QPRT (quinolinate phosphoribosyltransferase) - Rat Genome Database

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Gene: QPRT (quinolinate phosphoribosyltransferase) Homo sapiens
Analyze
Symbol: QPRT
Name: quinolinate phosphoribosyltransferase
RGD ID: 1321139
HGNC Page HGNC:9755
Description: Enables identical protein binding activity and nicotinate-nucleotide diphosphorylase (carboxylating) activity. Acts upstream of or within quinolinate catabolic process. Located in extracellular exosome. Part of catalytic complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: epididymis secretory sperm binding protein Li 90n; HEL-S-90n; nicotinate-nucleotide pyrophosphorylase; nicotinate-nucleotide pyrophosphorylase (carboxylating); nicotinate-nucleotide pyrophosphorylase [carboxylating]; QAPRTase; QPRTase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381629,679,008 - 29,698,699 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1629,663,279 - 29,698,699 (+)EnsemblGRCh38hg38GRCh38
GRCh371629,690,329 - 29,710,020 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361629,597,942 - 29,616,816 (+)NCBINCBI36Build 36hg18NCBI36
Build 341629,597,941 - 29,616,813NCBI
Celera1673,086,675 - 73,105,568 (-)NCBICelera
Cytogenetic Map16p11.2NCBI
HuRef1627,351,724 - 27,370,618 (+)NCBIHuRef
CHM1_11630,702,266 - 30,721,120 (+)NCBICHM1_1
T2T-CHM13v2.01629,947,774 - 29,980,720 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-hydroxypropanoic acid  (EXP)
3-chloropropane-1,2-diol  (ISO)
4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid  (EXP)
acrylamide  (EXP)
actinomycin D  (EXP)
aflatoxin B1  (EXP)
alachlor  (ISO)
all-trans-retinoic acid  (EXP)
alpha-Zearalanol  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
avobenzone  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-naphthoflavone  (EXP,ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
cadmium dichloride  (EXP)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
cocaine  (ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP,ISO)
cytarabine  (EXP)
dimethylarsinous acid  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
flutamide  (ISO)
formaldehyde  (EXP)
furan  (ISO)
iodide salt  (ISO)
ivermectin  (EXP)
lidocaine  (ISO)
manganese(II) chloride  (ISO)
methamphetamine  (ISO)
methidathion  (ISO)
methylmercury chloride  (EXP)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
nicotinic acid  (ISO)
nitrofen  (ISO)
Nutlin-3  (EXP)
paracetamol  (EXP,ISO)
perfluorooctanoic acid  (ISO)
pirinixic acid  (ISO)
propiconazole  (ISO)
Propiverine  (ISO)
rac-lactic acid  (EXP)
resveratrol  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP,ISO)
Soman  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
thimerosal  (EXP)
thioacetamide  (ISO)
trichloroethene  (ISO)
triptonide  (ISO)
urethane  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

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

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

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. The secret life of NAD+: an old metabolite controlling new metabolic signaling pathways. Houtkooper RH, etal., Endocr Rev. 2010 Apr;31(2):194-223. doi: 10.1210/er.2009-0026. Epub 2009 Dec 9.
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. Basal ganglia lesions in the rat: effects on quinolinic acid metabolism. Schwarcz R, etal., Brain Res. 1989 Jun 19;490(1):103-9.
Additional References at PubMed
PMID:3409840   PMID:9473669   PMID:10721107   PMID:12477932   PMID:14702039   PMID:14704851   PMID:15342556   PMID:15489334   PMID:16189514   PMID:17868694   PMID:19321014   PMID:21873635  
PMID:21988832   PMID:23376485   PMID:23533145   PMID:24038671   PMID:24722188   PMID:25416956   PMID:25464930   PMID:26025142   PMID:26114426   PMID:26186194   PMID:26805589   PMID:27889611  
PMID:28514442   PMID:28581483   PMID:28724915   PMID:30443311   PMID:31536960   PMID:32238439   PMID:32249768   PMID:32296183   PMID:32716908   PMID:32963011   PMID:33306668   PMID:33731348  
PMID:33961781   PMID:35944360   PMID:37723185  


Genomics

Comparative Map Data
QPRT
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381629,679,008 - 29,698,699 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1629,663,279 - 29,698,699 (+)EnsemblGRCh38hg38GRCh38
GRCh371629,690,329 - 29,710,020 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361629,597,942 - 29,616,816 (+)NCBINCBI36Build 36hg18NCBI36
Build 341629,597,941 - 29,616,813NCBI
Celera1673,086,675 - 73,105,568 (-)NCBICelera
Cytogenetic Map16p11.2NCBI
HuRef1627,351,724 - 27,370,618 (+)NCBIHuRef
CHM1_11630,702,266 - 30,721,120 (+)NCBICHM1_1
T2T-CHM13v2.01629,947,774 - 29,980,720 (+)NCBIT2T-CHM13v2.0
Qprt
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397126,706,942 - 126,721,201 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7126,706,286 - 126,721,398 (-)EnsemblGRCm39 Ensembl
GRCm387127,107,770 - 127,122,029 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7127,107,114 - 127,122,226 (-)EnsemblGRCm38mm10GRCm38
MGSCv377134,251,284 - 134,265,543 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367126,898,918 - 126,913,177 (-)NCBIMGSCv36mm8
Celera7126,956,210 - 126,970,579 (-)NCBICelera
Cytogenetic Map7F3NCBI
cM Map769.33NCBI
Qprt
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81191,148,715 - 191,164,006 (-)NCBIGRCr8
mRatBN7.21181,718,189 - 181,733,486 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1181,718,190 - 181,733,486 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1190,069,579 - 190,084,822 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01197,255,666 - 197,270,909 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01189,924,049 - 189,939,606 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01198,544,262 - 198,559,556 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1198,544,262 - 198,559,568 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01205,534,747 - 205,550,129 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41186,358,523 - 186,374,681 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11186,508,404 - 186,524,562 (-)NCBI
Celera1179,371,205 - 179,386,496 (-)NCBICelera
Cytogenetic Map1q37NCBI
Qprt
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554937,224,983 - 7,242,852 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554937,225,472 - 7,243,078 (-)NCBIChiLan1.0ChiLan1.0
QPRT
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21830,429,278 - 30,448,926 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11635,778,256 - 35,796,841 (-)NCBINHGRI_mPanPan1
PanPan1.1 Ensembl1630,049,806 - 30,070,469 (+)Ensemblpanpan1.1panPan2
QPRT
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1617,778,664 - 17,794,110 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl617,779,439 - 17,794,035 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha619,355,777 - 19,371,193 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0617,913,305 - 17,928,517 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1617,712,824 - 17,728,246 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0617,628,300 - 17,643,725 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0617,944,000 - 17,959,189 (+)NCBIUU_Cfam_GSD_1.0
Qprt
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344124,647,145 - 124,665,262 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493650112,742,157 - 12,763,187 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493650112,743,634 - 12,763,068 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
QPRT
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl317,987,242 - 18,001,711 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1317,987,223 - 18,001,712 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2318,588,984 - 18,603,469 (-)NCBISscrofa10.2Sscrofa10.2susScr3
QPRT
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1526,953,980 - 26,970,120 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl526,950,391 - 26,970,079 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660682,548,157 - 2,573,292 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in QPRT
19 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16p11.2(chr16:29227272-30179247)x3 copy number gain See cases [RCV000050652] Chr16:29227272..30179247 [GRCh38]
Chr16:29238593..30190568 [GRCh37]
Chr16:29146094..30098069 [NCBI36]
Chr16:16p11.2
pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29227272-30179247)x1 copy number loss See cases [RCV000050653] Chr16:29227272..30179247 [GRCh38]
Chr16:29238593..30190568 [GRCh37]
Chr16:29146094..30098069 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29581462-30179247)x3 copy number gain See cases [RCV000050591] Chr16:29581462..30179247 [GRCh38]
Chr16:29592783..30190568 [GRCh37]
Chr16:29500284..30098069 [NCBI36]
Chr16:16p11.2
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29581462-30179247)x1 copy number loss See cases [RCV000050595] Chr16:29581462..30179247 [GRCh38]
Chr16:29592783..30190568 [GRCh37]
Chr16:29500284..30098069 [NCBI36]
Chr16:16p11.2
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29581462-30321260)x1 copy number loss See cases [RCV000050431] Chr16:29581462..30321260 [GRCh38]
Chr16:29592783..30332581 [GRCh37]
Chr16:29500284..30240082 [NCBI36]
Chr16:16p11.2
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29662633-30179247)x3 copy number gain See cases [RCV000050432] Chr16:29662633..30179247 [GRCh38]
Chr16:29673954..30190568 [GRCh37]
Chr16:29581455..30098069 [NCBI36]
Chr16:16p11.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29662633-30179247)x1 copy number loss See cases [RCV000050433] Chr16:29662633..30179247 [GRCh38]
Chr16:29673954..30190568 [GRCh37]
Chr16:29581455..30098069 [NCBI36]
Chr16:16p11.2
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29227272-30321260)x3 copy number gain See cases [RCV000051168] Chr16:29227272..30321260 [GRCh38]
Chr16:29238593..30332581 [GRCh37]
Chr16:29146094..30240082 [NCBI36]
Chr16:16p11.2
pathogenic|uncertain significance
GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3 copy number gain See cases [RCV000052401] Chr16:23047969..30632245 [GRCh38]
Chr16:23059290..30643566 [GRCh37]
Chr16:22966791..30551067 [NCBI36]
Chr16:16p12.2-11.2
pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28456967-30295107)x1 copy number loss See cases [RCV000052520] Chr16:28456967..30295107 [GRCh38]
Chr16:28468288..30306428 [GRCh37]
Chr16:28375789..30213929 [NCBI36]
Chr16:16p12.1-11.2
pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x1 copy number loss See cases [RCV000054252] Chr16:28492482..30179247 [GRCh38]
Chr16:28503803..30190568 [GRCh37]
Chr16:28411304..30098069 [NCBI36]
Chr16:16p12.1-11.2
pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:28531783-30183432)x1 copy number loss See cases [RCV000054253] Chr16:28531783..30183432 [GRCh38]
Chr16:28543104..30194753 [GRCh37]
Chr16:28450605..30102254 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29441012-30183432)x3 copy number gain See cases [RCV000054255] Chr16:29441012..30183432 [GRCh38]
Chr16:29452333..30194753 [GRCh37]
Chr16:29359834..30102254 [NCBI36]
Chr16:16p11.2
pathogenic|uncertain significance
GRCh38/hg38 16p12.1-11.2(chr16:28366111-30183432)x3 copy number gain See cases [RCV000054346] Chr16:28366111..30183432 [GRCh38]
Chr16:28377432..30194753 [GRCh37]
Chr16:28284933..30102254 [NCBI36]
Chr16:16p12.1-11.2
pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29086504-30333716)x3 copy number gain See cases [RCV000054347] Chr16:29086504..30333716 [GRCh38]
Chr16:29097825..30345037 [GRCh37]
Chr16:29005326..30252538 [NCBI36]
Chr16:16p11.2
pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29441012-30183432)x1 copy number loss See cases [RCV000054256] Chr16:29441012..30183432 [GRCh38]
Chr16:29452333..30194753 [GRCh37]
Chr16:29359834..30102254 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29566441-30187279)x1 copy number loss See cases [RCV000054258] Chr16:29566441..30187279 [GRCh38]
Chr16:29577762..30198600 [GRCh37]
Chr16:29485263..30106101 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29581262-30179388)x1 copy number loss See cases [RCV000054260] Chr16:29581262..30179388 [GRCh38]
Chr16:29592583..30190709 [GRCh37]
Chr16:29500084..30098210 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29170620-30179388)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054348]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054348]|See cases [RCV000054348] Chr16:29170620..30179388 [GRCh38]
Chr16:29181941..30190709 [GRCh37]
Chr16:29089442..30098210 [NCBI36]
Chr16:16p11.2
pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29581462-30162533)x1 copy number loss See cases [RCV000054264] Chr16:29581462..30162533 [GRCh38]
Chr16:29592783..30173854 [GRCh37]
Chr16:29500284..30081355 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29645363-30183432)x3 copy number gain See cases [RCV000054266] Chr16:29645363..30183432 [GRCh38]
Chr16:29656684..30194753 [GRCh37]
Chr16:29564185..30102254 [NCBI36]
Chr16:16p11.2
pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29645363-30183432)x1 copy number loss See cases [RCV000054267] Chr16:29645363..30183432 [GRCh38]
Chr16:29656684..30194753 [GRCh37]
Chr16:29564185..30102254 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29170820-30179247)x3 copy number gain See cases [RCV000054364] Chr16:29170820..30179247 [GRCh38]
Chr16:29182141..30190568 [GRCh37]
Chr16:29089642..30098069 [NCBI36]
Chr16:16p11.2
pathogenic|likely pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29227072-30179388)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054365]|Global developmental delay [RCV000054366]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054365]|See cases [RCV000054365] Chr16:29227072..30179388 [GRCh38]
Chr16:29238393..30190709 [GRCh37]
Chr16:29145894..30098210 [NCBI36]
Chr16:16p11.2
pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29441012-30323310)x3 copy number gain See cases [RCV000054367] Chr16:29441012..30323310 [GRCh38]
Chr16:29452333..30334631 [GRCh37]
Chr16:29359834..30242132 [NCBI36]
Chr16:16p11.2
pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29566440-30187279)x3 copy number gain See cases [RCV000054369] Chr16:29566440..30187279 [GRCh38]
Chr16:29577761..30198600 [GRCh37]
Chr16:29485262..30106101 [NCBI36]
Chr16:16p11.2
pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29653208-30162533)x3 copy number gain See cases [RCV000054288] Chr16:29653208..30162533 [GRCh38]
Chr16:29664529..30173854 [GRCh37]
Chr16:29572030..30081355 [NCBI36]
Chr16:16p11.2
pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29653208-30162533)x1 copy number loss See cases [RCV000054290] Chr16:29653208..30162533 [GRCh38]
Chr16:29664529..30173854 [GRCh37]
Chr16:29572030..30081355 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29662433-30179388)x3 copy number gain Seizures [RCV000054291]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054292]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054292]|See cases [RCV000054291] Chr16:29662433..30179388 [GRCh38]
Chr16:29673754..30190709 [GRCh37]
Chr16:29581255..30098210 [NCBI36]
Chr16:16p11.2
pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29600893-30187279)x3 copy number gain See cases [RCV000054370] Chr16:29600893..30187279 [GRCh38]
Chr16:29612214..30198600 [GRCh37]
Chr16:29519715..30106101 [NCBI36]
Chr16:16p11.2
pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29645363-30323310)x3 copy number gain See cases [RCV000054371] Chr16:29645363..30323310 [GRCh38]
Chr16:29656684..30334631 [GRCh37]
Chr16:29564185..30242132 [NCBI36]
Chr16:16p11.2
pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29662633-30321260)x3 copy number gain See cases [RCV000054372] Chr16:29662633..30321260 [GRCh38]
Chr16:29673954..30332581 [GRCh37]
Chr16:29581455..30240082 [NCBI36]
Chr16:16p11.2
pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29662633-30179388)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054373]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054373]|See cases [RCV000054373] Chr16:29662633..30179388 [GRCh38]
Chr16:29673954..30190709 [GRCh37]
Chr16:29581455..30098210 [NCBI36]
Chr16:16p11.2
pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29662635-30186020)x3 copy number gain See cases [RCV000054374] Chr16:29662635..30186020 [GRCh38]
Chr16:29673956..30197341 [GRCh37]
Chr16:29581457..30104842 [NCBI36]
Chr16:16p11.2
pathogenic|likely pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29662433-30179388)x1 copy number loss See cases [RCV000054293] Chr16:29662433..30179388 [GRCh38]
Chr16:29673754..30190709 [GRCh37]
Chr16:29581255..30098210 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29662633-30187279)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054299]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054299]|See cases [RCV000054299] Chr16:29662633..30187279 [GRCh38]
Chr16:29673954..30198600 [GRCh37]
Chr16:16p11.2
pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29662633-30187279)x1 copy number loss See cases [RCV000054300] Chr16:29662633..30187279 [GRCh38]
Chr16:29673954..30198600 [GRCh37]
Chr16:29581455..30106101 [NCBI36]
Chr16:16p11.2
pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29662635-30187279)x3 copy number gain See cases [RCV000054302] Chr16:29662635..30187279 [GRCh38]
Chr16:29673956..30198600 [GRCh37]
Chr16:29581457..30106101 [NCBI36]
Chr16:16p11.2
pathogenic|likely pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29662635-30187279)x1 copy number loss See cases [RCV000054303] Chr16:29662635..30187279 [GRCh38]
Chr16:29673956..30198600 [GRCh37]
Chr16:29581457..30106101 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29662635-30108438)x1 copy number loss See cases [RCV000054305] Chr16:29662635..30108438 [GRCh38]
Chr16:29673956..30119759 [GRCh37]
Chr16:29581457..30027260 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29663527-30183432)x1 copy number loss See cases [RCV000054307] Chr16:29663527..30183432 [GRCh38]
Chr16:29674848..30194753 [GRCh37]
Chr16:29582349..30102254 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29652999-30198600) copy number loss Abnormal fetal cardiovascular morphology [RCV001291971] Chr16:29652999..30198600 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29662633-30187279)x3 copy number gain See cases [RCV000054299] Chr16:29662633..30187279 [GRCh38]
Chr16:29673954..30198600 [GRCh37]
Chr16:29581455..30106101 [NCBI36]
Chr16:16p11.2
likely pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29645363-30185969)x1 copy number loss See cases [RCV000134450] Chr16:29645363..30185969 [GRCh38]
Chr16:29656684..30197290 [GRCh37]
Chr16:29564185..30104791 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29662633-30179188)x1 copy number loss See cases [RCV000134452] Chr16:29662633..30179188 [GRCh38]
Chr16:29673954..30190509 [GRCh37]
Chr16:29581455..30098010 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29634999-30185969)x1 copy number loss See cases [RCV000134460] Chr16:29634999..30185969 [GRCh38]
Chr16:29646320..30197290 [GRCh37]
Chr16:29553821..30104791 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29466738-30179247)x1 copy number loss See cases [RCV000133991] Chr16:29466738..30179247 [GRCh38]
Chr16:29478059..30190568 [GRCh37]
Chr16:29385560..30098069 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29609368-30179188)x3 copy number gain See cases [RCV000135284] Chr16:29609368..30179188 [GRCh38]
Chr16:29620689..30190509 [GRCh37]
Chr16:29528190..30098010 [NCBI36]
Chr16:16p11.2
likely pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x3 copy number gain See cases [RCV000135765] Chr16:28492482..30179247 [GRCh38]
Chr16:28503803..30190568 [GRCh37]
Chr16:28411304..30098069 [NCBI36]
Chr16:16p12.1-11.2
pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29662633-30321260)x1 copy number loss See cases [RCV000135768] Chr16:29662633..30321260 [GRCh38]
Chr16:29673954..30332581 [GRCh37]
Chr16:29581455..30240082 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29581462-30691912)x1 copy number loss See cases [RCV000135589] Chr16:29581462..30691912 [GRCh38]
Chr16:29592783..30703233 [GRCh37]
Chr16:29500284..30610734 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29581462-30321260)x3 copy number gain See cases [RCV000135445] Chr16:29581462..30321260 [GRCh38]
Chr16:29592783..30332581 [GRCh37]
Chr16:29500284..30240082 [NCBI36]
Chr16:16p11.2
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29662633-30186020)x1 copy number loss See cases [RCV000136137] Chr16:29662633..30186020 [GRCh38]
Chr16:29673954..30197341 [GRCh37]
Chr16:29581455..30104842 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29662646-30321248)x3 copy number gain See cases [RCV000135976] Chr16:29662646..30321248 [GRCh38]
Chr16:29673967..30332569 [GRCh37]
Chr16:29581468..30240070 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29318115-30179272)x3 copy number gain See cases [RCV000136065] Chr16:29318115..30179272 [GRCh38]
Chr16:29329436..30190593 [GRCh37]
Chr16:29236937..30098094 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29466738-30320693)x3 copy number gain See cases [RCV000137516] Chr16:29466738..30320693 [GRCh38]
Chr16:29478059..30332014 [GRCh37]
Chr16:29385560..30239515 [NCBI36]
Chr16:16p11.2
likely pathogenic|conflicting data from submitters
GRCh38/hg38 16p12.1-11.2(chr16:28392832-30186020)x1 copy number loss See cases [RCV000137580] Chr16:28392832..30186020 [GRCh38]
Chr16:28404153..30197341 [GRCh37]
Chr16:28311654..30104842 [NCBI36]
Chr16:16p12.1-11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29645363-30321270)x3 copy number gain See cases [RCV000137446] Chr16:29645363..30321270 [GRCh38]
Chr16:29656684..30332591 [GRCh37]
Chr16:29564185..30240092 [NCBI36]
Chr16:16p11.2
likely pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29427948-30320693)x3 copy number gain See cases [RCV000137618] Chr16:29427948..30320693 [GRCh38]
Chr16:29439269..30332014 [GRCh37]
Chr16:29346770..30239515 [NCBI36]
Chr16:16p11.2
likely pathogenic
GRCh38/hg38 16p11.2(chr16:29579233-30179247)x1 copy number loss See cases [RCV000138036] Chr16:29579233..30179247 [GRCh38]
Chr16:29590554..30190568 [GRCh37]
Chr16:29498055..30098069 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29579233-30179247)x3 copy number gain See cases [RCV000138032] Chr16:29579233..30179247 [GRCh38]
Chr16:29590554..30190568 [GRCh37]
Chr16:29498055..30098069 [NCBI36]
Chr16:16p11.2
likely pathogenic
GRCh38/hg38 16p11.2(chr16:29466738-30186020)x3 copy number gain See cases [RCV000138440] Chr16:29466738..30186020 [GRCh38]
Chr16:29478059..30197341 [GRCh37]
Chr16:29385560..30104842 [NCBI36]
Chr16:16p11.2
likely pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29579233-30186020)x3 copy number gain See cases [RCV000138442] Chr16:29579233..30186020 [GRCh38]
Chr16:29590554..30197341 [GRCh37]
Chr16:29498055..30104842 [NCBI36]
Chr16:16p11.2
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29579233-30186020)x1 copy number loss See cases [RCV000138443] Chr16:29579233..30186020 [GRCh38]
Chr16:29590554..30197341 [GRCh37]
Chr16:29498055..30104842 [NCBI36]
Chr16:16p11.2
pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29645363-30186020)x3 copy number gain See cases [RCV000138342] Chr16:29645363..30186020 [GRCh38]
Chr16:29656684..30197341 [GRCh37]
Chr16:29564185..30104842 [NCBI36]
Chr16:16p11.2
likely pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29645363-30186020)x1 copy number loss See cases [RCV000138343] Chr16:29645363..30186020 [GRCh38]
Chr16:29656684..30197341 [GRCh37]
Chr16:29564185..30104842 [NCBI36]
Chr16:16p11.2
pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29318115-30321248)x3 copy number gain See cases [RCV000138501] Chr16:29318115..30321248 [GRCh38]
Chr16:29329436..30332569 [GRCh37]
Chr16:29236937..30240070 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29581470-30179272)x1 copy number loss See cases [RCV000138508] Chr16:29581470..30179272 [GRCh38]
Chr16:29592791..30190593 [GRCh37]
Chr16:29500292..30098094 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29579233-30320693)x3 copy number gain See cases [RCV000139248] Chr16:29579233..30320693 [GRCh38]
Chr16:29590554..30332014 [GRCh37]
Chr16:29498055..30239515 [NCBI36]
Chr16:16p11.2
likely pathogenic
GRCh38/hg38 16p11.2(chr16:29579233-30320693)x1 copy number loss See cases [RCV000139249] Chr16:29579233..30320693 [GRCh38]
Chr16:29590554..30332014 [GRCh37]
Chr16:29498055..30239515 [NCBI36]
Chr16:16p11.2
pathogenic|likely pathogenic
GRCh38/hg38 16p11.2(chr16:29466739-30321248)x3 copy number gain See cases [RCV000139095] Chr16:29466739..30321248 [GRCh38]
Chr16:29478060..30332569 [GRCh37]
Chr16:29385561..30240070 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29609368-30320693)x3 copy number gain See cases [RCV000139032] Chr16:29609368..30320693 [GRCh38]
Chr16:29620689..30332014 [GRCh37]
Chr16:29528190..30239515 [NCBI36]
Chr16:16p11.2
likely pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28392832-30320693)x1 copy number loss See cases [RCV000139916] Chr16:28392832..30320693 [GRCh38]
Chr16:28404153..30332014 [GRCh37]
Chr16:28311654..30239515 [NCBI36]
Chr16:16p12.1-11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30308986)x1 copy number loss See cases [RCV000140452] Chr16:29555974..30308986 [GRCh38]
Chr16:29567295..30320307 [GRCh37]
Chr16:29474796..30227808 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29581462-30185969)x3 copy number gain See cases [RCV000140510] Chr16:29581462..30185969 [GRCh38]
Chr16:29592783..30197290 [GRCh37]
Chr16:29500284..30104791 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29581462-29720976)x4 copy number gain See cases [RCV000140294] Chr16:29581462..29720976 [GRCh38]
Chr16:29592783..29732297 [GRCh37]
Chr16:29500284..29639798 [NCBI36]
Chr16:16p11.2
likely benign
GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3 copy number gain See cases [RCV000140341] Chr16:27311746..31193406 [GRCh38]
Chr16:27323067..31204727 [GRCh37]
Chr16:27230568..31112228 [NCBI36]
Chr16:16p12.1-11.2
pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3 copy number gain See cases [RCV000141141] Chr16:23752047..31943755 [GRCh38]
Chr16:23763368..31955076 [GRCh37]
Chr16:23670869..31862577 [NCBI36]
Chr16:16p12.2-11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29427948-30186020)x1 copy number loss See cases [RCV000141285] Chr16:29427948..30186020 [GRCh38]
Chr16:29439269..30197341 [GRCh37]
Chr16:29346770..30104842 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29609368-30185969)x1 copy number loss See cases [RCV000141120] Chr16:29609368..30185969 [GRCh38]
Chr16:29620689..30197290 [GRCh37]
Chr16:29528190..30104791 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30215609)x1 copy number loss See cases [RCV000140887] Chr16:29555974..30215609 [GRCh38]
Chr16:29567295..30226930 [GRCh37]
Chr16:29474796..30134431 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29568699-30166595)x1 copy number loss See cases [RCV000141992] Chr16:29568699..30166595 [GRCh38]
Chr16:29580020..30177916 [GRCh37]
Chr16:29487521..30085417 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29506377-30180527)x3 copy number gain See cases [RCV000141993] Chr16:29506377..30180527 [GRCh38]
Chr16:29517698..30191848 [GRCh37]
Chr16:29425199..30099349 [NCBI36]
Chr16:16p11.2
likely pathogenic
GRCh38/hg38 16p11.2(chr16:29568699-30295634)x3 copy number gain See cases [RCV000141947] Chr16:29568699..30295634 [GRCh38]
Chr16:29580020..30306955 [GRCh37]
Chr16:29487521..30214456 [NCBI36]
Chr16:16p11.2
likely pathogenic
GRCh38/hg38 16p11.2(chr16:29568699-30166678)x1 copy number loss See cases [RCV000141749] Chr16:29568699..30166678 [GRCh38]
Chr16:29580020..30177999 [GRCh37]
Chr16:29487521..30085500 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29569779-30228906)x3 copy number gain See cases [RCV000141682] Chr16:29569779..30228906 [GRCh38]
Chr16:29581100..30240227 [GRCh37]
Chr16:29488601..30147728 [NCBI36]
Chr16:16p11.2
likely pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30309999)x1 copy number loss See cases [RCV000141685] Chr16:29555974..30309999 [GRCh38]
Chr16:29567295..30321320 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29555975-30180527)x3 copy number gain See cases [RCV000142335] Chr16:29555975..30180527 [GRCh38]
Chr16:29567296..30191848 [GRCh37]
Chr16:29474797..30099349 [NCBI36]
Chr16:16p11.2
likely pathogenic
GRCh38/hg38 16p11.2(chr16:29662646-30179272)x1 copy number loss See cases [RCV000142500] Chr16:29662646..30179272 [GRCh38]
Chr16:29673967..30190593 [GRCh37]
Chr16:29581468..30098094 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29506377-30165919)x3 copy number gain See cases [RCV000142063] Chr16:29506377..30165919 [GRCh38]
Chr16:29517698..30177240 [GRCh37]
Chr16:29425199..30084741 [NCBI36]
Chr16:16p11.2
likely pathogenic
GRCh38/hg38 16p11.2(chr16:29513831-30206791)x1 copy number loss See cases [RCV000142087] Chr16:29513831..30206791 [GRCh38]
Chr16:29525152..30218112 [GRCh37]
Chr16:29432653..30125613 [NCBI36]
Chr16:16p11.2
uncertain significance
GRCh38/hg38 16p11.2(chr16:29555974-30178708)x1 copy number loss See cases [RCV000142045] Chr16:29555974..30178708 [GRCh38]
Chr16:29567295..30190029 [GRCh37]
Chr16:29474796..30097530 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29682770-30186020)x3 copy number gain See cases [RCV000142875] Chr16:29682770..30186020 [GRCh38]
Chr16:29694091..30197341 [GRCh37]
Chr16:29601592..30104842 [NCBI36]
Chr16:16p11.2
likely pathogenic
GRCh38/hg38 16p11.2(chr16:29581470-30321248)x3 copy number gain See cases [RCV000142929] Chr16:29581470..30321248 [GRCh38]
Chr16:29592791..30332569 [GRCh37]
Chr16:29500292..30240070 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30166595)x1 copy number loss See cases [RCV000143363] Chr16:29555974..30166595 [GRCh38]
Chr16:29567295..30177916 [GRCh37]
Chr16:29474796..30085417 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29579757-30228906)x3 copy number gain See cases [RCV000143364] Chr16:29579757..30228906 [GRCh38]
Chr16:29591078..30240227 [GRCh37]
Chr16:29498579..30147728 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29568699-30228906)x3 copy number gain See cases [RCV000143431] Chr16:29568699..30228906 [GRCh38]
Chr16:29580020..30240227 [GRCh37]
Chr16:29487521..30147728 [NCBI36]
Chr16:16p11.2
likely pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30309999)x3 copy number gain See cases [RCV000143386] Chr16:29555974..30309999 [GRCh38]
Chr16:29567295..30321320 [GRCh37]
Chr16:29474796..30228821 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29598613-30165919)x3 copy number gain See cases [RCV000143305] Chr16:29598613..30165919 [GRCh38]
Chr16:29609934..30177240 [GRCh37]
Chr16:29517435..30084741 [NCBI36]
Chr16:16p11.2
likely pathogenic
GRCh38/hg38 16p11.2(chr16:29420891-30166595)x1 copy number loss See cases [RCV000143228] Chr16:29420891..30166595 [GRCh38]
Chr16:29432212..30177916 [GRCh37]
Chr16:29339713..30085417 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30166486)x1 copy number loss See cases [RCV000143670] Chr16:29555974..30166486 [GRCh38]
Chr16:29567295..30177807 [GRCh37]
Chr16:29474796..30085308 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29627319-30165919)x3 copy number gain See cases [RCV000143581] Chr16:29627319..30165919 [GRCh38]
Chr16:29638640..30177240 [GRCh37]
Chr16:29546141..30084741 [NCBI36]
Chr16:16p11.2
likely pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30166678)x1 copy number loss See cases [RCV000143478] Chr16:29555974..30166678 [GRCh38]
Chr16:29567295..30177999 [GRCh37]
Chr16:29474796..30085500 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30167085)x1 copy number loss See cases [RCV000143457] Chr16:29555974..30167085 [GRCh38]
Chr16:29567295..30178406 [GRCh37]
Chr16:29474796..30085907 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29581462-30321260)x1 copy number loss See cases [RCV000148288] Chr16:29581462..30321260 [GRCh38]
Chr16:29592783..30332581 [GRCh37]
Chr16:29500284..30240082 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29662633-30179247)x1 copy number loss See cases [RCV000148134] Chr16:29662633..30179247 [GRCh38]
Chr16:29673954..30190568 [GRCh37]
Chr16:29581455..30098069 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29662633-30179247)x3 copy number gain See cases [RCV000148254]|See cases [RCV000509065] Chr16:29662633..30179247 [GRCh38]
Chr16:29673954..30190568 [GRCh37]
Chr16:29581455..30098069 [NCBI36]
Chr16:16p11.2
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x1 copy number loss See cases [RCV000148148] Chr16:28492482..30179247 [GRCh38]
Chr16:28503803..30190568 [GRCh37]
Chr16:28411304..30098069 [NCBI36]
Chr16:16p12.1-11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29662633-30187279)x1 copy number loss See cases [RCV000148157] Chr16:29662633..30187279 [GRCh38]
Chr16:29673954..30198600 [GRCh37]
Chr16:29581455..30106101 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29170820-30179247)x3 copy number gain See cases [RCV000148119] Chr16:29170820..30179247 [GRCh38]
Chr16:29182141..30190568 [GRCh37]
Chr16:29089642..30098069 [NCBI36]
Chr16:16p11.2
uncertain significance
GRCh38/hg38 16p11.2(chr16:29662633-30321260)x3 copy number gain See cases [RCV000148123] Chr16:29662633..30321260 [GRCh38]
Chr16:29673954..30332581 [GRCh37]
Chr16:29581455..30240082 [NCBI36]
Chr16:16p11.2
uncertain significance
GRCh38/hg38 16p11.2(chr16:29227272-30179247)x3 copy number gain See cases [RCV000148125] Chr16:29227272..30179247 [GRCh38]
Chr16:29238593..30190568 [GRCh37]
Chr16:29146094..30098069 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29227272-30179247)x1 copy number loss See cases [RCV000148095] Chr16:29227272..30179247 [GRCh38]
Chr16:29238593..30190568 [GRCh37]
Chr16:29146094..30098069 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29581462-30179247)x3 copy number gain See cases [RCV000148096] Chr16:29581462..30179247 [GRCh38]
Chr16:29592783..30190568 [GRCh37]
Chr16:29500284..30098069 [NCBI36]
Chr16:16p11.2
pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29581462-30179247)x1 copy number loss See cases [RCV000148097] Chr16:29581462..30179247 [GRCh38]
Chr16:29592783..30190568 [GRCh37]
Chr16:29500284..30098069 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29060171-30197341)x3 copy number gain See cases [RCV000240123] Chr16:29060171..30197341 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29060171-30195607)x3 copy number gain See cases [RCV000239797] Chr16:29060171..30195607 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3 copy number gain Breast ductal adenocarcinoma [RCV000207226] Chr16:19590412..29814175 [GRCh37]
Chr16:16p12.3-11.2
uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2
uncertain significance
NC_000016.10:g.(?_29506378)_(30180574_?)dup duplication Autism spectrum disorder [RCV000208737] Chr16:29506378..30180574 [GRCh38]
Chr16:29517699..30191895 [GRCh37]
Chr16:16p11.2
likely pathogenic
NC_000016.10:g.(?_29506378)_(30180574_?)del deletion Autism spectrum disorder [RCV000208742] Chr16:29506378..30180574 [GRCh38]
Chr16:29517699..30191895 [GRCh37]
Chr16:16p11.2
likely pathogenic
Single allele deletion Spondylocostal dysostosis 5 [RCV000235056] Chr16:29651599..30199709 [GRCh37]
Chr16:16p11.2
pathogenic
NC_000016.10:g.(?_29602174)_(30178709_?)dup duplication Autism spectrum disorder [RCV000208719] Chr16:29602174..30178709 [GRCh38]
Chr16:29613495..30190030 [GRCh37]
Chr16:16p11.2
likely pathogenic
NC_000016.10:g.(?_29685652)_(30180586_?)dup duplication Autism spectrum disorder [RCV000208725] Chr16:29685652..30180586 [GRCh38]
Chr16:29696973..30191907 [GRCh37]
Chr16:16p11.2
likely pathogenic
NC_000016.10:g.(?_29390980)_(30215610_?)dup duplication Autism spectrum disorder [RCV000208728] Chr16:29390980..30215610 [GRCh38]
Chr16:29402301..30226931 [GRCh37]
Chr16:16p11.2
likely pathogenic
GRCh37/hg19 16p11.2(chr16:29412503-30215621)x1 copy number loss See cases [RCV000239420] Chr16:29412503..30215621 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29646320-30197341)x3 copy number gain See cases [RCV000240419] Chr16:29646320..30197341 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29656684-30197341)x3 copy number gain See cases [RCV000240533] Chr16:29656684..30197341 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29646320-30197341)x1 copy number loss See cases [RCV000240290] Chr16:29646320..30197341 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29656684-30197341)x1 copy number loss See cases [RCV000240312] Chr16:29656684..30197341 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29567296-30177807)x1 copy number loss Dysmorphic features [RCV002282737] Chr16:29567296..30177807 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p11.2(chr16:29432212-30177807)x1 copy number loss See cases [RCV002285052] Chr16:29432212..30177807 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29591078-30177916)x3 copy number gain See cases [RCV000449091] Chr16:29591078..30177916 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3 copy number gain See cases [RCV000449403] Chr16:19424115..30142220 [GRCh37]
Chr16:16p12.3-11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29609934-30177916)x3 copy number gain See cases [RCV000446581] Chr16:29609934..30177916 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29580020-30177240)x1 copy number loss See cases [RCV000446623] Chr16:29580020..30177240 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29646320-30197290)x3 copy number gain See cases [RCV000447343] Chr16:29646320..30197290 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:28486693-30197290)x1 copy number loss See cases [RCV000447001] Chr16:28486693..30197290 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29567295-30177807)x1 copy number loss See cases [RCV000446546] Chr16:29567295..30177807 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p11.2(chr16:29567295-30177916)x1 copy number loss See cases [RCV000446174] Chr16:29567295..30177916 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29597822-30240227)x3 copy number gain See cases [RCV000446189] Chr16:29597822..30240227 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29421694-30344958)x3 copy number gain See cases [RCV000446565] Chr16:29421694..30344958 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29567295-30177240)x3 copy number gain See cases [RCV000445670] Chr16:29567295..30177240 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29351826-30191848)x1 copy number loss See cases [RCV000445672] Chr16:29351826..30191848 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29656684-30197290)x3 copy number gain See cases [RCV000445935] Chr16:29656684..30197290 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29432212-30177240)x3 copy number gain See cases [RCV000448489] Chr16:29432212..30177240 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29567295-30178406)x1 copy number loss See cases [RCV000448244] Chr16:29567295..30178406 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29567295-30177999)x1 copy number loss See cases [RCV000448616] Chr16:29567295..30177999 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29432212-30332125)x3 copy number gain See cases [RCV000448891] Chr16:29432212..30332125 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29656684-30197290)x4 copy number gain See cases [RCV000448726] Chr16:29656684..30197290 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29432212-30226930)x1 copy number loss See cases [RCV000448182] Chr16:29432212..30226930 [GRCh37]
Chr16:16p11.2
pathogenic
NC_000016.10:g.(?_29646068)_(30181241_?)dup duplication Schizophrenia [RCV000416705] Chr16:29646068..30181241 [GRCh38]
Chr16:29657389..30192562 [GRCh37]
Chr16:29564890..30100063 [NCBI36]
Chr16:16p11.2
pathogenic
NC_000016.10:g.(?_29620718)_(30181241_?)dup duplication Schizophrenia [RCV000416730] Chr16:29620718..30181241 [GRCh38]
Chr16:29632039..30192562 [GRCh37]
Chr16:29539540..30100063 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29060171-30197290)x3 copy number gain See cases [RCV000448328] Chr16:29060171..30197290 [GRCh37]
Chr16:16p11.2
pathogenic
NC_000016.10:g.(?_29634955)_(30181241_?)dup duplication Schizophrenia [RCV000416835] Chr16:29634955..30181241 [GRCh38]
Chr16:29646276..30192562 [GRCh37]
Chr16:29553777..30100063 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29597822-30177240)x1 copy number loss See cases [RCV000448430] Chr16:29597822..30177240 [GRCh37]
Chr16:16p11.2
pathogenic
NC_000016.10:g.(?_29634955)_(30181241_?)del deletion Schizophrenia [RCV000416902] Chr16:29634955..30181241 [GRCh38]
Chr16:29646276..30192562 [GRCh37]
Chr16:29553777..30100063 [NCBI36]
Chr16:16p11.2
likely pathogenic
GRCh37/hg19 16p11.2(chr16:29626499-30177240)x3 copy number gain See cases [RCV000448771] Chr16:29626499..30177240 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1 copy number loss See cases [RCV000448084] Chr16:28826162..29043901 [GRCh37]
Chr16:16p11.2
likely pathogenic
GRCh37/hg19 16p11.2(chr16:29624765-30197290)x3 copy number gain See cases [RCV000448360] Chr16:29624765..30197290 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29567296-30177999)x1 copy number loss See cases [RCV000512080] Chr16:29567296..30177999 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29571473-30243606)x3 copy number gain See cases [RCV000512126] Chr16:29571473..30243606 [GRCh37]
Chr16:16p11.2
likely pathogenic
GRCh37/hg19 16p11.2(chr16:29421662-30240227)x3 copy number gain See cases [RCV000510272] Chr16:29421662..30240227 [GRCh37]
Chr16:16p11.2
likely pathogenic
GRCh37/hg19 16p11.2(chr16:29517698-30243606)x3 copy number gain See cases [RCV000510455] Chr16:29517698..30243606 [GRCh37]
Chr16:16p11.2
likely pathogenic
GRCh37/hg19 16p11.2(chr16:29567295-30177240)x1 copy number loss See cases [RCV000511917] Chr16:29567295..30177240 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3
uncertain significance
GRCh37/hg19 16p11.2(chr16:29567295-30243606)x1 copy number loss See cases [RCV000511706] Chr16:29567295..30243606 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:28441538-30178406)x1 copy number loss See cases [RCV000511533] Chr16:28441538..30178406 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29591078-30302348)x3 copy number gain See cases [RCV000511723] Chr16:29591078..30302348 [GRCh37]
Chr16:16p11.2
likely pathogenic
GRCh37/hg19 16p11.2(chr16:29421694-30240227)x3 copy number gain See cases [RCV000511586] Chr16:29421694..30240227 [GRCh37]
Chr16:16p11.2
likely pathogenic
GRCh37/hg19 16p11.2(chr16:29567296-30177807)x1 copy number loss See cases [RCV000511641] Chr16:29567296..30177807 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29580020-30177240)x3 copy number gain See cases [RCV000511833] Chr16:29580020..30177240 [GRCh37]
Chr16:16p11.2
likely pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21596299-30399167)x1 copy number loss See cases [RCV000511271] Chr16:21596299..30399167 [GRCh37]
Chr16:16p12.2-11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29591078-30177240)x3 copy number gain See cases [RCV000511274] Chr16:29591078..30177240 [GRCh37]
Chr16:16p11.2
likely pathogenic
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29567296-30178406)x1 copy number loss See cases [RCV000511288] Chr16:29567296..30178406 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29580020-30191848)x3 copy number gain See cases [RCV000511005] Chr16:29580020..30191848 [GRCh37]
Chr16:16p11.2
likely pathogenic
GRCh37/hg19 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 16p11.2(chr16:29042050-30199025) copy number loss Proximal 16p11.2 microdeletion syndrome [RCV000767610] Chr16:29042050..30199025 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29532264-30271237) copy number gain Chromosome 16p11.2 duplication syndrome [RCV000767611] Chr16:29532264..30271237 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29656684-30197341) copy number gain Abnormality of the eye [RCV000626509] Chr16:29656684..30197341 [GRCh37]
Chr16:16p11.2
likely pathogenic
GRCh37/hg19 16p11.2(chr16:29592783-30190568) copy number loss Obesity [RCV000626508] Chr16:29592783..30190568 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p11.2(chr16:29675050-30218384)x1 copy number loss not provided [RCV003312363] Chr16:29675050..30218384 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29580610-30177240)x1 copy number loss See cases [RCV000512604] Chr16:29580610..30177240 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29567296-30177916)x1 copy number loss See cases [RCV000512297] Chr16:29567296..30177916 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29591078-30177807)x3 copy number gain See cases [RCV000512427] Chr16:29591078..30177807 [GRCh37]
Chr16:16p11.2
likely pathogenic
GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3 copy number gain See cases [RCV000512428] Chr16:18238275..30177240 [GRCh37]
Chr16:16p12.3-11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29571474-30243606)x3 copy number gain See cases [RCV000512481] Chr16:29571474..30243606 [GRCh37]
Chr16:16p11.2
likely pathogenic
GRCh37/hg19 16p11.2(chr16:29383808-30190029)x1 copy number loss not provided [RCV000683807] Chr16:29383808..30190029 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29432212-30191848)x1 copy number loss not provided [RCV000683808] Chr16:29432212..30191848 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29351826-30332071)x1 copy number loss not provided [RCV000683806] Chr16:29351826..30332071 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29432212-30339520)x1 copy number loss not provided [RCV000683809] Chr16:29432212..30339520 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29567295-30177916)x1 copy number loss not provided [RCV000683810] Chr16:29567295..30177916 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29567295-30240227)x3 copy number gain not provided [RCV000683811] Chr16:29567295..30240227 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29567295-30344958)x1 copy number loss not provided [RCV000683812] Chr16:29567295..30344958 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29580020-30178406)x1 copy number loss not provided [RCV000683813] Chr16:29580020..30178406 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29580020-30191848)x3 copy number gain not provided [RCV000683814] Chr16:29580020..30191848 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29591078-30243606)x3 copy number gain not provided [RCV000683815] Chr16:29591078..30243606 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29608323-30177240)x3 copy number gain not provided [RCV000683816] Chr16:29608323..30177240 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29652999-30197341)x1 copy number loss not provided [RCV000683817] Chr16:29652999..30197341 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
Single allele duplication Schizophrenia [RCV000754184] Chr16:29480853..30254620 [GRCh38]
Chr16:16p11.2
pathogenic
Single allele duplication Schizophrenia [RCV000754186] Chr16:29614026..30184960 [GRCh38]
Chr16:16p11.2
pathogenic
NC_000016.10:g.(?_29627836)_(30184960_?)del deletion Schizophrenia [RCV000754187] Chr16:29627836..30184960 [GRCh38]
Chr16:16p11.2
pathogenic
Single allele duplication Schizophrenia [RCV000754188] Chr16:29627836..30184960 [GRCh38]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29501094-30198151)x3 copy number gain not provided [RCV000739116] Chr16:29501094..30198151 [GRCh37]
Chr16:16p11.2
likely benign
GRCh37/hg19 16p11.2(chr16:29589153-30198151)x3 copy number gain not provided [RCV000739117] Chr16:29589153..30198151 [GRCh37]
Chr16:16p11.2
uncertain significance
Single allele duplication Autism [RCV000754182] Chr16:29401125..30312960 [GRCh38]
Chr16:16p11.2
pathogenic
NC_000016.10:g.(?_29480853)_(30254620_?)del deletion Autism [RCV000754183] Chr16:29480853..30254620 [GRCh38]
Chr16:16p11.2
pathogenic
Single allele duplication Autism [RCV000754185] Chr16:29553914..30184960 [GRCh38]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29595483-29733872)x1 copy number loss not provided [RCV000739118] Chr16:29595483..29733872 [GRCh37]
Chr16:16p11.2
benign
GRCh37/hg19 16p11.2(chr16:29595483-30198151)x3 copy number gain not provided [RCV000739119] Chr16:29595483..30198151 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29640910-30198319)x3 copy number gain not provided [RCV000739120] Chr16:29640910..30198319 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p11.2(chr16:29644174-30192561)x3 copy number gain not provided [RCV000739121] Chr16:29644174..30192561 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p11.2(chr16:29647342-30192561)x3 copy number gain not provided [RCV000739122] Chr16:29647342..30192561 [GRCh37]
Chr16:16p11.2
uncertain significance
Single allele duplication Autism [RCV000754189] Chr16:29640511..30184960 [GRCh38]
Chr16:16p11.2
pathogenic
16p11.2 recurrent region (BP4-BP5) deletion Proximal 16p11.2 microdeletion syndrome [RCV000034307] Chr16:29638676..30188531 [GRCh38]
Chr16:29649997..30199852 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29656093-30192561)x3 copy number gain not provided [RCV000751641] Chr16:29656093..30192561 [GRCh37]
Chr16:16p11.2
uncertain significance
Single allele deletion Chromosome 16p11.2 duplication syndrome [RCV002280356] Chr16:29663598..30188229 [GRCh38]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29674336-30199351)x1 copy number loss Proximal 16p11.2 microdeletion syndrome [RCV000856637] Chr16:29674336..30199351 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29673203-30199713) copy number loss Proximal 16p11.2 microdeletion syndrome [RCV000767696] Chr16:29673203..30199713 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29674336-30198123)x1 copy number loss Proximal 16p11.2 microdeletion syndrome [RCV000856638] Chr16:29674336..30198123 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29595483-30199713) copy number gain Chromosome 16p11.2 duplication syndrome [RCV000767612] Chr16:29595483..30199713 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29673203-30133233) copy number loss Proximal 16p11.2 microdeletion syndrome [RCV000767613] Chr16:29673203..30133233 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29678569-30199578) copy number gain Chromosome 16p11.2 duplication syndrome [RCV000767615] Chr16:29678569..30199578 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29678569-30199402) copy number loss Proximal 16p11.2 microdeletion syndrome [RCV000767614] Chr16:29678569..30199402 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29595483-30199713) copy number loss Proximal 16p11.2 microdeletion syndrome [RCV000767658] Chr16:29595483..30199713 [GRCh37]
Chr16:16p11.2
pathogenic
Single allele duplication Neurodevelopmental disorder [RCV000787386] Chr16:29526295..30106669 [GRCh37]
Chr16:16p11.2
likely pathogenic
GRCh37/hg19 16p11.2(chr16:29595483-30198151)x1 copy number loss See cases [RCV000790564] Chr16:29595483..30198151 [GRCh37]
Chr16:16p11.2
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787384] Chr16:29656657..30158469 [GRCh37]
Chr16:16p11.2
likely pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787396] Chr16:29656717..30158469 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:28466730-30177916)x1 copy number loss not provided [RCV000848428] Chr16:28466730..30177916 [GRCh37]
Chr16:16p11.2
pathogenic
Single allele deletion Proximal 16p11.2 microdeletion syndrome [RCV001250752] Chr16:29446604..30218886 [GRCh37]
Chr16:16p11.2
risk factor
GRCh37/hg19 16p11.2(chr16:29565626-30221925)x1 copy number loss See cases [RCV001564036] Chr16:29565626..30221925 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:28466730-30191848)x1 copy number loss not provided [RCV000846340] Chr16:28466730..30191848 [GRCh37]
Chr16:16p11.2
pathogenic
NM_014298.6(QPRT):c.328C>T (p.Arg110Cys) single nucleotide variant not specified [RCV004321290] Chr16:29694978 [GRCh38]
Chr16:29706299 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p11.2(chr16:29675050-30218221)x1 copy number loss not provided [RCV001532339] Chr16:29675050..30218221 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29675050-30200008)x1 copy number loss not provided [RCV001532338] Chr16:29675050..30200008 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29495011-30206548) copy number loss Infantile convulsions and choreoathetosis [RCV003236744] Chr16:29495011..30206548 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:28466731-30321320)x1 copy number loss not provided [RCV002472634] Chr16:28466731..30321320 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29432213-30240227)x1 copy number loss not provided [RCV002473521] Chr16:29432213..30240227 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29567296-30240227)x1 copy number loss not provided [RCV002473793] Chr16:29567296..30240227 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29567296-30240227)x3 copy number gain not provided [RCV002473789] Chr16:29567296..30240227 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:28466730-30178406)x1 copy number loss not provided [RCV001006789] Chr16:28466730..30178406 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29432212-30177240)x1 copy number loss not provided [RCV001006791] Chr16:29432212..30177240 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29432212-30178406)x1 copy number loss not provided [RCV001006792] Chr16:29432212..30178406 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29595483-30215621)x1 copy number loss See cases [RCV001194595] Chr16:29595483..30215621 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29615859-30199454)x1 copy number loss not provided [RCV001537891] Chr16:29615859..30199454 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001) copy number gain Microcephaly [RCV001252948] Chr16:5805001..34230001 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29654588-29778708)x3 copy number gain not provided [RCV001258622] Chr16:29654588..29778708 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p11.2(chr16:29592797-30190593)x3 copy number gain See cases [RCV001263060] Chr16:29592797..30190593 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29580020-30177916) copy number loss Proximal 16p11.2 microdeletion syndrome [RCV002280642] Chr16:29580020..30177916 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:28488319-30178406)x1 copy number loss not provided [RCV001258616] Chr16:28488319..30178406 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29628661-30306955) copy number gain Chromosome 16p11.2 duplication syndrome [RCV002280688] Chr16:29628661..30306955 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 copy number gain See cases [RCV001263169] Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2
pathogenic|likely pathogenic
GRCh37/hg19 16p11.2(chr16:29448001-30302100) copy number gain See cases [RCV001263033] Chr16:29448001..30302100 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29383808-30177240)x3 copy number gain not provided [RCV001258617] Chr16:29383808..30177240 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29443322-30320321)x3 copy number gain not provided [RCV001281364] Chr16:29443322..30320321 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29673954-30198600) copy number gain Autism [RCV001291991] Chr16:29673954..30198600 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29567295-30177916) copy number loss Mayer Rokitansky Kuster Hauser syndrome type 1 [RCV002280626] Chr16:29567295..30177916 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29652999-30197341) copy number gain Severe sensorineural hearing impairment [RCV001291951] Chr16:29652999..30197341 [GRCh37]
Chr16:16p11.2
pathogenic
Single allele deletion Proximal 16p11.2 microdeletion syndrome [RCV001391671] Chr16:29675044..30212202 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29545794-30307472)x1 copy number loss See cases [RCV001526481] Chr16:29545794..30307472 [GRCh37]
Chr16:16p11.2
pathogenic
NC_000016.10:g.29640592_30187862del deletion Proximal 16p11.2 microdeletion syndrome [RCV003313807] Chr16:29640592..30187862 [GRCh38]
Chr16:16p11.2
pathogenic|likely pathogenic
GRCh37/hg19 16p11.2(chr16:29580020-30177999) copy number loss Proximal 16p11.2 microdeletion syndrome [RCV002280630] Chr16:29580020..30177999 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29675000-30200335)x3 copy number gain Distal 16p11.2 microdeletion syndrome [RCV001801225] Chr16:29675000..30200335 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29606372-30199622)x1 copy number loss not provided [RCV001795548] Chr16:29606372..30199622 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29590554-30197341)x3 copy number gain 16p11.2 duplication syndrome [RCV001801338] Chr16:29590554..30197341 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29591078-30177240) copy number gain Chromosome 16p11.2 duplication syndrome [RCV002280691] Chr16:29591078..30177240 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29675000-30200058)x3 copy number gain 16p11.2p12.2 microduplication syndrome [RCV001801208] Chr16:29675000..30200058 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29511270-30199844)x1 copy number loss Distal 16p11.2 microdeletion syndrome [RCV001801199] Chr16:29511270..30199844 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29675000-30199844)x1 copy number loss Distal 16p11.2 microdeletion syndrome [RCV001801175] Chr16:29675000..30199844 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29511270-30200335)x1 copy number loss Distal 16p11.2 microdeletion syndrome [RCV001801183] Chr16:29511270..30200335 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29464904-30233799)x3 copy number gain Distal 16p11.2 microdeletion syndrome [RCV001801184] Chr16:29464904..30233799 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29678569-30198121)x1 copy number loss not provided [RCV001825159] Chr16:29678569..30198121 [GRCh37]
Chr16:16p11.2
not provided
GRCh37/hg19 16p11.2(chr16:29591078-30177240)x3 copy number gain Chromosome 16p11.2 duplication syndrome [RCV001825332] Chr16:29591078..30177240 [GRCh37]
Chr16:16p11.2
not provided
GRCh37/hg19 16p11.2(chr16:29567295-30320307)x1 copy number loss Chromosome 16p11.2 duplication syndrome [RCV001825333] Chr16:29567295..30320307 [GRCh37]
Chr16:16p11.2
not provided
GRCh37/hg19 16p11.2(chr16:29601322-30201321)x1 copy number loss See cases [RCV002246172] Chr16:29601322..30201321 [GRCh37]
Chr16:16p11.2
pathogenic
NC_000016.10:g.(29449194_29595531)_(30188533_30335547)del deletion See cases [RCV002227010] Chr16:29595531..30188533 [GRCh38]
Chr16:16p11.2
likely pathogenic|low penetrance
GRCh37/hg19 16p11.2(chr16:29567295-30178406) copy number loss Proximal 16p11.2 microdeletion syndrome [RCV002280664] Chr16:29567295..30178406 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29674300-30200008)x1 copy number loss not provided [RCV002262529] Chr16:29674300..30200008 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29622758-30240227)x3 copy number gain not provided [RCV002472648] Chr16:29622758..30240227 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3 copy number gain not provided [RCV002472599] Chr16:4380767..30445350 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21576803-30177240)x3 copy number gain not provided [RCV002474541] Chr16:21576803..30177240 [GRCh37]
Chr16:16p12.2-11.2
pathogenic
NM_014298.6(QPRT):c.373G>A (p.Ala125Thr) single nucleotide variant not specified [RCV004241986] Chr16:29695023 [GRCh38]
Chr16:29706344 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_014298.6(QPRT):c.125C>T (p.Ser42Leu) single nucleotide variant not specified [RCV004081521] Chr16:29694775 [GRCh38]
Chr16:29706096 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_014298.6(QPRT):c.404C>G (p.Ala135Gly) single nucleotide variant not specified [RCV004175082] Chr16:29695054 [GRCh38]
Chr16:29706375 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_014298.6(QPRT):c.181G>T (p.Asp61Tyr) single nucleotide variant not specified [RCV004153344] Chr16:29694831 [GRCh38]
Chr16:29706152 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p11.2(chr16:29670770-30207956)x3 copy number gain Chromosome 16p11.2 duplication syndrome [RCV002509008] Chr16:29670770..30207956 [GRCh37]
Chr16:16p11.2
not provided
GRCh37/hg19 16p11.2(chr16:29651706-30193525)x1 copy number loss Proximal 16p11.2 microdeletion syndrome [RCV002508992] Chr16:29651706..30193525 [GRCh37]
Chr16:16p11.2
not provided
GRCh38/hg38 16p11.2(chr16:29653297-30181026) copy number loss See cases [RCV003223561] Chr16:29653297..30181026 [GRCh38]
Chr16:16p11.2
pathogenic
NM_014298.6(QPRT):c.887T>G (p.Ile296Ser) single nucleotide variant not specified [RCV004263295] Chr16:29697404 [GRCh38]
Chr16:29708725 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_014298.6(QPRT):c.722C>T (p.Pro241Leu) single nucleotide variant not specified [RCV004253100] Chr16:29697239 [GRCh38]
Chr16:29708560 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_014298.6(QPRT):c.618G>C (p.Gln206His) single nucleotide variant not specified [RCV004283306] Chr16:29697064 [GRCh38]
Chr16:29708385 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_014298.6(QPRT):c.643G>C (p.Gly215Arg) single nucleotide variant not specified [RCV004319967] Chr16:29697089 [GRCh38]
Chr16:29708410 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p11.2(chr16:29656684-30197341)x1 copy number loss Proximal 16p11.2 microdeletion syndrome [RCV003322581] Chr16:29656684..30197341 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29517464-30199839)x1 copy number loss Distal 16p11.2 microdeletion syndrome [RCV003329536] Chr16:29517464..30199839 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29511270-30243006)x1 copy number loss BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV003329517] Chr16:29511270..30243006 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29517464-30200058)x1 copy number loss Distal 16p11.2 microdeletion syndrome [RCV003329542] Chr16:29517464..30200058 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29517464-30200058)x3 copy number gain Distal 16p11.2 microdeletion syndrome [RCV003329525] Chr16:29517464..30200058 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29674568-30199897)x3 copy number gain not provided [RCV003334193] Chr16:29674568..30199897 [GRCh37]
Chr16:16p11.2
pathogenic
NM_014298.6(QPRT):c.406G>C (p.Gly136Arg) single nucleotide variant not specified [RCV004361293] Chr16:29695056 [GRCh38]
Chr16:29706377 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p11.2(chr16:29495010-30212427)x1 copy number loss not provided [RCV003456961] Chr16:29495010..30212427 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29517698-30191848)x1 copy number loss not provided [RCV003483289] Chr16:29517698..30191848 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29432213-30226930)x1 copy number loss not provided [RCV003483288] Chr16:29432213..30226930 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29589674-30226930)x1 copy number loss not provided [RCV003483290] Chr16:29589674..30226930 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29343245-30240227)x1 copy number loss not provided [RCV003483285] Chr16:29343245..30240227 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29383809-29957798)x1 copy number loss not provided [RCV003483286] Chr16:29383809..29957798 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29597823-30321320)x3 copy number gain not provided [RCV003485111] Chr16:29597823..30321320 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29654589-30177240)x3 copy number gain not provided [RCV003485112] Chr16:29654589..30177240 [GRCh37]
Chr16:16p11.2
pathogenic
Single allele duplication not provided [RCV003448664] Chr16:29651786..30199024 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29329272-30178707)x1 copy number loss Proximal 16p11.2 microdeletion syndrome [RCV003883244] Chr16:29329272..30178707 [GRCh38]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29642391-30204353) copy number loss Epilepsy syndrome [RCV003986077] Chr16:29642391..30204353 [GRCh38]
Chr16:16p11.2
pathogenic|low penetrance
GRCh37/hg19 16p11.2(chr16:29427215-30177240)x1 copy number loss not specified [RCV003987165] Chr16:29427215..30177240 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29383808-30191848)x1 copy number loss not specified [RCV003987159] Chr16:29383808..30191848 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29432212-30178406)x1 copy number loss not specified [RCV003987145] Chr16:29432212..30178406 [GRCh37]
Chr16:16p11.2
pathogenic
NM_014298.6(QPRT):c.604T>C (p.Cys202Arg) single nucleotide variant not specified [RCV004440740] Chr16:29697050 [GRCh38]
Chr16:29708371 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p11.2(chr16:29580021-30190029)x3 copy number gain not provided [RCV004442835] Chr16:29580021..30190029 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p11.2(chr16:29428532-30190029)x1 copy number loss See cases [RCV004442849] Chr16:29428532..30190029 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29412503-30190029)x3 copy number gain See cases [RCV004442751] Chr16:29412503..30190029 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p11.2(chr16:29591327-30190029)x1 copy number loss See cases [RCV004442818] Chr16:29591327..30190029 [GRCh37]
Chr16:16p11.2
pathogenic
NM_014298.6(QPRT):c.322C>G (p.Leu108Val) single nucleotide variant not specified [RCV004440737] Chr16:29694972 [GRCh38]
Chr16:29706293 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_014298.6(QPRT):c.772C>A (p.Gln258Lys) single nucleotide variant not specified [RCV004440741] Chr16:29697289 [GRCh38]
Chr16:29708610 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_014298.6(QPRT):c.478C>T (p.His160Tyr) single nucleotide variant not specified [RCV004440738] Chr16:29695128 [GRCh38]
Chr16:29706449 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_014298.6(QPRT):c.320C>T (p.Thr107Met) single nucleotide variant not specified [RCV004440736] Chr16:29694970 [GRCh38]
Chr16:29706291 [GRCh37]
Chr16:16p11.2
likely benign
NM_014298.6(QPRT):c.772C>G (p.Gln258Glu) single nucleotide variant not specified [RCV004440742] Chr16:29697289 [GRCh38]
Chr16:29708610 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p11.2(chr16:29495010-30200397)x1 copy number loss not provided [RCV003885480] Chr16:29495010..30200397 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:29472703-30256894)x1 copy number loss not provided [RCV003885479] Chr16:29472703..30256894 [GRCh37]
Chr16:16p11.2
pathogenic
NM_014298.6(QPRT):c.281C>T (p.Ala94Val) single nucleotide variant not specified [RCV004440735] Chr16:29694931 [GRCh38]
Chr16:29706252 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_014298.6(QPRT):c.481C>T (p.Arg161Cys) single nucleotide variant not specified [RCV004440739] Chr16:29695131 [GRCh38]
Chr16:29706452 [GRCh37]
Chr16:16p11.2
uncertain significance
NC_000016.9:g.(?_28889993)_(31202759_?)del deletion Dilated Cardiomyopathy, Dominant [RCV004582801] Chr16:28889993..31202759 [GRCh37]
Chr16:16p11.2
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1241
Count of miRNA genes:709
Interacting mature miRNAs:833
Transcripts:ENST00000219771, ENST00000395384, ENST00000562473, ENST00000564967
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407241079GWAS890055_Hbody height QTL GWAS890055 (human)1e-08body height (VT:0001253)body height (CMO:0000106)162968738929687390Human

Markers in Region
G24528  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371629,708,830 - 29,708,930UniSTSGRCh37
Build 361629,616,331 - 29,616,431RGDNCBI36
Celera1673,087,060 - 73,087,160RGD
Cytogenetic Map16p11.2UniSTS
HuRef1627,370,133 - 27,370,233UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2429 2788 2245 4942 1723 2344 4 622 1948 464 2268 7281 6454 52 3708 847 1730 1611 170

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001318249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_134536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005255223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC009086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC009133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC023831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC243914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK090801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL563955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG576832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG748194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BJ997057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP314322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX508036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D78177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU794638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ534923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000219771
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1629,679,008 - 29,697,776 (+)Ensembl
Ensembl Acc Id: ENST00000395384   ⟹   ENSP00000378782
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1629,679,180 - 29,698,699 (+)Ensembl
Ensembl Acc Id: ENST00000449759   ⟹   ENSP00000404873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1629,663,279 - 29,697,638 (+)Ensembl
Ensembl Acc Id: ENST00000562473   ⟹   ENSP00000455183
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1629,679,182 - 29,697,524 (+)Ensembl
Ensembl Acc Id: ENST00000564967
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1629,695,797 - 29,697,995 (+)Ensembl
RefSeq Acc Id: NM_001318249   ⟹   NP_001305178
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381629,679,008 - 29,698,699 (+)NCBI
CHM1_11630,906,104 - 30,925,783 (+)NCBI
T2T-CHM13v2.01629,961,049 - 29,980,720 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001318250   ⟹   NP_001305179
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381629,679,180 - 29,698,699 (+)NCBI
CHM1_11630,906,104 - 30,925,783 (+)NCBI
T2T-CHM13v2.01629,961,221 - 29,980,720 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014298   ⟹   NP_055113
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381629,679,180 - 29,698,699 (+)NCBI
GRCh371629,690,334 - 29,709,324 (+)NCBI
Build 361629,597,942 - 29,616,816 (+)NCBI Archive
Celera1673,086,675 - 73,105,568 (-)RGD
HuRef1627,351,724 - 27,370,618 (+)ENTREZGENE
CHM1_11630,906,104 - 30,925,783 (+)NCBI
T2T-CHM13v2.01629,961,221 - 29,980,720 (+)NCBI
Sequence:
RefSeq Acc Id: NR_134536
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381629,679,180 - 29,698,699 (+)NCBI
CHM1_11630,906,104 - 30,925,783 (+)NCBI
T2T-CHM13v2.01629,961,221 - 29,980,720 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005255223   ⟹   XP_005255280
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381629,679,180 - 29,698,699 (+)NCBI
GRCh371629,690,334 - 29,709,324 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054379976   ⟹   XP_054235951
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01629,947,774 - 29,980,720 (+)NCBI
RefSeq Acc Id: XM_054379977   ⟹   XP_054235952
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01629,947,774 - 29,980,720 (+)NCBI
RefSeq Acc Id: NP_055113   ⟸   NM_014298
- Peptide Label: isoform 1
- UniProtKB: Q96G22 (UniProtKB/Swiss-Prot),   Q53XW7 (UniProtKB/Swiss-Prot),   Q15274 (UniProtKB/Swiss-Prot),   Q9BSG6 (UniProtKB/Swiss-Prot),   V9HWJ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005255280   ⟸   XM_005255223
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001305179   ⟸   NM_001318250
- Peptide Label: isoform 3
- UniProtKB: H3BP73 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001305178   ⟸   NM_001318249
- Peptide Label: isoform 2
- UniProtKB: B4DDH4 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000455183   ⟸   ENST00000562473
Ensembl Acc Id: ENSP00000378782   ⟸   ENST00000395384
Ensembl Acc Id: ENSP00000404873   ⟸   ENST00000449759
RefSeq Acc Id: XP_054235951   ⟸   XM_054379976
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054235952   ⟸   XM_054379977
- Peptide Label: isoform X3
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q15274-F1-model_v2 AlphaFold Q15274 1-297 view protein structure

Promoters
RGD ID:6793403
Promoter ID:HG_KWN:23464
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000215011
Position:
Human AssemblyChrPosition (strand)Source
Build 361629,597,766 - 29,598,266 (+)MPROMDB
RGD ID:7231815
Promoter ID:EPDNEW_H21654
Type:initiation region
Name:QPRT_1
Description:quinolinate phosphoribosyltransferase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21648  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381629,679,180 - 29,679,240EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9755 AgrOrtholog
COSMIC QPRT COSMIC
Ensembl Genes ENSG00000103485 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000395384 ENTREZGENE
  ENST00000395384.9 UniProtKB/Swiss-Prot
  ENST00000449759.2 UniProtKB/Swiss-Prot
  ENST00000562473 ENTREZGENE
  ENST00000562473.1 UniProtKB/TrEMBL
Gene3D-CATH 3.20.20.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.1170.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000103485 GTEx
HGNC ID HGNC:9755 ENTREZGENE
Human Proteome Map QPRT Human Proteome Map
InterPro Aldolase_TIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NadC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NadC/ModD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nicotinate_pribotase-like_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Quinolinate_PRibosylTase_N_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Quinolinate_PRibosylTrfase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Quinolinate_PRibosylTrfase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23475 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 23475 ENTREZGENE
OMIM 606248 OMIM
PANTHER NICOTINATE-NUCLEOTIDE PYROPHOSPHORYLASE [CARBOXYLATING] UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR32179 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam QRPTase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  QRPTase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34096 PharmGKB
PIRSF NadC_ModD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Nicotinate/Quinolinate PRTase N-terminal domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF51690 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4DDH4 ENTREZGENE, UniProtKB/TrEMBL
  H3BP73 ENTREZGENE, UniProtKB/TrEMBL
  NADC_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q53XW7 ENTREZGENE
  Q96G22 ENTREZGENE
  Q9BSG6 ENTREZGENE
  V9HWJ5 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary Q53XW7 UniProtKB/Swiss-Prot
  Q96G22 UniProtKB/Swiss-Prot
  Q9BSG6 UniProtKB/Swiss-Prot