BMERB1 (bMERB domain containing 1) - Rat Genome Database

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Gene: BMERB1 (bMERB domain containing 1) Homo sapiens
Analyze
Symbol: BMERB1
Name: bMERB domain containing 1
RGD ID: 1345550
HGNC Page HGNC:19213
Description: Predicted to be involved in negative regulation of microtubule depolymerization. Predicted to act upstream of or within negative regulation of cell motility involved in cerebral cortex radial glia guided migration. Predicted to be active in microtubule cytoskeleton.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: bMERB domain-containing protein 1; C16orf45; chromosome 16 open reading frame 45; FLJ32618; hypothetical protein LOC89927; MINP; uncharacterized protein C16orf45
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
GRCh381615,434,588 - 15,588,259 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1615,434,475 - 15,625,028 (+)EnsemblGRCh38hg38GRCh38
GRCh371615,528,445 - 15,682,116 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361615,435,826 - 15,589,418 (+)NCBINCBI36Build 36hg18NCBI36
Build 341615,435,825 - 15,589,418NCBI
Celera1615,208,794 - 15,362,586 (+)NCBICelera
Cytogenetic Map16p13.11NCBI
HuRef1614,921,797 - 15,075,991 (+)NCBIHuRef
CHM1_11615,612,671 - 15,766,478 (+)NCBICHM1_1
T2T-CHM13v2.01615,439,375 - 15,593,064 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease 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
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
2. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:10493829   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16169070   PMID:17207965   PMID:21873635   PMID:24722188   PMID:24823311   PMID:25099998   PMID:25416956   PMID:27552051  
PMID:28514442   PMID:28986522   PMID:29117863   PMID:33845483   PMID:33961781  


Genomics

Comparative Map Data
BMERB1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381615,434,588 - 15,588,259 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1615,434,475 - 15,625,028 (+)EnsemblGRCh38hg38GRCh38
GRCh371615,528,445 - 15,682,116 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361615,435,826 - 15,589,418 (+)NCBINCBI36Build 36hg18NCBI36
Build 341615,435,825 - 15,589,418NCBI
Celera1615,208,794 - 15,362,586 (+)NCBICelera
Cytogenetic Map16p13.11NCBI
HuRef1614,921,797 - 15,075,991 (+)NCBIHuRef
CHM1_11615,612,671 - 15,766,478 (+)NCBICHM1_1
T2T-CHM13v2.01615,439,375 - 15,593,064 (+)NCBIT2T-CHM13v2.0
Bmerb1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391613,802,975 - 13,922,916 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1613,804,468 - 13,919,364 (+)EnsemblGRCm39 Ensembl
GRCm381613,986,612 - 14,105,052 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1613,986,604 - 14,101,500 (+)EnsemblGRCm38mm10GRCm38
MGSCv371613,986,730 - 14,101,587 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361613,900,239 - 14,014,865 (+)NCBIMGSCv36mm8
Celera1614,591,870 - 14,707,984 (+)NCBICelera
Cytogenetic Map16A1NCBI
cM Map169.66NCBI
Bmerb1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8102,286,999 - 2,453,890 (-)NCBIGRCr8
mRatBN7.2101,779,834 - 1,946,586 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl101,779,835 - 1,946,575 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx106,476,673 - 6,643,420 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01033,922,423 - 34,089,180 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0101,683,266 - 1,849,924 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0103,411,380 - 3,570,689 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl103,411,380 - 3,570,688 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0102,286,728 - 2,443,753 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41072,759 - 187,515 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11072,758 - 187,514 (+)NCBI
Celera10824,575 - 981,223 (-)NCBICelera
Cytogenetic Map10q11NCBI
Bmerb1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955442314,486 - 442,088 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955442317,334 - 442,514 (+)NCBIChiLan1.0ChiLan1.0
BMERB1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21815,486,464 - 15,644,479 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11619,269,638 - 19,427,230 (+)NCBINHGRI_mPanPan1
PanPan1.11615,737,496 - 15,893,578 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1615,737,850 - 15,892,145 (+)Ensemblpanpan1.1panPan2
BMERB1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1628,242,190 - 28,356,218 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl628,225,677 - 28,357,180 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha629,588,559 - 29,719,248 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0628,388,572 - 28,518,953 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl628,404,443 - 28,518,923 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1628,191,663 - 28,322,094 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0628,081,920 - 28,212,193 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0628,487,151 - 28,617,926 (-)NCBIUU_Cfam_GSD_1.0
Bmerb1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344114,965,996 - 115,045,025 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365013,063,617 - 3,143,028 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365013,063,861 - 3,142,680 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BMERB1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl37,248,827 - 7,387,518 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.137,248,806 - 7,387,523 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
BMERB1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1514,434,349 - 14,600,624 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl514,434,365 - 14,600,935 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606815,440,391 - 15,607,435 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Bmerb1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478275,066 - 184,590 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478275,141 - 184,590 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in BMERB1
11 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16p13.11(chr16:14874998-16100721)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050356]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050356]|See cases [RCV000050356] Chr16:14874998..16100721 [GRCh38]
Chr16:14968855..16194578 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14874998-16100721)x3 copy number gain See cases [RCV000050353] Chr16:14874998..16100721 [GRCh38]
Chr16:14968855..16194578 [GRCh37]
Chr16:14876356..16102079 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14954894-16100721)x1 copy number loss See cases [RCV000050779] Chr16:14954894..16100721 [GRCh38]
Chr16:15048751..16194578 [GRCh37]
Chr16:14956252..16102079 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:14816348-18047194)x1 copy number loss See cases [RCV000050818] Chr16:14816348..18047194 [GRCh38]
Chr16:14910205..18141051 [GRCh37]
Chr16:14817706..18048552 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:14816348-18658403)x1 copy number loss See cases [RCV000050970] Chr16:14816348..18658403 [GRCh38]
Chr16:14910205..18669725 [GRCh37]
Chr16:14817706..18577226 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11(chr16:14816348-16431491)x3 copy number gain See cases [RCV000050861] Chr16:14816348..16431491 [GRCh38]
Chr16:14910205..16525348 [GRCh37]
Chr16:14817706..16432849 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14816348-16431491)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050863]|Hyperactivity [RCV000050864]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050863]|See cases [RCV000050863] Chr16:14816348..16431491 [GRCh38]
Chr16:14910205..16525348 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14954894-16100721)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050778]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050778]|See cases [RCV000050778] Chr16:14954894..16100721 [GRCh38]
Chr16:15048751..16194578 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15310595-18212997)x3 copy number gain See cases [RCV000050601] Chr16:15310595..18212997 [GRCh38]
Chr16:15404452..18306854 [GRCh37]
Chr16:15311953..18214355 [NCBI36]
Chr16:16p13.11-12.3		 likely pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 16p13.11(chr16:15457445-16100721)x3 copy number gain See cases [RCV000050720] Chr16:15457445..16100721 [GRCh38]
Chr16:15551302..16194578 [GRCh37]
Chr16:15458803..16102079 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:15457445-16100721)x1 copy number loss See cases [RCV000050722] Chr16:15457445..16100721 [GRCh38]
Chr16:15551302..16194578 [GRCh37]
Chr16:15458803..16102079 [NCBI36]
Chr16:16p13.11		 pathogenic|conflicting data from submitters
GRCh38/hg38 16p13.11(chr16:14874998-16034020)x3 copy number gain Cleft upper lip [RCV000050367]|See cases [RCV000050367] Chr16:14874998..16034020 [GRCh38]
Chr16:14968855..16127877 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15457445-18047194)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050377]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050377]|See cases [RCV000050377] Chr16:15457445..18047194 [GRCh38]
Chr16:15551302..18141051 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.12-13.11(chr16:14668382-16678513)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051357]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051357]|See cases [RCV000051357] Chr16:14668382..16678513 [GRCh38]
Chr16:14762239..16772370 [GRCh37]
Chr16:14669740..16679871 [NCBI36]
Chr16:16p13.12-13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14717194-16450842)x3 copy number gain See cases [RCV000051358] Chr16:14717194..16450842 [GRCh38]
Chr16:14811051..16544699 [GRCh37]
Chr16:14718552..16452200 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14717194-16508540)x3 copy number gain See cases [RCV000051359] Chr16:14717194..16508540 [GRCh38]
Chr16:14811051..16602397 [GRCh37]
Chr16:14718552..16509898 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14816148-16100862)x3 copy number gain See cases [RCV000051360] Chr16:14816148..16100862 [GRCh38]
Chr16:14910005..16194719 [GRCh37]
Chr16:14817506..16102220 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14816148-16431632)x3 copy number gain See cases [RCV000051387] Chr16:14816148..16431632 [GRCh38]
Chr16:14910005..16525489 [GRCh37]
Chr16:14817506..16432990 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14816348-16148900)x3 copy number gain See cases [RCV000051390] Chr16:14816348..16148900 [GRCh38]
Chr16:14910205..16242757 [GRCh37]
Chr16:14817706..16150258 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14816348-16633564)x3 copy number gain See cases [RCV000051392] Chr16:14816348..16633564 [GRCh38]
Chr16:14910205..16727421 [GRCh37]
Chr16:14817706..16634922 [NCBI36]
Chr16:16p13.11		 uncertain significance|conflicting data from submitters
GRCh38/hg38 16p13.11(chr16:14823949-16281234)x3 copy number gain See cases [RCV000051393] Chr16:14823949..16281234 [GRCh38]
Chr16:14917806..16375091 [GRCh37]
Chr16:14825307..16282592 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14850703-16211879)x3 copy number gain See cases [RCV000051396] Chr16:14850703..16211879 [GRCh38]
Chr16:14944560..16305736 [GRCh37]
Chr16:14852061..16213237 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14907656-16206199)x3 copy number gain See cases [RCV000051397] Chr16:14907656..16206199 [GRCh38]
Chr16:15001513..16300056 [GRCh37]
Chr16:14909014..16207557 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14907656-16281234)x3 copy number gain See cases [RCV000051398] Chr16:14907656..16281234 [GRCh38]
Chr16:15001513..16375091 [GRCh37]
Chr16:14909014..16282592 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15050263-18212997)x3 copy number gain See cases [RCV000051399] Chr16:15050263..18212997 [GRCh38]
Chr16:15144120..18306854 [GRCh37]
Chr16:15051621..18214355 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.12-12.3(chr16:14609647-18765817)x3 copy number gain See cases [RCV000051353] Chr16:14609647..18765817 [GRCh38]
Chr16:14703504..18777139 [GRCh37]
Chr16:14611005..18684640 [NCBI36]
Chr16:16p13.12-12.3		 uncertain significance
GRCh38/hg38 16p13.12-13.11(chr16:14639096-16431491)x3 copy number gain See cases [RCV000051354] Chr16:14639096..16431491 [GRCh38]
Chr16:14732953..16525348 [GRCh37]
Chr16:14640454..16432849 [NCBI36]
Chr16:16p13.12-13.11		 uncertain significance
GRCh38/hg38 16p13.12-13.11(chr16:14668182-16493213)x3 copy number gain See cases [RCV000051355] Chr16:14668182..16493213 [GRCh38]
Chr16:14762039..16587070 [GRCh37]
Chr16:14669540..16494571 [NCBI36]
Chr16:16p13.12-13.11		 uncertain significance
GRCh38/hg38 16p13.12-13.11(chr16:14668382-16100721)x3 copy number gain See cases [RCV000051356] Chr16:14668382..16100721 [GRCh38]
Chr16:14762239..16194578 [GRCh37]
Chr16:14669740..16102079 [NCBI36]
Chr16:16p13.12-13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15457445-18658403)x3 copy number gain See cases [RCV000051141] Chr16:15457445..18658403 [GRCh38]
Chr16:15551302..18669725 [GRCh37]
Chr16:15458803..18577226 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14816348-16100721)x3 copy number gain See cases [RCV000051001] Chr16:14816348..16100721 [GRCh38]
Chr16:14910205..16194578 [GRCh37]
Chr16:14817706..16102079 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14816348-16100721)x1 copy number loss See cases [RCV000051002] Chr16:14816348..16100721 [GRCh38]
Chr16:14910205..16194578 [GRCh37]
Chr16:14817706..16102079 [NCBI36]
Chr16:16p13.11		 pathogenic|conflicting data from submitters
GRCh38/hg38 16p13.11-12.3(chr16:15140576-18658403)x1 copy number loss See cases [RCV000051057] Chr16:15140576..18658403 [GRCh38]
Chr16:15234433..18669725 [GRCh37]
Chr16:15141934..18577226 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3 copy number gain See cases [RCV000051828] Chr16:14954894..28306843 [GRCh38]
Chr16:15048751..28318164 [GRCh37]
Chr16:14956252..28225665 [NCBI36]
Chr16:16p13.11-12.1		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:14823949-18055828)x1 copy number loss See cases [RCV000052487] Chr16:14823949..18055828 [GRCh38]
Chr16:14917806..18149685 [GRCh37]
Chr16:14825307..18057186 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11(chr16:14874798-16100862)x1 copy number loss See cases [RCV000052488] Chr16:14874798..16100862 [GRCh38]
Chr16:14968655..16194719 [GRCh37]
Chr16:14876156..16102220 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14954694-16100862)x1 copy number loss See cases [RCV000052505] Chr16:14954694..16100862 [GRCh38]
Chr16:15048551..16194719 [GRCh37]
Chr16:14956052..16102220 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15310395-18213149)x1 copy number loss See cases [RCV000052512] Chr16:15310395..18213149 [GRCh38]
Chr16:15404252..18307006 [GRCh37]
Chr16:15311753..18214507 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15434653-18055828)x3 copy number gain See cases [RCV000052515] Chr16:15434653..18055828 [GRCh38]
Chr16:15528510..18149685 [GRCh37]
Chr16:15436011..18057186 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15434653-18055828)x1 copy number loss See cases [RCV000052516] Chr16:15434653..18055828 [GRCh38]
Chr16:15528510..18149685 [GRCh37]
Chr16:15436011..18057186 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11(chr16:15434653-16281234)x1 copy number loss See cases [RCV000052517] Chr16:15434653..16281234 [GRCh38]
Chr16:15528510..16375091 [GRCh37]
Chr16:15436011..16282592 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15060830-18212997)x3 copy number gain See cases [RCV000053093] Chr16:15060830..18212997 [GRCh38]
Chr16:15154687..18306854 [GRCh37]
Chr16:15062188..18214355 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15185940-18658544)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053094]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053094]|See cases [RCV000053094] Chr16:15185940..18658544 [GRCh38]
Chr16:15279797..18669866 [GRCh37]
Chr16:15187298..18577367 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15186140-18658403)x3 copy number gain See cases [RCV000053095] Chr16:15186140..18658403 [GRCh38]
Chr16:15279997..18669725 [GRCh37]
Chr16:15187498..18577226 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance|conflicting data from submitters
GRCh38/hg38 16p13.11-12.3(chr16:15457445-17169859)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053308]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053308]|See cases [RCV000053308] Chr16:15457445..17169859 [GRCh38]
Chr16:15551302..17263716 [GRCh37]
Chr16:15458803..17171217 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15186140-18620659)x3 copy number gain See cases [RCV000053096] Chr16:15186140..18620659 [GRCh38]
Chr16:15279997..18631981 [GRCh37]
Chr16:15187498..18539482 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance|conflicting data from submitters
GRCh38/hg38 16p13.11(chr16:15187330-16281234)x3 copy number gain See cases [RCV000053097] Chr16:15187330..16281234 [GRCh38]
Chr16:15281187..16375091 [GRCh37]
Chr16:15188688..16282592 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15299037-18267893)x3 copy number gain See cases [RCV000053098] Chr16:15299037..18267893 [GRCh38]
Chr16:15392894..18361750 [GRCh37]
Chr16:15300395..18269251 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15310595-18620659)x3 copy number gain See cases [RCV000053099] Chr16:15310595..18620659 [GRCh38]
Chr16:15404452..18631981 [GRCh37]
Chr16:15311953..18539482 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15398460-18047194)x3 copy number gain See cases [RCV000053102] Chr16:15398460..18047194 [GRCh38]
Chr16:15492317..18141051 [GRCh37]
Chr16:15399818..18048552 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
Single allele deletion Epilepsy [RCV001293377] Chr16:14968859..16363239 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15126890-16293190)x3 copy number gain Intellectual disability [RCV001293648] Chr16:15126890..16293190 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14816348-16431491)x1 copy number loss See cases [RCV000050863] Chr16:14816348..16431491 [GRCh38]
Chr16:14910205..16525348 [GRCh37]
Chr16:14817706..16432849 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15492317-16292235) copy number gain Autism with high cognitive abilities [RCV001291950] Chr16:15492317..16292235 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3 copy number gain See cases [RCV000133809] Chr16:4644892..29170820 [GRCh38]
Chr16:4694893..29182141 [GRCh37]
Chr16:4634894..29089642 [NCBI36]
Chr16:16p13.3-11.2		 pathogenic
GRCh38/hg38 16p13.11(chr16:14954894-16100721)x3 copy number gain See cases [RCV000050778] Chr16:14954894..16100721 [GRCh38]
Chr16:15048751..16194578 [GRCh37]
Chr16:14956252..16102079 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14874998-16100721)x1 copy number loss See cases [RCV000050356] Chr16:14874998..16100721 [GRCh38]
Chr16:14968855..16194578 [GRCh37]
Chr16:14876356..16102079 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14874998-16034020)x3 copy number gain See cases [RCV000050367] Chr16:14874998..16034020 [GRCh38]
Chr16:14968855..16127877 [GRCh37]
Chr16:14876356..16035378 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15457445-18047194)x3 copy number gain See cases [RCV000050377] Chr16:15457445..18047194 [GRCh38]
Chr16:15551302..18141051 [GRCh37]
Chr16:15458803..18048552 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:15398450-16211820)x1 copy number loss See cases [RCV000134456] Chr16:15398450..16211820 [GRCh38]
Chr16:15492307..16305677 [GRCh37]
Chr16:15399808..16213178 [NCBI36]
Chr16:16p13.11		 pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 16p13.11(chr16:14954875-16100718)x3 copy number gain See cases [RCV000134080] Chr16:14954875..16100718 [GRCh38]
Chr16:15048732..16194575 [GRCh37]
Chr16:14956233..16102076 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14716125-16383721)x1 copy number loss See cases [RCV000135322] Chr16:14716125..16383721 [GRCh38]
Chr16:14809982..16477578 [GRCh37]
Chr16:14717483..16385079 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15310595-18212997)x1 copy number loss See cases [RCV000135502] Chr16:15310595..18212997 [GRCh38]
Chr16:15404452..18306854 [GRCh37]
Chr16:15311953..18214355 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11(chr16:14816348-16580464)x3 copy number gain See cases [RCV000135525] Chr16:14816348..16580464 [GRCh38]
Chr16:14910205..16674321 [GRCh37]
Chr16:14817706..16581822 [NCBI36]
Chr16:16p13.11		 conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
GRCh38/hg38 16p13.11(chr16:15457445-16633564)x3 copy number gain See cases [RCV000136541] Chr16:15457445..16633564 [GRCh38]
Chr16:15551302..16727421 [GRCh37]
Chr16:15458803..16634922 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:15457205-16100718)x3 copy number gain See cases [RCV000135975] Chr16:15457205..16100718 [GRCh38]
Chr16:15551062..16194575 [GRCh37]
Chr16:15458563..16102076 [NCBI36]
Chr16:16p13.11		 conflicting data from submitters
GRCh38/hg38 16p13.11-12.3(chr16:15060830-18535437)x3 copy number gain See cases [RCV000136807] Chr16:15060830..18535437 [GRCh38]
Chr16:15154687..18546759 [GRCh37]
Chr16:15062188..18454260 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11(chr16:14783830-16467294)x3 copy number gain See cases [RCV000137429] Chr16:14783830..16467294 [GRCh38]
Chr16:14877687..16561151 [GRCh37]
Chr16:14785188..16468652 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15261472-18768479)x3 copy number gain See cases [RCV000137451] Chr16:15261472..18768479 [GRCh38]
Chr16:15355329..18779801 [GRCh37]
Chr16:15262830..18687302 [NCBI36]
Chr16:16p13.11-12.3		 likely pathogenic|uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:14783830-18680735)x3 copy number gain See cases [RCV000137543] Chr16:14783830..18680735 [GRCh38]
Chr16:14877687..18692057 [GRCh37]
Chr16:14785188..18599558 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15194583-18726698)x3 copy number gain See cases [RCV000137588] Chr16:15194583..18726698 [GRCh38]
Chr16:15288440..18738020 [GRCh37]
Chr16:15195941..18645521 [NCBI36]
Chr16:16p13.11-12.3		 likely pathogenic|uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15186140-18783183)x3 copy number gain See cases [RCV000137700] Chr16:15186140..18783183 [GRCh38]
Chr16:15279997..18794505 [GRCh37]
Chr16:15187498..18702006 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15194583-18170423)x3 copy number gain See cases [RCV000137491] Chr16:15194583..18170423 [GRCh38]
Chr16:15288440..18264280 [GRCh37]
Chr16:15195941..18171781 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:14783830-16753905)x3 copy number gain See cases [RCV000137632] Chr16:14783830..16753905 [GRCh38]
Chr16:14877687..16847762 [GRCh37]
Chr16:14785188..16755263 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15194583-18214016)x3 copy number gain See cases [RCV000137336] Chr16:15194583..18214016 [GRCh38]
Chr16:15288440..18307873 [GRCh37]
Chr16:15195941..18215374 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance|conflicting data from submitters
GRCh38/hg38 16p13.11-12.3(chr16:14783830-16741305)x3 copy number gain See cases [RCV000137408] Chr16:14783830..16741305 [GRCh38]
Chr16:14877687..16835162 [GRCh37]
Chr16:14785188..16742663 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14816259-16431491)x1 copy number loss See cases [RCV000138037] Chr16:14816259..16431491 [GRCh38]
Chr16:14910116..16525348 [GRCh37]
Chr16:14817617..16432849 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:15345033-16431491)x3 copy number gain See cases [RCV000138207] Chr16:15345033..16431491 [GRCh38]
Chr16:15438890..16525348 [GRCh37]
Chr16:15346391..16432849 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14783830-16234088)x1 copy number loss See cases [RCV000138104] Chr16:14783830..16234088 [GRCh38]
Chr16:14877687..16327945 [GRCh37]
Chr16:14785188..16235446 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15194583-18236409)x3 copy number gain See cases [RCV000138003] Chr16:15194583..18236409 [GRCh38]
Chr16:15288440..18330266 [GRCh37]
Chr16:15195941..18237767 [NCBI36]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15398450-18212997)x1 copy number loss See cases [RCV000138168] Chr16:15398450..18212997 [GRCh38]
Chr16:15492307..18306854 [GRCh37]
Chr16:15399808..18214355 [NCBI36]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15345033-16753905)x3 copy number gain See cases [RCV000137763] Chr16:15345033..16753905 [GRCh38]
Chr16:15438890..16847762 [GRCh37]
Chr16:15346391..16755263 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11(chr16:14783830-16268850)x3 copy number gain See cases [RCV000137801] Chr16:14783830..16268850 [GRCh38]
Chr16:14877687..16362707 [GRCh37]
Chr16:14785188..16270208 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15457205-18212984)x1 copy number loss See cases [RCV000138825] Chr16:15457205..18212984 [GRCh38]
Chr16:15551062..18306841 [GRCh37]
Chr16:15458563..18214342 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11(chr16:14783830-16198378)x1 copy number loss See cases [RCV000138522] Chr16:14783830..16198378 [GRCh38]
Chr16:14877687..16292235 [GRCh37]
Chr16:14785188..16199736 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:14783830-18768479)x3 copy number gain See cases [RCV000138254] Chr16:14783830..18768479 [GRCh38]
Chr16:14877687..18779801 [GRCh37]
Chr16:14785188..18687302 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:15398450-16198378)x1 copy number loss See cases [RCV000138525] Chr16:15398450..16198378 [GRCh38]
Chr16:15492307..16292235 [GRCh37]
Chr16:15399808..16199736 [NCBI36]
Chr16:16p13.11		 pathogenic|conflicting data from submitters
GRCh38/hg38 16p13.11-12.3(chr16:15186140-18768479)x3 copy number gain See cases [RCV000138546] Chr16:15186140..18768479 [GRCh38]
Chr16:15279997..18779801 [GRCh37]
Chr16:15187498..18687302 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:14832186-16741305)x3 copy number gain See cases [RCV000139447] Chr16:14832186..16741305 [GRCh38]
Chr16:14926043..16835162 [GRCh37]
Chr16:14833544..16742663 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14954894-16198378)x1 copy number loss See cases [RCV000139438] Chr16:14954894..16198378 [GRCh38]
Chr16:15048751..16292235 [GRCh37]
Chr16:14956252..16199736 [NCBI36]
Chr16:16p13.11		 pathogenic|likely pathogenic
GRCh38/hg38 16p13.11(chr16:15345033-16268850)x3 copy number gain See cases [RCV000139195] Chr16:15345033..16268850 [GRCh38]
Chr16:15438890..16362707 [GRCh37]
Chr16:15346391..16270208 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15184811-18535419)x3 copy number gain See cases [RCV000139051] Chr16:15184811..18535419 [GRCh38]
Chr16:15278668..18546741 [GRCh37]
Chr16:15186169..18454242 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:15388063-16450562)x3 copy number gain See cases [RCV000139898] Chr16:15388063..16450562 [GRCh38]
Chr16:15481920..16544419 [GRCh37]
Chr16:15389421..16451920 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15398450-18068310)x1 copy number loss See cases [RCV000139649] Chr16:15398450..18068310 [GRCh38]
Chr16:15492307..18162167 [GRCh37]
Chr16:15399808..18069668 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11(chr16:14783830-16431491)x4 copy number gain See cases [RCV000141231] Chr16:14783830..16431491 [GRCh38]
Chr16:14877687..16525348 [GRCh37]
Chr16:14785188..16432849 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:15388063-16234983)x3 copy number gain See cases [RCV000140897] Chr16:15388063..16234983 [GRCh38]
Chr16:15481920..16328840 [GRCh37]
Chr16:15389421..16236341 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:15344307-16294387)x3 copy number gain See cases [RCV000140800] Chr16:15344307..16294387 [GRCh38]
Chr16:15438164..16388244 [GRCh37]
Chr16:15345665..16295745 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14799872-16440033)x3 copy number gain See cases [RCV000140802] Chr16:14799872..16440033 [GRCh38]
Chr16:14893729..16533890 [GRCh37]
Chr16:14801230..16441391 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15128213-18577521)x3 copy number gain See cases [RCV000140646] Chr16:15128213..18577521 [GRCh38]
Chr16:15222070..18588843 [GRCh37]
Chr16:15129571..18496344 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15186140-18068310)x3 copy number gain See cases [RCV000140664] Chr16:15186140..18068310 [GRCh38]
Chr16:15279997..18162167 [GRCh37]
Chr16:15187498..18069668 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14806311-16439385)x3 copy number gain See cases [RCV000140931] Chr16:14806311..16439385 [GRCh38]
Chr16:14900168..16533242 [GRCh37]
Chr16:14807669..16440743 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.12-13.11(chr16:14686278-16431491)x3 copy number gain See cases [RCV000140727] Chr16:14686278..16431491 [GRCh38]
Chr16:14780135..16525348 [GRCh37]
Chr16:14687636..16432849 [NCBI36]
Chr16:16p13.12-13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14783830-16450901)x3 copy number gain See cases [RCV000140763] Chr16:14783830..16450901 [GRCh38]
Chr16:14877687..16544758 [GRCh37]
Chr16:14785188..16452259 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14799175-16450562)x3 copy number gain See cases [RCV000141937] Chr16:14799175..16450562 [GRCh38]
Chr16:14893032..16544419 [GRCh37]
Chr16:14800533..16451920 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:15388063-16232220)x3 copy number gain See cases [RCV000141942] Chr16:15388063..16232220 [GRCh38]
Chr16:15481920..16326077 [GRCh37]
Chr16:15389421..16233578 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14799023-16440033)x3 copy number gain See cases [RCV000141961] Chr16:14799023..16440033 [GRCh38]
Chr16:14892880..16533890 [GRCh37]
Chr16:14800381..16441391 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14805819-16420254)x1 copy number loss See cases [RCV000141894] Chr16:14805819..16420254 [GRCh38]
Chr16:14899676..16514111 [GRCh37]
Chr16:14807177..16421612 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:15382367-16450562)x3 copy number gain See cases [RCV000141850] Chr16:15382367..16450562 [GRCh38]
Chr16:15476224..16544419 [GRCh37]
Chr16:15383725..16451920 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14802528-16236815)x1 copy number loss See cases [RCV000141748] Chr16:14802528..16236815 [GRCh38]
Chr16:14896385..16330672 [GRCh37]
Chr16:14803886..16238173 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14772426-16440033)x3 copy number gain See cases [RCV000141751] Chr16:14772426..16440033 [GRCh38]
Chr16:14866283..16533890 [GRCh37]
Chr16:14773784..16441391 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14772427-16298053)x1 copy number loss See cases [RCV000141796] Chr16:14772427..16298053 [GRCh38]
Chr16:14866284..16391910 [GRCh37]
Chr16:14773785..16299411 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15325296-18078611)x3 copy number gain See cases [RCV000141667] Chr16:15325296..18078611 [GRCh38]
Chr16:15419153..18172468 [GRCh37]
Chr16:15326654..18079969 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14874998-16034020)x1 copy number loss See cases [RCV000142443] Chr16:14874998..16034020 [GRCh38]
Chr16:14968855..16127877 [GRCh37]
Chr16:14876356..16035378 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14806274-16440033)x3 copy number gain See cases [RCV000142352] Chr16:14806274..16440033 [GRCh38]
Chr16:14900131..16533890 [GRCh37]
Chr16:14807632..16441391 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14803768-16400926)x1 copy number loss See cases [RCV000142363] Chr16:14803768..16400926 [GRCh38]
Chr16:14897625..16494783 [GRCh37]
Chr16:14805126..16402284 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14956111-16202043)x1 copy number loss See cases [RCV000142256] Chr16:14956111..16202043 [GRCh38]
Chr16:15049968..16295900 [GRCh37]
Chr16:14957469..16203401 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14803931-16199448)x3 copy number gain See cases [RCV000142280] Chr16:14803931..16199448 [GRCh38]
Chr16:14897788..16293305 [GRCh37]
Chr16:14805289..16200806 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15218552-18148856)x3 copy number gain See cases [RCV000142135] Chr16:15218552..18148856 [GRCh38]
Chr16:15312409..18242713 [GRCh37]
Chr16:15219910..18150214 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:15387890-16294387)x1 copy number loss See cases [RCV000142066] Chr16:15387890..16294387 [GRCh38]
Chr16:15481747..16388244 [GRCh37]
Chr16:15389248..16295745 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:15356432-16364551)x3 copy number gain See cases [RCV000142145] Chr16:15356432..16364551 [GRCh38]
Chr16:15450289..16458408 [GRCh37]
Chr16:15357790..16365909 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14806325-16450161)x3 copy number gain See cases [RCV000142084] Chr16:14806325..16450161 [GRCh38]
Chr16:14900182..16544018 [GRCh37]
Chr16:14807683..16451519 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:15034128-16427245)x3 copy number gain See cases [RCV000142092] Chr16:15034128..16427245 [GRCh38]
Chr16:15127985..16521102 [GRCh37]
Chr16:15035486..16428603 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:15398450-16268850)x1 copy number loss See cases [RCV000143025] Chr16:15398450..16268850 [GRCh38]
Chr16:15492307..16362707 [GRCh37]
Chr16:15399808..16270208 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14816356-16648337)x1 copy number loss See cases [RCV000142822] Chr16:14816356..16648337 [GRCh38]
Chr16:14910213..16742194 [GRCh37]
Chr16:14817714..16649695 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14816356-16431517)x1 copy number loss See cases [RCV000142851] Chr16:14816356..16431517 [GRCh38]
Chr16:14910213..16525374 [GRCh37]
Chr16:14817714..16432875 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14803931-16414182)x1 copy number loss See cases [RCV000143096] Chr16:14803931..16414182 [GRCh38]
Chr16:14897788..16508039 [GRCh37]
Chr16:14805289..16415540 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15457445-18047194)x1 copy number loss See cases [RCV000142529] Chr16:15457445..18047194 [GRCh38]
Chr16:15551302..18141051 [GRCh37]
Chr16:15458803..18048552 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic|likely pathogenic
GRCh38/hg38 16p13.11(chr16:14816348-16678513)x3 copy number gain See cases [RCV000142565] Chr16:14816348..16678513 [GRCh38]
Chr16:14910205..16772370 [GRCh37]
Chr16:14817706..16679871 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15223052-18148856)x3 copy number gain See cases [RCV000143416] Chr16:15223052..18148856 [GRCh38]
Chr16:15316909..18242713 [GRCh37]
Chr16:15224410..18150214 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14783830-16431491)x3 copy number gain See cases [RCV000143320] Chr16:14783830..16431491 [GRCh38]
Chr16:14877687..16525348 [GRCh37]
Chr16:14785188..16432849 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15398450-18272881)x1 copy number loss See cases [RCV000143204] Chr16:15398450..18272881 [GRCh38]
Chr16:15492307..18366738 [GRCh37]
Chr16:15399808..18274239 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic|likely pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:14783830-18536926)x3 copy number gain See cases [RCV000143143] Chr16:14783830..18536926 [GRCh38]
Chr16:14877687..18548248 [GRCh37]
Chr16:14785188..18455749 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:15355839-16294739)x1 copy number loss See cases [RCV000143230] Chr16:15355839..16294739 [GRCh38]
Chr16:15449696..16388596 [GRCh37]
Chr16:15357197..16296097 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15222856-18148856)x3 copy number gain See cases [RCV000143165] Chr16:15222856..18148856 [GRCh38]
Chr16:15316713..18242713 [GRCh37]
Chr16:15224214..18150214 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14816348-16100721)x1 copy number loss See cases [RCV000148070] Chr16:14816348..16100721 [GRCh38]
Chr16:14910205..16194578 [GRCh37]
Chr16:14817706..16102079 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14954894-16100721)x1 copy number loss See cases [RCV000148071] Chr16:14954894..16100721 [GRCh38]
Chr16:15048751..16194578 [GRCh37]
Chr16:14956252..16102079 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15186140-18620659)x3 copy number gain See cases [RCV000148077] Chr16:15186140..18620659 [GRCh38]
Chr16:15279997..18631981 [GRCh37]
Chr16:15187498..18539482 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 copy number gain See cases [RCV000143710] Chr16:666662..15743104 [GRCh38]
Chr16:716662..15836961 [GRCh37]
Chr16:656663..15744462 [NCBI36]
Chr16:16p13.3-13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14816348-16431491)x3 copy number gain See cases [RCV000148067] Chr16:14816348..16431491 [GRCh38]
Chr16:14910205..16525348 [GRCh37]
Chr16:14817706..16432849 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14816348-16100721)x3 copy number gain See cases [RCV000148068] Chr16:14816348..16100721 [GRCh38]
Chr16:14910205..16194578 [GRCh37]
Chr16:14817706..16102079 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14794724-16404227)x3 copy number gain See cases [RCV000143608] Chr16:14794724..16404227 [GRCh38]
Chr16:14888581..16498084 [GRCh37]
Chr16:14796082..16405585 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:15457445-16100721)x3 copy number gain See cases [RCV000148200] Chr16:15457445..16100721 [GRCh38]
Chr16:15551302..16194578 [GRCh37]
Chr16:15458803..16102079 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14816348-16633564)x3 copy number gain See cases [RCV000148105] Chr16:14816348..16633564 [GRCh38]
Chr16:14910205..16727421 [GRCh37]
Chr16:14817706..16634922 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15310595-18212997)x3 copy number gain See cases [RCV000148208] Chr16:15310595..18212997 [GRCh38]
Chr16:15404452..18306854 [GRCh37]
Chr16:15311953..18214355 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15186140-18658403)x3 copy number gain See cases [RCV000148146] Chr16:15186140..18658403 [GRCh38]
Chr16:15279997..18669725 [GRCh37]
Chr16:15187498..18577226 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14816348-16580464)x3 copy number gain See cases [RCV000148114] Chr16:14816348..16580464 [GRCh38]
Chr16:14910205..16674321 [GRCh37]
Chr16:14817706..16581822 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:15457445-16100721)x1 copy number loss See cases [RCV000148167] Chr16:15457445..16100721 [GRCh38]
Chr16:15551302..16194578 [GRCh37]
Chr16:15458803..16102079 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14874998-16100721)x3 copy number gain See cases [RCV000148180] Chr16:14874998..16100721 [GRCh38]
Chr16:14968855..16194578 [GRCh37]
Chr16:14876356..16102079 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15494600-16327230)x1 copy number loss See cases [RCV000240127] Chr16:15494600..16327230 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15507184-16315198)x3 copy number gain See cases [RCV000240168] Chr16:15507184..16315198 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
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
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 copy number gain Breast ductal adenocarcinoma [RCV000207326] Chr16:1274615..19073133 [GRCh37]
Chr16:16p13.3-12.3		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15489920-18141051)x3 copy number gain See cases [RCV000240098] Chr16:15489920..18141051 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15501629-16327230)x3 copy number gain See cases [RCV000239865] Chr16:15501629..16327230 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15494600-16327230)x3 copy number gain See cases [RCV000239980] Chr16:15494600..16327230 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15494600-18141051)x1 copy number loss See cases [RCV000239901] Chr16:15494600..18141051 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.11(chr16:14906734-16516109)x1 copy number loss See cases [RCV000511321] Chr16:14906734..16516109 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15494600-16292235)x1 copy number loss See cases [RCV000240260] Chr16:15494600..16292235 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14910205-16327230)x3 copy number gain See cases [RCV000240601] Chr16:14910205..16327230 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15489920-16327230)x3 copy number gain See cases [RCV000240480] Chr16:15489920..16327230 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15507184-16306653)x3 copy number gain See cases [RCV000240297] Chr16:15507184..16306653 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15507184-18141051)x3 copy number gain See cases [RCV000240491] Chr16:15507184..18141051 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15458733-18520588)x3 copy number gain not provided [RCV002292936] Chr16:15458733..18520588 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15457516-17564653)x3 copy number gain not provided [RCV002292935] Chr16:15457516..17564653 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:14968859-16291983)x3 copy number gain See cases [RCV000598738] Chr16:14968859..16291983 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15499057-18264837)x4 copy number gain See cases [RCV000598971] Chr16:15499057..18264837 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15316618-18242712)x3 copy number gain See cases [RCV000449425] Chr16:15316618..18242712 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic|uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15422920-18181971)x1 copy number loss See cases [RCV000449218] Chr16:15422920..18181971 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.11(chr16:14866283-16533890)x3 copy number gain See cases [RCV000449310] Chr16:14866283..16533890 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14866283-16494783)x1 copy number loss See cases [RCV000449476] Chr16:14866283..16494783 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14892713-16533890)x3 copy number gain See cases [RCV000447682] Chr16:14892713..16533890 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14892880-16533890)x1 copy number loss See cases [RCV000446976] Chr16:14892880..16533890 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15494600-16327171)x3 copy number gain See cases [RCV000446987] Chr16:15494600..16327171 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14897372-16495076)x1 copy number loss See cases [RCV000446228] Chr16:14897372..16495076 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14866283-16390970)x3 copy number gain See cases [RCV000446288] Chr16:14866283..16390970 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:14866283-16855348)x3 copy number gain See cases [RCV000446392] Chr16:14866283..16855348 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.11(chr16:14910205-16586870)x3 copy number gain See cases [RCV000446726] Chr16:14910205..16586870 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15316618-18185466)x3 copy number gain See cases [RCV000447011] Chr16:15316618..18185466 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
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 16p13.11-12.3(chr16:15193982-18172468)x3 copy number gain See cases [RCV000447066] Chr16:15193982..18172468 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:14899958-16519467)x3 copy number gain See cases [RCV000446766] Chr16:14899958..16519467 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15418908-16388596)x3 copy number gain See cases [RCV000446781] Chr16:15418908..16388596 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14897243-16516109)x3 copy number gain See cases [RCV000447511] Chr16:14897243..16516109 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15489920-16292181)x3 copy number gain See cases [RCV000447647] Chr16:15489920..16292181 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14906734-16498084)x1 copy number loss See cases [RCV000445845] Chr16:14906734..16498084 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14928345-16294403)x3 copy number gain See cases [RCV000445858] Chr16:14928345..16294403 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15489920-16327171)x3 copy number gain See cases [RCV000445864] Chr16:15489920..16327171 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15193982-18191725)x3 copy number gain See cases [RCV000448998] Chr16:15193982..18191725 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:14888582-16855348)x3 copy number gain See cases [RCV000448024] Chr16:14888582..16855348 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15539023-16291541) copy number gain Abnormal esophagus morphology [RCV000416782] Chr16:15539023..16291541 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:14866283-16855477)x3 copy number gain See cases [RCV000448548] Chr16:14866283..16855477 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:14985615-17000304) copy number gain Abnormal esophagus morphology [RCV000416828] Chr16:14985615..17000304 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15034035-15998820) copy number gain Abnormal esophagus morphology [RCV000416924] Chr16:15034035..15998820 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15420069-16388596)x1 copy number loss See cases [RCV000447918] Chr16:15420069..16388596 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15449696-16391910)x3 copy number gain See cases [RCV000447927] Chr16:15449696..16391910 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14897243-16527476)x3 copy number gain See cases [RCV000447712] Chr16:14897243..16527476 [GRCh37]
Chr16:16p13.11		 uncertain significance
NC_000016.9:g.(?_15180601)_(18778866_?)dup duplication Schizophrenia [RCV000416672] Chr16:15180601..18778866 [GRCh37]
Chr16:15088102..18686367 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.11(chr16:14892880-16533107)x3 copy number gain See cases [RCV000448293] Chr16:14892880..16533107 [GRCh37]
Chr16:16p13.11		 uncertain significance
NC_000016.10:g.(?_15318653)_(16292712_?)dup duplication Schizophrenia [RCV000416779] Chr16:15318653..16292712 [GRCh38]
Chr16:15412510..16386569 [GRCh37]
Chr16:15320011..16294070 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15481747-16390970)x3 copy number gain See cases [RCV000448300] Chr16:15481747..16390970 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15481920-16388244)x1 copy number loss See cases [RCV000448658] Chr16:15481920..16388244 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14897625-16516109)x1 copy number loss See cases [RCV000448849] Chr16:14897625..16516109 [GRCh37]
Chr16:16p13.11		 pathogenic
NC_000016.10:g.(?_15031901)_(16512853_?)dup duplication Schizophrenia [RCV000416863] Chr16:15031901..16512853 [GRCh38]
Chr16:15125758..16606710 [GRCh37]
Chr16:15033259..16514211 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15054174-16327476)x3 copy number gain See cases [RCV000447738] Chr16:15054174..16327476 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NC_000016.10:g.(?_15330513)_(16443434_?)del deletion Schizophrenia [RCV000416922] Chr16:15330513..16443434 [GRCh38]
Chr16:15424370..16537291 [GRCh37]
Chr16:15331871..16444792 [NCBI36]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:14866283-16858476)x3 copy number gain See cases [RCV000448589] Chr16:14866283..16858476 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15489920-15567615)x3 copy number gain See cases [RCV000447835] Chr16:15489920..15567615 [GRCh37]
Chr16:16p13.11		 benign
GRCh37/hg19 16p13.11(chr16:14905705-16391045)x1 copy number loss See cases [RCV000447968] Chr16:14905705..16391045 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15494600-16327171)x1 copy number loss See cases [RCV000448453] Chr16:15494600..16327171 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14900182-16519932)x3 copy number gain See cases [RCV000448468] Chr16:14900182..16519932 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14866284-16544419)x1 copy number loss See cases [RCV000510365] Chr16:14866284..16544419 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15449696-16328840)x3 copy number gain See cases [RCV000510529] Chr16:15449696..16328840 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15507184-18141051)x3 copy number gain not provided [RCV000509488] Chr16:15507184..18141051 [GRCh37]
Chr16:16p13.11-12.3		 not provided
GRCh37/hg19 16p13.11(chr16:14893032-16533107)x3 copy number gain See cases [RCV000510233] Chr16:14893032..16533107 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14866284-16544419)x3 copy number gain See cases [RCV000510618] Chr16:14866284..16544419 [GRCh37]
Chr16:16p13.11		 uncertain significance
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 16p13.11(chr16:14888582-16544419)x3 copy number gain See cases [RCV000511651] Chr16:14888582..16544419 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14896385-16519643)x1 copy number loss See cases [RCV000511661] Chr16:14896385..16519643 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15450289-16544419)x3 copy number gain See cases [RCV000511929] Chr16:15450289..16544419 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14866283-16544419)x3 copy number gain See cases [RCV000511683] Chr16:14866283..16544419 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15481920-18181971)x1 copy number loss See cases [RCV000511758] Chr16:15481920..18181971 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.11(chr16:14900182-16533242)x3 copy number gain See cases [RCV000511709] Chr16:14900182..16533242 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14866283-16516109)x3 copy number gain See cases [RCV000511420] Chr16:14866283..16516109 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14906734-16330672)x1 copy number loss See cases [RCV000511713] Chr16:14906734..16330672 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14892880-16529801)x3 copy number gain See cases [RCV000511718] Chr16:14892880..16529801 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14888582-16391910)x3 copy number gain See cases [RCV000511990] Chr16:14888582..16391910 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14899630-16458353)x1 copy number loss See cases [RCV000511863] Chr16:14899630..16458353 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15449696-16391909)x3 copy number gain See cases [RCV000511947] Chr16:15449696..16391909 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14897625-16391910)x1 copy number loss See cases [RCV000512040] Chr16:14897625..16391910 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15449696-16330627)x1 copy number loss See cases [RCV000510875] Chr16:15449696..16330627 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15049968-16218828)x3 copy number gain See cases [RCV000511016] Chr16:15049968..16218828 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14866284-16391910)x3 copy number gain See cases [RCV000511064] Chr16:14866284..16391910 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15449696-16319630)x1 copy number loss See cases [RCV000510829] Chr16:15449696..16319630 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15509728-16330672)x1 copy number loss See cases [RCV000510841] Chr16:15509728..16330672 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14866283-16529801)x3 copy number gain See cases [RCV000511276] Chr16:14866283..16529801 [GRCh37]
Chr16:16p13.11		 uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.11(chr16:14906845-16515901)x1 copy number loss See cases [RCV000510780] Chr16:14906845..16515901 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15449696-16514368)x1 copy number loss See cases [RCV000511286] Chr16:15449696..16514368 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14892914-16529555)x3 copy number gain See cases [RCV000511004] Chr16:14892914..16529555 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14893385-16544419)x3 copy number gain See cases [RCV000510967] Chr16:14893385..16544419 [GRCh37]
Chr16:16p13.11		 uncertain significance
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 16p13.11(chr16:15395312-16210889) copy number loss not provided [RCV000767579] Chr16:15395312..16210889 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15493046-16291983) copy number loss not provided [RCV000767580] Chr16:15493046..16291983 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15548310-17988303) copy number loss not provided [RCV000767583] Chr16:15548310..17988303 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 copy number gain See cases [RCV000512194] Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3		 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 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2		 pathogenic
GRCh37/hg19 16p13.11(chr16:14900131-16529801)x3 copy number gain See cases [RCV000512246] Chr16:14900131..16529801 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14893032-16529801)x3 copy number gain See cases [RCV000512363] Chr16:14893032..16529801 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15450289-16508304)x3 copy number gain See cases [RCV000512364] Chr16:15450289..16508304 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15449696-16529876)x3 copy number gain See cases [RCV000512404] Chr16:15449696..16529876 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14900072-16544419)x3 copy number gain See cases [RCV000512370] Chr16:14900072..16544419 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15049968-16391910)x1 copy number loss See cases [RCV000512373] Chr16:15049968..16391910 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14897625-16516109)x1 copy number loss See cases [RCV000512560] Chr16:14897625..16516109 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15420069-16388244)x1 copy number loss See cases [RCV000512563] Chr16:15420069..16388244 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:14901996-16544419)x3 copy number gain See cases [RCV000512570] Chr16:14901996..16544419 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15476223-16458423)x3 copy number gain See cases [RCV000512343] Chr16:15476223..16458423 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14892880-16544018)x3 copy number gain See cases [RCV000512602] Chr16:14892880..16544018 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15316618-18185466)x3 copy number gain not provided [RCV000683773] Chr16:15316618..18185466 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15318664-18778064)x1 copy number loss not provided [RCV000683774] Chr16:15318664..18778064 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.11(chr16:15351247-16458408)x1 copy number loss not provided [RCV000683775] Chr16:15351247..16458408 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15449696-16330627)x1 copy number loss not provided [RCV000683777] Chr16:15449696..16330627 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15495265-16309185)x1 copy number loss not provided [RCV000683778] Chr16:15495265..16309185 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15507898-16294847)x1 copy number loss not provided [RCV000683780] Chr16:15507898..16294847 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15509406-18181971)x3 copy number gain not provided [RCV000683781] Chr16:15509406..18181971 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15419480-16494783)x1 copy number loss not provided [RCV000683776] Chr16:15419480..16494783 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.12-12.3(chr16:14780543-16855348)x1 copy number loss not provided [RCV000683767] Chr16:14780543..16855348 [GRCh37]
Chr16:16p13.12-12.3		 pathogenic
GRCh37/hg19 16p13.12-13.11(chr16:14780641-16498084)x1 copy number loss not provided [RCV000683768] Chr16:14780641..16498084 [GRCh37]
Chr16:16p13.12-13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14892880-16521406)x1 copy number loss not provided [RCV000683769] Chr16:14892880..16521406 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15316618-18181971)x1 copy number loss not provided [RCV000683772] Chr16:15316618..18181971 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.11(chr16:15495265-16330672)x1 copy number loss not provided [RCV000683779] Chr16:15495265..16330672 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14897625-16458408)x1 copy number loss not provided [RCV000683770] Chr16:14897625..16458408 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14899676-16391045)x1 copy number loss not provided [RCV000683771] Chr16:14899676..16391045 [GRCh37]
Chr16:16p13.11		 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 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NC_000016.10:g.(?_14780667)_(16415941_?)del deletion Schizophrenia [RCV000754170] Chr16:14780667..16415941 [GRCh38]
Chr16:16p13.11		 pathogenic
Single allele duplication Schizophrenia [RCV000754171] Chr16:15029830..16415941 [GRCh38]
Chr16:16p13.11		 pathogenic
Single allele duplication Schizophrenia [RCV000754172] Chr16:15030738..16517711 [GRCh38]
Chr16:16p13.11		 pathogenic
Single allele duplication Schizophrenia [RCV000754173] Chr16:15085515..18775195 [GRCh38]
Chr16:16p13.11-12.3		 pathogenic
Single allele duplication Schizophrenia [RCV000754174] Chr16:15279737..18291544 [GRCh38]
Chr16:16p13.11-12.3		 pathogenic
Single allele duplication Schizophrenia [RCV000754175] Chr16:15318125..16294378 [GRCh38]
Chr16:16p13.11		 pathogenic
NC_000016.10:g.(?_15328439)_(16443962_?)del deletion Schizophrenia [RCV000754176] Chr16:15328439..16443962 [GRCh38]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.12-13.11(chr16:14759219-16419494)x1 copy number loss not provided [RCV000739062] Chr16:14759219..16419494 [GRCh37]
Chr16:16p13.12-13.11		 likely benign
GRCh37/hg19 16p13.11(chr16:14968859-16291983)x1 copy number loss not provided [RCV000739063] Chr16:14968859..16291983 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14968859-16303388)x1 copy number loss not provided [RCV000739064] Chr16:14968859..16303388 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14968859-16458748)x3 copy number gain not provided [RCV000739065] Chr16:14968859..16458748 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14975292-16306563)x1 copy number loss not provided [RCV000739066] Chr16:14975292..16306563 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15048643-16353166)x1 copy number loss not provided [RCV000739068] Chr16:15048643..16353166 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15051703-16343095)x3 copy number gain not provided [RCV000739069] Chr16:15051703..16343095 [GRCh37]
Chr16:16p13.11		 uncertain significance
Single allele duplication Autism [RCV000754177] Chr16:15375457..16198187 [GRCh38]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15051703-16356750)x3 copy number gain not provided [RCV000739070] Chr16:15051703..16356750 [GRCh37]
Chr16:16p13.11		 likely benign
NC_000016.10:g.(?_14757009)_(16763184_?)del deletion Autism [RCV000754169] Chr16:14757009..16763184 [GRCh38]
Chr16:16p13.11-12.3		 pathogenic
Single allele duplication Intestinal malrotation [RCV000754987] Chr16:15491492..16292218 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15551302-18306854)x3 copy number gain not provided [RCV000856643] Chr16:15551302..18306854 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15259141-18361376)x3 copy number gain not provided [RCV000751597] Chr16:15259141..18361376 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15469950-15661789)x3 copy number gain not provided [RCV000751598] Chr16:15469950..15661789 [GRCh37]
Chr16:16p13.11		 benign
GRCh37/hg19 16p13.11-12.3(chr16:15469950-18172311)x3 copy number gain not provided [RCV000751599] Chr16:15469950..18172311 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15493046-16053729) copy number loss not provided [RCV000767581] Chr16:15493046..16053729 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14932264-16484731)x3 copy number gain not provided [RCV000996425] Chr16:14932264..16484731 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15034210-16199736) copy number gain not provided [RCV000767668] Chr16:15034210..16199736 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15126709-16292235) copy number gain not provided [RCV000767763] Chr16:15126709..16292235 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.12-13.11(chr16:14766480-16286694) copy number gain not provided [RCV000767573] Chr16:14766480..16286694 [GRCh37]
Chr16:16p13.12-13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15126709-16292235) copy number gain not provided [RCV000767824] Chr16:15126709..16292235 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15425965-16199736) copy number loss not provided [RCV000767843] Chr16:15425965..16199736 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14975292-16301530) copy number gain not provided [RCV000767574] Chr16:14975292..16301530 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14975292-16289532) copy number gain not provided [RCV000767576] Chr16:14975292..16289532 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15126709-16292235) copy number gain not provided [RCV000767578] Chr16:15126709..16292235 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15521713-16292235) copy number loss not provided [RCV000767582] Chr16:15521713..16292235 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15168667-16291983) copy number gain not provided [RCV000767606] Chr16:15168667..16291983 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15125627-16291983) copy number loss not provided [RCV000767695] Chr16:15125627..16291983 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15125627-16286750) copy number gain not provided [RCV000767577] Chr16:15125627..16286750 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15129970-16284116) copy number gain not provided [RCV000767605] Chr16:15129970..16284116 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15493046-18157612)x3 copy number gain See cases [RCV000790572] Chr16:15493046..18157612 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
NC_000016.10:g.(?_15395898)_(15888585_?)del deletion Aortic aneurysm, familial thoracic 4 [RCV001032140] Chr16:15489755..15982442 [GRCh37]
Chr16:16p13.11		 pathogenic
Single allele deletion Rubinstein-Taybi syndrome due to 16p13.3 microdeletion [RCV000844925] Chr16:15154115..16276115 [GRCh37]
Chr16:16p13.11		 not provided
GRCh37/hg19 16p13.12-13.11(chr16:14770672-16388343)x1 copy number loss not provided [RCV001006768] Chr16:14770672..16388343 [GRCh37]
Chr16:16p13.12-13.11		 pathogenic
NC_000016.10:g.(?_15395898)_(15884205_?)del deletion Aortic aneurysm, familial thoracic 4 [RCV001032826] Chr16:15489755..15978062 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.12-13.11(chr16:14770672-16458408)x1 copy number loss not provided [RCV001006769] Chr16:14770672..16458408 [GRCh37]
Chr16:16p13.12-13.11		 pathogenic
GRCh37/hg19 16p13.12-13.11(chr16:14780543-16391045)x1 copy number loss not provided [RCV001006770] Chr16:14780543..16391045 [GRCh37]
Chr16:16p13.12-13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14819740-16364041)x3 copy number gain not provided [RCV003312362] Chr16:14819740..16364041 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:14927709-16367932)x3 copy number gain not provided [RCV000996424] Chr16:14927709..16367932 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14893566-16330627)x1 copy number loss not provided [RCV001006771] Chr16:14893566..16330627 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15154115-16276115) copy number loss Rubinstein-Taybi syndrome due to 16p13.3 microdeletion [RCV001249391] Chr16:15154115..16276115 [GRCh37]
Chr16:16p13.11		 not provided
GRCh37/hg19 16p13.11(chr16:15481748-16330672)x1 copy number loss not provided [RCV002472866] Chr16:15481748..16330672 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15509407-16330477)x3 copy number gain not provided [RCV002472550] Chr16:15509407..16330477 [GRCh37]
Chr16:16p13.11		 likely 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 16p13.11(chr16:15509729-16255865)x3 copy number gain not provided [RCV002472817] Chr16:15509729..16255865 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.12-13.11(chr16:14780544-16330627)x1 copy number loss not provided [RCV002473940] Chr16:14780544..16330627 [GRCh37]
Chr16:16p13.12-13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14897625-16514111)x1 copy number loss not provided [RCV001006772] Chr16:14897625..16514111 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15416364-18231275)x1 copy number loss not provided [RCV001006778] Chr16:15416364..18231275 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.11(chr16:15481920-15628438)x4 copy number gain not provided [RCV001006779] Chr16:15481920..15628438 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15481920-16516109)x3 copy number gain not provided [RCV001006780] Chr16:15481920..16516109 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:14975292-16291099)x3 copy number gain See cases [RCV001194544] Chr16:14975292..16291099 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NC_000016.10:g.(?_15586717)_(15838252_?)del deletion Aortic aneurysm, familial thoracic 4 [RCV001032927] Chr16:15680574..15932109 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:14900168-16869135)x3 copy number gain not provided [RCV001006774] Chr16:14900168..16869135 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:14900182-16529801)x3 copy number gain not provided [RCV001006775] Chr16:14900182..16529801 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15494600-18141051)x1 copy number loss 16p13.11 microdeletion syndrome [RCV001824940]|not provided [RCV001249387] Chr16:15494600..18141051 [GRCh37]
Chr16:16p13.11-12.3		 no classifications from unflagged records|not provided
GRCh37/hg19 16p13.11-12.3(chr16:14900072-16837613)x3 copy number gain not provided [RCV001006773] Chr16:14900072..16837613 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15124782-16291779)x1 copy number loss not provided [RCV001537888] Chr16:15124782..16291779 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14887031-16308753)x3 copy number gain not provided [RCV001537889] Chr16:14887031..16308753 [GRCh37]
Chr16:16p13.11		 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 16p13.11(chr16:15417030-16544419)x3 copy number gain not provided [RCV001259250] Chr16:15417030..16544419 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15127985-16527476)x3 copy number gain not provided [RCV001259251] Chr16:15127985..16527476 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:14929038-16309046)x3 copy number gain not provided [RCV001259253] Chr16:14929038..16309046 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15481920-18164698)x3 copy number gain not provided [RCV001259257] Chr16:15481920..18164698 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15375911-18198455)x1 copy number loss not provided [RCV001259258] Chr16:15375911..18198455 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15481920-16837613)x3 copy number gain not provided [RCV001259259] Chr16:15481920..16837613 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic|uncertain significance
GRCh37/hg19 16p13.11(chr16:14899676-16516109) copy number loss Hydrocephalus [RCV002280699] Chr16:14899676..16516109 [GRCh37]
Chr16:16p13.11		 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 16p13.11(chr16:15058820-16328840)x3 copy number gain not provided [RCV001259252] Chr16:15058820..16328840 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15509824-16328781)x3 copy number gain not provided [RCV001259254] Chr16:15509824..16328781 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15193982-18770833)x3 copy number gain not provided [RCV001259255] Chr16:15193982..18770833 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15316618-18164698)x3 copy number gain not provided [RCV001259256] Chr16:15316618..18164698 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15048751-16292235) copy number loss Abnormality of the head [RCV001291975] Chr16:15048751..16292235 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14968855-16251122)x1 copy number loss not provided [RCV001281366] Chr16:14968855..16251122 [GRCh37]
Chr16:16p13.11		 risk factor
GRCh37/hg19 16p13.11(chr16:15375912-16390970)x1 copy number loss not provided [RCV001834196] Chr16:15375912..16390970 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15124581-16290348)x3 copy number gain not provided [RCV001795550] Chr16:15124581..16290348 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:14892880-16533890) copy number gain 16p13.11 microduplication syndrome [RCV002280703] Chr16:14892880..16533890 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15316618-18770833) copy number gain Autism [RCV002280692] Chr16:15316618..18770833 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:14927857-16537664) copy number gain Autism [RCV002280694] Chr16:14927857..16537664 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15316618-18191725) copy number gain Cardiomyopathy [RCV002280695] Chr16:15316618..18191725 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:14897372-16513267) copy number loss Seizure [RCV002280701] Chr16:14897372..16513267 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14892880-16544222) copy number gain 16p13.11 microduplication syndrome [RCV002280702] Chr16:14892880..16544222 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15418575-16494783)x1 copy number loss not provided [RCV001827596] Chr16:15418575..16494783 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15481920-15617999)x3 copy number gain not provided [RCV001827679] Chr16:15481920..15617999 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11(chr16:14886858-16328857)x3 copy number gain See cases [RCV002246173] Chr16:14886858..16328857 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:14897625-16494783) copy number loss 16p13.11 microdeletion syndrome [RCV002280700] Chr16:14897625..16494783 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15551302-16194578)x1 copy number loss Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 [RCV002279760] Chr16:15551302..16194578 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15416716-16529801)x3 copy number gain See cases [RCV002287559] Chr16:15416716..16529801 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15416917-18770833)x3 copy number gain See cases [RCV002286336] Chr16:15416917..18770833 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15476224-16330672)x1 copy number loss not provided [RCV002472633] Chr16:15476224..16330672 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15316939-18770833)x3 copy number gain not provided [RCV002472531] Chr16:15316939..18770833 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15509407-16309046)x3 copy number gain not provided [RCV002472724] Chr16:15509407..16309046 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15509592-16309165)x3 copy number gain not provided [RCV002472723] Chr16:15509592..16309165 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15509407-16319630)x3 copy number gain not provided [RCV002472542] Chr16:15509407..16319630 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15509407-15858075)x3 copy number gain not provided [RCV002474731] Chr16:15509407..15858075 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15449697-16391045)x1 copy number loss not provided [RCV002472615] Chr16:15449697..16391045 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15481921-16330672)x3 copy number gain not provided [RCV002474550] Chr16:15481921..16330672 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:14925995-16309165)x3 copy number gain not provided [RCV002473711] Chr16:14925995..16309165 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15509407-16330672)x3 copy number gain not provided [RCV002474521] Chr16:15509407..16330672 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.12-12.3(chr16:14365745-17052798)x3 copy number gain not provided [RCV002473916] Chr16:14365745..17052798 [GRCh37]
Chr16:16p13.12-12.3		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15509407-16527476)x3 copy number gain not provided [RCV002474571] Chr16:15509407..16527476 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15423704-16327961)x3 copy number gain not provided [RCV002472543] Chr16:15423704..16327961 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:14927709-16484731)x3 copy number gain not provided [RCV002511850] Chr16:14927709..16484731 [GRCh37]
Chr16:16p13.11		 likely pathogenic
Single allele deletion 16p13.11 recurrent microdeletion syndrome [RCV003221320] Chr16:14692101..16527136 [GRCh38]
Chr16:16p13.12-13.11		 likely pathogenic
GRCh38/hg38 16p13.11(chr16:14816348-16678513) copy number gain Anomalous pulmonary venous return [RCV003223578] Chr16:14816348..16678513 [GRCh38]
Chr16:16p13.11		 uncertain significance
NC_000016.10:g.14683149_16205174dup duplication not specified [RCV003225664] Chr16:14683149..16205174 [GRCh38]
Chr16:16p13.12-13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15125542-16388672)x3 copy number gain 16p13.11 microduplication syndrome [RCV003329524] Chr16:15125542..16388672 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15475455-16308356)x1 copy number loss Autosomal recessive inherited pseudoxanthoma elasticum [RCV003329506] Chr16:15475455..16308356 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14853752-16666672)x1 copy number loss 16p13.11 microdeletion syndrome [RCV003329546] Chr16:14853752..16666672 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15489453-18321582)x1 copy number loss 16p13.11 microdeletion syndrome [RCV003329551] Chr16:15489453..18321582 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.11(chr16:14927709-16364041)x1 copy number loss not provided [RCV003419542] Chr16:14927709..16364041 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15358446-16494783)x1 copy number loss not provided [RCV003483277] Chr16:15358446..16494783 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15481748-16391045)x1 copy number loss not provided [RCV003483279] Chr16:15481748..16391045 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15058821-16837613)x3 copy number gain not provided [RCV003485099] Chr16:15058821..16837613 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15481748-15761254)x3 copy number gain not provided [RCV003485100] Chr16:15481748..15761254 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15509592-16873547)x3 copy number gain not provided [RCV003485103] Chr16:15509592..16873547 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15324776-16294705)x1 copy number loss not provided [RCV003483276] Chr16:15324776..16294705 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15450290-16458408)x1 copy number loss not provided [RCV003483278] Chr16:15450290..16458408 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15054346-16309165)x3 copy number gain not provided [RCV003485098] Chr16:15054346..16309165 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15507899-16388359)x3 copy number gain not provided [RCV003485101] Chr16:15507899..16388359 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15509407-18779589)x3 copy number gain not provided [RCV003485102] Chr16:15509407..18779589 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15460510-16443142)x3 copy number gain not provided [RCV003456960] Chr16:15460510..16443142 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh38/hg38 16p13.11(chr16:15399656-16194269) copy number loss Autism spectrum disorder [RCV003883417] Chr16:15399656..16194269 [GRCh38]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15184811-18708191) copy number loss Autism spectrum disorder [RCV003883423] Chr16:15184811..18708191 [GRCh38]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.11(chr16:15516148-16289059)x3 copy number gain not specified [RCV003986318] Chr16:15516148..16289059 [GRCh37]
Chr16:16p13.11		 likely pathogenic|low penetrance
GRCh37/hg19 16p13.11(chr16:15126890-16289059)x3 copy number gain not specified [RCV003986319] Chr16:15126890..16289059 [GRCh37]
Chr16:16p13.11		 likely pathogenic|low penetrance
GRCh37/hg19 16p13.11(chr16:14906734-16516109)x3 copy number gain not specified [RCV003987137] Chr16:14906734..16516109 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14892880-16494783)x3 copy number gain not specified [RCV003987147] Chr16:14892880..16494783 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14892713-16544419)x3 copy number gain not specified [RCV003987171] Chr16:14892713..16544419 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14866283-16544419)x3 copy number gain not specified [RCV003987170] Chr16:14866283..16544419 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15458733-18188719)x1 copy number loss not provided [RCV003885475] Chr16:15458733..18188719 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.11(chr16:14927578-16481355)x1 copy number loss not provided [RCV003885473] Chr16:14927578..16481355 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14858860-16367932)x3 copy number gain not provided [RCV003885472] Chr16:14858860..16367932 [GRCh37]
Chr16:16p13.11		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3580
Count of miRNA genes:982
Interacting mature miRNAs:1187
Transcripts:ENST00000300006, ENST00000452191, ENST00000561692, ENST00000561813, ENST00000563380, ENST00000564389, ENST00000565857, ENST00000565913, ENST00000566490, ENST00000567550, ENST00000570249
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
RH65283  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371615,681,667 - 15,681,790UniSTSGRCh37
Build 361615,589,168 - 15,589,291RGDNCBI36
Celera1615,362,137 - 15,362,260RGD
Cytogenetic Map16p13.11UniSTS
HuRef1615,075,542 - 15,075,665UniSTS
D16S3177  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371615,544,643 - 15,544,763UniSTSGRCh37
Build 361615,452,144 - 15,452,264RGDNCBI36
Celera1615,225,107 - 15,225,227RGD
Cytogenetic Map16p13.11UniSTS
HuRef1614,938,122 - 14,938,242UniSTS
STS-AA027340  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371615,681,639 - 15,681,867UniSTSGRCh37
Build 361615,589,140 - 15,589,368RGDNCBI36
Celera1615,362,109 - 15,362,337RGD
Cytogenetic Map16p13.11UniSTS
HuRef1615,075,514 - 15,075,742UniSTS
GeneMap99-GB4 RH Map16164.81UniSTS
RH41898  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371615,681,612 - 15,681,784UniSTSGRCh37
Build 361615,589,113 - 15,589,285RGDNCBI36
Celera1615,362,082 - 15,362,254RGD
Cytogenetic Map16p13.11UniSTS
HuRef1615,075,487 - 15,075,659UniSTS
GeneMap99-GB4 RH Map1668.67UniSTS
NCBI RH Map16139.9UniSTS
SHGC-56757  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371615,681,803 - 15,681,969UniSTSGRCh37
Build 361615,589,304 - 15,589,470RGDNCBI36
Celera1615,362,273 - 15,362,439RGD
Cytogenetic Map16p13.11UniSTS
HuRef1615,075,678 - 15,075,844UniSTS
TNG Radiation Hybrid Map168885.0UniSTS
SHGC-33692  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371615,576,701 - 15,576,827UniSTSGRCh37
Build 361615,484,202 - 15,484,328RGDNCBI36
Celera1615,257,175 - 15,257,301RGD
Cytogenetic Map16p13.11UniSTS
HuRef1614,970,036 - 14,970,162UniSTS
TNG Radiation Hybrid Map168941.0UniSTS
Stanford-G3 RH Map16867.0UniSTS
GeneMap99-GB4 RH Map16161.41UniSTS
Whitehead-RH Map1686.6UniSTS
NCBI RH Map16150.6UniSTS
GeneMap99-G3 RH Map16827.0UniSTS
D16S3345  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371615,539,810 - 15,539,940UniSTSGRCh37
Build 361615,447,311 - 15,447,441RGDNCBI36
Celera1615,220,274 - 15,220,404RGD
Cytogenetic Map16p13.11UniSTS
HuRef1614,933,289 - 14,933,419UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1819 2079 1094 206 216 122 3640 2039 3638 254 1242 1205 89 1175 2534
Low 573 828 625 414 1452 336 709 150 95 157 195 378 84 1 29 254 2 2
Below cutoff 44 83 5 4 248 7 3 6 6 16 23 1 3

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000300006   ⟹   ENSP00000300006
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1615,434,588 - 15,588,259 (+)Ensembl
RefSeq Acc Id: ENST00000452191   ⟹   ENSP00000408976
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1615,502,266 - 15,588,074 (+)Ensembl
RefSeq Acc Id: ENST00000561692   ⟹   ENSP00000457515
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1615,515,343 - 15,584,182 (+)Ensembl
RefSeq Acc Id: ENST00000561813   ⟹   ENSP00000455130
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1615,434,568 - 15,583,238 (+)Ensembl
RefSeq Acc Id: ENST00000563380
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1615,533,043 - 15,536,948 (+)Ensembl
RefSeq Acc Id: ENST00000564389   ⟹   ENSP00000456219
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1615,515,305 - 15,587,964 (+)Ensembl
RefSeq Acc Id: ENST00000565857   ⟹   ENSP00000456084
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1615,567,983 - 15,625,028 (+)Ensembl
RefSeq Acc Id: ENST00000565913
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1615,577,134 - 15,587,357 (+)Ensembl
RefSeq Acc Id: ENST00000566490   ⟹   ENSP00000457867
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1615,434,475 - 15,587,972 (+)Ensembl
RefSeq Acc Id: ENST00000567550
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1615,434,588 - 15,581,392 (+)Ensembl
RefSeq Acc Id: ENST00000570249   ⟹   ENSP00000457319
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1615,434,536 - 15,581,318 (+)Ensembl
RefSeq Acc Id: NM_001142469   ⟹   NP_001135941
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,502,294 - 15,588,259 (+)NCBI
GRCh371615,528,325 - 15,682,116 (+)RGD
Celera1615,208,794 - 15,362,586 (+)RGD
HuRef1614,921,797 - 15,075,991 (+)RGD
CHM1_11615,680,484 - 15,766,478 (+)NCBI
T2T-CHM13v2.01615,507,088 - 15,593,064 (+)NCBI
Sequence:
RefSeq Acc Id: NM_033201   ⟹   NP_149978
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,434,588 - 15,588,259 (+)NCBI
GRCh371615,528,325 - 15,682,116 (+)RGD
Build 361615,435,826 - 15,589,418 (+)NCBI Archive
Celera1615,208,794 - 15,362,586 (+)RGD
HuRef1614,921,797 - 15,075,991 (+)RGD
CHM1_11615,612,671 - 15,766,478 (+)NCBI
T2T-CHM13v2.01615,439,375 - 15,593,064 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_149978   ⟸   NM_033201
- Peptide Label: isoform 1
- UniProtKB: Q8IZ36 (UniProtKB/Swiss-Prot),   O75769 (UniProtKB/Swiss-Prot),   O00223 (UniProtKB/Swiss-Prot),   Q96H25 (UniProtKB/Swiss-Prot),   Q96MC5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001135941   ⟸   NM_001142469
- Peptide Label: isoform 2
- UniProtKB: Q96MC5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000457319   ⟸   ENST00000570249
RefSeq Acc Id: ENSP00000408976   ⟸   ENST00000452191
RefSeq Acc Id: ENSP00000455130   ⟸   ENST00000561813
RefSeq Acc Id: ENSP00000457515   ⟸   ENST00000561692
RefSeq Acc Id: ENSP00000456219   ⟸   ENST00000564389
RefSeq Acc Id: ENSP00000300006   ⟸   ENST00000300006
RefSeq Acc Id: ENSP00000456084   ⟸   ENST00000565857
RefSeq Acc Id: ENSP00000457867   ⟸   ENST00000566490
Protein Domains
bMERB

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96MC5-F1-model_v2 AlphaFold Q96MC5 1-204 view protein structure

Promoters
RGD ID:7231399
Promoter ID:EPDNEW_H21446
Type:initiation region
Name:C16orf45_1
Description:chromosome 16 open reading frame 45
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21447  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,434,588 - 15,434,648EPDNEW
RGD ID:6792859
Promoter ID:HG_KWN:23116
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:OTTHUMT00000252130
Position:
Human AssemblyChrPosition (strand)Source
Build 361615,435,526 - 15,436,026 (+)MPROMDB
RGD ID:7231403
Promoter ID:EPDNEW_H21447
Type:initiation region
Name:C16orf45_2
Description:chromosome 16 open reading frame 45
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21446  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381615,502,200 - 15,502,260EPDNEW
RGD ID:6792860
Promoter ID:HG_KWN:23117
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_001142469
Position:
Human AssemblyChrPosition (strand)Source
Build 361615,503,491 - 15,503,991 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19213 AgrOrtholog
COSMIC BMERB1 COSMIC
Ensembl Genes ENSG00000166780 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000278823 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000300006 ENTREZGENE
  ENST00000300006.9 UniProtKB/Swiss-Prot
  ENST00000452191 ENTREZGENE
  ENST00000452191.6 UniProtKB/Swiss-Prot
  ENST00000561692.5 UniProtKB/TrEMBL
  ENST00000561813.5 UniProtKB/TrEMBL
  ENST00000564389.5 UniProtKB/TrEMBL
  ENST00000565857.1 UniProtKB/TrEMBL
  ENST00000566490.5 UniProtKB/TrEMBL
  ENST00000570249.5 UniProtKB/TrEMBL
  ENST00000610499.2 UniProtKB/Swiss-Prot
  ENST00000615273.4 UniProtKB/Swiss-Prot
  ENST00000631695.1 UniProtKB/TrEMBL
  ENST00000631883.1 UniProtKB/TrEMBL
  ENST00000632906.1 UniProtKB/TrEMBL
  ENST00000633657.1 UniProtKB/TrEMBL
  ENST00000633982.1 UniProtKB/TrEMBL
GTEx ENSG00000166780 GTEx
  ENSG00000278823 GTEx
HGNC ID HGNC:19213 ENTREZGENE
Human Proteome Map BMERB1 Human Proteome Map
InterPro bMERB_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C16orf45-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:89927 UniProtKB/Swiss-Prot
NCBI Gene 89927 ENTREZGENE
PANTHER BMERB DOMAIN-CONTAINING PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR22704 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DUF3585 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134973206 PharmGKB
PROSITE BMERB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DUF3585 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt H3BP34_HUMAN UniProtKB/TrEMBL
  H3BR56_HUMAN UniProtKB/TrEMBL
  H3BRF6_HUMAN UniProtKB/TrEMBL
  H3BTT5_HUMAN UniProtKB/TrEMBL
  H3BU79_HUMAN UniProtKB/TrEMBL
  H3BUY6_HUMAN UniProtKB/TrEMBL
  MERB1_HUMAN UniProtKB/Swiss-Prot
  O00223 ENTREZGENE
  O75769 ENTREZGENE
  Q8IZ36 ENTREZGENE
  Q96H25 ENTREZGENE
  Q96MC5 ENTREZGENE
UniProt Secondary O00223 UniProtKB/Swiss-Prot
  O75769 UniProtKB/Swiss-Prot
  Q8IZ36 UniProtKB/Swiss-Prot
  Q96H25 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-02-26 BMERB1  bMERB domain containing 1  C16orf45  chromosome 16 open reading frame 45  Symbol and/or name change 5135510 APPROVED