ZNF81 (zinc finger protein 81) - Rat Genome Database

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Gene: ZNF81 (zinc finger protein 81) Homo sapiens
Analyze
Symbol: ZNF81
Name: zinc finger protein 81
RGD ID: 1349324
HGNC Page HGNC
Description: Predicted to have DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to localize to nucleus. Implicated in non-syndromic X-linked intellectual disability 45.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: dJ54B20.6; FLJ44367; HFZ20; mental retardation, X-linked 45; MRX45; zinc finger protein 81 (hfz20)
RGD Orthologs
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
GRCh38.p13 EnsemblX47,836,902 - 48,002,561 (+)EnsemblGRCh38hg38GRCh38
GRCh38X47,836,902 - 47,925,627 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X47,696,301 - 47,785,026 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X47,581,245 - 47,666,554 (+)NCBINCBI36hg18NCBI36
Build 34X47,452,554 - 47,537,860NCBI
CeleraX51,891,597 - 51,976,926 (+)NCBI
Cytogenetic MapXp11.23NCBI
HuRefX45,408,032 - 45,493,828 (+)NCBIHuRef
CHM1_1X47,727,451 - 47,812,794 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Biological Process

Cellular Component
nucleus  (IBA)

References

Additional References at PubMed
PMID:8088786   PMID:8088799   PMID:8088827   PMID:8507979   PMID:8530079   PMID:8938429   PMID:10398246   PMID:12477932   PMID:14702039   PMID:15121780   PMID:16344560   PMID:21873635  
PMID:28514442   PMID:29507755   PMID:32296183  


Genomics

Comparative Map Data
ZNF81
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX47,836,902 - 48,002,561 (+)EnsemblGRCh38hg38GRCh38
GRCh38X47,836,902 - 47,925,627 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X47,696,301 - 47,785,026 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X47,581,245 - 47,666,554 (+)NCBINCBI36hg18NCBI36
Build 34X47,452,554 - 47,537,860NCBI
CeleraX51,891,597 - 51,976,926 (+)NCBI
Cytogenetic MapXp11.23NCBI
HuRefX45,408,032 - 45,493,828 (+)NCBIHuRef
CHM1_1X47,727,451 - 47,812,794 (+)NCBICHM1_1
LOC100363372
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X1,030,103 - 1,126,078 (-)NCBI
Rnor_6.0 EnsemblX1,031,035 - 1,076,850 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X1,034,455 - 1,112,282 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X1,029,815 - 1,107,306 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
CeleraX1,604,860 - 1,678,759 (-)NCBICelera
Cytogenetic MapXq11NCBI
Znf81
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955516219,262 - 248,215 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955516215,370 - 312,684 (-)NCBIChiLan1.0ChiLan1.0
ZNF81
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X48,153,161 - 48,248,625 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX48,153,161 - 48,239,640 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X40,258,879 - 40,355,254 (+)NCBIMhudiblu_PPA_v0panPan3
ZNF81
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X41,353,241 - 41,460,082 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX41,353,440 - 41,593,082 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX15,809,514 - 15,839,547 (+)NCBI
ROS_Cfam_1.0X41,569,129 - 41,599,151 (+)NCBI
UMICH_Zoey_3.1X41,556,187 - 41,586,205 (+)NCBI
UNSW_CanFamBas_1.0X41,544,528 - 41,574,532 (+)NCBI
UU_Cfam_GSD_1.0X41,637,711 - 41,667,767 (+)NCBI
Znf81
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X33,627,866 - 33,695,612 (+)NCBI
SpeTri2.0NW_00493650213,468,969 - 13,526,510 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ZNF81
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX42,246,739 - 42,468,024 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X42,246,548 - 42,372,191 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X47,161,461 - 47,199,035 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ZNF81
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X45,001,296 - 45,089,891 (+)NCBI
Znf81
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624978291,506 - 393,153 (+)NCBI

Position Markers
RH66794  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X47,775,847 - 47,775,994UniSTSGRCh37
Build 36X47,660,791 - 47,660,938RGDNCBI36
CeleraX51,971,118 - 51,971,265RGD
Cytogenetic MapXp11.23UniSTS
HuRefX45,488,021 - 45,488,168UniSTS
GeneMap99-GB4 RH MapX142.73UniSTS
NCBI RH MapX197.4UniSTS
AL023610  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X47,744,497 - 47,744,627UniSTSGRCh37
Build 36X47,629,441 - 47,629,571RGDNCBI36
CeleraX51,939,790 - 51,939,920RGD
Cytogenetic MapXp11.23UniSTS
HuRefX45,455,906 - 45,456,036UniSTS
AL023619  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X47,766,951 - 47,767,073UniSTSGRCh37
Build 36X47,651,895 - 47,652,017RGDNCBI36
CeleraX51,962,222 - 51,962,344RGD
Cytogenetic MapXp11.23UniSTS
SHGC-35116  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X47,777,019 - 47,777,150UniSTSGRCh37
Build 36X47,661,963 - 47,662,094RGDNCBI36
CeleraX51,972,290 - 51,972,421RGD
Cytogenetic MapXp11.23UniSTS
HuRefX45,489,193 - 45,489,324UniSTS
Stanford-G3 RH MapX1869.0UniSTS
GeneMap99-GB4 RH MapX143.34UniSTS
Whitehead-RH MapX71.7UniSTS
NCBI RH MapX197.4UniSTS
GeneMap99-G3 RH MapX1074.0UniSTS
RH65534  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X47,775,712 - 47,775,866UniSTSGRCh37
Build 36X47,660,656 - 47,660,810RGDNCBI36
CeleraX51,970,983 - 51,971,137RGD
Cytogenetic MapXp11.23UniSTS
HuRefX45,487,886 - 45,488,040UniSTS
GeneMap99-GB4 RH MapX142.73UniSTS
NCBI RH MapX197.4UniSTS
RH16348  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X47,776,922 - 47,777,103UniSTSGRCh37
Build 36X47,661,866 - 47,662,047RGDNCBI36
CeleraX51,972,193 - 51,972,374RGD
Cytogenetic MapXp11.23UniSTS
HuRefX45,489,096 - 45,489,277UniSTS
GeneMap99-GB4 RH MapX143.34UniSTS
NCBI RH MapX197.4UniSTS
STS-N34520  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X47,781,407 - 47,781,528UniSTSGRCh37
Build 36X47,666,351 - 47,666,472RGDNCBI36
CeleraX51,976,678 - 51,976,799RGD
Cytogenetic MapXp11.23UniSTS
HuRefX45,493,580 - 45,493,701UniSTS
GeneMap99-GB4 RH MapX142.73UniSTS
NCBI RH MapX198.6UniSTS
ZNF81__4722  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X47,780,992 - 47,781,747UniSTSGRCh37
Build 36X47,665,936 - 47,666,691RGDNCBI36
CeleraX51,976,263 - 51,977,018RGD
HuRefX45,493,165 - 45,493,920UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6816
Count of miRNA genes:1478
Interacting mature miRNAs:1967
Transcripts:ENST00000334937, ENST00000338637, ENST00000376950, ENST00000376954, ENST00000483520
Prediction methods:Microtar, Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 5 3 84 1 13 14 7 26 20
Low 2415 2609 1623 530 1594 372 4289 2012 3205 386 1425 1585 174 1 1198 2725 6 1
Below cutoff 18 381 100 93 272 93 66 170 515 26 9 7 6 63

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_007137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_165431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK026716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL022578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL591394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY487248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA219953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA316311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR002896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X68011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z98304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000334937   ⟹   ENSP00000334641
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,836,946 - 47,888,210 (+)Ensembl
RefSeq Acc Id: ENST00000338637   ⟹   ENSP00000341151
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,836,902 - 47,922,256 (+)Ensembl
RefSeq Acc Id: ENST00000376950   ⟹   ENSP00000366149
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,836,970 - 48,002,561 (+)Ensembl
RefSeq Acc Id: ENST00000376954   ⟹   ENSP00000366153
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,836,902 - 47,922,211 (+)Ensembl
RefSeq Acc Id: ENST00000483520
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,846,173 - 47,861,045 (+)Ensembl
RefSeq Acc Id: NM_001378152   ⟹   NP_001365081
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,836,902 - 47,922,211 (+)NCBI
RefSeq Acc Id: NM_001378153   ⟹   NP_001365082
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,836,902 - 47,922,211 (+)NCBI
RefSeq Acc Id: NM_001378154   ⟹   NP_001365083
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,836,902 - 47,925,627 (+)NCBI
RefSeq Acc Id: NM_001378155   ⟹   NP_001365084
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,836,902 - 47,922,211 (+)NCBI
RefSeq Acc Id: NM_007137   ⟹   NP_009068
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,836,902 - 47,925,627 (+)NCBI
GRCh37X47,696,270 - 47,781,655 (+)NCBI
Build 36X47,581,245 - 47,666,554 (+)NCBI Archive
HuRefX45,408,032 - 45,493,828 (+)ENTREZGENE
CHM1_1X47,727,451 - 47,812,794 (+)NCBI
Sequence:
RefSeq Acc Id: NR_165431
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,836,902 - 47,888,215 (+)NCBI
Reference Sequences
RefSeq Acc Id: NP_009068   ⟸   NM_007137
- Peptide Label: isoform 1
- UniProtKB: P51508 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001365083   ⟸   NM_001378154
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001365081   ⟸   NM_001378152
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001365082   ⟸   NM_001378153
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001365084   ⟸   NM_001378155
- Peptide Label: isoform 3
RefSeq Acc Id: ENSP00000334641   ⟸   ENST00000334937
RefSeq Acc Id: ENSP00000366149   ⟸   ENST00000376950
RefSeq Acc Id: ENSP00000366153   ⟸   ENST00000376954
RefSeq Acc Id: ENSP00000341151   ⟸   ENST00000338637
Protein Domains
KRAB

Promoters
RGD ID:6809361
Promoter ID:HG_KWN:66631
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000376954,   NM_007137,   OTTHUMT00000130058,   OTTHUMT00000130059,   UC004DIP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X47,580,884 - 47,581,384 (-)MPROMDB
RGD ID:13605186
Promoter ID:EPDNEW_H28778
Type:initiation region
Name:ZNF81_1
Description:zinc finger protein 81
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,836,945 - 47,837,005EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_007137.3(ZNF81):c.536G>A (p.Ser179Asn) single nucleotide variant Mental retardation, X-linked 45 [RCV000010413] ChrX:47915182 [GRCh38]
ChrX:47774581 [GRCh37]
ChrX:Xp11.23
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.23(chrX:47820327-48344725)x2 copy number gain See cases [RCV000133594] ChrX:47820327..48344725 [GRCh38]
ChrX:47835880..48204160 [GRCh37]
ChrX:47564670..48089104 [NCBI36]
ChrX:Xp11.23
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:47859417-52789530)x3 copy number gain See cases [RCV000052390] ChrX:47859417..52789530 [GRCh38]
ChrX:47835880..52818575 [GRCh37]
ChrX:47603760..52835300 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp11.4-11.23(chrX:41434043-47880733)x1 copy number loss See cases [RCV000053088] ChrX:41434043..47880733 [GRCh38]
ChrX:41293296..47619970 [GRCh37]
ChrX:41178240..47625076 [NCBI36]
ChrX:Xp11.4-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
NM_007137.3(ZNF81):c.-644G>A single nucleotide variant Malignant melanoma [RCV000073198] ChrX:47836507 [GRCh38]
ChrX:47695906 [GRCh37]
ChrX:47580850 [NCBI36]
ChrX:Xp11.23
not provided
NM_007137.3(ZNF81):c.622C>T (p.His208Tyr) single nucleotide variant Malignant melanoma [RCV000073199] ChrX:47915268 [GRCh38]
ChrX:47774667 [GRCh37]
ChrX:47659611 [NCBI36]
ChrX:Xp11.23
not provided
NM_007137.3(ZNF81):c.181+8C>T single nucleotide variant not specified [RCV000081474] ChrX:47888133 [GRCh38]
ChrX:47747532 [GRCh37]
ChrX:Xp11.23
benign
NM_007137.3(ZNF81):c.1264G>A (p.Ala422Thr) single nucleotide variant not provided [RCV000118968] ChrX:47915910 [GRCh38]
ChrX:47775309 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_007137.3(ZNF81):c.18C>T (p.Asp6=) single nucleotide variant History of neurodevelopmental disorder [RCV000720957]|not specified [RCV000118969] ChrX:47846285 [GRCh38]
ChrX:47705684 [GRCh37]
ChrX:Xp11.23
benign
NM_007137.3(ZNF81):c.1911G>A (p.Pro637=) single nucleotide variant History of neurodevelopmental disorder [RCV000720946]|not specified [RCV000118970] ChrX:47916557 [GRCh38]
ChrX:47775956 [GRCh37]
ChrX:Xp11.23
benign|likely benign
NM_007137.3(ZNF81):c.350G>T (p.Gly117Val) single nucleotide variant History of neurodevelopmental disorder [RCV000721021]|not specified [RCV000118971] ChrX:47914996 [GRCh38]
ChrX:47774395 [GRCh37]
ChrX:Xp11.23
benign|likely benign
NM_007137.3(ZNF81):c.470A>G (p.Asn157Ser) single nucleotide variant History of neurodevelopmental disorder [RCV000721066]|not provided [RCV000118972]|not specified [RCV000515154] ChrX:47915116 [GRCh38]
ChrX:47774515 [GRCh37]
ChrX:Xp11.23
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007137.3(ZNF81):c.554C>T (p.Ser185Leu) single nucleotide variant History of neurodevelopmental disorder [RCV000720961]|not specified [RCV000118973] ChrX:47915200 [GRCh38]
ChrX:47774599 [GRCh37]
ChrX:Xp11.23
benign|likely benign
NM_007137.3(ZNF81):c.638C>A (p.Ala213Glu) single nucleotide variant History of neurodevelopmental disorder [RCV000720933]|not specified [RCV000118974] ChrX:47915284 [GRCh38]
ChrX:47774683 [GRCh37]
ChrX:Xp11.23
benign|likely benign
NM_007137.3(ZNF81):c.8C>T (p.Ala3Val) single nucleotide variant History of neurodevelopmental disorder [RCV000720931]|not specified [RCV000118975] ChrX:47846275 [GRCh38]
ChrX:47705674 [GRCh37]
ChrX:Xp11.23
benign|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.23(chrX:47820327-48344725)x3 copy number gain See cases [RCV000050670] ChrX:47820327..48344725 [GRCh38]
ChrX:47835880..48204160 [GRCh37]
ChrX:47564670..48089104 [NCBI36]
ChrX:Xp11.23
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:43361870-50931794)x3 copy number gain See cases [RCV000134956] ChrX:43361870..50931794 [GRCh38]
ChrX:43221119..50674794 [GRCh37]
ChrX:43106063..50691534 [NCBI36]
ChrX:Xp11.3-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp11.3-11.23(chrX:44765664-49343053)x3 copy number gain See cases [RCV000137271] ChrX:44765664..49343053 [GRCh38]
ChrX:44624910..49218180 [GRCh37]
ChrX:44509854..49105124 [NCBI36]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp11.23(chrX:47880674-48344725)x2 copy number gain See cases [RCV000141612] ChrX:47880674..48344725 [GRCh38]
ChrX:47835880..48204160 [GRCh37]
ChrX:47625017..48089104 [NCBI36]
ChrX:Xp11.23
uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:46971389-54130971)x3 copy number gain See cases [RCV000141567] ChrX:46971389..54130971 [GRCh38]
ChrX:46818746..53957191 [GRCh37]
ChrX:46703690..54174129 [NCBI36]
ChrX:Xp11.3-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp11.23(chrX:47820357-48344664)x2 copy number gain See cases [RCV000142503] ChrX:47820357..48344664 [GRCh38]
ChrX:47835880..48204099 [GRCh37]
ChrX:47564700..48089043 [NCBI36]
ChrX:Xp11.23
uncertain significance
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp11.3-11.23(chrX:47437831-47845763)x2 copy number gain See cases [RCV000143111] ChrX:47437831..47845763 [GRCh38]
ChrX:47297230..47705162 [GRCh37]
ChrX:47182174..47590106 [NCBI36]
ChrX:Xp11.3-11.23
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_007137.3(ZNF81):c.417A>G (p.Ile139Met) single nucleotide variant not specified [RCV000192524] ChrX:47915063 [GRCh38]
ChrX:47774462 [GRCh37]
ChrX:Xp11.23
benign|likely benign|uncertain significance
NM_007137.3(ZNF81):c.1495A>G (p.Ile499Val) single nucleotide variant not provided [RCV000428722]|not specified [RCV000193441] ChrX:47916141 [GRCh38]
ChrX:47775540 [GRCh37]
ChrX:Xp11.23
benign|likely benign|uncertain significance
NM_007137.3(ZNF81):c.509A>G (p.Lys170Arg) single nucleotide variant not specified [RCV000193547] ChrX:47915155 [GRCh38]
ChrX:47774554 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_007137.3(ZNF81):c.12C>T (p.Asn4=) single nucleotide variant not specified [RCV000192541] ChrX:47846279 [GRCh38]
ChrX:47705678 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_007137.3(ZNF81):c.350G>A (p.Gly117Asp) single nucleotide variant not specified [RCV000194483] ChrX:47914996 [GRCh38]
ChrX:47774395 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_007137.3(ZNF81):c.*2624A>G single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000282508] ChrX:47919256 [GRCh38]
ChrX:47778655 [GRCh37]
ChrX:Xp11.23
likely benign
NM_007137.3(ZNF81):c.*4003G>A single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000264895] ChrX:47920635 [GRCh38]
ChrX:47780034 [GRCh37]
ChrX:Xp11.23
likely benign
NM_007137.3(ZNF81):c.*455G>A single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000286711] ChrX:47917087 [GRCh38]
ChrX:47776486 [GRCh37]
ChrX:Xp11.23
likely benign
NM_007137.3(ZNF81):c.*1216G>C single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000270097] ChrX:47917848 [GRCh38]
ChrX:47777247 [GRCh37]
ChrX:Xp11.23
likely benign
NM_007137.3(ZNF81):c.*2050C>T single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000271033] ChrX:47918682 [GRCh38]
ChrX:47778081 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_007137.3(ZNF81):c.*4485G>T single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000261775] ChrX:47921117 [GRCh38]
ChrX:47780516 [GRCh37]
ChrX:Xp11.23
benign
NM_007137.3(ZNF81):c.*1782C>T single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000365770] ChrX:47918414 [GRCh38]
ChrX:47777813 [GRCh37]
ChrX:Xp11.23
likely benign
NM_007137.3(ZNF81):c.*3474T>C single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000308043] ChrX:47920106 [GRCh38]
ChrX:47779505 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_007137.3(ZNF81):c.*3674C>T single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000309261] ChrX:47920306 [GRCh38]
ChrX:47779705 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_007137.3(ZNF81):c.-146C>T single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000357513] ChrX:47846122 [GRCh38]
ChrX:47705521 [GRCh37]
ChrX:Xp11.23
likely benign
NM_007137.3(ZNF81):c.*3879C>G single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000359386] ChrX:47920511 [GRCh38]
ChrX:47779910 [GRCh37]
ChrX:Xp11.23
likely benign
NM_007137.3(ZNF81):c.*4100G>A single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000360669] ChrX:47920732 [GRCh38]
ChrX:47780131 [GRCh37]
ChrX:Xp11.23
likely benign
NM_007137.3(ZNF81):c.*55C>G single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000274928] ChrX:47916687 [GRCh38]
ChrX:47776086 [GRCh37]
ChrX:Xp11.23
likely benign
NM_007137.3(ZNF81):c.*1050A>G single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000314698] ChrX:47917682 [GRCh38]
ChrX:47777081 [GRCh37]
ChrX:Xp11.23
benign
NM_007137.3(ZNF81):c.*4164A>G single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000315868] ChrX:47920796 [GRCh38]
ChrX:47780195 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_007137.3(ZNF81):c.*3G>A single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000366839] ChrX:47916635 [GRCh38]
ChrX:47776034 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_007137.3(ZNF81):c.*2549A>G single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000317811] ChrX:47919181 [GRCh38]
ChrX:47778580 [GRCh37]
ChrX:Xp11.23
likely benign
NM_007137.3(ZNF81):c.*1170G>T single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000369364] ChrX:47917802 [GRCh38]
ChrX:47777201 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_007137.3(ZNF81):c.*1368C>T single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000306391] ChrX:47918000 [GRCh38]
ChrX:47777399 [GRCh37]
ChrX:Xp11.23
benign
NM_007137.3(ZNF81):c.*65A>G single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000327758] ChrX:47916697 [GRCh38]
ChrX:47776096 [GRCh37]
ChrX:Xp11.23
likely benign
NM_007137.3(ZNF81):c.*630A>G single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000280981] ChrX:47917262 [GRCh38]
ChrX:47776661 [GRCh37]
ChrX:Xp11.23
likely benign
NM_007137.3(ZNF81):c.*2171_*2172del deletion Non-syndromic X-linked intellectual disability [RCV000321439] ChrX:47918803..47918804 [GRCh38]
ChrX:47778202..47778203 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_007137.3(ZNF81):c.*2605G>A single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000372495] ChrX:47919237 [GRCh38]
ChrX:47778636 [GRCh37]
ChrX:Xp11.23
likely benign
NM_007137.3(ZNF81):c.*4304A>G single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000375032] ChrX:47920936 [GRCh38]
ChrX:47780335 [GRCh37]
ChrX:Xp11.23
likely benign
NM_007137.3(ZNF81):c.*2191C>T single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000376180] ChrX:47918823 [GRCh38]
ChrX:47778222 [GRCh37]
ChrX:Xp11.23
likely benign
NM_007137.3(ZNF81):c.*607A>G single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000377873] ChrX:47917239 [GRCh38]
ChrX:47776638 [GRCh37]
ChrX:Xp11.23
benign
NM_007137.3(ZNF81):c.*284T>C single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000378874] ChrX:47916916 [GRCh38]
ChrX:47776315 [GRCh37]
ChrX:Xp11.23
likely benign
NM_007137.3(ZNF81):c.147A>G (p.Val49=) single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000330239] ChrX:47888091 [GRCh38]
ChrX:47747490 [GRCh37]
ChrX:Xp11.23
likely benign
NM_007137.3(ZNF81):c.*277T>C single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000326632] ChrX:47916909 [GRCh38]
ChrX:47776308 [GRCh37]
ChrX:Xp11.23
benign
NM_007137.3(ZNF81):c.*5212A>G single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000382290] ChrX:47921844 [GRCh38]
ChrX:47781243 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_007137.3(ZNF81):c.1539C>A (p.Leu513=) single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000354133] ChrX:47916185 [GRCh38]
ChrX:47775584 [GRCh37]
ChrX:Xp11.23
likely benign
NM_007137.3(ZNF81):c.*5311G>A single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000287813] ChrX:47921943 [GRCh38]
ChrX:47781342 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_007137.3(ZNF81):c.*211G>A single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000287751] ChrX:47916843 [GRCh38]
ChrX:47776242 [GRCh37]
ChrX:Xp11.23
benign
NM_007137.3(ZNF81):c.*4715C>G single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000330809] ChrX:47921347 [GRCh38]
ChrX:47780746 [GRCh37]
ChrX:Xp11.23
benign
NM_007137.3(ZNF81):c.*5127G>C single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000332021] ChrX:47921759 [GRCh38]
ChrX:47781158 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_007137.3(ZNF81):c.1923C>T (p.Ser641=) single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000333228] ChrX:47916569 [GRCh38]
ChrX:47775968 [GRCh37]
ChrX:Xp11.23
likely benign
NM_007137.3(ZNF81):c.*176del deletion Non-syndromic X-linked intellectual disability [RCV000384664] ChrX:47916804 [GRCh38]
ChrX:47776203 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_007137.3(ZNF81):c.999T>C (p.Thr333=) single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000355438] ChrX:47915645 [GRCh38]
ChrX:47775044 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_007137.3(ZNF81):c.229G>A (p.Glu77Lys) single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000290476] ChrX:47895892 [GRCh38]
ChrX:47755291 [GRCh37]
ChrX:Xp11.23
likely benign
NM_007137.3(ZNF81):c.*2851T>C single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000293291] ChrX:47919483 [GRCh38]
ChrX:47778882 [GRCh37]
ChrX:Xp11.23
benign
NM_007137.3(ZNF81):c.*2656T>C single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000337496] ChrX:47919288 [GRCh38]
ChrX:47778687 [GRCh37]
ChrX:Xp11.23
benign
NM_007137.3(ZNF81):c.*720A>G single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000391763] ChrX:47917352 [GRCh38]
ChrX:47776751 [GRCh37]
ChrX:Xp11.23
likely benign
NM_007137.3(ZNF81):c.*1029G>T single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000392559] ChrX:47917661 [GRCh38]
ChrX:47777060 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_007137.3(ZNF81):c.*5062A>G single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000295749] ChrX:47921694 [GRCh38]
ChrX:47781093 [GRCh37]
ChrX:Xp11.23
benign
NM_007137.3(ZNF81):c.*456T>A single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000339423] ChrX:47917088 [GRCh38]
ChrX:47776487 [GRCh37]
ChrX:Xp11.23
likely benign
NM_007137.3(ZNF81):c.*4848G>A single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000385315] ChrX:47921480 [GRCh38]
ChrX:47780879 [GRCh37]
ChrX:Xp11.23
likely benign
NM_007137.3(ZNF81):c.-116A>G single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000260339] ChrX:47846152 [GRCh38]
ChrX:47705551 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_007137.3(ZNF81):c.*4105C>T single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000260579] ChrX:47920737 [GRCh38]
ChrX:47780136 [GRCh37]
ChrX:Xp11.23
benign
NM_007137.3(ZNF81):c.130C>T (p.Arg44Cys) single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000296718] ChrX:47888074 [GRCh38]
ChrX:47747473 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_007137.3(ZNF81):c.*802C>T single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000298758] ChrX:47917434 [GRCh38]
ChrX:47776833 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_007137.3(ZNF81):c.*3525A>C single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000344170] ChrX:47920157 [GRCh38]
ChrX:47779556 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_007137.3(ZNF81):c.*5461G>T single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000398313] ChrX:47922093 [GRCh38]
ChrX:47781492 [GRCh37]
ChrX:Xp11.23
benign
NM_007137.3(ZNF81):c.*699C>T single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000338466] ChrX:47917331 [GRCh38]
ChrX:47776730 [GRCh37]
ChrX:Xp11.23
likely benign
NM_007137.3(ZNF81):c.*5422A>G single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000347416] ChrX:47922054 [GRCh38]
ChrX:47781453 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_007137.3(ZNF81):c.277+10T>C single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000347734] ChrX:47895950 [GRCh38]
ChrX:47755349 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_007137.3(ZNF81):c.1080C>T (p.Cys360=) single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000404580] ChrX:47915726 [GRCh38]
ChrX:47775125 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_007137.3(ZNF81):c.*2719C>A single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000387591] ChrX:47919351 [GRCh38]
ChrX:47778750 [GRCh37]
ChrX:Xp11.23
benign
NM_007137.3(ZNF81):c.*3640A>G single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000407397] ChrX:47920272 [GRCh38]
ChrX:47779671 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_007137.3(ZNF81):c.*3399T>A single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000407404] ChrX:47920031 [GRCh38]
ChrX:47779430 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_007137.3(ZNF81):c.*2268del deletion Non-syndromic X-linked intellectual disability [RCV000267595] ChrX:47918896 [GRCh38]
ChrX:47778295 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_007137.3(ZNF81):c.*4053T>G single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000306002] ChrX:47920685 [GRCh38]
ChrX:47780084 [GRCh37]
ChrX:Xp11.23
likely benign
NM_007137.3(ZNF81):c.*975C>G single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000351332] ChrX:47917607 [GRCh38]
ChrX:47777006 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_007137.3(ZNF81):c.*2988G>A single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000352744] ChrX:47919620 [GRCh38]
ChrX:47779019 [GRCh37]
ChrX:Xp11.23
likely benign
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.23(chrX:47705458-47863717)x3 copy number gain See cases [RCV000446937] ChrX:47705458..47863717 [GRCh37]
ChrX:Xp11.23
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_007137.3(ZNF81):c.598A>C (p.Lys200Gln) single nucleotide variant not specified [RCV000500910] ChrX:47915244 [GRCh38]
ChrX:47774643 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
NM_007137.3(ZNF81):c.1283C>T (p.Thr428Ile) single nucleotide variant not specified [RCV000503005] ChrX:47915929 [GRCh38]
ChrX:47775328 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xp11.23(chrX:47768271-48053241)x3 copy number gain See cases [RCV000511953] ChrX:47768271..48053241 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp11.3-11.23(chrX:46326268-48801984)x2 copy number gain See cases [RCV000511234] ChrX:46326268..48801984 [GRCh37]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh37/hg19 Xp11.23(chrX:47768271-47859630)x2 copy number gain See cases [RCV000511160] ChrX:47768271..47859630 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp11.23(chrX:47580733-47711302)x3 copy number gain See cases [RCV000510850] ChrX:47580733..47711302 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp11.3-11.23(chrX:43507300-48929622) copy number gain not provided [RCV000767648] ChrX:43507300..48929622 [GRCh37]
ChrX:Xp11.3-11.23
pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
NM_007137.3(ZNF81):c.1883del (p.His628fs) deletion not provided [RCV000512875] ChrX:47916529 [GRCh38]
ChrX:47775928 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_007137.3(ZNF81):c.550C>G (p.Leu184Val) single nucleotide variant History of neurodevelopmental disorder [RCV000721084] ChrX:47915196 [GRCh38]
ChrX:47774595 [GRCh37]
ChrX:Xp11.23
likely benign
NM_007137.3(ZNF81):c.129A>G (p.Arg43=) single nucleotide variant History of neurodevelopmental disorder [RCV000721046] ChrX:47888073 [GRCh38]
ChrX:47747472 [GRCh37]
ChrX:Xp11.23
likely benign
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
GRCh37/hg19 Xp11.23(chrX:47770203-48074408)x1 copy number loss not provided [RCV000753532] ChrX:47770203..48074408 [GRCh37]
ChrX:Xp11.23
benign
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp11.23(chrX:47633270-48271336)x2 copy number gain not provided [RCV000847060] ChrX:47633270..48271336 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
GRCh37/hg19 Xp11.23(chrX:47686106-48283388)x3 copy number gain not provided [RCV001007300] ChrX:47686106..48283388 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13156 AgrOrtholog
COSMIC ZNF81 COSMIC
Ensembl Genes ENSG00000197779 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000334641 UniProtKB/TrEMBL
  ENSP00000341151 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000366149 UniProtKB/TrEMBL
  ENSP00000366153 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000334937 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000338637 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000376950 UniProtKB/TrEMBL
  ENST00000376954 UniProtKB/Swiss-Prot
GTEx ENSG00000197779 GTEx
HGNC ID HGNC:13156 ENTREZGENE
Human Proteome Map ZNF81 Human Proteome Map
InterPro KRAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KRAB_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_sf UniProtKB/Swiss-Prot
  Znf_C2H2_type UniProtKB/Swiss-Prot
KEGG Report hsa:347344 UniProtKB/Swiss-Prot
NCBI Gene 347344 ENTREZGENE
OMIM 300498 OMIM
  314998 OMIM
Pfam KRAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-C2H2 UniProtKB/Swiss-Prot
PharmGKB PA37730 PharmGKB
PROSITE KRAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot
SMART KRAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZnF_C2H2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF109640 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57667 UniProtKB/Swiss-Prot
UniProt B1AJV1_HUMAN UniProtKB/TrEMBL
  B1AJV2_HUMAN UniProtKB/TrEMBL
  L8E7Y0_HUMAN UniProtKB/TrEMBL
  P51508 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q6RX22 UniProtKB/Swiss-Prot
  Q96QH6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 ZNF81  zinc finger protein 81  MRX45  mental retardation, X-linked 45  Data Merged 737654 PROVISIONAL
2011-08-23 ZNF81  zinc finger protein 81  ZNF81  zinc finger protein 81  Symbol and/or name change 5135510 APPROVED