C16orf92 (chromosome 16 open reading frame 92) - Rat Genome Database

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Gene: C16orf92 (chromosome 16 open reading frame 92) Homo sapiens
Analyze
Symbol: C16orf92
Name: chromosome 16 open reading frame 92
RGD ID: 2306470
HGNC Page HGNC:26346
Description: Predicted to be involved in fusion of sperm to egg plasma membrane involved in single fertilization. Predicted to be located in plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FIMP; FLJ25404; hypothetical protein LOC146378; MGC125422; uncharacterized protein C16orf92
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
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
GRCh381630,023,198 - 30,027,736 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1630,023,198 - 30,027,736 (+)EnsemblGRCh38hg38GRCh38
GRCh371630,034,519 - 30,039,057 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361629,942,156 - 29,943,524 (+)NCBINCBI36Build 36hg18NCBI36
Celera1672,759,701 - 72,761,069 (-)NCBICelera
Cytogenetic Map16p11.2NCBI
HuRef1627,695,974 - 27,697,342 (+)NCBIHuRef
CHM1_11631,250,460 - 31,251,828 (+)NCBICHM1_1
T2T-CHM13v2.01630,305,831 - 30,310,369 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

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

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:21873635   PMID:25056061   PMID:32295885   PMID:32296183   PMID:33961781  


Genomics

Comparative Map Data
C16orf92
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381630,023,198 - 30,027,736 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1630,023,198 - 30,027,736 (+)EnsemblGRCh38hg38GRCh38
GRCh371630,034,519 - 30,039,057 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361629,942,156 - 29,943,524 (+)NCBINCBI36Build 36hg18NCBI36
Celera1672,759,701 - 72,761,069 (-)NCBICelera
Cytogenetic Map16p11.2NCBI
HuRef1627,695,974 - 27,697,342 (+)NCBIHuRef
CHM1_11631,250,460 - 31,251,828 (+)NCBICHM1_1
T2T-CHM13v2.01630,305,831 - 30,310,369 (+)NCBIT2T-CHM13v2.0
4930451I11Rik
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397126,429,640 - 126,430,712 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7126,429,640 - 126,430,811 (-)EnsemblGRCm39 Ensembl
GRCm387126,830,468 - 126,831,540 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7126,830,468 - 126,831,639 (-)EnsemblGRCm38mm10GRCm38
MGSCv377133,973,988 - 133,975,010 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367126,621,623 - 126,622,620 (-)NCBIMGSCv36mm8
Celera7126,678,674 - 126,679,696 (-)NCBICelera
Cytogenetic Map7F3NCBI
cM Map769.25NCBI
C1h16orf92
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81190,870,546 - 190,871,557 (-)NCBIGRCr8
mRatBN7.21181,434,524 - 181,441,000 (-)NCBImRatBN7.2mRatBN7.2
UTH_Rnor_SHR_Utx1189,791,270 - 189,792,255 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01196,977,345 - 196,978,330 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01189,644,735 - 189,645,720 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01198,260,711 - 198,268,056 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1198,266,108 - 198,267,093 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01205,246,276 - 205,248,213 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41186,008,748 - 186,009,733 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1179,095,433 - 179,096,418 (-)NCBICelera
Cytogenetic Map1q36NCBI
CUNH16orf92
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554936,940,226 - 6,941,290 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554936,940,226 - 6,941,290 (-)NCBIChiLan1.0ChiLan1.0
C18H16orf92
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21830,772,968 - 30,778,606 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11635,447,279 - 35,452,917 (-)NCBINHGRI_mPanPan1
PanPan1.11630,398,728 - 30,403,996 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1630,398,743 - 30,399,615 (+)Ensemblpanpan1.1panPan2
C6H16orf92
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1618,051,019 - 18,053,729 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl618,052,621 - 18,054,126 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha619,628,483 - 19,634,115 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0618,185,649 - 18,191,283 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl618,186,551 - 18,187,507 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1617,984,851 - 17,990,460 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0617,900,228 - 17,905,828 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0618,215,832 - 18,221,450 (+)NCBIUU_Cfam_GSD_1.0
CUNH16orf92
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344124,353,229 - 124,354,119 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493650112,451,173 - 12,451,964 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493650112,450,902 - 12,452,169 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
C3H16orf92
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1318,222,923 - 18,223,528 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
CUNH16orf92
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1526,639,049 - 26,640,862 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl526,639,548 - 26,640,418 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660682,895,414 - 2,897,177 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
CUNH16orf92
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462478213,212,195 - 13,214,166 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in C16orf92
13 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(chr16:29837647-30179388)x3 copy number gain Abnormal facial shape [RCV000051229]|See cases [RCV000051229] Chr16:29837647..30179388 [GRCh38]
Chr16:29848968..30190709 [GRCh37]
Chr16:29756469..30098210 [NCBI36]
Chr16:16p11.2		 pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29227272-30321260)x3 copy number gain See cases [RCV000051168] Chr16:29227272..30321260 [GRCh38]
Chr16:29238593..30332581 [GRCh37]
Chr16:29146094..30240082 [NCBI36]
Chr16:16p11.2		 pathogenic|uncertain significance
GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3 copy number gain See cases [RCV000052401] Chr16:23047969..30632245 [GRCh38]
Chr16:23059290..30643566 [GRCh37]
Chr16:22966791..30551067 [NCBI36]
Chr16:16p12.2-11.2		 pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28456967-30295107)x1 copy number loss See cases [RCV000052520] Chr16:28456967..30295107 [GRCh38]
Chr16:28468288..30306428 [GRCh37]
Chr16:28375789..30213929 [NCBI36]
Chr16:16p12.1-11.2		 pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x1 copy number loss See cases [RCV000054252] Chr16:28492482..30179247 [GRCh38]
Chr16:28503803..30190568 [GRCh37]
Chr16:28411304..30098069 [NCBI36]
Chr16:16p12.1-11.2		 pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:28531783-30183432)x1 copy number loss See cases [RCV000054253] Chr16:28531783..30183432 [GRCh38]
Chr16:28543104..30194753 [GRCh37]
Chr16:28450605..30102254 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29441012-30183432)x3 copy number gain See cases [RCV000054255] Chr16:29441012..30183432 [GRCh38]
Chr16:29452333..30194753 [GRCh37]
Chr16:29359834..30102254 [NCBI36]
Chr16:16p11.2		 pathogenic|uncertain significance
GRCh38/hg38 16p12.1-11.2(chr16:28366111-30183432)x3 copy number gain See cases [RCV000054346] Chr16:28366111..30183432 [GRCh38]
Chr16:28377432..30194753 [GRCh37]
Chr16:28284933..30102254 [NCBI36]
Chr16:16p12.1-11.2		 pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29086504-30333716)x3 copy number gain See cases [RCV000054347] Chr16:29086504..30333716 [GRCh38]
Chr16:29097825..30345037 [GRCh37]
Chr16:29005326..30252538 [NCBI36]
Chr16:16p11.2		 pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29441012-30183432)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(chr16:29662433-30179388)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(chr16:29662635-30186020)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(chr16:29662635-30187279)x3 copy number gain See cases [RCV000054302] Chr16:29662635..30187279 [GRCh38]
Chr16:29673956..30198600 [GRCh37]
Chr16:29581457..30106101 [NCBI36]
Chr16:16p11.2		 pathogenic|likely pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29662635-30187279)x1 copy number loss See cases [RCV000054303] Chr16:29662635..30187279 [GRCh38]
Chr16:29673956..30198600 [GRCh37]
Chr16:29581457..30106101 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29662635-30108438)x1 copy number loss See cases [RCV000054305] Chr16:29662635..30108438 [GRCh38]
Chr16:29673956..30119759 [GRCh37]
Chr16:29581457..30027260 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29663527-30183432)x1 copy number loss See cases [RCV000054307] Chr16:29663527..30183432 [GRCh38]
Chr16:29674848..30194753 [GRCh37]
Chr16:29582349..30102254 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29808232-30162533)x1 copy number loss See cases [RCV000054309] Chr16:29808232..30162533 [GRCh38]
Chr16:29819553..30173854 [GRCh37]
Chr16:29727054..30081355 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29829840-30183432)x1 copy number loss See cases [RCV000054312] Chr16:29829840..30183432 [GRCh38]
Chr16:29841161..30194753 [GRCh37]
Chr16:29748662..30102254 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29844610-30187279)x1 copy number loss See cases [RCV000054314] Chr16:29844610..30187279 [GRCh38]
Chr16:29855931..30198600 [GRCh37]
Chr16:29763432..30106101 [NCBI36]
Chr16:16p11.2		 pathogenic
NM_001109659.1(C16orf92):c.141C>T (p.Phe47=) single nucleotide variant Malignant melanoma [RCV000071087] Chr16:30023803 [GRCh38]
Chr16:30035124 [GRCh37]
Chr16:29942625 [NCBI36]
Chr16:16p11.2		 not provided
NM_001109659.1(C16orf92):c.114G>A (p.Pro38=) single nucleotide variant Lung cancer [RCV000099882] Chr16:30023776 [GRCh38]
Chr16:30035097 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:29673954-30198600) copy number gain Autism [RCV001291991] Chr16:29673954..30198600 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29652999-30198600) copy number loss Abnormal fetal cardiovascular morphology [RCV001291971] Chr16:29652999..30198600 [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
GRCh38/hg38 16p11.2(chr16:29662633-30187279)x3 copy number gain See cases [RCV000054299] Chr16:29662633..30187279 [GRCh38]
Chr16:29673954..30198600 [GRCh37]
Chr16:29581455..30106101 [NCBI36]
Chr16:16p11.2		 likely pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29645363-30185969)x1 copy number loss See cases [RCV000134450] Chr16:29645363..30185969 [GRCh38]
Chr16:29656684..30197290 [GRCh37]
Chr16:29564185..30104791 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29662633-30179188)x1 copy number loss See cases [RCV000134452] Chr16:29662633..30179188 [GRCh38]
Chr16:29673954..30190509 [GRCh37]
Chr16:29581455..30098010 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29634999-30185969)x1 copy number loss See cases [RCV000134460] Chr16:29634999..30185969 [GRCh38]
Chr16:29646320..30197290 [GRCh37]
Chr16:29553821..30104791 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29466738-30179247)x1 copy number loss See cases [RCV000133991] Chr16:29466738..30179247 [GRCh38]
Chr16:29478059..30190568 [GRCh37]
Chr16:29385560..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3 copy number gain See cases [RCV000135339] Chr16:29909613..31438697 [GRCh38]
Chr16:29920934..31450018 [GRCh37]
Chr16:29828435..31357519 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29609368-30179188)x3 copy number gain See cases [RCV000135284] Chr16:29609368..30179188 [GRCh38]
Chr16:29620689..30190509 [GRCh37]
Chr16:29528190..30098010 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x3 copy number gain See cases [RCV000135765] Chr16:28492482..30179247 [GRCh38]
Chr16:28503803..30190568 [GRCh37]
Chr16:28411304..30098069 [NCBI36]
Chr16:16p12.1-11.2		 pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29662633-30321260)x1 copy number loss See cases [RCV000135768] Chr16:29662633..30321260 [GRCh38]
Chr16:29673954..30332581 [GRCh37]
Chr16:29581455..30240082 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29581462-30321260)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(chr16:29581462-30691912)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(chr16:29662633-30186020)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(chr16:29581462-30185969)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(chr16:29555974-30308986)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 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(chr16:29892937-30433124)x3 copy number gain See cases [RCV000143385] Chr16:29892937..30433124 [GRCh38]
Chr16:29904258..30444445 [GRCh37]
Chr16:29811759..30351946 [NCBI36]
Chr16:16p11.2		 pathogenic|likely benign
GRCh38/hg38 16p11.2(chr16:29555974-30309999)x3 copy number gain See cases [RCV000143386] Chr16:29555974..30309999 [GRCh38]
Chr16:29567295..30321320 [GRCh37]
Chr16:29474796..30228821 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29598613-30165919)x3 copy number gain See cases [RCV000143305] Chr16:29598613..30165919 [GRCh38]
Chr16:29609934..30177240 [GRCh37]
Chr16:29517435..30084741 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29420891-30166595)x1 copy number loss See cases [RCV000143228] Chr16:29420891..30166595 [GRCh38]
Chr16:29432212..30177916 [GRCh37]
Chr16:29339713..30085417 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30166486)x1 copy number loss See cases [RCV000143670] Chr16:29555974..30166486 [GRCh38]
Chr16:29567295..30177807 [GRCh37]
Chr16:29474796..30085308 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29627319-30165919)x3 copy number gain See cases [RCV000143581] Chr16:29627319..30165919 [GRCh38]
Chr16:29638640..30177240 [GRCh37]
Chr16:29546141..30084741 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30166678)x1 copy number loss See cases [RCV000143478] Chr16:29555974..30166678 [GRCh38]
Chr16:29567295..30177999 [GRCh37]
Chr16:29474796..30085500 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30167085)x1 copy number loss See cases [RCV000143457] Chr16:29555974..30167085 [GRCh38]
Chr16:29567295..30178406 [GRCh37]
Chr16:29474796..30085907 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29581462-30321260)x1 copy number loss See cases [RCV000148288] Chr16:29581462..30321260 [GRCh38]
Chr16:29592783..30332581 [GRCh37]
Chr16:29500284..30240082 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29662633-30179247)x1 copy number loss See cases [RCV000148134] Chr16:29662633..30179247 [GRCh38]
Chr16:29673954..30190568 [GRCh37]
Chr16:29581455..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29662633-30179247)x3 copy number gain See cases [RCV000148254]|See cases [RCV000509065] Chr16:29662633..30179247 [GRCh38]
Chr16:29673954..30190568 [GRCh37]
Chr16:29581455..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x1 copy number loss See cases [RCV000148148] Chr16:28492482..30179247 [GRCh38]
Chr16:28503803..30190568 [GRCh37]
Chr16:28411304..30098069 [NCBI36]
Chr16:16p12.1-11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29662633-30187279)x1 copy number loss See cases [RCV000148157] Chr16:29662633..30187279 [GRCh38]
Chr16:29673954..30198600 [GRCh37]
Chr16:29581455..30106101 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29170820-30179247)x3 copy number gain See cases [RCV000148119] Chr16:29170820..30179247 [GRCh38]
Chr16:29182141..30190568 [GRCh37]
Chr16:29089642..30098069 [NCBI36]
Chr16:16p11.2		 uncertain significance
GRCh38/hg38 16p11.2(chr16:29662633-30321260)x3 copy number gain See cases [RCV000148123] Chr16:29662633..30321260 [GRCh38]
Chr16:29673954..30332581 [GRCh37]
Chr16:29581455..30240082 [NCBI36]
Chr16:16p11.2		 uncertain significance
GRCh38/hg38 16p11.2(chr16:29227272-30179247)x3 copy number gain See cases [RCV000148125] Chr16:29227272..30179247 [GRCh38]
Chr16:29238593..30190568 [GRCh37]
Chr16:29146094..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29227272-30179247)x1 copy number loss See cases [RCV000148095] Chr16:29227272..30179247 [GRCh38]
Chr16:29238593..30190568 [GRCh37]
Chr16:29146094..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29581462-30179247)x3 copy number gain See cases [RCV000148096] Chr16:29581462..30179247 [GRCh38]
Chr16:29592783..30190568 [GRCh37]
Chr16:29500284..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29581462-30179247)x1 copy number loss See cases [RCV000148097] Chr16:29581462..30179247 [GRCh38]
Chr16:29592783..30190568 [GRCh37]
Chr16:29500284..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29060171-30197341)x3 copy number gain See cases [RCV000240123] Chr16:29060171..30197341 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29060171-30195607)x3 copy number gain See cases [RCV000239797] Chr16:29060171..30195607 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29841933-30381027)x3 copy number gain Breast ductal adenocarcinoma [RCV000207131] Chr16:29841933..30381027 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
NC_000016.10:g.(?_29506378)_(30180574_?)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
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
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(chr16:29591078-30177916)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(chr16:29580020-30177240)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 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(chr16:29567295-30177807)x1 copy number loss See cases [RCV000446546] Chr16:29567295..30177807 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29567295-30177916)x1 copy number loss See cases [RCV000446174] Chr16:29567295..30177916 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29421694-30344958)x3 copy number gain See cases [RCV000446565] Chr16:29421694..30344958 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29597822-30240227)x3 copy number gain See cases [RCV000446189] Chr16:29597822..30240227 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29609934-30177916)x3 copy number gain See cases [RCV000446581] Chr16:29609934..30177916 [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
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(chr16:29060171-30197290)x3 copy number gain See cases [RCV000448328] Chr16:29060171..30197290 [GRCh37]
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 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(chr16:29567295-30177240)x1 copy number loss See cases [RCV000511917] Chr16:29567295..30177240 [GRCh37]
Chr16:16p11.2		 pathogenic
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)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p11.2(chr16:29827174-30198041) copy number gain Chromosome 16p11.2 duplication syndrome [RCV000767618] Chr16:29827174..30198041 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 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(chr16:29675050-30218384)x1 copy number loss not provided [RCV003312363] Chr16:29675050..30218384 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_031478.6(TLCD3B):c.332C>T (p.Ala111Val) single nucleotide variant not specified [RCV004300056] Chr16:30026721 [GRCh38]
Chr16:30038042 [GRCh37]
Chr16:16p11.2		 likely benign
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(chr16:29656684-30197341) copy number gain Abnormality of the eye [RCV000626509] Chr16:29656684..30197341 [GRCh37]
Chr16:16p11.2		 likely 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(chr16:29592783-30190568) copy number loss Obesity [RCV000626508] Chr16:29592783..30190568 [GRCh37]
Chr16:16p11.2		 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(chr16:88165-90274695)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
GRCh37/hg19 16p11.2(chr16:29675050-30218221)x1 copy number loss not provided [RCV001532339] Chr16:29675050..30218221 [GRCh37]
Chr16:16p11.2		 pathogenic
Single allele duplication Schizophrenia [RCV000754184] Chr16:29480853..30254620 [GRCh38]
Chr16:16p11.2		 pathogenic
Single allele duplication Schizophrenia [RCV000754186] Chr16:29614026..30184960 [GRCh38]
Chr16:16p11.2		 pathogenic
NC_000016.10:g.(?_29627836)_(30184960_?)del deletion Schizophrenia [RCV000754187] Chr16:29627836..30184960 [GRCh38]
Chr16:16p11.2		 pathogenic
Single allele duplication Schizophrenia [RCV000754188] Chr16:29627836..30184960 [GRCh38]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29501094-30198151)x3 copy number gain not provided [RCV000739116] Chr16:29501094..30198151 [GRCh37]
Chr16:16p11.2		 likely benign
GRCh37/hg19 16p11.2(chr16:29589153-30198151)x3 copy number gain not provided [RCV000739117] Chr16:29589153..30198151 [GRCh37]
Chr16:16p11.2		 uncertain significance
Single allele duplication Autism [RCV000754182] Chr16:29401125..30312960 [GRCh38]
Chr16:16p11.2		 pathogenic
NC_000016.10:g.(?_29480853)_(30254620_?)del deletion Autism [RCV000754183] Chr16:29480853..30254620 [GRCh38]
Chr16:16p11.2		 pathogenic
Single allele duplication Autism [RCV000754185] Chr16:29553914..30184960 [GRCh38]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29595483-30198151)x3 copy number gain not provided [RCV000739119] Chr16:29595483..30198151 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29640910-30198319)x3 copy number gain not provided [RCV000739120] Chr16:29640910..30198319 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:29644174-30192561)x3 copy number gain not provided [RCV000739121] Chr16:29644174..30192561 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:29647342-30192561)x3 copy number gain not provided [RCV000739122] Chr16:29647342..30192561 [GRCh37]
Chr16:16p11.2		 uncertain significance
Single allele duplication Autism [RCV000754189] Chr16:29640511..30184960 [GRCh38]
Chr16:16p11.2		 pathogenic
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(chr16:29678569-30199578) copy number gain Chromosome 16p11.2 duplication syndrome [RCV000767615] Chr16:29678569..30199578 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29042050-30199025) copy number loss Proximal 16p11.2 microdeletion syndrome [RCV000767610] Chr16:29042050..30199025 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29532264-30271237) copy number gain Chromosome 16p11.2 duplication syndrome [RCV000767611] Chr16:29532264..30271237 [GRCh37]
Chr16:16p11.2		 pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787396] Chr16:29656717..30158469 [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(chr16:29678569-30199402) copy number loss Proximal 16p11.2 microdeletion syndrome [RCV000767614] Chr16:29678569..30199402 [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(chr16:29595483-30199713) 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
Single allele deletion Neurodevelopmental disorder [RCV000787384] Chr16:29656657..30158469 [GRCh37]
Chr16:16p11.2		 likely pathogenic
GRCh37/hg19 16p11.2(chr16:29595483-30198151)x1 copy number loss See cases [RCV000790564] Chr16:29595483..30198151 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:28466730-30177916)x1 copy number loss not provided [RCV000848428] Chr16:28466730..30177916 [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(chr16:29595483-30215621)x1 copy number loss See cases [RCV001194595] Chr16:29595483..30215621 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29565626-30221925)x1 copy number loss See cases [RCV001564036] Chr16:29565626..30221925 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:28466730-30191848)x1 copy number loss not provided [RCV000846340] Chr16:28466730..30191848 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29432212-30177240)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(chr16:29495011-30206548) 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(chr16:29622758-30240227)x3 copy number gain not provided [RCV002472648] Chr16:29622758..30240227 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_031478.6(TLCD3B):c.234del (p.Gln79fs) deletion Cone-rod dystrophy 22 [RCV001678584] Chr16:30026819 [GRCh38]
Chr16:30038140 [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 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(chr16:29615859-30199454)x1 copy number loss not provided [RCV001537891] Chr16:29615859..30199454 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29383808-30177240)x3 copy number gain not provided [RCV001258617] Chr16:29383808..30177240 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 copy number gain See cases [RCV001263169] Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic|likely pathogenic
NM_031478.6(TLCD3B):c.772C>T (p.Arg258Cys) single nucleotide variant not specified [RCV004677050] Chr16:30025236 [GRCh38]
Chr16:30036557 [GRCh37]
Chr16:16p11.2		 uncertain significance
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(chr16:29448001-30302100) copy number gain See cases [RCV001263033] Chr16:29448001..30302100 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29592797-30190593)x3 copy number gain See cases [RCV001263060] Chr16:29592797..30190593 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29580020-30177916) copy number loss Proximal 16p11.2 microdeletion syndrome [RCV002280642] Chr16:29580020..30177916 [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
NC_000016.9:g.(?_29802081)_(30199917_?)dup duplication Episodic kinesigenic dyskinesia [RCV003120586]|HNSHA due to aldolase A deficiency [RCV001373865]|Severe combined immunodeficiency due to CORO1A deficiency [RCV001865862] Chr16:29802081..30199917 [GRCh37]
Chr16:16p11.2		 uncertain significance
NC_000016.9:g.(?_29802081)_(30199917_?)del deletion Episodic kinesigenic dyskinesia [RCV003120582]|HNSHA due to aldolase A deficiency [RCV001865861]|Severe combined immunodeficiency due to CORO1A deficiency [RCV001388031]|not provided [RCV001362947] Chr16:29802081..30199917 [GRCh37]
Chr16:16p11.2		 pathogenic|uncertain significance|no classifications from unflagged records
NC_000016.9:g.(?_29802081)_(30200285_?)dup duplication Episodic kinesigenic dyskinesia [RCV001325791] Chr16:29802081..30200285 [GRCh37]
Chr16:16p11.2		 uncertain significance
Single allele deletion Proximal 16p11.2 microdeletion syndrome [RCV001391671] Chr16:29675044..30212202 [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(chr16:29545794-30307472)x1 copy number loss See cases [RCV001526481] Chr16:29545794..30307472 [GRCh37]
Chr16:16p11.2		 pathogenic
NC_000016.9:g.(?_29802081)_(30200285_?)del deletion Episodic kinesigenic dyskinesia [RCV001388947] Chr16:29802081..30200285 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29432212-30177807)x1 copy number loss See cases [RCV002285052] Chr16:29432212..30177807 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_001109659.2(C16orf92):c.128G>A (p.Arg43Lys) single nucleotide variant Neutropenia [RCV002227880] Chr16:30023790 [GRCh38]
Chr16:30035111 [GRCh37]
Chr16:16p11.2		 likely benign
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(chr16:29580020-30177999) copy number loss Proximal 16p11.2 microdeletion syndrome [RCV002280630] Chr16:29580020..30177999 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29974415-30596982)x1 copy number loss Distal 16p11.2 microdeletion syndrome [RCV001801174] Chr16:29974415..30596982 [GRCh37]
Chr16:16p11.2		 likely pathogenic
GRCh37/hg19 16p11.2(chr16:29675000-30200058)x3 copy number gain 16p11.2p12.2 microduplication syndrome [RCV001801208] Chr16:29675000..30200058 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29511270-30200335)x1 copy number loss Distal 16p11.2 microdeletion syndrome [RCV001801183] Chr16:29511270..30200335 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29808153-30750270)x3 copy number gain Chromosome 16p11.2 duplication syndrome [RCV001801218] Chr16:29808153..30750270 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29675000-30200335)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(chr16:29628661-30306955) copy number gain Chromosome 16p11.2 duplication syndrome [RCV002280688] Chr16:29628661..30306955 [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(chr16:29675000-30199844)x1 copy number loss Distal 16p11.2 microdeletion syndrome [RCV001801175] Chr16:29675000..30199844 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29464904-30233799)x3 copy number gain Distal 16p11.2 microdeletion syndrome [RCV001801184] Chr16:29464904..30233799 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29567295-30178406) copy number loss Proximal 16p11.2 microdeletion syndrome [RCV002280664] Chr16:29567295..30178406 [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(chr16:29590554-30197341)x3 copy number gain 16p11.2 duplication syndrome [RCV001801338] Chr16:29590554..30197341 [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(chr16:29567295-30320307)x1 copy number loss Chromosome 16p11.2 duplication syndrome [RCV001825333] Chr16:29567295..30320307 [GRCh37]
Chr16:16p11.2		 not provided
GRCh37/hg19 16p11.2(chr16:29591078-30177240)x3 copy number gain Chromosome 16p11.2 duplication syndrome [RCV001825332] Chr16:29591078..30177240 [GRCh37]
Chr16:16p11.2		 not provided
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(chr16:29601322-30201321)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(chr16:29567296-30177807)x1 copy number loss Dysmorphic features [RCV002282737] Chr16:29567296..30177807 [GRCh37]
Chr16:16p11.2		 uncertain significance
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(chr16:29567296-30240227)x1 copy number loss not provided [RCV002473793] Chr16:29567296..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
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(chr16:29432213-30240227)x1 copy number loss not provided [RCV002473521] Chr16:29432213..30240227 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_001109659.2(C16orf92):c.206T>A (p.Ile69Asn) single nucleotide variant not specified [RCV004101000] Chr16:30023868 [GRCh38]
Chr16:30035189 [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
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(chr16:29517464-30200058)x3 copy number gain Distal 16p11.2 microdeletion syndrome [RCV003329525] Chr16:29517464..30200058 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29517464-30199839)x1 copy number loss Distal 16p11.2 microdeletion syndrome [RCV003329536] Chr16:29517464..30199839 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29517464-30200058)x1 copy number loss Distal 16p11.2 microdeletion syndrome [RCV003329542] Chr16:29517464..30200058 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29511270-30243006)x1 copy number loss BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV003329517] Chr16:29511270..30243006 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_031478.6(TLCD3B):c.548A>G (p.Gln183Arg) single nucleotide variant not specified [RCV004348229] Chr16:30025460 [GRCh38]
Chr16:30036781 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_031478.6(TLCD3B):c.344C>T (p.Pro115Leu) single nucleotide variant not specified [RCV004343548] Chr16:30026709 [GRCh38]
Chr16:30038030 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:29674568-30199897)x3 copy number gain not provided [RCV003334193] Chr16:29674568..30199897 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_031478.6(TLCD3B):c.325G>A (p.Asp109Asn) single nucleotide variant not specified [RCV004342291] Chr16:30026728 [GRCh38]
Chr16:30038049 [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(chr16:29343245-30240227)x1 copy number loss not provided [RCV003483285] Chr16:29343245..30240227 [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(chr16:29597823-30321320)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(chr16:29383808-30191848)x1 copy number loss not specified [RCV003987159] Chr16:29383808..30191848 [GRCh37]
Chr16:16p11.2		 pathogenic
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(chr16:29432212-30178406)x1 copy number loss not specified [RCV003987145] Chr16:29432212..30178406 [GRCh37]
Chr16:16p11.2		 pathogenic
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(chr16:29580021-30190029)x3 copy number gain not provided [RCV004442835] Chr16:29580021..30190029 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:29472703-30256894)x1 copy number loss not provided [RCV003885479] Chr16:29472703..30256894 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29495010-30200397)x1 copy number loss not provided [RCV003885480] Chr16:29495010..30200397 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29591327-30190029)x1 copy number loss See cases [RCV004442818] Chr16:29591327..30190029 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_031478.6(TLCD3B):c.328G>A (p.Gly110Arg) single nucleotide variant not specified [RCV004470081] Chr16:30026725 [GRCh38]
Chr16:30038046 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_031478.6(TLCD3B):c.797C>T (p.Pro266Leu) single nucleotide variant not specified [RCV004470086] Chr16:30025211 [GRCh38]
Chr16:30036532 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_031478.6(TLCD3B):c.341C>T (p.Ala114Val) single nucleotide variant not specified [RCV004470082] Chr16:30026712 [GRCh38]
Chr16:30038033 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_031478.6(TLCD3B):c.353C>T (p.Thr118Met) single nucleotide variant not specified [RCV004470083] Chr16:30026700 [GRCh38]
Chr16:30038021 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_031478.6(TLCD3B):c.787C>T (p.Arg263Cys) single nucleotide variant not specified [RCV004470085] Chr16:30025221 [GRCh38]
Chr16:30036542 [GRCh37]
Chr16:16p11.2		 uncertain significance
NC_000016.9:g.(?_29824376)_(30081533_?)del deletion Episodic kinesigenic dyskinesia [RCV004582713] Chr16:29824376..30081533 [GRCh37]
Chr16:16p11.2		 pathogenic
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:773
Count of miRNA genes:461
Interacting mature miRNAs:511
Transcripts:ENST00000300575, ENST00000561910, ENST00000567847, ENST00000569198
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406892201GWAS541177_Htonsillectomy risk measurement QTL GWAS541177 (human)0.000004tonsillectomy risk measurement163002448530024486Human
407231358GWAS880334_Hbone density QTL GWAS880334 (human)3e-215bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)163002448530024486Human

Markers in Region
RH78407  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371630,035,785 - 30,035,964UniSTSGRCh37
Build 361629,943,286 - 29,943,465RGDNCBI36
Celera1672,759,760 - 72,759,939RGD
Cytogenetic Map16p11.2UniSTS
HuRef1627,697,104 - 27,697,283UniSTS
UniSTS:487197  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371630,034,655 - 30,035,621UniSTSGRCh37
Celera1672,760,103 - 72,761,069UniSTS
HuRef1627,695,974 - 27,696,940UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
208 524 740 367 3068 544 488 103 383 62 653 1522 1184 19 2577 156 897 358 45

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001109659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001109660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008489059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008489060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008489061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008489062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC093512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC243947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK058133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW196946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC127955 (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

Ensembl Acc Id: ENST00000300575   ⟹   ENSP00000300575
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,023,334 - 30,024,702 (+)Ensembl
Ensembl Acc Id: ENST00000561910   ⟹   ENSP00000456798
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,023,334 - 30,024,300 (+)Ensembl
Ensembl Acc Id: ENST00000567847   ⟹   ENSP00000458048
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,023,753 - 30,027,702 (+)Ensembl
Ensembl Acc Id: ENST00000569198   ⟹   ENSP00000454560
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,023,726 - 30,027,736 (+)Ensembl
Ensembl Acc Id: ENST00000681219   ⟹   ENSP00000506393
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,023,198 - 30,024,704 (+)Ensembl
RefSeq Acc Id: NM_001109659   ⟹   NP_001103129
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381630,023,198 - 30,024,704 (+)NCBI
GRCh371630,034,655 - 30,036,023 (+)RGD
Build 361629,942,156 - 29,943,524 (+)NCBI Archive
Celera1672,759,701 - 72,761,069 (-)RGD
HuRef1627,695,974 - 27,697,342 (+)ENTREZGENE
CHM1_11631,250,460 - 31,251,828 (+)NCBI
T2T-CHM13v2.01630,305,831 - 30,307,337 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001109660   ⟹   NP_001103130
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381630,023,198 - 30,024,704 (+)NCBI
GRCh371630,034,655 - 30,036,023 (+)RGD
Build 361629,942,156 - 29,943,524 (+)NCBI Archive
Celera1672,759,701 - 72,761,069 (-)RGD
HuRef1627,695,974 - 27,697,342 (+)ENTREZGENE
CHM1_11631,250,460 - 31,251,828 (+)NCBI
T2T-CHM13v2.01630,305,831 - 30,307,337 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353379   ⟹   NP_001340308
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381630,023,198 - 30,027,736 (+)NCBI
T2T-CHM13v2.01630,305,831 - 30,310,369 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024450162   ⟹   XP_024305930
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381630,023,198 - 30,027,698 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054379665   ⟹   XP_054235640
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01630,305,831 - 30,310,331 (+)NCBI
RefSeq Acc Id: XR_002957776
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381630,023,198 - 30,027,186 (+)NCBI
Sequence:
RefSeq Acc Id: XR_002957777
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381630,023,198 - 30,027,186 (+)NCBI
Sequence:
RefSeq Acc Id: XR_002957778
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381630,023,198 - 30,027,186 (+)NCBI
Sequence:
RefSeq Acc Id: XR_002957779
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381630,023,198 - 30,027,186 (+)NCBI
Sequence:
RefSeq Acc Id: XR_008489059
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01630,305,831 - 30,309,819 (+)NCBI
RefSeq Acc Id: XR_008489060
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01630,305,831 - 30,309,819 (+)NCBI
RefSeq Acc Id: XR_008489061
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01630,305,831 - 30,309,819 (+)NCBI
RefSeq Acc Id: XR_008489062
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01630,305,831 - 30,309,819 (+)NCBI
RefSeq Acc Id: NP_001103129   ⟸   NM_001109659
- Peptide Label: isoform 1 precursor
- UniProtKB: Q96LL3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001103130   ⟸   NM_001109660
- Peptide Label: isoform 2
- UniProtKB: Q494R8 (UniProtKB/Swiss-Prot),   Q96LL3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024305930   ⟸   XM_024450162
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001340308   ⟸   NM_001353379
- Peptide Label: isoform 3 precursor
- Sequence:
Ensembl Acc Id: ENSP00000456798   ⟸   ENST00000561910
Ensembl Acc Id: ENSP00000300575   ⟸   ENST00000300575
Ensembl Acc Id: ENSP00000458048   ⟸   ENST00000567847
Ensembl Acc Id: ENSP00000454560   ⟸   ENST00000569198
Ensembl Acc Id: ENSP00000506393   ⟸   ENST00000681219
RefSeq Acc Id: XP_054235640   ⟸   XM_054379665
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96LL3-F1-model_v2 AlphaFold Q96LL3 1-132 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26346 AgrOrtholog
COSMIC C16orf92 COSMIC
Ensembl Genes ENSG00000167194 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000300575 ENTREZGENE
  ENST00000300575.6 UniProtKB/Swiss-Prot
  ENST00000561910.5 UniProtKB/TrEMBL
  ENST00000567847.1 UniProtKB/TrEMBL
  ENST00000569198.1 UniProtKB/TrEMBL
  ENST00000681219 ENTREZGENE
  ENST00000681219.1 UniProtKB/Swiss-Prot
GTEx ENSG00000167194 GTEx
HGNC ID HGNC:26346 ENTREZGENE
Human Proteome Map C16orf92 Human Proteome Map
InterPro C16orf92 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:146378 UniProtKB/Swiss-Prot
NCBI Gene 146378 ENTREZGENE
OMIM 618911 OMIM
PANTHER FERTILIZATION-INFLUENCING MEMBRANE PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR38648 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DUF5589 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA164716866 PharmGKB
UniProt CP092_HUMAN UniProtKB/Swiss-Prot
  H3BMV0_HUMAN UniProtKB/TrEMBL
  H3BSP6_HUMAN UniProtKB/TrEMBL
  H3BVC3_HUMAN UniProtKB/TrEMBL
  Q494R8 ENTREZGENE
  Q96LL3 ENTREZGENE
UniProt Secondary Q494R8 UniProtKB/Swiss-Prot