POF1B (POF1B actin binding protein) - Rat Genome Database

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Gene: POF1B (POF1B actin binding protein) Homo sapiens
Analyze
Symbol: POF1B
Name: POF1B actin binding protein
RGD ID: 1351618
HGNC Page HGNC
Description: Exhibits actin filament binding activity. Involved in actin filament organization; bicellular tight junction assembly; and epithelial cell morphogenesis. Localizes to actin filament; adherens junction; and bicellular tight junction. Implicated in primary ovarian insufficiency.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: FLJ22792; POF; POF2B; premature ovarian failure protein 1B; premature ovarian failure, 1B
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
GRCh38.p13 EnsemblX85,277,396 - 85,379,717 (-)EnsemblGRCh38hg38GRCh38
GRCh38X85,277,396 - 85,379,709 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X84,532,402 - 84,634,670 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X84,419,058 - 84,521,404 (-)NCBINCBI36hg18NCBI36
Build 34X84,338,546 - 84,440,893NCBI
CeleraX84,771,759 - 84,874,115 (-)NCBI
Cytogenetic MapXq21.1NCBI
HuRefX78,105,395 - 78,207,259 (-)NCBIHuRef
CHM1_1X84,426,026 - 84,528,381 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:8125298   PMID:9001815   PMID:11299520   PMID:12477932   PMID:14702039   PMID:15459172   PMID:15489334   PMID:15772651   PMID:16773570   PMID:17123869   PMID:18029348   PMID:20360068  
PMID:20734064   PMID:21145461   PMID:21182205   PMID:21800051   PMID:21940798   PMID:25084053   PMID:25324306   PMID:25468996   PMID:26186194   PMID:26618866   PMID:26816005   PMID:27545878  
PMID:27591049   PMID:27634302   PMID:27705803   PMID:28514442   PMID:28675297   PMID:28977666   PMID:29117568   PMID:29859926   PMID:30699358   PMID:31010829   PMID:31180492   PMID:31594818  
PMID:32296183   PMID:33144569  


Genomics

Comparative Map Data
POF1B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX85,277,396 - 85,379,717 (-)EnsemblGRCh38hg38GRCh38
GRCh38X85,277,396 - 85,379,709 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X84,532,402 - 84,634,670 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X84,419,058 - 84,521,404 (-)NCBINCBI36hg18NCBI36
Build 34X84,338,546 - 84,440,893NCBI
CeleraX84,771,759 - 84,874,115 (-)NCBI
Cytogenetic MapXq21.1NCBI
HuRefX78,105,395 - 78,207,259 (-)NCBIHuRef
CHM1_1X84,426,026 - 84,528,381 (-)NCBICHM1_1
Pof1b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X111,548,124 - 111,608,408 (-)NCBIGRCm39mm39
GRCm39 EnsemblX111,548,128 - 111,608,348 (-)Ensembl
GRCm38X112,638,427 - 112,698,711 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX112,638,431 - 112,698,651 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X109,752,036 - 109,812,260 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X108,755,371 - 108,815,595 (-)NCBImm8
CeleraX99,259,694 - 99,319,351 (-)NCBICelera
Cytogenetic MapXE1NCBI
Pof1b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X77,683,128 - 77,749,827 (-)NCBI
Rnor_6.0 EnsemblX84,099,618 - 84,167,717 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X84,099,618 - 84,167,717 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X84,048,665 - 84,115,822 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X101,220,259 - 101,288,788 (-)NCBIRGSC3.4rn4RGSC3.4
CeleraX78,983,162 - 79,047,222 (-)NCBICelera
Cytogenetic MapXq31NCBI
Pof1b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555294,136,480 - 4,224,537 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555294,137,746 - 4,224,542 (-)NCBIChiLan1.0ChiLan1.0
POF1B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X84,457,716 - 84,554,569 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX84,457,716 - 84,554,627 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X74,347,322 - 74,444,182 (-)NCBIMhudiblu_PPA_v0panPan3
POF1B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X66,233,225 - 66,342,297 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX66,214,255 - 66,342,904 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX56,990,661 - 57,099,614 (-)NCBI
ROS_Cfam_1.0X67,569,114 - 67,673,467 (-)NCBI
UMICH_Zoey_3.1X65,212,794 - 65,321,752 (-)NCBI
UNSW_CanFamBas_1.0X66,849,598 - 66,958,554 (-)NCBI
UU_Cfam_GSD_1.0X66,441,806 - 66,550,764 (-)NCBI
Pof1b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X59,709,734 - 59,781,039 (-)NCBI
SpeTri2.0NW_0049365476,031,281 - 6,101,451 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
POF1B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX68,503,179 - 68,579,893 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X68,503,170 - 68,579,917 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X78,325,924 - 78,402,665 (-)NCBISscrofa10.2Sscrofa10.2susScr3
POF1B
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X74,126,425 - 74,234,330 (-)NCBI
Pof1b
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248523,022,251 - 3,136,807 (+)NCBI

Position Markers
G65252  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X84,534,252 - 84,534,568UniSTSGRCh37
Build 36X84,420,908 - 84,421,224RGDNCBI36
CeleraX84,773,616 - 84,773,932RGD
Cytogenetic MapXq21.2UniSTS
HuRefX78,107,250 - 78,107,566UniSTS
G65264  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X84,570,613 - 84,570,869UniSTSGRCh37
Build 36X84,457,269 - 84,457,525RGDNCBI36
CeleraX84,809,980 - 84,810,236RGD
Cytogenetic MapXq21.2UniSTS
HuRefX78,143,383 - 78,143,639UniSTS
G65257  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X84,585,840 - 84,586,200UniSTSGRCh37
Build 36X84,472,496 - 84,472,856RGDNCBI36
CeleraX84,825,207 - 84,825,567RGD
Cytogenetic MapXq21.2UniSTS
HuRefX78,158,401 - 78,158,761UniSTS
G65265  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X84,600,787 - 84,601,265UniSTSGRCh37
Build 36X84,487,443 - 84,487,921RGDNCBI36
CeleraX84,840,154 - 84,840,632RGD
Cytogenetic MapXq21.2UniSTS
G65256  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X84,606,254 - 84,606,548UniSTSGRCh37
Build 36X84,492,910 - 84,493,204RGDNCBI36
CeleraX84,845,621 - 84,845,915RGD
Cytogenetic MapXq21.2UniSTS
HuRefX78,178,790 - 78,179,083UniSTS
G65266  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X84,614,358 - 84,614,833UniSTSGRCh37
Build 36X84,501,014 - 84,501,489RGDNCBI36
CeleraX84,853,726 - 84,854,201RGD
Cytogenetic MapXq21.2UniSTS
HuRefX78,187,140 - 78,187,615UniSTS
G65271  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X84,622,531 - 84,622,952UniSTSGRCh37
Build 36X84,509,187 - 84,509,608RGDNCBI36
CeleraX84,861,899 - 84,862,320RGD
Cytogenetic MapXq21.2UniSTS
HuRefX78,195,311 - 78,195,732UniSTS
G65225  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X84,537,065 - 84,537,416UniSTSGRCh37
Build 36X84,423,721 - 84,424,072RGDNCBI36
CeleraX84,776,429 - 84,776,780RGD
Cytogenetic MapXq21.2UniSTS
HuRefX78,110,063 - 78,110,414UniSTS
G65275  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X84,558,304 - 84,558,680UniSTSGRCh37
Build 36X84,444,960 - 84,445,336RGDNCBI36
CeleraX84,797,671 - 84,798,047RGD
Cytogenetic MapXq21.2UniSTS
HuRefX78,131,075 - 78,131,451UniSTS
G65255  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X84,559,257 - 84,559,564UniSTSGRCh37
Build 36X84,445,913 - 84,446,220RGDNCBI36
CeleraX84,798,624 - 84,798,931RGD
Cytogenetic MapXq21.2UniSTS
HuRefX78,132,028 - 78,132,335UniSTS
G65268  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X84,560,694 - 84,561,105UniSTSGRCh37
Build 36X84,447,350 - 84,447,761RGDNCBI36
CeleraX84,800,061 - 84,800,472RGD
Cytogenetic MapXq21.2UniSTS
HuRefX78,133,464 - 78,133,875UniSTS
G65259  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X84,561,082 - 84,561,491UniSTSGRCh37
Build 36X84,447,738 - 84,448,147RGDNCBI36
CeleraX84,800,449 - 84,800,858RGD
Cytogenetic MapXq21.2UniSTS
HuRefX78,133,852 - 78,134,261UniSTS
G65260  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X84,562,953 - 84,563,360UniSTSGRCh37
Build 36X84,449,609 - 84,450,016RGDNCBI36
CeleraX84,802,320 - 84,802,727RGD
Cytogenetic MapXq21.2UniSTS
HuRefX78,135,723 - 78,136,130UniSTS
G65226  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X84,569,299 - 84,569,591UniSTSGRCh37
Build 36X84,455,955 - 84,456,247RGDNCBI36
CeleraX84,808,666 - 84,808,958RGD
Cytogenetic MapXq21.2UniSTS
HuRefX78,142,069 - 78,142,361UniSTS
AL022445  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X84,636,125 - 84,636,245UniSTSGRCh37
Build 36X84,522,781 - 84,522,901RGDNCBI36
CeleraX84,875,492 - 84,875,612RGD
Cytogenetic MapXq21.2UniSTS
HuRefX78,208,636 - 78,208,756UniSTS
DXS7672  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X84,569,422 - 84,569,598UniSTSGRCh37
Build 36X84,456,078 - 84,456,254RGDNCBI36
CeleraX84,808,789 - 84,808,965RGD
Cytogenetic MapXq21.2UniSTS
HuRefX78,142,192 - 78,142,368UniSTS
DXS7604  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X84,623,837 - 84,623,983UniSTSGRCh37
Build 36X84,510,493 - 84,510,639RGDNCBI36
CeleraX84,863,205 - 84,863,351RGD
Cytogenetic MapXq21.2UniSTS
HuRefX78,196,617 - 78,196,763UniSTS
POF1B__5741  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X84,532,216 - 84,533,137UniSTSGRCh37
Build 36X84,418,872 - 84,419,793RGDNCBI36
CeleraX84,771,580 - 84,772,501RGD
HuRefX78,105,216 - 78,106,135UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:597
Count of miRNA genes:449
Interacting mature miRNAs:484
Transcripts:ENST00000262753, ENST00000373145
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


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 573 76 32 108 237 36 1301 4 56 180 106 76 3 696
Low 727 888 908 200 713 112 389 473 285 177 461 1231 92 447 161 5 2
Below cutoff 1120 1858 732 282 779 282 2441 1603 2895 131 770 209 5 1 744 1831 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001307940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF309774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI591162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL117325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z82216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000262753   ⟹   ENSP00000262753
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX85,277,396 - 85,379,665 (-)Ensembl
RefSeq Acc Id: ENST00000373145   ⟹   ENSP00000362238
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX85,282,115 - 85,379,717 (-)Ensembl
RefSeq Acc Id: NM_001307940   ⟹   NP_001294869
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X85,282,115 - 85,379,665 (-)NCBI
CHM1_1X84,430,752 - 84,528,381 (-)NCBI
Sequence:
RefSeq Acc Id: NM_024921   ⟹   NP_079197
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X85,277,396 - 85,379,665 (-)NCBI
GRCh37X84,532,395 - 84,634,748 (-)RGD
Build 36X84,419,058 - 84,521,404 (-)NCBI Archive
CeleraX84,771,759 - 84,874,115 (-)RGD
HuRefX78,105,395 - 78,207,259 (-)RGD
CHM1_1X84,426,026 - 84,528,381 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005262203   ⟹   XP_005262260
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X85,277,396 - 85,379,709 (-)NCBI
GRCh37X84,532,395 - 84,634,748 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_079197   ⟸   NM_024921
- Peptide Label: isoform 1
- UniProtKB: Q8WVV4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005262260   ⟸   XM_005262203
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001294869   ⟸   NM_001307940
- Peptide Label: isoform 2
- UniProtKB: Q8WVV4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000362238   ⟸   ENST00000373145
RefSeq Acc Id: ENSP00000262753   ⟸   ENST00000262753

Promoters
RGD ID:6808711
Promoter ID:HG_KWN:67400
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:ENST00000276124,   ENST00000373149,   ENST00000395380,   NM_024921,   OTTHUMT00000057393,   UC004EES.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36X84,521,054 - 84,521,554 (-)MPROMDB
RGD ID:13627564
Promoter ID:EPDNEW_H29057
Type:initiation region
Name:POF1B_1
Description:premature ovarian failure, 1B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X85,379,665 - 85,379,725EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical 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
NM_024921.4(POF1B):c.986G>A (p.Arg329Gln) single nucleotide variant Premature ovarian failure 2b [RCV000011541]|Premature ovarian insufficiency [RCV000626964]|not provided [RCV000953408] ChrX:85308188 [GRCh38]
ChrX:84563194 [GRCh37]
ChrX:Xq21.1
pathogenic|likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024921.3(POF1B):c.854+4156G>T single nucleotide variant Lung cancer [RCV000102850] ChrX:85326793 [GRCh38]
ChrX:84581799 [GRCh37]
ChrX:Xq21.1
uncertain significance
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: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)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 Xq21.1-21.31(chrX:79372269-91308122)x1 copy number loss See cases [RCV000050772] ChrX:79372269..91308122 [GRCh38]
ChrX:78627766..90563121 [GRCh37]
ChrX:78514422..90449777 [NCBI36]
ChrX:Xq21.1-21.31
pathogenic
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 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-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 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq21.1-21.2(chrX:81762602-86457999)x1 copy number loss See cases [RCV000051707] ChrX:81762602..86457999 [GRCh38]
ChrX:81018101..85713002 [GRCh37]
ChrX:80904757..85599658 [NCBI36]
ChrX:Xq21.1-21.2
pathogenic
GRCh38/hg38 Xq21.1-21.2(chrX:81765008-86444979)x0 copy number loss See cases [RCV000051709] ChrX:81765008..86444979 [GRCh38]
ChrX:81020507..85699982 [GRCh37]
ChrX:80907163..85586638 [NCBI36]
ChrX:Xq21.1-21.2
pathogenic
GRCh38/hg38 Xq21.1-23(chrX:77544283-110500317)x1 copy number loss See cases [RCV000051668] ChrX:77544283..110500317 [GRCh38]
ChrX:76799762..109743545 [GRCh37]
ChrX:76686418..109630201 [NCBI36]
ChrX:Xq21.1-23
pathogenic
GRCh38/hg38 Xq21.1-21.2(chrX:80329330-86150446)x1 copy number loss See cases [RCV000051670] ChrX:80329330..86150446 [GRCh38]
ChrX:79584829..85405450 [GRCh37]
ChrX:79471485..85292106 [NCBI36]
ChrX:Xq21.1-21.2
pathogenic
GRCh38/hg38 Xq21.1-21.2(chrX:81762601-86471468)x1 copy number loss See cases [RCV000051673] ChrX:81762601..86471468 [GRCh38]
ChrX:81018100..85726471 [GRCh37]
ChrX:80904756..85613127 [NCBI36]
ChrX:Xq21.1-21.2
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 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
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 Xq21.1-25(chrX:81261589-126519353)x3 copy number gain See cases [RCV000052438] ChrX:81261589..126519353 [GRCh38]
ChrX:80517088..125653336 [GRCh37]
ChrX:80403744..125481017 [NCBI36]
ChrX:Xq21.1-25
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-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-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-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-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-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: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 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-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 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
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 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
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 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
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 Xp22.33-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 Xp11.22-q21.31(chrX:53985575-92203108)x1 copy number loss See cases [RCV000135306] ChrX:53985575..92203108 [GRCh38]
ChrX:54012008..91458107 [GRCh37]
ChrX:54028733..91344763 [NCBI36]
ChrX:Xp11.22-q21.31
pathogenic
GRCh38/hg38 Xq21.1-21.2(chrX:81930916-85965282)x1 copy number loss See cases [RCV000135328] ChrX:81930916..85965282 [GRCh38]
ChrX:81186415..85220287 [GRCh37]
ChrX:81073071..85106943 [NCBI36]
ChrX:Xq21.1-21.2
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
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 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
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-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 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
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 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
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 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
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 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
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 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
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 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
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-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 Xq21.1-21.31(chrX:80722314-92152619)x0 copy number loss See cases [RCV000139635] ChrX:80722314..92152619 [GRCh38]
ChrX:79977813..91407618 [GRCh37]
ChrX:79864469..91294274 [NCBI36]
ChrX:Xq21.1-21.31
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-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 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xq21.1-23(chrX:81109470-109442793)x1 copy number loss See cases [RCV000142372] ChrX:81109470..109442793 [GRCh38]
ChrX:80364969..108686022 [GRCh37]
ChrX:80251625..108572678 [NCBI36]
ChrX:Xq21.1-23
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
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 Xq21.1-21.2(chrX:85089622-85949735)x2 copy number gain See cases [RCV000143106] ChrX:85089622..85949735 [GRCh38]
ChrX:84344628..85204740 [GRCh37]
ChrX:84231284..85091396 [NCBI36]
ChrX:Xq21.1-21.2
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 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
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-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 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
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
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
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
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: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:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
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:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [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:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..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:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
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_024921.4(POF1B):c.1371C>G (p.Gly457=) single nucleotide variant Premature ovarian failure 2b [RCV000271839] ChrX:85305857 [GRCh38]
ChrX:84560863 [GRCh37]
ChrX:Xq21.1
benign|likely benign
NM_024921.4(POF1B):c.*835C>T single nucleotide variant Premature ovarian failure 2b [RCV000273063] ChrX:85278586 [GRCh38]
ChrX:84533592 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_024921.4(POF1B):c.1572C>G (p.Leu524=) single nucleotide variant Premature ovarian failure 2b [RCV000306993] ChrX:85303483 [GRCh38]
ChrX:84558489 [GRCh37]
ChrX:Xq21.1
benign
NM_024921.4(POF1B):c.*1686G>T single nucleotide variant Premature ovarian failure 2b [RCV000355998] ChrX:85277735 [GRCh38]
ChrX:84532741 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_024921.4(POF1B):c.*42T>G single nucleotide variant Premature ovarian failure 2b [RCV000360702] ChrX:85279379 [GRCh38]
ChrX:84534385 [GRCh37]
ChrX:Xq21.1
likely benign
NM_024921.4(POF1B):c.*1380T>G single nucleotide variant Premature ovarian failure 2b [RCV000361609] ChrX:85278041 [GRCh38]
ChrX:84533047 [GRCh37]
ChrX:Xq21.1
benign|uncertain significance
NM_024921.4(POF1B):c.1374C>T (p.Asn458=) single nucleotide variant Premature ovarian failure 2b [RCV000366410]|not provided [RCV000962899] ChrX:85305854 [GRCh38]
ChrX:84560860 [GRCh37]
ChrX:Xq21.1
benign|likely benign
NM_024921.4(POF1B):c.1045A>T (p.Met349Leu) single nucleotide variant Premature ovarian failure 2b [RCV000367385] ChrX:85308129 [GRCh38]
ChrX:84563135 [GRCh37]
ChrX:Xq21.1
benign
NM_024921.4(POF1B):c.716G>C (p.Cys239Ser) single nucleotide variant Premature ovarian failure 2b [RCV000277647]|not provided [RCV000973062] ChrX:85345867 [GRCh38]
ChrX:84600873 [GRCh37]
ChrX:Xq21.1
benign|likely benign
NM_024921.4(POF1B):c.*368G>T single nucleotide variant Premature ovarian failure 2b [RCV000279213] ChrX:85279053 [GRCh38]
ChrX:84534059 [GRCh37]
ChrX:Xq21.1
benign
NM_024921.4(POF1B):c.-61C>T single nucleotide variant Premature ovarian failure 2b [RCV000318211] ChrX:85379658 [GRCh38]
ChrX:84634663 [GRCh37]
ChrX:Xq21.1
benign|likely benign
NM_024921.4(POF1B):c.*44T>G single nucleotide variant Premature ovarian failure 2b [RCV000305986] ChrX:85279377 [GRCh38]
ChrX:84534383 [GRCh37]
ChrX:Xq21.1
benign
NM_024921.4(POF1B):c.113A>C (p.Gln38Pro) single nucleotide variant Premature ovarian failure 2b [RCV000281980]|not provided [RCV000974339] ChrX:85379342 [GRCh38]
ChrX:84634347 [GRCh37]
ChrX:Xq21.1
benign|likely benign
NM_024921.4(POF1B):c.619C>T (p.Pro207Ser) single nucleotide variant Premature ovarian failure 2b [RCV000371822]|not provided [RCV000968808] ChrX:85345964 [GRCh38]
ChrX:84600970 [GRCh37]
ChrX:Xq21.1
benign|likely benign
NM_024921.4(POF1B):c.1644T>C (p.Thr548=) single nucleotide variant Premature ovarian failure 2b [RCV000401532] ChrX:85303411 [GRCh38]
ChrX:84558417 [GRCh37]
ChrX:Xq21.1
likely benign
NM_024921.4(POF1B):c.*1112G>A single nucleotide variant Premature ovarian failure 2b [RCV000327061] ChrX:85278309 [GRCh38]
ChrX:84533315 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_024921.4(POF1B):c.*775G>T single nucleotide variant Premature ovarian failure 2b [RCV000328176] ChrX:85278646 [GRCh38]
ChrX:84533652 [GRCh37]
ChrX:Xq21.1
benign|likely benign
NM_024921.4(POF1B):c.1300C>A (p.Gln434Lys) single nucleotide variant Premature ovarian failure 2b [RCV000331348] ChrX:85306198 [GRCh38]
ChrX:84561204 [GRCh37]
ChrX:Xq21.1
likely benign
NM_024921.4(POF1B):c.641A>G (p.Gln214Arg) single nucleotide variant Premature ovarian failure 2b [RCV000332657] ChrX:85345942 [GRCh38]
ChrX:84600948 [GRCh37]
ChrX:Xq21.1
benign|likely benign
NM_024921.4(POF1B):c.*1019C>A single nucleotide variant Premature ovarian failure 2b [RCV000381627] ChrX:85278402 [GRCh38]
ChrX:84533408 [GRCh37]
ChrX:Xq21.1
benign
NM_024921.4(POF1B):c.*352A>G single nucleotide variant Premature ovarian failure 2b [RCV000334327] ChrX:85279069 [GRCh38]
ChrX:84534075 [GRCh37]
ChrX:Xq21.1
benign|likely benign
NM_024921.4(POF1B):c.*755G>A single nucleotide variant Premature ovarian failure 2b [RCV000387576] ChrX:85278666 [GRCh38]
ChrX:84533672 [GRCh37]
ChrX:Xq21.1
benign|likely benign
NM_024921.4(POF1B):c.*669T>C single nucleotide variant Premature ovarian failure 2b [RCV000293176] ChrX:85278752 [GRCh38]
ChrX:84533758 [GRCh37]
ChrX:Xq21.1
benign
NM_024921.4(POF1B):c.*584A>C single nucleotide variant Premature ovarian failure 2b [RCV000388715] ChrX:85278837 [GRCh38]
ChrX:84533843 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_024921.4(POF1B):c.*132T>C single nucleotide variant Premature ovarian failure 2b [RCV000341068] ChrX:85279289 [GRCh38]
ChrX:84534295 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_024921.4(POF1B):c.*312A>C single nucleotide variant Premature ovarian failure 2b [RCV000396077] ChrX:85279109 [GRCh38]
ChrX:84534115 [GRCh37]
ChrX:Xq21.1
benign
NM_024921.4(POF1B):c.*44_*45insG insertion Premature ovarian failure 2b [RCV000396087] ChrX:85279376..85279377 [GRCh38]
ChrX:84534382..84534383 [GRCh37]
ChrX:Xq21.1
likely benign
NM_024921.4(POF1B):c.*268T>G single nucleotide variant Premature ovarian failure 2b [RCV000300224] ChrX:85279153 [GRCh38]
ChrX:84534159 [GRCh37]
ChrX:Xq21.1
benign
NM_024921.4(POF1B):c.*635T>C single nucleotide variant Premature ovarian failure 2b [RCV000352843] ChrX:85278786 [GRCh38]
ChrX:84533792 [GRCh37]
ChrX:Xq21.1
uncertain significance
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
NM_001330574.2(ZNF711):c.*1411G>A single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000336262]|Premature ovarian failure 2b [RCV000323479]|ZNF711-Related X-linked Mental Retardation [RCV001168457] ChrX:85273239 [GRCh38]
ChrX:84528245 [GRCh37]
ChrX:Xq21.1
benign|likely benign
NM_001330574.2(ZNF711):c.*632A>G single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000349795]|Premature ovarian failure 2b [RCV000358346]|ZNF711-Related X-linked Mental Retardation [RCV001168454] ChrX:85272460 [GRCh38]
ChrX:84527466 [GRCh37]
ChrX:Xq21.1
benign
NM_024921.4(POF1B):c.*1849G>A single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000382782]|Premature ovarian failure 2b [RCV000402392] ChrX:85277572 [GRCh38]
ChrX:84532578 [GRCh37]
ChrX:Xq21.1
benign
NM_024921.4(POF1B):c.*1626G>A single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000327426]|Premature ovarian failure 2b [RCV000265713] ChrX:85277795 [GRCh38]
ChrX:84532801 [GRCh37]
ChrX:Xq21.1
benign
NM_024921.4(POF1B):c.*1173C>A single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000292246]|Premature ovarian failure 2b [RCV000267025] ChrX:85278248 [GRCh38]
ChrX:84533254 [GRCh37]
ChrX:Xq21.1
likely benign
NM_001330574.2(ZNF711):c.*1260G>A single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000314765]|Premature ovarian failure 2b [RCV000268292]|ZNF711-Related X-linked Mental Retardation [RCV001168456] ChrX:85273088 [GRCh38]
ChrX:84528094 [GRCh37]
ChrX:Xq21.1
benign|likely benign
NM_024921.4(POF1B):c.*1808A>G single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000270019]|Premature ovarian failure 2b [RCV000301203] ChrX:85277613 [GRCh38]
ChrX:84532619 [GRCh37]
ChrX:Xq21.1
likely benign
NM_024921.4(POF1B):c.*1431A>C single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000384275]|Premature ovarian failure 2b [RCV000302162] ChrX:85277990 [GRCh38]
ChrX:84532996 [GRCh37]
ChrX:Xq21.1
benign
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 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
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:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [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:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-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 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:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [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 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-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-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
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-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_024921.4(POF1B):c.1317+3A>T single nucleotide variant not provided [RCV000498073] ChrX:85306178 [GRCh38]
ChrX:84561184 [GRCh37]
ChrX:Xq21.1
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
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 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
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 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286) copy number loss See cases [RCV000510947] ChrX:74560735..116609286 [GRCh37]
ChrX:Xq13.3-24
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
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-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xq21.1(chrX:84444331-84563220)x3 copy number gain not provided [RCV000753635] ChrX:84444331..84563220 [GRCh37]
ChrX:Xq21.1
benign
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 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
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:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [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:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_024921.4(POF1B):c.1527G>A (p.Leu509=) single nucleotide variant not provided [RCV000894947] ChrX:85304382 [GRCh38]
ChrX:84559388 [GRCh37]
ChrX:Xq21.1
benign
NM_024921.4(POF1B):c.*484C>T single nucleotide variant Premature ovarian failure 2b [RCV001166805] ChrX:85278937 [GRCh38]
ChrX:84533943 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_024921.4(POF1B):c.1764+3A>G single nucleotide variant Premature ovarian failure 2b [RCV001168514]|not provided [RCV000900187] ChrX:85282200 [GRCh38]
ChrX:84537206 [GRCh37]
ChrX:Xq21.1
benign
NM_024921.4(POF1B):c.660T>C (p.Asn220=) single nucleotide variant not provided [RCV000928124] ChrX:85345923 [GRCh38]
ChrX:84600929 [GRCh37]
ChrX:Xq21.1
likely benign
NM_024921.4(POF1B):c.1566+10G>A single nucleotide variant Premature ovarian failure 2b [RCV001169254]|not provided [RCV000905161] ChrX:85304333 [GRCh38]
ChrX:84559339 [GRCh37]
ChrX:Xq21.1
benign
NM_024921.4(POF1B):c.1765-10del deletion not provided [RCV000898713] ChrX:85279436 [GRCh38]
ChrX:84534442 [GRCh37]
ChrX:Xq21.1
benign
NC_000023.10:g.(?_83372068)_(86924394_?)del deletion not provided [RCV001033923] ChrX:83372068..86924394 [GRCh37]
ChrX:Xq21.1-21.31
pathogenic
NC_000023.10:g.(?_82763333)_(86890775_?)del deletion not provided [RCV001033944] ChrX:82763333..86890775 [GRCh37]
ChrX:Xq21.1-21.31
pathogenic
NC_000023.10:g.(?_83126460)_(86924394_?)del deletion not provided [RCV001032392] ChrX:83126460..86924394 [GRCh37]
ChrX:Xq21.1-21.31
pathogenic
NC_000023.10:g.(?_83576897)_(86924394_?)del deletion not provided [RCV001033207] ChrX:83576897..86924394 [GRCh37]
ChrX:Xq21.1-21.31
pathogenic
NM_024921.4(POF1B):c.76C>T (p.Gln26Ter) single nucleotide variant Premature ovarian failure 2b [RCV000778899] ChrX:85379379 [GRCh38]
ChrX:84634384 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_024921.4(POF1B):c.315A>C (p.Thr105=) single nucleotide variant not provided [RCV000930774] ChrX:85367734 [GRCh38]
ChrX:84622739 [GRCh37]
ChrX:Xq21.1
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_024921.4(POF1B):c.85C>A (p.His29Asn) single nucleotide variant Premature ovarian failure 2b [RCV001166855] ChrX:85379370 [GRCh38]
ChrX:84634375 [GRCh37]
ChrX:Xq21.1
likely benign
NM_024921.4(POF1B):c.*1113T>G single nucleotide variant Premature ovarian failure 2b [RCV001166275] ChrX:85278308 [GRCh38]
ChrX:84533314 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_024921.4(POF1B):c.*780G>A single nucleotide variant Premature ovarian failure 2b [RCV001166277] ChrX:85278641 [GRCh38]
ChrX:84533647 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_024921.4(POF1B):c.960G>A (p.Met320Ile) single nucleotide variant Premature ovarian failure 2b [RCV001166332] ChrX:85308214 [GRCh38]
ChrX:84563220 [GRCh37]
ChrX:Xq21.1
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_024921.4(POF1B):c.220G>T (p.Val74Leu) single nucleotide variant Premature ovarian failure 2b [RCV001166333] ChrX:85379235 [GRCh38]
ChrX:84634240 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_024921.4(POF1B):c.1595A>G (p.Tyr532Cys) single nucleotide variant Premature ovarian failure 2b [RCV001169253] ChrX:85303460 [GRCh38]
ChrX:84558466 [GRCh37]
ChrX:Xq21.1
uncertain significance
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
NM_024921.4(POF1B):c.*1744A>G single nucleotide variant Premature ovarian failure 2b [RCV001169193] ChrX:85277677 [GRCh38]
ChrX:84532683 [GRCh37]
ChrX:Xq21.1
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xq13.3-21.31(chrX:74667077-90312981)x1 copy number loss not provided [RCV000847338] ChrX:74667077..90312981 [GRCh37]
ChrX:Xq13.3-21.31
pathogenic
NM_024921.4(POF1B):c.*686C>G single nucleotide variant Premature ovarian failure 2b [RCV001166804] ChrX:85278735 [GRCh38]
ChrX:84533741 [GRCh37]
ChrX:Xq21.1
likely benign
NM_024921.4(POF1B):c.*313C>T single nucleotide variant Premature ovarian failure 2b [RCV001166806] ChrX:85279108 [GRCh38]
ChrX:84534114 [GRCh37]
ChrX:Xq21.1
benign
NM_024921.4(POF1B):c.1383G>A (p.Thr461=) single nucleotide variant Premature ovarian failure 2b [RCV001169256]|not provided [RCV000886044] ChrX:85305845 [GRCh38]
ChrX:84560851 [GRCh37]
ChrX:Xq21.1
benign|likely benign
NM_024921.4(POF1B):c.943C>T (p.Arg315Cys) single nucleotide variant not provided [RCV000906752] ChrX:85314446 [GRCh38]
ChrX:84569452 [GRCh37]
ChrX:Xq21.1
benign
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NC_000023.10:g.(?_84634178)_(85404112_?)del deletion not provided [RCV001033627] ChrX:84634178..85404112 [GRCh37]
ChrX:Xq21.2
pathogenic
NM_024921.4(POF1B):c.1402A>C (p.Arg468=) single nucleotide variant Premature ovarian failure 2b [RCV001169255] ChrX:85305826 [GRCh38]
ChrX:84560832 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_024921.4(POF1B):c.1348C>A (p.Gln450Lys) single nucleotide variant Premature ovarian failure 2b [RCV001169257] ChrX:85305880 [GRCh38]
ChrX:84560886 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_024921.4(POF1B):c.*837T>G single nucleotide variant Premature ovarian failure 2b [RCV001166276] ChrX:85278584 [GRCh38]
ChrX:84533590 [GRCh37]
ChrX:Xq21.1
uncertain significance
NC_000023.10:g.(?_83372068)_(86890775_?)del deletion not provided [RCV001032728] ChrX:83372068..86890775 [GRCh37]
ChrX:Xq21.1-21.31
pathogenic
NC_000023.10:g.(?_82763333)_(86924394_?)del deletion not provided [RCV001033898] ChrX:82763333..86924394 [GRCh37]
ChrX:Xq21.1-21.31
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 copy number loss not provided [RCV001259005] ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13711 AgrOrtholog
COSMIC POF1B COSMIC
Ensembl Genes ENSG00000124429 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000262753 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000362238 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000262753 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000373145 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000124429 GTEx
HGNC ID HGNC:13711 ENTREZGENE
Human Proteome Map POF1B Human Proteome Map
InterPro POF1B UniProtKB/Swiss-Prot
KEGG Report hsa:79983 UniProtKB/Swiss-Prot
NCBI Gene 79983 ENTREZGENE
OMIM 300603 OMIM
  300604 OMIM
PANTHER PTHR22546 UniProtKB/Swiss-Prot
PharmGKB PA134937695 PharmGKB
UniProt POF1B_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A8K2U5 UniProtKB/Swiss-Prot
  Q5H9E9 UniProtKB/Swiss-Prot
  Q5H9F0 UniProtKB/Swiss-Prot
  Q8NG12 UniProtKB/Swiss-Prot
  Q9H5Y2 UniProtKB/Swiss-Prot
  Q9H738 UniProtKB/Swiss-Prot
  Q9H744 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 POF1B  POF1B actin binding protein    POF1B, actin binding protein  Symbol and/or name change 5135510 APPROVED
2017-08-15 POF1B  POF1B, actin binding protein    premature ovarian failure, 1B  Symbol and/or name change 5135510 APPROVED