PPP4C (protein phosphatase 4 catalytic subunit) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: PPP4C (protein phosphatase 4 catalytic subunit) Homo sapiens
Analyze
Symbol: PPP4C
Name: protein phosphatase 4 catalytic subunit
RGD ID: 1352781
HGNC Page HGNC:9319
Description: Enables protein serine/threonine phosphatase activity. Involved in regulation of double-strand break repair via homologous recombination. Located in several cellular components, including chromatin; nucleoplasm; and protein phosphatase 4 complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: PP-X; PP4; PP4C; PPH3; PPP4; PPX; protein phosphatase 4 (formerly X), catalytic subunit; protein phosphatase X, catalytic subunit; serine/threonine-protein phosphatase 4 catalytic subunit
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381630,075,994 - 30,085,376 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1630,075,978 - 30,085,376 (+)EnsemblGRCh38hg38GRCh38
GRCh371630,087,315 - 30,096,697 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361629,994,886 - 30,004,196 (+)NCBINCBI36Build 36hg18NCBI36
Build 341629,994,884 - 30,004,196NCBI
Celera1672,699,024 - 72,708,334 (-)NCBICelera
Cytogenetic Map16p11.2NCBI
HuRef1627,748,654 - 27,757,965 (+)NCBIHuRef
CHM1_11631,303,142 - 31,312,452 (+)NCBICHM1_1
T2T-CHM13v2.01630,358,641 - 30,368,019 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
centrosome  (IEA)
chromatin  (IDA)
cytoplasm  (IBA,IEA)
cytoskeleton  (IEA)
cytosol  (IDA)
nucleoplasm  (IDA,TAS)
nucleus  (IBA,IEA,ISO)
plasma membrane  (IDA)
protein phosphatase 4 complex  (IEA,IPI)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
Autistic behavior  (IAGP)
Schizophrenia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Push back to respond better: regulatory inhibition of the DNA double-strand break response. Panier S and Durocher D, Nat Rev Mol Cell Biol. 2013 Oct;14(10):661-72. doi: 10.1038/nrm3659. Epub 2013 Sep 4.
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. Integrative analysis of promising molecular biomarkers and pathways for coronary artery disease using WGCNA and MetaDE methods. Yan S, Mol Med Rep. 2018 Sep;18(3):2789-2797. doi: 10.3892/mmr.2018.9277. Epub 2018 Jul 16.
Additional References at PubMed
PMID:1336397   PMID:8384557   PMID:9177794   PMID:9359419   PMID:9647778   PMID:9837938   PMID:10026142   PMID:10769191   PMID:12477932   PMID:12668731   PMID:15073167   PMID:15331607  
PMID:15364934   PMID:15489334   PMID:15805470   PMID:16085932   PMID:16159877   PMID:16769727   PMID:17353931   PMID:17384681   PMID:18029348   PMID:18347064   PMID:18424272   PMID:18487071  
PMID:18614045   PMID:18634786   PMID:18715871   PMID:18758438   PMID:19156129   PMID:19242545   PMID:19322201   PMID:19539371   PMID:20154705   PMID:20544796   PMID:20876121   PMID:21145461  
PMID:21423269   PMID:21873635   PMID:21900206   PMID:22491012   PMID:22665577   PMID:22732494   PMID:22863883   PMID:23084358   PMID:23671329   PMID:23830831   PMID:23966160   PMID:24109239  
PMID:24265311   PMID:24362026   PMID:24711418   PMID:24981860   PMID:25056061   PMID:25320307   PMID:25927939   PMID:26186194   PMID:26344197   PMID:26389662   PMID:26496610   PMID:26638075  
PMID:26673895   PMID:27041735   PMID:27059736   PMID:27169767   PMID:27317964   PMID:27432908   PMID:27880917   PMID:28330616   PMID:28514442   PMID:28611215   PMID:28700943   PMID:28846114  
PMID:29395067   PMID:29955894   PMID:30232004   PMID:30833792   PMID:31091453   PMID:31268609   PMID:31617661   PMID:31950832   PMID:31980649   PMID:32139257   PMID:32296183   PMID:32416067  
PMID:32707033   PMID:33226137   PMID:33567341   PMID:33961781   PMID:34011540   PMID:34244565   PMID:34315543   PMID:34373451   PMID:34857952   PMID:34964699   PMID:35256949   PMID:35271311  
PMID:35819319   PMID:35831314   PMID:35944360   PMID:36129980   PMID:36215168   PMID:36458827   PMID:36724073   PMID:36774506   PMID:37309898   PMID:37759442   PMID:37827155   PMID:37906628  


Genomics

Comparative Map Data
PPP4C
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381630,075,994 - 30,085,376 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1630,075,978 - 30,085,376 (+)EnsemblGRCh38hg38GRCh38
GRCh371630,087,315 - 30,096,697 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361629,994,886 - 30,004,196 (+)NCBINCBI36Build 36hg18NCBI36
Build 341629,994,884 - 30,004,196NCBI
Celera1672,699,024 - 72,708,334 (-)NCBICelera
Cytogenetic Map16p11.2NCBI
HuRef1627,748,654 - 27,757,965 (+)NCBIHuRef
CHM1_11631,303,142 - 31,312,452 (+)NCBICHM1_1
T2T-CHM13v2.01630,358,641 - 30,368,019 (+)NCBIT2T-CHM13v2.0
Ppp4c
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397126,385,038 - 126,391,729 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7126,385,038 - 126,391,668 (-)EnsemblGRCm39 Ensembl
GRCm387126,785,866 - 126,792,557 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7126,785,866 - 126,792,496 (-)EnsemblGRCm38mm10GRCm38
MGSCv377133,929,382 - 133,935,985 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367126,577,016 - 126,583,619 (-)NCBIMGSCv36mm8
Celera7126,633,213 - 126,639,847 (-)NCBICelera
Cytogenetic Map7F3NCBI
cM Map769.25NCBI
Ppp4c
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81190,823,447 - 190,830,247 (-)NCBIGRCr8
mRatBN7.21181,392,899 - 181,399,703 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1181,392,923 - 181,399,659 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1189,744,214 - 189,750,778 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01196,930,287 - 196,936,851 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01189,597,625 - 189,604,186 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01198,219,012 - 198,225,775 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1198,219,054 - 198,225,580 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01205,198,880 - 205,205,643 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41185,961,286 - 185,967,851 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11186,111,715 - 186,111,884 (-)NCBI
Celera1179,048,421 - 179,054,986 (-)NCBICelera
Cytogenetic Map1q36NCBI
Ppp4c
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554936,894,849 - 6,901,344 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554936,894,849 - 6,901,344 (-)NCBIChiLan1.0ChiLan1.0
PPP4C
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21830,825,628 - 30,835,235 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11635,390,648 - 35,400,068 (-)NCBINHGRI_mPanPan1
PanPan1.11630,450,550 - 30,459,889 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1630,450,467 - 30,464,446 (+)Ensemblpanpan1.1panPan2
PPP4C
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1618,085,048 - 18,092,861 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl618,085,116 - 18,092,854 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha619,663,615 - 19,671,457 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0618,220,957 - 18,228,799 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl618,221,033 - 18,228,784 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1618,019,909 - 18,027,751 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0617,935,306 - 17,943,149 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0618,250,933 - 18,258,775 (+)NCBIUU_Cfam_GSD_1.0
Ppp4c
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344124,310,098 - 124,318,235 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493650112,407,920 - 12,416,108 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493650112,407,968 - 12,416,057 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PPP4C
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl318,262,823 - 18,271,586 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1318,262,817 - 18,271,588 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
PPP4C
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1526,573,636 - 26,585,814 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl526,573,638 - 26,585,849 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660682,956,076 - 2,965,196 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ppp4c
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478213,174,376 - 13,180,995 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478213,174,585 - 13,181,055 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PPP4C
4 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000016.9:g.(?_30078199)_(30199917_?)dup duplication Severe combined immunodeficiency due to CORO1A deficiency [RCV000525191] Chr16:30066878..30188596 [GRCh38]
Chr16:30078199..30199917 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh38/hg38 16p11.2(chr16:29227272-30179247)x3 copy number gain See cases [RCV000050652] Chr16:29227272..30179247 [GRCh38]
Chr16:29238593..30190568 [GRCh37]
Chr16:29146094..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29227272-30179247)x1 copy number loss See cases [RCV000050653] Chr16:29227272..30179247 [GRCh38]
Chr16:29238593..30190568 [GRCh37]
Chr16:29146094..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29581462-30179247)x3 copy number gain See cases [RCV000050591] Chr16:29581462..30179247 [GRCh38]
Chr16:29592783..30190568 [GRCh37]
Chr16:29500284..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29581462-30179247)x1 copy number loss See cases [RCV000050595] Chr16:29581462..30179247 [GRCh38]
Chr16:29592783..30190568 [GRCh37]
Chr16:29500284..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29581462-30321260)x1 copy number loss See cases [RCV000050431] Chr16:29581462..30321260 [GRCh38]
Chr16:29592783..30332581 [GRCh37]
Chr16:29500284..30240082 [NCBI36]
Chr16:16p11.2		 pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29662633-30179247)x3 copy number gain See cases [RCV000050432] Chr16:29662633..30179247 [GRCh38]
Chr16:29673954..30190568 [GRCh37]
Chr16:29581455..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29662633-30179247)x1 copy number loss See cases [RCV000050433] Chr16:29662633..30179247 [GRCh38]
Chr16:29673954..30190568 [GRCh37]
Chr16:29581455..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29837647-30179388)x3 copy number gain Abnormal facial shape [RCV000051229]|See cases [RCV000051229] Chr16:29837647..30179388 [GRCh38]
Chr16:29848968..30190709 [GRCh37]
Chr16:29756469..30098210 [NCBI36]
Chr16:16p11.2		 pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29227272-30321260)x3 copy number gain See cases [RCV000051168] Chr16:29227272..30321260 [GRCh38]
Chr16:29238593..30332581 [GRCh37]
Chr16:29146094..30240082 [NCBI36]
Chr16:16p11.2		 pathogenic|uncertain significance
GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3 copy number gain See cases [RCV000052401] Chr16:23047969..30632245 [GRCh38]
Chr16:23059290..30643566 [GRCh37]
Chr16:22966791..30551067 [NCBI36]
Chr16:16p12.2-11.2		 pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28456967-30295107)x1 copy number loss See cases [RCV000052520] Chr16:28456967..30295107 [GRCh38]
Chr16:28468288..30306428 [GRCh37]
Chr16:28375789..30213929 [NCBI36]
Chr16:16p12.1-11.2		 pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x1 copy number loss See cases [RCV000054252] Chr16:28492482..30179247 [GRCh38]
Chr16:28503803..30190568 [GRCh37]
Chr16:28411304..30098069 [NCBI36]
Chr16:16p12.1-11.2		 pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:28531783-30183432)x1 copy number loss See cases [RCV000054253] Chr16:28531783..30183432 [GRCh38]
Chr16:28543104..30194753 [GRCh37]
Chr16:28450605..30102254 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29441012-30183432)x3 copy number gain See cases [RCV000054255] Chr16:29441012..30183432 [GRCh38]
Chr16:29452333..30194753 [GRCh37]
Chr16:29359834..30102254 [NCBI36]
Chr16:16p11.2		 pathogenic|uncertain significance
GRCh38/hg38 16p12.1-11.2(chr16:28366111-30183432)x3 copy number gain See cases [RCV000054346] Chr16:28366111..30183432 [GRCh38]
Chr16:28377432..30194753 [GRCh37]
Chr16:28284933..30102254 [NCBI36]
Chr16:16p12.1-11.2		 pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29086504-30333716)x3 copy number gain See cases [RCV000054347] Chr16:29086504..30333716 [GRCh38]
Chr16:29097825..30345037 [GRCh37]
Chr16:29005326..30252538 [NCBI36]
Chr16:16p11.2		 pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29170620-30179388)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054348]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054348]|See cases [RCV000054348] Chr16:29170620..30179388 [GRCh38]
Chr16:29181941..30190709 [GRCh37]
Chr16:29089442..30098210 [NCBI36]
Chr16:16p11.2		 pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29441012-30183432)x1 copy number loss See cases [RCV000054256] Chr16:29441012..30183432 [GRCh38]
Chr16:29452333..30194753 [GRCh37]
Chr16:29359834..30102254 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29566441-30187279)x1 copy number loss See cases [RCV000054258] Chr16:29566441..30187279 [GRCh38]
Chr16:29577762..30198600 [GRCh37]
Chr16:29485263..30106101 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29581262-30179388)x1 copy number loss See cases [RCV000054260] Chr16:29581262..30179388 [GRCh38]
Chr16:29592583..30190709 [GRCh37]
Chr16:29500084..30098210 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29581462-30162533)x1 copy number loss See cases [RCV000054264] Chr16:29581462..30162533 [GRCh38]
Chr16:29592783..30173854 [GRCh37]
Chr16:29500284..30081355 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29645363-30183432)x3 copy number gain See cases [RCV000054266] Chr16:29645363..30183432 [GRCh38]
Chr16:29656684..30194753 [GRCh37]
Chr16:29564185..30102254 [NCBI36]
Chr16:16p11.2		 pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29645363-30183432)x1 copy number loss See cases [RCV000054267] Chr16:29645363..30183432 [GRCh38]
Chr16:29656684..30194753 [GRCh37]
Chr16:29564185..30102254 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29170820-30179247)x3 copy number gain See cases [RCV000054364] Chr16:29170820..30179247 [GRCh38]
Chr16:29182141..30190568 [GRCh37]
Chr16:29089642..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic|likely pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29227072-30179388)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054365]|Global developmental delay [RCV000054366]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054365]|See cases [RCV000054365] Chr16:29227072..30179388 [GRCh38]
Chr16:29238393..30190709 [GRCh37]
Chr16:29145894..30098210 [NCBI36]
Chr16:16p11.2		 pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29441012-30323310)x3 copy number gain See cases [RCV000054367] Chr16:29441012..30323310 [GRCh38]
Chr16:29452333..30334631 [GRCh37]
Chr16:29359834..30242132 [NCBI36]
Chr16:16p11.2		 pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29566440-30187279)x3 copy number gain See cases [RCV000054369] Chr16:29566440..30187279 [GRCh38]
Chr16:29577761..30198600 [GRCh37]
Chr16:29485262..30106101 [NCBI36]
Chr16:16p11.2		 pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29653208-30162533)x3 copy number gain See cases [RCV000054288] Chr16:29653208..30162533 [GRCh38]
Chr16:29664529..30173854 [GRCh37]
Chr16:29572030..30081355 [NCBI36]
Chr16:16p11.2		 pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29653208-30162533)x1 copy number loss See cases [RCV000054290] Chr16:29653208..30162533 [GRCh38]
Chr16:29664529..30173854 [GRCh37]
Chr16:29572030..30081355 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29662433-30179388)x3 copy number gain Seizures [RCV000054291]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054292]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054292]|See cases [RCV000054291] Chr16:29662433..30179388 [GRCh38]
Chr16:29673754..30190709 [GRCh37]
Chr16:29581255..30098210 [NCBI36]
Chr16:16p11.2		 pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29662433-30179388)x1 copy number loss See cases [RCV000054293] Chr16:29662433..30179388 [GRCh38]
Chr16:29673754..30190709 [GRCh37]
Chr16:29581255..30098210 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29600893-30187279)x3 copy number gain See cases [RCV000054370] Chr16:29600893..30187279 [GRCh38]
Chr16:29612214..30198600 [GRCh37]
Chr16:29519715..30106101 [NCBI36]
Chr16:16p11.2		 pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29645363-30323310)x3 copy number gain See cases [RCV000054371] Chr16:29645363..30323310 [GRCh38]
Chr16:29656684..30334631 [GRCh37]
Chr16:29564185..30242132 [NCBI36]
Chr16:16p11.2		 pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29662633-30321260)x3 copy number gain See cases [RCV000054372] Chr16:29662633..30321260 [GRCh38]
Chr16:29673954..30332581 [GRCh37]
Chr16:29581455..30240082 [NCBI36]
Chr16:16p11.2		 pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29662633-30179388)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054373]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054373]|See cases [RCV000054373] Chr16:29662633..30179388 [GRCh38]
Chr16:29673954..30190709 [GRCh37]
Chr16:29581455..30098210 [NCBI36]
Chr16:16p11.2		 pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29662635-30186020)x3 copy number gain See cases [RCV000054374] Chr16:29662635..30186020 [GRCh38]
Chr16:29673956..30197341 [GRCh37]
Chr16:29581457..30104842 [NCBI36]
Chr16:16p11.2		 pathogenic|likely pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29662633-30187279)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054299]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054299]|See cases [RCV000054299] Chr16:29662633..30187279 [GRCh38]
Chr16:29673954..30198600 [GRCh37]
Chr16:16p11.2		 pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29662633-30187279)x1 copy number loss See cases [RCV000054300] Chr16:29662633..30187279 [GRCh38]
Chr16:29673954..30198600 [GRCh37]
Chr16:29581455..30106101 [NCBI36]
Chr16:16p11.2		 pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29662635-30187279)x3 copy number gain See cases [RCV000054302] Chr16:29662635..30187279 [GRCh38]
Chr16:29673956..30198600 [GRCh37]
Chr16:29581457..30106101 [NCBI36]
Chr16:16p11.2		 pathogenic|likely pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29662635-30187279)x1 copy number loss See cases [RCV000054303] Chr16:29662635..30187279 [GRCh38]
Chr16:29673956..30198600 [GRCh37]
Chr16:29581457..30106101 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29662635-30108438)x1 copy number loss See cases [RCV000054305] Chr16:29662635..30108438 [GRCh38]
Chr16:29673956..30119759 [GRCh37]
Chr16:29581457..30027260 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29663527-30183432)x1 copy number loss See cases [RCV000054307] Chr16:29663527..30183432 [GRCh38]
Chr16:29674848..30194753 [GRCh37]
Chr16:29582349..30102254 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29808232-30162533)x1 copy number loss See cases [RCV000054309] Chr16:29808232..30162533 [GRCh38]
Chr16:29819553..30173854 [GRCh37]
Chr16:29727054..30081355 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29829840-30183432)x1 copy number loss See cases [RCV000054312] Chr16:29829840..30183432 [GRCh38]
Chr16:29841161..30194753 [GRCh37]
Chr16:29748662..30102254 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29844610-30187279)x1 copy number loss See cases [RCV000054314] Chr16:29844610..30187279 [GRCh38]
Chr16:29855931..30198600 [GRCh37]
Chr16:29763432..30106101 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29662633-30187279)x3 copy number gain See cases [RCV000054299] Chr16:29662633..30187279 [GRCh38]
Chr16:29673954..30198600 [GRCh37]
Chr16:29581455..30106101 [NCBI36]
Chr16:16p11.2		 likely pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29645363-30185969)x1 copy number loss See cases [RCV000134450] Chr16:29645363..30185969 [GRCh38]
Chr16:29656684..30197290 [GRCh37]
Chr16:29564185..30104791 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29662633-30179188)x1 copy number loss See cases [RCV000134452] Chr16:29662633..30179188 [GRCh38]
Chr16:29673954..30190509 [GRCh37]
Chr16:29581455..30098010 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29634999-30185969)x1 copy number loss See cases [RCV000134460] Chr16:29634999..30185969 [GRCh38]
Chr16:29646320..30197290 [GRCh37]
Chr16:29553821..30104791 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29466738-30179247)x1 copy number loss See cases [RCV000133991] Chr16:29466738..30179247 [GRCh38]
Chr16:29478059..30190568 [GRCh37]
Chr16:29385560..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3 copy number gain See cases [RCV000135339] Chr16:29909613..31438697 [GRCh38]
Chr16:29920934..31450018 [GRCh37]
Chr16:29828435..31357519 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29609368-30179188)x3 copy number gain See cases [RCV000135284] Chr16:29609368..30179188 [GRCh38]
Chr16:29620689..30190509 [GRCh37]
Chr16:29528190..30098010 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x3 copy number gain See cases [RCV000135765] Chr16:28492482..30179247 [GRCh38]
Chr16:28503803..30190568 [GRCh37]
Chr16:28411304..30098069 [NCBI36]
Chr16:16p12.1-11.2		 pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29662633-30321260)x1 copy number loss See cases [RCV000135768] Chr16:29662633..30321260 [GRCh38]
Chr16:29673954..30332581 [GRCh37]
Chr16:29581455..30240082 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29581462-30691912)x1 copy number loss See cases [RCV000135589] Chr16:29581462..30691912 [GRCh38]
Chr16:29592783..30703233 [GRCh37]
Chr16:29500284..30610734 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29581462-30321260)x3 copy number gain See cases [RCV000135445] Chr16:29581462..30321260 [GRCh38]
Chr16:29592783..30332581 [GRCh37]
Chr16:29500284..30240082 [NCBI36]
Chr16:16p11.2		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29662633-30186020)x1 copy number loss See cases [RCV000136137] Chr16:29662633..30186020 [GRCh38]
Chr16:29673954..30197341 [GRCh37]
Chr16:29581455..30104842 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29662646-30321248)x3 copy number gain See cases [RCV000135976] Chr16:29662646..30321248 [GRCh38]
Chr16:29673967..30332569 [GRCh37]
Chr16:29581468..30240070 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29318115-30179272)x3 copy number gain See cases [RCV000136065] Chr16:29318115..30179272 [GRCh38]
Chr16:29329436..30190593 [GRCh37]
Chr16:29236937..30098094 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29466738-30320693)x3 copy number gain See cases [RCV000137516] Chr16:29466738..30320693 [GRCh38]
Chr16:29478059..30332014 [GRCh37]
Chr16:29385560..30239515 [NCBI36]
Chr16:16p11.2		 likely pathogenic|conflicting data from submitters
GRCh38/hg38 16p12.1-11.2(chr16:28392832-30186020)x1 copy number loss See cases [RCV000137580] Chr16:28392832..30186020 [GRCh38]
Chr16:28404153..30197341 [GRCh37]
Chr16:28311654..30104842 [NCBI36]
Chr16:16p12.1-11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29645363-30321270)x3 copy number gain See cases [RCV000137446] Chr16:29645363..30321270 [GRCh38]
Chr16:29656684..30332591 [GRCh37]
Chr16:29564185..30240092 [NCBI36]
Chr16:16p11.2		 likely pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29427948-30320693)x3 copy number gain See cases [RCV000137618] Chr16:29427948..30320693 [GRCh38]
Chr16:29439269..30332014 [GRCh37]
Chr16:29346770..30239515 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29579233-30179247)x1 copy number loss See cases [RCV000138036] Chr16:29579233..30179247 [GRCh38]
Chr16:29590554..30190568 [GRCh37]
Chr16:29498055..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29579233-30179247)x3 copy number gain See cases [RCV000138032] Chr16:29579233..30179247 [GRCh38]
Chr16:29590554..30190568 [GRCh37]
Chr16:29498055..30098069 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29466738-30186020)x3 copy number gain See cases [RCV000138440] Chr16:29466738..30186020 [GRCh38]
Chr16:29478059..30197341 [GRCh37]
Chr16:29385560..30104842 [NCBI36]
Chr16:16p11.2		 likely pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29579233-30186020)x3 copy number gain See cases [RCV000138442] Chr16:29579233..30186020 [GRCh38]
Chr16:29590554..30197341 [GRCh37]
Chr16:29498055..30104842 [NCBI36]
Chr16:16p11.2		 pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29579233-30186020)x1 copy number loss See cases [RCV000138443] Chr16:29579233..30186020 [GRCh38]
Chr16:29590554..30197341 [GRCh37]
Chr16:29498055..30104842 [NCBI36]
Chr16:16p11.2		 pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29645363-30186020)x3 copy number gain See cases [RCV000138342] Chr16:29645363..30186020 [GRCh38]
Chr16:29656684..30197341 [GRCh37]
Chr16:29564185..30104842 [NCBI36]
Chr16:16p11.2		 likely pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29645363-30186020)x1 copy number loss See cases [RCV000138343] Chr16:29645363..30186020 [GRCh38]
Chr16:29656684..30197341 [GRCh37]
Chr16:29564185..30104842 [NCBI36]
Chr16:16p11.2		 pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29318115-30321248)x3 copy number gain See cases [RCV000138501] Chr16:29318115..30321248 [GRCh38]
Chr16:29329436..30332569 [GRCh37]
Chr16:29236937..30240070 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29581470-30179272)x1 copy number loss See cases [RCV000138508] Chr16:29581470..30179272 [GRCh38]
Chr16:29592791..30190593 [GRCh37]
Chr16:29500292..30098094 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29579233-30320693)x3 copy number gain See cases [RCV000139248] Chr16:29579233..30320693 [GRCh38]
Chr16:29590554..30332014 [GRCh37]
Chr16:29498055..30239515 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29579233-30320693)x1 copy number loss See cases [RCV000139249] Chr16:29579233..30320693 [GRCh38]
Chr16:29590554..30332014 [GRCh37]
Chr16:29498055..30239515 [NCBI36]
Chr16:16p11.2		 pathogenic|likely pathogenic
GRCh38/hg38 16p11.2(chr16:29466739-30321248)x3 copy number gain See cases [RCV000139095] Chr16:29466739..30321248 [GRCh38]
Chr16:29478060..30332569 [GRCh37]
Chr16:29385561..30240070 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29609368-30320693)x3 copy number gain See cases [RCV000139032] Chr16:29609368..30320693 [GRCh38]
Chr16:29620689..30332014 [GRCh37]
Chr16:29528190..30239515 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30308986)x1 copy number loss See cases [RCV000140452] Chr16:29555974..30308986 [GRCh38]
Chr16:29567295..30320307 [GRCh37]
Chr16:29474796..30227808 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29581462-30185969)x3 copy number gain See cases [RCV000140510] Chr16:29581462..30185969 [GRCh38]
Chr16:29592783..30197290 [GRCh37]
Chr16:29500284..30104791 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28392832-30320693)x1 copy number loss See cases [RCV000139916] Chr16:28392832..30320693 [GRCh38]
Chr16:28404153..30332014 [GRCh37]
Chr16:28311654..30239515 [NCBI36]
Chr16:16p12.1-11.2		 pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3 copy number gain See cases [RCV000140341] Chr16:27311746..31193406 [GRCh38]
Chr16:27323067..31204727 [GRCh37]
Chr16:27230568..31112228 [NCBI36]
Chr16:16p12.1-11.2		 pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3 copy number gain See cases [RCV000141141] Chr16:23752047..31943755 [GRCh38]
Chr16:23763368..31955076 [GRCh37]
Chr16:23670869..31862577 [NCBI36]
Chr16:16p12.2-11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29427948-30186020)x1 copy number loss See cases [RCV000141285] Chr16:29427948..30186020 [GRCh38]
Chr16:29439269..30197341 [GRCh37]
Chr16:29346770..30104842 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29609368-30185969)x1 copy number loss See cases [RCV000141120] Chr16:29609368..30185969 [GRCh38]
Chr16:29620689..30197290 [GRCh37]
Chr16:29528190..30104791 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30215609)x1 copy number loss See cases [RCV000140887] Chr16:29555974..30215609 [GRCh38]
Chr16:29567295..30226930 [GRCh37]
Chr16:29474796..30134431 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29568699-30166595)x1 copy number loss See cases [RCV000141992] Chr16:29568699..30166595 [GRCh38]
Chr16:29580020..30177916 [GRCh37]
Chr16:29487521..30085417 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29506377-30180527)x3 copy number gain See cases [RCV000141993] Chr16:29506377..30180527 [GRCh38]
Chr16:29517698..30191848 [GRCh37]
Chr16:29425199..30099349 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29568699-30295634)x3 copy number gain See cases [RCV000141947] Chr16:29568699..30295634 [GRCh38]
Chr16:29580020..30306955 [GRCh37]
Chr16:29487521..30214456 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29568699-30166678)x1 copy number loss See cases [RCV000141749] Chr16:29568699..30166678 [GRCh38]
Chr16:29580020..30177999 [GRCh37]
Chr16:29487521..30085500 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29569779-30228906)x3 copy number gain See cases [RCV000141682] Chr16:29569779..30228906 [GRCh38]
Chr16:29581100..30240227 [GRCh37]
Chr16:29488601..30147728 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30309999)x1 copy number loss See cases [RCV000141685] Chr16:29555974..30309999 [GRCh38]
Chr16:29567295..30321320 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29555975-30180527)x3 copy number gain See cases [RCV000142335] Chr16:29555975..30180527 [GRCh38]
Chr16:29567296..30191848 [GRCh37]
Chr16:29474797..30099349 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29662646-30179272)x1 copy number loss See cases [RCV000142500] Chr16:29662646..30179272 [GRCh38]
Chr16:29673967..30190593 [GRCh37]
Chr16:29581468..30098094 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29506377-30165919)x3 copy number gain See cases [RCV000142063] Chr16:29506377..30165919 [GRCh38]
Chr16:29517698..30177240 [GRCh37]
Chr16:29425199..30084741 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29513831-30206791)x1 copy number loss See cases [RCV000142087] Chr16:29513831..30206791 [GRCh38]
Chr16:29525152..30218112 [GRCh37]
Chr16:29432653..30125613 [NCBI36]
Chr16:16p11.2		 uncertain significance
GRCh38/hg38 16p11.2(chr16:29555974-30178708)x1 copy number loss See cases [RCV000142045] Chr16:29555974..30178708 [GRCh38]
Chr16:29567295..30190029 [GRCh37]
Chr16:29474796..30097530 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29682770-30186020)x3 copy number gain See cases [RCV000142875] Chr16:29682770..30186020 [GRCh38]
Chr16:29694091..30197341 [GRCh37]
Chr16:29601592..30104842 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29581470-30321248)x3 copy number gain See cases [RCV000142929] Chr16:29581470..30321248 [GRCh38]
Chr16:29592791..30332569 [GRCh37]
Chr16:29500292..30240070 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30166595)x1 copy number loss See cases [RCV000143363] Chr16:29555974..30166595 [GRCh38]
Chr16:29567295..30177916 [GRCh37]
Chr16:29474796..30085417 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29579757-30228906)x3 copy number gain See cases [RCV000143364] Chr16:29579757..30228906 [GRCh38]
Chr16:29591078..30240227 [GRCh37]
Chr16:29498579..30147728 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29892937-30433124)x3 copy number gain See cases [RCV000143385] Chr16:29892937..30433124 [GRCh38]
Chr16:29904258..30444445 [GRCh37]
Chr16:29811759..30351946 [NCBI36]
Chr16:16p11.2		 pathogenic|likely benign
GRCh38/hg38 16p11.2(chr16:29568699-30228906)x3 copy number gain See cases [RCV000143431] Chr16:29568699..30228906 [GRCh38]
Chr16:29580020..30240227 [GRCh37]
Chr16:29487521..30147728 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30309999)x3 copy number gain See cases [RCV000143386] Chr16:29555974..30309999 [GRCh38]
Chr16:29567295..30321320 [GRCh37]
Chr16:29474796..30228821 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29598613-30165919)x3 copy number gain See cases [RCV000143305] Chr16:29598613..30165919 [GRCh38]
Chr16:29609934..30177240 [GRCh37]
Chr16:29517435..30084741 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29420891-30166595)x1 copy number loss See cases [RCV000143228] Chr16:29420891..30166595 [GRCh38]
Chr16:29432212..30177916 [GRCh37]
Chr16:29339713..30085417 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30166486)x1 copy number loss See cases [RCV000143670] Chr16:29555974..30166486 [GRCh38]
Chr16:29567295..30177807 [GRCh37]
Chr16:29474796..30085308 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29627319-30165919)x3 copy number gain See cases [RCV000143581] Chr16:29627319..30165919 [GRCh38]
Chr16:29638640..30177240 [GRCh37]
Chr16:29546141..30084741 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30166678)x1 copy number loss See cases [RCV000143478] Chr16:29555974..30166678 [GRCh38]
Chr16:29567295..30177999 [GRCh37]
Chr16:29474796..30085500 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30167085)x1 copy number loss See cases [RCV000143457] Chr16:29555974..30167085 [GRCh38]
Chr16:29567295..30178406 [GRCh37]
Chr16:29474796..30085907 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29581462-30321260)x1 copy number loss See cases [RCV000148288] Chr16:29581462..30321260 [GRCh38]
Chr16:29592783..30332581 [GRCh37]
Chr16:29500284..30240082 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29662633-30179247)x1 copy number loss See cases [RCV000148134] Chr16:29662633..30179247 [GRCh38]
Chr16:29673954..30190568 [GRCh37]
Chr16:29581455..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29662633-30179247)x3 copy number gain See cases [RCV000148254]|See cases [RCV000509065] Chr16:29662633..30179247 [GRCh38]
Chr16:29673954..30190568 [GRCh37]
Chr16:29581455..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x1 copy number loss See cases [RCV000148148] Chr16:28492482..30179247 [GRCh38]
Chr16:28503803..30190568 [GRCh37]
Chr16:28411304..30098069 [NCBI36]
Chr16:16p12.1-11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29662633-30187279)x1 copy number loss See cases [RCV000148157] Chr16:29662633..30187279 [GRCh38]
Chr16:29673954..30198600 [GRCh37]
Chr16:29581455..30106101 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29170820-30179247)x3 copy number gain See cases [RCV000148119] Chr16:29170820..30179247 [GRCh38]
Chr16:29182141..30190568 [GRCh37]
Chr16:29089642..30098069 [NCBI36]
Chr16:16p11.2		 uncertain significance
GRCh38/hg38 16p11.2(chr16:29662633-30321260)x3 copy number gain See cases [RCV000148123] Chr16:29662633..30321260 [GRCh38]
Chr16:29673954..30332581 [GRCh37]
Chr16:29581455..30240082 [NCBI36]
Chr16:16p11.2		 uncertain significance
GRCh38/hg38 16p11.2(chr16:29227272-30179247)x3 copy number gain See cases [RCV000148125] Chr16:29227272..30179247 [GRCh38]
Chr16:29238593..30190568 [GRCh37]
Chr16:29146094..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29227272-30179247)x1 copy number loss See cases [RCV000148095] Chr16:29227272..30179247 [GRCh38]
Chr16:29238593..30190568 [GRCh37]
Chr16:29146094..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29581462-30179247)x3 copy number gain See cases [RCV000148096] Chr16:29581462..30179247 [GRCh38]
Chr16:29592783..30190568 [GRCh37]
Chr16:29500284..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29581462-30179247)x1 copy number loss See cases [RCV000148097] Chr16:29581462..30179247 [GRCh38]
Chr16:29592783..30190568 [GRCh37]
Chr16:29500284..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29060171-30197341)x3 copy number gain See cases [RCV000240123] Chr16:29060171..30197341 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29060171-30195607)x3 copy number gain See cases [RCV000239797] Chr16:29060171..30195607 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29841933-30381027)x3 copy number gain Breast ductal adenocarcinoma [RCV000207131] Chr16:29841933..30381027 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
NC_000016.10:g.(?_29506378)_(30180574_?)dup duplication Autism spectrum disorder [RCV000208737] Chr16:29506378..30180574 [GRCh38]
Chr16:29517699..30191895 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NC_000016.10:g.(?_29506378)_(30180574_?)del deletion Autism spectrum disorder [RCV000208742] Chr16:29506378..30180574 [GRCh38]
Chr16:29517699..30191895 [GRCh37]
Chr16:16p11.2		 likely pathogenic
Single allele deletion Spondylocostal dysostosis 5 [RCV000235056] Chr16:29651599..30199709 [GRCh37]
Chr16:16p11.2		 pathogenic
NC_000016.10:g.(?_29602174)_(30178709_?)dup duplication Autism spectrum disorder [RCV000208719] Chr16:29602174..30178709 [GRCh38]
Chr16:29613495..30190030 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NC_000016.10:g.(?_29685652)_(30180586_?)dup duplication Autism spectrum disorder [RCV000208725] Chr16:29685652..30180586 [GRCh38]
Chr16:29696973..30191907 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NC_000016.10:g.(?_29390980)_(30215610_?)dup duplication Autism spectrum disorder [RCV000208728] Chr16:29390980..30215610 [GRCh38]
Chr16:29402301..30226931 [GRCh37]
Chr16:16p11.2		 likely pathogenic
GRCh37/hg19 16p11.2(chr16:29412503-30215621)x1 copy number loss See cases [RCV000239420] Chr16:29412503..30215621 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29646320-30197341)x3 copy number gain See cases [RCV000240419] Chr16:29646320..30197341 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29656684-30197341)x3 copy number gain See cases [RCV000240533] Chr16:29656684..30197341 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29646320-30197341)x1 copy number loss See cases [RCV000240290] Chr16:29646320..30197341 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29656684-30197341)x1 copy number loss See cases [RCV000240312] Chr16:29656684..30197341 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29567296-30177807)x1 copy number loss Dysmorphic features [RCV002282737] Chr16:29567296..30177807 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:29432212-30177807)x1 copy number loss See cases [RCV002285052] Chr16:29432212..30177807 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29591078-30177916)x3 copy number gain See cases [RCV000449091] Chr16:29591078..30177916 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3 copy number gain See cases [RCV000449403] Chr16:19424115..30142220 [GRCh37]
Chr16:16p12.3-11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29609934-30177916)x3 copy number gain See cases [RCV000446581] Chr16:29609934..30177916 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29580020-30177240)x1 copy number loss See cases [RCV000446623] Chr16:29580020..30177240 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29646320-30197290)x3 copy number gain See cases [RCV000447343] Chr16:29646320..30197290 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:28486693-30197290)x1 copy number loss See cases [RCV000447001] Chr16:28486693..30197290 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29567295-30177807)x1 copy number loss See cases [RCV000446546] Chr16:29567295..30177807 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p11.2(chr16:29567295-30177916)x1 copy number loss See cases [RCV000446174] Chr16:29567295..30177916 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29421694-30344958)x3 copy number gain See cases [RCV000446565] Chr16:29421694..30344958 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29597822-30240227)x3 copy number gain See cases [RCV000446189] Chr16:29597822..30240227 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29567295-30177240)x3 copy number gain See cases [RCV000445670] Chr16:29567295..30177240 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29351826-30191848)x1 copy number loss See cases [RCV000445672] Chr16:29351826..30191848 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29656684-30197290)x3 copy number gain See cases [RCV000445935] Chr16:29656684..30197290 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29432212-30177240)x3 copy number gain See cases [RCV000448489] Chr16:29432212..30177240 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29567295-30178406)x1 copy number loss See cases [RCV000448244] Chr16:29567295..30178406 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29567295-30177999)x1 copy number loss See cases [RCV000448616] Chr16:29567295..30177999 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29432212-30332125)x3 copy number gain See cases [RCV000448891] Chr16:29432212..30332125 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29656684-30197290)x4 copy number gain See cases [RCV000448726] Chr16:29656684..30197290 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29432212-30226930)x1 copy number loss See cases [RCV000448182] Chr16:29432212..30226930 [GRCh37]
Chr16:16p11.2		 pathogenic
NC_000016.10:g.(?_29646068)_(30181241_?)dup duplication Schizophrenia [RCV000416705] Chr16:29646068..30181241 [GRCh38]
Chr16:29657389..30192562 [GRCh37]
Chr16:29564890..30100063 [NCBI36]
Chr16:16p11.2		 pathogenic
NC_000016.10:g.(?_29620718)_(30181241_?)dup duplication Schizophrenia [RCV000416730] Chr16:29620718..30181241 [GRCh38]
Chr16:29632039..30192562 [GRCh37]
Chr16:29539540..30100063 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29060171-30197290)x3 copy number gain See cases [RCV000448328] Chr16:29060171..30197290 [GRCh37]
Chr16:16p11.2		 pathogenic
NC_000016.10:g.(?_29634955)_(30181241_?)dup duplication Schizophrenia [RCV000416835] Chr16:29634955..30181241 [GRCh38]
Chr16:29646276..30192562 [GRCh37]
Chr16:29553777..30100063 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29597822-30177240)x1 copy number loss See cases [RCV000448430] Chr16:29597822..30177240 [GRCh37]
Chr16:16p11.2		 pathogenic
NC_000016.10:g.(?_29634955)_(30181241_?)del deletion Schizophrenia [RCV000416902] Chr16:29634955..30181241 [GRCh38]
Chr16:29646276..30192562 [GRCh37]
Chr16:29553777..30100063 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh37/hg19 16p11.2(chr16:29626499-30177240)x3 copy number gain See cases [RCV000448771] Chr16:29626499..30177240 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1 copy number loss See cases [RCV000448084] Chr16:28826162..29043901 [GRCh37]
Chr16:16p11.2		 likely pathogenic
GRCh37/hg19 16p11.2(chr16:29624765-30197290)x3 copy number gain See cases [RCV000448360] Chr16:29624765..30197290 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29567296-30177999)x1 copy number loss See cases [RCV000512080] Chr16:29567296..30177999 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29571473-30243606)x3 copy number gain See cases [RCV000512126] Chr16:29571473..30243606 [GRCh37]
Chr16:16p11.2		 likely pathogenic
GRCh37/hg19 16p11.2(chr16:29421662-30240227)x3 copy number gain See cases [RCV000510272] Chr16:29421662..30240227 [GRCh37]
Chr16:16p11.2		 likely pathogenic
GRCh37/hg19 16p11.2(chr16:29517698-30243606)x3 copy number gain See cases [RCV000510455] Chr16:29517698..30243606 [GRCh37]
Chr16:16p11.2		 likely pathogenic
GRCh37/hg19 16p11.2(chr16:29567295-30177240)x1 copy number loss See cases [RCV000511917] Chr16:29567295..30177240 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
GRCh37/hg19 16p11.2(chr16:29567295-30243606)x1 copy number loss See cases [RCV000511706] Chr16:29567295..30243606 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:28441538-30178406)x1 copy number loss See cases [RCV000511533] Chr16:28441538..30178406 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29591078-30302348)x3 copy number gain See cases [RCV000511723] Chr16:29591078..30302348 [GRCh37]
Chr16:16p11.2		 likely pathogenic
GRCh37/hg19 16p11.2(chr16:29421694-30240227)x3 copy number gain See cases [RCV000511586] Chr16:29421694..30240227 [GRCh37]
Chr16:16p11.2		 likely pathogenic
GRCh37/hg19 16p11.2(chr16:29567296-30177807)x1 copy number loss See cases [RCV000511641] Chr16:29567296..30177807 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29580020-30177240)x3 copy number gain See cases [RCV000511833] Chr16:29580020..30177240 [GRCh37]
Chr16:16p11.2		 likely pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21596299-30399167)x1 copy number loss See cases [RCV000511271] Chr16:21596299..30399167 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29591078-30177240)x3 copy number gain See cases [RCV000511274] Chr16:29591078..30177240 [GRCh37]
Chr16:16p11.2		 likely pathogenic
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29567296-30178406)x1 copy number loss See cases [RCV000511288] Chr16:29567296..30178406 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29580020-30191848)x3 copy number gain See cases [RCV000511005] Chr16:29580020..30191848 [GRCh37]
Chr16:16p11.2		 likely pathogenic
GRCh37/hg19 16p11.2(chr16:29592783-30190568) copy number loss Obesity [RCV000626508] Chr16:29592783..30190568 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29673203-30133233) copy number loss Proximal 16p11.2 microdeletion syndrome [RCV000767613] Chr16:29673203..30133233 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29656684-30197341) copy number gain Abnormality of the eye [RCV000626509] Chr16:29656684..30197341 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_002720.3(PPP4C):c.508T>G (p.Ser170Ala) single nucleotide variant Inborn genetic diseases [RCV003249900] Chr16:30083685 [GRCh38]
Chr16:30095006 [GRCh37]
Chr16:16p11.2		 uncertain significance
NC_000016.10:g.(?_30066878)_(30188596_?)del deletion Severe combined immunodeficiency due to CORO1A deficiency [RCV000651712] Chr16:30066878..30188596 [GRCh38]
Chr16:30078199..30199917 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29580610-30177240)x1 copy number loss See cases [RCV000512604] Chr16:29580610..30177240 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29567296-30177916)x1 copy number loss See cases [RCV000512297] Chr16:29567296..30177916 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29591078-30177807)x3 copy number gain See cases [RCV000512427] Chr16:29591078..30177807 [GRCh37]
Chr16:16p11.2		 likely pathogenic
GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3 copy number gain See cases [RCV000512428] Chr16:18238275..30177240 [GRCh37]
Chr16:16p12.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p11.2(chr16:29571474-30243606)x3 copy number gain See cases [RCV000512481] Chr16:29571474..30243606 [GRCh37]
Chr16:16p11.2		 likely pathogenic
GRCh37/hg19 16p11.2(chr16:29383808-30190029)x1 copy number loss not provided [RCV000683807] Chr16:29383808..30190029 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29432212-30191848)x1 copy number loss not provided [RCV000683808] Chr16:29432212..30191848 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29432212-30339520)x1 copy number loss not provided [RCV000683809] Chr16:29432212..30339520 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29351826-30332071)x1 copy number loss not provided [RCV000683806] Chr16:29351826..30332071 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29567295-30177916)x1 copy number loss not provided [RCV000683810] Chr16:29567295..30177916 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29567295-30240227)x3 copy number gain not provided [RCV000683811] Chr16:29567295..30240227 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29567295-30344958)x1 copy number loss not provided [RCV000683812] Chr16:29567295..30344958 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29580020-30178406)x1 copy number loss not provided [RCV000683813] Chr16:29580020..30178406 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29580020-30191848)x3 copy number gain not provided [RCV000683814] Chr16:29580020..30191848 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29591078-30243606)x3 copy number gain not provided [RCV000683815] Chr16:29591078..30243606 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29608323-30177240)x3 copy number gain not provided [RCV000683816] Chr16:29608323..30177240 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29652999-30197341)x1 copy number loss not provided [RCV000683817] Chr16:29652999..30197341 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p11.2(chr16:29675050-30200008)x1 copy number loss not provided [RCV001532338] Chr16:29675050..30200008 [GRCh37]
Chr16:16p11.2		 pathogenic
Single allele duplication Schizophrenia [RCV000754184] Chr16:29480853..30254620 [GRCh38]
Chr16:16p11.2		 pathogenic
Single allele duplication Schizophrenia [RCV000754186] Chr16:29614026..30184960 [GRCh38]
Chr16:16p11.2		 pathogenic
NC_000016.10:g.(?_29627836)_(30184960_?)del deletion Schizophrenia [RCV000754187] Chr16:29627836..30184960 [GRCh38]
Chr16:16p11.2		 pathogenic
Single allele duplication Schizophrenia [RCV000754188] Chr16:29627836..30184960 [GRCh38]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29501094-30198151)x3 copy number gain not provided [RCV000739116] Chr16:29501094..30198151 [GRCh37]
Chr16:16p11.2		 likely benign
GRCh37/hg19 16p11.2(chr16:29589153-30198151)x3 copy number gain not provided [RCV000739117] Chr16:29589153..30198151 [GRCh37]
Chr16:16p11.2		 uncertain significance
Single allele duplication Autism [RCV000754182] Chr16:29401125..30312960 [GRCh38]
Chr16:16p11.2		 pathogenic
NC_000016.10:g.(?_29480853)_(30254620_?)del deletion Autism [RCV000754183] Chr16:29480853..30254620 [GRCh38]
Chr16:16p11.2		 pathogenic
Single allele duplication Autism [RCV000754185] Chr16:29553914..30184960 [GRCh38]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29595483-30198151)x3 copy number gain not provided [RCV000739119] Chr16:29595483..30198151 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29640910-30198319)x3 copy number gain not provided [RCV000739120] Chr16:29640910..30198319 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:29644174-30192561)x3 copy number gain not provided [RCV000739121] Chr16:29644174..30192561 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:29647342-30192561)x3 copy number gain not provided [RCV000739122] Chr16:29647342..30192561 [GRCh37]
Chr16:16p11.2		 uncertain significance
Single allele duplication Autism [RCV000754189] Chr16:29640511..30184960 [GRCh38]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29565626-30221925)x1 copy number loss See cases [RCV001564036] Chr16:29565626..30221925 [GRCh37]
Chr16:16p11.2		 pathogenic
16p11.2 recurrent region (BP4-BP5) deletion Proximal 16p11.2 microdeletion syndrome [RCV000034307] Chr16:29638676..30188531 [GRCh38]
Chr16:29649997..30199852 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29656093-30192561)x3 copy number gain not provided [RCV000751641] Chr16:29656093..30192561 [GRCh37]
Chr16:16p11.2		 uncertain significance
Single allele deletion Chromosome 16p11.2 duplication syndrome [RCV002280356] Chr16:29663598..30188229 [GRCh38]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29827174-30198041) copy number gain Chromosome 16p11.2 duplication syndrome [RCV000767618] Chr16:29827174..30198041 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29595483-30199713) copy number loss Proximal 16p11.2 microdeletion syndrome [RCV000767658] Chr16:29595483..30199713 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29674336-30198123)x1 copy number loss Proximal 16p11.2 microdeletion syndrome [RCV000856638] Chr16:29674336..30198123 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29673203-30199713) copy number loss Proximal 16p11.2 microdeletion syndrome [RCV000767696] Chr16:29673203..30199713 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29678569-30199402) copy number loss Proximal 16p11.2 microdeletion syndrome [RCV000767614] Chr16:29678569..30199402 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29678569-30199578) copy number gain Chromosome 16p11.2 duplication syndrome [RCV000767615] Chr16:29678569..30199578 [GRCh37]
Chr16:16p11.2		 pathogenic
NC_000016.10:g.(?_30066878)_(30188984_?)del deletion Severe combined immunodeficiency due to CORO1A deficiency [RCV000815913] Chr16:30066878..30188984 [GRCh38]
Chr16:30078199..30200305 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29674336-30199351)x1 copy number loss Proximal 16p11.2 microdeletion syndrome [RCV000856637] Chr16:29674336..30199351 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29042050-30199025) copy number loss Proximal 16p11.2 microdeletion syndrome [RCV000767610] Chr16:29042050..30199025 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29532264-30271237) copy number gain Chromosome 16p11.2 duplication syndrome [RCV000767611] Chr16:29532264..30271237 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29595483-30199713) copy number gain Chromosome 16p11.2 duplication syndrome [RCV000767612] Chr16:29595483..30199713 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29580020-30177999) copy number loss Proximal 16p11.2 microdeletion syndrome [RCV002280630] Chr16:29580020..30177999 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29567295-30177916) copy number loss Rokitansky sequence [RCV002280626] Chr16:29567295..30177916 [GRCh37]
Chr16:16p11.2		 pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787396] Chr16:29656717..30158469 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:28466730-30177916)x1 copy number loss not provided [RCV000848428] Chr16:28466730..30177916 [GRCh37]
Chr16:16p11.2		 pathogenic
NC_000016.9:g.(?_30078199)_(30200305_?)dup duplication Severe combined immunodeficiency due to CORO1A deficiency [RCV000808632] Chr16:30066878..30188984 [GRCh38]
Chr16:30078199..30200305 [GRCh37]
Chr16:16p11.2		 uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787384] Chr16:29656657..30158469 [GRCh37]
Chr16:16p11.2		 likely pathogenic
GRCh37/hg19 16p11.2(chr16:29595483-30198151)x1 copy number loss See cases [RCV000790564] Chr16:29595483..30198151 [GRCh37]
Chr16:16p11.2		 pathogenic
Single allele duplication Neurodevelopmental disorder [RCV000787386] Chr16:29526295..30106669 [GRCh37]
Chr16:16p11.2		 likely pathogenic
GRCh37/hg19 16p11.2(chr16:28466730-30178406)x1 copy number loss not provided [RCV001006789] Chr16:28466730..30178406 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29432212-30177240)x1 copy number loss not provided [RCV001006791] Chr16:29432212..30177240 [GRCh37]
Chr16:16p11.2		 pathogenic
Single allele deletion Proximal 16p11.2 microdeletion syndrome [RCV001250752] Chr16:29446604..30218886 [GRCh37]
Chr16:16p11.2		 risk factor
GRCh37/hg19 16p11.2(chr16:29595483-30215621)x1 copy number loss See cases [RCV001194595] Chr16:29595483..30215621 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29675050-30218384)x1 copy number loss not provided [RCV003312363] Chr16:29675050..30218384 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:28466730-30191848)x1 copy number loss not provided [RCV000846340] Chr16:28466730..30191848 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:28466731-30321320)x1 copy number loss not provided [RCV002472634] Chr16:28466731..30321320 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29622758-30240227)x3 copy number gain not provided [RCV002472648] Chr16:29622758..30240227 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29567296-30240227)x3 copy number gain not provided [RCV002473789] Chr16:29567296..30240227 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29567296-30240227)x1 copy number loss not provided [RCV002473793] Chr16:29567296..30240227 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29432212-30178406)x1 copy number loss not provided [RCV001006792] Chr16:29432212..30178406 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29675050-30218221)x1 copy number loss not provided [RCV001532339] Chr16:29675050..30218221 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001) copy number gain Microcephaly [RCV001252948] Chr16:5805001..34230001 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29580020-30177916) copy number loss Proximal 16p11.2 microdeletion syndrome [RCV002280642] Chr16:29580020..30177916 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29615859-30199454)x1 copy number loss not provided [RCV001537891] Chr16:29615859..30199454 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:28488319-30178406)x1 copy number loss not provided [RCV001258616] Chr16:28488319..30178406 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29652999-30197341) copy number gain Severe sensorineural hearing impairment [RCV001291951] Chr16:29652999..30197341 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29592797-30190593)x3 copy number gain See cases [RCV001263060] Chr16:29592797..30190593 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29383808-30177240)x3 copy number gain not provided [RCV001258617] Chr16:29383808..30177240 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 copy number gain See cases [RCV001263169] Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic|likely pathogenic
GRCh37/hg19 16p11.2(chr16:29448001-30302100) copy number gain See cases [RCV001263033] Chr16:29448001..30302100 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29443322-30320321)x3 copy number gain not provided [RCV001281364] Chr16:29443322..30320321 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29673954-30198600) copy number gain Autism [RCV001291991] Chr16:29673954..30198600 [GRCh37]
Chr16:16p11.2		 pathogenic
NC_000016.9:g.(?_29802081)_(30200285_?)dup duplication Episodic kinesigenic dyskinesia [RCV001325791] Chr16:29802081..30200285 [GRCh37]
Chr16:16p11.2		 uncertain significance
NC_000016.9:g.(?_29802081)_(30199917_?)dup duplication Episodic kinesigenic dyskinesia [RCV003120586]|HNSHA due to aldolase A deficiency [RCV001373865]|Severe combined immunodeficiency due to CORO1A deficiency [RCV001865862] Chr16:29802081..30199917 [GRCh37]
Chr16:16p11.2		 uncertain significance
NC_000016.9:g.(?_29802081)_(30199917_?)del deletion Episodic kinesigenic dyskinesia [RCV003120582]|HNSHA due to aldolase A deficiency [RCV001865861]|Severe combined immunodeficiency due to CORO1A deficiency [RCV001388031]|not provided [RCV001362947] Chr16:29802081..30199917 [GRCh37]
Chr16:16p11.2		 pathogenic|uncertain significance|no classifications from unflagged records
GRCh37/hg19 16p11.2(chr16:29652999-30198600) copy number loss Abnormal fetal cardiovascular morphology [RCV001291971] Chr16:29652999..30198600 [GRCh37]
Chr16:16p11.2		 pathogenic
Single allele deletion Proximal 16p11.2 microdeletion syndrome [RCV001391671] Chr16:29675044..30212202 [GRCh37]
Chr16:16p11.2		 pathogenic
NC_000016.9:g.(?_29802081)_(30200285_?)del deletion Episodic kinesigenic dyskinesia [RCV001388947] Chr16:29802081..30200285 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29545794-30307472)x1 copy number loss See cases [RCV001526481] Chr16:29545794..30307472 [GRCh37]
Chr16:16p11.2		 pathogenic
NC_000016.10:g.29640592_30187862del deletion Proximal 16p11.2 microdeletion syndrome [RCV003313807] Chr16:29640592..30187862 [GRCh38]
Chr16:16p11.2		 pathogenic|likely pathogenic
GRCh37/hg19 16p11.2(chr16:29675000-30199844)x1 copy number loss Distal 16p11.2 microdeletion syndrome [RCV001801175] Chr16:29675000..30199844 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29464904-30233799)x3 copy number gain Distal 16p11.2 microdeletion syndrome [RCV001801184] Chr16:29464904..30233799 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29974415-30596982)x1 copy number loss Distal 16p11.2 microdeletion syndrome [RCV001801174] Chr16:29974415..30596982 [GRCh37]
Chr16:16p11.2		 likely pathogenic
GRCh37/hg19 16p11.2(chr16:29511270-30199844)x1 copy number loss Distal 16p11.2 microdeletion syndrome [RCV001801199] Chr16:29511270..30199844 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29808153-30750270)x3 copy number gain Chromosome 16p11.2 duplication syndrome [RCV001801218] Chr16:29808153..30750270 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29606372-30199622)x1 copy number loss not provided [RCV001795548] Chr16:29606372..30199622 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29675000-30200058)x3 copy number gain 16p11.2p12.2 microduplication syndrome [RCV001801208] Chr16:29675000..30200058 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29591078-30177240) copy number gain Chromosome 16p11.2 duplication syndrome [RCV002280691] Chr16:29591078..30177240 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29675000-30200335)x3 copy number gain Distal 16p11.2 microdeletion syndrome [RCV001801225] Chr16:29675000..30200335 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29590554-30197341)x3 copy number gain 16p11.2 duplication syndrome [RCV001801338] Chr16:29590554..30197341 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29511270-30200335)x1 copy number loss Distal 16p11.2 microdeletion syndrome [RCV001801183] Chr16:29511270..30200335 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29678569-30198121)x1 copy number loss not provided [RCV001825159] Chr16:29678569..30198121 [GRCh37]
Chr16:16p11.2		 not provided
GRCh37/hg19 16p11.2(chr16:29591078-30177240)x3 copy number gain Chromosome 16p11.2 duplication syndrome [RCV001825332] Chr16:29591078..30177240 [GRCh37]
Chr16:16p11.2		 not provided
GRCh37/hg19 16p11.2(chr16:29567295-30320307)x1 copy number loss Chromosome 16p11.2 duplication syndrome [RCV001825333] Chr16:29567295..30320307 [GRCh37]
Chr16:16p11.2		 not provided
GRCh37/hg19 16p11.2(chr16:29601322-30201321)x1 copy number loss See cases [RCV002246172] Chr16:29601322..30201321 [GRCh37]
Chr16:16p11.2		 pathogenic
NC_000016.10:g.(29449194_29595531)_(30188533_30335547)del deletion See cases [RCV002227010] Chr16:29595531..30188533 [GRCh38]
Chr16:16p11.2		 likely pathogenic|low penetrance
GRCh37/hg19 16p11.2(chr16:29495011-30206548) copy number loss Infantile convulsions and choreoathetosis [RCV003236744] Chr16:29495011..30206548 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29567295-30178406) copy number loss Proximal 16p11.2 microdeletion syndrome [RCV002280664] Chr16:29567295..30178406 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29674300-30200008)x1 copy number loss not provided [RCV002262529] Chr16:29674300..30200008 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29628661-30306955) copy number gain Chromosome 16p11.2 duplication syndrome [RCV002280688] Chr16:29628661..30306955 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3 copy number gain not provided [RCV002472599] Chr16:4380767..30445350 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29432213-30240227)x1 copy number loss not provided [RCV002473521] Chr16:29432213..30240227 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21576803-30177240)x3 copy number gain not provided [RCV002474541] Chr16:21576803..30177240 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29670770-30207956)x3 copy number gain Chromosome 16p11.2 duplication syndrome [RCV002509008] Chr16:29670770..30207956 [GRCh37]
Chr16:16p11.2		 not provided
GRCh37/hg19 16p11.2(chr16:29651706-30193525)x1 copy number loss Proximal 16p11.2 microdeletion syndrome [RCV002508992] Chr16:29651706..30193525 [GRCh37]
Chr16:16p11.2		 not provided
GRCh38/hg38 16p11.2(chr16:29653297-30181026) copy number loss See cases [RCV003223561] Chr16:29653297..30181026 [GRCh38]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29656684-30197341)x1 copy number loss Proximal 16p11.2 microdeletion syndrome [RCV003322581] Chr16:29656684..30197341 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29517464-30199839)x1 copy number loss Distal 16p11.2 microdeletion syndrome [RCV003329536] Chr16:29517464..30199839 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29517464-30200058)x3 copy number gain Distal 16p11.2 microdeletion syndrome [RCV003329525] Chr16:29517464..30200058 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29517464-30200058)x1 copy number loss Distal 16p11.2 microdeletion syndrome [RCV003329542] Chr16:29517464..30200058 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29511270-30243006)x1 copy number loss BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV003329517] Chr16:29511270..30243006 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29674568-30199897)x3 copy number gain not provided [RCV003334193] Chr16:29674568..30199897 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29517698-30191848)x1 copy number loss not provided [RCV003483289] Chr16:29517698..30191848 [GRCh37]
Chr16:16p11.2		 pathogenic
Single allele duplication not provided [RCV003448664] Chr16:29651786..30199024 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29343245-30240227)x1 copy number loss not provided [RCV003483285] Chr16:29343245..30240227 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29432213-30226930)x1 copy number loss not provided [RCV003483288] Chr16:29432213..30226930 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29495010-30212427)x1 copy number loss not provided [RCV003456961] Chr16:29495010..30212427 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29597823-30321320)x3 copy number gain not provided [RCV003485111] Chr16:29597823..30321320 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29654589-30177240)x3 copy number gain not provided [RCV003485112] Chr16:29654589..30177240 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29589674-30226930)x1 copy number loss not provided [RCV003483290] Chr16:29589674..30226930 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29329272-30178707)x1 copy number loss Proximal 16p11.2 microdeletion syndrome [RCV003883244] Chr16:29329272..30178707 [GRCh38]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29642391-30204353) copy number loss Epilepsy syndrome [RCV003986077] Chr16:29642391..30204353 [GRCh38]
Chr16:16p11.2		 pathogenic|low penetrance
GRCh37/hg19 16p11.2(chr16:29427215-30177240)x1 copy number loss not specified [RCV003987165] Chr16:29427215..30177240 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29383808-30191848)x1 copy number loss not specified [RCV003987159] Chr16:29383808..30191848 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29432212-30178406)x1 copy number loss not specified [RCV003987145] Chr16:29432212..30178406 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29495010-30200397)x1 copy number loss not provided [RCV003885480] Chr16:29495010..30200397 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29472703-30256894)x1 copy number loss not provided [RCV003885479] Chr16:29472703..30256894 [GRCh37]
Chr16:16p11.2		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4440
Count of miRNA genes:1015
Interacting mature miRNAs:1294
Transcripts:ENST00000279387, ENST00000561610, ENST00000562222, ENST00000562664, ENST00000563200, ENST00000563597, ENST00000563732, ENST00000564966, ENST00000566749, ENST00000567040, ENST00000567642, ENST00000567828, ENST00000568810
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D16S3225  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371630,096,446 - 30,096,561UniSTSGRCh37
Build 361630,003,947 - 30,004,062RGDNCBI36
Celera1672,699,158 - 72,699,273RGD
Cytogenetic Map16p11.2UniSTS
HuRef1627,757,715 - 27,757,831UniSTS
RH70885  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371630,096,450 - 30,096,595UniSTSGRCh37
Build 361630,003,951 - 30,004,096RGDNCBI36
Celera1672,699,124 - 72,699,269RGD
Cytogenetic Map16p11.2UniSTS
HuRef1627,757,719 - 27,757,865UniSTS
D20S1002  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371630,096,099 - 30,096,153UniSTSGRCh37
Build 361630,003,600 - 30,003,654RGDNCBI36
Celera1672,699,566 - 72,699,620RGD
Cytogenetic Map16p11.2UniSTS
HuRef1627,757,368 - 27,757,422UniSTS
PPP4C_8558  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371630,096,299 - 30,096,888UniSTSGRCh37
Build 361630,003,800 - 30,004,389RGDNCBI36
Celera1672,698,831 - 72,699,420RGD
HuRef1627,757,568 - 27,758,158UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1
Medium 2439 2944 1724 622 1950 464 4357 2154 3618 418 1458 1612 175 1 1204 2788 6 1
Low 47 2 2 1 1 43 116 1 1 1 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001303503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001303504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001303506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001303507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006721061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054313409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA765831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC243947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF097996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL519181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG705710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG706310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG741669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ220878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X70218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000279387   ⟹   ENSP00000279387
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,075,994 - 30,085,376 (+)Ensembl
RefSeq Acc Id: ENST00000561610   ⟹   ENSP00000455995
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,076,225 - 30,085,318 (+)Ensembl
RefSeq Acc Id: ENST00000562222   ⟹   ENSP00000457915
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,076,032 - 30,084,773 (+)Ensembl
RefSeq Acc Id: ENST00000562664   ⟹   ENSP00000457089
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,076,018 - 30,085,041 (+)Ensembl
RefSeq Acc Id: ENST00000563200
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,076,007 - 30,085,347 (+)Ensembl
RefSeq Acc Id: ENST00000563597   ⟹   ENSP00000458079
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,076,005 - 30,083,780 (+)Ensembl
RefSeq Acc Id: ENST00000563732   ⟹   ENSP00000455394
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,075,978 - 30,084,779 (+)Ensembl
RefSeq Acc Id: ENST00000564966
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,076,007 - 30,083,567 (+)Ensembl
RefSeq Acc Id: ENST00000566749   ⟹   ENSP00000461609
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,076,017 - 30,085,371 (+)Ensembl
RefSeq Acc Id: ENST00000567040
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,076,000 - 30,083,805 (+)Ensembl
RefSeq Acc Id: ENST00000567642
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,076,029 - 30,081,689 (+)Ensembl
RefSeq Acc Id: ENST00000567828
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,076,024 - 30,082,984 (+)Ensembl
RefSeq Acc Id: ENST00000568810
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,076,001 - 30,083,467 (+)Ensembl
RefSeq Acc Id: ENST00000627746   ⟹   ENSP00000486140
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,076,023 - 30,085,356 (+)Ensembl
RefSeq Acc Id: NM_001303503   ⟹   NP_001290432
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381630,075,994 - 30,085,376 (+)NCBI
CHM1_11631,303,054 - 31,312,455 (+)NCBI
T2T-CHM13v2.01630,358,641 - 30,368,019 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001303504   ⟹   NP_001290433
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381630,075,994 - 30,085,376 (+)NCBI
CHM1_11631,303,054 - 31,312,455 (+)NCBI
T2T-CHM13v2.01630,358,641 - 30,368,019 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001303506   ⟹   NP_001290435
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381630,075,994 - 30,085,376 (+)NCBI
CHM1_11631,303,054 - 31,312,455 (+)NCBI
T2T-CHM13v2.01630,358,641 - 30,368,019 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001303507   ⟹   NP_001290436
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381630,075,994 - 30,085,376 (+)NCBI
CHM1_11631,303,054 - 31,312,455 (+)NCBI
T2T-CHM13v2.01630,358,641 - 30,368,019 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002720   ⟹   NP_002711
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381630,075,994 - 30,085,376 (+)NCBI
GRCh371630,087,297 - 30,096,698 (+)NCBI
Build 361629,994,886 - 30,004,196 (+)NCBI Archive
HuRef1627,748,654 - 27,757,965 (+)ENTREZGENE
CHM1_11631,303,054 - 31,312,455 (+)NCBI
T2T-CHM13v2.01630,358,641 - 30,368,019 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006721061   ⟹   XP_006721124
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381630,075,994 - 30,085,376 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054313409   ⟹   XP_054169384
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01630,358,641 - 30,368,019 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_002711   ⟸   NM_002720
- Peptide Label: isoform 1
- UniProtKB: P33172 (UniProtKB/Swiss-Prot),   P60510 (UniProtKB/Swiss-Prot),   A0A024R625 (UniProtKB/TrEMBL),   Q5U086 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006721124   ⟸   XM_006721061
- Peptide Label: isoform X1
- UniProtKB: H3BTA2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001290432   ⟸   NM_001303503
- Peptide Label: isoform 1
- UniProtKB: P33172 (UniProtKB/Swiss-Prot),   P60510 (UniProtKB/Swiss-Prot),   A0A024R625 (UniProtKB/TrEMBL),   Q5U086 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001290435   ⟸   NM_001303506
- Peptide Label: isoform 3
- UniProtKB: H3BTA2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001290433   ⟸   NM_001303504
- Peptide Label: isoform 2
- UniProtKB: H3BTA2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001290436   ⟸   NM_001303507
- Peptide Label: isoform 3
- UniProtKB: H3BTA2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000486140   ⟸   ENST00000627746
RefSeq Acc Id: ENSP00000455995   ⟸   ENST00000561610
RefSeq Acc Id: ENSP00000457915   ⟸   ENST00000562222
RefSeq Acc Id: ENSP00000457089   ⟸   ENST00000562664
RefSeq Acc Id: ENSP00000458079   ⟸   ENST00000563597
RefSeq Acc Id: ENSP00000455394   ⟸   ENST00000563732
RefSeq Acc Id: ENSP00000461609   ⟸   ENST00000566749
RefSeq Acc Id: ENSP00000279387   ⟸   ENST00000279387
RefSeq Acc Id: XP_054169384   ⟸   XM_054313409
- Peptide Label: isoform X1
Protein Domains
Serine/threonine specific protein phosphatases

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P60510-F1-model_v2 AlphaFold P60510 1-307 view protein structure

Promoters
RGD ID:6793408
Promoter ID:HG_KWN:23505
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000255155,   UC002DWE.1,   UC002DWG.1,   UC002DWH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361629,993,866 - 29,994,797 (+)MPROMDB
RGD ID:6852864
Promoter ID:EP74249
Type:initiation region
Name:HS_PPP4C
Description:Protein phosphatase 4 (formerly X), catalytic subunit.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 361629,994,853 - 29,994,913EPD
RGD ID:7231925
Promoter ID:EPDNEW_H21707
Type:initiation region
Name:PPP4C_1
Description:protein phosphatase 4 catalytic subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381630,076,003 - 30,076,063EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9319 AgrOrtholog
COSMIC PPP4C COSMIC
Ensembl Genes ENSG00000149923 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000279387 ENTREZGENE
  ENST00000279387.12 UniProtKB/Swiss-Prot
  ENST00000561610.1 UniProtKB/Swiss-Prot
  ENST00000562222.5 UniProtKB/TrEMBL
  ENST00000562664 ENTREZGENE
  ENST00000562664.5 UniProtKB/TrEMBL
  ENST00000563597.5 UniProtKB/TrEMBL
  ENST00000563732.5 UniProtKB/TrEMBL
  ENST00000566749.5 UniProtKB/TrEMBL
  ENST00000627746.2 UniProtKB/TrEMBL
Gene3D-CATH 3.60.21.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000149923 GTEx
HGNC ID HGNC:9319 ENTREZGENE
Human Proteome Map PPP4C Human Proteome Map
InterPro Calcineurin-like_PHP_ApaH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Metallo-depent_PP-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PPA2-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser/Thr-sp_prot-phosphatase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5531 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5531 ENTREZGENE
OMIM 602035 OMIM
PANTHER SERINE/THREONINE-PROTEIN PHOSPHATASE 4 CATALYTIC SUBUNIT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SERINE/THREONINE-PROTEIN PHOSPHATASE PP2A-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Metallophos UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33683 PharmGKB
PRINTS STPHPHTASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE SER_THR_PHOSPHATASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PP2Ac UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R625 ENTREZGENE, UniProtKB/TrEMBL
  H3BPN5_HUMAN UniProtKB/TrEMBL
  H3BTA2 ENTREZGENE, UniProtKB/TrEMBL
  H3BV22_HUMAN UniProtKB/TrEMBL
  H3BVE3_HUMAN UniProtKB/TrEMBL
  I3L4X0_HUMAN UniProtKB/TrEMBL
  P33172 ENTREZGENE
  P60510 ENTREZGENE, UniProtKB/Swiss-Prot
  Q5U086 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary P33172 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 PPP4C  protein phosphatase 4 catalytic subunit    protein phosphatase 4, catalytic subunit  Symbol and/or name change 5135510 APPROVED
2011-07-27 PPP4C  protein phosphatase 4, catalytic subunit  PPP4C  protein phosphatase 4 (formerly X), catalytic subunit  Symbol and/or name change 5135510 APPROVED