GDPD3 (glycerophosphodiester phosphodiesterase domain containing 3) - Rat Genome Database

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Gene: GDPD3 (glycerophosphodiester phosphodiesterase domain containing 3) Homo sapiens
Analyze
Symbol: GDPD3
Name: glycerophosphodiester phosphodiesterase domain containing 3
RGD ID: 1601852
HGNC Page HGNC:28638
Description: Enables phosphoric diester hydrolase activity. Involved in N-acylethanolamine metabolic process. Located in endoplasmic reticulum.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ22603; GDE7; glycerophosphodiester phosphodiesterase 7; glycerophosphodiester phosphodiesterase domain-containing protein 3; lysophospholipase D GDPD3; MGC4171
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
GRCh381630,104,810 - 30,113,537 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1630,104,810 - 30,113,537 (-)EnsemblGRCh38hg38GRCh38
GRCh371630,116,131 - 30,124,858 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361630,023,632 - 30,032,379 (-)NCBINCBI36Build 36hg18NCBI36
Celera1672,671,173 - 72,679,590 (+)NCBICelera
Cytogenetic Map16p11.2NCBI
HuRef1627,777,317 - 27,786,009 (-)NCBIHuRef
CHM1_11631,331,886 - 31,340,633 (-)NCBICHM1_1
T2T-CHM13v2.01630,387,452 - 30,396,184 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1-[(4-chlorophenyl)-phenylmethyl]-4-methylpiperazine  (EXP)
1-[3-(dimethylamino)propyl]-1-(4-fluorophenyl)-1,3-dihydro-2-benzofuran-5-carbonitrile  (EXP)
1-naphthyl isothiocyanate  (EXP)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2-hydroxypropanoic acid  (EXP)
4,4'-sulfonyldiphenol  (EXP)
amiodarone  (EXP)
amitriptyline  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
benzo[a]pyrene  (EXP)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (ISO)
calcitriol  (EXP)
CGP 52608  (EXP)
chlordecone  (ISO)
chlorpromazine  (EXP)
chlorpyrifos  (ISO)
chromium(6+)  (EXP)
citalopram  (EXP)
clobetasol  (ISO)
clofibrate  (ISO)
clomipramine  (EXP)
clozapine  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP)
diuron  (ISO)
doxepin  (EXP)
Enterolactone  (EXP)
flecainide  (EXP)
fluoxetine  (EXP)
folic acid  (EXP)
haloperidol  (EXP)
hydroquinone  (EXP)
imipramine  (EXP)
ketoconazole  (EXP)
loratadine  (EXP)
ozone  (EXP)
paraquat  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctanoic acid  (EXP)
perhexiline  (EXP)
phytoestrogen  (EXP)
rac-lactic acid  (EXP)
resveratrol  (EXP)
sertraline  (EXP)
sodium arsenate  (EXP)
sodium fluoride  (ISO)
sotalol  (EXP)
tamoxifen  (EXP)
testosterone  (EXP)
testosterone undecanoate  (EXP)
Theaflavin 3,3'-digallate  (EXP)
thioridazine  (EXP)
triazines  (ISO)
trichloroethene  (ISO)
triphenyl phosphate  (EXP)
triptonide  (ISO)
urethane  (EXP)
valproic acid  (EXP)
zimeldine  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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. 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:8125298   PMID:8895530   PMID:12477932   PMID:14702039   PMID:15489334   PMID:19056867   PMID:21145461   PMID:21873635   PMID:23376485   PMID:23533145   PMID:25056061   PMID:27637550  
PMID:28514442   PMID:32430316   PMID:32707033   PMID:33961781   PMID:34673020   PMID:37164154   PMID:37193762   PMID:37314216  


Genomics

Comparative Map Data
GDPD3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381630,104,810 - 30,113,537 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1630,104,810 - 30,113,537 (-)EnsemblGRCh38hg38GRCh38
GRCh371630,116,131 - 30,124,858 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361630,023,632 - 30,032,379 (-)NCBINCBI36Build 36hg18NCBI36
Celera1672,671,173 - 72,679,590 (+)NCBICelera
Cytogenetic Map16p11.2NCBI
HuRef1627,777,317 - 27,786,009 (-)NCBIHuRef
CHM1_11631,331,886 - 31,340,633 (-)NCBICHM1_1
T2T-CHM13v2.01630,387,452 - 30,396,184 (-)NCBIT2T-CHM13v2.0
Gdpd3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397126,365,586 - 126,374,817 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7126,365,506 - 126,374,821 (+)EnsemblGRCm39 Ensembl
GRCm387126,766,414 - 126,775,645 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7126,766,334 - 126,775,649 (+)EnsemblGRCm38mm10GRCm38
MGSCv377133,909,928 - 133,919,159 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367126,558,321 - 126,566,793 (+)NCBIMGSCv36mm8
Celera7126,613,769 - 126,622,967 (+)NCBICelera
Cytogenetic Map7F3NCBI
cM Map769.25NCBI
Gdpd3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81190,804,053 - 190,813,609 (+)NCBIGRCr8
mRatBN7.21181,373,505 - 181,383,063 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1181,366,626 - 181,383,063 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1189,724,810 - 189,734,377 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01196,910,884 - 196,920,451 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01189,578,238 - 189,587,789 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01198,199,032 - 198,209,178 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1198,199,622 - 198,209,150 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01205,178,902 - 205,189,234 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41185,941,893 - 185,984,348 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11186,091,716 - 186,101,328 (+)NCBI
Celera1179,029,033 - 179,038,589 (+)NCBICelera
Cytogenetic Map1q36NCBI
Gdpd3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554936,877,486 - 6,883,698 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554936,876,943 - 6,883,716 (+)NCBIChiLan1.0ChiLan1.0
GDPD3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21830,854,698 - 30,863,889 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11635,361,980 - 35,371,180 (+)NCBINHGRI_mPanPan1
PanPan1.11630,479,684 - 30,488,868 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1630,479,684 - 30,488,868 (-)Ensemblpanpan1.1panPan2
GDPD3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1618,103,273 - 18,108,818 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl618,103,267 - 18,108,533 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha619,681,939 - 19,687,461 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0618,239,288 - 18,244,820 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl618,239,282 - 18,251,475 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1618,038,241 - 18,043,775 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0617,953,632 - 17,959,163 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0618,269,266 - 18,274,790 (-)NCBIUU_Cfam_GSD_1.0
Gdpd3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344124,292,889 - 124,300,022 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493650112,391,314 - 12,397,864 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493650112,391,204 - 12,397,877 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GDPD3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl318,282,889 - 18,292,092 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1318,282,574 - 18,291,307 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
GDPD3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1526,545,766 - 26,554,767 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl526,546,323 - 26,554,700 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660682,984,234 - 2,992,852 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gdpd3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478213,158,975 - 13,164,070 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478213,158,514 - 13,164,090 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GDPD3
25 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 16p11.2(chr16:29565626-30221925)x1 copy number loss See cases [RCV001564036] Chr16:29565626..30221925 [GRCh37]
Chr16:16p11.2		 pathogenic
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
GRCh37/hg19 16p11.2(chr16:29673954-30198600) copy number gain Autism [RCV001291991] Chr16:29673954..30198600 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29652999-30197341) 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(chr16:29555974-30308986)x1 copy number loss See cases [RCV000140452] Chr16:29555974..30308986 [GRCh38]
Chr16:29567295..30320307 [GRCh37]
Chr16:29474796..30227808 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29581462-30185969)x3 copy number gain See cases [RCV000140510] Chr16:29581462..30185969 [GRCh38]
Chr16:29592783..30197290 [GRCh37]
Chr16:29500284..30104791 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3 copy number gain See cases [RCV000140341] Chr16:27311746..31193406 [GRCh38]
Chr16:27323067..31204727 [GRCh37]
Chr16:27230568..31112228 [NCBI36]
Chr16:16p12.1-11.2		 pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3 copy number gain See cases [RCV000141141] Chr16:23752047..31943755 [GRCh38]
Chr16:23763368..31955076 [GRCh37]
Chr16:23670869..31862577 [NCBI36]
Chr16:16p12.2-11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29427948-30186020)x1 copy number loss See cases [RCV000141285] Chr16:29427948..30186020 [GRCh38]
Chr16:29439269..30197341 [GRCh37]
Chr16:29346770..30104842 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29609368-30185969)x1 copy number loss See cases [RCV000141120] Chr16:29609368..30185969 [GRCh38]
Chr16:29620689..30197290 [GRCh37]
Chr16:29528190..30104791 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30215609)x1 copy number loss See cases [RCV000140887] Chr16:29555974..30215609 [GRCh38]
Chr16:29567295..30226930 [GRCh37]
Chr16:29474796..30134431 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29568699-30166595)x1 copy number loss See cases [RCV000141992] Chr16:29568699..30166595 [GRCh38]
Chr16:29580020..30177916 [GRCh37]
Chr16:29487521..30085417 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29506377-30180527)x3 copy number gain See cases [RCV000141993] Chr16:29506377..30180527 [GRCh38]
Chr16:29517698..30191848 [GRCh37]
Chr16:29425199..30099349 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29568699-30295634)x3 copy number gain See cases [RCV000141947] Chr16:29568699..30295634 [GRCh38]
Chr16:29580020..30306955 [GRCh37]
Chr16:29487521..30214456 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29568699-30166678)x1 copy number loss See cases [RCV000141749] Chr16:29568699..30166678 [GRCh38]
Chr16:29580020..30177999 [GRCh37]
Chr16:29487521..30085500 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29569779-30228906)x3 copy number gain See cases [RCV000141682] Chr16:29569779..30228906 [GRCh38]
Chr16:29581100..30240227 [GRCh37]
Chr16:29488601..30147728 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30309999)x1 copy number loss See cases [RCV000141685] Chr16:29555974..30309999 [GRCh38]
Chr16:29567295..30321320 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29555975-30180527)x3 copy number gain See cases [RCV000142335] Chr16:29555975..30180527 [GRCh38]
Chr16:29567296..30191848 [GRCh37]
Chr16:29474797..30099349 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29662646-30179272)x1 copy number loss See cases [RCV000142500] Chr16:29662646..30179272 [GRCh38]
Chr16:29673967..30190593 [GRCh37]
Chr16:29581468..30098094 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29506377-30165919)x3 copy number gain See cases [RCV000142063] Chr16:29506377..30165919 [GRCh38]
Chr16:29517698..30177240 [GRCh37]
Chr16:29425199..30084741 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29513831-30206791)x1 copy number loss See cases [RCV000142087] Chr16:29513831..30206791 [GRCh38]
Chr16:29525152..30218112 [GRCh37]
Chr16:29432653..30125613 [NCBI36]
Chr16:16p11.2		 uncertain significance
GRCh38/hg38 16p11.2(chr16:29555974-30178708)x1 copy number loss See cases [RCV000142045] Chr16:29555974..30178708 [GRCh38]
Chr16:29567295..30190029 [GRCh37]
Chr16:29474796..30097530 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29682770-30186020)x3 copy number gain See cases [RCV000142875] Chr16:29682770..30186020 [GRCh38]
Chr16:29694091..30197341 [GRCh37]
Chr16:29601592..30104842 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29581470-30321248)x3 copy number gain See cases [RCV000142929] Chr16:29581470..30321248 [GRCh38]
Chr16:29592791..30332569 [GRCh37]
Chr16:29500292..30240070 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30166595)x1 copy number loss See cases [RCV000143363] Chr16:29555974..30166595 [GRCh38]
Chr16:29567295..30177916 [GRCh37]
Chr16:29474796..30085417 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29579757-30228906)x3 copy number gain See cases [RCV000143364] Chr16:29579757..30228906 [GRCh38]
Chr16:29591078..30240227 [GRCh37]
Chr16:29498579..30147728 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29892937-30433124)x3 copy number gain See cases [RCV000143385] Chr16:29892937..30433124 [GRCh38]
Chr16:29904258..30444445 [GRCh37]
Chr16:29811759..30351946 [NCBI36]
Chr16:16p11.2		 pathogenic|likely benign
GRCh38/hg38 16p11.2(chr16:29568699-30228906)x3 copy number gain See cases [RCV000143431] Chr16:29568699..30228906 [GRCh38]
Chr16:29580020..30240227 [GRCh37]
Chr16:29487521..30147728 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30309999)x3 copy number gain See cases [RCV000143386] Chr16:29555974..30309999 [GRCh38]
Chr16:29567295..30321320 [GRCh37]
Chr16:29474796..30228821 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29598613-30165919)x3 copy number gain See cases [RCV000143305] Chr16:29598613..30165919 [GRCh38]
Chr16:29609934..30177240 [GRCh37]
Chr16:29517435..30084741 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29420891-30166595)x1 copy number loss See cases [RCV000143228] Chr16:29420891..30166595 [GRCh38]
Chr16:29432212..30177916 [GRCh37]
Chr16:29339713..30085417 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30166486)x1 copy number loss See cases [RCV000143670] Chr16:29555974..30166486 [GRCh38]
Chr16:29567295..30177807 [GRCh37]
Chr16:29474796..30085308 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29627319-30165919)x3 copy number gain See cases [RCV000143581] Chr16:29627319..30165919 [GRCh38]
Chr16:29638640..30177240 [GRCh37]
Chr16:29546141..30084741 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30166678)x1 copy number loss See cases [RCV000143478] Chr16:29555974..30166678 [GRCh38]
Chr16:29567295..30177999 [GRCh37]
Chr16:29474796..30085500 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30167085)x1 copy number loss See cases [RCV000143457] Chr16:29555974..30167085 [GRCh38]
Chr16:29567295..30178406 [GRCh37]
Chr16:29474796..30085907 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29581462-30321260)x1 copy number loss See cases [RCV000148288] Chr16:29581462..30321260 [GRCh38]
Chr16:29592783..30332581 [GRCh37]
Chr16:29500284..30240082 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29662633-30179247)x1 copy number loss See cases [RCV000148134] Chr16:29662633..30179247 [GRCh38]
Chr16:29673954..30190568 [GRCh37]
Chr16:29581455..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29662633-30179247)x3 copy number gain See cases [RCV000148254]|See cases [RCV000509065] Chr16:29662633..30179247 [GRCh38]
Chr16:29673954..30190568 [GRCh37]
Chr16:29581455..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x1 copy number loss See cases [RCV000148148] Chr16:28492482..30179247 [GRCh38]
Chr16:28503803..30190568 [GRCh37]
Chr16:28411304..30098069 [NCBI36]
Chr16:16p12.1-11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29662633-30187279)x1 copy number loss See cases [RCV000148157] Chr16:29662633..30187279 [GRCh38]
Chr16:29673954..30198600 [GRCh37]
Chr16:29581455..30106101 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29170820-30179247)x3 copy number gain See cases [RCV000148119] Chr16:29170820..30179247 [GRCh38]
Chr16:29182141..30190568 [GRCh37]
Chr16:29089642..30098069 [NCBI36]
Chr16:16p11.2		 uncertain significance
GRCh38/hg38 16p11.2(chr16:29662633-30321260)x3 copy number gain See cases [RCV000148123] Chr16:29662633..30321260 [GRCh38]
Chr16:29673954..30332581 [GRCh37]
Chr16:29581455..30240082 [NCBI36]
Chr16:16p11.2		 uncertain significance
GRCh38/hg38 16p11.2(chr16:29227272-30179247)x3 copy number gain See cases [RCV000148125] Chr16:29227272..30179247 [GRCh38]
Chr16:29238593..30190568 [GRCh37]
Chr16:29146094..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29227272-30179247)x1 copy number loss See cases [RCV000148095] Chr16:29227272..30179247 [GRCh38]
Chr16:29238593..30190568 [GRCh37]
Chr16:29146094..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29581462-30179247)x3 copy number gain See cases [RCV000148096] Chr16:29581462..30179247 [GRCh38]
Chr16:29592783..30190568 [GRCh37]
Chr16:29500284..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29581462-30179247)x1 copy number loss See cases [RCV000148097] Chr16:29581462..30179247 [GRCh38]
Chr16:29592783..30190568 [GRCh37]
Chr16:29500284..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29060171-30197341)x3 copy number gain See cases [RCV000240123] Chr16:29060171..30197341 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29060171-30195607)x3 copy number gain See cases [RCV000239797] Chr16:29060171..30195607 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29841933-30381027)x3 copy number gain Breast ductal adenocarcinoma [RCV000207131] Chr16:29841933..30381027 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
NC_000016.10:g.(?_29506378)_(30180574_?)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
NC_000016.9:g.(?_30078199)_(30199917_?)dup duplication Severe combined immunodeficiency due to CORO1A deficiency [RCV000525191] Chr16:30066878..30188596 [GRCh38]
Chr16:30078199..30199917 [GRCh37]
Chr16:16p11.2		 uncertain significance
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
NC_000016.10:g.(?_30066878)_(30188984_?)del deletion Severe combined immunodeficiency due to CORO1A deficiency [RCV000815913] Chr16:30066878..30188984 [GRCh38]
Chr16:30078199..30200305 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29591078-30177916)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 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(chr16:29567295-30177240)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(chr16:29656684-30197341) copy number gain Abnormality of the eye [RCV000626509] Chr16:29656684..30197341 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_024307.3(GDPD3):c.893C>T (p.Thr298Met) single nucleotide variant not specified [RCV004324187] Chr16:30104936 [GRCh38]
Chr16:30116257 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NC_000016.10:g.(?_30066878)_(30188596_?)del deletion Severe combined immunodeficiency due to CORO1A deficiency [RCV000651712] Chr16:30066878..30188596 [GRCh38]
Chr16:30078199..30199917 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_024307.3(GDPD3):c.819+9G>T single nucleotide variant not provided [RCV004715310]|not specified [RCV000615715] Chr16:30108204 [GRCh38]
Chr16:30108204..30108205 [GRCh38]
Chr16:30119525 [GRCh37]
Chr16:30119525..30119526 [GRCh37]
Chr16:16p11.2		 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(chr16:29571474-30243606)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(chr16:29432212-30339520)x1 copy number loss not provided [RCV000683809] Chr16:29432212..30339520 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29351826-30332071)x1 copy number loss not provided [RCV000683806] Chr16:29351826..30332071 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29567295-30177916)x1 copy number loss not provided [RCV000683810] Chr16:29567295..30177916 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29567295-30240227)x3 copy number gain not provided [RCV000683811] Chr16:29567295..30240227 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29567295-30344958)x1 copy number loss not provided [RCV000683812] Chr16:29567295..30344958 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29580020-30178406)x1 copy number loss not provided [RCV000683813] Chr16:29580020..30178406 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29580020-30191848)x3 copy number gain not provided [RCV000683814] Chr16:29580020..30191848 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29591078-30243606)x3 copy number gain not provided [RCV000683815] Chr16:29591078..30243606 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29608323-30177240)x3 copy number gain not provided [RCV000683816] Chr16:29608323..30177240 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29652999-30197341)x1 copy number loss not provided [RCV000683817] Chr16:29652999..30197341 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)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
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
NM_024307.3(GDPD3):c.392G>A (p.Arg131His) single nucleotide variant not specified [RCV004293522] Chr16:30112397 [GRCh38]
Chr16:30123718 [GRCh37]
Chr16:16p11.2		 likely benign
GRCh37/hg19 16p11.2(chr16:29656093-30192561)x3 copy number gain not provided [RCV000751641] Chr16:29656093..30192561 [GRCh37]
Chr16:16p11.2		 uncertain significance
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(chr16:29532264-30271237) copy number gain Chromosome 16p11.2 duplication syndrome [RCV000767611] Chr16:29532264..30271237 [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(chr16:29827174-30198041) copy number gain Chromosome 16p11.2 duplication syndrome [RCV000767618] Chr16:29827174..30198041 [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(chr16:29595483-30199713) copy number loss Proximal 16p11.2 microdeletion syndrome [RCV000767658] Chr16:29595483..30199713 [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(chr16:29595483-30199713) 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(chr16:29674336-30199351)x1 copy number loss Proximal 16p11.2 microdeletion syndrome [RCV000856637] Chr16:29674336..30199351 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29674336-30198123)x1 copy number loss Proximal 16p11.2 microdeletion syndrome [RCV000856638] Chr16:29674336..30198123 [GRCh37]
Chr16:16p11.2		 pathogenic
NC_000016.9:g.(?_30078199)_(30200305_?)dup duplication Severe combined immunodeficiency due to CORO1A deficiency [RCV000808632] Chr16:30066878..30188984 [GRCh38]
Chr16:30078199..30200305 [GRCh37]
Chr16:16p11.2		 uncertain significance
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 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(chr16:28466730-30191848)x1 copy number loss not provided [RCV000846340] Chr16:28466730..30191848 [GRCh37]
Chr16:16p11.2		 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(chr16:29595483-30215621)x1 copy number loss See cases [RCV001194595] Chr16:29595483..30215621 [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(chr16:29675050-30218384)x1 copy number loss not provided [RCV003312363] Chr16:29675050..30218384 [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(chr16:29495011-30206548) copy number loss Infantile convulsions and choreoathetosis [RCV003236744] Chr16:29495011..30206548 [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(chr16:29622758-30240227)x3 copy number gain not provided [RCV002472648] Chr16:29622758..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
GRCh37/hg19 16p11.2(chr16:29567296-30240227)x3 copy number gain not provided [RCV002473789] Chr16:29567296..30240227 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29567296-30240227)x1 copy number loss not provided [RCV002473793] Chr16:29567296..30240227 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29432212-30177240)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 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(chr16:29448001-30302100) copy number gain See cases [RCV001263033] Chr16:29448001..30302100 [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(chr16:29580020-30177916) copy number loss Proximal 16p11.2 microdeletion syndrome [RCV002280642] Chr16:29580020..30177916 [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(chr16:28488319-30178406)x1 copy number loss not provided [RCV001258616] Chr16:28488319..30178406 [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(chr16:29383808-30177240)x3 copy number gain not provided [RCV001258617] Chr16:29383808..30177240 [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
NC_000016.9:g.(?_29802081)_(30200285_?)dup duplication Episodic kinesigenic dyskinesia [RCV001325791] Chr16:29802081..30200285 [GRCh37]
Chr16:16p11.2		 uncertain significance
NC_000016.9:g.(?_29802081)_(30199917_?)dup duplication Episodic kinesigenic dyskinesia [RCV003120586]|HNSHA due to aldolase A deficiency [RCV001373865]|Severe combined immunodeficiency due to CORO1A deficiency [RCV001865862] Chr16:29802081..30199917 [GRCh37]
Chr16:16p11.2		 uncertain significance
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_?)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
Single allele deletion Proximal 16p11.2 microdeletion syndrome [RCV001391671] Chr16:29675044..30212202 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29675050-30218221)x1 copy number loss not provided [RCV001532339] Chr16:29675050..30218221 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 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
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(chr16:29974415-30596982)x1 copy number loss Distal 16p11.2 microdeletion syndrome [RCV001801174] Chr16:29974415..30596982 [GRCh37]
Chr16:16p11.2		 likely pathogenic
GRCh37/hg19 16p11.2(chr16:29675000-30199844)x1 copy number loss Distal 16p11.2 microdeletion syndrome [RCV001801175] Chr16:29675000..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(chr16:29675000-30200335)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(chr16:29591078-30177240) 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(chr16:29464904-30233799)x3 copy number gain Distal 16p11.2 microdeletion syndrome [RCV001801184] Chr16:29464904..30233799 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29511270-30200335)x1 copy number loss Distal 16p11.2 microdeletion syndrome [RCV001801183] Chr16:29511270..30200335 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29511270-30199844)x1 copy number loss Distal 16p11.2 microdeletion syndrome [RCV001801199] Chr16:29511270..30199844 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29808153-30750270)x3 copy number gain Chromosome 16p11.2 duplication syndrome [RCV001801218] Chr16:29808153..30750270 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29567295-30177916) copy number loss Mayer Rokitansky Kuster Hauser syndrome type 1 [RCV002280626] Chr16:29567295..30177916 [GRCh37]
Chr16:16p11.2		 pathogenic
Single allele deletion Chromosome 16p11.2 duplication syndrome [RCV002280356] Chr16:29663598..30188229 [GRCh38]
Chr16:16p11.2		 pathogenic
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(chr16:29678569-30198121)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
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
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(chr16:29567296-30177807)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(chr16:29628661-30306955) copy number gain Chromosome 16p11.2 duplication syndrome [RCV002280688] Chr16:29628661..30306955 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3 copy number gain not provided [RCV002472599] Chr16:4380767..30445350 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:28466731-30321320)x1 copy number loss not provided [RCV002472634] Chr16:28466731..30321320 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21576803-30177240)x3 copy number gain not provided [RCV002474541] Chr16:21576803..30177240 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
NM_024307.3(GDPD3):c.913C>T (p.Arg305Trp) single nucleotide variant not specified [RCV004202467] Chr16:30104916 [GRCh38]
Chr16:30116237 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_024307.3(GDPD3):c.391C>T (p.Arg131Cys) single nucleotide variant not specified [RCV004207649] Chr16:30112398 [GRCh38]
Chr16:30123719 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_024307.3(GDPD3):c.503G>A (p.Arg168His) single nucleotide variant not specified [RCV004204309] Chr16:30112202 [GRCh38]
Chr16:30123523 [GRCh37]
Chr16:16p11.2		 likely benign
NM_024307.3(GDPD3):c.625C>T (p.Leu209Phe) single nucleotide variant not specified [RCV004129072] Chr16:30111470 [GRCh38]
Chr16:30122791 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_024307.3(GDPD3):c.74G>A (p.Arg25Gln) single nucleotide variant not specified [RCV004209215] Chr16:30113405 [GRCh38]
Chr16:30124726 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_024307.3(GDPD3):c.811G>A (p.Gly271Arg) single nucleotide variant not specified [RCV004222826] Chr16:30108221 [GRCh38]
Chr16:30119542 [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
NM_024307.3(GDPD3):c.511C>T (p.Arg171Cys) single nucleotide variant not specified [RCV004069716] Chr16:30112194 [GRCh38]
Chr16:30123515 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_024307.3(GDPD3):c.16T>C (p.Tyr6His) single nucleotide variant not specified [RCV004115254] Chr16:30113463 [GRCh38]
Chr16:30124784 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_024307.3(GDPD3):c.275G>A (p.Arg92His) single nucleotide variant not specified [RCV004210204] Chr16:30112701 [GRCh38]
Chr16:30124022 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_024307.3(GDPD3):c.580G>A (p.Glu194Lys) single nucleotide variant not specified [RCV004215606] Chr16:30111515 [GRCh38]
Chr16:30122836 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_024307.3(GDPD3):c.619G>T (p.Val207Leu) single nucleotide variant not specified [RCV004280401] Chr16:30111476 [GRCh38]
Chr16:30122797 [GRCh37]
Chr16:16p11.2		 likely benign
NM_024307.3(GDPD3):c.806A>C (p.Glu269Ala) single nucleotide variant not specified [RCV004274926] Chr16:30108226 [GRCh38]
Chr16:30119547 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh38/hg38 16p11.2(chr16:29653297-30181026) copy number loss See cases [RCV003223561] Chr16:29653297..30181026 [GRCh38]
Chr16:16p11.2		 pathogenic
NM_024307.3(GDPD3):c.757G>C (p.Val253Leu) single nucleotide variant not specified [RCV004252142] Chr16:30108383 [GRCh38]
Chr16:30119704 [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(chr16:29517464-30200058)x1 copy number loss Distal 16p11.2 microdeletion syndrome [RCV003329542] Chr16:29517464..30200058 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29517464-30199839)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)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
GRCh37/hg19 16p11.2(chr16:29495010-30212427)x1 copy number loss not provided [RCV003456961] Chr16:29495010..30212427 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_024307.3(GDPD3):c.490G>A (p.Gly164Ser) single nucleotide variant not specified [RCV004359554] Chr16:30112215 [GRCh38]
Chr16:30123536 [GRCh37]
Chr16:16p11.2		 uncertain significance
Single allele duplication not provided [RCV003448664] Chr16:29651786..30199024 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29343245-30240227)x1 copy number loss not provided [RCV003483285] Chr16:29343245..30240227 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29517698-30191848)x1 copy number loss not provided [RCV003483289] Chr16:29517698..30191848 [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(chr16:29432213-30226930)x1 copy number loss not provided [RCV003483288] Chr16:29432213..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
GRCh38/hg38 16p11.2(chr16:29329272-30178707)x1 copy number loss Proximal 16p11.2 microdeletion syndrome [RCV003883244] Chr16:29329272..30178707 [GRCh38]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29642391-30204353) copy number loss Epilepsy syndrome [RCV003986077] Chr16:29642391..30204353 [GRCh38]
Chr16:16p11.2		 pathogenic|low penetrance
GRCh37/hg19 16p11.2(chr16:29427215-30177240)x1 copy number loss not specified [RCV003987165] Chr16:29427215..30177240 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29383808-30191848)x1 copy number loss not specified [RCV003987159] Chr16:29383808..30191848 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29432212-30178406)x1 copy number loss not specified [RCV003987145] Chr16:29432212..30178406 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29428532-30190029)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(chr16:29472703-30256894)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
GRCh37/hg19 16p11.2(chr16:29580021-30190029)x3 copy number gain not provided [RCV004442835] Chr16:29580021..30190029 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_024307.3(GDPD3):c.466G>A (p.Glu156Lys) single nucleotide variant not specified [RCV004387638] Chr16:30112323 [GRCh38]
Chr16:30123644 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_024307.3(GDPD3):c.820G>A (p.Val274Met) single nucleotide variant not specified [RCV004387642] Chr16:30105009 [GRCh38]
Chr16:30116330 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_024307.3(GDPD3):c.205C>A (p.Leu69Ile) single nucleotide variant not specified [RCV004387636] Chr16:30112771 [GRCh38]
Chr16:30124092 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_024307.3(GDPD3):c.728G>A (p.Cys243Tyr) single nucleotide variant not specified [RCV004387640] Chr16:30108412 [GRCh38]
Chr16:30119733 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_024307.3(GDPD3):c.118C>T (p.Arg40Cys) single nucleotide variant not specified [RCV004387635] Chr16:30113361 [GRCh38]
Chr16:30124682 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_024307.3(GDPD3):c.462G>C (p.Lys154Asn) single nucleotide variant not specified [RCV004387637] Chr16:30112327 [GRCh38]
Chr16:30123648 [GRCh37]
Chr16:16p11.2		 likely benign
NC_000016.9:g.(?_28889993)_(31202759_?)del deletion Dilated Cardiomyopathy, Dominant [RCV004582801] Chr16:28889993..31202759 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_024307.3(GDPD3):c.725C>T (p.Ser242Phe) single nucleotide variant not specified [RCV004626866] Chr16:30108415 [GRCh38]
Chr16:30119736 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_024307.3(GDPD3):c.557A>C (p.Lys186Thr) single nucleotide variant not specified [RCV004626867] Chr16:30112148 [GRCh38]
Chr16:30123469 [GRCh37]
Chr16:16p11.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1485
Count of miRNA genes:649
Interacting mature miRNAs:739
Transcripts:ENST00000360688, ENST00000406256, ENST00000565704, ENST00000566434, ENST00000566613
Prediction methods: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
407304662GWAS953638_Hlean body mass QTL GWAS953638 (human)5e-42body lean mass (VT:0010483)total body lean mass (CMO:0003950)163010593230105933Human
407247899GWAS896875_Hbody mass index QTL GWAS896875 (human)1e-13body mass indexbody mass index (BMI) (CMO:0000105)163010898030108981Human
407253035GWAS902011_Hmean corpuscular hemoglobin concentration QTL GWAS902011 (human)3e-11mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)163010903230109033Human
407333832GWAS982808_Hdiastolic blood pressure QTL GWAS982808 (human)1e-09diastolic blood pressurediastolic blood pressure (CMO:0000005)163010820430108205Human

Markers in Region
G15873  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371630,125,757 - 30,125,995UniSTSGRCh37
Build 361630,033,258 - 30,033,496RGDNCBI36
Celera1672,670,056 - 72,670,294RGD
Cytogenetic Map16p11.2UniSTS
HuRef1627,786,888 - 27,787,126UniSTS
SHGC-34253  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371630,116,148 - 30,116,275UniSTSGRCh37
Build 361630,023,649 - 30,023,776RGDNCBI36
Celera1672,679,446 - 72,679,573RGD
Cytogenetic Map16p11.2UniSTS
HuRef1627,777,334 - 27,777,461UniSTS
TNG Radiation Hybrid Map1616644.0UniSTS
RH77963  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371630,125,591 - 30,125,758UniSTSGRCh37
Build 361630,033,092 - 30,033,259RGDNCBI36
Celera1672,670,293 - 72,670,460RGD
Cytogenetic Map16p11.2UniSTS
HuRef1627,786,722 - 27,786,889UniSTS
SHGC-61070  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371630,125,451 - 30,125,634UniSTSGRCh37
Build 361630,032,952 - 30,033,135RGDNCBI36
Celera1672,670,417 - 72,670,600RGD
Cytogenetic Map16p11.2UniSTS
HuRef1627,786,582 - 27,786,765UniSTS
MAPK3_2268  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371630,125,272 - 30,126,022UniSTSGRCh37
Build 361630,032,773 - 30,033,523RGDNCBI36
Celera1672,670,029 - 72,670,779RGD
HuRef1627,786,403 - 27,787,153UniSTS


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
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2438 2788 2246 4947 1723 2349 6 624 1947 465 2269 7294 6461 52 3712 1 851 1739 1614 173 1

Sequence


Ensembl Acc Id: ENST00000360688
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,104,810 - 30,113,537 (-)Ensembl
Ensembl Acc Id: ENST00000406256   ⟹   ENSP00000384363
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,104,810 - 30,113,537 (-)Ensembl
Ensembl Acc Id: ENST00000565704
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,104,810 - 30,108,498 (-)Ensembl
Ensembl Acc Id: ENST00000566434   ⟹   ENSP00000455508
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,104,815 - 30,108,432 (-)Ensembl
Ensembl Acc Id: ENST00000566613   ⟹   ENSP00000454472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,104,844 - 30,111,396 (-)Ensembl
RefSeq Acc Id: NM_024307   ⟹   NP_077283
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381630,104,810 - 30,113,537 (-)NCBI
GRCh371630,115,977 - 30,125,264 (-)NCBI
Build 361630,023,632 - 30,032,379 (-)NCBI Archive
Celera1672,671,173 - 72,679,590 (+)RGD
HuRef1627,777,317 - 27,786,009 (-)ENTREZGENE
CHM1_11631,331,886 - 31,340,633 (-)NCBI
T2T-CHM13v2.01630,387,452 - 30,396,184 (-)NCBI
Sequence:
RefSeq Acc Id: XR_007064912
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381630,111,418 - 30,113,537 (-)NCBI
RefSeq Acc Id: NP_077283   ⟸   NM_024307
- UniProtKB: Q9H652 (UniProtKB/Swiss-Prot),   Q7L5L3 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000384363   ⟸   ENST00000406256
Ensembl Acc Id: ENSP00000454472   ⟸   ENST00000566613
Ensembl Acc Id: ENSP00000455508   ⟸   ENST00000566434
Protein Domains
GP-PDE

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q7L5L3-F1-model_v2 AlphaFold Q7L5L3 1-318 view protein structure

Promoters
RGD ID:6793174
Promoter ID:HG_KWN:23508
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000323517,   NR_027081,   UC002DWQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361630,031,461 - 30,033,162 (-)MPROMDB
RGD ID:7231933
Promoter ID:EPDNEW_H21712
Type:initiation region
Name:GDPD3_1
Description:glycerophosphodiester phosphodiesterase domain containing 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21713  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381630,113,537 - 30,113,597EPDNEW
RGD ID:7231937
Promoter ID:EPDNEW_H21713
Type:initiation region
Name:GDPD3_2
Description:glycerophosphodiester phosphodiesterase domain containing 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21712  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381630,116,756 - 30,116,816EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28638 AgrOrtholog
COSMIC GDPD3 COSMIC
Ensembl Genes ENSG00000102886 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000406256 ENTREZGENE
  ENST00000406256.8 UniProtKB/Swiss-Prot
  ENST00000566434.5 UniProtKB/TrEMBL
  ENST00000566613.1 UniProtKB/TrEMBL
Gene3D-CATH 3.20.20.190 UniProtKB/Swiss-Prot
GTEx ENSG00000102886 GTEx
HGNC ID HGNC:28638 ENTREZGENE
Human Proteome Map GDPD3 Human Proteome Map
InterPro GDPD-Related UniProtKB/Swiss-Prot
  GP_PDE_dom UniProtKB/Swiss-Prot
  PLC-like_Pdiesterase_TIM-brl UniProtKB/Swiss-Prot
KEGG Report hsa:79153 UniProtKB/Swiss-Prot
NCBI Gene 79153 ENTREZGENE
OMIM 616318 OMIM
PANTHER LYSOPHOSPHOLIPASE D GDPD3 UniProtKB/Swiss-Prot
  PHOSPHATIDYLGLYCEROL PHOSPHOLIPASE C UniProtKB/Swiss-Prot
Pfam GDPD UniProtKB/Swiss-Prot
PharmGKB PA142671741 PharmGKB
PROSITE GP_PDE UniProtKB/Swiss-Prot
Superfamily-SCOP SSF51695 UniProtKB/Swiss-Prot
UniProt GDPD3_HUMAN UniProtKB/Swiss-Prot
  H3BMN9_HUMAN UniProtKB/TrEMBL
  H3BPX3_HUMAN UniProtKB/TrEMBL
  Q7L5L3 ENTREZGENE
  Q9H652 ENTREZGENE
UniProt Secondary Q9H652 UniProtKB/Swiss-Prot