TAOK2 (TAO kinase 2) - Rat Genome Database

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Gene: TAOK2 (TAO kinase 2) Homo sapiens
Analyze
Symbol: TAOK2
Name: TAO kinase 2
RGD ID: 1351729
HGNC Page HGNC:16835
Description: Enables mitogen-activated protein kinase kinase binding activity; neuropilin binding activity; and protein serine/threonine kinase activity. Involved in several processes, including focal adhesion assembly; intracellular signal transduction; and positive regulation of MAPK cascade. Located in cytoplasmic vesicle; cytosol; and nuclear lumen. Part of receptor complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: hKFC-C; KIAA0881; kinase from chicken homolog C; MAP3K17; prostate derived STE20-like kinase PSK; prostate-derived STE20-like kinase 1; prostate-derived sterile 20-like kinase 1; PSK; PSK-1; PSK1; PSK1-BETA; serine/threonine-protein kinase TAO2; TAO1; TAO2; Tao2beta; thousand and one amino acid protein 2; thousand and one amino acid protein kinase; thousand and one amino acid protein kinase 2
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
GRCh381629,973,868 - 29,992,261 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1629,973,868 - 29,992,261 (+)EnsemblGRCh38hg38GRCh38
GRCh371629,985,189 - 30,003,582 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361629,892,723 - 29,911,082 (+)NCBINCBI36Build 36hg18NCBI36
Build 341629,892,722 - 29,907,220NCBI
Celera1672,792,142 - 72,810,504 (-)NCBICelera
Cytogenetic Map16p11.2NCBI
HuRef1627,646,198 - 27,664,595 (+)NCBIHuRef
CHM1_11631,200,977 - 31,219,371 (+)NCBICHM1_1
T2T-CHM13v2.01630,256,503 - 30,274,899 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

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

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Mechanisms and functions of p38 MAPK signalling. Cuadrado A and Nebreda AR, Biochem J. 2010 Aug 1;429(3):403-17. doi: 10.1042/BJ20100323.
2. Isolation of TAO1, a protein kinase that activates MEKs in stress-activated protein kinase cascades. Hutchison M, etal., J Biol Chem 1998 Oct 30;273(44):28625-32.
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10048485   PMID:10497253   PMID:10660600   PMID:11279118   PMID:12421765   PMID:12477932   PMID:12639963   PMID:12665513   PMID:12975309   PMID:13679851   PMID:14702039   PMID:15146197  
PMID:15342556   PMID:16893890   PMID:17158878   PMID:17396146   PMID:18029348   PMID:19242545   PMID:21873635   PMID:22683681   PMID:23382219   PMID:23585562   PMID:24722188   PMID:25056061  
PMID:25241761   PMID:26186194   PMID:26496610   PMID:26972000   PMID:28319085   PMID:28386764   PMID:28514442   PMID:28830982   PMID:29162697   PMID:29509190   PMID:29844126   PMID:30381292  
PMID:30581152   PMID:31073040   PMID:31471107   PMID:31527615   PMID:31871319   PMID:32296183   PMID:32707033   PMID:33087821   PMID:33961781   PMID:34079125   PMID:34879262   PMID:35141166  
PMID:35271311   PMID:35748872   PMID:35944360   PMID:36244648   PMID:37813295   PMID:37931956  


Genomics

Comparative Map Data
TAOK2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381629,973,868 - 29,992,261 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1629,973,868 - 29,992,261 (+)EnsemblGRCh38hg38GRCh38
GRCh371629,985,189 - 30,003,582 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361629,892,723 - 29,911,082 (+)NCBINCBI36Build 36hg18NCBI36
Build 341629,892,722 - 29,907,220NCBI
Celera1672,792,142 - 72,810,504 (-)NCBICelera
Cytogenetic Map16p11.2NCBI
HuRef1627,646,198 - 27,664,595 (+)NCBIHuRef
CHM1_11631,200,977 - 31,219,371 (+)NCBICHM1_1
T2T-CHM13v2.01630,256,503 - 30,274,899 (+)NCBIT2T-CHM13v2.0
Taok2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397126,464,848 - 126,485,468 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7126,464,850 - 126,483,875 (-)EnsemblGRCm39 Ensembl
GRCm387126,865,674 - 126,886,296 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7126,865,678 - 126,884,703 (-)EnsemblGRCm38mm10GRCm38
MGSCv377134,009,191 - 134,028,481 (-)NCBIGRCm37MGSCv37mm9NCBIm37
Celera7126,713,815 - 126,733,105 (-)NCBICelera
Cytogenetic Map7F3NCBI
cM Map769.25NCBI
Taok2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81190,906,236 - 190,925,359 (-)NCBIGRCr8
mRatBN7.21181,475,708 - 181,494,738 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1181,475,711 - 181,494,613 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1189,830,945 - 189,845,358 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01197,017,020 - 197,031,433 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01189,684,241 - 189,698,650 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01198,301,789 - 198,354,601 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1198,301,938 - 198,320,075 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01205,281,965 - 205,302,445 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41186,049,010 - 186,063,423 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11186,198,900 - 186,213,304 (-)NCBI
Celera1179,134,902 - 179,149,315 (-)NCBICelera
Cytogenetic Map1q36NCBI
Taok2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554936,969,096 - 6,985,878 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554936,968,537 - 6,986,608 (-)NCBIChiLan1.0ChiLan1.0
TAOK2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21830,723,431 - 30,742,044 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11635,483,871 - 35,502,484 (-)NCBINHGRI_mPanPan1
PanPan1.11630,347,229 - 30,365,647 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1630,347,229 - 30,366,743 (+)Ensemblpanpan1.1panPan2
TAOK2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1618,014,685 - 18,029,188 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl618,000,138 - 18,029,185 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha619,587,820 - 19,606,168 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0618,144,778 - 18,163,340 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl618,092,584 - 18,163,339 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1617,944,193 - 17,962,549 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0617,859,369 - 17,877,699 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0618,175,174 - 18,193,525 (+)NCBIUU_Cfam_GSD_1.0
Taok2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344124,379,172 - 124,397,455 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493650112,477,032 - 12,495,501 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493650112,477,032 - 12,495,298 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TAOK2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl318,177,737 - 18,198,085 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1318,178,347 - 18,198,092 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
TAOK2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1526,669,687 - 26,688,418 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl526,669,702 - 26,688,389 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660682,844,898 - 2,863,744 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Taok2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478213,256,085 - 13,262,626 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla_female_1.0 EnsemblNW_00462478213,234,422 - 13,252,663 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478213,234,422 - 13,263,495 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TAOK2
632 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(chr16:29662635-30186020)x3 copy number gain See cases [RCV000054374] Chr16:29662635..30186020 [GRCh38]
Chr16:29673956..30197341 [GRCh37]
Chr16:29581457..30104842 [NCBI36]
Chr16:16p11.2		 pathogenic|likely pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29662433-30179388)x1 copy number loss See cases [RCV000054293] Chr16:29662433..30179388 [GRCh38]
Chr16:29673754..30190709 [GRCh37]
Chr16:29581255..30098210 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29662633-30187279)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054299]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054299]|See cases [RCV000054299] Chr16:29662633..30187279 [GRCh38]
Chr16:29673954..30198600 [GRCh37]
Chr16:16p11.2		 pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29662633-30187279)x1 copy number loss See cases [RCV000054300] Chr16:29662633..30187279 [GRCh38]
Chr16:29673954..30198600 [GRCh37]
Chr16:29581455..30106101 [NCBI36]
Chr16:16p11.2		 pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29662635-30187279)x3 copy number gain See cases [RCV000054302] Chr16:29662635..30187279 [GRCh38]
Chr16:29673956..30198600 [GRCh37]
Chr16:29581457..30106101 [NCBI36]
Chr16:16p11.2		 pathogenic|likely pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29662635-30187279)x1 copy number loss See cases [RCV000054303] Chr16:29662635..30187279 [GRCh38]
Chr16:29673956..30198600 [GRCh37]
Chr16:29581457..30106101 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29662635-30108438)x1 copy number loss See cases [RCV000054305] Chr16:29662635..30108438 [GRCh38]
Chr16:29673956..30119759 [GRCh37]
Chr16:29581457..30027260 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29663527-30183432)x1 copy number loss See cases [RCV000054307] Chr16:29663527..30183432 [GRCh38]
Chr16:29674848..30194753 [GRCh37]
Chr16:29582349..30102254 [NCBI36]
Chr16:16p11.2		 pathogenic
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
TAOK2:c.2232+1397C>T single nucleotide variant Malignant melanoma [RCV000071085] Chr16:29987901 [GRCh38]
Chr16:29999222 [GRCh37]
Chr16:29906723 [NCBI36]
Chr16:16p11.2		 not provided
GRCh37/hg19 16p11.2(chr16:29628661-30306955) copy number gain Chromosome 16p11.2 duplication syndrome [RCV002280688] Chr16:29628661..30306955 [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(chr16:29581462-30691912)x1 copy number loss See cases [RCV000135589] Chr16:29581462..30691912 [GRCh38]
Chr16:29592783..30703233 [GRCh37]
Chr16:29500284..30610734 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29581462-30321260)x3 copy number gain See cases [RCV000135445] Chr16:29581462..30321260 [GRCh38]
Chr16:29592783..30332581 [GRCh37]
Chr16:29500284..30240082 [NCBI36]
Chr16:16p11.2		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29662633-30186020)x1 copy number loss See cases [RCV000136137] Chr16:29662633..30186020 [GRCh38]
Chr16:29673954..30197341 [GRCh37]
Chr16:29581455..30104842 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29662646-30321248)x3 copy number gain See cases [RCV000135976] Chr16:29662646..30321248 [GRCh38]
Chr16:29673967..30332569 [GRCh37]
Chr16:29581468..30240070 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29318115-30179272)x3 copy number gain See cases [RCV000136065] Chr16:29318115..30179272 [GRCh38]
Chr16:29329436..30190593 [GRCh37]
Chr16:29236937..30098094 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29466738-30320693)x3 copy number gain See cases [RCV000137516] Chr16:29466738..30320693 [GRCh38]
Chr16:29478059..30332014 [GRCh37]
Chr16:29385560..30239515 [NCBI36]
Chr16:16p11.2		 likely pathogenic|conflicting data from submitters
GRCh38/hg38 16p12.1-11.2(chr16:28392832-30186020)x1 copy number loss See cases [RCV000137580] Chr16:28392832..30186020 [GRCh38]
Chr16:28404153..30197341 [GRCh37]
Chr16:28311654..30104842 [NCBI36]
Chr16:16p12.1-11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29645363-30321270)x3 copy number gain See cases [RCV000137446] Chr16:29645363..30321270 [GRCh38]
Chr16:29656684..30332591 [GRCh37]
Chr16:29564185..30240092 [NCBI36]
Chr16:16p11.2		 likely pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29427948-30320693)x3 copy number gain See cases [RCV000137618] Chr16:29427948..30320693 [GRCh38]
Chr16:29439269..30332014 [GRCh37]
Chr16:29346770..30239515 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29579233-30179247)x1 copy number loss See cases [RCV000138036] Chr16:29579233..30179247 [GRCh38]
Chr16:29590554..30190568 [GRCh37]
Chr16:29498055..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29579233-30179247)x3 copy number gain See cases [RCV000138032] Chr16:29579233..30179247 [GRCh38]
Chr16:29590554..30190568 [GRCh37]
Chr16:29498055..30098069 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29466738-30186020)x3 copy number gain See cases [RCV000138440] Chr16:29466738..30186020 [GRCh38]
Chr16:29478059..30197341 [GRCh37]
Chr16:29385560..30104842 [NCBI36]
Chr16:16p11.2		 likely pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29579233-30186020)x3 copy number gain See cases [RCV000138442] Chr16:29579233..30186020 [GRCh38]
Chr16:29590554..30197341 [GRCh37]
Chr16:29498055..30104842 [NCBI36]
Chr16:16p11.2		 pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29579233-30186020)x1 copy number loss See cases [RCV000138443] Chr16:29579233..30186020 [GRCh38]
Chr16:29590554..30197341 [GRCh37]
Chr16:29498055..30104842 [NCBI36]
Chr16:16p11.2		 pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29645363-30186020)x3 copy number gain See cases [RCV000138342] Chr16:29645363..30186020 [GRCh38]
Chr16:29656684..30197341 [GRCh37]
Chr16:29564185..30104842 [NCBI36]
Chr16:16p11.2		 likely pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29645363-30186020)x1 copy number loss See cases [RCV000138343] Chr16:29645363..30186020 [GRCh38]
Chr16:29656684..30197341 [GRCh37]
Chr16:29564185..30104842 [NCBI36]
Chr16:16p11.2		 pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29318115-30321248)x3 copy number gain See cases [RCV000138501] Chr16:29318115..30321248 [GRCh38]
Chr16:29329436..30332569 [GRCh37]
Chr16:29236937..30240070 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29581470-30179272)x1 copy number loss See cases [RCV000138508] Chr16:29581470..30179272 [GRCh38]
Chr16:29592791..30190593 [GRCh37]
Chr16:29500292..30098094 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29579233-30320693)x3 copy number gain See cases [RCV000139248] Chr16:29579233..30320693 [GRCh38]
Chr16:29590554..30332014 [GRCh37]
Chr16:29498055..30239515 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29579233-30320693)x1 copy number loss See cases [RCV000139249] Chr16:29579233..30320693 [GRCh38]
Chr16:29590554..30332014 [GRCh37]
Chr16:29498055..30239515 [NCBI36]
Chr16:16p11.2		 pathogenic|likely pathogenic
GRCh38/hg38 16p11.2(chr16:29466739-30321248)x3 copy number gain See cases [RCV000139095] Chr16:29466739..30321248 [GRCh38]
Chr16:29478060..30332569 [GRCh37]
Chr16:29385561..30240070 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29609368-30320693)x3 copy number gain See cases [RCV000139032] Chr16:29609368..30320693 [GRCh38]
Chr16:29620689..30332014 [GRCh37]
Chr16:29528190..30239515 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30308986)x1 copy number loss See cases [RCV000140452] Chr16:29555974..30308986 [GRCh38]
Chr16:29567295..30320307 [GRCh37]
Chr16:29474796..30227808 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29581462-30185969)x3 copy number gain See cases [RCV000140510] Chr16:29581462..30185969 [GRCh38]
Chr16:29592783..30197290 [GRCh37]
Chr16:29500284..30104791 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28392832-30320693)x1 copy number loss See cases [RCV000139916] Chr16:28392832..30320693 [GRCh38]
Chr16:28404153..30332014 [GRCh37]
Chr16:28311654..30239515 [NCBI36]
Chr16:16p12.1-11.2		 pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3 copy number gain See cases [RCV000140341] Chr16:27311746..31193406 [GRCh38]
Chr16:27323067..31204727 [GRCh37]
Chr16:27230568..31112228 [NCBI36]
Chr16:16p12.1-11.2		 pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3 copy number gain See cases [RCV000141141] Chr16:23752047..31943755 [GRCh38]
Chr16:23763368..31955076 [GRCh37]
Chr16:23670869..31862577 [NCBI36]
Chr16:16p12.2-11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29427948-30186020)x1 copy number loss See cases [RCV000141285] Chr16:29427948..30186020 [GRCh38]
Chr16:29439269..30197341 [GRCh37]
Chr16:29346770..30104842 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29609368-30185969)x1 copy number loss See cases [RCV000141120] Chr16:29609368..30185969 [GRCh38]
Chr16:29620689..30197290 [GRCh37]
Chr16:29528190..30104791 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30215609)x1 copy number loss See cases [RCV000140887] Chr16:29555974..30215609 [GRCh38]
Chr16:29567295..30226930 [GRCh37]
Chr16:29474796..30134431 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29568699-30166595)x1 copy number loss See cases [RCV000141992] Chr16:29568699..30166595 [GRCh38]
Chr16:29580020..30177916 [GRCh37]
Chr16:29487521..30085417 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29506377-30180527)x3 copy number gain See cases [RCV000141993] Chr16:29506377..30180527 [GRCh38]
Chr16:29517698..30191848 [GRCh37]
Chr16:29425199..30099349 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29568699-30295634)x3 copy number gain See cases [RCV000141947] Chr16:29568699..30295634 [GRCh38]
Chr16:29580020..30306955 [GRCh37]
Chr16:29487521..30214456 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29568699-30166678)x1 copy number loss See cases [RCV000141749] Chr16:29568699..30166678 [GRCh38]
Chr16:29580020..30177999 [GRCh37]
Chr16:29487521..30085500 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29569779-30228906)x3 copy number gain See cases [RCV000141682] Chr16:29569779..30228906 [GRCh38]
Chr16:29581100..30240227 [GRCh37]
Chr16:29488601..30147728 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30309999)x1 copy number loss See cases [RCV000141685] Chr16:29555974..30309999 [GRCh38]
Chr16:29567295..30321320 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29555975-30180527)x3 copy number gain See cases [RCV000142335] Chr16:29555975..30180527 [GRCh38]
Chr16:29567296..30191848 [GRCh37]
Chr16:29474797..30099349 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29662646-30179272)x1 copy number loss See cases [RCV000142500] Chr16:29662646..30179272 [GRCh38]
Chr16:29673967..30190593 [GRCh37]
Chr16:29581468..30098094 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29506377-30165919)x3 copy number gain See cases [RCV000142063] Chr16:29506377..30165919 [GRCh38]
Chr16:29517698..30177240 [GRCh37]
Chr16:29425199..30084741 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29513831-30206791)x1 copy number loss See cases [RCV000142087] Chr16:29513831..30206791 [GRCh38]
Chr16:29525152..30218112 [GRCh37]
Chr16:29432653..30125613 [NCBI36]
Chr16:16p11.2		 uncertain significance
GRCh38/hg38 16p11.2(chr16:29555974-30178708)x1 copy number loss See cases [RCV000142045] Chr16:29555974..30178708 [GRCh38]
Chr16:29567295..30190029 [GRCh37]
Chr16:29474796..30097530 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29682770-30186020)x3 copy number gain See cases [RCV000142875] Chr16:29682770..30186020 [GRCh38]
Chr16:29694091..30197341 [GRCh37]
Chr16:29601592..30104842 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29581470-30321248)x3 copy number gain See cases [RCV000142929] Chr16:29581470..30321248 [GRCh38]
Chr16:29592791..30332569 [GRCh37]
Chr16:29500292..30240070 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30166595)x1 copy number loss See cases [RCV000143363] Chr16:29555974..30166595 [GRCh38]
Chr16:29567295..30177916 [GRCh37]
Chr16:29474796..30085417 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29579757-30228906)x3 copy number gain See cases [RCV000143364] Chr16:29579757..30228906 [GRCh38]
Chr16:29591078..30240227 [GRCh37]
Chr16:29498579..30147728 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29892937-30433124)x3 copy number gain See cases [RCV000143385] Chr16:29892937..30433124 [GRCh38]
Chr16:29904258..30444445 [GRCh37]
Chr16:29811759..30351946 [NCBI36]
Chr16:16p11.2		 pathogenic|likely benign
GRCh38/hg38 16p11.2(chr16:29568699-30228906)x3 copy number gain See cases [RCV000143431] Chr16:29568699..30228906 [GRCh38]
Chr16:29580020..30240227 [GRCh37]
Chr16:29487521..30147728 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30309999)x3 copy number gain See cases [RCV000143386] Chr16:29555974..30309999 [GRCh38]
Chr16:29567295..30321320 [GRCh37]
Chr16:29474796..30228821 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29598613-30165919)x3 copy number gain See cases [RCV000143305] Chr16:29598613..30165919 [GRCh38]
Chr16:29609934..30177240 [GRCh37]
Chr16:29517435..30084741 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29420891-30166595)x1 copy number loss See cases [RCV000143228] Chr16:29420891..30166595 [GRCh38]
Chr16:29432212..30177916 [GRCh37]
Chr16:29339713..30085417 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30166486)x1 copy number loss See cases [RCV000143670] Chr16:29555974..30166486 [GRCh38]
Chr16:29567295..30177807 [GRCh37]
Chr16:29474796..30085308 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29627319-30165919)x3 copy number gain See cases [RCV000143581] Chr16:29627319..30165919 [GRCh38]
Chr16:29638640..30177240 [GRCh37]
Chr16:29546141..30084741 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30166678)x1 copy number loss See cases [RCV000143478] Chr16:29555974..30166678 [GRCh38]
Chr16:29567295..30177999 [GRCh37]
Chr16:29474796..30085500 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30167085)x1 copy number loss See cases [RCV000143457] Chr16:29555974..30167085 [GRCh38]
Chr16:29567295..30178406 [GRCh37]
Chr16:29474796..30085907 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29581462-30321260)x1 copy number loss See cases [RCV000148288] Chr16:29581462..30321260 [GRCh38]
Chr16:29592783..30332581 [GRCh37]
Chr16:29500284..30240082 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29662633-30179247)x1 copy number loss See cases [RCV000148134] Chr16:29662633..30179247 [GRCh38]
Chr16:29673954..30190568 [GRCh37]
Chr16:29581455..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29662633-30179247)x3 copy number gain See cases [RCV000148254]|See cases [RCV000509065] Chr16:29662633..30179247 [GRCh38]
Chr16:29673954..30190568 [GRCh37]
Chr16:29581455..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x1 copy number loss See cases [RCV000148148] Chr16:28492482..30179247 [GRCh38]
Chr16:28503803..30190568 [GRCh37]
Chr16:28411304..30098069 [NCBI36]
Chr16:16p12.1-11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29662633-30187279)x1 copy number loss See cases [RCV000148157] Chr16:29662633..30187279 [GRCh38]
Chr16:29673954..30198600 [GRCh37]
Chr16:29581455..30106101 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29170820-30179247)x3 copy number gain See cases [RCV000148119] Chr16:29170820..30179247 [GRCh38]
Chr16:29182141..30190568 [GRCh37]
Chr16:29089642..30098069 [NCBI36]
Chr16:16p11.2		 uncertain significance
GRCh38/hg38 16p11.2(chr16:29662633-30321260)x3 copy number gain See cases [RCV000148123] Chr16:29662633..30321260 [GRCh38]
Chr16:29673954..30332581 [GRCh37]
Chr16:29581455..30240082 [NCBI36]
Chr16:16p11.2		 uncertain significance
GRCh38/hg38 16p11.2(chr16:29227272-30179247)x3 copy number gain See cases [RCV000148125] Chr16:29227272..30179247 [GRCh38]
Chr16:29238593..30190568 [GRCh37]
Chr16:29146094..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29227272-30179247)x1 copy number loss See cases [RCV000148095] Chr16:29227272..30179247 [GRCh38]
Chr16:29238593..30190568 [GRCh37]
Chr16:29146094..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29581462-30179247)x3 copy number gain See cases [RCV000148096] Chr16:29581462..30179247 [GRCh38]
Chr16:29592783..30190568 [GRCh37]
Chr16:29500284..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29581462-30179247)x1 copy number loss See cases [RCV000148097] Chr16:29581462..30179247 [GRCh38]
Chr16:29592783..30190568 [GRCh37]
Chr16:29500284..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29060171-30197341)x3 copy number gain See cases [RCV000240123] Chr16:29060171..30197341 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29060171-30195607)x3 copy number gain See cases [RCV000239797] Chr16:29060171..30195607 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29841933-30381027)x3 copy number gain Breast ductal adenocarcinoma [RCV000207131] Chr16:29841933..30381027 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
NC_000016.10:g.(?_29506378)_(30180574_?)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(chr16:29432212-30177807)x1 copy number loss See cases [RCV002285052] Chr16:29432212..30177807 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29591078-30177916)x3 copy number gain See cases [RCV000449091] Chr16:29591078..30177916 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3 copy number gain See cases [RCV000449403] Chr16:19424115..30142220 [GRCh37]
Chr16:16p12.3-11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29580020-30177240)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
GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1 copy number loss See cases [RCV000448084] Chr16:28826162..29043901 [GRCh37]
Chr16:16p11.2		 likely 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(chr16:29624765-30197290)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(chr16:29591078-30302348)x3 copy number gain See cases [RCV000511723] Chr16:29591078..30302348 [GRCh37]
Chr16:16p11.2		 likely 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(chr16:29421694-30240227)x3 copy number gain See cases [RCV000511586] Chr16:29421694..30240227 [GRCh37]
Chr16:16p11.2		 likely pathogenic
GRCh37/hg19 16p11.2(chr16:29567296-30177807)x1 copy number loss See cases [RCV000511641] Chr16:29567296..30177807 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29580020-30177240)x3 copy number gain See cases [RCV000511833] Chr16:29580020..30177240 [GRCh37]
Chr16:16p11.2		 likely pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21596299-30399167)x1 copy number loss See cases [RCV000511271] Chr16:21596299..30399167 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29591078-30177240)x3 copy number gain See cases [RCV000511274] Chr16:29591078..30177240 [GRCh37]
Chr16:16p11.2		 likely pathogenic
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29567296-30178406)x1 copy number loss See cases [RCV000511288] Chr16:29567296..30178406 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29580020-30191848)x3 copy number gain See cases [RCV000511005] Chr16:29580020..30191848 [GRCh37]
Chr16:16p11.2		 likely pathogenic
GRCh37/hg19 16p11.2(chr16:29532264-30271237) copy number gain Chromosome 16p11.2 duplication syndrome [RCV000767611] Chr16:29532264..30271237 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29592783-30190568) copy number loss Obesity [RCV000626508] Chr16:29592783..30190568 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_016151.4(TAOK2):c.671C>T (p.Pro224Leu) single nucleotide variant not specified [RCV004311128] Chr16:29981676 [GRCh38]
Chr16:29992997 [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
GRCh37/hg19 16p11.2(chr16:29675050-30218384)x1 copy number loss not provided [RCV003312363] Chr16:29675050..30218384 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29656684-30197341) copy number gain Abnormality of the eye [RCV000626509] Chr16:29656684..30197341 [GRCh37]
Chr16:16p11.2		 likely pathogenic
GRCh37/hg19 16p11.2(chr16:29580610-30177240)x1 copy number loss See cases [RCV000512604] Chr16:29580610..30177240 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29567296-30177916)x1 copy number loss See cases [RCV000512297] Chr16:29567296..30177916 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29591078-30177807)x3 copy number gain See cases [RCV000512427] Chr16:29591078..30177807 [GRCh37]
Chr16:16p11.2		 likely pathogenic
GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3 copy number gain See cases [RCV000512428] Chr16:18238275..30177240 [GRCh37]
Chr16:16p12.3-11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29571474-30243606)x3 copy number gain See cases [RCV000512481] Chr16:29571474..30243606 [GRCh37]
Chr16:16p11.2		 likely pathogenic
GRCh37/hg19 16p11.2(chr16:29383808-30190029)x1 copy number loss not provided [RCV000683807] Chr16:29383808..30190029 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29432212-30191848)x1 copy number loss not provided [RCV000683808] Chr16:29432212..30191848 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29931036-30001162)x1 copy number loss not provided [RCV000683818] Chr16:29931036..30001162 [GRCh37]
Chr16:16p11.2		 uncertain significance
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(chr16:29351826-30332071)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(chr16:29580020-30178406)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 16p11.2(chr16:28466730-30191848)x1 copy number loss not provided [RCV000846340] Chr16:28466730..30191848 [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
NM_016151.4(TAOK2):c.2438A>G (p.Gln813Arg) single nucleotide variant not provided [RCV000899159] Chr16:29986710 [GRCh38]
Chr16:29998031 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1572G>A (p.Leu524=) single nucleotide variant TAOK2-related condition [RCV003972849]|not provided [RCV000965999] Chr16:29985362 [GRCh38]
Chr16:29996683 [GRCh37]
Chr16:16p11.2		 benign
NM_016151.4(TAOK2):c.3186T>C (p.Ala1062=) single nucleotide variant not provided [RCV000981173] Chr16:29987458 [GRCh38]
Chr16:29998779 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2529T>C (p.Pro843=) single nucleotide variant not provided [RCV000927306] Chr16:29986801 [GRCh38]
Chr16:29998122 [GRCh37]
Chr16:16p11.2		 likely benign
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(chr16:29595483-30198151)x1 copy number loss See cases [RCV000790564] Chr16:29595483..30198151 [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(chr16:29827174-30198041) copy number gain Chromosome 16p11.2 duplication syndrome [RCV000767618] Chr16:29827174..30198041 [GRCh37]
Chr16:16p11.2		 pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787396] Chr16:29656717..30158469 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_016151.4(TAOK2):c.900C>T (p.Ala300=) single nucleotide variant not provided [RCV000930693] Chr16:29982802 [GRCh38]
Chr16:29994123 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2640T>C (p.Leu880=) single nucleotide variant not provided [RCV000919831] Chr16:29986912 [GRCh38]
Chr16:29998233 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3621C>T (p.Pro1207=) single nucleotide variant not provided [RCV000901848] Chr16:29987893 [GRCh38]
Chr16:29999214 [GRCh37]
Chr16:16p11.2		 benign
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(chr16:29673203-30133233) copy number loss Proximal 16p11.2 microdeletion syndrome [RCV000767613] Chr16:29673203..30133233 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29678569-30199578) copy number gain Chromosome 16p11.2 duplication syndrome [RCV000767615] Chr16:29678569..30199578 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_016151.4(TAOK2):c.2394G>A (p.Glu798=) single nucleotide variant not provided [RCV000921927] Chr16:29986666 [GRCh38]
Chr16:29997987 [GRCh37]
Chr16:16p11.2		 likely benign
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(chr16:29580020-30177916) copy number loss Proximal 16p11.2 microdeletion syndrome [RCV002280642] Chr16:29580020..30177916 [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
Single allele deletion Neurodevelopmental disorder [RCV000787384] Chr16:29656657..30158469 [GRCh37]
Chr16:16p11.2		 likely pathogenic
Single allele duplication Neurodevelopmental disorder [RCV000787386] Chr16:29526295..30106669 [GRCh37]
Chr16:16p11.2		 likely 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(chr16:29495011-30206548) copy number loss Infantile convulsions and choreoathetosis [RCV003236744] Chr16:29495011..30206548 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_016151.4(TAOK2):c.1140GGA[8] (p.Glu392_Gly393insGluGlu) microsatellite not provided [RCV003104995] Chr16:29983209..29983210 [GRCh38]
Chr16:29994530..29994531 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1907G>A (p.Arg636His) single nucleotide variant not provided [RCV003106653] Chr16:29985776 [GRCh38]
Chr16:29997097 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3248G>A (p.Arg1083Gln) single nucleotide variant not specified [RCV004292016] Chr16:29987520 [GRCh38]
Chr16:29998841 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:29565626-30221925)x1 copy number loss See cases [RCV001564036] Chr16:29565626..30221925 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_016151.4(TAOK2):c.45G>A (p.Val15=) single nucleotide variant not provided [RCV000894264] Chr16:29977817 [GRCh38]
Chr16:29989138 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3677G>A (p.Arg1226His) single nucleotide variant TAOK2-related condition [RCV003930545]|not provided [RCV000881590] Chr16:29987949 [GRCh38]
Chr16:29999270 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1140GGA[5] (p.Glu392del) microsatellite TAOK2-related condition [RCV003978249]|not provided [RCV000953357] Chr16:29983210..29983212 [GRCh38]
Chr16:29994531..29994533 [GRCh37]
Chr16:16p11.2		 pathogenic|likely benign
NM_016151.4(TAOK2):c.276G>A (p.Arg92=) single nucleotide variant not provided [RCV000887048] Chr16:29978323 [GRCh38]
Chr16:29989644 [GRCh37]
Chr16:16p11.2		 benign
NM_016151.4(TAOK2):c.3327G>A (p.Arg1109=) single nucleotide variant not provided [RCV000898906] Chr16:29987599 [GRCh38]
Chr16:29998920 [GRCh37]
Chr16:16p11.2		 benign
NM_016151.4(TAOK2):c.1479C>T (p.Ser493=) single nucleotide variant TAOK2-related condition [RCV003930522]|not provided [RCV000880679] Chr16:29985269 [GRCh38]
Chr16:29996590 [GRCh37]
Chr16:16p11.2		 benign
NM_016151.4(TAOK2):c.2462C>T (p.Ser821Leu) single nucleotide variant not provided [RCV000943535] Chr16:29986734 [GRCh38]
Chr16:29998055 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.180C>T (p.Ser60=) single nucleotide variant not provided [RCV000911160] Chr16:29978136 [GRCh38]
Chr16:29989457 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2332C>T (p.Pro778Ser) single nucleotide variant not provided [RCV000957402] Chr16:29986604 [GRCh38]
Chr16:29997925 [GRCh37]
Chr16:16p11.2		 benign
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(chr16:29567296-30240227)x1 copy number loss not provided [RCV002473793] Chr16:29567296..30240227 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29567296-30240227)x3 copy number gain not provided [RCV002473789] Chr16:29567296..30240227 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:28466730-30178406)x1 copy number loss not provided [RCV001006789] Chr16:28466730..30178406 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29595483-30215621)x1 copy number loss See cases [RCV001194595] Chr16:29595483..30215621 [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
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(chr16:28488319-30178406)x1 copy number loss not provided [RCV001258616] Chr16:28488319..30178406 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29383808-30177240)x3 copy number gain not provided [RCV001258617] Chr16:29383808..30177240 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29580020-30177999) copy number loss Proximal 16p11.2 microdeletion syndrome [RCV002280630] Chr16:29580020..30177999 [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(chr16:29592797-30190593)x3 copy number gain See cases [RCV001263060] Chr16:29592797..30190593 [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 16p13.3-11.2(chr16:2959279-30190593)x3 copy number gain See cases [RCV001263169] Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic|likely pathogenic
GRCh37/hg19 16p11.2(chr16:29448001-30302100) copy number gain See cases [RCV001263033] Chr16:29448001..30302100 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_016151.4(TAOK2):c.3616G>A (p.Gly1206Arg) single nucleotide variant not provided [RCV001310055] Chr16:29987888 [GRCh38]
Chr16:29999209 [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
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(chr16:29673954-30198600) copy number gain Autism [RCV001291991] Chr16:29673954..30198600 [GRCh37]
Chr16:16p11.2		 pathogenic
NC_000016.9:g.(?_29802081)_(30200285_?)dup duplication Episodic kinesigenic dyskinesia [RCV001325791] Chr16:29802081..30200285 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3385G>A (p.Val1129Ile) single nucleotide variant TAOK2-related condition [RCV003920918]|not provided [RCV001422014]|not specified [RCV004038198] Chr16:29987657 [GRCh38]
Chr16:29998978 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1874C>T (p.Ala625Val) single nucleotide variant not provided [RCV001397104] Chr16:29985743 [GRCh38]
Chr16:29997064 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3643C>T (p.Pro1215Ser) single nucleotide variant not provided [RCV001351803] Chr16:29987915 [GRCh38]
Chr16:29999236 [GRCh37]
Chr16:16p11.2		 uncertain significance
NC_000016.9:g.(?_29802081)_(30199917_?)dup duplication Episodic kinesigenic dyskinesia [RCV003120586]|HNSHA due to aldolase A deficiency [RCV001373865]|Severe combined immunodeficiency due to CORO1A deficiency [RCV001865862] Chr16:29802081..30199917 [GRCh37]
Chr16:16p11.2		 uncertain significance
NC_000016.9:g.(?_29802081)_(30199917_?)del deletion Episodic kinesigenic dyskinesia [RCV003120582]|HNSHA due to aldolase A deficiency [RCV001865861]|Severe combined immunodeficiency due to CORO1A deficiency [RCV001388031]|not provided [RCV001362947] Chr16:29802081..30199917 [GRCh37]
Chr16:16p11.2		 pathogenic|uncertain significance|no classifications from unflagged records
NM_016151.4(TAOK2):c.1146GGAGGAGGAGGAAGA[3] (p.Glu388_Glu392dup) microsatellite not provided [RCV001323067] Chr16:29983215..29983216 [GRCh38]
Chr16:29994536..29994537 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2732T>C (p.Ile911Thr) single nucleotide variant not provided [RCV001326753]|not specified [RCV004035217] Chr16:29987004 [GRCh38]
Chr16:29998325 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.450G>A (p.Arg150=) single nucleotide variant not provided [RCV001344258] Chr16:29979195 [GRCh38]
Chr16:29990516 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2422A>C (p.Thr808Pro) single nucleotide variant not provided [RCV001352268] Chr16:29986694 [GRCh38]
Chr16:29998015 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:29652999-30197341) copy number gain Severe sensorineural hearing impairment [RCV001291951] Chr16:29652999..30197341 [GRCh37]
Chr16:16p11.2		 pathogenic
Single allele deletion Proximal 16p11.2 microdeletion syndrome [RCV001391671] Chr16:29675044..30212202 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_016151.4(TAOK2):c.123C>T (p.Ala41=) single nucleotide variant not provided [RCV001519289] Chr16:29977895 [GRCh38]
Chr16:29989216 [GRCh37]
Chr16:16p11.2		 benign
NM_016151.4(TAOK2):c.1863G>A (p.Gln621=) single nucleotide variant not provided [RCV001505433] Chr16:29985732 [GRCh38]
Chr16:29997053 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1000-4G>A single nucleotide variant not provided [RCV001402257] Chr16:29983068 [GRCh38]
Chr16:29994389 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1182T>C (p.Pro394=) single nucleotide variant not provided [RCV001451912] Chr16:29983254 [GRCh38]
Chr16:29994575 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2418G>A (p.Gly806=) single nucleotide variant not provided [RCV001423417] Chr16:29986690 [GRCh38]
Chr16:29998011 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1005C>T (p.Ala335=) single nucleotide variant not provided [RCV001522499] Chr16:29983077 [GRCh38]
Chr16:29994398 [GRCh37]
Chr16:16p11.2		 benign
NM_016151.4(TAOK2):c.1551G>A (p.Arg517=) single nucleotide variant not provided [RCV001474627] Chr16:29985341 [GRCh38]
Chr16:29996662 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3127C>T (p.Leu1043=) single nucleotide variant not provided [RCV001505046] Chr16:29987399 [GRCh38]
Chr16:29998720 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.853C>A (p.Arg285=) single nucleotide variant not provided [RCV001409264] Chr16:29982755 [GRCh38]
Chr16:29994076 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.258C>T (p.Pro86=) single nucleotide variant not provided [RCV001427168] Chr16:29978305 [GRCh38]
Chr16:29989626 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3256T>C (p.Leu1086=) single nucleotide variant not provided [RCV001440702] Chr16:29987528 [GRCh38]
Chr16:29998849 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2586T>G (p.Val862=) single nucleotide variant not provided [RCV001498739] Chr16:29986858 [GRCh38]
Chr16:29998179 [GRCh37]
Chr16:16p11.2		 likely benign
GRCh37/hg19 16p11.2(chr16:29675050-30200008)x1 copy number loss not provided [RCV001532338] Chr16:29675050..30200008 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_016151.4(TAOK2):c.300G>A (p.Thr100=) single nucleotide variant not provided [RCV001468663] Chr16:29978347 [GRCh38]
Chr16:29989668 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.251G>A (p.Arg84Gln) single nucleotide variant not provided [RCV001458675] Chr16:29978298 [GRCh38]
Chr16:29989619 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2877G>C (p.Val959=) single nucleotide variant not provided [RCV001521054] Chr16:29987149 [GRCh38]
Chr16:29998470 [GRCh37]
Chr16:16p11.2		 benign
NM_016151.4(TAOK2):c.1809C>T (p.Ser603=) single nucleotide variant not provided [RCV001460172] Chr16:29985678 [GRCh38]
Chr16:29996999 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.749+11A>G single nucleotide variant not provided [RCV001516342] Chr16:29981765 [GRCh38]
Chr16:29993086 [GRCh37]
Chr16:16p11.2		 benign
GRCh37/hg19 16p11.2(chr16:29545794-30307472)x1 copy number loss See cases [RCV001526481] Chr16:29545794..30307472 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_016151.4(TAOK2):c.2607A>G (p.Thr869=) single nucleotide variant TAOK2-related condition [RCV003980632]|not provided [RCV001523068] Chr16:29986879 [GRCh38]
Chr16:29998200 [GRCh37]
Chr16:16p11.2		 benign
NM_016151.4(TAOK2):c.307-11C>T single nucleotide variant not provided [RCV001523105] Chr16:29978788 [GRCh38]
Chr16:29990109 [GRCh37]
Chr16:16p11.2		 benign
NM_016151.4(TAOK2):c.3384C>T (p.Pro1128=) single nucleotide variant not provided [RCV001477579] Chr16:29987656 [GRCh38]
Chr16:29998977 [GRCh37]
Chr16:16p11.2		 likely benign
NC_000016.9:g.(?_29802081)_(30200285_?)del deletion Episodic kinesigenic dyskinesia [RCV001388947] Chr16:29802081..30200285 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_016151.4(TAOK2):c.1359C>T (p.Ser453=) single nucleotide variant TAOK2-related condition [RCV003980556]|not provided [RCV001517257] Chr16:29983601 [GRCh38]
Chr16:29994922 [GRCh37]
Chr16:16p11.2		 benign
NM_016151.4(TAOK2):c.3632G>A (p.Arg1211His) single nucleotide variant TAOK2-related condition [RCV003980557]|not provided [RCV001517258] Chr16:29987904 [GRCh38]
Chr16:29999225 [GRCh37]
Chr16:16p11.2		 benign
NM_016151.4(TAOK2):c.1131C>T (p.Asn377=) single nucleotide variant TAOK2-related condition [RCV003931086]|not provided [RCV001515187] Chr16:29983203 [GRCh38]
Chr16:29994524 [GRCh37]
Chr16:16p11.2		 benign|likely benign
NM_016151.4(TAOK2):c.3030G>A (p.Leu1010=) single nucleotide variant not provided [RCV001472392] Chr16:29987302 [GRCh38]
Chr16:29998623 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3561G>A (p.Arg1187=) single nucleotide variant not provided [RCV003107299] Chr16:29987833 [GRCh38]
Chr16:29999154 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2108C>T (p.Ala703Val) single nucleotide variant not provided [RCV003104451] Chr16:29986380 [GRCh38]
Chr16:29997701 [GRCh37]
Chr16:16p11.2		 uncertain significance
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(chr16:29974415-30596982)x1 copy number loss Distal 16p11.2 microdeletion syndrome [RCV001801174] Chr16:29974415..30596982 [GRCh37]
Chr16:16p11.2		 likely pathogenic
GRCh37/hg19 16p11.2(chr16:29511270-30199844)x1 copy number loss Distal 16p11.2 microdeletion syndrome [RCV001801199] Chr16:29511270..30199844 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29590554-30197341)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(chr16:29675000-30200058)x3 copy number gain 16p11.2p12.2 microduplication syndrome [RCV001801208] Chr16:29675000..30200058 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29808153-30750270)x3 copy number gain Chromosome 16p11.2 duplication syndrome [RCV001801218] Chr16:29808153..30750270 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29511270-30200335)x1 copy number loss Distal 16p11.2 microdeletion syndrome [RCV001801183] Chr16:29511270..30200335 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29464904-30233799)x3 copy number gain Distal 16p11.2 microdeletion syndrome [RCV001801184] Chr16:29464904..30233799 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_016151.4(TAOK2):c.3227G>A (p.Arg1076Gln) single nucleotide variant not provided [RCV001907701] Chr16:29987499 [GRCh38]
Chr16:29998820 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1340C>G (p.Pro447Arg) single nucleotide variant not provided [RCV001907912] Chr16:29983582 [GRCh38]
Chr16:29994903 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3241A>G (p.Ile1081Val) single nucleotide variant not provided [RCV001907757] Chr16:29987513 [GRCh38]
Chr16:29998834 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.524T>A (p.Ile175Asn) single nucleotide variant not provided [RCV002003703] Chr16:29979269 [GRCh38]
Chr16:29990590 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2907GCT[7] (p.Leu973_Leu974dup) microsatellite not provided [RCV001986968] Chr16:29987176..29987177 [GRCh38]
Chr16:29998497..29998498 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2327G>C (p.Cys776Ser) single nucleotide variant not provided [RCV001863987] Chr16:29986599 [GRCh38]
Chr16:29997920 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2198C>T (p.Ala733Val) single nucleotide variant not provided [RCV001929974] Chr16:29986470 [GRCh38]
Chr16:29997791 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.16C>T (p.Arg6Trp) single nucleotide variant not provided [RCV001911149] Chr16:29977788 [GRCh38]
Chr16:29989109 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1363C>T (p.Arg455Cys) single nucleotide variant not provided [RCV001864011] Chr16:29983605 [GRCh38]
Chr16:29994926 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2240C>T (p.Ala747Val) single nucleotide variant not provided [RCV001964517]|not specified [RCV004040421] Chr16:29986512 [GRCh38]
Chr16:29997833 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1147G>A (p.Glu383Lys) single nucleotide variant not provided [RCV002045362] Chr16:29983219 [GRCh38]
Chr16:29994540 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2422A>G (p.Thr808Ala) single nucleotide variant not provided [RCV002044778] Chr16:29986694 [GRCh38]
Chr16:29998015 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1102G>A (p.Val368Ile) single nucleotide variant not provided [RCV002044818]|not specified [RCV004038903] Chr16:29983174 [GRCh38]
Chr16:29994495 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2750C>T (p.Pro917Leu) single nucleotide variant not provided [RCV002005166] Chr16:29987022 [GRCh38]
Chr16:29998343 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:29567295-30177916) copy number loss Rokitansky sequence [RCV002280626] Chr16:29567295..30177916 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_016151.4(TAOK2):c.1155_1172dup (p.Glu387_Glu392dup) duplication not provided [RCV001948357] Chr16:29983212..29983213 [GRCh38]
Chr16:29994533..29994534 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1140GGA[7] (p.Glu392dup) microsatellite not provided [RCV001914791] Chr16:29983209..29983210 [GRCh38]
Chr16:29994530..29994531 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.836G>A (p.Arg279His) single nucleotide variant not provided [RCV001986623] Chr16:29982738 [GRCh38]
Chr16:29994059 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3243A>G (p.Ile1081Met) single nucleotide variant not provided [RCV001927837] Chr16:29987515 [GRCh38]
Chr16:29998836 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3377G>A (p.Arg1126His) single nucleotide variant not provided [RCV001929126]|not specified [RCV004044211] Chr16:29987649 [GRCh38]
Chr16:29998970 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3076C>G (p.Leu1026Val) single nucleotide variant not provided [RCV001950502] Chr16:29987348 [GRCh38]
Chr16:29998669 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1942C>T (p.Arg648Cys) single nucleotide variant not provided [RCV001967533] Chr16:29985811 [GRCh38]
Chr16:29997132 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1285C>T (p.Pro429Ser) single nucleotide variant not provided [RCV001909715]|not specified [RCV004042764] Chr16:29983527 [GRCh38]
Chr16:29994848 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.411G>A (p.Gln137=) single nucleotide variant not provided [RCV001947315] Chr16:29979032 [GRCh38]
Chr16:29990353 [GRCh37]
Chr16:16p11.2		 likely benign|uncertain significance
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
NM_016151.4(TAOK2):c.607G>A (p.Asp203Asn) single nucleotide variant not provided [RCV002024052] Chr16:29979460 [GRCh38]
Chr16:29990781 [GRCh37]
Chr16:16p11.2		 uncertain significance
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
NM_016151.4(TAOK2):c.2098C>T (p.Arg700Cys) single nucleotide variant not provided [RCV001912715] Chr16:29986370 [GRCh38]
Chr16:29997691 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.23G>C (p.Gly8Ala) single nucleotide variant not provided [RCV001983294] Chr16:29977795 [GRCh38]
Chr16:29989116 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1612G>C (p.Glu538Gln) single nucleotide variant not provided [RCV002041800] Chr16:29985402 [GRCh38]
Chr16:29996723 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2543A>C (p.Glu848Ala) single nucleotide variant not provided [RCV002044339] Chr16:29986815 [GRCh38]
Chr16:29998136 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.200A>G (p.Asn67Ser) single nucleotide variant not provided [RCV001926694] Chr16:29978156 [GRCh38]
Chr16:29989477 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3398G>A (p.Arg1133Gln) single nucleotide variant not provided [RCV001914098]|not specified [RCV004044049] Chr16:29987670 [GRCh38]
Chr16:29998991 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.449+6A>G single nucleotide variant not provided [RCV001908531] Chr16:29979076 [GRCh38]
Chr16:29990397 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.449+4C>A single nucleotide variant not provided [RCV002044125] Chr16:29979074 [GRCh38]
Chr16:29990395 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3293G>A (p.Arg1098Gln) single nucleotide variant not provided [RCV001986876]|not specified [RCV004045427] Chr16:29987565 [GRCh38]
Chr16:29998886 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3694C>A (p.Pro1232Thr) single nucleotide variant not provided [RCV002003241] Chr16:29987966 [GRCh38]
Chr16:29999287 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1422+6T>C single nucleotide variant not provided [RCV001967479] Chr16:29983670 [GRCh38]
Chr16:29994991 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2860G>A (p.Gly954Ser) single nucleotide variant not provided [RCV001912478] Chr16:29987132 [GRCh38]
Chr16:29998453 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3662G>A (p.Arg1221Gln) single nucleotide variant not provided [RCV002021979] Chr16:29987934 [GRCh38]
Chr16:29999255 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1898G>A (p.Arg633Gln) single nucleotide variant not provided [RCV001968238] Chr16:29985767 [GRCh38]
Chr16:29997088 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1763A>G (p.Lys588Arg) single nucleotide variant not provided [RCV002023320] Chr16:29985553 [GRCh38]
Chr16:29996874 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1987C>T (p.Arg663Trp) single nucleotide variant not provided [RCV002043433] Chr16:29985856 [GRCh38]
Chr16:29997177 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:29678569-30198121)x1 copy number loss not provided [RCV001825159] Chr16:29678569..30198121 [GRCh37]
Chr16:16p11.2		 not provided
NM_016151.4(TAOK2):c.3500G>A (p.Gly1167Asp) single nucleotide variant not provided [RCV001942633] Chr16:29987772 [GRCh38]
Chr16:29999093 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3454G>T (p.Val1152Phe) single nucleotide variant not provided [RCV001887201] Chr16:29987726 [GRCh38]
Chr16:29999047 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1060G>C (p.Val354Leu) single nucleotide variant not provided [RCV001980497]|not specified [RCV004045283] Chr16:29983132 [GRCh38]
Chr16:29994453 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2339A>G (p.Gln780Arg) single nucleotide variant not provided [RCV002028336] Chr16:29986611 [GRCh38]
Chr16:29997932 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1975C>G (p.Gln659Glu) single nucleotide variant not provided [RCV001938487] Chr16:29985844 [GRCh38]
Chr16:29997165 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2492A>G (p.His831Arg) single nucleotide variant not provided [RCV001997892] Chr16:29986764 [GRCh38]
Chr16:29998085 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3577C>T (p.Arg1193Ter) single nucleotide variant not provided [RCV001978593] Chr16:29987849 [GRCh38]
Chr16:29999170 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2171G>T (p.Arg724Leu) single nucleotide variant not provided [RCV001944086] Chr16:29986443 [GRCh38]
Chr16:29997764 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3214C>G (p.Gln1072Glu) single nucleotide variant not provided [RCV001944119] Chr16:29987486 [GRCh38]
Chr16:29998807 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3578G>A (p.Arg1193Gln) single nucleotide variant not provided [RCV002047176] Chr16:29987850 [GRCh38]
Chr16:29999171 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3107G>A (p.Arg1036Gln) single nucleotide variant not provided [RCV001917038] Chr16:29987379 [GRCh38]
Chr16:29998700 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2232A>G (p.Lys744=) single nucleotide variant not provided [RCV001888275] Chr16:29986504 [GRCh38]
Chr16:29997825 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.542C>A (p.Ser181Tyr) single nucleotide variant not provided [RCV001996678] Chr16:29979287 [GRCh38]
Chr16:29990608 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3568C>T (p.Arg1190Trp) single nucleotide variant not provided [RCV001888795] Chr16:29987840 [GRCh38]
Chr16:29999161 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3170C>T (p.Ala1057Val) single nucleotide variant not provided [RCV001901405] Chr16:29987442 [GRCh38]
Chr16:29998763 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1916T>C (p.Phe639Ser) single nucleotide variant not provided [RCV001883448] Chr16:29985785 [GRCh38]
Chr16:29997106 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2811dup (p.Cys938fs) duplication not provided [RCV002020208] Chr16:29987080..29987081 [GRCh38]
Chr16:29998401..29998402 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1592A>G (p.Gln531Arg) single nucleotide variant not provided [RCV002035828] Chr16:29985382 [GRCh38]
Chr16:29996703 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1161GGA[3] (p.Glu392del) microsatellite not provided [RCV001887602] Chr16:29983231..29983233 [GRCh38]
Chr16:29994552..29994554 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.742G>A (p.Gly248Arg) single nucleotide variant not provided [RCV001995516] Chr16:29981747 [GRCh38]
Chr16:29993068 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3196G>C (p.Gly1066Arg) single nucleotide variant not provided [RCV002014385] Chr16:29987468 [GRCh38]
Chr16:29998789 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3442G>A (p.Ala1148Thr) single nucleotide variant not provided [RCV002011813] Chr16:29987714 [GRCh38]
Chr16:29999035 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.205-7C>G single nucleotide variant not provided [RCV002049627] Chr16:29978245 [GRCh38]
Chr16:29989566 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2120G>T (p.Arg707Leu) single nucleotide variant not provided [RCV001881679] Chr16:29986392 [GRCh38]
Chr16:29997713 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2249G>A (p.Arg750His) single nucleotide variant not provided [RCV002032156] Chr16:29986521 [GRCh38]
Chr16:29997842 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1346C>G (p.Ser449Cys) single nucleotide variant not provided [RCV001995755] Chr16:29983588 [GRCh38]
Chr16:29994909 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.831+8C>T single nucleotide variant not provided [RCV001880648] Chr16:29981948 [GRCh38]
Chr16:29993269 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1212G>C (p.Glu404Asp) single nucleotide variant not provided [RCV001937151] Chr16:29983284 [GRCh38]
Chr16:29994605 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.547G>A (p.Val183Met) single nucleotide variant not provided [RCV002009488] Chr16:29979292 [GRCh38]
Chr16:29990613 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1557G>T (p.Glu519Asp) single nucleotide variant not provided [RCV002045931] Chr16:29985347 [GRCh38]
Chr16:29996668 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2136G>A (p.Thr712=) single nucleotide variant not provided [RCV001953428] Chr16:29986408 [GRCh38]
Chr16:29997729 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3676C>T (p.Arg1226Cys) single nucleotide variant not provided [RCV001974466]|not specified [RCV004042921] Chr16:29987948 [GRCh38]
Chr16:29999269 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3394C>T (p.Pro1132Ser) single nucleotide variant not provided [RCV001875172] Chr16:29987666 [GRCh38]
Chr16:29998987 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3302A>G (p.Gln1101Arg) single nucleotide variant not provided [RCV001879505]|not specified [RCV004040649] Chr16:29987574 [GRCh38]
Chr16:29998895 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.701T>C (p.Leu234Ser) single nucleotide variant not provided [RCV001935514] Chr16:29981706 [GRCh38]
Chr16:29993027 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2304C>T (p.Gly768=) single nucleotide variant not provided [RCV001994156] Chr16:29986576 [GRCh38]
Chr16:29997897 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1201A>G (p.Met401Val) single nucleotide variant not provided [RCV001930453]|not specified [RCV004043434] Chr16:29983273 [GRCh38]
Chr16:29994594 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1322C>T (p.Pro441Leu) single nucleotide variant TAOK2-related condition [RCV003892963]|not provided [RCV001921513] Chr16:29983564 [GRCh38]
Chr16:29994885 [GRCh37]
Chr16:16p11.2		 likely benign|uncertain significance
NM_016151.4(TAOK2):c.494T>C (p.Val165Ala) single nucleotide variant not provided [RCV002027630] Chr16:29979239 [GRCh38]
Chr16:29990560 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2102C>T (p.Thr701Met) single nucleotide variant not provided [RCV001877033] Chr16:29986374 [GRCh38]
Chr16:29997695 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2062C>T (p.Arg688Trp) single nucleotide variant not provided [RCV001902847] Chr16:29986334 [GRCh38]
Chr16:29997655 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3587G>A (p.Arg1196Gln) single nucleotide variant not provided [RCV001936740] Chr16:29987859 [GRCh38]
Chr16:29999180 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2963C>T (p.Ala988Val) single nucleotide variant not provided [RCV001957989]|not specified [RCV004043049] Chr16:29987235 [GRCh38]
Chr16:29998556 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1664G>A (p.Arg555Gln) single nucleotide variant not provided [RCV001897453] Chr16:29985454 [GRCh38]
Chr16:29996775 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1615G>T (p.Ala539Ser) single nucleotide variant not provided [RCV001865171] Chr16:29985405 [GRCh38]
Chr16:29996726 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3200dup (p.Arg1068fs) duplication not provided [RCV001897474] Chr16:29987466..29987467 [GRCh38]
Chr16:29998787..29998788 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2561T>G (p.Leu854Arg) single nucleotide variant not provided [RCV002011333] Chr16:29986833 [GRCh38]
Chr16:29998154 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2773G>A (p.Asp925Asn) single nucleotide variant not provided [RCV001901351] Chr16:29987045 [GRCh38]
Chr16:29998366 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1075A>G (p.Ile359Val) single nucleotide variant not provided [RCV002015403] Chr16:29983147 [GRCh38]
Chr16:29994468 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2236C>T (p.Arg746Cys) single nucleotide variant not provided [RCV001976254] Chr16:29986508 [GRCh38]
Chr16:29997829 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2078G>A (p.Arg693Gln) single nucleotide variant not provided [RCV001958122]|not specified [RCV002469435] Chr16:29986350 [GRCh38]
Chr16:29997671 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2506G>A (p.Asp836Asn) single nucleotide variant not provided [RCV002014135]|not specified [RCV004046683] Chr16:29986778 [GRCh38]
Chr16:29998099 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.974G>C (p.Gly325Ala) single nucleotide variant not provided [RCV002034909] Chr16:29982876 [GRCh38]
Chr16:29994197 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2824C>A (p.Gln942Lys) single nucleotide variant not provided [RCV001981136] Chr16:29987096 [GRCh38]
Chr16:29998417 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1844G>A (p.Arg615Gln) single nucleotide variant not provided [RCV001960866] Chr16:29985713 [GRCh38]
Chr16:29997034 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3404G>A (p.Arg1135His) single nucleotide variant not provided [RCV001931091] Chr16:29987676 [GRCh38]
Chr16:29998997 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2237G>A (p.Arg746His) single nucleotide variant not provided [RCV001867195] Chr16:29986509 [GRCh38]
Chr16:29997830 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1140GGA[2] (p.Glu389_Glu392del) microsatellite not provided [RCV002010389] Chr16:29983210..29983221 [GRCh38]
Chr16:29994531..29994542 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3567A>G (p.Glu1189=) single nucleotide variant not provided [RCV001901795] Chr16:29987839 [GRCh38]
Chr16:29999160 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1769G>T (p.Arg590Leu) single nucleotide variant not provided [RCV001899451] Chr16:29985559 [GRCh38]
Chr16:29996880 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1022G>A (p.Arg341Gln) single nucleotide variant not provided [RCV002031232] Chr16:29983094 [GRCh38]
Chr16:29994415 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1190G>A (p.Arg397Gln) single nucleotide variant not provided [RCV001988910] Chr16:29983262 [GRCh38]
Chr16:29994583 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3233G>A (p.Arg1078His) single nucleotide variant not provided [RCV002047313] Chr16:29987505 [GRCh38]
Chr16:29998826 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2476C>T (p.Pro826Ser) single nucleotide variant not provided [RCV002012224] Chr16:29986748 [GRCh38]
Chr16:29998069 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3415A>G (p.Thr1139Ala) single nucleotide variant not provided [RCV001918578] Chr16:29987687 [GRCh38]
Chr16:29999008 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3586C>T (p.Arg1196Trp) single nucleotide variant not provided [RCV001878279]|not specified [RCV004039612] Chr16:29987858 [GRCh38]
Chr16:29999179 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1004C>T (p.Ala335Val) single nucleotide variant not provided [RCV001936597] Chr16:29983076 [GRCh38]
Chr16:29994397 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.793A>T (p.Ile265Phe) single nucleotide variant not provided [RCV001981549] Chr16:29981902 [GRCh38]
Chr16:29993223 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.94C>T (p.Arg32Trp) single nucleotide variant not provided [RCV001957305] Chr16:29977866 [GRCh38]
Chr16:29989187 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3260G>C (p.Arg1087Pro) single nucleotide variant not provided [RCV002029178] Chr16:29987532 [GRCh38]
Chr16:29998853 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1901G>A (p.Arg634Gln) single nucleotide variant not provided [RCV001916219] Chr16:29985770 [GRCh38]
Chr16:29997091 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3671G>A (p.Arg1224His) single nucleotide variant not provided [RCV001934786] Chr16:29987943 [GRCh38]
Chr16:29999264 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2581A>G (p.Ile861Val) single nucleotide variant not provided [RCV001875694] Chr16:29986853 [GRCh38]
Chr16:29998174 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.233G>A (p.Arg78Gln) single nucleotide variant not provided [RCV001897572] Chr16:29978280 [GRCh38]
Chr16:29989601 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2200G>T (p.Ala734Ser) single nucleotide variant not provided [RCV001875728] Chr16:29986472 [GRCh38]
Chr16:29997793 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2299A>C (p.Thr767Pro) single nucleotide variant not provided [RCV001920167] Chr16:29986571 [GRCh38]
Chr16:29997892 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1382G>A (p.Arg461His) single nucleotide variant not provided [RCV001994292] Chr16:29983624 [GRCh38]
Chr16:29994945 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3071C>T (p.Thr1024Ile) single nucleotide variant not provided [RCV001961321] Chr16:29987343 [GRCh38]
Chr16:29998664 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2816C>T (p.Pro939Leu) single nucleotide variant not provided [RCV001884177]|not specified [RCV004039041] Chr16:29987088 [GRCh38]
Chr16:29998409 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3232C>T (p.Arg1078Cys) single nucleotide variant not provided [RCV002017429]|not specified [RCV004046012] Chr16:29987504 [GRCh38]
Chr16:29998825 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.999+6C>A single nucleotide variant not provided [RCV001940701] Chr16:29982907 [GRCh38]
Chr16:29994228 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2819C>G (p.Ala940Gly) single nucleotide variant not provided [RCV001879099] Chr16:29987091 [GRCh38]
Chr16:29998412 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3185C>T (p.Ala1062Val) single nucleotide variant not provided [RCV001993768]|not specified [RCV004044665] Chr16:29987457 [GRCh38]
Chr16:29998778 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1678G>A (p.Glu560Lys) single nucleotide variant not provided [RCV001898484]|not specified [RCV004041517] Chr16:29985468 [GRCh38]
Chr16:29996789 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3140C>A (p.Ala1047Asp) single nucleotide variant not provided [RCV001870595] Chr16:29987412 [GRCh38]
Chr16:29998733 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3620C>T (p.Pro1207Leu) single nucleotide variant not provided [RCV002049132]|not specified [RCV004044850] Chr16:29987892 [GRCh38]
Chr16:29999213 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1564G>A (p.Ala522Thr) single nucleotide variant not provided [RCV001876699] Chr16:29985354 [GRCh38]
Chr16:29996675 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1261-3T>C single nucleotide variant not provided [RCV001881436] Chr16:29983500 [GRCh38]
Chr16:29994821 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3283A>G (p.Met1095Val) single nucleotide variant not provided [RCV001936548] Chr16:29987555 [GRCh38]
Chr16:29998876 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2359A>G (p.Arg787Gly) single nucleotide variant not provided [RCV001957303] Chr16:29986631 [GRCh38]
Chr16:29997952 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3670C>T (p.Arg1224Cys) single nucleotide variant not provided [RCV001931992] Chr16:29987942 [GRCh38]
Chr16:29999263 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2160C>T (p.Tyr720=) single nucleotide variant not provided [RCV002185591] Chr16:29986432 [GRCh38]
Chr16:29997753 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1848G>A (p.Gln616=) single nucleotide variant TAOK2-related condition [RCV003968836]|not provided [RCV002073831] Chr16:29985717 [GRCh38]
Chr16:29997038 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2961A>G (p.Ala987=) single nucleotide variant not provided [RCV002185004] Chr16:29987233 [GRCh38]
Chr16:29998554 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.621C>T (p.Asp207=) single nucleotide variant not provided [RCV002125934] Chr16:29979474 [GRCh38]
Chr16:29990795 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3294G>A (p.Arg1098=) single nucleotide variant not provided [RCV002130411] Chr16:29987566 [GRCh38]
Chr16:29998887 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1080C>T (p.Ser360=) single nucleotide variant not provided [RCV002190856] Chr16:29983152 [GRCh38]
Chr16:29994473 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1308C>T (p.Pro436=) single nucleotide variant not provided [RCV002147205] Chr16:29983550 [GRCh38]
Chr16:29994871 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.21C>T (p.Ala7=) single nucleotide variant not provided [RCV002127253] Chr16:29977793 [GRCh38]
Chr16:29989114 [GRCh37]
Chr16:16p11.2		 benign
NM_016151.4(TAOK2):c.1461G>A (p.Ala487=) single nucleotide variant not provided [RCV002089144] Chr16:29985251 [GRCh38]
Chr16:29996572 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3588G>A (p.Arg1196=) single nucleotide variant not provided [RCV002206324] Chr16:29987860 [GRCh38]
Chr16:29999181 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1395C>T (p.His465=) single nucleotide variant not provided [RCV002091647] Chr16:29983637 [GRCh38]
Chr16:29994958 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.624C>G (p.Val208=) single nucleotide variant TAOK2-related condition [RCV003948895]|not provided [RCV002072894] Chr16:29979477 [GRCh38]
Chr16:29990798 [GRCh37]
Chr16:16p11.2		 benign|likely benign
NM_016151.4(TAOK2):c.749+17C>T single nucleotide variant not provided [RCV002125346] Chr16:29981771 [GRCh38]
Chr16:29993092 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1236C>T (p.His412=) single nucleotide variant not provided [RCV002210645] Chr16:29983308 [GRCh38]
Chr16:29994629 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1261-6C>T single nucleotide variant TAOK2-related condition [RCV003958806]|not provided [RCV002076033] Chr16:29983497 [GRCh38]
Chr16:29994818 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2724G>A (p.Gly908=) single nucleotide variant not provided [RCV002084613] Chr16:29986996 [GRCh38]
Chr16:29998317 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.87T>C (p.Ser29=) single nucleotide variant TAOK2-related condition [RCV003911250]|not provided [RCV002188185] Chr16:29977859 [GRCh38]
Chr16:29989180 [GRCh37]
Chr16:16p11.2		 likely benign
NC_000016.10:g.(29449194_29595531)_(30188533_30335547)del deletion See cases [RCV002227010] Chr16:29595531..30188533 [GRCh38]
Chr16:16p11.2		 likely pathogenic|low penetrance
NM_016151.4(TAOK2):c.832-19C>G single nucleotide variant not provided [RCV002186636] Chr16:29982715 [GRCh38]
Chr16:29994036 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1000-5C>T single nucleotide variant TAOK2-related condition [RCV003978525]|not provided [RCV002165463] Chr16:29983067 [GRCh38]
Chr16:29994388 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3488G>A (p.Arg1163Gln) single nucleotide variant TAOK2-related condition [RCV003913559]|not provided [RCV002187236] Chr16:29987760 [GRCh38]
Chr16:29999081 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1059A>T (p.Ser353=) single nucleotide variant not provided [RCV002145968] Chr16:29983131 [GRCh38]
Chr16:29994452 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1956G>A (p.Leu652=) single nucleotide variant not provided [RCV002191367] Chr16:29985825 [GRCh38]
Chr16:29997146 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.750-10_750-9del microsatellite not provided [RCV002209494] Chr16:29981847..29981848 [GRCh38]
Chr16:29993168..29993169 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3238G>C (p.Gly1080Arg) single nucleotide variant not provided [RCV002111389] Chr16:29987510 [GRCh38]
Chr16:29998831 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1413C>T (p.Thr471=) single nucleotide variant not provided [RCV002096649] Chr16:29983655 [GRCh38]
Chr16:29994976 [GRCh37]
Chr16:16p11.2		 benign
NM_016151.4(TAOK2):c.2397A>G (p.Arg799=) single nucleotide variant not provided [RCV002094834] Chr16:29986669 [GRCh38]
Chr16:29997990 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.831+11G>C single nucleotide variant not provided [RCV002206217] Chr16:29981951 [GRCh38]
Chr16:29993272 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1947G>A (p.Lys649=) single nucleotide variant not provided [RCV002076543] Chr16:29985816 [GRCh38]
Chr16:29997137 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2157G>A (p.Glu719=) single nucleotide variant not provided [RCV002174984] Chr16:29986429 [GRCh38]
Chr16:29997750 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2550G>A (p.Arg850=) single nucleotide variant not provided [RCV002116784] Chr16:29986822 [GRCh38]
Chr16:29998143 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1789-5C>T single nucleotide variant not provided [RCV002079001] Chr16:29985653 [GRCh38]
Chr16:29996974 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2911C>T (p.Leu971=) single nucleotide variant not provided [RCV002212048] Chr16:29987183 [GRCh38]
Chr16:29998504 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2061G>A (p.Thr687=) single nucleotide variant not provided [RCV002075337] Chr16:29986333 [GRCh38]
Chr16:29997654 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.690G>A (p.Ala230=) single nucleotide variant not provided [RCV002108254] Chr16:29981695 [GRCh38]
Chr16:29993016 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.951C>T (p.Phe317=) single nucleotide variant not provided [RCV002150741] Chr16:29982853 [GRCh38]
Chr16:29994174 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.477G>T (p.Leu159=) single nucleotide variant not provided [RCV002206948] Chr16:29979222 [GRCh38]
Chr16:29990543 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.966C>T (p.Asn322=) single nucleotide variant not provided [RCV002171641] Chr16:29982868 [GRCh38]
Chr16:29994189 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.450-6T>C single nucleotide variant not provided [RCV002145230] Chr16:29979189 [GRCh38]
Chr16:29990510 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.353-18T>G single nucleotide variant not provided [RCV002213934] Chr16:29978956 [GRCh38]
Chr16:29990277 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3657C>T (p.Ala1219=) single nucleotide variant not provided [RCV002185708] Chr16:29987929 [GRCh38]
Chr16:29999250 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1993-4T>A single nucleotide variant not provided [RCV002190680] Chr16:29986261 [GRCh38]
Chr16:29997582 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1323G>A (p.Pro441=) single nucleotide variant TAOK2-related condition [RCV003911169]|not provided [RCV002097235] Chr16:29983565 [GRCh38]
Chr16:29994886 [GRCh37]
Chr16:16p11.2		 benign|likely benign
NM_016151.4(TAOK2):c.2259C>T (p.Gly753=) single nucleotide variant not provided [RCV002174919] Chr16:29986531 [GRCh38]
Chr16:29997852 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1789-6G>A single nucleotide variant not provided [RCV002171481] Chr16:29985652 [GRCh38]
Chr16:29996973 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1722G>A (p.Lys574=) single nucleotide variant not provided [RCV002214728] Chr16:29985512 [GRCh38]
Chr16:29996833 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1843C>A (p.Arg615=) single nucleotide variant not provided [RCV002197216] Chr16:29985712 [GRCh38]
Chr16:29997033 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.132+12C>G single nucleotide variant not provided [RCV002187174] Chr16:29977916 [GRCh38]
Chr16:29989237 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.450-15C>T single nucleotide variant not provided [RCV002076235] Chr16:29979180 [GRCh38]
Chr16:29990501 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1089C>T (p.Ser363=) single nucleotide variant not provided [RCV002071325] Chr16:29983161 [GRCh38]
Chr16:29994482 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3081G>A (p.Gly1027=) single nucleotide variant not provided [RCV002211890] Chr16:29987353 [GRCh38]
Chr16:29998674 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3216G>A (p.Gln1072=) single nucleotide variant not provided [RCV002173130] Chr16:29987488 [GRCh38]
Chr16:29998809 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.449+15G>A single nucleotide variant not provided [RCV002174177] Chr16:29979085 [GRCh38]
Chr16:29990406 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3150C>T (p.Leu1050=) single nucleotide variant not provided [RCV002211757] Chr16:29987422 [GRCh38]
Chr16:29998743 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3087C>T (p.Val1029=) single nucleotide variant not provided [RCV002169985] Chr16:29987359 [GRCh38]
Chr16:29998680 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1788+22del deletion not provided [RCV002080669] Chr16:29985596 [GRCh38]
Chr16:29996917 [GRCh37]
Chr16:16p11.2		 benign
NM_016151.4(TAOK2):c.656-19C>G single nucleotide variant not provided [RCV002083080] Chr16:29981642 [GRCh38]
Chr16:29992963 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3631C>T (p.Arg1211Cys) single nucleotide variant not provided [RCV002097855] Chr16:29987903 [GRCh38]
Chr16:29999224 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1140GGA[9] (p.Glu390_Glu392dup) microsatellite TAOK2-related condition [RCV003911320]|not provided [RCV002083274] Chr16:29983209..29983210 [GRCh38]
Chr16:29994530..29994531 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.399C>T (p.His133=) single nucleotide variant not provided [RCV002156177] Chr16:29979020 [GRCh38]
Chr16:29990341 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1000-14C>T single nucleotide variant not provided [RCV002156884] Chr16:29983058 [GRCh38]
Chr16:29994379 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1329A>G (p.Ala443=) single nucleotide variant not provided [RCV002182085] Chr16:29983571 [GRCh38]
Chr16:29994892 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1101C>T (p.Ser367=) single nucleotide variant not provided [RCV002164756] Chr16:29983173 [GRCh38]
Chr16:29994494 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.774C>T (p.Val258=) single nucleotide variant not provided [RCV002177002] Chr16:29981883 [GRCh38]
Chr16:29993204 [GRCh37]
Chr16:16p11.2		 benign
NM_016151.4(TAOK2):c.471C>T (p.Ile157=) single nucleotide variant not provided [RCV002220410] Chr16:29979216 [GRCh38]
Chr16:29990537 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3522G>A (p.Pro1174=) single nucleotide variant not provided [RCV002184537] Chr16:29987794 [GRCh38]
Chr16:29999115 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1407C>T (p.Ile469=) single nucleotide variant not provided [RCV002201863] Chr16:29983649 [GRCh38]
Chr16:29994970 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2223G>A (p.Lys741=) single nucleotide variant not provided [RCV002158759] Chr16:29986495 [GRCh38]
Chr16:29997816 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.978C>T (p.Ala326=) single nucleotide variant not provided [RCV002176301] Chr16:29982880 [GRCh38]
Chr16:29994201 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.396C>T (p.Thr132=) single nucleotide variant not provided [RCV002099172] Chr16:29979017 [GRCh38]
Chr16:29990338 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1191G>A (p.Arg397=) single nucleotide variant not provided [RCV002138488] Chr16:29983263 [GRCh38]
Chr16:29994584 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1458T>C (p.Ser486=) single nucleotide variant not provided [RCV002162944] Chr16:29985248 [GRCh38]
Chr16:29996569 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.999+9G>A single nucleotide variant not provided [RCV002159206] Chr16:29982910 [GRCh38]
Chr16:29994231 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.78G>A (p.Lys26=) single nucleotide variant not provided [RCV002141009] Chr16:29977850 [GRCh38]
Chr16:29989171 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2907G>A (p.Leu969=) single nucleotide variant not provided [RCV002175883] Chr16:29987179 [GRCh38]
Chr16:29998500 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2901C>T (p.Pro967=) single nucleotide variant not provided [RCV002217154] Chr16:29987173 [GRCh38]
Chr16:29998494 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.353-13C>T single nucleotide variant not provided [RCV002176731] Chr16:29978961 [GRCh38]
Chr16:29990282 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2256G>A (p.Pro752=) single nucleotide variant not provided [RCV002139458] Chr16:29986528 [GRCh38]
Chr16:29997849 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.750-6T>C single nucleotide variant not provided [RCV002183083] Chr16:29981853 [GRCh38]
Chr16:29993174 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1773G>A (p.Lys591=) single nucleotide variant not provided [RCV002162170] Chr16:29985563 [GRCh38]
Chr16:29996884 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3486A>G (p.Ala1162=) single nucleotide variant not provided [RCV002181328] Chr16:29987758 [GRCh38]
Chr16:29999079 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.330C>G (p.Gly110=) single nucleotide variant not provided [RCV002122176] Chr16:29978822 [GRCh38]
Chr16:29990143 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1789-7C>T single nucleotide variant not provided [RCV002157025] Chr16:29985651 [GRCh38]
Chr16:29996972 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1423-10C>T single nucleotide variant not provided [RCV002136653] Chr16:29985203 [GRCh38]
Chr16:29996524 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.353-8C>T single nucleotide variant not provided [RCV002181581] Chr16:29978966 [GRCh38]
Chr16:29990287 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.449+14C>T single nucleotide variant not provided [RCV002136686] Chr16:29979084 [GRCh38]
Chr16:29990405 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1590G>A (p.Ala530=) single nucleotide variant not provided [RCV002099311] Chr16:29985380 [GRCh38]
Chr16:29996701 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1261-12A>G single nucleotide variant not provided [RCV002142680] Chr16:29983491 [GRCh38]
Chr16:29994812 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.573C>T (p.Pro191=) single nucleotide variant not provided [RCV003110828] Chr16:29979426 [GRCh38]
Chr16:29990747 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2709AGA[1] (p.Glu907del) microsatellite not provided [RCV003113056] Chr16:29986979..29986981 [GRCh38]
Chr16:29998300..29998302 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1116A>G (p.Ala372=) single nucleotide variant not provided [RCV003115230] Chr16:29983188 [GRCh38]
Chr16:29994509 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3202A>T (p.Arg1068Ter) single nucleotide variant See cases [RCV003151933] Chr16:29987474 [GRCh38]
Chr16:29998795 [GRCh37]
Chr16:16p11.2		 uncertain significance
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
NM_016151.4(TAOK2):c.2990T>G (p.Val997Gly) single nucleotide variant See cases [RCV002253112] Chr16:29987262 [GRCh38]
Chr16:29998583 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004783.4(TAOK2):c.3074C>T (p.Ala1025Val) single nucleotide variant See cases [RCV002253125] Chr16:29991492 [GRCh38]
Chr16:30002813 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:29591078-30177240) copy number gain Chromosome 16p11.2 duplication syndrome [RCV002280691] Chr16:29591078..30177240 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_016151.4(TAOK2):c.492A>T (p.Leu164Phe) single nucleotide variant Autism [RCV002286563] Chr16:29979237 [GRCh38]
Chr16:29990558 [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(chr16:29567296-30177807)x1 copy number loss Dysmorphic features [RCV002282737] Chr16:29567296..30177807 [GRCh37]
Chr16:16p11.2		 uncertain significance
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(chr16:29622758-30240227)x3 copy number gain not provided [RCV002472648] Chr16:29622758..30240227 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_016151.4(TAOK2):c.2167C>T (p.Arg723Trp) single nucleotide variant not provided [RCV002302208] Chr16:29986439 [GRCh38]
Chr16:29997760 [GRCh37]
Chr16:16p11.2		 uncertain significance
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(chr16:29432213-30240227)x1 copy number loss not provided [RCV002473521] Chr16:29432213..30240227 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_016151.4(TAOK2):c.492A>C (p.Leu164Phe) single nucleotide variant not provided [RCV002304001] Chr16:29979237 [GRCh38]
Chr16:29990558 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3037C>T (p.Pro1013Ser) single nucleotide variant not provided [RCV002300065] Chr16:29987309 [GRCh38]
Chr16:29998630 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1204A>T (p.Met402Leu) single nucleotide variant not provided [RCV002299865]|not specified [RCV004047676] Chr16:29983276 [GRCh38]
Chr16:29994597 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1183G>A (p.Glu395Lys) single nucleotide variant not provided [RCV002299447] Chr16:29983255 [GRCh38]
Chr16:29994576 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1430G>T (p.Arg477Leu) single nucleotide variant Hepatocellular carcinoma [RCV002302754] Chr16:29985220 [GRCh38]
Chr16:29996541 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_016151.4(TAOK2):c.151A>G (p.Ser51Gly) single nucleotide variant not provided [RCV002295052] Chr16:29978107 [GRCh38]
Chr16:29989428 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.562T>C (p.Trp188Arg) single nucleotide variant not provided [RCV002302361] Chr16:29979307 [GRCh38]
Chr16:29990628 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2893C>T (p.Leu965Phe) single nucleotide variant not specified [RCV004159180] Chr16:29987165 [GRCh38]
Chr16:29998486 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1422+9A>G single nucleotide variant not provided [RCV002816314] Chr16:29983673 [GRCh38]
Chr16:29994994 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1252C>T (p.Arg418Trp) single nucleotide variant not provided [RCV002994879]|not specified [RCV004068444] Chr16:29983324 [GRCh38]
Chr16:29994645 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1360G>A (p.Ala454Thr) single nucleotide variant not provided [RCV003015107] Chr16:29983602 [GRCh38]
Chr16:29994923 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1315C>A (p.Leu439Ile) single nucleotide variant not specified [RCV004126654] Chr16:29983557 [GRCh38]
Chr16:29994878 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.831+18T>C single nucleotide variant not provided [RCV003032535] Chr16:29981958 [GRCh38]
Chr16:29993279 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3171T>C (p.Ala1057=) single nucleotide variant not provided [RCV002904761] Chr16:29987443 [GRCh38]
Chr16:29998764 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1369C>T (p.Arg457Trp) single nucleotide variant not provided [RCV002613760] Chr16:29983611 [GRCh38]
Chr16:29994932 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1603T>C (p.Phe535Leu) single nucleotide variant not provided [RCV003014267] Chr16:29985393 [GRCh38]
Chr16:29996714 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3677G>C (p.Arg1226Pro) single nucleotide variant not provided [RCV003015001]|not specified [RCV004068619] Chr16:29987949 [GRCh38]
Chr16:29999270 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2933C>T (p.Ala978Val) single nucleotide variant not provided [RCV003012555] Chr16:29987205 [GRCh38]
Chr16:29998526 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2869T>G (p.Phe957Val) single nucleotide variant not provided [RCV002815755] Chr16:29987141 [GRCh38]
Chr16:29998462 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1366C>T (p.Arg456Cys) single nucleotide variant not provided [RCV002617004] Chr16:29983608 [GRCh38]
Chr16:29994929 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.133-18T>C single nucleotide variant not provided [RCV002880312] Chr16:29978071 [GRCh38]
Chr16:29989392 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1359del (p.Ala454fs) deletion not provided [RCV002858319] Chr16:29983600 [GRCh38]
Chr16:29994921 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3328G>A (p.Gly1110Ser) single nucleotide variant TAOK2-related condition [RCV003403992]|not provided [RCV002968006]|not specified [RCV004065096] Chr16:29987600 [GRCh38]
Chr16:29998921 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3682T>G (p.Ser1228Ala) single nucleotide variant not provided [RCV002991774] Chr16:29987954 [GRCh38]
Chr16:29999275 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.797C>T (p.Pro266Leu) single nucleotide variant not provided [RCV002903225] Chr16:29981906 [GRCh38]
Chr16:29993227 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2574G>A (p.Glu858=) single nucleotide variant not provided [RCV002972640] Chr16:29986846 [GRCh38]
Chr16:29998167 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.588C>T (p.Ala196=) single nucleotide variant not provided [RCV002615594] Chr16:29979441 [GRCh38]
Chr16:29990762 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2044C>T (p.Arg682Trp) single nucleotide variant not provided [RCV002908125] Chr16:29986316 [GRCh38]
Chr16:29997637 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3226C>T (p.Arg1076Trp) single nucleotide variant not provided [RCV002614176] Chr16:29987498 [GRCh38]
Chr16:29998819 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2563G>A (p.Val855Ile) single nucleotide variant not provided [RCV002730296] Chr16:29986835 [GRCh38]
Chr16:29998156 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3459G>A (p.Leu1153=) single nucleotide variant not provided [RCV002996275] Chr16:29987731 [GRCh38]
Chr16:29999052 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.764G>A (p.Arg255Gln) single nucleotide variant not provided [RCV002756242] Chr16:29981873 [GRCh38]
Chr16:29993194 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3307T>C (p.Cys1103Arg) single nucleotide variant not provided [RCV002842022] Chr16:29987579 [GRCh38]
Chr16:29998900 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3252C>A (p.Leu1084=) single nucleotide variant not provided [RCV002686036] Chr16:29987524 [GRCh38]
Chr16:29998845 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1891C>G (p.Leu631Val) single nucleotide variant not provided [RCV003699019]|not specified [RCV004218343] Chr16:29985760 [GRCh38]
Chr16:29997081 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2060C>T (p.Thr687Met) single nucleotide variant not provided [RCV002613532] Chr16:29986332 [GRCh38]
Chr16:29997653 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2964G>A (p.Ala988=) single nucleotide variant not provided [RCV002775677] Chr16:29987236 [GRCh38]
Chr16:29998557 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1974C>A (p.Asp658Glu) single nucleotide variant not provided [RCV002974976] Chr16:29985843 [GRCh38]
Chr16:29997164 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2833G>C (p.Gly945Arg) single nucleotide variant not provided [RCV002882158] Chr16:29987105 [GRCh38]
Chr16:29998426 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2851C>A (p.Leu951Ile) single nucleotide variant not provided [RCV003075919] Chr16:29987123 [GRCh38]
Chr16:29998444 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3292C>T (p.Arg1098Trp) single nucleotide variant not provided [RCV002618161] Chr16:29987564 [GRCh38]
Chr16:29998885 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.971C>T (p.Pro324Leu) single nucleotide variant not provided [RCV003777737]|not specified [RCV004111946] Chr16:29982873 [GRCh38]
Chr16:29994194 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1172AAG[1] (p.Glu392del) microsatellite not provided [RCV002863113] Chr16:29983243..29983245 [GRCh38]
Chr16:29994564..29994566 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.546C>T (p.Phe182=) single nucleotide variant not provided [RCV002996204] Chr16:29979291 [GRCh38]
Chr16:29990612 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1646T>C (p.Ile549Thr) single nucleotide variant not specified [RCV004120081] Chr16:29985436 [GRCh38]
Chr16:29996757 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1787A>G (p.Glu596Gly) single nucleotide variant not specified [RCV004173374] Chr16:29985577 [GRCh38]
Chr16:29996898 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3684C>A (p.Ser1228=) single nucleotide variant not provided [RCV003037751] Chr16:29987956 [GRCh38]
Chr16:29999277 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3570G>T (p.Arg1190=) single nucleotide variant not provided [RCV002639773] Chr16:29987842 [GRCh38]
Chr16:29999163 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2125C>T (p.Gln709Ter) single nucleotide variant not provided [RCV002871156] Chr16:29986397 [GRCh38]
Chr16:29997718 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1388G>A (p.Arg463Gln) single nucleotide variant not provided [RCV002621904] Chr16:29983630 [GRCh38]
Chr16:29994951 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2810C>T (p.Pro937Leu) single nucleotide variant not specified [RCV004093145] Chr16:29987082 [GRCh38]
Chr16:29998403 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1430G>A (p.Arg477His) single nucleotide variant not specified [RCV004098949] Chr16:29985220 [GRCh38]
Chr16:29996541 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1331C>T (p.Ala444Val) single nucleotide variant not provided [RCV002717244]|not specified [RCV004067772] Chr16:29983573 [GRCh38]
Chr16:29994894 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1819C>T (p.Arg607Trp) single nucleotide variant not provided [RCV003038487] Chr16:29985688 [GRCh38]
Chr16:29997009 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1365C>T (p.Arg455=) single nucleotide variant not provided [RCV002572045] Chr16:29983607 [GRCh38]
Chr16:29994928 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3150C>G (p.Leu1050=) single nucleotide variant not provided [RCV002952723] Chr16:29987422 [GRCh38]
Chr16:29998743 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3028C>T (p.Leu1010=) single nucleotide variant not provided [RCV002871578] Chr16:29987300 [GRCh38]
Chr16:29998621 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1333C>A (p.Pro445Thr) single nucleotide variant not provided [RCV002952397] Chr16:29983575 [GRCh38]
Chr16:29994896 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1353C>T (p.Thr451=) single nucleotide variant not provided [RCV002662780] Chr16:29983595 [GRCh38]
Chr16:29994916 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.810A>G (p.Pro270=) single nucleotide variant not provided [RCV003020106] Chr16:29981919 [GRCh38]
Chr16:29993240 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3402G>A (p.Arg1134=) single nucleotide variant not provided [RCV002913140] Chr16:29987674 [GRCh38]
Chr16:29998995 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2756A>T (p.Asp919Val) single nucleotide variant not provided [RCV003037599] Chr16:29987028 [GRCh38]
Chr16:29998349 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.834C>T (p.His278=) single nucleotide variant not provided [RCV003019182] Chr16:29982736 [GRCh38]
Chr16:29994057 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1684C>T (p.Arg562Trp) single nucleotide variant not provided [RCV002619871] Chr16:29985474 [GRCh38]
Chr16:29996795 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.655+19T>C single nucleotide variant not provided [RCV002638942] Chr16:29979527 [GRCh38]
Chr16:29990848 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3227G>T (p.Arg1076Leu) single nucleotide variant not provided [RCV002691235] Chr16:29987499 [GRCh38]
Chr16:29998820 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2968C>T (p.Leu990=) single nucleotide variant not provided [RCV002690554] Chr16:29987240 [GRCh38]
Chr16:29998561 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2760T>C (p.Gly920=) single nucleotide variant not provided [RCV002760453] Chr16:29987032 [GRCh38]
Chr16:29998353 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1364G>A (p.Arg455His) single nucleotide variant not specified [RCV004113362] Chr16:29983606 [GRCh38]
Chr16:29994927 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3012G>C (p.Leu1004=) single nucleotide variant not provided [RCV002923479] Chr16:29987284 [GRCh38]
Chr16:29998605 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3696C>G (p.Pro1232=) single nucleotide variant not provided [RCV002636703] Chr16:29987968 [GRCh38]
Chr16:29999289 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2955G>T (p.Leu985=) single nucleotide variant not provided [RCV002591141] Chr16:29987227 [GRCh38]
Chr16:29998548 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1938C>T (p.Tyr646=) single nucleotide variant not provided [RCV002866687] Chr16:29985807 [GRCh38]
Chr16:29997128 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1014C>T (p.Tyr338=) single nucleotide variant not provided [RCV002760194] Chr16:29983086 [GRCh38]
Chr16:29994407 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004783.4(TAOK2):c.2974C>T (p.Arg992Cys) single nucleotide variant not specified [RCV004112962] Chr16:29991392 [GRCh38]
Chr16:30002713 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1283A>G (p.Asp428Gly) single nucleotide variant not specified [RCV004227590] Chr16:29983525 [GRCh38]
Chr16:29994846 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.463G>A (p.Gly155Arg) single nucleotide variant not provided [RCV003019478] Chr16:29979208 [GRCh38]
Chr16:29990529 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2195A>C (p.His732Pro) single nucleotide variant not specified [RCV004153845] Chr16:29986467 [GRCh38]
Chr16:29997788 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1788+8A>C single nucleotide variant not provided [RCV002848295] Chr16:29985586 [GRCh38]
Chr16:29996907 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1992+2T>C single nucleotide variant not provided [RCV002979400] Chr16:29985863 [GRCh38]
Chr16:29997184 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.14G>T (p.Gly5Val) single nucleotide variant not provided [RCV002781549] Chr16:29977786 [GRCh38]
Chr16:29989107 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.699C>T (p.Ala233=) single nucleotide variant not provided [RCV003019844] Chr16:29981704 [GRCh38]
Chr16:29993025 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3688G>T (p.Ala1230Ser) single nucleotide variant not provided [RCV002885918] Chr16:29987960 [GRCh38]
Chr16:29999281 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3126C>T (p.Pro1042=) single nucleotide variant not provided [RCV002690721] Chr16:29987398 [GRCh38]
Chr16:29998719 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1476G>A (p.Leu492=) single nucleotide variant not provided [RCV002662464] Chr16:29985266 [GRCh38]
Chr16:29996587 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3072C>T (p.Thr1024=) single nucleotide variant not provided [RCV002639387] Chr16:29987344 [GRCh38]
Chr16:29998665 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2171G>A (p.Arg724His) single nucleotide variant not provided [RCV002735440] Chr16:29986443 [GRCh38]
Chr16:29997764 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1566A>C (p.Ala522=) single nucleotide variant not provided [RCV003100418] Chr16:29985356 [GRCh38]
Chr16:29996677 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.22G>A (p.Gly8Arg) single nucleotide variant not provided [RCV002595034]|not specified [RCV004065730] Chr16:29977794 [GRCh38]
Chr16:29989115 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2607A>T (p.Thr869=) single nucleotide variant not provided [RCV002711210] Chr16:29986879 [GRCh38]
Chr16:29998200 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3685C>T (p.Arg1229Trp) single nucleotide variant not provided [RCV002959004] Chr16:29987957 [GRCh38]
Chr16:29999278 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2919G>C (p.Leu973=) single nucleotide variant not provided [RCV002745675] Chr16:29987191 [GRCh38]
Chr16:29998512 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1140GGA[10] (p.Glu392_Gly393insGluGluGluGlu) microsatellite not provided [RCV002627308] Chr16:29983209..29983210 [GRCh38]
Chr16:29994530..29994531 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1643C>G (p.Ala548Gly) single nucleotide variant not provided [RCV002791519] Chr16:29985433 [GRCh38]
Chr16:29996754 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2091C>T (p.Ala697=) single nucleotide variant not provided [RCV003083165] Chr16:29986363 [GRCh38]
Chr16:29997684 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2053G>A (p.Glu685Lys) single nucleotide variant not provided [RCV002933400] Chr16:29986325 [GRCh38]
Chr16:29997646 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2170C>T (p.Arg724Cys) single nucleotide variant not provided [RCV002700849] Chr16:29986442 [GRCh38]
Chr16:29997763 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3563G>T (p.Gly1188Val) single nucleotide variant not provided [RCV002932311] Chr16:29987835 [GRCh38]
Chr16:29999156 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.450-7C>T single nucleotide variant TAOK2-related condition [RCV003961080]|not provided [RCV002597185] Chr16:29979188 [GRCh38]
Chr16:29990509 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.207A>G (p.Lys69=) single nucleotide variant not provided [RCV002573110] Chr16:29978254 [GRCh38]
Chr16:29989575 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3181del (p.Val1061fs) deletion not provided [RCV003043197] Chr16:29987452 [GRCh38]
Chr16:29998773 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.325C>G (p.Leu109Val) single nucleotide variant not provided [RCV002982945] Chr16:29978817 [GRCh38]
Chr16:29990138 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2248C>T (p.Arg750Cys) single nucleotide variant not provided [RCV002573888] Chr16:29986520 [GRCh38]
Chr16:29997841 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3195G>T (p.Ala1065=) single nucleotide variant not provided [RCV002828227] Chr16:29987467 [GRCh38]
Chr16:29998788 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2937C>T (p.Ala979=) single nucleotide variant not provided [RCV003055997] Chr16:29987209 [GRCh38]
Chr16:29998530 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1381C>T (p.Arg461Cys) single nucleotide variant not provided [RCV002623700] Chr16:29983623 [GRCh38]
Chr16:29994944 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3698C>G (p.Pro1233Arg) single nucleotide variant not provided [RCV002663892] Chr16:29987970 [GRCh38]
Chr16:29999291 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.699C>G (p.Ala233=) single nucleotide variant not provided [RCV002594163] Chr16:29981704 [GRCh38]
Chr16:29993025 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1416C>T (p.Ala472=) single nucleotide variant not provided [RCV002574064] Chr16:29983658 [GRCh38]
Chr16:29994979 [GRCh37]
Chr16:16p11.2		 likely benign
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
NM_016151.4(TAOK2):c.1875G>A (p.Ala625=) single nucleotide variant not provided [RCV002982250] Chr16:29985744 [GRCh38]
Chr16:29997065 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2052C>T (p.His684=) single nucleotide variant not provided [RCV002917745] Chr16:29986324 [GRCh38]
Chr16:29997645 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2666G>C (p.Trp889Ser) single nucleotide variant not provided [RCV002623676]|not specified [RCV004070483] Chr16:29986938 [GRCh38]
Chr16:29998259 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1062G>A (p.Val354=) single nucleotide variant not provided [RCV002765558] Chr16:29983134 [GRCh38]
Chr16:29994455 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2815C>T (p.Pro939Ser) single nucleotide variant not provided [RCV003023433] Chr16:29987087 [GRCh38]
Chr16:29998408 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1523C>G (p.Ala508Gly) single nucleotide variant not provided [RCV002594937] Chr16:29985313 [GRCh38]
Chr16:29996634 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1992+5G>A single nucleotide variant not provided [RCV002985543] Chr16:29985866 [GRCh38]
Chr16:29997187 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1677C>T (p.Ala559=) single nucleotide variant not provided [RCV002596339] Chr16:29985467 [GRCh38]
Chr16:29996788 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004783.4(TAOK2):c.3038G>A (p.Gly1013Asp) single nucleotide variant not specified [RCV004109242] Chr16:29991456 [GRCh38]
Chr16:30002777 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3187A>T (p.Met1063Leu) single nucleotide variant not provided [RCV003057653] Chr16:29987459 [GRCh38]
Chr16:29998780 [GRCh37]
Chr16:16p11.2		 uncertain significance
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_016151.4(TAOK2):c.2555C>T (p.Pro852Leu) single nucleotide variant not provided [RCV003777701]|not specified [RCV004101128] Chr16:29986827 [GRCh38]
Chr16:29998148 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3342G>T (p.Leu1114=) single nucleotide variant not provided [RCV003031558] Chr16:29987614 [GRCh38]
Chr16:29998935 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2829C>T (p.Leu943=) single nucleotide variant not provided [RCV002601563] Chr16:29987101 [GRCh38]
Chr16:29998422 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1140GGA[1] (p.Glu388_Glu392del) microsatellite not provided [RCV002963106] Chr16:29983210..29983224 [GRCh38]
Chr16:29994531..29994545 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3124C>T (p.Pro1042Ser) single nucleotide variant not provided [RCV002580907] Chr16:29987396 [GRCh38]
Chr16:29998717 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2362A>G (p.Met788Val) single nucleotide variant not provided [RCV002633040] Chr16:29986634 [GRCh38]
Chr16:29997955 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2841G>A (p.Leu947=) single nucleotide variant not provided [RCV002720291] Chr16:29987113 [GRCh38]
Chr16:29998434 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3521C>T (p.Pro1174Leu) single nucleotide variant not provided [RCV002632175] Chr16:29987793 [GRCh38]
Chr16:29999114 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1422+15C>T single nucleotide variant not provided [RCV002580508] Chr16:29983679 [GRCh38]
Chr16:29995000 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2251C>T (p.Pro751Ser) single nucleotide variant not provided [RCV002938180] Chr16:29986523 [GRCh38]
Chr16:29997844 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2606_2607inv (p.Thr869Met) inversion not provided [RCV003086273] Chr16:29986878..29986879 [GRCh38]
Chr16:29998199..29998200 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.579G>A (p.Val193=) single nucleotide variant not provided [RCV002715591] Chr16:29979432 [GRCh38]
Chr16:29990753 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004783.4(TAOK2):c.2608C>T (p.Arg870Trp) single nucleotide variant not specified [RCV004214924] Chr16:29990946 [GRCh38]
Chr16:30002267 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.563+11G>A single nucleotide variant not provided [RCV002877119] Chr16:29979319 [GRCh38]
Chr16:29990640 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1167G>C (p.Glu389Asp) single nucleotide variant not provided [RCV002962079] Chr16:29983239 [GRCh38]
Chr16:29994560 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.689C>T (p.Ala230Val) single nucleotide variant not provided [RCV002717350] Chr16:29981694 [GRCh38]
Chr16:29993015 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1348A>G (p.Thr450Ala) single nucleotide variant not provided [RCV002717087] Chr16:29983590 [GRCh38]
Chr16:29994911 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2674G>A (p.Gly892Ser) single nucleotide variant not provided [RCV002832986] Chr16:29986946 [GRCh38]
Chr16:29998267 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_004783.4(TAOK2):c.2360G>A (p.Arg787Gln) single nucleotide variant not specified [RCV004221341] Chr16:29989720 [GRCh38]
Chr16:30001041 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2282C>T (p.Ala761Val) single nucleotide variant not provided [RCV002597924] Chr16:29986554 [GRCh38]
Chr16:29997875 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2620G>A (p.Gly874Arg) single nucleotide variant not provided [RCV003048375] Chr16:29986892 [GRCh38]
Chr16:29998213 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.519G>A (p.Ala173=) single nucleotide variant not provided [RCV002650942] Chr16:29979264 [GRCh38]
Chr16:29990585 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3390T>C (p.Pro1130=) single nucleotide variant not provided [RCV003009198] Chr16:29987662 [GRCh38]
Chr16:29998983 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3049T>C (p.Phe1017Leu) single nucleotide variant not provided [RCV002811065] Chr16:29987321 [GRCh38]
Chr16:29998642 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1219C>G (p.His407Asp) single nucleotide variant not provided [RCV002966128] Chr16:29983291 [GRCh38]
Chr16:29994612 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3211C>T (p.Arg1071Trp) single nucleotide variant not provided [RCV002650225] Chr16:29987483 [GRCh38]
Chr16:29998804 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1000-2A>G single nucleotide variant not provided [RCV003028848] Chr16:29983070 [GRCh38]
Chr16:29994391 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1789-13T>C single nucleotide variant not provided [RCV003029759] Chr16:29985645 [GRCh38]
Chr16:29996966 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3397C>T (p.Arg1133Trp) single nucleotide variant not provided [RCV002577445] Chr16:29987669 [GRCh38]
Chr16:29998990 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3273C>T (p.Arg1091=) single nucleotide variant not provided [RCV002899905] Chr16:29987545 [GRCh38]
Chr16:29998866 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3318G>A (p.Val1106=) single nucleotide variant not provided [RCV002857243] Chr16:29987590 [GRCh38]
Chr16:29998911 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3007T>C (p.Tyr1003His) single nucleotide variant not provided [RCV003027553] Chr16:29987279 [GRCh38]
Chr16:29998600 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.40G>A (p.Asp14Asn) single nucleotide variant not provided [RCV002988798] Chr16:29977812 [GRCh38]
Chr16:29989133 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3599G>A (p.Arg1200His) single nucleotide variant not provided [RCV002646525] Chr16:29987871 [GRCh38]
Chr16:29999192 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.539A>G (p.Asn180Ser) single nucleotide variant not provided [RCV002962265]|not specified [RCV004068209] Chr16:29979284 [GRCh38]
Chr16:29990605 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3560G>T (p.Arg1187Leu) single nucleotide variant not provided [RCV002631161] Chr16:29987832 [GRCh38]
Chr16:29999153 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1930C>T (p.Arg644Cys) single nucleotide variant not provided [RCV002601854] Chr16:29985799 [GRCh38]
Chr16:29997120 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.353-5T>C single nucleotide variant not provided [RCV002670769] Chr16:29978969 [GRCh38]
Chr16:29990290 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1992+7A>C single nucleotide variant not provided [RCV002857415] Chr16:29985868 [GRCh38]
Chr16:29997189 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1121C>T (p.Ala374Val) single nucleotide variant not provided [RCV002649284] Chr16:29983193 [GRCh38]
Chr16:29994514 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.78G>T (p.Lys26Asn) single nucleotide variant not specified [RCV004129622] Chr16:29977850 [GRCh38]
Chr16:29989171 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2854C>T (p.Leu952=) single nucleotide variant not provided [RCV002832939] Chr16:29987126 [GRCh38]
Chr16:29998447 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1173A>G (p.Glu391=) single nucleotide variant not provided [RCV003065111] Chr16:29983245 [GRCh38]
Chr16:29994566 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.994G>A (p.Glu332Lys) single nucleotide variant not specified [RCV004152625] Chr16:29982896 [GRCh38]
Chr16:29994217 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.133-20C>T single nucleotide variant not provided [RCV002671171] Chr16:29978069 [GRCh38]
Chr16:29989390 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1455C>T (p.Asp485=) single nucleotide variant not provided [RCV003087964] Chr16:29985245 [GRCh38]
Chr16:29996566 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1789-4C>T single nucleotide variant not provided [RCV003086662] Chr16:29985654 [GRCh38]
Chr16:29996975 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2700G>A (p.Glu900=) single nucleotide variant not provided [RCV002634918] Chr16:29986972 [GRCh38]
Chr16:29998293 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2772C>T (p.Pro924=) single nucleotide variant not provided [RCV002942854] Chr16:29987044 [GRCh38]
Chr16:29998365 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2370C>T (p.Gly790=) single nucleotide variant not provided [RCV002653894] Chr16:29986642 [GRCh38]
Chr16:29997963 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1137_1145dup (p.Glu392_Gly393insGluGluGlu) duplication not provided [RCV002721611] Chr16:29983203..29983204 [GRCh38]
Chr16:29994524..29994525 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3103C>T (p.Arg1035Cys) single nucleotide variant not provided [RCV002654034] Chr16:29987375 [GRCh38]
Chr16:29998696 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.835C>T (p.Arg279Cys) single nucleotide variant not provided [RCV002606336] Chr16:29982737 [GRCh38]
Chr16:29994058 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1992+13A>G single nucleotide variant not provided [RCV002582802] Chr16:29985874 [GRCh38]
Chr16:29997195 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1347C>T (p.Ser449=) single nucleotide variant not provided [RCV002653553] Chr16:29983589 [GRCh38]
Chr16:29994910 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.307-6C>T single nucleotide variant not provided [RCV002603276] Chr16:29978793 [GRCh38]
Chr16:29990114 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.299C>T (p.Thr100Met) single nucleotide variant not provided [RCV002725508] Chr16:29978346 [GRCh38]
Chr16:29989667 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.656-20C>T single nucleotide variant not provided [RCV002604783] Chr16:29981641 [GRCh38]
Chr16:29992962 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3569G>A (p.Arg1190Gln) single nucleotide variant not provided [RCV002605243] Chr16:29987841 [GRCh38]
Chr16:29999162 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.563+17T>C single nucleotide variant not provided [RCV002653800] Chr16:29979325 [GRCh38]
Chr16:29990646 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1633C>T (p.Arg545Trp) single nucleotide variant not provided [RCV002943949] Chr16:29985423 [GRCh38]
Chr16:29996744 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1000-13G>A single nucleotide variant not provided [RCV002721316] Chr16:29983059 [GRCh38]
Chr16:29994380 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1260+9C>T single nucleotide variant not provided [RCV002583528] Chr16:29983341 [GRCh38]
Chr16:29994662 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3061G>A (p.Ala1021Thr) single nucleotide variant not provided [RCV002586620] Chr16:29987333 [GRCh38]
Chr16:29998654 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1671C>G (p.Ala557=) single nucleotide variant not provided [RCV002609639] Chr16:29985461 [GRCh38]
Chr16:29996782 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1152_1172dup (p.Glu392_Gly393insGluGluGluGluGluGluGlu) duplication not provided [RCV002586854] Chr16:29983203..29983204 [GRCh38]
Chr16:29994524..29994525 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3084C>T (p.Ala1028=) single nucleotide variant not provided [RCV002609936] Chr16:29987356 [GRCh38]
Chr16:29998677 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.129C>T (p.Tyr43=) single nucleotide variant not provided [RCV002603421] Chr16:29977901 [GRCh38]
Chr16:29989222 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2099G>A (p.Arg700His) single nucleotide variant not provided [RCV002653756] Chr16:29986371 [GRCh38]
Chr16:29997692 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3412C>T (p.Arg1138Cys) single nucleotide variant not provided [RCV002604641] Chr16:29987684 [GRCh38]
Chr16:29999005 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1896G>A (p.Leu632=) single nucleotide variant not provided [RCV002634501] Chr16:29985765 [GRCh38]
Chr16:29997086 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2844C>T (p.Ser948=) single nucleotide variant not provided [RCV003092259] Chr16:29987116 [GRCh38]
Chr16:29998437 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2265A>G (p.Pro755=) single nucleotide variant not provided [RCV002607210] Chr16:29986537 [GRCh38]
Chr16:29997858 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.563+6dup duplication not provided [RCV002635192] Chr16:29979313..29979314 [GRCh38]
Chr16:29990634..29990635 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2168G>A (p.Arg723Gln) single nucleotide variant not provided [RCV002611933] Chr16:29986440 [GRCh38]
Chr16:29997761 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1567C>T (p.Arg523Trp) single nucleotide variant not provided [RCV002588165] Chr16:29985357 [GRCh38]
Chr16:29996678 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2369G>A (p.Gly790Asp) single nucleotide variant not specified [RCV004303361] Chr16:29986641 [GRCh38]
Chr16:29997962 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.17G>C (p.Arg6Pro) single nucleotide variant not specified [RCV004265763] Chr16:29977789 [GRCh38]
Chr16:29989110 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2915T>A (p.Leu972Gln) single nucleotide variant not specified [RCV004272974] Chr16:29987187 [GRCh38]
Chr16:29998508 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3511C>T (p.His1171Tyr) single nucleotide variant not specified [RCV004325227] Chr16:29987783 [GRCh38]
Chr16:29999104 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3070A>G (p.Thr1024Ala) single nucleotide variant not specified [RCV004267425] Chr16:29987342 [GRCh38]
Chr16:29998663 [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
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
GRCh37/hg19 16p11.2(chr16:29674568-30199897)x3 copy number gain not provided [RCV003334193] Chr16:29674568..30199897 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_016151.4(TAOK2):c.2442G>C (p.Gln814His) single nucleotide variant not specified [RCV004353097] Chr16:29986714 [GRCh38]
Chr16:29998035 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3212G>A (p.Arg1071Gln) single nucleotide variant not provided [RCV003875616] Chr16:29987484 [GRCh38]
Chr16:29998805 [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
NM_016151.4(TAOK2):c.1910A>T (p.Gln637Leu) single nucleotide variant not provided [RCV003712613] Chr16:29985779 [GRCh38]
Chr16:29997100 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1362CCG[4] (p.Arg457_Ala458insArg) microsatellite not provided [RCV003570172] Chr16:29983603..29983604 [GRCh38]
Chr16:29994924..29994925 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:29589674-30226930)x1 copy number loss not provided [RCV003483290] Chr16:29589674..30226930 [GRCh37]
Chr16:16p11.2		 pathogenic
Single allele duplication not provided [RCV003448664] Chr16:29651786..30199024 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_016151.4(TAOK2):c.446A>G (p.His149Arg) single nucleotide variant not provided [RCV003568938] Chr16:29979067 [GRCh38]
Chr16:29990388 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:29343245-30240227)x1 copy number loss not provided [RCV003483285] Chr16:29343245..30240227 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_016151.4(TAOK2):c.1422+7_1422+8del microsatellite not provided [RCV003872727] Chr16:29983669..29983670 [GRCh38]
Chr16:29994990..29994991 [GRCh37]
Chr16:16p11.2		 likely benign
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
GRCh37/hg19 16p11.2(chr16:29517698-30191848)x1 copy number loss not provided [RCV003483289] Chr16:29517698..30191848 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_016151.4(TAOK2):c.600G>A (p.Gly200=) single nucleotide variant not provided [RCV003419278] Chr16:29979453 [GRCh38]
Chr16:29990774 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004783.4(TAOK2):c.3038del (p.Gly1013fs) deletion TAOK2-related condition [RCV003414431] Chr16:29991451 [GRCh38]
Chr16:30002772 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1026C>T (p.Ala342=) single nucleotide variant not provided [RCV003693184] Chr16:29983098 [GRCh38]
Chr16:29994419 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3603C>G (p.Ser1201Arg) single nucleotide variant not provided [RCV003696055] Chr16:29987875 [GRCh38]
Chr16:29999196 [GRCh37]
Chr16:16p11.2		 uncertain significance
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
NM_016151.4(TAOK2):c.2431C>G (p.Pro811Ala) single nucleotide variant not provided [RCV003827185] Chr16:29986703 [GRCh38]
Chr16:29998024 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3252C>G (p.Leu1084=) single nucleotide variant not provided [RCV003692952] Chr16:29987524 [GRCh38]
Chr16:29998845 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.139G>A (p.Asp47Asn) single nucleotide variant not provided [RCV003691788] Chr16:29978095 [GRCh38]
Chr16:29989416 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1826A>C (p.Lys609Thr) single nucleotide variant not provided [RCV003714320] Chr16:29985695 [GRCh38]
Chr16:29997016 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1084T>G (p.Ser362Ala) single nucleotide variant not provided [RCV003661288] Chr16:29983156 [GRCh38]
Chr16:29994477 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3146G>C (p.Trp1049Ser) single nucleotide variant not provided [RCV003547197] Chr16:29987418 [GRCh38]
Chr16:29998739 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.275G>A (p.Arg92Gln) single nucleotide variant not provided [RCV003880286] Chr16:29978322 [GRCh38]
Chr16:29989643 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.868A>G (p.Ile290Val) single nucleotide variant not provided [RCV003693892] Chr16:29982770 [GRCh38]
Chr16:29994091 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1261-8C>T single nucleotide variant not provided [RCV003572521] Chr16:29983495 [GRCh38]
Chr16:29994816 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3401G>A (p.Arg1134Gln) single nucleotide variant not provided [RCV003830007] Chr16:29987673 [GRCh38]
Chr16:29998994 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.656-13C>T single nucleotide variant not provided [RCV003715414] Chr16:29981648 [GRCh38]
Chr16:29992969 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.705C>T (p.Tyr235=) single nucleotide variant not provided [RCV003716568] Chr16:29981710 [GRCh38]
Chr16:29993031 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1594C>T (p.Arg532Trp) single nucleotide variant not provided [RCV003739416] Chr16:29985384 [GRCh38]
Chr16:29996705 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2427G>A (p.Leu809=) single nucleotide variant not provided [RCV003827184] Chr16:29986699 [GRCh38]
Chr16:29998020 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.353-10C>G single nucleotide variant not provided [RCV003739446] Chr16:29978964 [GRCh38]
Chr16:29990285 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3342G>A (p.Leu1114=) single nucleotide variant not provided [RCV003577144] Chr16:29987614 [GRCh38]
Chr16:29998935 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2500C>A (p.Leu834Met) single nucleotide variant not provided [RCV003714957] Chr16:29986772 [GRCh38]
Chr16:29998093 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.832-4C>G single nucleotide variant not provided [RCV003713469] Chr16:29982730 [GRCh38]
Chr16:29994051 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2596G>A (p.Glu866Lys) single nucleotide variant not provided [RCV003573505] Chr16:29986868 [GRCh38]
Chr16:29998189 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3102G>C (p.Trp1034Cys) single nucleotide variant not provided [RCV003688092] Chr16:29987374 [GRCh38]
Chr16:29998695 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.518C>T (p.Ala173Val) single nucleotide variant not provided [RCV003663136] Chr16:29979263 [GRCh38]
Chr16:29990584 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3699C>G (p.Pro1233=) single nucleotide variant not provided [RCV003828704] Chr16:29987971 [GRCh38]
Chr16:29999292 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1682A>G (p.Glu561Gly) single nucleotide variant not provided [RCV003881015] Chr16:29985472 [GRCh38]
Chr16:29996793 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1314T>C (p.Pro438=) single nucleotide variant not provided [RCV003578984] Chr16:29983556 [GRCh38]
Chr16:29994877 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.204+13C>T single nucleotide variant not provided [RCV003826959] Chr16:29978173 [GRCh38]
Chr16:29989494 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.552C>T (p.Gly184=) single nucleotide variant not provided [RCV003881335] Chr16:29979297 [GRCh38]
Chr16:29990618 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1768C>T (p.Arg590Cys) single nucleotide variant not provided [RCV003661532] Chr16:29985558 [GRCh38]
Chr16:29996879 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1757C>A (p.Thr586Asn) single nucleotide variant not provided [RCV003573957] Chr16:29985547 [GRCh38]
Chr16:29996868 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3404G>C (p.Arg1135Pro) single nucleotide variant not provided [RCV003715947] Chr16:29987676 [GRCh38]
Chr16:29998997 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1241C>T (p.Ser414Phe) single nucleotide variant not provided [RCV003545821] Chr16:29983313 [GRCh38]
Chr16:29994634 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.354G>A (p.Val118=) single nucleotide variant not provided [RCV003715261] Chr16:29978975 [GRCh38]
Chr16:29990296 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.729C>T (p.Pro243=) single nucleotide variant not provided [RCV003574172] Chr16:29981734 [GRCh38]
Chr16:29993055 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.998A>G (p.Glu333Gly) single nucleotide variant not provided [RCV003662332] Chr16:29982900 [GRCh38]
Chr16:29994221 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1852G>C (p.Glu618Gln) single nucleotide variant not provided [RCV003686724] Chr16:29985721 [GRCh38]
Chr16:29997042 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3259C>T (p.Arg1087Trp) single nucleotide variant not provided [RCV003661079] Chr16:29987531 [GRCh38]
Chr16:29998852 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3013C>T (p.Leu1005Phe) single nucleotide variant not provided [RCV003546169] Chr16:29987285 [GRCh38]
Chr16:29998606 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1849A>G (p.Lys617Glu) single nucleotide variant not provided [RCV003686723] Chr16:29985718 [GRCh38]
Chr16:29997039 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2173_2190dup (p.Gln730_Lys731insGluGlnGluLeuArgGln) duplication not provided [RCV003548051] Chr16:29986444..29986445 [GRCh38]
Chr16:29997765..29997766 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2122C>T (p.Leu708=) single nucleotide variant not provided [RCV003852413] Chr16:29986394 [GRCh38]
Chr16:29997715 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3142G>T (p.Ala1048Ser) single nucleotide variant not provided [RCV003811324] Chr16:29987414 [GRCh38]
Chr16:29998735 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1961G>A (p.Arg654Gln) single nucleotide variant not provided [RCV003718053] Chr16:29985830 [GRCh38]
Chr16:29997151 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2541G>A (p.Glu847=) single nucleotide variant not provided [RCV003665556] Chr16:29986813 [GRCh38]
Chr16:29998134 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1423-16C>G single nucleotide variant not provided [RCV003811329] Chr16:29985197 [GRCh38]
Chr16:29996518 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2660T>G (p.Leu887Arg) single nucleotide variant not provided [RCV003698047] Chr16:29986932 [GRCh38]
Chr16:29998253 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.574G>A (p.Glu192Lys) single nucleotide variant not provided [RCV003580088] Chr16:29979427 [GRCh38]
Chr16:29990748 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1550G>A (p.Arg517Gln) single nucleotide variant not provided [RCV003666404] Chr16:29985340 [GRCh38]
Chr16:29996661 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2324C>T (p.Pro775Leu) single nucleotide variant not provided [RCV003703476] Chr16:29986596 [GRCh38]
Chr16:29997917 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3025G>A (p.Ala1009Thr) single nucleotide variant not provided [RCV003726912] Chr16:29987297 [GRCh38]
Chr16:29998618 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2907GCT[2] (p.Leu972_Leu974del) microsatellite not provided [RCV003671867] Chr16:29987177..29987185 [GRCh38]
Chr16:29998498..29998506 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3603C>A (p.Ser1201Arg) single nucleotide variant not provided [RCV003740378] Chr16:29987875 [GRCh38]
Chr16:29999196 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3449_3467del (p.Val1150fs) deletion not provided [RCV003659559] Chr16:29987714..29987732 [GRCh38]
Chr16:29999035..29999053 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2287G>A (p.Gly763Ser) single nucleotide variant not provided [RCV003854976] Chr16:29986559 [GRCh38]
Chr16:29997880 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2618G>T (p.Trp873Leu) single nucleotide variant not provided [RCV003849714] Chr16:29986890 [GRCh38]
Chr16:29998211 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.749+18G>C single nucleotide variant not provided [RCV003834741] Chr16:29981772 [GRCh38]
Chr16:29993093 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.285C>T (p.Tyr95=) single nucleotide variant not provided [RCV003702289] Chr16:29978332 [GRCh38]
Chr16:29989653 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.750-10T>C single nucleotide variant not provided [RCV003726512] Chr16:29981849 [GRCh38]
Chr16:29993170 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3416C>T (p.Thr1139Ile) single nucleotide variant not provided [RCV003717818]|not specified [RCV004374030] Chr16:29987688 [GRCh38]
Chr16:29999009 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.274C>T (p.Arg92Trp) single nucleotide variant not provided [RCV003666229] Chr16:29978321 [GRCh38]
Chr16:29989642 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.655+18G>C single nucleotide variant not provided [RCV003703509] Chr16:29979526 [GRCh38]
Chr16:29990847 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3640C>T (p.Leu1214=) single nucleotide variant not provided [RCV003667689] Chr16:29987912 [GRCh38]
Chr16:29999233 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1634G>A (p.Arg545Gln) single nucleotide variant not provided [RCV003837521] Chr16:29985424 [GRCh38]
Chr16:29996745 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.450-18G>A single nucleotide variant not provided [RCV003666378] Chr16:29979177 [GRCh38]
Chr16:29990498 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2482C>A (p.Pro828Thr) single nucleotide variant not provided [RCV003672543] Chr16:29986754 [GRCh38]
Chr16:29998075 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3479G>A (p.Arg1160His) single nucleotide variant not provided [RCV003839473] Chr16:29987751 [GRCh38]
Chr16:29999072 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.204+18C>T single nucleotide variant not provided [RCV003671744] Chr16:29978178 [GRCh38]
Chr16:29989499 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2280G>T (p.Gly760=) single nucleotide variant not provided [RCV003669556] Chr16:29986552 [GRCh38]
Chr16:29997873 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1788+16T>C single nucleotide variant not provided [RCV003838166] Chr16:29985594 [GRCh38]
Chr16:29996915 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3315T>C (p.Ala1105=) single nucleotide variant not provided [RCV003702858] Chr16:29987587 [GRCh38]
Chr16:29998908 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.730G>A (p.Val244Met) single nucleotide variant not provided [RCV003561375] Chr16:29981735 [GRCh38]
Chr16:29993056 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.563+7G>A single nucleotide variant not provided [RCV003726429] Chr16:29979315 [GRCh38]
Chr16:29990636 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2605A>C (p.Thr869Pro) single nucleotide variant not provided [RCV003667294] Chr16:29986877 [GRCh38]
Chr16:29998198 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.523A>G (p.Ile175Val) single nucleotide variant not provided [RCV003666753] Chr16:29979268 [GRCh38]
Chr16:29990589 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2330C>T (p.Ser777Leu) single nucleotide variant not provided [RCV003668060] Chr16:29986602 [GRCh38]
Chr16:29997923 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.819G>A (p.Glu273=) single nucleotide variant not provided [RCV003816057] Chr16:29981928 [GRCh38]
Chr16:29993249 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2797A>G (p.Thr933Ala) single nucleotide variant not provided [RCV003665757] Chr16:29987069 [GRCh38]
Chr16:29998390 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3490G>A (p.Ala1164Thr) single nucleotide variant not provided [RCV003671764] Chr16:29987762 [GRCh38]
Chr16:29999083 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2988G>T (p.Leu996=) single nucleotide variant not provided [RCV003671827] Chr16:29987260 [GRCh38]
Chr16:29998581 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1044C>T (p.Leu348=) single nucleotide variant not provided [RCV003672256] Chr16:29983116 [GRCh38]
Chr16:29994437 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1373C>T (p.Ala458Val) single nucleotide variant not provided [RCV003672333] Chr16:29983615 [GRCh38]
Chr16:29994936 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3403C>T (p.Arg1135Cys) single nucleotide variant not provided [RCV003832271] Chr16:29987675 [GRCh38]
Chr16:29998996 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2537T>C (p.Ile846Thr) single nucleotide variant not provided [RCV003835899] Chr16:29986809 [GRCh38]
Chr16:29998130 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3376C>T (p.Arg1126Cys) single nucleotide variant not provided [RCV003559368] Chr16:29987648 [GRCh38]
Chr16:29998969 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1253G>T (p.Arg418Leu) single nucleotide variant not provided [RCV003814167] Chr16:29983325 [GRCh38]
Chr16:29994646 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1012T>C (p.Tyr338His) single nucleotide variant not provided [RCV003559036] Chr16:29983084 [GRCh38]
Chr16:29994405 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3142G>C (p.Ala1048Pro) single nucleotide variant not provided [RCV003667642] Chr16:29987414 [GRCh38]
Chr16:29998735 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.832-19C>T single nucleotide variant not provided [RCV003672542] Chr16:29982715 [GRCh38]
Chr16:29994036 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.656-16T>C single nucleotide variant not provided [RCV003659457] Chr16:29981645 [GRCh38]
Chr16:29992966 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.749+8C>T single nucleotide variant not provided [RCV003740470] Chr16:29981762 [GRCh38]
Chr16:29993083 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2092G>A (p.Val698Met) single nucleotide variant not provided [RCV003667326] Chr16:29986364 [GRCh38]
Chr16:29997685 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.307-17C>T single nucleotide variant not provided [RCV003832066] Chr16:29978782 [GRCh38]
Chr16:29990103 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1423-16CT[2] microsatellite not provided [RCV003666556] Chr16:29985197..29985198 [GRCh38]
Chr16:29996518..29996519 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.656-17T>G single nucleotide variant not provided [RCV003859789] Chr16:29981644 [GRCh38]
Chr16:29992965 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2077C>T (p.Arg693Trp) single nucleotide variant not provided [RCV003553016] Chr16:29986349 [GRCh38]
Chr16:29997670 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1988G>A (p.Arg663Gln) single nucleotide variant not provided [RCV003552919] Chr16:29985857 [GRCh38]
Chr16:29997178 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3671G>C (p.Arg1224Pro) single nucleotide variant not provided [RCV003857321] Chr16:29987943 [GRCh38]
Chr16:29999264 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3106C>T (p.Arg1036Ter) single nucleotide variant not provided [RCV003553000] Chr16:29987378 [GRCh38]
Chr16:29998699 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3008A>G (p.Tyr1003Cys) single nucleotide variant not provided [RCV003823186] Chr16:29987280 [GRCh38]
Chr16:29998601 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.307-9C>G single nucleotide variant not provided [RCV003683157] Chr16:29978790 [GRCh38]
Chr16:29990111 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.832-15G>A single nucleotide variant not provided [RCV003706495] Chr16:29982719 [GRCh38]
Chr16:29994040 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.727C>T (p.Pro243Ser) single nucleotide variant not provided [RCV003678140] Chr16:29981732 [GRCh38]
Chr16:29993053 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1243A>G (p.Ile415Val) single nucleotide variant not provided [RCV003847668] Chr16:29983315 [GRCh38]
Chr16:29994636 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1576C>T (p.Arg526Trp) single nucleotide variant not provided [RCV003845826] Chr16:29985366 [GRCh38]
Chr16:29996687 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2664C>T (p.Gly888=) single nucleotide variant not provided [RCV003820008] Chr16:29986936 [GRCh38]
Chr16:29998257 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2907GCT[4] (p.Leu974del) microsatellite not provided [RCV003730987] Chr16:29987177..29987179 [GRCh38]
Chr16:29998498..29998500 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3069T>A (p.Gly1023=) single nucleotide variant not provided [RCV003846665] Chr16:29987341 [GRCh38]
Chr16:29998662 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3078G>C (p.Leu1026=) single nucleotide variant not provided [RCV003818914] Chr16:29987350 [GRCh38]
Chr16:29998671 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1631G>A (p.Arg544Gln) single nucleotide variant not provided [RCV003707650] Chr16:29985421 [GRCh38]
Chr16:29996742 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.564-16C>T single nucleotide variant not provided [RCV003551779] Chr16:29979401 [GRCh38]
Chr16:29990722 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2435A>G (p.Lys812Arg) single nucleotide variant not provided [RCV003732347] Chr16:29986707 [GRCh38]
Chr16:29998028 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2814C>T (p.Cys938=) single nucleotide variant not provided [RCV003846759] Chr16:29987086 [GRCh38]
Chr16:29998407 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1516C>T (p.Leu506=) single nucleotide variant not provided [RCV003848672] Chr16:29985306 [GRCh38]
Chr16:29996627 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2881T>C (p.Ser961Pro) single nucleotide variant not provided [RCV003678958] Chr16:29987153 [GRCh38]
Chr16:29998474 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2976T>G (p.Leu992=) single nucleotide variant not provided [RCV003678959] Chr16:29987248 [GRCh38]
Chr16:29998569 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3253T>C (p.Trp1085Arg) single nucleotide variant not provided [RCV003860532] Chr16:29987525 [GRCh38]
Chr16:29998846 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1374C>T (p.Ala458=) single nucleotide variant not provided [RCV003727381] Chr16:29983616 [GRCh38]
Chr16:29994937 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1206G>A (p.Met402Ile) single nucleotide variant not provided [RCV003682404] Chr16:29983278 [GRCh38]
Chr16:29994599 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.504G>A (p.Gly168=) single nucleotide variant not provided [RCV003706099] Chr16:29979249 [GRCh38]
Chr16:29990570 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2565A>G (p.Val855=) single nucleotide variant not provided [RCV003674671] Chr16:29986837 [GRCh38]
Chr16:29998158 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2276C>T (p.Pro759Leu) single nucleotide variant not provided [RCV003843846] Chr16:29986548 [GRCh38]
Chr16:29997869 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1095C>T (p.Ser365=) single nucleotide variant not provided [RCV003566249] Chr16:29983167 [GRCh38]
Chr16:29994488 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1595G>A (p.Arg532Gln) single nucleotide variant not provided [RCV003821488] Chr16:29985385 [GRCh38]
Chr16:29996706 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3018T>C (p.Leu1006=) single nucleotide variant not provided [RCV003710100] Chr16:29987290 [GRCh38]
Chr16:29998611 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2892C>A (p.Gly964=) single nucleotide variant not provided [RCV003719166] Chr16:29987164 [GRCh38]
Chr16:29998485 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.534T>G (p.Pro178=) single nucleotide variant not provided [RCV003683818] Chr16:29979279 [GRCh38]
Chr16:29990600 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1994A>G (p.Asp665Gly) single nucleotide variant not provided [RCV003685089] Chr16:29986266 [GRCh38]
Chr16:29997587 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1419C>T (p.Ser473=) single nucleotide variant not provided [RCV003676998] Chr16:29983661 [GRCh38]
Chr16:29994982 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.314T>C (p.Met105Thr) single nucleotide variant not provided [RCV003568014] Chr16:29978806 [GRCh38]
Chr16:29990127 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.416T>G (p.Leu139Arg) single nucleotide variant not provided [RCV003568233] Chr16:29979037 [GRCh38]
Chr16:29990358 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.750-16C>A single nucleotide variant not provided [RCV003568236] Chr16:29981843 [GRCh38]
Chr16:29993164 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2957A>C (p.Gln986Pro) single nucleotide variant not provided [RCV003678681] Chr16:29987229 [GRCh38]
Chr16:29998550 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh38/hg38 16p11.2(chr16:29642391-30204353) copy number loss Epilepsy syndrome [RCV003986077] Chr16:29642391..30204353 [GRCh38]
Chr16:16p11.2		 pathogenic|low penetrance
NM_016151.4(TAOK2):c.1460C>A (p.Ala487Glu) single nucleotide variant not provided [RCV003684873] Chr16:29985250 [GRCh38]
Chr16:29996571 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2255C>T (p.Pro752Leu) single nucleotide variant not provided [RCV003866556] Chr16:29986527 [GRCh38]
Chr16:29997848 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2970G>A (p.Leu990=) single nucleotide variant not provided [RCV003732254] Chr16:29987242 [GRCh38]
Chr16:29998563 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.656-6C>G single nucleotide variant not provided [RCV003710999] Chr16:29981655 [GRCh38]
Chr16:29992976 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1843C>T (p.Arg615Trp) single nucleotide variant not provided [RCV003871977] Chr16:29985712 [GRCh38]
Chr16:29997033 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1021C>T (p.Arg341Trp) single nucleotide variant not provided [RCV003565908] Chr16:29983093 [GRCh38]
Chr16:29994414 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.205-14C>T single nucleotide variant not provided [RCV003685415] Chr16:29978238 [GRCh38]
Chr16:29989559 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1993-91_1993-9del deletion not provided [RCV003824059] Chr16:29986167..29986249 [GRCh38]
Chr16:29997488..29997570 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1993-17_1993-16inv inversion not provided [RCV003824060] Chr16:29986248..29986249 [GRCh38]
Chr16:29997569..29997570 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2493T>C (p.His831=) single nucleotide variant not provided [RCV003682045] Chr16:29986765 [GRCh38]
Chr16:29998086 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.307-5C>T single nucleotide variant not provided [RCV003821811] Chr16:29978794 [GRCh38]
Chr16:29990115 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3685C>A (p.Arg1229=) single nucleotide variant not provided [RCV003718960] Chr16:29987957 [GRCh38]
Chr16:29999278 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2896C>T (p.Leu966=) single nucleotide variant not provided [RCV003867103] Chr16:29987168 [GRCh38]
Chr16:29998489 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3429A>G (p.Pro1143=) single nucleotide variant not provided [RCV003870998] Chr16:29987701 [GRCh38]
Chr16:29999022 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1143G>A (p.Glu381=) single nucleotide variant not provided [RCV003820703] Chr16:29983215 [GRCh38]
Chr16:29994536 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.564-14G>T single nucleotide variant not provided [RCV003551780] Chr16:29979403 [GRCh38]
Chr16:29990724 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3194C>T (p.Ala1065Val) single nucleotide variant not provided [RCV003719968] Chr16:29987466 [GRCh38]
Chr16:29998787 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2691C>T (p.Pro897=) single nucleotide variant not provided [RCV003670695] Chr16:29986963 [GRCh38]
Chr16:29998284 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1367G>A (p.Arg456His) single nucleotide variant not provided [RCV003566408] Chr16:29983609 [GRCh38]
Chr16:29994930 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1830C>T (p.Ala610=) single nucleotide variant not provided [RCV003868491] Chr16:29985699 [GRCh38]
Chr16:29997020 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1784A>G (p.Lys595Arg) single nucleotide variant not provided [RCV003867559] Chr16:29985574 [GRCh38]
Chr16:29996895 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3658G>A (p.Gly1220Arg) single nucleotide variant not provided [RCV003738597] Chr16:29987930 [GRCh38]
Chr16:29999251 [GRCh37]
Chr16:16p11.2		 uncertain significance
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
NM_016151.4(TAOK2):c.3462C>T (p.Cys1154=) single nucleotide variant not provided [RCV003870359] Chr16:29987734 [GRCh38]
Chr16:29999055 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.2926T>C (p.Leu976=) single nucleotide variant not provided [RCV003865705] Chr16:29987198 [GRCh38]
Chr16:29998519 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1791G>A (p.Glu597=) single nucleotide variant not provided [RCV003682018] Chr16:29985660 [GRCh38]
Chr16:29996981 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.648C>T (p.Ile216=) single nucleotide variant not provided [RCV003848748] Chr16:29979501 [GRCh38]
Chr16:29990822 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.832-12C>T single nucleotide variant not provided [RCV003865769] Chr16:29982722 [GRCh38]
Chr16:29994043 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.895G>A (p.Asp299Asn) single nucleotide variant not provided [RCV003860853] Chr16:29982797 [GRCh38]
Chr16:29994118 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1960C>T (p.Arg654Trp) single nucleotide variant not provided [RCV003554238] Chr16:29985829 [GRCh38]
Chr16:29997150 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1992+4G>A single nucleotide variant not provided [RCV003564614] Chr16:29985865 [GRCh38]
Chr16:29997186 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1516C>A (p.Leu506Met) single nucleotide variant not provided [RCV003542758] Chr16:29985306 [GRCh38]
Chr16:29996627 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.563+1GTGA[2] microsatellite not provided [RCV003727157] Chr16:29979309..29979312 [GRCh38]
Chr16:29990630..29990633 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1317C>A (p.Leu439=) single nucleotide variant not provided [RCV003729776] Chr16:29983559 [GRCh38]
Chr16:29994880 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.568G>T (p.Ala190Ser) single nucleotide variant not provided [RCV003678608] Chr16:29979421 [GRCh38]
Chr16:29990742 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2610G>C (p.Trp870Cys) single nucleotide variant not provided [RCV003733206] Chr16:29986882 [GRCh38]
Chr16:29998203 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3092G>T (p.Gly1031Val) single nucleotide variant not provided [RCV003553883] Chr16:29987364 [GRCh38]
Chr16:29998685 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2292A>G (p.Pro764=) single nucleotide variant not provided [RCV003554027] Chr16:29986564 [GRCh38]
Chr16:29997885 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3124C>A (p.Pro1042Thr) single nucleotide variant not provided [RCV003866545] Chr16:29987396 [GRCh38]
Chr16:29998717 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1023G>C (p.Arg341=) single nucleotide variant not provided [RCV003821613] Chr16:29983095 [GRCh38]
Chr16:29994416 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.1304C>A (p.Thr435Asn) single nucleotide variant not provided [RCV003728934] Chr16:29983546 [GRCh38]
Chr16:29994867 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2117C>T (p.Thr706Ile) single nucleotide variant not provided [RCV003845384] Chr16:29986389 [GRCh38]
Chr16:29997710 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:29428532-30190029)x1 copy number loss See cases [RCV004442849] Chr16:29428532..30190029 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:29591327-30190029)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_016151.4(TAOK2):c.2736G>C (p.Gly912=) single nucleotide variant TAOK2-related condition [RCV003961450] Chr16:29987008 [GRCh38]
Chr16:29998329 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004783.4(TAOK2):c.2775T>C (p.Ala925=) single nucleotide variant TAOK2-related condition [RCV003911884] Chr16:29991193 [GRCh38]
Chr16:30002514 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004783.4(TAOK2):c.2391G>A (p.Ala797=) single nucleotide variant TAOK2-related condition [RCV003969195] Chr16:29989751 [GRCh38]
Chr16:30001072 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.353-3C>T single nucleotide variant TAOK2-related condition [RCV003981795] Chr16:29978971 [GRCh38]
Chr16:29990292 [GRCh37]
Chr16:16p11.2		 likely benign
NM_016151.4(TAOK2):c.3325C>A (p.Arg1109=) single nucleotide variant TAOK2-related condition [RCV003934771] Chr16:29987597 [GRCh38]
Chr16:29998918 [GRCh37]
Chr16:16p11.2		 likely benign
GRCh37/hg19 16p11.2(chr16:29495010-30200397)x1 copy number loss not provided [RCV003885480] Chr16:29495010..30200397 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004783.4(TAOK2):c.2580G>A (p.Arg860=) single nucleotide variant TAOK2-related condition [RCV003951609] Chr16:29990918 [GRCh38]
Chr16:30002239 [GRCh37]
Chr16:16p11.2		 likely benign
GRCh37/hg19 16p11.2(chr16:29472703-30256894)x1 copy number loss not provided [RCV003885479] Chr16:29472703..30256894 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_004783.4(TAOK2):c.2938A>T (p.Asn980Tyr) single nucleotide variant TAOK2-related condition [RCV003961811] Chr16:29991356 [GRCh38]
Chr16:30002677 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004783.4(TAOK2):c.2724G>A (p.Ala908=) single nucleotide variant TAOK2-related condition [RCV003961786] Chr16:29991142 [GRCh38]
Chr16:30002463 [GRCh37]
Chr16:16p11.2		 benign
NM_004783.4(TAOK2):c.3108C>T (p.Val1036=) single nucleotide variant TAOK2-related condition [RCV003961763] Chr16:29991526 [GRCh38]
Chr16:30002847 [GRCh37]
Chr16:16p11.2		 benign
NM_004783.4(TAOK2):c.3135C>T (p.Ser1045=) single nucleotide variant TAOK2-related condition [RCV003894221] Chr16:29991553 [GRCh38]
Chr16:30002874 [GRCh37]
Chr16:16p11.2		 likely benign
NM_004783.4(TAOK2):c.2446-6C>T single nucleotide variant TAOK2-related condition [RCV003909589] Chr16:29990778 [GRCh38]
Chr16:30002099 [GRCh37]
Chr16:16p11.2		 likely benign
GRCh37/hg19 16p11.2(chr16:29412503-30190029)x3 copy number gain See cases [RCV004442751] Chr16:29412503..30190029 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2974C>A (p.Leu992Ile) single nucleotide variant not specified [RCV004469089] Chr16:29987246 [GRCh38]
Chr16:29998567 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3206G>C (p.Trp1069Ser) single nucleotide variant not specified [RCV004469091] Chr16:29987478 [GRCh38]
Chr16:29998799 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.811A>G (p.Thr271Ala) single nucleotide variant not specified [RCV004469096] Chr16:29981920 [GRCh38]
Chr16:29993241 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1376A>T (p.Tyr459Phe) single nucleotide variant not specified [RCV004469084] Chr16:29983618 [GRCh38]
Chr16:29994939 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1873G>C (p.Ala625Pro) single nucleotide variant not specified [RCV004469085] Chr16:29985742 [GRCh38]
Chr16:29997063 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3694C>T (p.Pro1232Ser) single nucleotide variant not specified [RCV004469094] Chr16:29987966 [GRCh38]
Chr16:29999287 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.1291C>G (p.Gln431Glu) single nucleotide variant not specified [RCV004469083] Chr16:29983533 [GRCh38]
Chr16:29994854 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2251C>G (p.Pro751Ala) single nucleotide variant not specified [RCV004469086] Chr16:29986523 [GRCh38]
Chr16:29997844 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.2308C>T (p.Pro770Ser) single nucleotide variant not specified [RCV004469087] Chr16:29986580 [GRCh38]
Chr16:29997901 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3067G>A (p.Gly1023Ser) single nucleotide variant not specified [RCV004469090] Chr16:29987339 [GRCh38]
Chr16:29998660 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3325C>T (p.Arg1109Trp) single nucleotide variant not specified [RCV004469092] Chr16:29987597 [GRCh38]
Chr16:29998918 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_016151.4(TAOK2):c.3698C>T (p.Pro1233Leu) single nucleotide variant not specified [RCV004469095] Chr16:29987970 [GRCh38]
Chr16:29999291 [GRCh37]
Chr16:16p11.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2296
Count of miRNA genes:798
Interacting mature miRNAs:933
Transcripts:ENST00000279394, ENST00000308893, ENST00000416441, ENST00000543033, ENST00000566552, ENST00000570844
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
RH99036  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371630,003,738 - 30,003,908UniSTSGRCh37
Build 361629,911,239 - 29,911,409RGDNCBI36
Celera1672,791,813 - 72,791,985RGD
Cytogenetic Map16p11.2UniSTS
HuRef1627,664,751 - 27,664,923UniSTS
RH103031  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371629,999,391 - 29,999,550UniSTSGRCh37
Build 361629,906,892 - 29,907,051RGDNCBI36
Celera1672,796,173 - 72,796,332RGD
Cytogenetic Map16p11.2UniSTS
HuRef1627,660,404 - 27,660,563UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2400 2356 1424 329 1515 172 3928 1612 3374 361 1438 1590 170 1204 2364 4
Low 38 635 302 295 432 293 429 585 360 58 22 23 5 1 424 2 2
Below cutoff 4

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_030462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001252043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001752034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001752035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001752036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_950873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB020688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC243947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC244166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF061943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF263313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI805725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC054495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC142663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC151221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC152413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP233788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN286840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000279394   ⟹   ENSP00000279394
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1629,974,281 - 29,992,261 (+)Ensembl
RefSeq Acc Id: ENST00000308893   ⟹   ENSP00000310094
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1629,973,868 - 29,988,393 (+)Ensembl
RefSeq Acc Id: ENST00000416441   ⟹   ENSP00000393048
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1629,980,352 - 29,988,398 (+)Ensembl
RefSeq Acc Id: ENST00000543033   ⟹   ENSP00000440336
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1629,974,182 - 29,988,181 (+)Ensembl
RefSeq Acc Id: ENST00000566552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1629,985,118 - 29,987,971 (+)Ensembl
RefSeq Acc Id: ENST00000570844
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1629,989,910 - 29,991,710 (+)Ensembl
RefSeq Acc Id: NM_001252043   ⟹   NP_001238972
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381629,973,868 - 29,988,393 (+)NCBI
GRCh371629,985,188 - 30,003,583 (+)NCBI
HuRef1627,646,198 - 27,664,595 (+)NCBI
CHM1_11631,200,977 - 31,215,515 (+)NCBI
T2T-CHM13v2.01630,256,503 - 30,271,031 (+)NCBI
Sequence:
RefSeq Acc Id: NM_004783   ⟹   NP_004774
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381629,973,868 - 29,992,261 (+)NCBI
GRCh371629,985,188 - 30,003,583 (+)NCBI
Build 361629,892,723 - 29,911,082 (+)NCBI Archive
Celera1672,792,142 - 72,810,504 (-)RGD
HuRef1627,646,198 - 27,664,595 (+)NCBI
CHM1_11631,200,977 - 31,219,371 (+)NCBI
T2T-CHM13v2.01630,256,503 - 30,274,899 (+)NCBI
Sequence:
RefSeq Acc Id: NM_016151   ⟹   NP_057235
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381629,973,868 - 29,988,393 (+)NCBI
GRCh371629,985,188 - 30,003,583 (+)NCBI
Build 361629,892,723 - 29,907,220 (+)NCBI Archive
Celera1672,792,142 - 72,810,504 (-)RGD
HuRef1627,646,198 - 27,664,595 (+)NCBI
CHM1_11631,200,977 - 31,215,515 (+)NCBI
T2T-CHM13v2.01630,256,503 - 30,271,031 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545982   ⟹   XP_011544284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381629,973,868 - 29,988,393 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545983   ⟹   XP_011544285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381629,973,868 - 29,988,393 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545984   ⟹   XP_011544286
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381629,973,868 - 29,992,261 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545985   ⟹   XP_011544287
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381629,973,868 - 29,992,261 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545986   ⟹   XP_011544288
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381629,973,868 - 29,990,754 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047434917   ⟹   XP_047290873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381629,973,868 - 29,990,876 (+)NCBI
RefSeq Acc Id: XM_047434918   ⟹   XP_047290874
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381629,973,868 - 29,990,753 (+)NCBI
RefSeq Acc Id: XM_047434919   ⟹   XP_047290875
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381629,973,868 - 29,989,460 (+)NCBI
RefSeq Acc Id: XM_047434920   ⟹   XP_047290876
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381629,973,868 - 29,989,460 (+)NCBI
RefSeq Acc Id: XM_047434921   ⟹   XP_047290877
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381629,973,868 - 29,989,460 (+)NCBI
RefSeq Acc Id: XM_047434922   ⟹   XP_047290878
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381629,973,868 - 29,989,460 (+)NCBI
RefSeq Acc Id: XM_054314416   ⟹   XP_054170391
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01630,256,503 - 30,271,031 (+)NCBI
RefSeq Acc Id: XM_054314417   ⟹   XP_054170392
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01630,256,503 - 30,271,031 (+)NCBI
RefSeq Acc Id: XM_054314418   ⟹   XP_054170393
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01630,256,503 - 30,274,899 (+)NCBI
RefSeq Acc Id: XM_054314419   ⟹   XP_054170394
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01630,256,503 - 30,274,899 (+)NCBI
RefSeq Acc Id: XM_054314420   ⟹   XP_054170395
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01630,256,503 - 30,273,392 (+)NCBI
RefSeq Acc Id: XM_054314421   ⟹   XP_054170396
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01630,256,503 - 30,273,514 (+)NCBI
RefSeq Acc Id: XM_054314422   ⟹   XP_054170397
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01630,256,503 - 30,273,391 (+)NCBI
RefSeq Acc Id: XM_054314423   ⟹   XP_054170398
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01630,256,503 - 30,271,088 (+)NCBI
RefSeq Acc Id: XM_054314424   ⟹   XP_054170399
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01630,256,503 - 30,271,088 (+)NCBI
RefSeq Acc Id: XM_054314425   ⟹   XP_054170400
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01630,256,503 - 30,271,088 (+)NCBI
RefSeq Acc Id: XM_054314426   ⟹   XP_054170401
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01630,256,503 - 30,272,098 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001238972 (Get FASTA)   NCBI Sequence Viewer  
  NP_004774 (Get FASTA)   NCBI Sequence Viewer  
  NP_057235 (Get FASTA)   NCBI Sequence Viewer  
  XP_011544284 (Get FASTA)   NCBI Sequence Viewer  
  XP_011544285 (Get FASTA)   NCBI Sequence Viewer  
  XP_011544286 (Get FASTA)   NCBI Sequence Viewer  
  XP_011544287 (Get FASTA)   NCBI Sequence Viewer  
  XP_011544288 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290873 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290874 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290875 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290876 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290877 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290878 (Get FASTA)   NCBI Sequence Viewer  
  XP_054170391 (Get FASTA)   NCBI Sequence Viewer  
  XP_054170392 (Get FASTA)   NCBI Sequence Viewer  
  XP_054170393 (Get FASTA)   NCBI Sequence Viewer  
  XP_054170394 (Get FASTA)   NCBI Sequence Viewer  
  XP_054170395 (Get FASTA)   NCBI Sequence Viewer  
  XP_054170396 (Get FASTA)   NCBI Sequence Viewer  
  XP_054170397 (Get FASTA)   NCBI Sequence Viewer  
  XP_054170398 (Get FASTA)   NCBI Sequence Viewer  
  XP_054170399 (Get FASTA)   NCBI Sequence Viewer  
  XP_054170400 (Get FASTA)   NCBI Sequence Viewer  
  XP_054170401 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD45616 (Get FASTA)   NCBI Sequence Viewer  
  AAG38503 (Get FASTA)   NCBI Sequence Viewer  
  AAH15204 (Get FASTA)   NCBI Sequence Viewer  
  AAH31825 (Get FASTA)   NCBI Sequence Viewer  
  AAH51798 (Get FASTA)   NCBI Sequence Viewer  
  AAI36654 (Get FASTA)   NCBI Sequence Viewer  
  AAI36656 (Get FASTA)   NCBI Sequence Viewer  
  AAI42664 (Get FASTA)   NCBI Sequence Viewer  
  AAI44345 (Get FASTA)   NCBI Sequence Viewer  
  AAI51222 (Get FASTA)   NCBI Sequence Viewer  
  AAI52414 (Get FASTA)   NCBI Sequence Viewer  
  AAQ89301 (Get FASTA)   NCBI Sequence Viewer  
  BAA74904 (Get FASTA)   NCBI Sequence Viewer  
  BAF84162 (Get FASTA)   NCBI Sequence Viewer  
  BAG65265 (Get FASTA)   NCBI Sequence Viewer  
  CAB70882 (Get FASTA)   NCBI Sequence Viewer  
  EAW79963 (Get FASTA)   NCBI Sequence Viewer  
  EAW79964 (Get FASTA)   NCBI Sequence Viewer  
  EAW79965 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000279394
  ENSP00000279394.3
  ENSP00000310094
  ENSP00000310094.4
  ENSP00000393048.2
  ENSP00000440336
  ENSP00000440336.1
GenBank Protein Q9UL54 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_004774   ⟸   NM_004783
- Peptide Label: isoform 2
- UniProtKB: Q9UL54 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_057235   ⟸   NM_016151
- Peptide Label: isoform 1
- UniProtKB: Q7LC09 (UniProtKB/Swiss-Prot),   Q6UW73 (UniProtKB/Swiss-Prot),   O94957 (UniProtKB/Swiss-Prot),   B7ZM88 (UniProtKB/Swiss-Prot),   B2RN35 (UniProtKB/Swiss-Prot),   A7MCZ2 (UniProtKB/Swiss-Prot),   A5PKY1 (UniProtKB/Swiss-Prot),   Q9NSW2 (UniProtKB/Swiss-Prot),   Q9UL54 (UniProtKB/Swiss-Prot),   Q86V37 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001238972   ⟸   NM_001252043
- Peptide Label: isoform 3
- UniProtKB: Q9UL54 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011544286   ⟸   XM_011545984
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011544287   ⟸   XM_011545985
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011544288   ⟸   XM_011545986
- Peptide Label: isoform X5
- UniProtKB: A0PJ48 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011544284   ⟸   XM_011545982
- Peptide Label: isoform X1
- UniProtKB: Q86V37 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011544285   ⟸   XM_011545983
- Peptide Label: isoform X2
- UniProtKB: Q86V37 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000440336   ⟸   ENST00000543033
RefSeq Acc Id: ENSP00000310094   ⟸   ENST00000308893
RefSeq Acc Id: ENSP00000393048   ⟸   ENST00000416441
RefSeq Acc Id: ENSP00000279394   ⟸   ENST00000279394
RefSeq Acc Id: XP_047290873   ⟸   XM_047434917
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047290874   ⟸   XM_047434918
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047290875   ⟸   XM_047434919
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047290878   ⟸   XM_047434922
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047290876   ⟸   XM_047434920
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047290877   ⟸   XM_047434921
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054170393   ⟸   XM_054314418
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054170394   ⟸   XM_054314419
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054170396   ⟸   XM_054314421
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054170395   ⟸   XM_054314420
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054170397   ⟸   XM_054314422
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054170401   ⟸   XM_054314426
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054170398   ⟸   XM_054314423
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054170399   ⟸   XM_054314424
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054170400   ⟸   XM_054314425
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054170391   ⟸   XM_054314416
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054170392   ⟸   XM_054314417
- Peptide Label: isoform X2
Protein Domains
Protein kinase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UL54-F1-model_v2 AlphaFold Q9UL54 1-1235 view protein structure

Promoters
RGD ID:6793494
Promoter ID:HG_KWN:23489
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_016151,   OTTHUMT00000255151,   UC002DVB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361629,892,221 - 29,893,417 (+)MPROMDB
RGD ID:7231883
Promoter ID:EPDNEW_H21688
Type:initiation region
Name:TAOK2_2
Description:TAO kinase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21689  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381629,971,412 - 29,971,472EPDNEW
RGD ID:7231885
Promoter ID:EPDNEW_H21689
Type:initiation region
Name:TAOK2_1
Description:TAO kinase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21688  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381629,973,872 - 29,973,932EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16835 AgrOrtholog
COSMIC TAOK2 COSMIC
Ensembl Genes ENSG00000149930 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000279394 ENTREZGENE
  ENST00000279394.7 UniProtKB/Swiss-Prot
  ENST00000308893 ENTREZGENE
  ENST00000308893.9 UniProtKB/Swiss-Prot
  ENST00000416441.2 UniProtKB/Swiss-Prot
  ENST00000543033 ENTREZGENE
  ENST00000543033.5 UniProtKB/Swiss-Prot
Gene3D-CATH Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000149930 GTEx
HGNC ID HGNC:16835 ENTREZGENE
Human Proteome Map TAOK2 Human Proteome Map
InterPro Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser/Thr_kinase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9344 UniProtKB/Swiss-Prot
NCBI Gene 9344 ENTREZGENE
OMIM 613199 OMIM
PANTHER SERINE/THREONINE-PROTEIN KINASE TAO1-LIKE PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SERINE/THREONINE-PROTEIN KINASE TAO2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Pkinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134907964 PharmGKB
PROSITE PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_ST UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART S_TKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0PJ48 ENTREZGENE, UniProtKB/TrEMBL
  A5PKY1 ENTREZGENE
  A7MCZ2 ENTREZGENE
  B2RN35 ENTREZGENE
  B7ZM88 ENTREZGENE
  O94957 ENTREZGENE
  Q6PIN8_HUMAN UniProtKB/TrEMBL
  Q6UW73 ENTREZGENE
  Q7LC09 ENTREZGENE
  Q86V37 ENTREZGENE, UniProtKB/TrEMBL
  Q9NSW2 ENTREZGENE
  Q9UL54 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A5PKY1 UniProtKB/Swiss-Prot
  A7MCZ2 UniProtKB/Swiss-Prot
  B2RN35 UniProtKB/Swiss-Prot
  B7ZM88 UniProtKB/Swiss-Prot
  O94957 UniProtKB/Swiss-Prot
  Q6UW73 UniProtKB/Swiss-Prot
  Q7LC09 UniProtKB/Swiss-Prot
  Q9NSW2 UniProtKB/Swiss-Prot