCh37]
Chr22:22q11.21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 22q11.21-11.22(chr22:21029655-22481498)x1 copy number loss not provided [RCV001007171] Chr22:21029655..22481498 [GRCh37]
Chr22:22q11.21-11.22
pathogenic
NM_000185.4(SERPIND1):c.1333G>C (p.Val445Leu) single nucleotide variant SERPIND1-related disorder [RCV004757278]|Thrombotic stroke [RCV000851682] Chr22:20786899 [GRCh38]
Chr22:21141187 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:18912403-21431174) copy number loss DiGeorge syndrome [RCV001195119] Chr22:18912403..21431174 [GRCh37]
Chr22:22q11.21
pathogenic
NM_058004.4(PI4KA):c.407T>C (p.Val136Ala) single nucleotide variant Inborn genetic diseases [RCV003289901] Chr22:20824375 [GRCh38]
Chr22:21178663 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:18893888-21481925)x1 copy number loss not provided [RCV003312569] Chr22:18893888..21481925 [GRCh37]
Chr22:22q11.21
pathogenic
Single allele deletion Deep venous thrombosis [RCV000852271] Chr22:19710418..21142058 [GRCh37]
Chr22:22q11.21
likely pathogenic
NM_000185.4(SERPIND1):c.1147A>T (p.Lys383Ter) single nucleotide variant Hemorrhage [RCV003313851] Chr22:20784229 [GRCh38]
Chr22:21138517 [GRCh37]
Chr22:22q11.21
likely pathogenic
NC_000022.11:g.18948676_21110520dup duplication Chromosome 22q11.2 microduplication syndrome [RCV003313910] Chr22:18948676..21110520 [GRCh38]
Chr22:22q11.21
pathogenic
NM_058004.4(PI4KA):c.4773+98G>A single nucleotide variant not provided [RCV001643667]|not specified [RCV003487576] Chr22:20727676 [GRCh38]
Chr22:21081964 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.5907T>C (p.Gly1969=) single nucleotide variant Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001788700]|not provided [RCV001657329] Chr22:20711357 [GRCh38]
Chr22:21065645 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.2108+142A>G single nucleotide variant not provided [RCV001666196] Chr22:20798442 [GRCh38]
Chr22:21152730 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.3120G>C (p.Arg1040=) single nucleotide variant not provided [RCV001655132] Chr22:20751326 [GRCh38]
Chr22:21105614 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.1005+38_1005+40dup duplication Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001788601]|not provided [RCV001608351]|not specified [RCV003487507] Chr22:20813317..20813318 [GRCh38]
Chr22:21167605..21167606 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.274-21A>G single nucleotide variant Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001788764]|not provided [RCV001684803] Chr22:20834676 [GRCh38]
Chr22:21188964 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.4160+164C>A single nucleotide variant not provided [RCV001715801] Chr22:20733572 [GRCh38]
Chr22:21087860 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.2988-12C>T single nucleotide variant Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001788829]|not provided [RCV001715803] Chr22:20751767 [GRCh38]
Chr22:21106055 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.5924-55T>C single nucleotide variant not provided [RCV001715805] Chr22:20710913 [GRCh38]
Chr22:21065201 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.3033G>A (p.Leu1011=) single nucleotide variant PI4KA-related disorder [RCV004536267]|not provided [RCV001715808] Chr22:20751710 [GRCh38]
Chr22:21105998 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.4995+228G>T single nucleotide variant not provided [RCV001534751] Chr22:20726260 [GRCh38]
Chr22:21080548 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.5390+38G>A single nucleotide variant Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001788647]|not provided [RCV001638341]|not specified [RCV003487553] Chr22:20714590 [GRCh38]
Chr22:21068878 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.6258-311C>T single nucleotide variant not provided [RCV001707164] Chr22:20708409 [GRCh38]
Chr22:21062697 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.3742-168G>A single nucleotide variant not provided [RCV001688855] Chr22:20734721 [GRCh38]
Chr22:21089009 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.530-211A>G single nucleotide variant not provided [RCV001684875] Chr22:20820111 [GRCh38]
Chr22:21174399 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.3456+181del deletion not provided [RCV001696678] Chr22:20744447 [GRCh38]
Chr22:21098735 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.2328+13650G>A single nucleotide variant not provided [RCV001685866] Chr22:20779543 [GRCh38]
Chr22:21133831 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.5461+209C>T single nucleotide variant not provided [RCV001595568] Chr22:20714249 [GRCh38]
Chr22:21068537 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.5318-71T>A single nucleotide variant not provided [RCV001620855] Chr22:20714771 [GRCh38]
Chr22:21069059 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.6173+220_6173+221insTA insertion not provided [RCV001677118] Chr22:20709687..20709688 [GRCh38]
Chr22:21063975..21063976 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.3742-149A>G single nucleotide variant not provided [RCV001715432] Chr22:20734702 [GRCh38]
Chr22:21088990 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.1002C>T (p.Asn334=) single nucleotide variant not provided [RCV000879200] Chr22:20813361 [GRCh38]
Chr22:21167649 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.1893G>A (p.Pro631=) single nucleotide variant not provided [RCV000969974] Chr22:20799204 [GRCh38]
Chr22:21153492 [GRCh37]
Chr22:22q11.21
benign|likely benign
NM_058004.4(PI4KA):c.5676+8C>G single nucleotide variant not provided [RCV000967892] Chr22:20712685 [GRCh38]
Chr22:21066973 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.4672C>T (p.Leu1558=) single nucleotide variant PI4KA-related disorder [RCV004533482]|Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001336865]|not provided [RCV000909303] Chr22:20729323 [GRCh38]
Chr22:21083611 [GRCh37]
Chr22:22q11.21
benign|likely benign|uncertain significance
NM_058004.4(PI4KA):c.4368C>T (p.Tyr1456=) single nucleotide variant PI4KA-related disorder [RCV004533483]|Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001336864]|not provided [RCV000909304] Chr22:20729932 [GRCh38]
Chr22:21084220 [GRCh37]
Chr22:22q11.21
benign|likely benign|uncertain significance
NM_058004.4(PI4KA):c.5235G>A (p.Ser1745=) single nucleotide variant not provided [RCV000974374] Chr22:20718704 [GRCh38]
Chr22:21072992 [GRCh37]
Chr22:22q11.21
benign|likely benign
NM_058004.4(PI4KA):c.5229C>T (p.Asn1743=) single nucleotide variant not provided [RCV000892718] Chr22:20718710 [GRCh38]
Chr22:21072998 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.4266C>T (p.Thr1422=) single nucleotide variant not provided [RCV000892719] Chr22:20732993 [GRCh38]
Chr22:21087281 [GRCh37]
Chr22:22q11.21
benign|likely benign
NM_058004.4(PI4KA):c.6174-5C>T single nucleotide variant Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001788384]|not provided [RCV000948113] Chr22:20709384 [GRCh38]
Chr22:21063672 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.5955C>T (p.Gly1985=) single nucleotide variant not provided [RCV000972990] Chr22:20710827 [GRCh38]
Chr22:21065115 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.42_53del (p.Gly15_Gly18del) deletion not provided [RCV000972991]|not specified [RCV001819129] Chr22:20858673..20858684 [GRCh38]
Chr22:21212961..21212972 [GRCh37]
Chr22:22q11.21
benign|likely benign
NM_058004.4(PI4KA):c.1227G>C (p.Thr409=) single nucleotide variant not provided [RCV000894581] Chr22:20805107 [GRCh38]
Chr22:21159395 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.5117-171G>A single nucleotide variant not provided [RCV001665226] Chr22:20718993 [GRCh38]
Chr22:21073281 [GRCh37]
Chr22:22q11.21
benign
GRCh37/hg19 22q11.21(chr22:20728956-21465662)x3 copy number gain Oppositional defiant disorder [RCV001030055] Chr22:20728956..21465662 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.6173+76C>T single nucleotide variant not provided [RCV001539604] Chr22:20709832 [GRCh38]
Chr22:21064120 [GRCh37]
Chr22:22q11.21
benign
NM_000185.4(SERPIND1):c.132G>A (p.Gln44=) single nucleotide variant not provided [RCV000997867] Chr22:20779444 [GRCh38]
Chr22:21133732 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.5676+4A>G single nucleotide variant not provided [RCV000958173] Chr22:20712689 [GRCh38]
Chr22:21066977 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.4380C>T (p.Ser1460=) single nucleotide variant not provided [RCV000958174] Chr22:20729920 [GRCh38]
Chr22:21084208 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.5595C>T (p.Ile1865=) single nucleotide variant not provided [RCV000889865] Chr22:20712774 [GRCh38]
Chr22:21067062 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.3244-215dup duplication not provided [RCV001718407] Chr22:20747909..20747910 [GRCh38]
Chr22:21102197..21102198 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.2791+49G>T single nucleotide variant not provided [RCV001597887] Chr22:20761255 [GRCh38]
Chr22:21115543 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.5677-37G>A single nucleotide variant Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001788699]|not provided [RCV001657322]|not specified [RCV003487620] Chr22:20712648 [GRCh38]
Chr22:21066936 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.4160+263C>T single nucleotide variant not provided [RCV001621536] Chr22:20733473 [GRCh38]
Chr22:21087761 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.1687G>T (p.Glu563Ter) single nucleotide variant PI4KA-related disorder [RCV004529148] Chr22:20802010 [GRCh38]
Chr22:21156298 [GRCh37]
Chr22:22q11.21
likely pathogenic
GRCh37/hg19 22q11.21(chr22:19647905-21153690)x1 copy number loss not provided [RCV002472681] Chr22:19647905..21153690 [GRCh37]
Chr22:22q11.21
pathogenic
NM_058004.4(PI4KA):c.1168+86C>G single nucleotide variant not provided [RCV001636213] Chr22:20807276 [GRCh38]
Chr22:21161564 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.2277+94A>G single nucleotide variant not provided [RCV001636233]|not specified [RCV003487564] Chr22:20796052 [GRCh38]
Chr22:21150340 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.1461+158_1461+159insGTG insertion not provided [RCV001689393] Chr22:20804141..20804142 [GRCh38]
Chr22:21158429..21158430 [GRCh37]
Chr22:22q11.21
benign
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(chr22:21188487-21804597)x1 copy number loss not provided [RCV002473928] Chr22:21188487..21804597 [GRCh37]
Chr22:22q11.21
likely pathogenic
GRCh37/hg19 22q11.21(chr22:21022257-21302080)x3 copy number gain not provided [RCV001007170] Chr22:21022257..21302080 [GRCh37]
Chr22:22q11.21
uncertain significance
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
NM_058004.4(PI4KA):c.1821-26G>A single nucleotide variant Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001788775]|not provided [RCV001687560]|not specified [RCV003487694] Chr22:20799302 [GRCh38]
Chr22:21153590 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.5676+39C>A single nucleotide variant Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001788698]|not provided [RCV001657231] Chr22:20712654 [GRCh38]
Chr22:21066942 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.1725-228G>T single nucleotide variant not provided [RCV001619498] Chr22:20799994 [GRCh38]
Chr22:21154282 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.5461+87T>C single nucleotide variant not provided [RCV001597561] Chr22:20714371 [GRCh38]
Chr22:21068659 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.1820+190dup duplication not provided [RCV001620057] Chr22:20799479..20799480 [GRCh38]
Chr22:21153767..21153768 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.5787T>C (p.Thr1929=) single nucleotide variant Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001788584]|not provided [RCV001536788]|not specified [RCV003487438] Chr22:20712501 [GRCh38]
Chr22:21066789 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.157-272C>T single nucleotide variant not provided [RCV001717945] Chr22:20839003 [GRCh38]
Chr22:21193291 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.156+142C>T single nucleotide variant not provided [RCV001685226] Chr22:20858428 [GRCh38]
Chr22:21212716 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.2328+188T>C single nucleotide variant not provided [RCV001595981] Chr22:20793005 [GRCh38]
Chr22:21147293 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.6173+139G>A single nucleotide variant not provided [RCV001676174] Chr22:20709769 [GRCh38]
Chr22:21064057 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.3153+225C>T single nucleotide variant not provided [RCV001677585] Chr22:20751068 [GRCh38]
Chr22:21105356 [GRCh37]
Chr22:22q11.21
benign
NM_004782.4(SNAP29):c.-19C>T single nucleotide variant CEDNIK syndrome [RCV000282177]|not provided [RCV001672608]|not specified [RCV000433662] Chr22:20859092 [GRCh38]
Chr22:21213380 [GRCh37]
Chr22:22q11.21
benign|no classifications from unflagged records
NM_058004.4(PI4KA):c.1591+287G>A single nucleotide variant not provided [RCV001696553] Chr22:20802904 [GRCh38]
Chr22:21157192 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.156+202A>G single nucleotide variant not provided [RCV001657575] Chr22:20858368 [GRCh38]
Chr22:21212656 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.456+150C>T single nucleotide variant not provided [RCV001678531] Chr22:20824176 [GRCh38]
Chr22:21178464 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.2708+285G>A single nucleotide variant not provided [RCV001661214] Chr22:20764532 [GRCh38]
Chr22:21118820 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.5116+49T>G single nucleotide variant Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001788797]|not provided [RCV001693744]|not specified [RCV003487721] Chr22:20721249 [GRCh38]
Chr22:21075537 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.157-173G>A single nucleotide variant not provided [RCV001654042] Chr22:20838904 [GRCh38]
Chr22:21193192 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.6258-180C>T single nucleotide variant not provided [RCV001676772] Chr22:20708278 [GRCh38]
Chr22:21062566 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.5462-128G>C single nucleotide variant not provided [RCV001676980] Chr22:20713518 [GRCh38]
Chr22:21067806 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.1361-191A>T single nucleotide variant not provided [RCV001715794] Chr22:20804591 [GRCh38]
Chr22:21158879 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.367+118G>T single nucleotide variant not provided [RCV001678276] Chr22:20834444 [GRCh38]
Chr22:21188732 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.5391-34A>C single nucleotide variant Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001788646]|not provided [RCV001638322] Chr22:20714562 [GRCh38]
Chr22:21068850 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.4053-15G>C single nucleotide variant Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001788595]|not provided [RCV001598913]|not specified [RCV003487499] Chr22:20733858 [GRCh38]
Chr22:21088146 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.6258-293C>T single nucleotide variant not provided [RCV001595362] Chr22:20708391 [GRCh38]
Chr22:21062679 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.2329-14T>A single nucleotide variant Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001788678]|not provided [RCV001656565] Chr22:20765707 [GRCh38]
Chr22:21119995 [GRCh37]
Chr22:22q11.21
benign
Single allele deletion Inherited Immunodeficiency Diseases [RCV001027643] Chr22:18789965..21591197 [GRCh37]
Chr22:22q11.21
likely pathogenic
GRCh37/hg19 22q11.21(chr22:18886915-21463730)x1 copy number loss See cases [RCV001194533] Chr22:18886915..21463730 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16888899-27657507)x3 copy number gain not provided [RCV001007163] Chr22:16888899..27657507 [GRCh37]
Chr22:22q11.1-12.1
pathogenic
GRCh37/hg19 22q11.21(chr22:18844632-21797812)x1 copy number loss See cases [RCV001194550] Chr22:18844632..21797812 [GRCh37]
Chr22:22q11.21
pathogenic
NM_000185.4(SERPIND1):c.240G>A (p.Leu80=) single nucleotide variant not provided [RCV001092751] Chr22:20779552 [GRCh38]
Chr22:21133840 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.457-282G>C single nucleotide variant not provided [RCV001666803] Chr22:20820893 [GRCh38]
Chr22:21175181 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.5481C>T (p.Asp1827=) single nucleotide variant not provided [RCV001684137] Chr22:20713371 [GRCh38]
Chr22:21067659 [GRCh37]
Chr22:22q11.21
benign
Single allele deletion DiGeorge syndrome [RCV001003853] Chr22:18475385..23764120 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
NM_058004.4(PI4KA):c.1461+157del deletion not provided [RCV001714751] Chr22:20804143 [GRCh38]
Chr22:21158431 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.5679C>T (p.Cys1893=) single nucleotide variant Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001788816]|not provided [RCV001709794] Chr22:20712609 [GRCh38]
Chr22:21066897 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.2792-236C>T single nucleotide variant not provided [RCV001644121] Chr22:20753416 [GRCh38]
Chr22:21107704 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.4161-242G>A single nucleotide variant not provided [RCV001609190] Chr22:20733340 [GRCh38]
Chr22:21087628 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.*67C>A single nucleotide variant not provided [RCV001667315] Chr22:20707980 [GRCh38]
Chr22:21062268 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.5117-12C>T single nucleotide variant Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001788730]|not provided [RCV001667370]|not specified [RCV003487653] Chr22:20718834 [GRCh38]
Chr22:21073122 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.2108+304G>A single nucleotide variant not provided [RCV001685334] Chr22:20798280 [GRCh38]
Chr22:21152568 [GRCh37]
Chr22:22q11.21
benign
GRCh37/hg19 22q11.21(chr22:21059669-21202765)x3 copy number gain not provided [RCV001007173] Chr22:21059669..21202765 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.864C>T (p.Cys288=) single nucleotide variant Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001788628]|not provided [RCV001609825]|not specified [RCV003487536] Chr22:20813499 [GRCh38]
Chr22:21167787 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.3457-292C>T single nucleotide variant not provided [RCV001709066] Chr22:20743056 [GRCh38]
Chr22:21097344 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.2988-98A>G single nucleotide variant not provided [RCV001612683] Chr22:20751853 [GRCh38]
Chr22:21106141 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.5462-301G>C single nucleotide variant not provided [RCV001643263] Chr22:20713691 [GRCh38]
Chr22:21067979 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.6084-71T>G single nucleotide variant not provided [RCV001679437]|not specified [RCV003487692] Chr22:20710068 [GRCh38]
Chr22:21064356 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.1839C>A (p.Pro613=) single nucleotide variant not provided [RCV001531369] Chr22:20799258 [GRCh38]
Chr22:21153546 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.5246+325T>C single nucleotide variant not provided [RCV001693057] Chr22:20718368 [GRCh38]
Chr22:21072656 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.6173+200G>A single nucleotide variant not provided [RCV001710155] Chr22:20709708 [GRCh38]
Chr22:21063996 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.3457-188dup duplication not provided [RCV001670095] Chr22:20742939..20742940 [GRCh38]
Chr22:21097227..21097228 [GRCh37]
Chr22:22q11.21
benign
GRCh37/hg19 22q11.21(chr22:21069073-21463730)x1 copy number loss See cases [RCV001194549] Chr22:21069073..21463730 [GRCh37]
Chr22:22q11.21
likely pathogenic
GRCh37/hg19 22q11.1-11.22(chr22:16888899-22290476)x3 copy number gain not provided [RCV001007162] Chr22:16888899..22290476 [GRCh37]
Chr22:22q11.1-11.22
pathogenic
NM_000185.4(SERPIND1):c.220dup (p.Glu74fs) duplication Heparin cofactor II deficiency [RCV001195743] Chr22:20779527..20779528 [GRCh38]
Chr22:21133815..21133816 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.5512G>A (p.Asp1838Asn) single nucleotide variant Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001007769] Chr22:20713340 [GRCh38]
Chr22:21067628 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.5645T>C (p.Phe1882Ser) single nucleotide variant Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001007770] Chr22:20712724 [GRCh38]
Chr22:21067012 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:18916842-21075592)x1 copy number loss not provided [RCV001007166] Chr22:18916842..21075592 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:20732808-25193541)x3 copy number gain not provided [RCV001007169] Chr22:20732808..25193541 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
NM_000185.4(SERPIND1):c.588G>A (p.Thr196=) single nucleotide variant not provided [RCV001200447] Chr22:20779900 [GRCh38]
Chr22:21134188 [GRCh37]
Chr22:22q11.21
likely benign
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(chr22:18889693-21465485)x1 copy number loss not provided [RCV001537920] Chr22:18889693..21465485 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18889977-21463189)x3 copy number gain not provided [RCV001537921] Chr22:18889977..21463189 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18889571-21464697)x1 copy number loss not provided [RCV001537922] Chr22:18889571..21464697 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18628147-21722313)x3 copy number gain See cases [RCV001263041] Chr22:18628147..21722313 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:21049799-21153690)x3 copy number gain not provided [RCV001259977] Chr22:21049799..21153690 [GRCh37]
Chr22:22q11.21
likely benign
GRCh37/hg19 22q11.21(chr22:21067691-21129559)x1 copy number loss not provided [RCV001259981] Chr22:21067691..21129559 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:20818353-21465659)x3 copy number gain not provided [RCV001259983] Chr22:20818353..21465659 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:18661699-21457610)x1 copy number loss See cases [RCV001263054] Chr22:18661699..21457610 [GRCh37]
Chr22:22q11.21
pathogenic
Single allele deletion Chromosome 22q11.2 deletion syndrome, distal [RCV003232577] Chr22:18985739..21081116 [GRCh38]
Chr22:22q11.21
pathogenic
Single allele duplication Chromosome 22q11.2 microduplication syndrome [RCV003232578] Chr22:18985739..21081116 [GRCh38]
Chr22:22q11.21
pathogenic
NM_058004.4(PI4KA):c.6016_6017dup (p.Lys2007fs) duplication Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001331588] Chr22:20710764..20710765 [GRCh38]
Chr22:21065052..21065053 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18765102-21661435)x1 copy number loss See cases [RCV001263047] Chr22:18765102..21661435 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21465659)x4 copy number gain not provided [RCV001259979] Chr22:18648866..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:19035089-22672555)x3 copy number gain not provided [RCV001259984] Chr22:19035089..22672555 [GRCh37]
Chr22:22q11.21-11.22
pathogenic
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(chr22:18893344-21650280) copy number loss DiGeorge syndrome [RCV002280732] Chr22:18893344..21650280 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18909044-21464119) copy number gain Cryptorchidism [RCV001291958] Chr22:18909044..21464119 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:21081284-21457610)x1 copy number loss See cases [RCV001263046] Chr22:21081284..21457610 [GRCh37]
Chr22:22q11.21
likely pathogenic
NM_058004.4(PI4KA):c.1076A>G (p.Asn359Ser) single nucleotide variant Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001331585] Chr22:20807454 [GRCh38]
Chr22:21161742 [GRCh37]
Chr22:22q11.21
uncertain significance
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
NM_058004.4(PI4KA):c.5924-139T>C single nucleotide variant not provided [RCV001527997] Chr22:20710997 [GRCh38]
Chr22:21065285 [GRCh37]
Chr22:22q11.21
benign
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(chr22:20754407-21457610)x1 copy number loss See cases [RCV001263048] Chr22:20754407..21457610 [GRCh37]
Chr22:22q11.21
likely pathogenic
NM_058004.4(PI4KA):c.501G>T (p.Met167Ile) single nucleotide variant Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001331586] Chr22:20820567 [GRCh38]
Chr22:21174855 [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
NM_000185.4(SERPIND1):c.890-1G>A single nucleotide variant Heparin cofactor II deficiency [RCV001334295] Chr22:20783971 [GRCh38]
Chr22:21138259 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18886915-21461017)x3 copy number gain Epilepsy [RCV001293650] Chr22:18886915..21461017 [GRCh37]
Chr22:22q11.21
pathogenic
NM_058004.4(PI4KA):c.3275C>A (p.Ser1092Ter) single nucleotide variant Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001336863] Chr22:20747671 [GRCh38]
Chr22:21101959 [GRCh37]
Chr22:22q11.21
pathogenic
NM_058004.4(PI4KA):c.2684C>T (p.Ser895Phe) single nucleotide variant Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001335318] Chr22:20764841 [GRCh38]
Chr22:21119129 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:18894835-21464119) copy number gain Global developmental delay [RCV001291954] Chr22:18894835..21464119 [GRCh37]
Chr22:22q11.21
pathogenic
Single allele deletion DiGeorge syndrome [RCV001391675] Chr22:18893882..21563420 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:21075575-21454721) copy number loss Hydronephrosis [RCV001291976] Chr22:21075575..21454721 [GRCh37]
Chr22:22q11.21
likely pathogenic
Single allele deletion DiGeorge syndrome [RCV001391672] Chr22:18893882..21571027 [GRCh37]
Chr22:22q11.21
pathogenic
NM_058004.4(PI4KA):c.2109-102G>C single nucleotide variant not provided [RCV001537040] Chr22:20796416 [GRCh38]
Chr22:21150704 [GRCh37]
Chr22:22q11.21
benign
GRCh37/hg19 22q11.21(chr22:18841374-21465101)x3 copy number gain not provided [RCV001537919] Chr22:18841374..21465101 [GRCh37]
Chr22:22q11.21
pathogenic
NM_058004.4(PI4KA):c.3153+238A>G single nucleotide variant not provided [RCV001536768] Chr22:20751055 [GRCh38]
Chr22:21105343 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.3363+219del deletion not provided [RCV001688276] Chr22:20747364 [GRCh38]
Chr22:21101652 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.530-168T>C single nucleotide variant not provided [RCV001530875] Chr22:20820068 [GRCh38]
Chr22:21174356 [GRCh37]
Chr22:22q11.21
benign
NM_000185.4(SERPIND1):c.285C>T (p.Ile95=) single nucleotide variant SERPIND1-related disorder [RCV003931273]|not provided [RCV001684020] Chr22:20779597 [GRCh38]
Chr22:21133885 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.5803-183T>A single nucleotide variant not provided [RCV001675424] Chr22:20711644 [GRCh38]
Chr22:21065932 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.2278-62dup duplication not provided [RCV001541345] Chr22:20793293..20793294 [GRCh38]
Chr22:21147581..21147582 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.6084-102G>A single nucleotide variant not provided [RCV001725484] Chr22:20710099 [GRCh38]
Chr22:21064387 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.5462-347G>T single nucleotide variant not provided [RCV001651532] Chr22:20713737 [GRCh38]
Chr22:21068025 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.4995+53dup duplication not provided [RCV001710331]|not specified [RCV003487736] Chr22:20726433..20726434 [GRCh38]
Chr22:21080721..21080722 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.1461+155T>G single nucleotide variant not provided [RCV001617347] Chr22:20804145 [GRCh38]
Chr22:21158433 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.2328+6181A>G single nucleotide variant not provided [RCV001669377] Chr22:20787012 [GRCh38]
Chr22:21141300 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.2278-51del deletion not provided [RCV001654703] Chr22:20793294 [GRCh38]
Chr22:21147582 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.2004+103G>A single nucleotide variant not provided [RCV001687691] Chr22:20798990 [GRCh38]
Chr22:21153278 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.5802+272A>G single nucleotide variant not provided [RCV001683773] Chr22:20712214 [GRCh38]
Chr22:21066502 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.530-124G>T single nucleotide variant not provided [RCV001710235] Chr22:20820024 [GRCh38]
Chr22:21174312 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.5677-31A>G single nucleotide variant Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001788814]|not provided [RCV001696425]|not specified [RCV003487726] Chr22:20712642 [GRCh38]
Chr22:21066930 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.456+130G>C single nucleotide variant not provided [RCV001716796] Chr22:20824196 [GRCh38]
Chr22:21178484 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.5803-241T>A single nucleotide variant not provided [RCV001537251] Chr22:20711702 [GRCh38]
Chr22:21065990 [GRCh37]
Chr22:22q11.21
benign
GRCh37/hg19 22q11.21(chr22:18889969-21462658)x1 copy number loss See cases [RCV001526484] Chr22:18889969..21462658 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:20737912-21465659)x3 copy number gain See cases [RCV001526487] Chr22:20737912..21465659 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_000185.4(SERPIND1):c.1070T>C (p.Ile357Thr) single nucleotide variant not provided [RCV001756430] Chr22:20784152 [GRCh38]
Chr22:21138440 [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(chr22:21059670-21217876)x3 copy number gain not provided [RCV001833080] Chr22:21059670..21217876 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:21059670-21465659)x3 copy number gain not provided [RCV001834182] Chr22:21059670..21465659 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.3109G>A (p.Ala1037Thr) single nucleotide variant Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV002273037]|not provided [RCV003319511] Chr22:20751337 [GRCh38]
Chr22:21105625 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.-47G>C single nucleotide variant not provided [RCV001769948] Chr22:20858772 [GRCh38]
Chr22:21213060 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.*167G>A single nucleotide variant not provided [RCV001776562] Chr22:20707880 [GRCh38]
Chr22:21062168 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.3454G>A (p.Glu1152Lys) single nucleotide variant Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001785409]|not provided [RCV002074080] Chr22:20744630 [GRCh38]
Chr22:21098918 [GRCh37]
Chr22:22q11.21
pathogenic|likely pathogenic
NM_058004.4(PI4KA):c.3592G>A (p.Ala1198Thr) single nucleotide variant Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001785410] Chr22:20742629 [GRCh38]
Chr22:21096917 [GRCh37]
Chr22:22q11.21
pathogenic
NM_058004.4(PI4KA):c.6156_6159del (p.Thr2053fs) deletion Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001785411]|Spastic paraplegia 84, autosomal recessive [RCV001785412]|not provided [RCV002541233] Chr22:20709922..20709925 [GRCh38]
Chr22:21064210..21064213 [GRCh37]
Chr22:22q11.21
pathogenic
NM_058004.4(PI4KA):c.4666G>A (p.Val1556Met) single nucleotide variant Spastic paraplegia 84, autosomal recessive [RCV001785414]|not provided [RCV004591566]|not specified [RCV003479351] Chr22:20729329 [GRCh38]
Chr22:21083617 [GRCh37]
Chr22:22q11.21
pathogenic|uncertain significance
NM_058004.4(PI4KA):c.5897A>C (p.Asp1966Ala) single nucleotide variant Inborn genetic diseases [RCV003295470] Chr22:20711367 [GRCh38]
Chr22:21065655 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:19036286-21208284)x1 copy number loss Schizophrenia [RCV001801223] Chr22:19036286..21208284 [GRCh37]
Chr22:22q11.21
pathogenic
NM_058004.4(PI4KA):c.2624dup (p.Pro876fs) duplication Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001785408] Chr22:20764900..20764901 [GRCh38]
Chr22:21119188..21119189 [GRCh37]
Chr22:22q11.21
pathogenic
NM_058004.4(PI4KA):c.5456AAG[1] (p.Glu1820del) microsatellite Spastic paraplegia 84, autosomal recessive [RCV001785413] Chr22:20714458..20714460 [GRCh38]
Chr22:21068746..21068748 [GRCh37]
Chr22:22q11.21
pathogenic
NM_058004.4(PI4KA):c.5159C>T (p.Thr1720Ile) single nucleotide variant Spastic paraplegia 84, autosomal recessive [RCV001785415] Chr22:20718780 [GRCh38]
Chr22:21073068 [GRCh37]
Chr22:22q11.21
pathogenic
NM_058004.4(PI4KA):c.1815C>T (p.Ser605=) single nucleotide variant not provided [RCV001753044] Chr22:20799676 [GRCh38]
Chr22:21153964 [GRCh37]
Chr22:22q11.21
likely benign
NC_000022.10:g.18861209_21630630del deletion Megacolon [RCV001290034] Chr22:18861209..21630630 [GRCh37]
Chr22:22q11.21
likely pathogenic
NM_058004.4(PI4KA):c.2064C>T (p.Ser688=) single nucleotide variant not provided [RCV001816317] Chr22:20798628 [GRCh38]
Chr22:21152916 [GRCh37]
Chr22:22q11.21
likely benign
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
NM_058004.4(PI4KA):c.803G>A (p.Arg268His) single nucleotide variant Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001809267] Chr22:20818536 [GRCh38]
Chr22:21172824 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:18873001-21469900) copy number gain Cerebral palsy [RCV001796564] Chr22:18873001..21469900 [GRCh37]
Chr22:22q11.21
pathogenic
NM_058004.4(PI4KA):c.5924-221C>T single nucleotide variant not provided [RCV001774948] Chr22:20711079 [GRCh38]
Chr22:21065367 [GRCh37]
Chr22:22q11.21
likely benign
NM_000185.4(SERPIND1):c.635G>A (p.Arg212Lys) single nucleotide variant not provided [RCV001815912] Chr22:20779947 [GRCh38]
Chr22:21134235 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:20732808-21465659) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV002280734] Chr22:20732808..21465659 [GRCh37]
Chr22:22q11.21
likely pathogenic
GRCh37/hg19 22q11.21(chr22:18916827-21804886) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV002280737] Chr22:18916827..21804886 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21798907) copy number loss DiGeorge syndrome [RCV002280728] Chr22:18644790..21798907 [GRCh37]
Chr22:22q11.21
pathogenic
NM_058004.4(PI4KA):c.4867T>G (p.Tyr1623Asp) single nucleotide variant Gastrointestinal defects and immunodeficiency syndrome 2 [RCV001822068] Chr22:20727304 [GRCh38]
Chr22:21081592 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:21059669-21804716)x1 copy number loss not provided [RCV001827632] Chr22:21059669..21804716 [GRCh37]
Chr22:22q11.21
likely pathogenic
GRCh37/hg19 22q11.21(chr22:20728957-21915096)x1 copy number loss not provided [RCV001827860] Chr22:20728957..21915096 [GRCh37]
Chr22:22q11.21
pathogenic
NM_058004.4(PI4KA):c.2330T>C (p.Leu777Pro) single nucleotide variant Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001822071] Chr22:20765692 [GRCh38]
Chr22:21119980 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:21033398-21465659)x3 copy number gain not provided [RCV001827815] Chr22:21033398..21465659 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:20717655-21465662)x3 copy number gain not provided [RCV001827891] Chr22:20717655..21465662 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.574C>T (p.Arg192Ter) single nucleotide variant Spastic paraplegia 84, autosomal recessive [RCV004799709] Chr22:20819856 [GRCh38]
Chr22:21174144 [GRCh37]
Chr22:22q11.21
likely pathogenic
NM_058004.4(PI4KA):c.5774G>A (p.Gly1925Glu) single nucleotide variant Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001822069] Chr22:20712514 [GRCh38]
Chr22:21066802 [GRCh37]
Chr22:22q11.21
pathogenic
NM_058004.4(PI4KA):c.3571C>T (p.Gln1191Ter) single nucleotide variant Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001822072] Chr22:20742650 [GRCh38]
Chr22:21096938 [GRCh37]
Chr22:22q11.21
pathogenic
NM_058004.4(PI4KA):c.6065del (p.Arg2022fs) deletion Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001822070] Chr22:20710717 [GRCh38]
Chr22:21065005 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21798907) copy number loss DiGeorge syndrome [RCV002280729] Chr22:18916842..21798907 [GRCh37]
Chr22:22q11.21
pathogenic
NC_000022.10:g.(?_18900688)_(21351637_?)dup duplication DiGeorge syndrome [RCV001952526] Chr22:18900688..21351637 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.2955G>A (p.Val985=) single nucleotide variant not provided [RCV002214244] Chr22:20752935 [GRCh38]
Chr22:21107223 [GRCh37]
Chr22:22q11.21
likely benign
NM_000185.4(SERPIND1):c.749T>C (p.Ile250Thr) single nucleotide variant not provided [RCV002214245] Chr22:20780061 [GRCh38]
Chr22:21134349 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.5974C>T (p.Pro1992Ser) single nucleotide variant Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV002285183]|not provided [RCV002214243] Chr22:20710808 [GRCh38]
Chr22:21065096 [GRCh37]
Chr22:22q11.21
likely pathogenic
NM_000185.4(SERPIND1):c.488G>C (p.Gly163Ala) single nucleotide variant Heparin cofactor II deficiency [RCV002245365] Chr22:20779800 [GRCh38]
Chr22:21134088 [GRCh37]
Chr22:22q11.21
uncertain significance
Single allele deletion Velocardiofacial syndrome [RCV002247726] Chr22:18948677..21110520 [GRCh38]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18884514-21484289)x1 copy number loss See cases [RCV002246175] Chr22:18884514..21484289 [GRCh37]
Chr22:22q11.21
pathogenic
NM_058004.4(PI4KA):c.1852C>T (p.Arg618Ter) single nucleotide variant PI4KA-related disorder [RCV004533974]|Phenylketonuria [RCV003164309]|Spastic paraplegia 84, autosomal recessive [RCV002221703]   likely pathogenic|uncertain significance
NM_000185.4(SERPIND1):c.700C>T (p.Leu234Phe) single nucleotide variant Heparin cofactor II deficiency [RCV002222279] Chr22:20780012 [GRCh38]
Chr22:21134300 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_000185.4(SERPIND1):c.161T>G (p.Leu54Arg) single nucleotide variant Heparin cofactor II deficiency [RCV002222137] Chr22:20779473 [GRCh38]
Chr22:21133761 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_000185.4(SERPIND1):c.466G>T (p.Val156Phe) single nucleotide variant not provided [RCV004790862] Chr22:20779778 [GRCh38]
Chr22:21134066 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.4598T>G (p.Ile1533Ser) single nucleotide variant not provided [RCV003156506] Chr22:20729397 [GRCh38]
Chr22:21083685 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.742G>T (p.Glu248Ter) single nucleotide variant not provided [RCV003152076] Chr22:20819688 [GRCh38]
Chr22:21173976 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.5116C>G (p.Pro1706Ala) single nucleotide variant Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV003148142]|not provided [RCV003225267] Chr22:20721298 [GRCh38]
Chr22:21075586 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.2797A>G (p.Met933Val) single nucleotide variant Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV002273110] Chr22:20753175 [GRCh38]
Chr22:21107463 [GRCh37]
Chr22:22q11.21
uncertain significance
NC_000022.11:g.18948676_21110520del deletion Velocardiofacial syndrome [RCV003318485] Chr22:18948676..21110520 [GRCh38]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18718028-21326012)x1 copy number loss See cases [RCV002246178] Chr22:18718028..21326012 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18893888-21414817)x3 copy number gain not provided [RCV002293073] Chr22:18893888..21414817 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21798907) copy number loss DiGeorge syndrome [RCV002280731] Chr22:18648866..21798907 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18917047-21465659) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV002280735] Chr22:18917047..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-21915509) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV002280738] Chr22:16888899..21915509 [GRCh37]
Chr22:22q11.1-11.21
pathogenic
NM_000185.4(SERPIND1):c.941G>A (p.Arg314Gln) single nucleotide variant not provided [RCV002263286] Chr22:20784023 [GRCh38]
Chr22:21138311 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.4289-1269G>A single nucleotide variant not provided [RCV002291383] Chr22:20731280 [GRCh38]
Chr22:21085568 [GRCh37]
Chr22:22q11.21
uncertain significance
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_058004.4(PI4KA):c.911T>A (p.Ile304Asn) single nucleotide variant Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV002273096] Chr22:20813452 [GRCh38]
Chr22:21167740 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:20732808-21800471)x1 copy number loss See cases [RCV002287834] Chr22:20732808..21800471 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18644702-21467607)x1 copy number loss Syndromic anorectal malformation [RCV002286606] Chr22:18644702..21467607 [GRCh37]
Chr22:22q11.21
pathogenic
NM_058004.4(PI4KA):c.5818A>C (p.Ile1940Leu) single nucleotide variant not provided [RCV002293063] Chr22:20711446 [GRCh38]
Chr22:21065734 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:18718623-21563155)x1 copy number loss Syndromic anorectal malformation [RCV002286609] Chr22:18718623..21563155 [GRCh37]
Chr22:22q11.21
likely pathogenic
GRCh37/hg19 22q11.21(chr22:18644542-21465659)x1 copy number loss See cases [RCV002287573] Chr22:18644542..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:20725308-21465659)x1 copy number loss See cases [RCV002292208] Chr22:20725308..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
NM_058004.4(PI4KA):c.3781G>A (p.Glu1261Lys) single nucleotide variant not provided [RCV002293668] Chr22:20734514 [GRCh38]
Chr22:21088802 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.4532C>T (p.Ser1511Leu) single nucleotide variant not provided [RCV002293669] Chr22:20729463 [GRCh38]
Chr22:21083751 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.2751del (p.Cys918fs) deletion PI4KA-related disorder [RCV002291384] Chr22:20761344 [GRCh38]
Chr22:21115632 [GRCh37]
Chr22:22q11.21
likely pathogenic
GRCh37/hg19 22q11.21(chr22:20310410-21804886)x1 copy number loss See cases [RCV002286345] Chr22:20310410..21804886 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:20732808-21465659)x1 copy number loss See cases [RCV002287641] Chr22:20732808..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18645353-21800797) copy number loss DiGeorge syndrome [RCV002280727] Chr22:18645353..21800797 [GRCh37]
Chr22:22q11.21
pathogenic
NM_058004.4(PI4KA):c.5653C>T (p.Arg1885Cys) single nucleotide variant Spastic paraplegia 84, autosomal recessive [RCV002283765] Chr22:20712716 [GRCh38]
Chr22:21067004 [GRCh37]
Chr22:22q11.21
uncertain significance
Single allele duplication not provided [RCV002266809] Chr22:20697728..21129998 [GRCh38]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.5860C>G (p.Gln1954Glu) single nucleotide variant Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV002283624] Chr22:20711404 [GRCh38]
Chr22:21065692 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:21059670-21286988)x3 copy number gain not provided [RCV002473778] Chr22:21059670..21286988 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:18916843-21075592)x1 copy number loss not provided [RCV002474582] Chr22:18916843..21075592 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916843-21465659)x1 copy number loss not provided [RCV002474586] Chr22:18916843..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:20716877-21465659)x1 copy number loss not provided [RCV002474587] Chr22:20716877..21465659 [GRCh37]
Chr22:22q11.21
likely pathogenic
GRCh37/hg19 22q11.21(chr22:20980876-21129147)x3 copy number gain not provided [RCV002474652] Chr22:20980876..21129147 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:20728957-21798907)x1 copy number loss not provided [RCV002472521] Chr22:20728957..21798907 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916843-21800471)x1 copy number loss not provided [RCV002472532] Chr22:18916843..21800471 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:20728957-21800797)x1 copy number loss not provided [RCV002472554] Chr22:20728957..21800797 [GRCh37]
Chr22:22q11.21
likely pathogenic
GRCh37/hg19 22q11.21(chr22:18648867-21465659)x1 copy number loss not provided [RCV002472511] Chr22:18648867..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916843-21804563)x3 copy number gain not provided [RCV002472525] Chr22:18916843..21804563 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:21049800-21465662)x1 copy number loss not provided [RCV002474517] Chr22:21049800..21465662 [GRCh37]
Chr22:22q11.21
pathogenic
NM_000185.4(SERPIND1):c.1168C>T (p.Arg390Ter) single nucleotide variant not provided [RCV002469899] Chr22:20786008 [GRCh38]
Chr22:21140296 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:21062134-21465662)x3 copy number gain not provided [RCV002474713] Chr22:21062134..21465662 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:19336598-21208828)x1 copy number loss not provided [RCV002474524] Chr22:19336598..21208828 [GRCh37]
Chr22:22q11.21
pathogenic
NM_058004.4(PI4KA):c.5462-8G>A single nucleotide variant not specified [RCV002470143] Chr22:20713398 [GRCh38]
Chr22:21067686 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:20725318-21800797)x1 copy number loss not provided [RCV002474535] Chr22:20725318..21800797 [GRCh37]
Chr22:22q11.21
likely pathogenic
GRCh37/hg19 22q11.21(chr22:19046677-21465662)x1 copy number loss not provided [RCV002473738] Chr22:19046677..21465662 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:21103226-21260113)x1 copy number loss not provided [RCV002473703] Chr22:21103226..21260113 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21-11.22(chr22:21029656-22485776)x3 copy number gain not provided [RCV002473924] Chr22:21029656..22485776 [GRCh37]
Chr22:22q11.21-11.22
pathogenic
GRCh37/hg19 22q11.21(chr22:18916828-21800797)x1 copy number loss not provided [RCV002473925] Chr22:18916828..21800797 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18644543-21800797)x1 copy number loss not provided [RCV002473959] Chr22:18644543..21800797 [GRCh37]
Chr22:22q11.21
pathogenic
NM_058004.4(PI4KA):c.2041C>A (p.Gln681Lys) single nucleotide variant Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV002306449] Chr22:20798651 [GRCh38]
Chr22:21152939 [GRCh37]
Chr22:22q11.21
uncertain significance
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(chr22:20725309-21804563)x1 copy number loss not provided [RCV002472527] Chr22:20725309..21804563 [GRCh37]
Chr22:22q11.21
likely pathogenic
NM_058004.4(PI4KA):c.4901del (p.Thr1634fs) deletion Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV002306450] Chr22:20727270 [GRCh38]
Chr22:21081558 [GRCh37]
Chr22:22q11.21
likely pathogenic
NM_058004.4(PI4KA):c.3674A>G (p.His1225Arg) single nucleotide variant not provided [RCV002512047] Chr22:20742295 [GRCh38]
Chr22:21096583 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.1816G>T (p.Asp606Tyr) single nucleotide variant Inborn genetic diseases [RCV002902593] Chr22:20799675 [GRCh38]
Chr22:21153963 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:18834445-21414817)x1 copy number loss not provided [RCV002512210] Chr22:18834445..21414817 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18893888-21570386)x1 copy number loss not provided [RCV002512211] Chr22:18893888..21570386 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18894078-21414817)x1 copy number loss not provided [RCV002512212] Chr22:18894078..21414817 [GRCh37]
Chr22:22q11.21
pathogenic
NM_058004.4(PI4KA):c.638C>T (p.Pro213Leu) single nucleotide variant not provided [RCV002511502] Chr22:20819792 [GRCh38]
Chr22:21174080 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:19184000-21416024)x1 copy number loss not provided [RCV002512213] Chr22:19184000..21416024 [GRCh37]
Chr22:22q11.21
pathogenic
NM_058004.4(PI4KA):c.818C>G (p.Pro273Arg) single nucleotide variant not provided [RCV002511347] Chr22:20818521 [GRCh38]
Chr22:21172809 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.5929G>A (p.Gly1977Ser) single nucleotide variant Inborn genetic diseases [RCV002863916] Chr22:20710853 [GRCh38]
Chr22:21065141 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.5099A>G (p.Glu1700Gly) single nucleotide variant Inborn genetic diseases [RCV002910711] Chr22:20721315 [GRCh38]
Chr22:21075603 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.1230C>G (p.Ser410Arg) single nucleotide variant not provided [RCV002510203] Chr22:20805104 [GRCh38]
Chr22:21159392 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.5977G>A (p.Asp1993Asn) single nucleotide variant Inborn genetic diseases [RCV002924132]|not provided [RCV003434628] Chr22:20710805 [GRCh38]
Chr22:21065093 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.5647C>T (p.Pro1883Ser) single nucleotide variant Inborn genetic diseases [RCV002950859] Chr22:20712722 [GRCh38]
Chr22:21067010 [GRCh37]
Chr22:22q11.21
likely benign
NM_000185.4(SERPIND1):c.1207T>C (p.Tyr403His) single nucleotide variant not specified [RCV004097043] Chr22:20786047 [GRCh38]
Chr22:21140335 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.1117C>A (p.Leu373Ile) single nucleotide variant Inborn genetic diseases [RCV002888903] Chr22:20807413 [GRCh38]
Chr22:21161701 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.1078C>G (p.Pro360Ala) single nucleotide variant Inborn genetic diseases [RCV002886875] Chr22:20807452 [GRCh38]
Chr22:21161740 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.2369G>T (p.Arg790Leu) single nucleotide variant not provided [RCV003059840] Chr22:20765653 [GRCh38]
Chr22:21119941 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.4024C>T (p.His1342Tyr) single nucleotide variant Inborn genetic diseases [RCV002956299] Chr22:20734071 [GRCh38]
Chr22:21088359 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.1018G>A (p.Val340Ile) single nucleotide variant Inborn genetic diseases [RCV002850747] Chr22:20811020 [GRCh38]
Chr22:21165308 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_000185.4(SERPIND1):c.532C>T (p.His178Tyr) single nucleotide variant not specified [RCV004108347] Chr22:20779844 [GRCh38]
Chr22:21134132 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.2518C>T (p.Pro840Ser) single nucleotide variant Inborn genetic diseases [RCV002917093] Chr22:20765156 [GRCh38]
Chr22:21119444 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_000185.4(SERPIND1):c.1396C>G (p.Gln466Glu) single nucleotide variant not specified [RCV004115639] Chr22:20786962 [GRCh38]
Chr22:21141250 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:21119425-21431174)x3 copy number gain not provided [RCV002509022] Chr22:21119425..21431174 [GRCh37]
Chr22:22q11.21
not provided
NM_000185.4(SERPIND1):c.229G>A (p.Asp77Asn) single nucleotide variant not specified [RCV004168499] Chr22:20779541 [GRCh38]
Chr22:21133829 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_000185.4(SERPIND1):c.512G>A (p.Gly171Glu) single nucleotide variant not specified [RCV004105921] Chr22:20779824 [GRCh38]
Chr22:21134112 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.2147T>C (p.Ile716Thr) single nucleotide variant Inborn genetic diseases [RCV002983630] Chr22:20796276 [GRCh38]
Chr22:21150564 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.3871G>A (p.Glu1291Lys) single nucleotide variant Inborn genetic diseases [RCV002873296] Chr22:20734424 [GRCh38]
Chr22:21088712 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.4253A>G (p.Lys1418Arg) single nucleotide variant Inborn genetic diseases [RCV002764787] Chr22:20733006 [GRCh38]
Chr22:21087294 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.3960C>G (p.Phe1320Leu) single nucleotide variant Inborn genetic diseases [RCV002893599] Chr22:20734135 [GRCh38]
Chr22:21088423 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.2624del (p.Pro875fs) deletion not provided [RCV002582063] Chr22:20764901 [GRCh38]
Chr22:21119189 [GRCh37]
Chr22:22q11.21
pathogenic
NM_058004.4(PI4KA):c.3751G>A (p.Glu1251Lys) single nucleotide variant Inborn genetic diseases [RCV002718786] Chr22:20734544 [GRCh38]
Chr22:21088832 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.4327G>A (p.Gly1443Ser) single nucleotide variant Inborn genetic diseases [RCV002897034] Chr22:20729973 [GRCh38]
Chr22:21084261 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.5473C>T (p.Arg1825Cys) single nucleotide variant Inborn genetic diseases [RCV002831847] Chr22:20713379 [GRCh38]
Chr22:21067667 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_000185.4(SERPIND1):c.40A>G (p.Ile14Val) single nucleotide variant not specified [RCV004099430] Chr22:20779352 [GRCh38]
Chr22:21133640 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.4711G>A (p.Glu1571Lys) single nucleotide variant not provided [RCV003131911] Chr22:20727836 [GRCh38]
Chr22:21082124 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.1015A>G (p.Ile339Val) single nucleotide variant PI4KA-related disorder [RCV004540625]|not provided [RCV003149403] Chr22:20811023 [GRCh38]
Chr22:21165311 [GRCh37]
Chr22:22q11.21
benign|likely benign
NM_058004.4(PI4KA):c.2633T>C (p.Val878Ala) single nucleotide variant not provided [RCV003225449] Chr22:20764892 [GRCh38]
Chr22:21119180 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.4990G>A (p.Asp1664Asn) single nucleotide variant Phenylketonuria [RCV003219210] Chr22:20726493 [GRCh38]
Chr22:21080781 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.3733G>A (p.Glu1245Lys) single nucleotide variant Inborn genetic diseases [RCV003200232] Chr22:20742236 [GRCh38]
Chr22:21096524 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.2116T>A (p.Ser706Thr) single nucleotide variant not provided [RCV003223110] Chr22:20796307 [GRCh38]
Chr22:21150595 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.2315C>G (p.Pro772Arg) single nucleotide variant Inborn genetic diseases [RCV003184594] Chr22:20793206 [GRCh38]
Chr22:21147494 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_000185.4(SERPIND1):c.863T>C (p.Met288Thr) single nucleotide variant not specified [RCV004278103] Chr22:20780175 [GRCh38]
Chr22:21134463 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_000185.4(SERPIND1):c.622C>T (p.Arg208Cys) single nucleotide variant not specified [RCV004261465] Chr22:20779934 [GRCh38]
Chr22:21134222 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh38/hg38 22q11.21(chr22:20354589-21405291) copy number loss 22q11.2 central deletion syndrome [RCV003223565] Chr22:20354589..21405291 [GRCh38]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.2406C>T (p.Ser802=) single nucleotide variant not provided [RCV003134834] Chr22:20765616 [GRCh38]
Chr22:21119904 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.2893G>A (p.Glu965Lys) single nucleotide variant Inborn genetic diseases [RCV003260649] Chr22:20752997 [GRCh38]
Chr22:21107285 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.810G>A (p.Met270Ile) single nucleotide variant Inborn genetic diseases [RCV003197879] Chr22:20818529 [GRCh38]
Chr22:21172817 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.4765G>T (p.Ala1589Ser) single nucleotide variant not provided [RCV003319775] Chr22:20727782 [GRCh38]
Chr22:21082070 [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(chr22:20609932-21576553)x1 copy number loss Chromosome 22q11.2 deletion syndrome, distal [RCV003329503] Chr22:20609932..21576553 [GRCh37]
Chr22:22q11.21
pathogenic
NM_058004.4(PI4KA):c.5671C>T (p.Pro1891Ser) single nucleotide variant Inborn genetic diseases [RCV003349126] Chr22:20712698 [GRCh38]
Chr22:21066986 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.4796T>C (p.Ile1599Thr) single nucleotide variant Inborn genetic diseases [RCV003350414] Chr22:20727375 [GRCh38]
Chr22:21081663 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.4239C>T (p.Ala1413=) single nucleotide variant not provided [RCV003457098] Chr22:20733020 [GRCh38]
Chr22:21087308 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.4448A>C (p.Lys1483Thr) single nucleotide variant Inborn genetic diseases [RCV003384461] Chr22:20729672 [GRCh38]
Chr22:21083960 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.359A>G (p.Lys120Arg) single nucleotide variant Inborn genetic diseases [RCV003348527] Chr22:20834570 [GRCh38]
Chr22:21188858 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.4489G>A (p.Ala1497Thr) single nucleotide variant Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV003447767] Chr22:20729506 [GRCh38]
Chr22:21083794 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.1025A>G (p.Glu342Gly) single nucleotide variant Inborn genetic diseases [RCV003372194] Chr22:20811013 [GRCh38]
Chr22:21165301 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.3646T>C (p.Trp1216Arg) single nucleotide variant Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV003447768] Chr22:20742323 [GRCh38]
Chr22:21096611 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.4089T>C (p.Asp1363=) single nucleotide variant not provided [RCV003431654] Chr22:20733807 [GRCh38]
Chr22:21088095 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.5935A>G (p.Met1979Val) single nucleotide variant not provided [RCV003431647] Chr22:20710847 [GRCh38]
Chr22:21065135 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.2460C>T (p.Tyr820=) single nucleotide variant not provided [RCV003457345] Chr22:20765214 [GRCh38]
Chr22:21119502 [GRCh37]
Chr22:22q11.21
likely benign
NM_000185.4(SERPIND1):c.445G>A (p.Asp149Asn) single nucleotide variant not provided [RCV004810087] Chr22:20779757 [GRCh38]
Chr22:21134045 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.1185T>C (p.Phe395=) single nucleotide variant PI4KA-related disorder [RCV004540668]|not provided [RCV003437493] Chr22:20805149 [GRCh38]
Chr22:21159437 [GRCh37]
Chr22:22q11.21
likely benign
NM_000185.4(SERPIND1):c.18C>T (p.Asn6=) single nucleotide variant not provided [RCV003437491] Chr22:20779330 [GRCh38]
Chr22:21133618 [GRCh37]
Chr22:22q11.21
likely benign
NM_000185.4(SERPIND1):c.1107C>T (p.Leu369=) single nucleotide variant not provided [RCV003437492] Chr22:20784189 [GRCh38]
Chr22:21138477 [GRCh37]
Chr22:22q11.21
benign
NM_000185.4(SERPIND1):c.245T>C (p.Leu82Pro) single nucleotide variant not provided [RCV004790861] Chr22:20779557 [GRCh38]
Chr22:21133845 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.4580A>C (p.Asn1527Thr) single nucleotide variant not provided [RCV003431652] Chr22:20729415 [GRCh38]
Chr22:21083703 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_000185.4(SERPIND1):c.1395C>T (p.Thr465=) single nucleotide variant not provided [RCV003431655] Chr22:20786961 [GRCh38]
Chr22:21141249 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.3918dup (p.Glu1307Ter) duplication PI4KA-related disorder [RCV004528755] Chr22:20734176..20734177 [GRCh38]
Chr22:21088464..21088465 [GRCh37]
Chr22:22q11.21
likely pathogenic
GRCh37/hg19 22q11.21(chr22:18893888-21563415)x1 copy number loss not provided [RCV003457105] Chr22:18893888..21563415 [GRCh37]
Chr22:22q11.21
pathogenic
NM_000185.4(SERPIND1):c.1403G>A (p.Arg468His) single nucleotide variant not provided [RCV003431656] Chr22:20786969 [GRCh38]
Chr22:21141257 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.5772C>T (p.Tyr1924=) single nucleotide variant not provided [RCV003431648] Chr22:20712516 [GRCh38]
Chr22:21066804 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.4944C>T (p.Asp1648=) single nucleotide variant not provided [RCV003431650] Chr22:20726539 [GRCh38]
Chr22:21080827 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.4371C>G (p.Pro1457=) single nucleotide variant not provided [RCV003431653] Chr22:20729929 [GRCh38]
Chr22:21084217 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.1318G>A (p.Ala440Thr) single nucleotide variant not provided [RCV003443590] Chr22:20805016 [GRCh38]
Chr22:21159304 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.6142T>A (p.Cys2048Ser) single nucleotide variant PI4KA-related disorder [RCV004529258] Chr22:20709939 [GRCh38]
Chr22:21064227 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.221G>A (p.Arg74Gln) single nucleotide variant not provided [RCV003441446] Chr22:20838667 [GRCh38]
Chr22:21192955 [GRCh37]
Chr22:22q11.21
uncertain significance
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_058004.4(PI4KA):c.2236C>T (p.Arg746Ter) single nucleotide variant PI4KA-related disorder [RCV004534375] Chr22:20796187 [GRCh38]
Chr22:21150475 [GRCh37]
Chr22:22q11.21
likely pathogenic
NM_058004.4(PI4KA):c.5172C>G (p.Ser1724=) single nucleotide variant not provided [RCV003437489] Chr22:20718767 [GRCh38]
Chr22:21073055 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.4851A>G (p.Pro1617=) single nucleotide variant not provided [RCV003437490] Chr22:20727320 [GRCh38]
Chr22:21081608 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.168T>G (p.Leu56=) single nucleotide variant not provided [RCV003437494] Chr22:20838720 [GRCh38]
Chr22:21193008 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.2166C>T (p.Asp722=) single nucleotide variant not provided [RCV003457346] Chr22:20796257 [GRCh38]
Chr22:21150545 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.4839G>T (p.Ala1613=) single nucleotide variant not provided [RCV003431651] Chr22:20727332 [GRCh38]
Chr22:21081620 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.69C>T (p.Gly23=) single nucleotide variant not provided [RCV003431657] Chr22:20858657 [GRCh38]
Chr22:21212945 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.5097A>G (p.Glu1699=) single nucleotide variant not provided [RCV003431649] Chr22:20721317 [GRCh38]
Chr22:21075605 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.3900+1G>A single nucleotide variant not provided [RCV003691462] Chr22:20734394 [GRCh38]
Chr22:21088682 [GRCh37]
Chr22:22q11.21
likely pathogenic
NM_058004.4(PI4KA):c.5462-44C>T single nucleotide variant not specified [RCV003489030] Chr22:20713434 [GRCh38]
Chr22:21067722 [GRCh37]
Chr22:22q11.21
benign
NM_000185.4(SERPIND1):c.1471G>T (p.Gly491Ter) single nucleotide variant not provided [RCV004798331] Chr22:20787037 [GRCh38]
Chr22:21141325 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:21059669-21202879)x3 copy number gain not specified [RCV003986181] Chr22:21059669..21202879 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.4773+6G>A single nucleotide variant PI4KA-related disorder [RCV004532227] Chr22:20727768 [GRCh38]
Chr22:21082056 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.3126G>A (p.Thr1042=) single nucleotide variant PI4KA-related disorder [RCV004539191]|not provided [RCV003885151] Chr22:20751320 [GRCh38]
Chr22:21105608 [GRCh37]
Chr22:22q11.21
likely benign
GRCh37/hg19 22q11.21(chr22:18649190-21800471)x3 copy number gain not provided [RCV004442843] Chr22:18649190..21800471 [GRCh37]
Chr22:22q11.21
pathogenic
NM_058004.4(PI4KA):c.984G>A (p.Met328Ile) single nucleotide variant PI4KA-related disorder [RCV004545538] Chr22:20813379 [GRCh38]
Chr22:21167667 [GRCh37]
Chr22:22q11.21
likely benign
GRCh37/hg19 22q11.21(chr22:20730144-21464764)x1 copy number loss See cases [RCV004442797] Chr22:20730144..21464764 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_000185.4(SERPIND1):c.420G>C (p.Val140=) single nucleotide variant SERPIND1-related disorder [RCV003954937] Chr22:20779732 [GRCh38]
Chr22:21134020 [GRCh37]
Chr22:22q11.21
likely benign
GRCh37/hg19 22q11.21(chr22:18919478-21461017)x3 copy number gain not provided [RCV004442819] Chr22:18919478..21461017 [GRCh37]
Chr22:22q11.21
pathogenic
NM_058004.4(PI4KA):c.2005-4C>T single nucleotide variant PI4KA-related disorder [RCV004542322] Chr22:20798691 [GRCh38]
Chr22:21152979 [GRCh37]
Chr22:22q11.21
likely benign
GRCh37/hg19 22q11.21(chr22:18648856-21800471)x1 copy number loss See cases [RCV004442844] Chr22:18648856..21800471 [GRCh37]
Chr22:22q11.21
pathogenic
NM_000185.4(SERPIND1):c.973A>G (p.Met325Val) single nucleotide variant not provided [RCV003885060] Chr22:20784055 [GRCh38]
Chr22:21138343 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:20716877-21800471)x1 copy number loss not provided [RCV004442740] Chr22:20716877..21800471 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:20723686-21800471)x1 copy number loss not provided [RCV004442815] Chr22:20723686..21800471 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_000185.4(SERPIND1):c.1164-6G>T single nucleotide variant not provided [RCV003887070] Chr22:20785998 [GRCh38]
Chr22:21140286 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.712del (p.Leu238fs) deletion PI4KA-related disorder [RCV004539234] Chr22:20819718 [GRCh38]
Chr22:21174006 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.5031G>A (p.Ala1677=) single nucleotide variant PI4KA-related disorder [RCV004532022] Chr22:20721383 [GRCh38]
Chr22:21075671 [GRCh37]
Chr22:22q11.21
likely benign
NM_000185.4(SERPIND1):c.830C>T (p.Ala277Val) single nucleotide variant SERPIND1-related disorder [RCV003958970] Chr22:20780142 [GRCh38]
Chr22:21134430 [GRCh37]
Chr22:22q11.21
likely benign
NM_000185.4(SERPIND1):c.286G>A (p.Val96Ile) single nucleotide variant SERPIND1-related disorder [RCV003959175] Chr22:20779598 [GRCh38]
Chr22:21133886 [GRCh37]
Chr22:22q11.21
likely benign
NM_000185.4(SERPIND1):c.1325C>T (p.Thr442Met) single nucleotide variant SERPIND1-related disorder [RCV003903916] Chr22:20786891 [GRCh38]
Chr22:21141179 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.1791C>T (p.Asn597=) single nucleotide variant not provided [RCV003992877] Chr22:20799700 [GRCh38]
Chr22:21153988 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.9G>C (p.Ala3=) single nucleotide variant PI4KA-related disorder [RCV004545543] Chr22:20858717 [GRCh38]
Chr22:21213005 [GRCh37]
Chr22:22q11.21
likely benign
GRCh37/hg19 22q11.21(chr22:18919478-21927646)x3 copy number gain not provided [RCV004442756] Chr22:18919478..21927646 [GRCh37]
Chr22:22q11.21
pathogenic
NM_058004.4(PI4KA):c.2987+8C>T single nucleotide variant PI4KA-related disorder [RCV004540883] Chr22:20752895 [GRCh38]
Chr22:21107183 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.4995+3A>G single nucleotide variant PI4KA-related disorder [RCV004539426] Chr22:20726485 [GRCh38]
Chr22:21080773 [GRCh37]
Chr22:22q11.21
likely benign
GRCh37/hg19 22q11.21(chr22:21061979-21418457)x3 copy number gain not provided [RCV003885496] Chr22:21061979..21418457 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.4682+10C>T single nucleotide variant PI4KA-related disorder [RCV004537049] Chr22:20729303 [GRCh38]
Chr22:21083591 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.3294G>A (p.Thr1098=) single nucleotide variant PI4KA-related disorder [RCV004545693] Chr22:20747652 [GRCh38]
Chr22:21101940 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.3009C>T (p.Ser1003=) single nucleotide variant PI4KA-related disorder [RCV004539271] Chr22:20751734 [GRCh38]
Chr22:21106022 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.2970A>G (p.Leu990=) single nucleotide variant PI4KA-related disorder [RCV004543998] Chr22:20752920 [GRCh38]
Chr22:21107208 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.3153+8C>T single nucleotide variant PI4KA-related disorder [RCV004543972] Chr22:20751285 [GRCh38]
Chr22:21105573 [GRCh37]
Chr22:22q11.21
likely benign
NM_000185.4(SERPIND1):c.118C>T (p.Pro40Ser) single nucleotide variant SERPIND1-related disorder [RCV003931962] Chr22:20779430 [GRCh38]
Chr22:21133718 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.351A>G (p.Thr117=) single nucleotide variant PI4KA-related disorder [RCV004531887] Chr22:20834578 [GRCh38]
Chr22:21188866 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.789+9G>A single nucleotide variant PI4KA-related disorder [RCV004539318] Chr22:20819632 [GRCh38]
Chr22:21173920 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.4929G>C (p.Arg1643=) single nucleotide variant not provided [RCV004546358] Chr22:20727242 [GRCh38]
Chr22:21081530 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.3372G>A (p.Gln1124=) single nucleotide variant PI4KA-related disorder [RCV004540807] Chr22:20744712 [GRCh38]
Chr22:21099000 [GRCh37]
Chr22:22q11.21
likely benign
NM_000185.4(SERPIND1):c.999C>T (p.Leu333=) single nucleotide variant SERPIND1-related disorder [RCV003934274] Chr22:20784081 [GRCh38]
Chr22:21138369 [GRCh37]
Chr22:22q11.21
likely benign
NM_000185.4(SERPIND1):c.1441G>A (p.Glu481Lys) single nucleotide variant not provided [RCV003887753] Chr22:20787007 [GRCh38]
Chr22:21141295 [GRCh37]
Chr22:22q11.21
likely benign
NM_000185.4(SERPIND1):c.1338C>T (p.Asn446=) single nucleotide variant SERPIND1-related disorder [RCV003959425] Chr22:20786904 [GRCh38]
Chr22:21141192 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.1062T>C (p.Ser354=) single nucleotide variant PI4KA-related disorder [RCV004543933] Chr22:20810976 [GRCh38]
Chr22:21165264 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.274-3dup duplication PI4KA-related disorder [RCV004534668] Chr22:20834657..20834658 [GRCh38]
Chr22:21188945..21188946 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.786T>C (p.Ser262=) single nucleotide variant PI4KA-related disorder [RCV004531939] Chr22:20819644 [GRCh38]
Chr22:21173932 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.6216T>C (p.Asn2072=) single nucleotide variant not provided [RCV003887144] Chr22:20709337 [GRCh38]
Chr22:21063625 [GRCh37]
Chr22:22q11.21
likely benign
NM_000185.4(SERPIND1):c.465C>T (p.Pro155=) single nucleotide variant SERPIND1-related disorder [RCV003899389] Chr22:20779777 [GRCh38]
Chr22:21134065 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.870C>T (p.Pro290=) single nucleotide variant PI4KA-related disorder [RCV004534683] Chr22:20813493 [GRCh38]
Chr22:21167781 [GRCh37]
Chr22:22q11.21
benign
NM_058004.4(PI4KA):c.1820+6C>T single nucleotide variant PI4KA-related disorder [RCV004540852] Chr22:20799665 [GRCh38]
Chr22:21153953 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.2421C>T (p.Phe807=) single nucleotide variant PI4KA-related disorder [RCV004539299] Chr22:20765601 [GRCh38]
Chr22:21119889 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.3378C>T (p.Ser1126=) single nucleotide variant PI4KA-related disorder [RCV004539304] Chr22:20744706 [GRCh38]
Chr22:21098994 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.405G>A (p.Leu135=) single nucleotide variant PI4KA-related disorder [RCV004540754] Chr22:20824377 [GRCh38]
Chr22:21178665 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.210A>G (p.Leu70=) single nucleotide variant PI4KA-related disorder [RCV004531936] Chr22:20838678 [GRCh38]
Chr22:21192966 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.4539G>A (p.Pro1513=) single nucleotide variant PI4KA-related disorder [RCV004545483]|not provided [RCV004810643] Chr22:20729456 [GRCh38]
Chr22:21083744 [GRCh37]
Chr22:22q11.21
likely benign
NM_000185.4(SERPIND1):c.437A>T (p.Asn146Ile) single nucleotide variant not provided [RCV003992907] Chr22:20779749 [GRCh38]
Chr22:21134037 [GRCh37]
Chr22:22q11.21
likely benign
NM_000185.4(SERPIND1):c.1181T>C (p.Leu394Pro) single nucleotide variant not specified [RCV004453367] Chr22:20786021 [GRCh38]
Chr22:21140309 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_000185.4(SERPIND1):c.584T>C (p.Ile195Thr) single nucleotide variant not specified [RCV004453368] Chr22:20779896 [GRCh38]
Chr22:21134184 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:18888685-21465668)x1 copy number loss not provided [RCV004577450] Chr22:18888685..21465668 [GRCh37]
Chr22:22q11.21
pathogenic
NM_000185.4(SERPIND1):c.71C>T (p.Pro24Leu) single nucleotide variant not specified [RCV004453369] Chr22:20779383 [GRCh38]
Chr22:21133671 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.3757G>A (p.Ala1253Thr) single nucleotide variant Gastrointestinal defects and immunodeficiency syndrome 2 [RCV004577308] Chr22:20734538 [GRCh38]
Chr22:21088826 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:20730747-21465668)x3 copy number gain not provided [RCV004577451] Chr22:20730747..21465668 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:19016502-21464637)x1 copy number loss not provided [RCV004577504] Chr22:19016502..21464637 [GRCh37]
Chr22:22q11.21
pathogenic
NM_000185.4(SERPIND1):c.848C>G (p.Pro283Arg) single nucleotide variant not specified [RCV004453370] Chr22:20780160 [GRCh38]
Chr22:21134448 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_000185.4(SERPIND1):c.1412T>C (p.Val471Ala) single nucleotide variant not specified [RCV004666004] Chr22:20786978 [GRCh38]
Chr22:21141266 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.3999C>T (p.Gly1333=) single nucleotide variant not provided [RCV004575250] Chr22:20734096 [GRCh38]
Chr22:21088384 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.5484C>T (p.Ser1828=) single nucleotide variant not provided [RCV004575015] Chr22:20713368 [GRCh38]
Chr22:21067656 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.4552G>A (p.Asp1518Asn) single nucleotide variant Inborn genetic diseases [RCV004648115] Chr22:20729443 [GRCh38]
Chr22:21083731 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.3207G>A (p.Met1069Ile) single nucleotide variant Inborn genetic diseases [RCV004648116] Chr22:20749941 [GRCh38]
Chr22:21104229 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_000185.4(SERPIND1):c.1463T>C (p.Leu488Pro) single nucleotide variant not specified [RCV004666003] Chr22:20787029 [GRCh38]
Chr22:21141317 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_000185.4(SERPIND1):c.1135G>C (p.Glu379Gln) single nucleotide variant not provided [RCV004790863] Chr22:20784217 [GRCh38]
Chr22:21138505 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.4406C>T (p.Ser1469Leu) single nucleotide variant not provided [RCV004725781] Chr22:20729894 [GRCh38]
Chr22:21084182 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.24AGGCGG[2] (p.Gly15_Gly18del) microsatellite PI4KA-related disorder [RCV004736725] Chr22:20858679..20858690 [GRCh38]
Chr22:21212967..21212978 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.2717G>A (p.Arg906His) single nucleotide variant not provided [RCV004775895] Chr22:20761378 [GRCh38]
Chr22:21115666 [GRCh37]
Chr22:22q11.21
uncertain significance
NC_000022.10:g.(21062387_21063583)_(21063668_21064195)dup duplication not specified [RCV004771414] Chr22:21063583..21063668 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.2708+6C>T single nucleotide variant PI4KA-related disorder [RCV004737005] Chr22:20764811 [GRCh38]
Chr22:21119099 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.5316G>A (p.Pro1772=) single nucleotide variant not provided [RCV004722542] Chr22:20717709 [GRCh38]
Chr22:21071997 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.4026C>T (p.His1342=) single nucleotide variant not provided [RCV004722547] Chr22:20734069 [GRCh38]
Chr22:21088357 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.2575-8C>A single nucleotide variant PI4KA-related disorder [RCV004736964] Chr22:20764958 [GRCh38]
Chr22:21119246 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.2856G>A (p.Ala952=) single nucleotide variant PI4KA-related disorder [RCV004737779] Chr22:20753116 [GRCh38]
Chr22:21107404 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.3976C>T (p.Arg1326Cys) single nucleotide variant Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV004759575]   likely pathogenic
NM_058004.4(PI4KA):c.3868C>G (p.Pro1290Ala) single nucleotide variant Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV004759576]   uncertain significance
NM_058004.4(PI4KA):c.4427A>T (p.Asn1476Ile) single nucleotide variant not provided [RCV004773420] Chr22:20729693 [GRCh38]
Chr22:21083981 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.2818G>A (p.Ala940Thr) single nucleotide variant not provided [RCV004773421] Chr22:20753154 [GRCh38]
Chr22:21107442 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.36A>C (p.Gly12=) single nucleotide variant not provided [RCV004809077] Chr22:20858690 [GRCh38]
Chr22:21212978 [GRCh37]
Chr22:22q11.21
likely benign
NM_058004.4(PI4KA):c.735C>A (p.Val245=) single nucleotide variant PI4KA-related disorder [RCV004736719] Chr22:20819695 [GRCh38]
Chr22:21173983 [GRCh37]
Chr22:22q11.21
likely benign
NM_000185.4(SERPIND1):c.990dup (p.Asn331fs) duplication SERPIND1-related disorder [RCV004730368] Chr22:20784068..20784069 [GRCh38]
Chr22:21138356..21138357 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_000185.4(SERPIND1):c.557_558del (p.Phe186fs) deletion Heparin cofactor II deficiency [RCV004796977] Chr22:20779868..20779869 [GRCh38]
Chr22:21134156..21134157 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_000185.4(SERPIND1):c.623G>A (p.Arg208His) single nucleotide variant Heparin cofactor II deficiency [RCV000016092] Chr22:20779935 [GRCh38]
Chr22:21134223 [GRCh37]
Chr22:22q11.21
pathogenic|benign
GRCh38/hg38 22q11.21(chr22:20726972-21086166)x3 copy number gain See cases [RCV000134521] Chr22:20726972..21086166 [GRCh38]
Chr22:21081260..21440455 [GRCh37]
Chr22:19411260..19770455 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:20711594-21583391)x1 copy number loss See cases [RCV000134522] Chr22:20711594..21583391 [GRCh38]
Chr22:21065882..21937680 [GRCh37]
Chr22:19395882..20267680 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21003834)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(chr22:20711594-21151128)x3 copy number gain See cases [RCV000139254] Chr22:20711594..21151128 [GRCh38]
Chr22:21065882..21505417 [GRCh37]
Chr22:19395882..19835417 [NCBI36]
Chr22:22q11.21
uncertain significance
GRCh38/hg38 22q11.21(chr22:20711594-21151128)x1 copy number loss See cases [RCV000139255] Chr22:20711594..21151128 [GRCh38]
Chr22:21065882..21505417 [GRCh37]
Chr22:19395882..19835417 [NCBI36]
Chr22:22q11.21
uncertain significance
GRCh38/hg38 22q11.21-11.23(chr22:18339130-23480799)x1 copy number loss See cases [RCV000141233] Chr22:18339130..23480799 [GRCh38]
Chr22:20279766..23822986 [GRCh37]
Chr22:18659766..22152986 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1 copy number loss See cases [RCV000143293] Chr22:18339130..21111370 [GRCh38]
Chr22:18876630..21465659 [GRCh37]
Chr22:17256630..19795659 [NCBI36]
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(chr22:18916842-21465659)x3 copy number gain See cases [RCV000448486] Chr22:18916842..21465659 [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(chr22:18912403-21431174) 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
Single allele duplication Neurodevelopmental disorder [RCV000787416] Chr22:18890264..21464056 [GRCh37]
Chr22:22q11.21
likely pathogenic
GRCh37/hg19 22q11.21(chr22:21092648-21465662)x1 copy number loss not provided [RCV002472590] Chr22:21092648..21465662 [GRCh37]
Chr22:22q11.21
likely pathogenic
GRCh37/hg19 22q11.21(chr22:20730996-21465342)x1 copy number loss not provided [RCV001537923] Chr22:20730996..21465342 [GRCh37]
Chr22:22q11.21
pathogenic
NM_058004.4(PI4KA):c.674G>A (p.Gly225Asp) single nucleotide variant not provided [RCV003131912] Chr22:20819756 [GRCh38]
Chr22:21174044 [GRCh37]
Chr22:22q11.21
uncertain significance
Single allele deletion See cases [RCV003154622] Chr22:18893886..21386103 [GRCh37]
Chr22:22q11.21
pathogenic
NM_058004.4(PI4KA):c.1080del (p.Ser361fs) deletion not provided [RCV003334243] Chr22:20807450 [GRCh38]
Chr22:21161738 [GRCh37]
Chr22:22q11.21
pathogenic
NM_058004.4(PI4KA):c.2977del (p.Leu993fs) deletion PI4KA-related disorder [RCV004529626] Chr22:20752913 [GRCh38]
Chr22:21107201 [GRCh37]
Chr22:22q11.21
pathogenic
NM_000185.4(SERPIND1):c.800T>G (p.Met267Arg) single nucleotide variant not specified [RCV004351412] Chr22:20780112 [GRCh38]
Chr22:21134400 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.1525G>C (p.Asp509His) single nucleotide variant Inborn genetic diseases [RCV004503451] Chr22:20803257 [GRCh38]
Chr22:21157545 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_058004.4(PI4KA):c.1341G>T (p.Trp447Cys) single nucleotide variant Inborn genetic diseases [RCV004503450] Chr22:20804993 [GRCh38]
Chr22:21159281 [GRCh37]
Chr22:22q11.21
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5159
Count of miRNA genes:1079
Interacting mature miRNAs:1339
Transcripts:ENST00000255882, ENST00000399213, ENST00000414196, ENST00000449120, ENST00000462210, ENST00000466162, ENST00000466394, ENST00000466772, ENST00000475414, ENST00000477245, ENST00000477368, ENST00000482030, ENST00000484220, ENST00000485123, ENST00000485950, ENST00000485963, ENST00000489966, ENST00000490873, ENST00000492581, ENST00000494113, ENST00000572273
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597235481GWAS1331555_Hblood protein measurement QTL GWAS1331555 (human)1e-21blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)222078495120784952Human
1581529BP71_HBlood pressure QTL 71 (human)20.001Blood pressurepulse pressure221109496637094966Human
597083223GWAS1179297_Hmonocyte count QTL GWAS1179297 (human)4e-13monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)222074655420746555Human
597235480GWAS1331554_Hblood protein measurement QTL GWAS1331554 (human)5e-17blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)222078495120784952Human
597147158GWAS1243232_HCOVID-19 QTL GWAS1243232 (human)0.0000001COVID-19222081500620815007Human
597200859GWAS1296933_Htype 1 diabetes mellitus QTL GWAS1296933 (human)0.000007type 1 diabetes mellitus222081430120814302Human
597302623GWAS1398697_Hmonocyte count QTL GWAS1398697 (human)5e-08monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)222077475820774759Human
597341138GWAS1437212_Hbrain measurement QTL GWAS1437212 (human)2e-11brain measurementbrain measurement (CMO:0000911)222072246620722467Human
597235216GWAS1331290_Hblood protein measurement QTL GWAS1331290 (human)3e-21blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)222078495120784952Human
597235475GWAS1331549_Hblood protein measurement QTL GWAS1331549 (human)3e-18blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)222078495120784952Human
597304342GWAS1400416_Hlevel of ADP-ribose glycohydrolase MACROD2 in blood serum QTL GWAS1400416 (human)1e-12level of ADP-ribose glycohydrolase MACROD2 in blood serum222077977920779780Human
597304138GWAS1400212_Hlevel of serine/threonine-protein phosphatase 4 catalytic subunit in blood serum QTL GWAS1400212 (human)1e-13level of serine/threonine-protein phosphatase 4 catalytic subunit in blood serum222073088820730889Human
597235210GWAS1331284_Hblood protein measurement QTL GWAS1331284 (human)2e-35blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)222078495120784952Human
597235215GWAS1331289_Hblood protein measurement QTL GWAS1331289 (human)2e-19blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)222078495120784952Human
597237966GWAS1334040_Hcortical thickness QTL GWAS1334040 (human)7e-15cortical thickness222076373620763737Human
597089358GWAS1185432_Hmonocyte percentage of leukocytes QTL GWAS1185432 (human)2e-09monocyte percentage of leukocytesblood monocyte count to total leukocyte count ratio (CMO:0000374)222070977120709772Human
597313474GWAS1409548_Hcortical thickness QTL GWAS1409548 (human)1e-18cortical thickness222076373620763737Human
597232832GWAS1328906_Hblood protein measurement QTL GWAS1328906 (human)2e-31blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)222078495120784952Human
597148110GWAS1244184_HCOVID-19 QTL GWAS1244184 (human)8e-08COVID-19222081040620810407Human
597195970GWAS1292044_Hplatelet count QTL GWAS1292044 (human)8e-18platelet quantity (VT:0003179)platelet count (CMO:0000029)222071871020718711Human
597099020GWAS1195094_Hmonocyte count QTL GWAS1195094 (human)2e-15monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)222074655420746555Human
597429122GWAS1525196_Hprotein measurement QTL GWAS1525196 (human)6e-22protein measurement222076373620763737Human
597146696GWAS1242770_HCOVID-19 QTL GWAS1242770 (human)0.000002COVID-19222080580520805806Human
597235769GWAS1331843_Hblood protein measurement QTL GWAS1331843 (human)2e-17blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)222078495120784952Human
597144502GWAS1240576_HCOVID-19 QTL GWAS1240576 (human)0.0000005COVID-19222082295720822958Human
597354557GWAS1450631_Hbody height QTL GWAS1450631 (human)1e-11body height (VT:0001253)body height (CMO:0000106)222076812420768125Human
597305906GWAS1401980_Hplatelet count QTL GWAS1401980 (human)2e-10platelet quantity (VT:0003179)platelet count (CMO:0000029)222075663920756640Human
597084222GWAS1180296_Hmean platelet volume QTL GWAS1180296 (human)7e-14mean platelet volumemean platelet volume (CMO:0001348)222082620020826201Human
597219185GWAS1315259_Hmean platelet volume QTL GWAS1315259 (human)1e-14mean platelet volumemean platelet volume (CMO:0001348)222073927520739276Human
597139902GWAS1235976_HCOVID-19 QTL GWAS1235976 (human)1e-08COVID-19222082002420820025Human
597428790GWAS1524864_Hprotein measurement QTL GWAS1524864 (human)2e-18protein measurement222084624320846244Human
597146365GWAS1242439_HCOVID-19 QTL GWAS1242439 (human)2e-17COVID-19222084845920848460Human
597235764GWAS1331838_Hblood protein measurement QTL GWAS1331838 (human)3e-33blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)222078495120784952Human
597430194GWAS1526268_Hprotein measurement QTL GWAS1526268 (human)9e-13protein measurement222074395920743960Human
597087012GWAS1183086_Hplatelet count QTL GWAS1183086 (human)1e-11platelet quantity (VT:0003179)platelet count (CMO:0000029)222077274520772746Human
597144292GWAS1240366_HCOVID-19 QTL GWAS1240366 (human)0.0000007COVID-19222081138720811388Human
597222508GWAS1318582_Hmean platelet volume QTL GWAS1318582 (human)7e-18mean platelet volumemean platelet volume (CMO:0001348)222072812420728125Human
2289428BW313_HBody weight QTL 313 (human)2.090.0015Body weightBMI221134428437344284Human
597235758GWAS1331832_Hblood protein measurement QTL GWAS1331832 (human)2e-23blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)222078495120784952Human

Markers in Region
RH27825  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372221,141,794 - 21,141,980UniSTSGRCh37
Build 362219,471,794 - 19,471,980RGDNCBI36
Celera224,633,153 - 4,633,339RGD
Cytogenetic Map22q11.21UniSTS
HuRef224,409,658 - 4,409,844UniSTS
SHGC-82177  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372221,213,905 - 21,214,236UniSTSGRCh37
Build 362219,543,905 - 19,544,236RGDNCBI36
Celera224,705,244 - 4,705,575RGD
Cytogenetic Map22q11.21UniSTS
HuRef224,482,046 - 4,482,377UniSTS
STS-M12849  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372221,141,595 - 21,141,817UniSTSGRCh37
Build 362219,471,595 - 19,471,817RGDNCBI36
Celera224,632,954 - 4,633,176RGD
Cytogenetic Map22q11.21UniSTS
HuRef224,409,459 - 4,409,681UniSTS
GeneMap99-GB4 RH Map2225.66UniSTS
NCBI RH Map2238.2UniSTS
D22S1540  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372221,141,685 - 21,141,807UniSTSGRCh37
Build 362219,471,685 - 19,471,807RGDNCBI36
Celera224,633,044 - 4,633,166RGD
Cytogenetic Map22q11.21UniSTS
HuRef224,409,549 - 4,409,671UniSTS
D22S1125  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372221,166,444 - 21,166,755UniSTSGRCh37
Build 362219,496,444 - 19,496,755RGDNCBI36
Celera224,657,798 - 4,658,109RGD
Cytogenetic Map22q11.21UniSTS
HuRef224,434,586 - 4,434,897UniSTS
Whitehead-YAC Contig Map22 UniSTS
WI-7024  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372221,141,596 - 21,141,940UniSTSGRCh37
Build 362219,471,596 - 19,471,940RGDNCBI36
Celera224,632,955 - 4,633,299RGD
Cytogenetic Map22q11.21UniSTS
HuRef224,409,460 - 4,409,804UniSTS
GeneMap99-GB4 RH Map2226.95UniSTS
Whitehead-RH Map224.5UniSTS
Whitehead-YAC Contig Map22 UniSTS
RH78571  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372221,062,152 - 21,062,337UniSTSGRCh37
Build 362219,392,152 - 19,392,337RGDNCBI36
Celera225,493,926 - 5,494,111RGD
Cytogenetic Map22q11.21UniSTS
HuRef224,330,011 - 4,330,196UniSTS
GeneMap99-GB4 RH Map2227.53UniSTS
D22S311  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372221,178,949 - 21,179,208UniSTSGRCh37
Build 362219,508,949 - 19,509,208RGDNCBI36
Celera224,670,307 - 4,670,563RGD
Cytogenetic Map22q11.21UniSTS
HuRef224,447,078 - 4,447,333UniSTS
Whitehead-YAC Contig Map22 UniSTS
SHGC-57873  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372221,116,455 - 21,116,586UniSTSGRCh37
Build 362219,446,455 - 19,446,586RGDNCBI36
Celera224,607,815 - 4,607,946RGD
Cytogenetic Map22q11.21UniSTS
HuRef224,384,330 - 4,384,461UniSTS
TNG Radiation Hybrid Map221605.0UniSTS
D22S1026  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372221,141,402 - 21,141,712UniSTSGRCh37
Build 362219,471,402 - 19,471,712RGDNCBI36
Celera224,632,761 - 4,633,071RGD
Cytogenetic Map22q11.21UniSTS
HuRef224,409,266 - 4,409,576UniSTS
Whitehead-YAC Contig Map22 UniSTS
RH27899  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372221,832,893 - 21,834,085UniSTSGRCh37
GRCh372220,389,114 - 20,390,306UniSTSGRCh37
Celera224,558,964 - 4,560,159UniSTS
Cytogenetic Map22q11.21UniSTS
HuRef224,868,180 - 4,869,372UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2437 2788 2250 4973 1726 2351 5 622 1950 465 2269 7300 6469 53 3734 852 1744 1616 173 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001362862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001362863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_058004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005261635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_937868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB210002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF012872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL048955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC046202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC053654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU685224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA959365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L36151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000255882   ⟹   ENSP00000255882
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,707,691 - 20,858,811 (-)Ensembl
Ensembl Acc Id: ENST00000399213   ⟹   ENSP00000382162
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,707,719 - 20,721,418 (-)Ensembl
Ensembl Acc Id: ENST00000449120   ⟹   ENSP00000402437
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,824,347 - 20,859,417 (-)Ensembl
Ensembl Acc Id: ENST00000462210
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,733,736 - 20,734,495 (-)Ensembl
Ensembl Acc Id: ENST00000466162
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,753,146 - 20,793,374 (-)Ensembl
Ensembl Acc Id: ENST00000466394
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,711,302 - 20,717,844 (-)Ensembl
Ensembl Acc Id: ENST00000466772
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,707,704 - 20,727,357 (-)Ensembl
Ensembl Acc Id: ENST00000475414
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,747,484 - 20,751,680 (-)Ensembl
Ensembl Acc Id: ENST00000477245
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,707,703 - 20,734,667 (-)Ensembl
Ensembl Acc Id: ENST00000477368
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,734,477 - 20,736,866 (-)Ensembl
Ensembl Acc Id: ENST00000482030
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,710,752 - 20,712,993 (-)Ensembl
Ensembl Acc Id: ENST00000484220
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,764,615 - 20,796,158 (-)Ensembl
Ensembl Acc Id: ENST00000485123
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,727,569 - 20,729,471 (-)Ensembl
Ensembl Acc Id: ENST00000485950
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,798,940 - 20,802,018 (-)Ensembl
Ensembl Acc Id: ENST00000485963
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,798,478 - 20,858,812 (-)Ensembl
Ensembl Acc Id: ENST00000489966
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,726,316 - 20,727,293 (-)Ensembl
Ensembl Acc Id: ENST00000492581
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,707,693 - 20,722,009 (-)Ensembl
Ensembl Acc Id: ENST00000494113
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2220,734,477 - 20,742,917 (-)Ensembl
RefSeq Acc Id: NM_001362862   ⟹   NP_001349791
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,707,691 - 20,858,811 (-)NCBI
T2T-CHM13v2.02221,116,400 - 21,267,532 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001362863   ⟹   NP_001349792
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,707,691 - 20,858,811 (-)NCBI
T2T-CHM13v2.02221,116,400 - 21,267,532 (-)NCBI
Sequence:
RefSeq Acc Id: NM_058004   ⟹   NP_477352
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382220,707,691 - 20,858,811 (-)NCBI
GRCh372221,061,979 - 21,213,100 (-)NCBI
Build 362219,391,979 - 19,543,070 (-)NCBI Archive
HuRef224,329,838 - 4,481,241 (-)NCBI
CHM1_12221,062,151 - 21,213,286 (-)NCBI
T2T-CHM13v2.02221,116,400 - 21,267,532 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005261635   ⟹   XP_005261692
Type: CODING
Position:
Human AssemblyChr