ZBTB18 (zinc finger and BTB domain containing 18) - Rat Genome Database

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Gene: ZBTB18 (zinc finger and BTB domain containing 18) Homo sapiens
Analyze
Symbol: ZBTB18
Name: zinc finger and BTB domain containing 18
RGD ID: 1346592
HGNC Page HGNC:13030
Description: Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and sequence-specific double-stranded DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II and positive regulation of transcription by RNA polymerase II. Located in nuclear speck. Part of heterochromatin. Implicated in autosomal dominant intellectual developmental disorder 22.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 58 kDa repressor protein; C1DELq42q44; C1DELq43q44; C2H2-171; DEL1Q42Q44; DEL1Q43Q44; MRD22; RP58; TAZ-1; transcriptional repressor RP58; translin-associated zinc finger protein 1; zinc finger and BTB domain-containing protein 18; zinc finger protein 238; zinc finger protein C2H2-171; ZNF238
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381244,048,491 - 244,057,476 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1244,048,547 - 244,057,476 (+)EnsemblGRCh38hg38GRCh38
GRCh371244,211,955 - 244,220,778 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361242,281,184 - 242,287,401 (+)NCBINCBI36Build 36hg18NCBI36
Build 341240,540,625 - 240,546,817NCBI
Celera1217,504,910 - 217,511,127 (+)NCBICelera
Cytogenetic Map1q44NCBI
HuRef1214,598,471 - 214,604,688 (+)NCBIHuRef
CHM1_11245,484,555 - 245,493,088 (+)NCBICHM1_1
T2T-CHM13v2.01243,465,054 - 243,473,966 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
heterochromatin  (IDA)
nuclear speck  (IDA)
nucleoplasm  (IDA)
nucleus  (IBA,IDA,IEA,TAS)

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:7566098   PMID:7633419   PMID:9568537   PMID:9756912   PMID:9770450   PMID:10721697   PMID:11350943   PMID:12477932   PMID:15146197   PMID:15489334   PMID:15616584   PMID:16710414  
PMID:19274049   PMID:19322201   PMID:20059953   PMID:20103640   PMID:20936779   PMID:21873635   PMID:21988832   PMID:22095278   PMID:24035498   PMID:24193349   PMID:24722188   PMID:25416956  
PMID:25796446   PMID:25817480   PMID:27598823   PMID:27609421   PMID:28283832   PMID:28345786   PMID:28473536   PMID:28512252   PMID:28514442   PMID:30945288   PMID:31112317   PMID:32296183  
PMID:32598555   PMID:32971103   PMID:33357126   PMID:33608456   PMID:33621064   PMID:33892786   PMID:33961781   PMID:35083747   PMID:35800763   PMID:36414381   PMID:37525067  


Genomics

Comparative Map Data
ZBTB18
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381244,048,491 - 244,057,476 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1244,048,547 - 244,057,476 (+)EnsemblGRCh38hg38GRCh38
GRCh371244,211,955 - 244,220,778 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361242,281,184 - 242,287,401 (+)NCBINCBI36Build 36hg18NCBI36
Build 341240,540,625 - 240,546,817NCBI
Celera1217,504,910 - 217,511,127 (+)NCBICelera
Cytogenetic Map1q44NCBI
HuRef1214,598,471 - 214,604,688 (+)NCBIHuRef
CHM1_11245,484,555 - 245,493,088 (+)NCBICHM1_1
T2T-CHM13v2.01243,465,054 - 243,473,966 (+)NCBIT2T-CHM13v2.0
Zbtb18
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391177,269,892 - 177,278,330 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1177,269,917 - 177,278,330 (+)EnsemblGRCm39 Ensembl
GRCm381177,442,351 - 177,450,764 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1177,442,351 - 177,450,764 (+)EnsemblGRCm38mm10GRCm38
MGSCv371179,374,792 - 179,380,895 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361179,281,336 - 179,287,439 (+)NCBIMGSCv36mm8
Celera1184,508,151 - 184,514,258 (+)NCBICelera
Cytogenetic Map1H4NCBI
cM Map182.72NCBI
Zbtb18
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81391,971,602 - 91,980,058 (+)NCBIGRCr8
mRatBN7.21389,439,501 - 89,447,958 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1389,439,420 - 89,448,862 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1391,944,737 - 91,953,193 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01393,344,946 - 93,353,402 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01390,525,391 - 90,533,843 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01395,582,234 - 95,593,316 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1395,589,668 - 95,591,236 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.013100,031,993 - 100,039,682 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41393,345,905 - 93,347,473 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11393,534,788 - 93,536,357 (+)NCBI
Celera1389,005,808 - 89,007,376 (+)NCBICelera
Cytogenetic Map13q25NCBI
Zbtb18
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554067,364,080 - 7,373,483 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554067,364,080 - 7,372,038 (+)NCBIChiLan1.0ChiLan1.0
ZBTB18
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v215,082,670 - 5,091,312 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan115,304,714 - 5,313,352 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01219,660,496 - 219,669,134 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11225,042,282 - 225,050,259 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1225,042,281 - 225,050,259 (+)Ensemblpanpan1.1panPan2
ZBTB18
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1735,123,417 - 35,130,349 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl735,117,209 - 35,129,134 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha734,597,536 - 34,605,025 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0734,950,266 - 34,957,787 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl734,857,686 - 34,958,027 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1734,787,410 - 34,794,904 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0734,803,630 - 34,811,140 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0735,068,175 - 35,075,704 (+)NCBIUU_Cfam_GSD_1.0
Zbtb18
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934448,033,306 - 48,041,262 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365266,705,983 - 6,712,281 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365266,706,035 - 6,714,011 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ZBTB18
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1016,913,025 - 16,920,586 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11016,913,022 - 16,921,722 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21019,351,349 - 19,359,708 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ZBTB18
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12581,077,011 - 81,085,049 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605583,261,294 - 83,270,100 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Zbtb18
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477115,425,604 - 15,430,542 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477115,425,610 - 15,432,012 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ZBTB18
201 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_205768.3(ZBTB18):c.397G>T (p.Glu133Ter) single nucleotide variant Intellectual disability, autosomal dominant 22 [RCV000074444] Chr1:244054171 [GRCh38]
Chr1:244217473 [GRCh37]
Chr1:1q44		 pathogenic
GRCh38/hg38 1q44(chr1:243677224-244923447)x1 copy number loss See cases [RCV000050929] Chr1:243677224..244923447 [GRCh38]
Chr1:243840526..245086749 [GRCh37]
Chr1:241907149..243153372 [NCBI36]
Chr1:1q44		 pathogenic
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3 copy number gain See cases [RCV000050581] Chr1:223347693..248918469 [GRCh38]
Chr1:223521035..249212668 [GRCh37]
Chr1:221587658..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|See cases [RCV000051875] Chr1:221902539..248918469 [GRCh38]
Chr1:222075881..249212668 [GRCh37]
Chr1:220142504..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3 copy number gain See cases [RCV000051878] Chr1:223828500..248891309 [GRCh38]
Chr1:224016202..249185508 [GRCh37]
Chr1:222082825..247152131 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3 copy number gain See cases [RCV000051880] Chr1:223887780..248891309 [GRCh38]
Chr1:224075482..249185508 [GRCh37]
Chr1:222142105..247152131 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3 copy number gain See cases [RCV000051882] Chr1:224096488..248918469 [GRCh38]
Chr1:224284190..249212668 [GRCh37]
Chr1:222350813..247179291 [NCBI36]
Chr1:1q42.11-44		 pathogenic
GRCh38/hg38 1q42.3-44(chr1:236237049-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051883]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051883]|See cases [RCV000051883] Chr1:236237049..248918469 [GRCh38]
Chr1:236400349..249212668 [GRCh37]
Chr1:234466972..247179291 [NCBI36]
Chr1:1q42.3-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:239657468-248918610)x3 copy number gain See cases [RCV000051886] Chr1:239657468..248918610 [GRCh38]
Chr1:239820768..249212809 [GRCh37]
Chr1:237887391..247179432 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:240244444-248891309)x3 copy number gain See cases [RCV000051888] Chr1:240244444..248891309 [GRCh38]
Chr1:240407744..249185508 [GRCh37]
Chr1:238474367..247152131 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:242828731-248891309)x3 copy number gain See cases [RCV000053504] Chr1:242828731..248891309 [GRCh38]
Chr1:242992033..249185508 [GRCh37]
Chr1:241058656..247152131 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:243055227-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053506]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053506]|See cases [RCV000053506] Chr1:243055227..248918469 [GRCh38]
Chr1:243218529..249212668 [GRCh37]
Chr1:241285152..247179291 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q42.2-44(chr1:232097468-248918610)x1 copy number loss See cases [RCV000053985] Chr1:232097468..248918610 [GRCh38]
Chr1:232233214..249212809 [GRCh37]
Chr1:230299837..247179432 [NCBI36]
Chr1:1q42.2-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:237041745-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053989]|See cases [RCV000053989] Chr1:237041745..248918469 [GRCh38]
Chr1:237205045..249212668 [GRCh37]
Chr1:235271668..247179291 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:238061020-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053991]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053991]|See cases [RCV000053991] Chr1:238061020..248918469 [GRCh38]
Chr1:238224320..249212668 [GRCh37]
Chr1:236290943..247179291 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:239496961-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053993]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053993]|See cases [RCV000053993] Chr1:239496961..248918469 [GRCh38]
Chr1:239660261..249212668 [GRCh37]
Chr1:237726884..247179291 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:239558430-248918469)x1 copy number loss See cases [RCV000054023] Chr1:239558430..248918469 [GRCh38]
Chr1:239721730..249212668 [GRCh37]
Chr1:237788353..247179291 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:239629868-248924593)x1 copy number loss See cases [RCV000054024] Chr1:239629868..248924593 [GRCh38]
Chr1:239793168..249218792 [GRCh37]
Chr1:237859791..247185415 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:241047422-248924593)x1 copy number loss See cases [RCV000054025] Chr1:241047422..248924593 [GRCh38]
Chr1:241210722..249218792 [GRCh37]
Chr1:239277345..247185415 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:241459440-247704671)x1 copy number loss See cases [RCV000054026] Chr1:241459440..247704671 [GRCh38]
Chr1:241622740..247867973 [GRCh37]
Chr1:239689363..245934596 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:241676908-245647727)x1 copy number loss See cases [RCV000054027] Chr1:241676908..245647727 [GRCh38]
Chr1:241840210..245811029 [GRCh37]
Chr1:239906833..243877652 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:241757249-248891309)x1 copy number loss See cases [RCV000054028] Chr1:241757249..248891309 [GRCh38]
Chr1:241920551..249185508 [GRCh37]
Chr1:239987174..247152131 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:242076868-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054029]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054029]|See cases [RCV000054029] Chr1:242076868..248918469 [GRCh38]
Chr1:242240170..249212668 [GRCh37]
Chr1:240306793..247179291 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:242240797-245200164)x1 copy number loss See cases [RCV000054030] Chr1:242240797..245200164 [GRCh38]
Chr1:242404099..245363466 [GRCh37]
Chr1:240470722..243430089 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:242410569-245413313)x1 copy number loss See cases [RCV000054031] Chr1:242410569..245413313 [GRCh38]
Chr1:242573871..245576615 [GRCh37]
Chr1:240640494..243643238 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:243225391-245289313)x1 copy number loss See cases [RCV000054032] Chr1:243225391..245289313 [GRCh38]
Chr1:243388693..245452615 [GRCh37]
Chr1:241455316..243519238 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q44(chr1:243786629-248918469)x1 copy number loss See cases [RCV000054061] Chr1:243786629..248918469 [GRCh38]
Chr1:243949931..249212668 [GRCh37]
Chr1:242016554..247179291 [NCBI36]
Chr1:1q44		 pathogenic
NM_006352.4(ZBTB18):c.760C>T (p.Leu254=) single nucleotide variant Malignant melanoma [RCV000064616] Chr1:244054561 [GRCh38]
Chr1:244217863 [GRCh37]
Chr1:242284486 [NCBI36]
Chr1:1q44		 not provided
NM_205768.3(ZBTB18):c.1444C>T (p.Arg482Cys) single nucleotide variant Intellectual disability, autosomal dominant 22 [RCV000660628] Chr1:244055218 [GRCh38]
Chr1:244218520 [GRCh37]
Chr1:1q44		 pathogenic
GRCh37/hg19 1q42.2-44(chr1:233012994-249206918)x1 copy number loss See cases [RCV002292708] Chr1:233012994..249206918 [GRCh37]
Chr1:1q42.2-44		 pathogenic
NM_205768.3(ZBTB18):c.1372T>C (p.Tyr458His) single nucleotide variant not provided [RCV002287989] Chr1:244055146 [GRCh38]
Chr1:244218448 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.1382A>G (p.Asn461Ser) single nucleotide variant Inborn genetic diseases [RCV000190707]|Intellectual disability [RCV001251046]|Intellectual disability, autosomal dominant 22 [RCV000509044] Chr1:244055156 [GRCh38]
Chr1:244218458 [GRCh37]
Chr1:1q44		 pathogenic|likely pathogenic
NM_205768.3(ZBTB18):c.1183C>T (p.Gln395Ter) single nucleotide variant Inborn genetic diseases [RCV000211094]|Intellectual disability, autosomal dominant 22 [RCV000509045] Chr1:244054957 [GRCh38]
Chr1:244218259 [GRCh37]
Chr1:1q44		 pathogenic|likely pathogenic
NM_205768.3(ZBTB18):c.1118del (p.Ser373fs) deletion Inborn genetic diseases [RCV000211111] Chr1:244054892 [GRCh38]
Chr1:244218194 [GRCh37]
Chr1:1q44		 likely pathogenic
GRCh38/hg38 1q43-44(chr1:238753749-248918467)x1 copy number loss See cases [RCV000134751] Chr1:238753749..248918467 [GRCh38]
Chr1:238917049..249212666 [GRCh37]
Chr1:236983672..247179289 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:238351121-248918469)x1 copy number loss See cases [RCV000134172] Chr1:238351121..248918469 [GRCh38]
Chr1:238514421..249212668 [GRCh37]
Chr1:236581044..247179291 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:243264192-244668463)x1 copy number loss See cases [RCV000134045] Chr1:243264192..244668463 [GRCh38]
Chr1:243427494..244831765 [GRCh37]
Chr1:241494117..242898388 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3 copy number gain See cases [RCV000135839] Chr1:223815147..248918469 [GRCh38]
Chr1:224002849..249212668 [GRCh37]
Chr1:222069472..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:241625115-245453782)x3 copy number gain See cases [RCV000136503] Chr1:241625115..245453782 [GRCh38]
Chr1:241788417..245617084 [GRCh37]
Chr1:239855040..243683707 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3 copy number gain See cases [RCV000136666] Chr1:229022909..248918469 [GRCh38]
Chr1:229158656..249212668 [GRCh37]
Chr1:227225279..247179291 [NCBI36]
Chr1:1q42.13-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1 copy number loss See cases [RCV000137554] Chr1:236556082..248918469 [GRCh38]
Chr1:236719382..249212668 [GRCh37]
Chr1:234786005..247179291 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:242932576-248864636)x4 copy number gain See cases [RCV000137155] Chr1:242932576..248864636 [GRCh38]
Chr1:243095878..249158835 [GRCh37]
Chr1:241162501..247125458 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:240465122-248918469)x1 copy number loss See cases [RCV000137260] Chr1:240465122..248918469 [GRCh38]
Chr1:240628422..249212668 [GRCh37]
Chr1:238695045..247179291 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3 copy number gain See cases [RCV000137769] Chr1:224022862..248918469 [GRCh38]
Chr1:224210564..249212668 [GRCh37]
Chr1:222277187..247179291 [NCBI36]
Chr1:1q42.11-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:241967139-245542967)x3 copy number gain See cases [RCV000138233] Chr1:241967139..245542967 [GRCh38]
Chr1:242130441..245706269 [GRCh37]
Chr1:240197064..243772892 [NCBI36]
Chr1:1q43-44		 likely pathogenic
GRCh38/hg38 1q43-44(chr1:242782194-245138126)x3 copy number gain See cases [RCV000140438] Chr1:242782194..245138126 [GRCh38]
Chr1:242945496..245301428 [GRCh37]
Chr1:241012119..243368051 [NCBI36]
Chr1:1q43-44		 uncertain significance
GRCh38/hg38 1q43-44(chr1:242045279-248930485)x1 copy number loss See cases [RCV000139889] Chr1:242045279..248930485 [GRCh38]
Chr1:242208581..249224684 [GRCh37]
Chr1:240275204..247191307 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1 copy number loss See cases [RCV000140039] Chr1:238033575..248924534 [GRCh38]
Chr1:238196875..249218733 [GRCh37]
Chr1:236263498..247185356 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3 copy number gain See cases [RCV000142448] Chr1:225438480..248787200 [GRCh38]
Chr1:225626182..249060210 [GRCh37]
Chr1:223692805..247048022 [NCBI36]
Chr1:1q42.12-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:243145749-244433395)x1 copy number loss See cases [RCV000142668] Chr1:243145749..244433395 [GRCh38]
Chr1:243309051..244596697 [GRCh37]
Chr1:241375674..242663320 [NCBI36]
Chr1:1q43-44		 pathogenic|likely benign|uncertain significance
GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1 copy number loss See cases [RCV000142518] Chr1:237643281..248918469 [GRCh38]
Chr1:237806581..249212668 [GRCh37]
Chr1:235873204..247179291 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1 copy number loss See cases [RCV000143374] Chr1:238192880..248930485 [GRCh38]
Chr1:238356180..249224684 [GRCh37]
Chr1:236422803..247191307 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh37/hg19 1q44(chr1:244138107-244509450)x3 copy number gain See cases [RCV000240158] Chr1:244138107..244509450 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.160T>C (p.Cys54Arg) single nucleotide variant Intellectual disability, autosomal dominant 22 [RCV000209846]|not provided [RCV002292491] Chr1:244053934 [GRCh38]
Chr1:244217236 [GRCh37]
Chr1:1q44		 likely pathogenic|uncertain significance
Single allele deletion Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 [RCV000235042] Chr1:242100310..244396371 [GRCh38]
Chr1:242263612..244559673 [GRCh37]
Chr1:1q43-44		 pathogenic
GRCh37/hg19 1q42.2-44(chr1:234050864-249213059)x3 copy number gain See cases [RCV000240034] Chr1:234050864..249213059 [GRCh37]
Chr1:1q42.2-44		 pathogenic
GRCh37/hg19 1q43-44(chr1:242324398-249224684)x4 copy number gain See cases [RCV000511337] Chr1:242324398..249224684 [GRCh37]
Chr1:1q43-44		 likely pathogenic
NM_205768.3(ZBTB18):c.1265C>A (p.Ser422Ter) single nucleotide variant Inborn genetic diseases [RCV000623050] Chr1:244055039 [GRCh38]
Chr1:244218341 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.1035_1039del (p.Glu345fs) microsatellite Inborn genetic diseases [RCV000623231] Chr1:244054804..244054808 [GRCh38]
Chr1:244218106..244218110 [GRCh37]
Chr1:1q44		 pathogenic|likely pathogenic
GRCh37/hg19 1q43-44(chr1:242357208-246378823)x1 copy number loss See cases [RCV000240515] Chr1:242357208..246378823 [GRCh37]
Chr1:1q43-44		 pathogenic
GRCh37/hg19 1q43-44(chr1:243103401-249119318)x1 copy number loss See cases [RCV000240522] Chr1:243103401..249119318 [GRCh37]
Chr1:1q43-44		 pathogenic
NM_205768.3(ZBTB18):c.1421C>T (p.Pro474Leu) single nucleotide variant not provided [RCV000585225] Chr1:244055195 [GRCh38]
Chr1:244218497 [GRCh37]
Chr1:1q44		 likely pathogenic
NM_205768.3(ZBTB18):c.943_944del (p.Arg315fs) deletion Intellectual disability, autosomal dominant 22 [RCV000509052]|not provided [RCV000488886] Chr1:244054717..244054718 [GRCh38]
Chr1:244218019..244218020 [GRCh37]
Chr1:1q44		 pathogenic
NM_205768.3(ZBTB18):c.133C>T (p.Arg45Ter) single nucleotide variant Intellectual disability, autosomal dominant 22 [RCV002285014]|not provided [RCV000488897] Chr1:244053907 [GRCh38]
Chr1:244217209 [GRCh37]
Chr1:1q44		 pathogenic
NM_205768.3(ZBTB18):c.1342dup (p.Thr448fs) duplication not provided [RCV000598700] Chr1:244055115..244055116 [GRCh38]
Chr1:244218417..244218418 [GRCh37]
Chr1:1q44		 pathogenic
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44		 pathogenic
GRCh37/hg19 1q42.3-44(chr1:236515525-249224684)x3 copy number gain See cases [RCV000449458] Chr1:236515525..249224684 [GRCh37]
Chr1:1q42.3-44		 pathogenic
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 copy number gain See cases [RCV000449210] Chr1:214697099..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
NM_205768.3(ZBTB18):c.599del (p.Asp199_Ser200insTer) deletion Intellectual disability, autosomal dominant 22 [RCV000449542] Chr1:244054373 [GRCh38]
Chr1:244217675 [GRCh37]
Chr1:1q44		 pathogenic
GRCh37/hg19 1q43-44(chr1:243681404-244812435)x1 copy number loss See cases [RCV000449251] Chr1:243681404..244812435 [GRCh37]
Chr1:1q43-44		 pathogenic
GRCh37/hg19 1q42.2-44(chr1:231670870-249213000)x3 copy number gain See cases [RCV000447654] Chr1:231670870..249213000 [GRCh37]
Chr1:1q42.2-44		 pathogenic
GRCh37/hg19 1q43-44(chr1:237233879-249206548)x1 copy number loss See cases [RCV000447669] Chr1:237233879..249206548 [GRCh37]
Chr1:1q43-44		 pathogenic
GRCh37/hg19 1q44(chr1:244155894-244505317)x1 copy number loss See cases [RCV000447471] Chr1:244155894..244505317 [GRCh37]
Chr1:1q44		 likely pathogenic
GRCh37/hg19 1q43-44(chr1:239781260-249224684)x3 copy number gain See cases [RCV000447584] Chr1:239781260..249224684 [GRCh37]
Chr1:1q43-44		 pathogenic
GRCh37/hg19 1q42.3-44(chr1:235374095-249224684)x1 copy number loss See cases [RCV000447426] Chr1:235374095..249224684 [GRCh37]
Chr1:1q42.3-44		 pathogenic
GRCh37/hg19 1q43-44(chr1:241094652-246670839)x1 copy number loss See cases [RCV000446261] Chr1:241094652..246670839 [GRCh37]
Chr1:1q43-44		 pathogenic
NM_205768.3(ZBTB18):c.307A>T (p.Ile103Phe) single nucleotide variant not provided [RCV000417928] Chr1:244054081 [GRCh38]
Chr1:244217383 [GRCh37]
Chr1:1q44		 uncertain significance
GRCh37/hg19 1q43-44(chr1:241601964-249224684)x1 copy number loss See cases [RCV000448028] Chr1:241601964..249224684 [GRCh37]
Chr1:1q43-44		 pathogenic
GRCh37/hg19 1q43-44(chr1:242656460-249213000)x3 copy number gain See cases [RCV000448507] Chr1:242656460..249213000 [GRCh37]
Chr1:1q43-44		 pathogenic
GRCh37/hg19 1q44(chr1:244091747-244745425)x1 copy number loss See cases [RCV000448434] Chr1:244091747..244745425 [GRCh37]
Chr1:1q44		 likely pathogenic
NM_205768.3(ZBTB18):c.583C>T (p.Arg195Ter) single nucleotide variant Inborn genetic diseases [RCV002526506]|Intellectual disability, autosomal dominant 22 [RCV000477670]|not provided [RCV001724023] Chr1:244054357 [GRCh38]
Chr1:244217659 [GRCh37]
Chr1:1q44		 pathogenic
NM_205768.3(ZBTB18):c.799dup (p.Tyr267fs) duplication not provided [RCV000485176] Chr1:244054571..244054572 [GRCh38]
Chr1:244217873..244217874 [GRCh37]
Chr1:1q44		 likely pathogenic
NM_205768.3(ZBTB18):c.1474A>G (p.Arg492Gly) single nucleotide variant not provided [RCV000478785] Chr1:244055248 [GRCh38]
Chr1:244218550 [GRCh37]
Chr1:1q44		 likely pathogenic
NM_205768.3(ZBTB18):c.800dup (p.Tyr267Ter) duplication ZBTB18-Related Disorder [RCV002264945]|not provided [RCV000485658] Chr1:244054573..244054574 [GRCh38]
Chr1:244217875..244217876 [GRCh37]
Chr1:1q44		 pathogenic|not provided
GRCh37/hg19 1q43-44(chr1:240620284-247690417)x1 copy number loss See cases [RCV000512075] Chr1:240620284..247690417 [GRCh37]
Chr1:1q43-44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_205768.3(ZBTB18):c.1390C>T (p.Arg464Cys) single nucleotide variant Intellectual disability, autosomal dominant 22 [RCV000509048]|not provided [RCV001568212] Chr1:244055164 [GRCh38]
Chr1:244218466 [GRCh37]
Chr1:1q44		 pathogenic
NM_205768.3(ZBTB18):c.142C>T (p.Arg48Ter) single nucleotide variant Intellectual disability, autosomal dominant 22 [RCV000496174]|not provided [RCV003114622] Chr1:244053916 [GRCh38]
Chr1:244217218 [GRCh37]
Chr1:1q44		 pathogenic|uncertain significance
GRCh37/hg19 1q42.3-44(chr1:235797384-249224684)x1 copy number loss See cases [RCV000510546] Chr1:235797384..249224684 [GRCh37]
Chr1:1q42.3-44		 pathogenic
GRCh37/hg19 1q44(chr1:244197791-249224684)x4 copy number gain See cases [RCV000510563] Chr1:244197791..249224684 [GRCh37]
Chr1:1q44		 likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3 copy number gain See cases [RCV000510981] Chr1:224105294..249224684 [GRCh37]
Chr1:1q42.11-44		 pathogenic
NM_205768.3(ZBTB18):c.1493A>C (p.His498Pro) single nucleotide variant Intellectual disability, autosomal dominant 22 [RCV000656553] Chr1:244055267 [GRCh38]
Chr1:244218569 [GRCh37]
Chr1:1q44		 likely pathogenic
NM_205768.3(ZBTB18):c.410C>T (p.Thr137Ile) single nucleotide variant Inborn genetic diseases [RCV003278097] Chr1:244054184 [GRCh38]
Chr1:244217486 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.1301T>C (p.Leu434Pro) single nucleotide variant Intellectual disability, autosomal dominant 22 [RCV000677642]|Marfanoid habitus and intellectual disability [RCV000850452] Chr1:244055075 [GRCh38]
Chr1:244218377 [GRCh37]
Chr1:1q44		 likely pathogenic
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3 copy number gain not provided [RCV000684700] Chr1:218252551..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3 copy number gain not provided [RCV000684707] Chr1:228529973..249181598 [GRCh37]
Chr1:1q42.13-44		 pathogenic
GRCh37/hg19 1q43-44(chr1:241051170-249224684)x1 copy number loss not provided [RCV000684716] Chr1:241051170..249224684 [GRCh37]
Chr1:1q43-44		 pathogenic
GRCh37/hg19 1q43-44(chr1:243099588-245703296)x1 copy number loss not provided [RCV000684719] Chr1:243099588..245703296 [GRCh37]
Chr1:1q43-44		 pathogenic
GRCh37/hg19 1q44(chr1:244206222-244452976)x1 copy number loss not provided [RCV000684722] Chr1:244206222..244452976 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.1307G>T (p.Arg436Leu) single nucleotide variant Intellectual disability, autosomal dominant 22 [RCV001004936] Chr1:244055081 [GRCh38]
Chr1:244218383 [GRCh37]
Chr1:1q44		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q42.2-44(chr1:232232335-249218992)x3 copy number gain not provided [RCV000749394] Chr1:232232335..249218992 [GRCh37]
Chr1:1q42.2-44		 pathogenic
GRCh37/hg19 1q43-44(chr1:236617216-244515378)x1 copy number loss not provided [RCV000749402] Chr1:236617216..244515378 [GRCh37]
Chr1:1q43-44		 pathogenic
NM_205768.3(ZBTB18):c.1391G>A (p.Arg464His) single nucleotide variant Intellectual disability [RCV001263294]|Intellectual disability, autosomal dominant 22 [RCV000754089]|not provided [RCV001269922] Chr1:244055165 [GRCh38]
Chr1:244218467 [GRCh37]
Chr1:1q44		 pathogenic|likely pathogenic
NM_205768.3(ZBTB18):c.1246G>A (p.Val416Ile) single nucleotide variant not provided [RCV000761712] Chr1:244055020 [GRCh38]
Chr1:244218322 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.171T>A (p.Tyr57Ter) single nucleotide variant not provided [RCV000760786] Chr1:244053945 [GRCh38]
Chr1:244217247 [GRCh37]
Chr1:1q44		 likely pathogenic
NM_205768.3(ZBTB18):c.339C>T (p.Leu113=) single nucleotide variant not provided [RCV000971206] Chr1:244054113 [GRCh38]
Chr1:244217415 [GRCh37]
Chr1:1q44		 benign|likely benign
NM_205768.3(ZBTB18):c.315C>T (p.Asp105=) single nucleotide variant not provided [RCV000902078] Chr1:244054089 [GRCh38]
Chr1:244217391 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.561C>T (p.Ala187=) single nucleotide variant not provided [RCV000928981] Chr1:244054335 [GRCh38]
Chr1:244217637 [GRCh37]
Chr1:1q44		 likely benign
GRCh37/hg19 1q43-44(chr1:242150334-246518362) copy number loss not provided [RCV000767623] Chr1:242150334..246518362 [GRCh37]
Chr1:1q43-44		 pathogenic
NM_205768.3(ZBTB18):c.1344A>G (p.Thr448=) single nucleotide variant not provided [RCV000922150] Chr1:244055118 [GRCh38]
Chr1:244218420 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.252C>T (p.Phe84=) single nucleotide variant not provided [RCV000896500] Chr1:244054026 [GRCh38]
Chr1:244217328 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.27T>C (p.Ser9=) single nucleotide variant not provided [RCV000917763] Chr1:244053801 [GRCh38]
Chr1:244217103 [GRCh37]
Chr1:1q44		 likely benign
GRCh37/hg19 1q43-44(chr1:242816510-244797117) copy number loss Intellectual disability, autosomal dominant 22 [RCV002280619] Chr1:242816510..244797117 [GRCh37]
Chr1:1q43-44		 pathogenic
GRCh37/hg19 1q43-44(chr1:238669293-249224684)x3 copy number gain not provided [RCV000849904] Chr1:238669293..249224684 [GRCh37]
Chr1:1q43-44		 pathogenic
NM_205768.3(ZBTB18):c.1355G>A (p.Cys452Tyr) single nucleotide variant Intellectual disability, autosomal dominant 22 [RCV000825017] Chr1:244055129 [GRCh38]
Chr1:244218431 [GRCh37]
Chr1:1q44		 likely pathogenic
NM_205768.3(ZBTB18):c.1473C>G (p.Tyr491Ter) single nucleotide variant Intellectual disability, autosomal dominant 22 [RCV001095656] Chr1:244055247 [GRCh38]
Chr1:244218549 [GRCh37]
Chr1:1q44		 likely pathogenic
GRCh37/hg19 1q42.3-44(chr1:235582580-249224684)x3 copy number gain not provided [RCV000846184] Chr1:235582580..249224684 [GRCh37]
Chr1:1q42.3-44		 pathogenic
GRCh37/hg19 1q43-44(chr1:243180208-244909440)x1 copy number loss not provided [RCV000846589] Chr1:243180208..244909440 [GRCh37]
Chr1:1q43-44		 pathogenic
NM_205768.3(ZBTB18):c.967_968insG (p.Leu323fs) insertion Intellectual disability, autosomal dominant 22 [RCV000986581] Chr1:244054741..244054742 [GRCh38]
Chr1:244218043..244218044 [GRCh37]
Chr1:1q44		 pathogenic
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44		 pathogenic
GRCh37/hg19 1q43-44(chr1:242483182-245087048)x1 copy number loss not provided [RCV001005203] Chr1:242483182..245087048 [GRCh37]
Chr1:1q43-44		 pathogenic
NM_205768.3(ZBTB18):c.1465G>T (p.Asp489Tyr) single nucleotide variant Intellectual disability, autosomal dominant 22 [RCV000850620]|not provided [RCV003238248] Chr1:244055239 [GRCh38]
Chr1:244218541 [GRCh37]
Chr1:1q44		 likely pathogenic
NM_205768.3(ZBTB18):c.669C>T (p.Ser223=) single nucleotide variant not provided [RCV000994327] Chr1:244054443 [GRCh38]
Chr1:244217745 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.1283T>G (p.Phe428Cys) single nucleotide variant Intellectual disability, autosomal dominant 22 [RCV000995917] Chr1:244055057 [GRCh38]
Chr1:244218359 [GRCh37]
Chr1:1q44		 likely pathogenic
NM_205768.3(ZBTB18):c.1350_1351del (p.Gln451fs) deletion not provided [RCV001008563] Chr1:244055123..244055124 [GRCh38]
Chr1:244218425..244218426 [GRCh37]
Chr1:1q44		 pathogenic
GRCh37/hg19 1q44(chr1:243863432-244634537)x3 copy number gain not provided [RCV001005207] Chr1:243863432..244634537 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.1309C>T (p.His437Tyr) single nucleotide variant Intellectual disability, autosomal dominant 22 [RCV003128090] Chr1:244055083 [GRCh38]
Chr1:244218385 [GRCh37]
Chr1:1q44		 likely pathogenic
NM_205768.3(ZBTB18):c.421G>A (p.Glu141Lys) single nucleotide variant not provided [RCV003234432] Chr1:244054195 [GRCh38]
Chr1:244217497 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.1483C>T (p.Arg495Cys) single nucleotide variant ZBTB18-related condition [RCV003399367]|not provided [RCV001557903] Chr1:244055257 [GRCh38]
Chr1:244218559 [GRCh37]
Chr1:1q44		 likely pathogenic
NM_205768.3(ZBTB18):c.159A>G (p.Ser53=) single nucleotide variant not provided [RCV000902564] Chr1:244053933 [GRCh38]
Chr1:244217235 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.1124C>T (p.Ala375Val) single nucleotide variant not provided [RCV000907820] Chr1:244054898 [GRCh38]
Chr1:244218200 [GRCh37]
Chr1:1q44		 benign
NM_205768.3(ZBTB18):c.990G>C (p.Ser330=) single nucleotide variant not provided [RCV000910020] Chr1:244054764 [GRCh38]
Chr1:244218066 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.1350C>G (p.Thr450=) single nucleotide variant not provided [RCV000931178] Chr1:244055124 [GRCh38]
Chr1:244218426 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.960G>A (p.Pro320=) single nucleotide variant not provided [RCV000920613] Chr1:244054734 [GRCh38]
Chr1:244218036 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.1206C>T (p.Phe402=) single nucleotide variant not provided [RCV000916838] Chr1:244054980 [GRCh38]
Chr1:244218282 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.1237G>A (p.Ala413Thr) single nucleotide variant Intellectual disability, autosomal dominant 22 [RCV001731976]|not provided [RCV000913517] Chr1:244055011 [GRCh38]
Chr1:244218313 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.1398C>T (p.Ala466=) single nucleotide variant not provided [RCV000912686] Chr1:244055172 [GRCh38]
Chr1:244218474 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.901A>G (p.Met301Val) single nucleotide variant not provided [RCV001532109] Chr1:244054675 [GRCh38]
Chr1:244217977 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.691_692del (p.Leu231fs) deletion Intellectual disability, autosomal dominant 22 [RCV002465457] Chr1:244054464..244054465 [GRCh38]
Chr1:244217766..244217767 [GRCh37]
Chr1:1q44		 pathogenic
GRCh37/hg19 1q43-44(chr1:243258050-249224684)x3 copy number gain not provided [RCV002472628] Chr1:243258050..249224684 [GRCh37]
Chr1:1q43-44		 pathogenic
NM_205768.3(ZBTB18):c.1493A>G (p.His498Arg) single nucleotide variant ZBTB18-Related Disorder [RCV002465362] Chr1:244055267 [GRCh38]
Chr1:244218569 [GRCh37]
Chr1:1q44		 not provided
NM_205768.3(ZBTB18):c.1411C>T (p.Arg471Cys) single nucleotide variant Intellectual disability, autosomal dominant 22 [RCV003234859] Chr1:244055185 [GRCh38]
Chr1:244218487 [GRCh37]
Chr1:1q44		 likely pathogenic
NM_205768.3(ZBTB18):c.859G>A (p.Ala287Thr) single nucleotide variant Intellectual disability, autosomal dominant 22 [RCV002472118] Chr1:244054633 [GRCh38]
Chr1:244217935 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.446A>G (p.Lys149Arg) single nucleotide variant Intellectual disability, autosomal dominant 22 [RCV002471988] Chr1:244054220 [GRCh38]
Chr1:244217522 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.1391G>C (p.Arg464Pro) single nucleotide variant Intellectual disability, autosomal dominant 22 [RCV001252638] Chr1:244055165 [GRCh38]
Chr1:244218467 [GRCh37]
Chr1:1q44		 likely pathogenic
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44		 pathogenic
NM_205768.3(ZBTB18):c.1245_1247del (p.Val416del) deletion Mental retardation, autosomal dominant 22 [RCV001724770] Chr1:244055019..244055021 [GRCh38]
Chr1:244218321..244218323 [GRCh37]
Chr1:1q44		 uncertain significance
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44		 pathogenic
NM_205768.3(ZBTB18):c.1053C>T (p.Ser351=) single nucleotide variant not provided [RCV001200568] Chr1:244054827 [GRCh38]
Chr1:244218129 [GRCh37]
Chr1:1q44		 likely benign
GRCh37/hg19 1q43-44(chr1:242709334-244225511)x1 copy number loss not provided [RCV001005204] Chr1:242709334..244225511 [GRCh37]
Chr1:1q43-44		 pathogenic
NM_205768.3(ZBTB18):c.1287_1288del (p.Cys430fs) deletion not provided [RCV001070661] Chr1:244055061..244055062 [GRCh38]
Chr1:244218363..244218364 [GRCh37]
Chr1:1q44		 likely pathogenic|uncertain significance
NM_205768.3(ZBTB18):c.1143C>A (p.Cys381Ter) single nucleotide variant Intellectual disability, autosomal dominant 22 [RCV001252637] Chr1:244054917 [GRCh38]
Chr1:244218219 [GRCh37]
Chr1:1q44		 pathogenic
NM_205768.3(ZBTB18):c.1307G>A (p.Arg436His) single nucleotide variant Intellectual disability, autosomal dominant 22 [RCV001253311]|not provided [RCV002305581] Chr1:244055081 [GRCh38]
Chr1:244218383 [GRCh37]
Chr1:1q44		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 1q44(chr1:244125028-244229161)x3 copy number gain not provided [RCV001259598] Chr1:244125028..244229161 [GRCh37]
Chr1:1q44		 likely benign
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NM_205768.3(ZBTB18):c.1174del (p.His392fs) deletion not provided [RCV001268113] Chr1:244054944 [GRCh38]
Chr1:244218246 [GRCh37]
Chr1:1q44		 likely pathogenic
NM_205768.3(ZBTB18):c.794G>A (p.Ser265Asn) single nucleotide variant Inborn genetic diseases [RCV001267123] Chr1:244054568 [GRCh38]
Chr1:244217870 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.1373A>G (p.Tyr458Cys) single nucleotide variant Neurodevelopmental abnormality [RCV001264666] Chr1:244055147 [GRCh38]
Chr1:244218449 [GRCh37]
Chr1:1q44		 likely pathogenic
NM_205768.3(ZBTB18):c.1147del (p.Leu383fs) deletion Intellectual disability, autosomal dominant 22 [RCV002291296]|not provided [RCV001268397] Chr1:244054917 [GRCh38]
Chr1:244218219 [GRCh37]
Chr1:1q44		 likely pathogenic
NM_205768.3(ZBTB18):c.352A>G (p.Ile118Val) single nucleotide variant Inborn genetic diseases [RCV001267505] Chr1:244054126 [GRCh38]
Chr1:244217428 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.1462G>A (p.Gly488Arg) single nucleotide variant Inborn genetic diseases [RCV001266333]|not provided [RCV003319460] Chr1:244055236 [GRCh38]
Chr1:244218538 [GRCh37]
Chr1:1q44		 likely pathogenic|uncertain significance
NM_205768.3(ZBTB18):c.1306C>T (p.Arg436Cys) single nucleotide variant Intellectual disability, autosomal dominant 22 [RCV002287597]|not provided [RCV003546753] Chr1:244055080 [GRCh38]
Chr1:244218382 [GRCh37]
Chr1:1q44		 likely pathogenic|uncertain significance
GRCh37/hg19 1q43-44(chr1:240554955-247342593) copy number loss Corpus callosum, agenesis of [RCV001352645] Chr1:240554955..247342593 [GRCh37]
Chr1:1q43-44		 pathogenic
NM_205768.3(ZBTB18):c.1378C>T (p.His460Tyr) single nucleotide variant Intellectual disability, autosomal dominant 22 [RCV001334766]|not provided [RCV001569101] Chr1:244055152 [GRCh38]
Chr1:244218454 [GRCh37]
Chr1:1q44		 pathogenic|likely pathogenic
NM_205768.3(ZBTB18):c.1347C>G (p.Cys449Trp) single nucleotide variant Intellectual disability, autosomal dominant 22 [RCV001328873] Chr1:244055121 [GRCh38]
Chr1:244218423 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.753_754del (p.Ser252fs) deletion Intellectual disability, autosomal dominant 22 [RCV001281097] Chr1:244054526..244054527 [GRCh38]
Chr1:244217828..244217829 [GRCh37]
Chr1:1q44		 pathogenic
NM_205768.3(ZBTB18):c.1550T>C (p.Val517Ala) single nucleotide variant ZBTB18-related intellectual disability [RCV001270725] Chr1:244055324 [GRCh38]
Chr1:244218626 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.244_246dup (p.Pro82_Ala83insPro) duplication Intellectual disability, autosomal dominant 22 [RCV001270416] Chr1:244054015..244054016 [GRCh38]
Chr1:244217317..244217318 [GRCh37]
Chr1:1q44		 likely pathogenic
NM_205768.3(ZBTB18):c.246dup (p.Ala83fs) duplication not provided [RCV001270003] Chr1:244054015..244054016 [GRCh38]
Chr1:244217317..244217318 [GRCh37]
Chr1:1q44		 pathogenic
NM_205768.3(ZBTB18):c.1054G>A (p.Glu352Lys) single nucleotide variant Intellectual disability, autosomal dominant 22 [RCV001328871]|not provided [RCV002546282] Chr1:244054828 [GRCh38]
Chr1:244218130 [GRCh37]
Chr1:1q44		 conflicting interpretations of pathogenicity|uncertain significance
NM_205768.3(ZBTB18):c.977T>C (p.Leu326Pro) single nucleotide variant not provided [RCV001312140] Chr1:244054751 [GRCh38]
Chr1:244218053 [GRCh37]
Chr1:1q44		 likely benign|conflicting interpretations of pathogenicity
NM_205768.3(ZBTB18):c.658dup (p.Thr220fs) duplication not provided [RCV001269780] Chr1:244054427..244054428 [GRCh38]
Chr1:244217729..244217730 [GRCh37]
Chr1:1q44		 pathogenic
NM_205768.3(ZBTB18):c.1406A>G (p.His469Arg) single nucleotide variant Intellectual disability, autosomal dominant 22 [RCV002246354]|not provided [RCV001377932] Chr1:244055180 [GRCh38]
Chr1:244218482 [GRCh37]
Chr1:1q44		 pathogenic|likely pathogenic
NM_205768.3(ZBTB18):c.204_205del (p.Asp70fs) deletion Intellectual disability, autosomal dominant 22 [RCV002280350] Chr1:244053976..244053977 [GRCh38]
Chr1:244217278..244217279 [GRCh37]
Chr1:1q44		 likely pathogenic
NM_205768.3(ZBTB18):c.1299C>A (p.Thr433=) single nucleotide variant not provided [RCV001726798] Chr1:244055073 [GRCh38]
Chr1:244218375 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.896A>G (p.Tyr299Cys) single nucleotide variant Inborn genetic diseases [RCV002544286]|Intellectual disability, autosomal dominant 22 [RCV001784127]|not provided [RCV002541224] Chr1:244054670 [GRCh38]
Chr1:244217972 [GRCh37]
Chr1:1q44		 likely benign|uncertain significance
NM_205768.3(ZBTB18):c.263T>C (p.Leu88Pro) single nucleotide variant not provided [RCV001769247] Chr1:244054037 [GRCh38]
Chr1:244217339 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.559G>A (p.Ala187Thr) single nucleotide variant not provided [RCV001754668] Chr1:244054333 [GRCh38]
Chr1:244217635 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.550del (p.Asp184fs) deletion Intellectual disability, autosomal dominant 22 [RCV001771787] Chr1:244054322 [GRCh38]
Chr1:244217624 [GRCh37]
Chr1:1q44		 pathogenic
NM_205768.3(ZBTB18):c.1138A>G (p.Met380Val) single nucleotide variant not provided [RCV001763335] Chr1:244054912 [GRCh38]
Chr1:244218214 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.1412G>T (p.Arg471Leu) single nucleotide variant not provided [RCV001773285] Chr1:244055186 [GRCh38]
Chr1:244218488 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.142C>G (p.Arg48Gly) single nucleotide variant Intellectual disability, autosomal dominant 22 [RCV001849565]|not provided [RCV001752558] Chr1:244053916 [GRCh38]
Chr1:244217218 [GRCh37]
Chr1:1q44		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_205768.3(ZBTB18):c.299A>G (p.Asp100Gly) single nucleotide variant not provided [RCV001806966] Chr1:244054073 [GRCh38]
Chr1:244217375 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.1456C>T (p.Gln486Ter) single nucleotide variant ZBTB18-related intellectual disability [RCV001795618] Chr1:244055230 [GRCh38]
Chr1:244218532 [GRCh37]
Chr1:1q44		 pathogenic
NM_205768.3(ZBTB18):c.709A>C (p.Thr237Pro) single nucleotide variant not provided [RCV001816082] Chr1:244054483 [GRCh38]
Chr1:244217785 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.579G>A (p.Trp193Ter) single nucleotide variant Intellectual disability, autosomal dominant 22 [RCV001808296] Chr1:244054353 [GRCh38]
Chr1:244217655 [GRCh37]
Chr1:1q44		 pathogenic
NM_205768.3(ZBTB18):c.1594T>C (p.Ter532Gln) single nucleotide variant not provided [RCV001874726] Chr1:244055368 [GRCh38]
Chr1:244218670 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.1185G>T (p.Gln395His) single nucleotide variant not provided [RCV001874597] Chr1:244054959 [GRCh38]
Chr1:244218261 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.1268T>C (p.Leu423Pro) single nucleotide variant Intellectual disability, autosomal dominant 22 [RCV001843883] Chr1:244055042 [GRCh38]
Chr1:244218344 [GRCh37]
Chr1:1q44		 uncertain significance
NC_000001.10:g.(?_243303219)_(245027609_?)dup duplication Senior-Loken syndrome 7 [RCV002010254]|not provided [RCV002035611] Chr1:243303219..245027609 [GRCh37]
Chr1:1q43-44		 uncertain significance|no classifications from unflagged records
NC_000001.10:g.(?_244214734)_(245027609_?)del deletion not provided [RCV002048344] Chr1:244214734..245027609 [GRCh37]
Chr1:1q44		 uncertain significance
NC_000001.10:g.(?_242431558)_(245027609_?)del deletion Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 [RCV001956278] Chr1:242431558..245027609 [GRCh37]
Chr1:1q43-44		 pathogenic
NC_000001.10:g.(?_243578984)_(245027609_?)del deletion heterogeneous nuclear ribonucleoprotein G, human [RCV001958821] Chr1:243578984..245027609 [GRCh37]
Chr1:1q43-44		 pathogenic
NC_000001.10:g.(?_241661128)_(245027609_?)dup duplication Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 [RCV001992552] Chr1:241661128..245027609 [GRCh37]
Chr1:1q43-44		 uncertain significance
NM_205768.3(ZBTB18):c.1487A>G (p.Lys496Arg) single nucleotide variant Intellectual disability, autosomal dominant 22 [RCV002210926] Chr1:244055261 [GRCh38]
Chr1:244218563 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.1326G>A (p.Ser442=) single nucleotide variant not provided [RCV002135089] Chr1:244055100 [GRCh38]
Chr1:244218402 [GRCh37]
Chr1:1q44		 benign
NM_205768.3(ZBTB18):c.1207del (p.Arg403fs) deletion Intellectual disability, autosomal dominant 22 [RCV002227706] Chr1:244054980 [GRCh38]
Chr1:244218282 [GRCh37]
Chr1:1q44		 likely pathogenic
NC_000001.10:g.(?_241661128)_(244218672_?)del deletion not provided [RCV003114057] Chr1:241661128..244218672 [GRCh37]
Chr1:1q43-44		 uncertain significance
NM_205768.3(ZBTB18):c.65G>A (p.Cys22Tyr) single nucleotide variant not provided [RCV003120428] Chr1:244053839 [GRCh38]
Chr1:244217141 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.922G>T (p.Glu308Ter) single nucleotide variant Intellectual disability, autosomal dominant 22 [RCV002226898] Chr1:244054696 [GRCh38]
Chr1:244217998 [GRCh37]
Chr1:1q44		 likely pathogenic
NM_205768.3(ZBTB18):c.1391G>T (p.Arg464Leu) single nucleotide variant Intellectual disability, autosomal dominant 22 [RCV002251239] Chr1:244055165 [GRCh38]
Chr1:244218467 [GRCh37]
Chr1:1q44		 likely pathogenic
NM_205768.3(ZBTB18):c.1210G>A (p.Glu404Lys) single nucleotide variant Intellectual disability, autosomal dominant 22 [RCV002249204] Chr1:244054984 [GRCh38]
Chr1:244218286 [GRCh37]
Chr1:1q44		 likely pathogenic
NM_205768.3(ZBTB18):c.1484G>A (p.Arg495His) single nucleotide variant ZBTB18-Related Disorder [RCV003233247] Chr1:244055258 [GRCh38]
Chr1:244218560 [GRCh37]
Chr1:1q44		 not provided
NM_205768.3(ZBTB18):c.1397_1400dup (p.Val468fs) duplication Intellectual disability, autosomal dominant 22 [RCV003233268] Chr1:244055170..244055171 [GRCh38]
Chr1:244218472..244218473 [GRCh37]
Chr1:1q44		 not provided
NM_205768.3(ZBTB18):c.1408A>G (p.Thr470Ala) single nucleotide variant Intellectual disability, autosomal dominant 22 [RCV002265540] Chr1:244055182 [GRCh38]
Chr1:244218484 [GRCh37]
Chr1:1q44		 not provided
NM_205768.3(ZBTB18):c.773C>T (p.Ser258Leu) single nucleotide variant not provided [RCV002293702] Chr1:244054547 [GRCh38]
Chr1:244217849 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.335A>G (p.Tyr112Cys) single nucleotide variant not provided [RCV002269635] Chr1:244054109 [GRCh38]
Chr1:244217411 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.932G>A (p.Ser311Asn) single nucleotide variant not provided [RCV002292763] Chr1:244054706 [GRCh38]
Chr1:244218008 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.1403T>C (p.Val468Ala) single nucleotide variant Intellectual disability, autosomal dominant 22 [RCV002273250] Chr1:244055177 [GRCh38]
Chr1:244218479 [GRCh37]
Chr1:1q44		 likely pathogenic
NM_205768.3(ZBTB18):c.806C>T (p.Ser269Phe) single nucleotide variant not provided [RCV002283041] Chr1:244054580 [GRCh38]
Chr1:244217882 [GRCh37]
Chr1:1q44		 uncertain significance
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 copy number gain See cases [RCV002287837] Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44		 pathogenic
NM_205768.3(ZBTB18):c.764_765dup (p.Ser256fs) duplication Intellectual disability, autosomal dominant 22 [RCV002290349] Chr1:244054537..244054538 [GRCh38]
Chr1:244217839..244217840 [GRCh37]
Chr1:1q44		 likely pathogenic
NM_205768.3(ZBTB18):c.877_881del (p.Asp293fs) deletion Neurodevelopmental delay [RCV002274407] Chr1:244054649..244054653 [GRCh38]
Chr1:244217951..244217955 [GRCh37]
Chr1:1q44		 pathogenic
NM_205768.3(ZBTB18):c.1478A>G (p.His493Arg) single nucleotide variant Intellectual disability, autosomal dominant 22 [RCV002466384] Chr1:244055252 [GRCh38]
Chr1:244218554 [GRCh37]
Chr1:1q44		 likely pathogenic
NM_205768.3(ZBTB18):c.32A>T (p.Glu11Val) single nucleotide variant Developmental delay [RCV003154291] Chr1:244053806 [GRCh38]
Chr1:244217108 [GRCh37]
Chr1:1q44		 likely pathogenic
GRCh37/hg19 1q43-44(chr1:242619665-244705582)x4 copy number gain not provided [RCV002474775] Chr1:242619665..244705582 [GRCh37]
Chr1:1q43-44		 uncertain significance
GRCh37/hg19 1q43-44(chr1:239910960-249224684)x1 copy number loss not provided [RCV002474504] Chr1:239910960..249224684 [GRCh37]
Chr1:1q43-44		 pathogenic
GRCh37/hg19 1q43-44(chr1:243085543-247137125)x3 copy number gain not provided [RCV002474542] Chr1:243085543..247137125 [GRCh37]
Chr1:1q43-44		 pathogenic
NM_205768.3(ZBTB18):c.926G>T (p.Ser309Ile) single nucleotide variant Intellectual disability, autosomal dominant 22 [RCV002472023] Chr1:244054700 [GRCh38]
Chr1:244218002 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.1080G>A (p.Met360Ile) single nucleotide variant not provided [RCV002303808] Chr1:244054854 [GRCh38]
Chr1:244218156 [GRCh37]
Chr1:1q44		 benign|uncertain significance
NM_205768.3(ZBTB18):c.1060G>A (p.Val354Ile) single nucleotide variant not provided [RCV002303760] Chr1:244054834 [GRCh38]
Chr1:244218136 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.1142_1146delinsAACCCT (p.Cys381_Pro382delinsTer) indel Intellectual disability, autosomal dominant 22 [RCV002463414] Chr1:244054916..244054920 [GRCh38]
Chr1:244218218..244218222 [GRCh37]
Chr1:1q44		 pathogenic
GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3 copy number gain not provided [RCV002475745] Chr1:223972939..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
NM_205768.3(ZBTB18):c.1356C>T (p.Cys452=) single nucleotide variant not provided [RCV002948293] Chr1:244055130 [GRCh38]
Chr1:244218432 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.638A>G (p.His213Arg) single nucleotide variant not provided [RCV003077021] Chr1:244054412 [GRCh38]
Chr1:244217714 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.1422G>A (p.Pro474=) single nucleotide variant not provided [RCV002995550] Chr1:244055196 [GRCh38]
Chr1:244218498 [GRCh37]
Chr1:1q44		 benign
NM_205768.3(ZBTB18):c.1380C>T (p.His460=) single nucleotide variant not provided [RCV003017758] Chr1:244055154 [GRCh38]
Chr1:244218456 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.406A>G (p.Ser136Gly) single nucleotide variant not provided [RCV002908938] Chr1:244054180 [GRCh38]
Chr1:244217482 [GRCh37]
Chr1:1q44		 benign|uncertain significance
NM_205768.3(ZBTB18):c.1413C>T (p.Arg471=) single nucleotide variant not provided [RCV002731173] Chr1:244055187 [GRCh38]
Chr1:244218489 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.1371G>A (p.Gln457=) single nucleotide variant not provided [RCV003073698] Chr1:244055145 [GRCh38]
Chr1:244218447 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.1122C>T (p.Pro374=) single nucleotide variant not provided [RCV002750142] Chr1:244054896 [GRCh38]
Chr1:244218198 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.726G>A (p.Ser242=) single nucleotide variant not provided [RCV002615355] Chr1:244054500 [GRCh38]
Chr1:244217802 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.170A>T (p.Tyr57Phe) single nucleotide variant Inborn genetic diseases [RCV002836553] Chr1:244053944 [GRCh38]
Chr1:244217246 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.562G>A (p.Glu188Lys) single nucleotide variant not provided [RCV003034235] Chr1:244054336 [GRCh38]
Chr1:244217638 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.640_641delinsCT (p.Ala214Leu) indel not provided [RCV002842827] Chr1:244054414..244054415 [GRCh38]
Chr1:244217716..244217717 [GRCh37]
Chr1:1q44		 uncertain significance
Single allele deletion Developmental and epileptic encephalopathy, 54 [RCV002481171] Chr1:242045197..249212668 [GRCh37]
Chr1:1q43-44		 likely pathogenic
NM_205768.3(ZBTB18):c.1455G>A (p.Thr485=) single nucleotide variant not provided [RCV002842666] Chr1:244055229 [GRCh38]
Chr1:244218531 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.822G>A (p.Leu274=) single nucleotide variant not provided [RCV003055387] Chr1:244054596 [GRCh38]
Chr1:244217898 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.10A>G (p.Lys4Glu) single nucleotide variant Inborn genetic diseases [RCV002911157] Chr1:244051441 [GRCh38]
Chr1:244214743 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.664G>C (p.Ala222Pro) single nucleotide variant Inborn genetic diseases [RCV002925550] Chr1:244054438 [GRCh38]
Chr1:244217740 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.558G>A (p.Ala186=) single nucleotide variant not provided [RCV002736160] Chr1:244054332 [GRCh38]
Chr1:244217634 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.640G>A (p.Ala214Thr) single nucleotide variant not provided [RCV003000179] Chr1:244054414 [GRCh38]
Chr1:244217716 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.620G>A (p.Gly207Asp) single nucleotide variant not provided [RCV002760930] Chr1:244054394 [GRCh38]
Chr1:244217696 [GRCh37]
Chr1:1q44		 benign|uncertain significance
NM_205768.3(ZBTB18):c.13+13A>G single nucleotide variant not provided [RCV002932048] Chr1:244051457 [GRCh38]
Chr1:244214759 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.246C>T (p.Pro82=) single nucleotide variant not provided [RCV003039821] Chr1:244054020 [GRCh38]
Chr1:244217322 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.372G>C (p.Lys124Asn) single nucleotide variant not provided [RCV002765376] Chr1:244054146 [GRCh38]
Chr1:244217448 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.1407C>T (p.His469=) single nucleotide variant not provided [RCV003040333] Chr1:244055181 [GRCh38]
Chr1:244218483 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.714C>T (p.Ser238=) single nucleotide variant not provided [RCV002957304] Chr1:244054488 [GRCh38]
Chr1:244217790 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.478A>G (p.Ile160Val) single nucleotide variant Inborn genetic diseases [RCV002891856] Chr1:244054252 [GRCh38]
Chr1:244217554 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.104G>A (p.Cys35Tyr) single nucleotide variant not provided [RCV002508481] Chr1:244053878 [GRCh38]
Chr1:244217180 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.362T>G (p.Val121Gly) single nucleotide variant not provided [RCV002801126] Chr1:244054136 [GRCh38]
Chr1:244217438 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.1057C>T (p.Arg353Cys) single nucleotide variant not provided [RCV002700860] Chr1:244054831 [GRCh38]
Chr1:244218133 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.1461C>T (p.Ser487=) single nucleotide variant not provided [RCV002958681] Chr1:244055235 [GRCh38]
Chr1:244218537 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.1037TGA[1] (p.Met347del) microsatellite not provided [RCV003083605] Chr1:244054809..244054811 [GRCh38]
Chr1:244218111..244218113 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.306del (p.Ile103fs) deletion Intellectual disability, autosomal dominant 22 [RCV002789981] Chr1:244054078 [GRCh38]
Chr1:244217380 [GRCh37]
Chr1:1q44		 likely pathogenic
NM_205768.3(ZBTB18):c.816C>T (p.Asp272=) single nucleotide variant not provided [RCV002597636] Chr1:244054590 [GRCh38]
Chr1:244217892 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.686_687del (p.Glu229fs) microsatellite Intellectual disability, autosomal dominant 22 [RCV002810030] Chr1:244054458..244054459 [GRCh38]
Chr1:244217760..244217761 [GRCh37]
Chr1:1q44		 likely pathogenic
NM_205768.3(ZBTB18):c.837G>A (p.Val279=) single nucleotide variant not provided [RCV003046653] Chr1:244054611 [GRCh38]
Chr1:244217913 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.306C>T (p.Pro102=) single nucleotide variant not provided [RCV003010343] Chr1:244054080 [GRCh38]
Chr1:244217382 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.557C>T (p.Ala186Val) single nucleotide variant Inborn genetic diseases [RCV002631368]|not provided [RCV002631367] Chr1:244054331 [GRCh38]
Chr1:244217633 [GRCh37]
Chr1:1q44		 likely benign|uncertain significance
NM_205768.3(ZBTB18):c.1095C>A (p.Leu365=) single nucleotide variant not provided [RCV003062740] Chr1:244054869 [GRCh38]
Chr1:244218171 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.1377G>A (p.Ser459=) single nucleotide variant not provided [RCV003087978] Chr1:244055151 [GRCh38]
Chr1:244218453 [GRCh37]
Chr1:1q44		 benign
NM_205768.3(ZBTB18):c.1040T>C (p.Met347Thr) single nucleotide variant not provided [RCV003051662] Chr1:244054814 [GRCh38]
Chr1:244218116 [GRCh37]
Chr1:1q44		 benign
NM_205768.3(ZBTB18):c.72C>T (p.Ser24=) single nucleotide variant not provided [RCV002606052] Chr1:244053846 [GRCh38]
Chr1:244217148 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.1242C>T (p.Ala414=) single nucleotide variant not provided [RCV002606962] Chr1:244055016 [GRCh38]
Chr1:244218318 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.528G>A (p.Leu176=) single nucleotide variant not provided [RCV002603055] Chr1:244054302 [GRCh38]
Chr1:244217604 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.831C>T (p.Asn277=) single nucleotide variant not provided [RCV002943593] Chr1:244054605 [GRCh38]
Chr1:244217907 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.1527C>T (p.Ser509=) single nucleotide variant not provided [RCV002612108] Chr1:244055301 [GRCh38]
Chr1:244218603 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.1448G>C (p.Arg483Thr) single nucleotide variant not provided [RCV003229214] Chr1:244055222 [GRCh38]
Chr1:244218524 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.1235C>T (p.Pro412Leu) single nucleotide variant not provided [RCV003225428] Chr1:244055009 [GRCh38]
Chr1:244218311 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.307A>G (p.Ile103Val) single nucleotide variant Inborn genetic diseases [RCV003184701] Chr1:244054081 [GRCh38]
Chr1:244217383 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.80G>C (p.Arg27Thr) single nucleotide variant Intellectual disability, autosomal dominant 22 [RCV003142378] Chr1:244053854 [GRCh38]
Chr1:244217156 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.962C>T (p.Ala321Val) single nucleotide variant Intellectual disability, autosomal dominant 22 [RCV003142408] Chr1:244054736 [GRCh38]
Chr1:244218038 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.208G>A (p.Asp70Asn) single nucleotide variant Intellectual disability, autosomal dominant 22 [RCV003139390] Chr1:244053982 [GRCh38]
Chr1:244217284 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.1361A>G (p.Lys454Arg) single nucleotide variant not provided [RCV003322007] Chr1:244055135 [GRCh38]
Chr1:244218437 [GRCh37]
Chr1:1q44		 likely pathogenic
NM_205768.3(ZBTB18):c.1232A>G (p.Lys411Arg) single nucleotide variant not provided [RCV003318795] Chr1:244055006 [GRCh38]
Chr1:244218308 [GRCh37]
Chr1:1q44		 uncertain significance
GRCh38/hg38 1q43-44(chr1:242164274-245299473)x1 copy number loss Intellectual disability, autosomal dominant 22 [RCV003327716] Chr1:242164274..245299473 [GRCh38]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1 copy number loss Intellectual disability, autosomal dominant 22 [RCV003327725] Chr1:235215476..247005888 [GRCh38]
Chr1:1q42.3-44		 pathogenic
NM_205768.3(ZBTB18):c.990G>A (p.Ser330=) single nucleotide variant not provided [RCV003326782] Chr1:244054764 [GRCh38]
Chr1:244218066 [GRCh37]
Chr1:1q44		 likely benign
GRCh38/hg38 1q43-44(chr1:243221458-248919110)x1 copy number loss Intellectual disability, autosomal dominant 22 [RCV003327711] Chr1:243221458..248919110 [GRCh38]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q44(chr1:244051186-244055631)x1 copy number loss Intellectual disability, autosomal dominant 22 [RCV003327717] Chr1:244051186..244055631 [GRCh38]
Chr1:1q44		 pathogenic
NM_205768.3(ZBTB18):c.31G>C (p.Glu11Gln) single nucleotide variant not provided [RCV003328885] Chr1:244053805 [GRCh38]
Chr1:244217107 [GRCh37]
Chr1:1q44		 uncertain significance
GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1 copy number loss Intellectual disability, autosomal dominant 22 [RCV003333897] Chr1:239907336..248919110 [GRCh38]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:242520315-246857912)x1 copy number loss Intellectual disability, autosomal dominant 22 [RCV003333898] Chr1:242520315..246857912 [GRCh38]
Chr1:1q43-44		 pathogenic
NM_205768.3(ZBTB18):c.1423C>G (p.His475Asp) single nucleotide variant Intellectual disability, autosomal dominant 22 [RCV003335808] Chr1:244055197 [GRCh38]
Chr1:244218499 [GRCh37]
Chr1:1q44		 likely pathogenic
NM_205768.3(ZBTB18):c.1286C>T (p.Ser429Phe) single nucleotide variant not provided [RCV003332614] Chr1:244055060 [GRCh38]
Chr1:244218362 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.440C>G (p.Ser147Trp) single nucleotide variant ZBTB18-related condition [RCV003419219] Chr1:244054214 [GRCh38]
Chr1:244217516 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.467G>T (p.Gly156Val) single nucleotide variant ZBTB18-related condition [RCV003391640] Chr1:244054241 [GRCh38]
Chr1:244217543 [GRCh37]
Chr1:1q44		 uncertain significance
GRCh37/hg19 1q43-44(chr1:243581091-244582134)x3 copy number gain not provided [RCV003484054] Chr1:243581091..244582134 [GRCh37]
Chr1:1q43-44		 uncertain significance
GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3 copy number gain not provided [RCV003484052] Chr1:229373250..249206595 [GRCh37]
Chr1:1q42.13-44		 pathogenic
NM_205768.3(ZBTB18):c.734T>C (p.Val245Ala) single nucleotide variant ZBTB18-related condition [RCV003404317] Chr1:244054508 [GRCh38]
Chr1:244217810 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.1009C>T (p.Arg337Trp) single nucleotide variant Intellectual disability, autosomal dominant 22 [RCV003388233] Chr1:244054783 [GRCh38]
Chr1:244218085 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.1450T>C (p.Phe484Leu) single nucleotide variant ZBTB18-related condition [RCV003393144] Chr1:244055224 [GRCh38]
Chr1:244218526 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.343A>G (p.Met115Val) single nucleotide variant Intellectual disability, autosomal dominant 22 [RCV003444505] Chr1:244054117 [GRCh38]
Chr1:244217419 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.1052G>C (p.Ser351Thr) single nucleotide variant ZBTB18-related condition [RCV003421018] Chr1:244054826 [GRCh38]
Chr1:244218128 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.395C>T (p.Thr132Met) single nucleotide variant ZBTB18-related condition [RCV003404603] Chr1:244054169 [GRCh38]
Chr1:244217471 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.1518G>A (p.Ser506=) single nucleotide variant not provided [RCV003415093] Chr1:244055292 [GRCh38]
Chr1:244218594 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.1326G>C (p.Ser442=) single nucleotide variant not provided [RCV003415092] Chr1:244055100 [GRCh38]
Chr1:244218402 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.1126G>A (p.Gly376Ser) single nucleotide variant not provided [RCV003415091] Chr1:244054900 [GRCh38]
Chr1:244218202 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.906A>G (p.Glu302=) single nucleotide variant not provided [RCV003415090] Chr1:244054680 [GRCh38]
Chr1:244217982 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.629C>G (p.Ala210Gly) single nucleotide variant not provided [RCV003415089] Chr1:244054403 [GRCh38]
Chr1:244217705 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.75G>A (p.Glu25=) single nucleotide variant not provided [RCV003415088] Chr1:244053849 [GRCh38]
Chr1:244217151 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.586T>C (p.Leu196=) single nucleotide variant not provided [RCV003546272] Chr1:244054360 [GRCh38]
Chr1:244217662 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.1094T>C (p.Leu365Pro) single nucleotide variant not provided [RCV003695864] Chr1:244054868 [GRCh38]
Chr1:244218170 [GRCh37]
Chr1:1q44		 benign
NM_205768.3(ZBTB18):c.1240G>A (p.Ala414Thr) single nucleotide variant not provided [RCV003715634] Chr1:244055014 [GRCh38]
Chr1:244218316 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.1045C>T (p.Pro349Ser) single nucleotide variant not provided [RCV003663149] Chr1:244054819 [GRCh38]
Chr1:244218121 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.387A>G (p.Lys129=) single nucleotide variant not provided [RCV003689558] Chr1:244054161 [GRCh38]
Chr1:244217463 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.1239C>T (p.Ala413=) single nucleotide variant not provided [RCV003660532] Chr1:244055013 [GRCh38]
Chr1:244218315 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.715G>A (p.Val239Met) single nucleotide variant not provided [RCV003660171] Chr1:244054489 [GRCh38]
Chr1:244217791 [GRCh37]
Chr1:1q44		 benign
NM_205768.3(ZBTB18):c.463G>A (p.Asp155Asn) single nucleotide variant not provided [RCV003545950] Chr1:244054237 [GRCh38]
Chr1:244217539 [GRCh37]
Chr1:1q44		 benign
NM_205768.3(ZBTB18):c.914C>G (p.Thr305Ser) single nucleotide variant not provided [RCV003548884] Chr1:244054688 [GRCh38]
Chr1:244217990 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.1221C>T (p.Gly407=) single nucleotide variant not provided [RCV003832003] Chr1:244054995 [GRCh38]
Chr1:244218297 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.309T>C (p.Ile103=) single nucleotide variant not provided [RCV003663968] Chr1:244054083 [GRCh38]
Chr1:244217385 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.1440C>T (p.Cys480=) single nucleotide variant not provided [RCV003726608] Chr1:244055214 [GRCh38]
Chr1:244218516 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.1017C>T (p.Asp339=) single nucleotide variant not provided [RCV003664904] Chr1:244054791 [GRCh38]
Chr1:244218093 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.102C>G (p.Asp34Glu) single nucleotide variant not provided [RCV003670300] Chr1:244053876 [GRCh38]
Chr1:244217178 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.253G>A (p.Ala85Thr) single nucleotide variant not provided [RCV003702741] Chr1:244054027 [GRCh38]
Chr1:244217329 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.217C>G (p.His73Asp) single nucleotide variant not provided [RCV003580965] Chr1:244053991 [GRCh38]
Chr1:244217293 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.1474A>C (p.Arg492=) single nucleotide variant not provided [RCV003726289] Chr1:244055248 [GRCh38]
Chr1:244218550 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.1012del (p.Glu338fs) deletion not provided [RCV003560693] Chr1:244054784 [GRCh38]
Chr1:244218086 [GRCh37]
Chr1:1q44		 pathogenic
NM_205768.3(ZBTB18):c.834G>A (p.Leu278=) single nucleotide variant not provided [RCV003698599] Chr1:244054608 [GRCh38]
Chr1:244217910 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.1083G>C (p.Glu361Asp) single nucleotide variant ZBTB18-related condition [RCV003901270]|not provided [RCV003701495] Chr1:244054857 [GRCh38]
Chr1:244218159 [GRCh37]
Chr1:1q44		 benign|likely benign
NM_205768.3(ZBTB18):c.1046C>T (p.Pro349Leu) single nucleotide variant not provided [RCV003664147] Chr1:244054820 [GRCh38]
Chr1:244218122 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.1464G>T (p.Gly488=) single nucleotide variant not provided [RCV003672305] Chr1:244055238 [GRCh38]
Chr1:244218540 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.486C>T (p.Gly162=) single nucleotide variant not provided [RCV003724898] Chr1:244054260 [GRCh38]
Chr1:244217562 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.1392C>T (p.Arg464=) single nucleotide variant not provided [RCV003708351] Chr1:244055166 [GRCh38]
Chr1:244218468 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.407G>A (p.Ser136Asn) single nucleotide variant not provided [RCV003681281] Chr1:244054181 [GRCh38]
Chr1:244217483 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.985_1002dup (p.Glu334_Leu335insAspSerValLeuArgGlu) duplication not provided [RCV003564102] Chr1:244054750..244054751 [GRCh38]
Chr1:244218052..244218053 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.1275G>A (p.Gly425=) single nucleotide variant not provided [RCV003728113] Chr1:244055049 [GRCh38]
Chr1:244218351 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.832C>G (p.Leu278Val) single nucleotide variant not provided [RCV003737668] Chr1:244054606 [GRCh38]
Chr1:244217908 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.166A>G (p.Met56Val) single nucleotide variant ZBTB18-related condition [RCV003968899] Chr1:244053940 [GRCh38]
Chr1:244217242 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.616G>C (p.Ala206Pro) single nucleotide variant not provided [RCV003720081] Chr1:244054390 [GRCh38]
Chr1:244217692 [GRCh37]
Chr1:1q44		 likely benign
GRCh37/hg19 1q43-44(chr1:238681812-249224684)x3 copy number gain not specified [RCV003986862] Chr1:238681812..249224684 [GRCh37]
Chr1:1q43-44		 likely pathogenic
NM_205768.3(ZBTB18):c.605G>A (p.Gly202Asp) single nucleotide variant not provided [RCV003562475] Chr1:244054379 [GRCh38]
Chr1:244217681 [GRCh37]
Chr1:1q44		 benign
NM_205768.3(ZBTB18):c.1305G>A (p.Lys435=) single nucleotide variant not provided [RCV003738589] Chr1:244055079 [GRCh38]
Chr1:244218381 [GRCh37]
Chr1:1q44		 benign
NM_205768.3(ZBTB18):c.396G>A (p.Thr132=) single nucleotide variant not provided [RCV003720571] Chr1:244054170 [GRCh38]
Chr1:244217472 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.1312G>A (p.Glu438Lys) single nucleotide variant not provided [RCV003683342] Chr1:244055086 [GRCh38]
Chr1:244218388 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.1058G>A (p.Arg353His) single nucleotide variant not provided [RCV003869048] Chr1:244054832 [GRCh38]
Chr1:244218134 [GRCh37]
Chr1:1q44		 uncertain significance
GRCh37/hg19 1q43-44(chr1:243453390-245467768)x1 copy number loss not specified [RCV003987217] Chr1:243453390..245467768 [GRCh37]
Chr1:1q43-44		 pathogenic
NM_205768.3(ZBTB18):c.621C>T (p.Gly207=) single nucleotide variant not provided [RCV003556911] Chr1:244054395 [GRCh38]
Chr1:244217697 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.1250A>G (p.Asn417Ser) single nucleotide variant not provided [RCV003729584] Chr1:244055024 [GRCh38]
Chr1:244218326 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.1010G>A (p.Arg337Gln) single nucleotide variant not provided [RCV003727384] Chr1:244054784 [GRCh38]
Chr1:244218086 [GRCh37]
Chr1:1q44		 benign
NM_205768.3(ZBTB18):c.462C>T (p.Ser154=) single nucleotide variant not provided [RCV003732963] Chr1:244054236 [GRCh38]
Chr1:244217538 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.1085G>A (p.Ser362Asn) single nucleotide variant not provided [RCV003705666] Chr1:244054859 [GRCh38]
Chr1:244218161 [GRCh37]
Chr1:1q44		 uncertain significance
NM_205768.3(ZBTB18):c.1209C>T (p.Arg403=) single nucleotide variant not provided [RCV003564307] Chr1:244054983 [GRCh38]
Chr1:244218285 [GRCh37]
Chr1:1q44		 likely benign
NM_205768.3(ZBTB18):c.1298C>A (p.Thr433Asn) single nucleotide variant not provided [RCV003886888] Chr1:244055072 [GRCh38]
Chr1:244218374 [GRCh37]
Chr1:1q44		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1028
Count of miRNA genes:581
Interacting mature miRNAs:718
Transcripts:ENST00000358704
Prediction methods:Miranda, 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
RH16021  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371244,220,523 - 244,220,687UniSTSGRCh37
Build 361242,287,146 - 242,287,310RGDNCBI36
Celera1217,510,872 - 217,511,036RGD
Cytogenetic Map1q44-qterUniSTS
HuRef1214,604,433 - 214,604,597UniSTS
GeneMap99-GB4 RH Map1755.25UniSTS
D1S1950E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371244,219,198 - 244,219,297UniSTSGRCh37
Build 361242,285,821 - 242,285,920RGDNCBI36
Celera1217,509,547 - 217,509,646RGD
Cytogenetic Map1q44-qterUniSTS
HuRef1214,603,108 - 214,603,207UniSTS
SHGC-76612  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371244,216,858 - 244,217,059UniSTSGRCh37
Build 361242,283,481 - 242,283,682RGDNCBI36
Celera1217,507,207 - 217,507,408RGD
Cytogenetic Map1q44-qterUniSTS
HuRef1214,600,768 - 214,600,969UniSTS
TNG Radiation Hybrid Map1123758.0UniSTS
GeneMap99-GB4 RH Map1755.25UniSTS
RH104472  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371244,220,528 - 244,220,684UniSTSGRCh37
Build 361242,287,151 - 242,287,307RGDNCBI36
Celera1217,510,877 - 217,511,033RGD
Cytogenetic Map1q44-qterUniSTS
HuRef1214,604,438 - 214,604,594UniSTS
GeneMap99-GB4 RH Map1755.25UniSTS
Whitehead-YAC Contig Map1 UniSTS
MARC_9941-9942:996688685:2  
Human AssemblyChrPosition (strand)SourceJBrowse
HuRef1214,604,229 - 214,604,595UniSTS


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
High 4
Medium 2145 1614 1137 429 1603 352 3897 1747 3296 323 1198 1525 86 954 2532 2
Low 287 1369 587 193 344 112 458 446 422 94 249 82 86 250 256 2
Below cutoff 1 1 1 6 1 4 2 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001421566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_205768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005273006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054333850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054333851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054333852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054333853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AJ001388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ223321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL050055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC078175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN409673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC377579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U38896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  W68199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X95072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000358704   ⟹   ENSP00000351539
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1244,051,283 - 244,057,476 (+)Ensembl
RefSeq Acc Id: ENST00000622512   ⟹   ENSP00000481278
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1244,048,939 - 244,057,472 (+)Ensembl
RefSeq Acc Id: ENST00000696615   ⟹   ENSP00000512755
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1244,048,547 - 244,055,501 (+)Ensembl
RefSeq Acc Id: ENST00000696616   ⟹   ENSP00000512756
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1244,049,799 - 244,057,472 (+)Ensembl
RefSeq Acc Id: ENST00000696617   ⟹   ENSP00000512757
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1244,051,283 - 244,057,476 (+)Ensembl
RefSeq Acc Id: ENST00000696618   ⟹   ENSP00000512758
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1244,052,236 - 244,057,476 (+)Ensembl
RefSeq Acc Id: ENST00000698634   ⟹   ENSP00000513849
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1244,051,359 - 244,054,218 (+)Ensembl
RefSeq Acc Id: NM_001278196   ⟹   NP_001265125
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381244,048,653 - 244,057,476 (+)NCBI
HuRef1214,598,471 - 214,604,688 (+)NCBI
CHM1_11245,484,555 - 245,493,088 (+)NCBI
T2T-CHM13v2.01243,465,140 - 243,473,966 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001421566   ⟹   NP_001408495
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381244,051,283 - 244,057,476 (+)NCBI
T2T-CHM13v2.01243,467,772 - 243,473,966 (+)NCBI
RefSeq Acc Id: NM_006352   ⟹   NP_006343
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381244,053,495 - 244,057,476 (+)NCBI
GRCh371244,212,241 - 244,220,778 (+)NCBI
Build 361242,283,205 - 242,287,401 (+)NCBI Archive
Celera1217,504,910 - 217,511,127 (+)RGD
HuRef1214,598,471 - 214,604,688 (+)ENTREZGENE
CHM1_11245,488,821 - 245,493,088 (+)NCBI
T2T-CHM13v2.01243,469,984 - 243,473,966 (+)NCBI
Sequence:
RefSeq Acc Id: NM_205768   ⟹   NP_991331
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381244,051,283 - 244,057,476 (+)NCBI
GRCh371244,212,241 - 244,220,778 (+)NCBI
Build 361242,281,184 - 242,287,401 (+)NCBI Archive
Celera1217,504,910 - 217,511,127 (+)RGD
HuRef1214,598,471 - 214,604,688 (+)ENTREZGENE
CHM1_11245,486,875 - 245,493,088 (+)NCBI
T2T-CHM13v2.01243,467,772 - 243,473,966 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005273006   ⟹   XP_005273063
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381244,051,283 - 244,057,476 (+)NCBI
GRCh371244,212,241 - 244,220,778 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017000060   ⟹   XP_016855549
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381244,051,283 - 244,057,476 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047430908   ⟹   XP_047286864
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381244,051,283 - 244,057,476 (+)NCBI
RefSeq Acc Id: XM_047430924   ⟹   XP_047286880
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381244,051,283 - 244,057,476 (+)NCBI
RefSeq Acc Id: XM_047430955   ⟹   XP_047286911
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381244,048,491 - 244,057,476 (+)NCBI
RefSeq Acc Id: XM_054333850   ⟹   XP_054189825
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01243,467,772 - 243,473,966 (+)NCBI
RefSeq Acc Id: XM_054333851   ⟹   XP_054189826
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01243,467,772 - 243,473,966 (+)NCBI
RefSeq Acc Id: XM_054333852   ⟹   XP_054189827
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01243,465,996 - 243,473,966 (+)NCBI
RefSeq Acc Id: XM_054333853   ⟹   XP_054189828
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01243,465,054 - 243,473,966 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001265125 (Get FASTA)   NCBI Sequence Viewer  
  NP_001408495 (Get FASTA)   NCBI Sequence Viewer  
  NP_006343 (Get FASTA)   NCBI Sequence Viewer  
  NP_991331 (Get FASTA)   NCBI Sequence Viewer  
  XP_005273063 (Get FASTA)   NCBI Sequence Viewer  
  XP_016855549 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286864 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286880 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286911 (Get FASTA)   NCBI Sequence Viewer  
  XP_054189825 (Get FASTA)   NCBI Sequence Viewer  
  XP_054189826 (Get FASTA)   NCBI Sequence Viewer  
  XP_054189827 (Get FASTA)   NCBI Sequence Viewer  
  XP_054189828 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA81368 (Get FASTA)   NCBI Sequence Viewer  
  AAH36677 (Get FASTA)   NCBI Sequence Viewer  
  BAF84097 (Get FASTA)   NCBI Sequence Viewer  
  BAG57281 (Get FASTA)   NCBI Sequence Viewer  
  CAA04718 (Get FASTA)   NCBI Sequence Viewer  
  CAA11262 (Get FASTA)   NCBI Sequence Viewer  
  CAA64468 (Get FASTA)   NCBI Sequence Viewer  
  EAW77097 (Get FASTA)   NCBI Sequence Viewer  
  EAW77098 (Get FASTA)   NCBI Sequence Viewer  
  EAW77099 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000351539
  ENSP00000351539.4
  ENSP00000481278
  ENSP00000481278.1
  ENSP00000512755.1
  ENSP00000512756.1
  ENSP00000512757.1
  ENSP00000512758
  ENSP00000512758.1
  ENSP00000513849.1
GenBank Protein Q99592 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_991331   ⟸   NM_205768
- Peptide Label: isoform 1
- UniProtKB: B4DF20 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_006343   ⟸   NM_006352
- Peptide Label: isoform 2
- UniProtKB: Q8N463 (UniProtKB/Swiss-Prot),   Q5VU40 (UniProtKB/Swiss-Prot),   Q13397 (UniProtKB/Swiss-Prot),   A8K5U3 (UniProtKB/Swiss-Prot),   Q9UD99 (UniProtKB/Swiss-Prot),   Q99592 (UniProtKB/Swiss-Prot),   B4DF20 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001265125   ⟸   NM_001278196
- Peptide Label: isoform 2
- UniProtKB: Q8N463 (UniProtKB/Swiss-Prot),   Q5VU40 (UniProtKB/Swiss-Prot),   Q13397 (UniProtKB/Swiss-Prot),   A8K5U3 (UniProtKB/Swiss-Prot),   Q9UD99 (UniProtKB/Swiss-Prot),   Q99592 (UniProtKB/Swiss-Prot),   B4DF20 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005273063   ⟸   XM_005273006
- Peptide Label: isoform X1
- UniProtKB: Q8N463 (UniProtKB/Swiss-Prot),   Q5VU40 (UniProtKB/Swiss-Prot),   Q13397 (UniProtKB/Swiss-Prot),   A8K5U3 (UniProtKB/Swiss-Prot),   Q9UD99 (UniProtKB/Swiss-Prot),   Q99592 (UniProtKB/Swiss-Prot),   B4DF20 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016855549   ⟸   XM_017000060
- Peptide Label: isoform X1
- UniProtKB: Q8N463 (UniProtKB/Swiss-Prot),   Q5VU40 (UniProtKB/Swiss-Prot),   Q13397 (UniProtKB/Swiss-Prot),   A8K5U3 (UniProtKB/Swiss-Prot),   Q9UD99 (UniProtKB/Swiss-Prot),   Q99592 (UniProtKB/Swiss-Prot),   B4DF20 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000481278   ⟸   ENST00000622512
RefSeq Acc Id: ENSP00000351539   ⟸   ENST00000358704
RefSeq Acc Id: ENSP00000512758   ⟸   ENST00000696618
RefSeq Acc Id: ENSP00000512755   ⟸   ENST00000696615
RefSeq Acc Id: ENSP00000512756   ⟸   ENST00000696616
RefSeq Acc Id: ENSP00000512757   ⟸   ENST00000696617
RefSeq Acc Id: XP_047286911   ⟸   XM_047430955
- Peptide Label: isoform X1
- UniProtKB: Q99592 (UniProtKB/Swiss-Prot),   Q8N463 (UniProtKB/Swiss-Prot),   Q5VU40 (UniProtKB/Swiss-Prot),   Q13397 (UniProtKB/Swiss-Prot),   A8K5U3 (UniProtKB/Swiss-Prot),   Q9UD99 (UniProtKB/Swiss-Prot),   B4DF20 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047286864   ⟸   XM_047430908
- Peptide Label: isoform X1
- UniProtKB: Q99592 (UniProtKB/Swiss-Prot),   Q8N463 (UniProtKB/Swiss-Prot),   Q5VU40 (UniProtKB/Swiss-Prot),   Q13397 (UniProtKB/Swiss-Prot),   A8K5U3 (UniProtKB/Swiss-Prot),   Q9UD99 (UniProtKB/Swiss-Prot),   B4DF20 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047286880   ⟸   XM_047430924
- Peptide Label: isoform X1
- UniProtKB: Q99592 (UniProtKB/Swiss-Prot),   Q8N463 (UniProtKB/Swiss-Prot),   Q5VU40 (UniProtKB/Swiss-Prot),   Q13397 (UniProtKB/Swiss-Prot),   A8K5U3 (UniProtKB/Swiss-Prot),   Q9UD99 (UniProtKB/Swiss-Prot),   B4DF20 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000513849   ⟸   ENST00000698634
RefSeq Acc Id: XP_054189828   ⟸   XM_054333853
- Peptide Label: isoform X1
- UniProtKB: Q99592 (UniProtKB/Swiss-Prot),   Q8N463 (UniProtKB/Swiss-Prot),   Q5VU40 (UniProtKB/Swiss-Prot),   Q13397 (UniProtKB/Swiss-Prot),   A8K5U3 (UniProtKB/Swiss-Prot),   Q9UD99 (UniProtKB/Swiss-Prot),   B4DF20 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054189827   ⟸   XM_054333852
- Peptide Label: isoform X1
- UniProtKB: Q99592 (UniProtKB/Swiss-Prot),   Q8N463 (UniProtKB/Swiss-Prot),   Q5VU40 (UniProtKB/Swiss-Prot),   Q13397 (UniProtKB/Swiss-Prot),   A8K5U3 (UniProtKB/Swiss-Prot),   Q9UD99 (UniProtKB/Swiss-Prot),   B4DF20 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054189825   ⟸   XM_054333850
- Peptide Label: isoform X1
- UniProtKB: Q99592 (UniProtKB/Swiss-Prot),   Q8N463 (UniProtKB/Swiss-Prot),   Q5VU40 (UniProtKB/Swiss-Prot),   Q13397 (UniProtKB/Swiss-Prot),   A8K5U3 (UniProtKB/Swiss-Prot),   Q9UD99 (UniProtKB/Swiss-Prot),   B4DF20 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054189826   ⟸   XM_054333851
- Peptide Label: isoform X1
- UniProtKB: Q99592 (UniProtKB/Swiss-Prot),   Q8N463 (UniProtKB/Swiss-Prot),   Q5VU40 (UniProtKB/Swiss-Prot),   Q13397 (UniProtKB/Swiss-Prot),   A8K5U3 (UniProtKB/Swiss-Prot),   Q9UD99 (UniProtKB/Swiss-Prot),   B4DF20 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001408495   ⟸   NM_001421566
- Peptide Label: isoform 3
- UniProtKB: A0A8Q3WLX6 (UniProtKB/TrEMBL)
Protein Domains
BTB   C2H2-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q99592-F1-model_v2 AlphaFold Q99592 1-522 view protein structure

Promoters
RGD ID:6809768
Promoter ID:HG_ACW:6554
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid,   NB4
Transcripts:ZNF238.DAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361242,277,784 - 242,278,284 (+)MPROMDB
RGD ID:6787268
Promoter ID:HG_KWN:8129
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:NM_205768
Position:
Human AssemblyChrPosition (strand)Source
Build 361242,280,906 - 242,281,406 (+)MPROMDB
RGD ID:6859434
Promoter ID:EPDNEW_H2882
Type:initiation region
Name:ZBTB18_2
Description:zinc finger and BTB domain containing 18
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2880  EPDNEW_H2883  EPDNEW_H2884  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381244,048,584 - 244,048,644EPDNEW
RGD ID:6859436
Promoter ID:EPDNEW_H2883
Type:initiation region
Name:ZBTB18_3
Description:zinc finger and BTB domain containing 18
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2880  EPDNEW_H2882  EPDNEW_H2884  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381244,048,926 - 244,048,986EPDNEW
RGD ID:6859438
Promoter ID:EPDNEW_H2884
Type:initiation region
Name:ZBTB18_1
Description:zinc finger and BTB domain containing 18
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2880  EPDNEW_H2882  EPDNEW_H2883  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381244,051,283 - 244,051,343EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13030 AgrOrtholog
COSMIC ZBTB18 COSMIC
Ensembl Genes ENSG00000179456 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000358704 ENTREZGENE
  ENST00000358704.4 UniProtKB/Swiss-Prot
  ENST00000622512 ENTREZGENE
  ENST00000622512.1 UniProtKB/Swiss-Prot
  ENST00000696615.1 UniProtKB/TrEMBL
  ENST00000696616.1 UniProtKB/Swiss-Prot
  ENST00000696617.1 UniProtKB/TrEMBL
  ENST00000696618 ENTREZGENE
  ENST00000696618.1 UniProtKB/Swiss-Prot
  ENST00000698634.1 UniProtKB/TrEMBL
Gene3D-CATH Classic Zinc Finger UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000179456 GTEx
HGNC ID HGNC:13030 ENTREZGENE
Human Proteome Map ZBTB18 Human Proteome Map
InterPro BTB/POZ_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SKP1/BTB/POZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10472 UniProtKB/Swiss-Prot
NCBI Gene 10472 ENTREZGENE
OMIM 608433 OMIM
PANTHER ZINC FINGER AND BTB DOMAIN-CONTAINING PROTEIN 18 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC FINGER PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam BTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-C2H2_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37608 PharmGKB
PROSITE BTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART BTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZnF_C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP beta-beta-alpha zinc fingers UniProtKB/TrEMBL
  POZ domain UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
  SSF57667 UniProtKB/Swiss-Prot
UniProt A0A8Q3WLD9_HUMAN UniProtKB/TrEMBL
  A0A8Q3WLX6 ENTREZGENE, UniProtKB/TrEMBL
  A0A8V8TM03_HUMAN UniProtKB/TrEMBL
  A8K5U3 ENTREZGENE
  B4DF20 ENTREZGENE, UniProtKB/TrEMBL
  Q13397 ENTREZGENE
  Q5VU40 ENTREZGENE
  Q8N463 ENTREZGENE
  Q99592 ENTREZGENE
  Q9UD99 ENTREZGENE
  ZBT18_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A8K5U3 UniProtKB/Swiss-Prot
  Q13397 UniProtKB/Swiss-Prot
  Q5VU40 UniProtKB/Swiss-Prot
  Q8N463 UniProtKB/Swiss-Prot
  Q9UD99 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-01-16 ZBTB18  zinc finger and BTB domain containing 18  ZNF238  zinc finger protein 238  Symbol and/or name change 5135510 APPROVED