NHS (NHS actin remodeling regulator) - Rat Genome Database

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Gene: NHS (NHS actin remodeling regulator) Homo sapiens
Analyze
Symbol: NHS
Name: NHS actin remodeling regulator
RGD ID: 1352036
HGNC Page HGNC
Description: Predicted to be involved in cell differentiation and lens development in camera-type eye. Localizes to Golgi apparatus; cell junction; and nuclear body. Implicated in Nance-Horan syndrome and cataract 40.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: cataract, congenital, total; CCT; congenital cataracts and dental anomalies protein; CTRCT40; CXN; DKFZp781F2016; DKFZp781L0254; FLJ22511; Nance-Horan syndrome (congenital cataracts and dental anomalies); Nance-Horan syndrome protein; SCML1
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 EnsemblX17,375,420 - 17,735,994 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX17,375,200 - 17,735,994 (+)EnsemblGRCh38hg38GRCh38
GRCh38X17,375,200 - 17,735,994 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X17,393,323 - 17,754,114 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X17,303,464 - 17,664,035 (+)NCBINCBI36hg18NCBI36
Build 34X17,153,199 - 17,513,768NCBI
CeleraX21,515,624 - 21,873,432 (+)NCBI
Cytogenetic MapXp22.2-p22.13NCBI
HuRefX15,153,213 - 15,512,673 (+)NCBIHuRef
CHM1_1X17,424,184 - 17,784,494 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

References

Additional References at PubMed
PMID:1971992   PMID:10394933   PMID:10588643   PMID:12173028   PMID:12477932   PMID:14564667   PMID:14595111   PMID:15370543   PMID:15466011   PMID:15623749   PMID:15772651   PMID:16675532  
PMID:16964243   PMID:17081983   PMID:17417607   PMID:18949062   PMID:19414485   PMID:19913121   PMID:20301552   PMID:20332100   PMID:20628086   PMID:20882036   PMID:21559051   PMID:21873635  
PMID:22229851   PMID:22544364   PMID:23566852   PMID:24968223   PMID:25091991   PMID:25266737   PMID:25468996   PMID:26496610   PMID:26760575   PMID:27684187   PMID:27880917   PMID:28061824  
PMID:28464487   PMID:28557584   PMID:28922055   PMID:29402928   PMID:29507755   PMID:30642278   PMID:31755796   PMID:32694731  


Genomics

Comparative Map Data
NHS
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX17,375,420 - 17,735,994 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX17,375,200 - 17,735,994 (+)EnsemblGRCh38hg38GRCh38
GRCh38X17,375,200 - 17,735,994 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X17,393,323 - 17,754,114 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X17,303,464 - 17,664,035 (+)NCBINCBI36hg18NCBI36
Build 34X17,153,199 - 17,513,768NCBI
CeleraX21,515,624 - 21,873,432 (+)NCBI
Cytogenetic MapXp22.2-p22.13NCBI
HuRefX15,153,213 - 15,512,673 (+)NCBIHuRef
CHM1_1X17,424,184 - 17,784,494 (+)NCBICHM1_1
Nhs
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X160,616,286 - 160,942,437 (-)NCBIGRCm39mm39
GRCm39 EnsemblX160,616,292 - 160,942,726 (-)Ensembl
GRCm38X161,833,290 - 162,159,441 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX161,833,296 - 162,159,730 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X158,274,200 - 158,597,722 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X157,180,373 - 157,503,895 (-)NCBImm8
CeleraX145,069,096 - 145,393,381 (-)NCBICelera
Cytogenetic MapXF4NCBI
cM MapX74.17NCBI
Nhs
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X32,551,974 - 32,892,961 (+)NCBI
Rnor_6.0 EnsemblX34,623,405 - 34,673,742 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X34,312,102 - 34,675,912 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X34,656,286 - 35,018,650 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X53,321,827 - 53,720,326 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX32,845,030 - 33,180,545 (+)NCBICelera
Cytogenetic MapXq14NCBI
Nhs
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955519599,682 - 918,762 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955519596,216 - 919,352 (-)NCBIChiLan1.0ChiLan1.0
NHS
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X17,357,898 - 17,728,178 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX17,358,416 - 17,728,178 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X9,988,584 - 10,359,110 (+)NCBIMhudiblu_PPA_v0panPan3
NHS
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X13,487,919 - 13,834,869 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX13,488,515 - 13,831,386 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX13,339,834 - 13,686,761 (+)NCBI
ROS_Cfam_1.0X13,451,227 - 13,798,368 (+)NCBI
UMICH_Zoey_3.1X13,518,311 - 13,864,906 (+)NCBI
UNSW_CanFamBas_1.0X13,504,402 - 13,851,231 (+)NCBI
UU_Cfam_GSD_1.0X13,573,553 - 13,920,854 (+)NCBI
Nhs
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X6,887,249 - 6,971,110 (+)NCBI
SpeTri2.0NW_0049364706,632,724 - 6,967,878 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NHS
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX13,855,340 - 14,209,664 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X13,854,950 - 14,209,085 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X14,951,338 - 15,302,337 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NHS
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X15,803,386 - 16,183,809 (+)NCBI
ChlSab1.1 EnsemblX16,168,609 - 16,183,787 (+)Ensembl
Nhs
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248292,185,410 - 2,520,869 (+)NCBI

Position Markers
DXS1195  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X17,534,592 - 17,534,828UniSTSGRCh37
Build 36X17,444,513 - 17,444,749RGDNCBI36
CeleraX21,653,901 - 21,654,137RGD
Cytogenetic MapXp22.13UniSTS
HuRefX15,293,510 - 15,293,746UniSTS
Marshfield Genetic MapX22.72UniSTS
Marshfield Genetic MapX22.72RGD
Genethon Genetic MapX28.2UniSTS
deCODE Assembly MapX30.31UniSTS
Whitehead-RH MapX16.1UniSTS
Whitehead-YAC Contig MapX UniSTS
NCBI RH MapX10.0UniSTS
DXS8019  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X17,741,821 - 17,741,979UniSTSGRCh37
Build 36X17,651,742 - 17,651,900RGDNCBI36
CeleraX21,861,139 - 21,861,298RGD
Cytogenetic MapXp22.13UniSTS
Cytogenetic MapXp22.2UniSTS
HuRefX15,500,305 - 15,500,469UniSTS
Marshfield Genetic MapX23.26UniSTS
Marshfield Genetic MapX23.26RGD
Genethon Genetic MapX28.3UniSTS
deCODE Assembly MapX30.31UniSTS
Whitehead-YAC Contig MapX UniSTS
DXS6747  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X17,696,326 - 17,696,531UniSTSGRCh37
Build 36X17,606,247 - 17,606,452RGDNCBI36
CeleraX21,815,641 - 21,815,846RGD
Cytogenetic MapXp22.13UniSTS
Whitehead-YAC Contig MapX UniSTS
DXS418  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X17,745,117 - 17,745,597UniSTSGRCh37
GRCh37X17,741,818 - 17,741,961UniSTSGRCh37
Build 36X17,651,739 - 17,651,882RGDNCBI36
CeleraX21,861,136 - 21,861,280RGD
CeleraX21,864,436 - 21,864,916UniSTS
Cytogenetic MapXp22.13UniSTS
HuRefX15,500,302 - 15,500,451UniSTS
HuRefX15,503,626 - 15,504,106UniSTS
RH93889  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X17,753,711 - 17,753,853UniSTSGRCh37
Build 36X17,663,632 - 17,663,774RGDNCBI36
CeleraX21,873,029 - 21,873,171RGD
Cytogenetic MapXp22.13UniSTS
Cytogenetic MapXp22UniSTS
HuRefX15,512,270 - 15,512,412UniSTS
GeneMap99-GB4 RH MapX92.32UniSTS
DXS43  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X16,228,828 - 16,229,569UniSTSGRCh37
GRCh37X16,219,269 - 16,219,355UniSTSGRCh37
GRCh37X16,229,336 - 16,229,560UniSTSGRCh37
Build 36X16,139,257 - 16,139,481RGDNCBI36
CeleraX20,338,256 - 20,338,350UniSTS
CeleraX20,348,330 - 20,348,554RGD
CeleraX20,347,822 - 20,348,563UniSTS
Cytogenetic MapXp22.13UniSTS
HuRefX13,985,182 - 13,985,919UniSTS
HuRefX13,985,686 - 13,985,910UniSTS
DXS1317  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X17,466,043 - 17,466,109UniSTSGRCh37
Build 36X17,375,964 - 17,376,030RGDNCBI36
CeleraX21,586,772 - 21,586,838RGD
Cytogenetic MapXp22.13UniSTS
HuRefX15,225,803 - 15,225,869UniSTS
DXS7175  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X17,482,725 - 17,482,806UniSTSGRCh37
Build 36X17,392,646 - 17,392,727RGDNCBI36
CeleraX21,603,363 - 21,603,444RGD
Cytogenetic MapXp22.13UniSTS
HuRefX15,242,205 - 15,242,286UniSTS
RH119797  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X17,740,354 - 17,740,679UniSTSGRCh37
Build 36X17,650,275 - 17,650,600RGDNCBI36
CeleraX21,859,672 - 21,859,997RGD
Cytogenetic MapXp22.13UniSTS
HuRefX15,498,843 - 15,499,168UniSTS
TNG Radiation Hybrid MapX4954.0UniSTS
DXS7993  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X17,569,250 - 17,569,353UniSTSGRCh37
Build 36X17,479,171 - 17,479,274RGDNCBI36
CeleraX21,688,564 - 21,688,667RGD
Cytogenetic MapXp22.13UniSTS
HuRefX15,327,881 - 15,327,984UniSTS
DXS8184  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X17,569,211 - 17,569,317UniSTSGRCh37
Build 36X17,479,132 - 17,479,238RGDNCBI36
CeleraX21,688,525 - 21,688,631RGD
Cytogenetic MapXp22.13UniSTS
HuRefX15,327,842 - 15,327,948UniSTS
DXS7991  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X17,465,839 - 17,466,105UniSTSGRCh37
Build 36X17,375,760 - 17,376,026RGDNCBI36
CeleraX21,586,568 - 21,586,834RGD
Cytogenetic MapXp22.13UniSTS
HuRefX15,225,599 - 15,225,865UniSTS
Whitehead-RH MapX5.5UniSTS
Whitehead-YAC Contig MapX UniSTS
NCBI RH MapX10.0UniSTS
DXS7661  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X17,621,313 - 17,621,462UniSTSGRCh37
Build 36X17,531,234 - 17,531,383RGDNCBI36
CeleraX21,740,632 - 21,740,781RGD
Cytogenetic MapXp22.13UniSTS
DXS7174  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X17,610,343 - 17,610,555UniSTSGRCh37
Build 36X17,520,264 - 17,520,476RGDNCBI36
CeleraX21,729,661 - 21,729,873RGD
Cytogenetic MapXp22.13UniSTS
HuRefX15,368,754 - 15,368,966UniSTS
DXS7670  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X17,578,740 - 17,578,887UniSTSGRCh37
Build 36X17,488,661 - 17,488,808RGDNCBI36
CeleraX21,698,055 - 21,698,202RGD
Cytogenetic MapXp22.13UniSTS
HuRefX15,337,455 - 15,337,602UniSTS
L77751  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X17,447,141 - 17,447,305UniSTSGRCh37
Build 36X17,357,062 - 17,357,226RGDNCBI36
CeleraX21,568,955 - 21,569,121RGD
Cytogenetic MapXp22.13UniSTS
HuRefX15,207,160 - 15,207,324UniSTS
G09285  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X17,459,709 - 17,459,882UniSTSGRCh37
Build 36X17,369,630 - 17,369,803RGDNCBI36
Cytogenetic MapXp22.13UniSTS
HuRefX15,219,496 - 15,219,669UniSTS
DXS418  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp22.13UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4129
Count of miRNA genes:1082
Interacting mature miRNAs:1395
Transcripts:ENST00000380060, ENST00000398097, ENST00000485305
Prediction methods:Microtar, Miranda, Pita, Pita,Targetscan, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


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 47 578 70 9 1 10 723 8 481 71 186 84 6 8 644 1
Low 2342 1360 1261 232 683 73 2896 1153 3022 331 1257 1484 167 1 1196 1461 4 1
Below cutoff 37 1041 375 364 761 364 713 1022 227 16 10 34 2 683

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001136024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001291867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001291868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC122692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL034404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL845433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY436752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY456992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY456993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY633488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC171763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ017161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX294650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR936788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ988776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z93022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z93242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000380060   ⟹   ENSP00000369400
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX17,375,420 - 17,735,994 (+)Ensembl
RefSeq Acc Id: ENST00000398097   ⟹   ENSP00000381170
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX17,635,293 - 17,735,978 (+)Ensembl
RefSeq Acc Id: ENST00000485305
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX17,719,263 - 17,724,370 (+)Ensembl
RefSeq Acc Id: ENST00000615422   ⟹   ENSP00000480113
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX17,686,782 - 17,735,978 (+)Ensembl
RefSeq Acc Id: ENST00000617601   ⟹   ENSP00000478433
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX17,635,293 - 17,735,991 (+)Ensembl
RefSeq Acc Id: ENST00000648929   ⟹   ENSP00000497676
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX17,656,139 - 17,687,894 (+)Ensembl
RefSeq Acc Id: ENST00000676302   ⟹   ENSP00000502262
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX17,375,200 - 17,735,994 (+)Ensembl
RefSeq Acc Id: NM_001136024   ⟹   NP_001129496
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X17,635,500 - 17,735,994 (+)NCBI
GRCh37X17,393,357 - 17,754,114 (+)NCBI
HuRefX15,153,213 - 15,512,673 (+)ENTREZGENE
CHM1_1X17,683,802 - 17,784,494 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001291867   ⟹   NP_001278796
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X17,375,200 - 17,735,994 (+)NCBI
CHM1_1X17,424,184 - 17,784,494 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001291868   ⟹   NP_001278797
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X17,635,500 - 17,735,994 (+)NCBI
CHM1_1X17,683,802 - 17,784,494 (+)NCBI
Sequence:
RefSeq Acc Id: NM_198270   ⟹   NP_938011
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X17,375,200 - 17,735,994 (+)NCBI
GRCh37X17,393,357 - 17,754,114 (+)NCBI
Build 36X17,303,464 - 17,664,035 (+)NCBI Archive
HuRefX15,153,213 - 15,512,673 (+)ENTREZGENE
CHM1_1X17,424,184 - 17,784,494 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545528   ⟹   XP_011543830
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X17,719,422 - 17,735,994 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_938011   ⟸   NM_198270
- Peptide Label: isoform 1
- UniProtKB: Q6T4R5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001129496   ⟸   NM_001136024
- Peptide Label: isoform 2
- UniProtKB: Q6T4R5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001278796   ⟸   NM_001291867
- Peptide Label: isoform 3
- UniProtKB: Q6T4R5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001278797   ⟸   NM_001291868
- Peptide Label: isoform 4
- UniProtKB: Q6T4R5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011543830   ⟸   XM_011545528
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000381170   ⟸   ENST00000398097
RefSeq Acc Id: ENSP00000497676   ⟸   ENST00000648929
RefSeq Acc Id: ENSP00000480113   ⟸   ENST00000615422
RefSeq Acc Id: ENSP00000478433   ⟸   ENST00000617601
RefSeq Acc Id: ENSP00000369400   ⟸   ENST00000380060
RefSeq Acc Id: ENSP00000502262   ⟸   ENST00000676302

Promoters
RGD ID:6809070
Promoter ID:HG_KWN:66132
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000059120
Position:
Human AssemblyChrPosition (strand)Source
Build 36X17,303,406 - 17,304,207 (+)MPROMDB
RGD ID:13604848
Promoter ID:EPDNEW_H28609
Type:initiation region
Name:NHS_1
Description:NHS actin remodeling regulator
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
GRCh38X17,375,418 - 17,375,478EPDNEW
RGD ID:6809071
Promoter ID:HG_KWN:66136
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:UC004CXY.1,   UC004CXZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X17,563,031 - 17,563,531 (+)MPROMDB

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_001291867.2(NHS):c.4433_4436delinsA (p.Ser1478_Ser1479delinsAsn) indel not provided [RCV000520534] ChrX:17731941..17731944 [GRCh38]
ChrX:17750061..17750064 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001291867.2(NHS):c.2450dup (p.Ser818fs) duplication Nance-Horan syndrome [RCV000011770] ChrX:17726555..17726556 [GRCh38]
ChrX:17744675..17744676 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001291867.2(NHS):c.3522del (p.Leu1175fs) deletion Nance-Horan syndrome [RCV000011771] ChrX:17727627 [GRCh38]
ChrX:17745747 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001291867.2(NHS):c.718+1dup duplication Nance-Horan syndrome [RCV000011773] ChrX:17687893..17687894 [GRCh38]
ChrX:17706013..17706014 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001291867.2(NHS):c.916-2A>G single nucleotide variant Nance-Horan syndrome [RCV000011775] ChrX:17721439 [GRCh38]
ChrX:17739559 [GRCh37]
ChrX:Xp22.13
pathogenic
NHS, 500-KB TRIPLICATION variation Cataract 40 [RCV000011776] ChrX:Xp22.13 pathogenic
NHS, 4.8-KB DEL deletion Cataract 40 [RCV000011777] ChrX:Xp22.13 pathogenic
NM_001291867.2(NHS):c.852+1del deletion Nance-Horan syndrome [RCV000170469] ChrX:17692468 [GRCh38]
ChrX:17710588 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001291867.2(NHS):c.1180C>T (p.Arg394Ter) single nucleotide variant Nance-Horan syndrome [RCV000011772]|not provided [RCV000082793] ChrX:17724370 [GRCh38]
ChrX:17742490 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001291867.2(NHS):c.115C>T (p.Gln39Ter) single nucleotide variant Nance-Horan syndrome [RCV000011774] ChrX:17375872 [GRCh38]
ChrX:17393995 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_198270.3(NHS):c.565+123559G>C single nucleotide variant Lung cancer [RCV000102453] ChrX:17499881 [GRCh38]
ChrX:17518004 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_198270.3(NHS):c.566-6583C>G single nucleotide variant Lung cancer [RCV000102454] ChrX:17681159 [GRCh38]
ChrX:17699279 [GRCh37]
ChrX:Xp22.13
uncertain significance
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 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: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 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
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 Xp22.2-22.13(chrX:17167171-18804175)x1 copy number loss See cases [RCV000053060] ChrX:17167171..18804175 [GRCh38]
ChrX:17185294..18822293 [GRCh37]
ChrX:17095215..18732214 [NCBI36]
ChrX:Xp22.2-22.13
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 Xp22.33-11.23(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: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 Xp22.33-11.21(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 Xp22.33-11.21(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 Xp22.33-22.11(chrX:253129-23023165)x1 copy number loss See cases [RCV000052993] ChrX:253129..23023165 [GRCh38]
ChrX:169796..23041282 [GRCh37]
ChrX:109796..22951203 [NCBI36]
ChrX:Xp22.33-22.11
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-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 Xp22.33-22.12(chrX:10679-21811030)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|See cases [RCV000052970] ChrX:10679..21811030 [GRCh38]
ChrX:60679..21829148 [GRCh37]
ChrX:679..21739069 [NCBI36]
ChrX:Xp22.33-22.12
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 Xp22.33-11.22(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_198270.3(NHS):c.1118G>A (p.Arg373Gln) single nucleotide variant Malignant melanoma [RCV000073143] ChrX:17724371 [GRCh38]
ChrX:17742491 [GRCh37]
ChrX:17652412 [NCBI36]
ChrX:Xp22.13
not provided
NM_198270.3(NHS):c.3619C>T (p.Arg1207Cys) single nucleotide variant Malignant melanoma [RCV000063956] ChrX:17727788 [GRCh38]
ChrX:17745908 [GRCh37]
ChrX:17655829 [NCBI36]
ChrX:Xp22.13
not provided
NM_001291867.2(NHS):c.1714C>T (p.Pro572Ser) single nucleotide variant History of neurodevelopmental disorder [RCV000715313]|Nance-Horan syndrome [RCV000549596]|not specified [RCV000082794] ChrX:17725820 [GRCh38]
ChrX:17743940 [GRCh37]
ChrX:Xp22.13
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001291867.2(NHS):c.1965T>G (p.Pro655=) single nucleotide variant History of neurodevelopmental disorder [RCV000716963]|not specified [RCV000082795] ChrX:17726071 [GRCh38]
ChrX:17744191 [GRCh37]
ChrX:Xp22.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001291867.2(NHS):c.211C>T (p.Pro71Ser) single nucleotide variant History of neurodevelopmental disorder [RCV000717108]|Nance-Horan syndrome [RCV001078975]|none provided [RCV001282895]|not provided [RCV000224466]|not specified [RCV000173025] ChrX:17375968 [GRCh38]
ChrX:17394091 [GRCh37]
ChrX:Xp22.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001291867.2(NHS):c.207_209GCC[3] (p.Pro73del) microsatellite History of neurodevelopmental disorder [RCV000715946]|Nance-Horan syndrome [RCV000550294]|not specified [RCV000082797] ChrX:17375962..17375964 [GRCh38]
ChrX:17394085..17394087 [GRCh37]
ChrX:Xp22.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_001291867.2(NHS):c.2330T>C (p.Phe777Ser) single nucleotide variant not provided [RCV000871790]|not specified [RCV000082798] ChrX:17726436 [GRCh38]
ChrX:17744556 [GRCh37]
ChrX:Xp22.13
benign|likely benign
NM_001291867.2(NHS):c.2348G>A (p.Gly783Glu) single nucleotide variant not provided [RCV000082799] ChrX:17726454 [GRCh38]
ChrX:17744574 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001291867.2(NHS):c.302_337dup (p.Glu101_Ala112dup) duplication History of neurodevelopmental disorder [RCV000717937]|Nance-Horan syndrome [RCV000538726]|not provided [RCV000082800] ChrX:17376055..17376056 [GRCh38]
ChrX:17394178..17394179 [GRCh37]
ChrX:Xp22.2
likely benign|uncertain significance
NM_001291867.2(NHS):c.3545C>T (p.Pro1182Leu) single nucleotide variant Nance-Horan syndrome [RCV000949202]|not specified [RCV000082801] ChrX:17727651 [GRCh38]
ChrX:17745771 [GRCh37]
ChrX:Xp22.13
benign
NM_001291867.2(NHS):c.3929G>T (p.Gly1310Val) single nucleotide variant Nance-Horan syndrome [RCV000638456]|not specified [RCV000194958] ChrX:17728035 [GRCh38]
ChrX:17746155 [GRCh37]
ChrX:Xp22.13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001291867.2(NHS):c.400del (p.Arg134fs) deletion not provided [RCV000082803] ChrX:17376155 [GRCh38]
ChrX:17394278 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001291867.2(NHS):c.4428_4430dup (p.Ser1480dup) duplication not provided [RCV000082804] ChrX:17731933..17731934 [GRCh38]
ChrX:17750053..17750054 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001291867.2(NHS):c.513C>T (p.Leu171=) single nucleotide variant not provided [RCV000723670]|not specified [RCV000082805] ChrX:17376270 [GRCh38]
ChrX:17394393 [GRCh37]
ChrX:Xp22.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001291867.2(NHS):c.566-10dup duplication not specified [RCV000082806] ChrX:17687730..17687731 [GRCh38]
ChrX:17705850..17705851 [GRCh37]
ChrX:Xp22.13
benign|likely benign|conflicting interpretations of pathogenicity
NM_001291867.2(NHS):c.765C>G (p.Pro255=) single nucleotide variant Nance-Horan syndrome [RCV001089186]|not provided [RCV000082807] ChrX:17692381 [GRCh38]
ChrX:17710501 [GRCh37]
ChrX:Xp22.13
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001291867.2(NHS):c.1016G>A (p.Trp339Ter) single nucleotide variant not provided [RCV000082808] ChrX:17721541 [GRCh38]
ChrX:17739661 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_198270.4(NHS):c.1048G>T (p.Val350Phe) single nucleotide variant not provided [RCV000087257] ChrX:17724301 [GRCh38]
ChrX:17742421 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001291867.2(NHS):c.2593G>A (p.Ala865Thr) single nucleotide variant History of neurodevelopmental disorder [RCV000718487]|Nance-Horan syndrome [RCV000541891]|not specified [RCV000192005] ChrX:17726699 [GRCh38]
ChrX:17744819 [GRCh37]
ChrX:Xp22.13
benign|likely benign|uncertain significance
NM_001291867.2(NHS):c.333_335GGC[5] (p.Ala117del) microsatellite not provided [RCV000117785] ChrX:17376089..17376091 [GRCh38]
ChrX:17394212..17394214 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001291867.2(NHS):c.333_335GGC[3] (p.Ala115_Ala117del) microsatellite not provided [RCV000117786] ChrX:17376089..17376097 [GRCh38]
ChrX:17394212..17394220 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001291867.2(NHS):c.2047G>A (p.Val683Met) single nucleotide variant not provided [RCV000117787] ChrX:17726153 [GRCh38]
ChrX:17744273 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001291867.2(NHS):c.2831A>T (p.His944Leu) single nucleotide variant History of neurodevelopmental disorder [RCV000716149]|Nance-Horan syndrome [RCV001085286]|not provided [RCV000826994]|not specified [RCV000117789] ChrX:17726937 [GRCh38]
ChrX:17745057 [GRCh37]
ChrX:Xp22.13
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001291867.2(NHS):c.3201T>C (p.Ser1067=) single nucleotide variant History of neurodevelopmental disorder [RCV000715645]|Nance-Horan syndrome [RCV000555315]|not specified [RCV000117790] ChrX:17727307 [GRCh38]
ChrX:17745427 [GRCh37]
ChrX:Xp22.13
benign|likely benign
NM_001291867.2(NHS):c.3204A>G (p.Leu1068=) single nucleotide variant History of neurodevelopmental disorder [RCV000715675]|Nance-Horan syndrome [RCV000531477]|not specified [RCV000117791] ChrX:17727310 [GRCh38]
ChrX:17745430 [GRCh37]
ChrX:Xp22.13
benign|likely benign
NM_001291867.2(NHS):c.4018T>C (p.Phe1340Leu) single nucleotide variant History of neurodevelopmental disorder [RCV000715327]|not provided [RCV000836772]|not specified [RCV000117792] ChrX:17728124 [GRCh38]
ChrX:17746244 [GRCh37]
ChrX:Xp22.13
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001291867.2(NHS):c.4832G>C (p.Ser1611Thr) single nucleotide variant Nance-Horan syndrome [RCV000874432]|not specified [RCV000117793] ChrX:17732340 [GRCh38]
ChrX:17750460 [GRCh37]
ChrX:Xp22.13
benign|likely benign
NM_001291867.2(NHS):c.766C>G (p.Leu256Val) single nucleotide variant not specified [RCV000117794] ChrX:17692382 [GRCh38]
ChrX:17710502 [GRCh37]
ChrX:Xp22.13
benign|uncertain significance
NM_001291867.2(NHS):c.1008G>C (p.Gln336His) single nucleotide variant Intellectual disability [RCV001251846] ChrX:17721533 [GRCh38]
ChrX:17739653 [GRCh37]
ChrX:Xp22.13
likely benign
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
Single allele single nucleotide variant not provided [RCV000171540] ChrX:17744091 [GRCh37]
ChrX:Xp22.13
likely pathogenic
Single allele single nucleotide variant not provided [RCV000171541] ChrX:17744617 [GRCh37]
ChrX:Xp22.13
likely pathogenic
NM_001291867.2(NHS):c.666C>T (p.Cys222=) single nucleotide variant not provided [RCV000877171]|not specified [RCV000176004] ChrX:17687842 [GRCh38]
ChrX:17705962 [GRCh37]
ChrX:Xp22.13
benign|likely benign
NM_001291867.2(NHS):c.3687C>A (p.Cys1229Ter) single nucleotide variant Congenital cataract [RCV000203345] ChrX:17727793 [GRCh38]
ChrX:17745913 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001291867.2(NHS):c.828G>A (p.Glu276=) single nucleotide variant Nance-Horan syndrome [RCV000533405]|not provided [RCV001311818]|not specified [RCV000177428] ChrX:17692444 [GRCh38]
ChrX:17710564 [GRCh37]
ChrX:Xp22.13
benign|likely benign
NM_001291867.2(NHS):c.1596G>A (p.Glu532=) single nucleotide variant not provided [RCV000878793]|not specified [RCV000179565] ChrX:17725702 [GRCh38]
ChrX:17743822 [GRCh37]
ChrX:Xp22.13
benign
NM_001291867.2(NHS):c.3374C>T (p.Ser1125Leu) single nucleotide variant History of neurodevelopmental disorder [RCV000721032]|Nance-Horan syndrome [RCV000876610]|not specified [RCV000179566] ChrX:17727480 [GRCh38]
ChrX:17745600 [GRCh37]
ChrX:Xp22.13
benign|conflicting interpretations of pathogenicity
NM_001291867.2(NHS):c.1175G>A (p.Arg392Gln) single nucleotide variant Inborn genetic diseases [RCV000190792]|not provided [RCV000594957] ChrX:17724365 [GRCh38]
ChrX:17742485 [GRCh37]
ChrX:Xp22.13
likely pathogenic|uncertain significance
NM_001291867.2(NHS):c.4582T>C (p.Ser1528Pro) single nucleotide variant Nance-Horan syndrome [RCV001331998] ChrX:17732090 [GRCh38]
ChrX:17750210 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001291867.2(NHS):c.565+7A>C single nucleotide variant not provided [RCV000173588] ChrX:17376329 [GRCh38]
ChrX:17394452 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001291867.2(NHS):c.147C>T (p.Val49=) single nucleotide variant not provided [RCV000173589] ChrX:17375904 [GRCh38]
ChrX:17394027 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001291867.2(NHS):c.401G>A (p.Arg134His) single nucleotide variant not provided [RCV000173590] ChrX:17376158 [GRCh38]
ChrX:17394281 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001291867.2(NHS):c.49C>T (p.Arg17Trp) single nucleotide variant not provided [RCV000173591] ChrX:17375806 [GRCh38]
ChrX:17393929 [GRCh37]
ChrX:Xp22.2
uncertain significance
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)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
NM_001291867.2(NHS):c.2204G>A (p.Arg735His) single nucleotide variant History of neurodevelopmental disorder [RCV000718571]|Malignant tumor of prostate [RCV000149387] ChrX:17726310 [GRCh38]
ChrX:17744430 [GRCh37]
ChrX:Xp22.13
likely benign|uncertain significance
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
NM_001291867.2(NHS):c.694C>T (p.Gln232Ter) single nucleotide variant Nance-Horan syndrome [RCV000211110] ChrX:17687870 [GRCh38]
ChrX:17705990 [GRCh37]
ChrX:Xp22.13
likely 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: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 Xp22.33-11.23(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: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-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 Xp22.33-11.21(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 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-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 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 Xp22.33-21.1(chrX:233335-37292980)x1 copy number loss See cases [RCV000135299] ChrX:233335..37292980 [GRCh38]
ChrX:150002..37152232 [GRCh37]
ChrX:90002..37037153 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.2-22.11(chrX:15173626-23952585)x2 copy number gain See cases [RCV000134875] ChrX:15173626..23952585 [GRCh38]
ChrX:15191748..23970702 [GRCh37]
ChrX:15101669..23880623 [NCBI36]
ChrX:Xp22.2-22.11
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 Xp22.33-21.1(chrX:10679-36186635)x1 copy number loss See cases [RCV000135551] ChrX:10679..36186635 [GRCh38]
ChrX:60679..36202463 [GRCh37]
ChrX:679..36114673 [NCBI36]
ChrX:Xp22.33-21.1
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-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-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 Xp22.33-22.12(chrX:10701-21866242)x3 copy number gain See cases [RCV000137383] ChrX:10701..21866242 [GRCh38]
ChrX:60701..21884360 [GRCh37]
ChrX:701..21794281 [NCBI36]
ChrX:Xp22.33-22.12
uncertain significance
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 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 Xp22.2-21.2(chrX:12254555-30410580)x1 copy number loss See cases [RCV000138069] ChrX:12254555..30410580 [GRCh38]
ChrX:12272674..30428697 [GRCh37]
ChrX:12182595..30338618 [NCBI36]
ChrX:Xp22.2-21.2
pathogenic|likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1 copy number loss See cases [RCV000138019] ChrX:10701..37723318 [GRCh38]
ChrX:60701..37318587 [GRCh37]
ChrX:701..37467510 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
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 Xp22.33-11.1(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-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 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 Xp22.33-11.4(chrX:3909315-38682287)x3 copy number gain See cases [RCV000141261] ChrX:3909315..38682287 [GRCh38]
ChrX:3827356..38541541 [GRCh37]
ChrX:3837356..38426485 [NCBI36]
ChrX:Xp22.33-11.4
uncertain significance
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 Xp22.2-22.13(chrX:15789793-18902428)x1 copy number loss See cases [RCV000141732] ChrX:15789793..18902428 [GRCh38]
ChrX:15807916..18920546 [GRCh37]
ChrX:15717837..18830467 [NCBI36]
ChrX:Xp22.2-22.13
pathogenic
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 Xp22.2-22.13(chrX:17310142-17506167)x3 copy number gain See cases [RCV000141446] ChrX:17310142..17506167 [GRCh38]
ChrX:17328265..17524290 [GRCh37]
ChrX:17238186..17434211 [NCBI36]
ChrX:Xp22.2-22.13
uncertain significance
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 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 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-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-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 Xp22.33-11.22(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: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 Xp22.33-11.21(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 Xp22.2-22.12(chrX:12856740-19380317)x2 copy number gain See cases [RCV000143774] ChrX:12856740..19380317 [GRCh38]
ChrX:12874859..19398435 [GRCh37]
ChrX:12784780..19308356 [NCBI36]
ChrX:Xp22.2-22.12
likely pathogenic
GRCh38/hg38 Xp22.2-22.13(chrX:16967798-17710902)x3 copy number gain See cases [RCV000143672] ChrX:16967798..17710902 [GRCh38]
ChrX:16985921..17729022 [GRCh37]
ChrX:16895842..17638943 [NCBI36]
ChrX:Xp22.2-22.13
likely benign|uncertain significance
GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1 copy number loss See cases [RCV000143496] ChrX:251879..35885004 [GRCh38]
ChrX:168546..35903121 [GRCh37]
ChrX:108546..35813042 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
NM_001291867.2(NHS):c.4666T>A (p.Ser1556Thr) single nucleotide variant Nance-Horan syndrome [RCV000552111]|not specified [RCV000153559] ChrX:17732174 [GRCh38]
ChrX:17750294 [GRCh37]
ChrX:Xp22.13
benign
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
NM_001291867.2(NHS):c.152C>T (p.Ala51Val) single nucleotide variant History of neurodevelopmental disorder [RCV000719244]|Nance-Horan syndrome [RCV000764867]|Nance-Horan syndrome [RCV001349017]|not provided [RCV000153563] ChrX:17375909 [GRCh38]
ChrX:17394032 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001291867.2(NHS):c.565+1G>T single nucleotide variant not provided [RCV000153564] ChrX:17376323 [GRCh38]
ChrX:17394446 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001291867.2(NHS):c.618G>A (p.Pro206=) single nucleotide variant not provided [RCV000153565] ChrX:17687794 [GRCh38]
ChrX:17705914 [GRCh37]
ChrX:Xp22.13
conflicting interpretations of pathogenicity|uncertain significance
NM_001291867.2(NHS):c.1108G>A (p.Gly370Arg) single nucleotide variant not provided [RCV000153566] ChrX:17721633 [GRCh38]
ChrX:17739753 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001291867.2(NHS):c.1143C>T (p.Cys381=) single nucleotide variant not provided [RCV000153567] ChrX:17724333 [GRCh38]
ChrX:17742453 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001291867.2(NHS):c.1155T>C (p.His385=) single nucleotide variant not provided [RCV000153568] ChrX:17724345 [GRCh38]
ChrX:17742465 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001291867.2(NHS):c.2633del (p.Gly878fs) deletion not provided [RCV000153569] ChrX:17726738 [GRCh38]
ChrX:17744858 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001291867.2(NHS):c.660A>C (p.Pro220=) single nucleotide variant not provided [RCV000176005] ChrX:17687836 [GRCh38]
ChrX:17705956 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001291867.2(NHS):c.4051G>A (p.Asp1351Asn) single nucleotide variant History of neurodevelopmental disorder [RCV000719416]|Nance-Horan syndrome [RCV000878906]|not specified [RCV000193140] ChrX:17728157 [GRCh38]
ChrX:17746277 [GRCh37]
ChrX:Xp22.13
benign|likely benign
NM_001291867.2(NHS):c.1163C>T (p.Ser388Leu) single nucleotide variant not specified [RCV000193889] ChrX:17724353 [GRCh38]
ChrX:17742473 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001291867.2(NHS):c.4813C>T (p.Arg1605Trp) single nucleotide variant not specified [RCV000194371] ChrX:17732321 [GRCh38]
ChrX:17750441 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001291867.2(NHS):c.2234C>T (p.Ala745Val) single nucleotide variant not provided [RCV000179567] ChrX:17726340 [GRCh38]
ChrX:17744460 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001291867.2(NHS):c.1327G>A (p.Gly443Arg) single nucleotide variant not provided [RCV000179568] ChrX:17725433 [GRCh38]
ChrX:17743553 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001291867.2(NHS):c.1603G>A (p.Val535Met) single nucleotide variant not provided [RCV000179569] ChrX:17725709 [GRCh38]
ChrX:17743829 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001291867.2(NHS):c.3408G>A (p.Thr1136=) single nucleotide variant not provided [RCV000179570] ChrX:17727514 [GRCh38]
ChrX:17745634 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001291867.2(NHS):c.3310C>T (p.His1104Tyr) single nucleotide variant History of neurodevelopmental disorder [RCV000719007]|Nance-Horan syndrome [RCV000871215]|not specified [RCV000179571] ChrX:17727416 [GRCh38]
ChrX:17745536 [GRCh37]
ChrX:Xp22.13
benign|uncertain significance
NM_001291867.2(NHS):c.4860G>C (p.Arg1620=) single nucleotide variant not provided [RCV000180385] ChrX:17732368 [GRCh38]
ChrX:17750488 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001291867.2(NHS):c.4783A>C (p.Thr1595Pro) single nucleotide variant Cataract 40 [RCV001331999]|not provided [RCV000180386] ChrX:17732291 [GRCh38]
ChrX:17750411 [GRCh37]
ChrX:Xp22.13
uncertain significance
GRCh37/hg19 Xp22.2-22.13(chrX:16997258-17701223)x2 copy number gain See cases [RCV000240031] ChrX:16997258..17701223 [GRCh37]
ChrX:Xp22.2-22.13
uncertain significance
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_001291867.2(NHS):c.1943_1945dup (p.Thr648dup) duplication not specified [RCV000192923] ChrX:17726047..17726048 [GRCh38]
ChrX:17744167..17744168 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001291867.2(NHS):c.310_345del (p.Pro104_Ala115del) deletion History of neurodevelopmental disorder [RCV000716366]|not provided [RCV000873171]|not specified [RCV000193261] ChrX:17376060..17376095 [GRCh38]
ChrX:17394183..17394218 [GRCh37]
ChrX:Xp22.2
benign|uncertain significance
NM_001291867.2(NHS):c.176_177delinsAA (p.Arg59Gln) indel Nance-Horan syndrome [RCV000764868]|not specified [RCV000195061] ChrX:17375933..17375934 [GRCh38]
ChrX:17394056..17394057 [GRCh37]
ChrX:Xp22.2
uncertain significance
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 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_001291867.2(NHS):c.2770del (p.Glu924fs) deletion Congenital cataract [RCV000203327] ChrX:17726875 [GRCh38]
ChrX:17744995 [GRCh37]
ChrX:Xp22.13
pathogenic
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-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:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [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:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [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 Xp22.33-21.1(chrX:71267-35809046)x1 copy number loss See cases [RCV000240335] ChrX:71267..35809046 [GRCh37]
ChrX:Xp22.33-21.1
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
GRCh37/hg19 Xp22.33-21.3(chrX:1378591-25940311)x2 copy number gain See cases [RCV000240441] ChrX:1378591..25940311 [GRCh37]
ChrX:Xp22.33-21.3
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:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001291867.2(NHS):c.3891C>T (p.Asp1297=) single nucleotide variant not provided [RCV000344033] ChrX:17727997 [GRCh38]
ChrX:17746117 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001291867.2(NHS):c.827A>G (p.Glu276Gly) single nucleotide variant not provided [RCV000384436] ChrX:17692443 [GRCh38]
ChrX:17710563 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001291867.2(NHS):c.3515C>T (p.Thr1172Met) single nucleotide variant not provided [RCV000401899] ChrX:17727621 [GRCh38]
ChrX:17745741 [GRCh37]
ChrX:Xp22.13
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_001291867.2(NHS):c.2617C>T (p.Pro873Ser) single nucleotide variant not provided [RCV000519933] ChrX:17726723 [GRCh38]
ChrX:17744843 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001291867.2(NHS):c.4646C>A (p.Pro1549His) single nucleotide variant not provided [RCV000488139] ChrX:17732154 [GRCh38]
ChrX:17750274 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001291867.2(NHS):c.1231C>T (p.Gln411Ter) single nucleotide variant Inborn genetic diseases [RCV000623307] ChrX:17724421 [GRCh38]
ChrX:17742541 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001291867.2(NHS):c.3447del (p.Glu1150fs) deletion not provided [RCV000598804] ChrX:17727553 [GRCh38]
ChrX:17745673 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001291867.2(NHS):c.1038del (p.Thr347fs) deletion not provided [RCV000627515] ChrX:17721563 [GRCh38]
ChrX:17739683 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001291867.2(NHS):c.408C>T (p.Leu136=) single nucleotide variant Nance-Horan syndrome [RCV000638457] ChrX:17376165 [GRCh38]
ChrX:17394288 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001291867.2(NHS):c.2277T>C (p.Tyr759=) single nucleotide variant Nance-Horan syndrome [RCV000526445] ChrX:17726383 [GRCh38]
ChrX:17744503 [GRCh37]
ChrX:Xp22.13
likely benign
NM_001291867.2(NHS):c.2921T>C (p.Val974Ala) single nucleotide variant not provided [RCV000733988] ChrX:17727027 [GRCh38]
ChrX:17745147 [GRCh37]
ChrX:Xp22.13
uncertain significance
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
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
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 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3
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:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [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-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
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-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 Xp22.33-11.22(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: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:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [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:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001291867.2(NHS):c.4259T>A (p.Leu1420His) single nucleotide variant not provided [RCV000417580] ChrX:17728685 [GRCh38]
ChrX:17746805 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001291867.2(NHS):c.949A>G (p.Met317Val) single nucleotide variant not provided [RCV000433131] ChrX:17721474 [GRCh38]
ChrX:17739594 [GRCh37]
ChrX:Xp22.13
uncertain significance
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 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
NM_001291867.2(NHS):c.565+5G>A single nucleotide variant not provided [RCV000483234] ChrX:17376327 [GRCh38]
ChrX:17394450 [GRCh37]
ChrX:Xp22.2
likely 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
GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1 copy number loss See cases [RCV000510590] ChrX:168546..37515849 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
NM_001291867.2(NHS):c.553C>T (p.Gln185Ter) single nucleotide variant not provided [RCV000498807] ChrX:17376310 [GRCh38]
ChrX:17394433 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001291867.2(NHS):c.3786G>A (p.Thr1262=) single nucleotide variant Nance-Horan syndrome [RCV000878244]|not specified [RCV000503582] ChrX:17727892 [GRCh38]
ChrX:17746012 [GRCh37]
ChrX:Xp22.13
likely benign
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 Xp22.2-22.13(chrX:16985921-17731101)x2 copy number gain See cases [RCV000510220] ChrX:16985921..17731101 [GRCh37]
ChrX:Xp22.2-22.13
uncertain significance
NM_001291867.2(NHS):c.3093G>A (p.Thr1031=) single nucleotide variant Nance-Horan syndrome [RCV000922901]|not specified [RCV000501799] ChrX:17727199 [GRCh38]
ChrX:17745319 [GRCh37]
ChrX:Xp22.13
likely benign
NM_001291867.2(NHS):c.4167T>C (p.Ser1389=) single nucleotide variant not specified [RCV000501873] ChrX:17728273 [GRCh38]
ChrX:17746393 [GRCh37]
ChrX:Xp22.13
likely benign
NM_001291867.2(NHS):c.4448C>G (p.Ser1483Cys) single nucleotide variant Nance-Horan syndrome [RCV000498961] ChrX:17731956 [GRCh38]
ChrX:17750076 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001291867.2(NHS):c.3262C>A (p.His1088Asn) single nucleotide variant not specified [RCV000502058] ChrX:17727368 [GRCh38]
ChrX:17745488 [GRCh37]
ChrX:Xp22.13
uncertain significance
GRCh37/hg19 Xp22.33-21.1(chrX:168546-35841052)x1 copy number loss See cases [RCV000510308] ChrX:168546..35841052 [GRCh37]
ChrX:Xp22.33-21.1
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_001291867.2(NHS):c.4082C>T (p.Ser1361Leu) single nucleotide variant not specified [RCV000500074] ChrX:17728188 [GRCh38]
ChrX:17746308 [GRCh37]
ChrX:Xp22.13
likely benign
NM_001291867.2(NHS):c.503A>G (p.Gln168Arg) single nucleotide variant not specified [RCV000500241] ChrX:17376260 [GRCh38]
ChrX:17394383 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001291867.2(NHS):c.739C>T (p.Arg247Cys) single nucleotide variant not provided [RCV000878302]|not specified [RCV000502766] ChrX:17692355 [GRCh38]
ChrX:17710475 [GRCh37]
ChrX:Xp22.13
likely benign
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
NM_001291867.2(NHS):c.249G>T (p.Pro83=) single nucleotide variant not specified [RCV000508275] ChrX:17376006 [GRCh38]
ChrX:17394129 [GRCh37]
ChrX:Xp22.2
likely benign
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 Xp22.33-21.2(chrX:168546-31085327)x1 copy number loss See cases [RCV000511350] ChrX:168546..31085327 [GRCh37]
ChrX:Xp22.33-21.2
pathogenic
GRCh37/hg19 Xp22.2-21.2(chrX:15290524-29747172)x2 copy number gain See cases [RCV000511443] ChrX:15290524..29747172 [GRCh37]
ChrX:Xp22.2-21.2
likely 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 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_001291867.2(NHS):c.277G>T (p.Glu93Ter) single nucleotide variant Nance-Horan syndrome [RCV000526164] ChrX:17376034 [GRCh38]
ChrX:17394157 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001291867.2(NHS):c.1998G>A (p.Glu666=) single nucleotide variant not provided [RCV000596024] ChrX:17726104 [GRCh38]
ChrX:17744224 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001291867.2(NHS):c.4156A>T (p.Lys1386Ter) single nucleotide variant Nance-Horan syndrome [RCV000539510] ChrX:17728262 [GRCh38]
ChrX:17746382 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001291867.2(NHS):c.3245del (p.Pro1082fs) deletion Inborn genetic diseases [RCV000623283] ChrX:17727350 [GRCh38]
ChrX:17745470 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_198270.4(NHS):c.566-52165C>T single nucleotide variant not provided [RCV000514409] ChrX:17635577 [GRCh38]
ChrX:17653697 [GRCh37]
ChrX:Xp22.13
likely benign
NM_001291867.2(NHS):c.1462_1465del (p.Asp488fs) deletion Nance-Horan syndrome [RCV000536969] ChrX:17725566..17725569 [GRCh38]
ChrX:17743686..17743689 [GRCh37]
ChrX:Xp22.13
pathogenic
NC_000023.11:g.(?_17692315)_(17692488_?)del deletion Nance-Horan syndrome [RCV000560767] ChrX:17692315..17692488 [GRCh38]
ChrX:17710435..17710608 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001291867.2(NHS):c.1760T>C (p.Met587Thr) single nucleotide variant History of neurodevelopmental disorder [RCV000718379]|Nance-Horan syndrome [RCV000525160] ChrX:17725866 [GRCh38]
ChrX:17743986 [GRCh37]
ChrX:Xp22.13
benign|likely benign
GRCh37/hg19 Xp22.13(chrX:17674125-17991059)x2 copy number gain See cases [RCV000512183] ChrX:17674125..17991059 [GRCh37]
ChrX:Xp22.13
uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3 copy number gain See cases [RCV000512204] ChrX:168546..24780527 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
NM_001291867.2(NHS):c.2909C>T (p.Thr970Met) single nucleotide variant Nance-Horan syndrome [RCV000638458] ChrX:17727015 [GRCh38]
ChrX:17745135 [GRCh37]
ChrX:Xp22.13
likely benign
NC_000023.10:g.(?_17393861)_(17653740_?)del deletion Nance-Horan syndrome [RCV000638459] ChrX:17393861..17653740 [GRCh37]
ChrX:Xp22.13
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
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
NM_001291867.2(NHS):c.4250T>G (p.Ile1417Ser) single nucleotide variant Inborn genetic diseases [RCV000624910] ChrX:17728676 [GRCh38]
ChrX:17746796 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001291867.2(NHS):c.397del (p.Ala133fs) deletion not provided [RCV000658317] ChrX:17376153 [GRCh38]
ChrX:17394276 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001291867.2(NHS):c.1253del (p.Ser418fs) deletion not provided [RCV000658316] ChrX:17725359 [GRCh38]
ChrX:17743479 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001291867.2(NHS):c.2093G>A (p.Arg698Gln) single nucleotide variant History of neurodevelopmental disorder [RCV000717083]|Nance-Horan syndrome [RCV000887487] ChrX:17726199 [GRCh38]
ChrX:17744319 [GRCh37]
ChrX:Xp22.13
benign
NM_001291867.2(NHS):c.1723A>G (p.Lys575Glu) single nucleotide variant History of neurodevelopmental disorder [RCV000719685] ChrX:17725829 [GRCh38]
ChrX:17743949 [GRCh37]
ChrX:Xp22.13
uncertain significance
GRCh37/hg19 Xp22.33-22.12(chrX:201704-20682168)x3 copy number gain not provided [RCV000684187] ChrX:201704..20682168 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
GRCh37/hg19 Xp22.33-22.13(chrX:168546-18601364)x1 copy number loss not provided [RCV000684182] ChrX:168546..18601364 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1 copy number loss not provided [RCV000684183] ChrX:168546..23785738 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.13(chrX:17557444-18142296)x3 copy number gain not provided [RCV000684283] ChrX:17557444..18142296 [GRCh37]
ChrX:Xp22.13
uncertain significance
GRCh37/hg19 Xp22.2-22.13(chrX:16969302-17731092)x3 copy number gain not provided [RCV000684281] ChrX:16969302..17731092 [GRCh37]
ChrX:Xp22.2-22.13
uncertain significance
GRCh37/hg19 Xp22.13(chrX:17134123-17653170)x2 copy number gain not provided [RCV000684282] ChrX:17134123..17653170 [GRCh37]
ChrX:Xp22.13
uncertain significance
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
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 Xp22.2-22.13(chrX:16709776-17445121)x2 copy number gain not provided [RCV000684280] ChrX:16709776..17445121 [GRCh37]
ChrX:Xp22.2-22.13
uncertain significance
NM_001291867.2(NHS):c.814C>T (p.Gln272Ter) single nucleotide variant Nance-Horan syndrome [RCV000699776] ChrX:17692430 [GRCh38]
ChrX:17710550 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001291867.2(NHS):c.2477G>A (p.Trp826Ter) single nucleotide variant Nance-Horan syndrome [RCV000691139] ChrX:17726583 [GRCh38]
ChrX:17744703 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001291867.2(NHS):c.4153G>A (p.Ala1385Thr) single nucleotide variant Nance-Horan syndrome [RCV000688774] ChrX:17728259 [GRCh38]
ChrX:17746379 [GRCh37]
ChrX:Xp22.13
uncertain significance
NC_000023.10:g.(?_17393861)_(17753592_?)del deletion Nance-Horan syndrome [RCV000708273] ChrX:17393861..17753592 [GRCh37]
ChrX:Xp22.13
pathogenic
NC_000023.10:g.(?_17393861)_(18671684_?)del deletion Early infantile epileptic encephalopathy 2 [RCV000708502] ChrX:17393861..18671684 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001291867.2(NHS):c.350C>T (p.Ala117Val) single nucleotide variant History of neurodevelopmental disorder [RCV000717365] ChrX:17376107 [GRCh38]
ChrX:17394230 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001291867.2(NHS):c.3157A>G (p.Lys1053Glu) single nucleotide variant History of neurodevelopmental disorder [RCV000717727] ChrX:17727263 [GRCh38]
ChrX:17745383 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001291867.2(NHS):c.4043G>A (p.Arg1348His) single nucleotide variant History of neurodevelopmental disorder [RCV000718204]|not provided [RCV000884776] ChrX:17728149 [GRCh38]
ChrX:17746269 [GRCh37]
ChrX:Xp22.13
benign|likely benign
NM_001291867.2(NHS):c.333_335GGC[7] (p.Ala117dup) microsatellite History of neurodevelopmental disorder [RCV000718335]|not provided [RCV000878429] ChrX:17376088..17376089 [GRCh38]
ChrX:17394211..17394212 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001291867.2(NHS):c.2905G>A (p.Ala969Thr) single nucleotide variant History of neurodevelopmental disorder [RCV000718429] ChrX:17727011 [GRCh38]
ChrX:17745131 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001291867.2(NHS):c.1469G>T (p.Gly490Val) single nucleotide variant History of neurodevelopmental disorder [RCV000718697] ChrX:17725575 [GRCh38]
ChrX:17743695 [GRCh37]
ChrX:Xp22.13
likely benign|uncertain significance
NM_001291867.2(NHS):c.3785C>T (p.Thr1262Met) single nucleotide variant History of neurodevelopmental disorder [RCV000718264]|not provided [RCV000964779] ChrX:17727891 [GRCh38]
ChrX:17746011 [GRCh37]
ChrX:Xp22.13
benign|likely benign
NM_001291867.2(NHS):c.3057A>G (p.Ala1019=) single nucleotide variant History of neurodevelopmental disorder [RCV000718544]|Nance-Horan syndrome [RCV000873065] ChrX:17727163 [GRCh38]
ChrX:17745283 [GRCh37]
ChrX:Xp22.13
benign|likely benign
NM_001291867.2(NHS):c.1174C>T (p.Arg392Trp) single nucleotide variant History of neurodevelopmental disorder [RCV000721038] ChrX:17724364 [GRCh38]
ChrX:17742484 [GRCh37]
ChrX:Xp22.13
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 Xp22.13(chrX:17637004-17638015)x0 copy number loss not provided [RCV000753396] ChrX:17637004..17638015 [GRCh37]
ChrX:Xp22.13
benign
GRCh37/hg19 Xp22.13(chrX:17637495-17637911)x1 copy number loss not provided [RCV000753397] ChrX:17637495..17637911 [GRCh37]
ChrX:Xp22.13
benign
GRCh37/hg19 Xp22.13(chrX:17637495-17638015)x0 copy number loss not provided [RCV000753398] ChrX:17637495..17638015 [GRCh37]
ChrX:Xp22.13
benign
GRCh37/hg19 Xp22.13(chrX:17637495-17644943)x0 copy number loss not provided [RCV000753399] ChrX:17637495..17644943 [GRCh37]
ChrX:Xp22.13
benign
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: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: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
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754363] ChrX:10000..22474705 [GRCh38]
ChrX:Xp22.33-22.11
likely 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
NM_001291867.2(NHS):c.2683G>A (p.Ala895Thr) single nucleotide variant not provided [RCV000938922] ChrX:17726789 [GRCh38]
ChrX:17744909 [GRCh37]
ChrX:Xp22.13
benign
NM_001291867.2(NHS):c.3141C>T (p.Pro1047=) single nucleotide variant not provided [RCV000918001] ChrX:17727247 [GRCh38]
ChrX:17745367 [GRCh37]
ChrX:Xp22.13
benign
NM_001291867.2(NHS):c.742C>T (p.Arg248Ter) single nucleotide variant Nance-Horan syndrome [RCV000816102]|not provided [RCV000760381] ChrX:17692358 [GRCh38]
ChrX:17710478 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001291867.2(NHS):c.719-1G>A single nucleotide variant Nance-Horan syndrome [RCV000990474] ChrX:17692334 [GRCh38]
ChrX:17710454 [GRCh37]
ChrX:Xp22.13
likely pathogenic
NM_001291867.2(NHS):c.502C>T (p.Gln168Ter) single nucleotide variant Nance-Horan syndrome [RCV001044162] ChrX:17376259 [GRCh38]
ChrX:17394382 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001291867.2(NHS):c.4151C>G (p.Ser1384Ter) single nucleotide variant not provided [RCV001090788] ChrX:17728257 [GRCh38]
ChrX:17746377 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001291867.2(NHS):c.4083G>A (p.Ser1361=) single nucleotide variant not provided [RCV000921247] ChrX:17728189 [GRCh38]
ChrX:17746309 [GRCh37]
ChrX:Xp22.13
likely benign
NM_001291867.2(NHS):c.4223-9T>C single nucleotide variant not provided [RCV000927409] ChrX:17728640 [GRCh38]
ChrX:17746760 [GRCh37]
ChrX:Xp22.13
likely benign
NM_001291867.2(NHS):c.177C>A (p.Arg59=) single nucleotide variant not provided [RCV000928014] ChrX:17375934 [GRCh38]
ChrX:17394057 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001291867.2(NHS):c.4168G>A (p.Asp1390Asn) single nucleotide variant not provided [RCV000878727] ChrX:17728274 [GRCh38]
ChrX:17746394 [GRCh37]
ChrX:Xp22.13
benign
NM_001291867.2(NHS):c.1656G>A (p.Pro552=) single nucleotide variant not provided [RCV000946235] ChrX:17725762 [GRCh38]
ChrX:17743882 [GRCh37]
ChrX:Xp22.13
likely benign
NM_001291867.2(NHS):c.688G>A (p.Ala230Thr) single nucleotide variant not provided [RCV000865126] ChrX:17687864 [GRCh38]
ChrX:17705984 [GRCh37]
ChrX:Xp22.13
benign
NM_001291867.2(NHS):c.4436G>A (p.Ser1479Asn) single nucleotide variant Nance-Horan syndrome [RCV000882247] ChrX:17731944 [GRCh38]
ChrX:17750064 [GRCh37]
ChrX:Xp22.13
benign
GRCh37/hg19 Xp22.2-22.12(chrX:16194993-20640014)x2 copy number gain not provided [RCV001007268] ChrX:16194993..20640014 [GRCh37]
ChrX:Xp22.2-22.12
pathogenic
NC_000023.10:g.(?_17393861)_(18671684_?)dup duplication Early infantile epileptic encephalopathy 2 [RCV001033299] ChrX:17393861..18671684 [GRCh37]
ChrX:Xp22.13
uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
NM_001291867.2(NHS):c.2887C>T (p.Leu963=) single nucleotide variant Nance-Horan syndrome [RCV000919507] ChrX:17726993 [GRCh38]
ChrX:17745113 [GRCh37]
ChrX:Xp22.13
likely benign
NM_001291867.2(NHS):c.204A>G (p.Pro68=) single nucleotide variant not provided [RCV000886742] ChrX:17375961 [GRCh38]
ChrX:17394084 [GRCh37]
ChrX:Xp22.2
benign
GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392) copy number gain not provided [RCV000767802] ChrX:801301..23768392 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
NM_001291867.2(NHS):c.1281T>C (p.Ile427=) single nucleotide variant not provided [RCV000982688] ChrX:17725387 [GRCh38]
ChrX:17743507 [GRCh37]
ChrX:Xp22.13
likely benign
NM_001291867.2(NHS):c.4679C>T (p.Thr1560Ile) single nucleotide variant not provided [RCV000999332] ChrX:17732187 [GRCh38]
ChrX:17750307 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001291867.2(NHS):c.2709C>T (p.Asn903=) single nucleotide variant not provided [RCV000893074] ChrX:17726815 [GRCh38]
ChrX:17744935 [GRCh37]
ChrX:Xp22.13
likely benign
NM_001291867.2(NHS):c.3658_3662del (p.Asn1220fs) deletion Nance-Horan syndrome [RCV000806284] ChrX:17727764..17727768 [GRCh38]
ChrX:17745884..17745888 [GRCh37]
ChrX:Xp22.13
pathogenic
GRCh37/hg19 Xp22.13(chrX:17557444-19260546)x2 copy number gain not provided [RCV000849199] ChrX:17557444..19260546 [GRCh37]
ChrX:Xp22.13
uncertain significance
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 Xp22.2-22.11(chrX:13962918-22148232)x2 copy number gain not provided [RCV000849766] ChrX:13962918..22148232 [GRCh37]
ChrX:Xp22.2-22.11
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 Xp22.2-22.11(chrX:13962918-22148232)x2 copy number gain not provided [RCV000849768] ChrX:13962918..22148232 [GRCh37]
ChrX:Xp22.2-22.11
pathogenic
GRCh37/hg19 Xp22.33-22.13(chrX:168546-17502124)x1 copy number loss not provided [RCV001007200] ChrX:168546..17502124 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:1240318-20986848)x2 copy number gain not provided [RCV001007235] ChrX:1240318..20986848 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:15330714-21915234)x2 copy number gain not provided [RCV000846517] ChrX:15330714..21915234 [GRCh37]
ChrX:Xp22.2-22.11
pathogenic
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1 copy number loss not provided [RCV000845671] ChrX:168546..38054739 [GRCh37]
ChrX:Xp22.33-11.4
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3 copy number gain not provided [RCV000849574] ChrX:2190434..23795839 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
NC_000023.11:g.(?_17687722)_(17692488_?)dup duplication Nance-Horan syndrome [RCV001032755] ChrX:17705842..17710608 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001291867.2(NHS):c.364C>T (p.Leu122=) single nucleotide variant not provided [RCV000936228] ChrX:17376121 [GRCh38]
ChrX:17394244 [GRCh37]
ChrX:Xp22.2
likely benign
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
NM_001291867.2(NHS):c.1228C>G (p.Gln410Glu) single nucleotide variant Cataract 40 [RCV001195970] ChrX:17724418 [GRCh38]
ChrX:17742538 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001291867.2(NHS):c.1501C>T (p.Arg501Cys) single nucleotide variant not provided [RCV000909882] ChrX:17725607 [GRCh38]
ChrX:17743727 [GRCh37]
ChrX:Xp22.13
benign
NM_001291867.2(NHS):c.4076A>G (p.Tyr1359Cys) single nucleotide variant not provided [RCV000914540] ChrX:17728182 [GRCh38]
ChrX:17746302 [GRCh37]
ChrX:Xp22.13
benign
NM_001291867.2(NHS):c.528C>A (p.Arg176=) single nucleotide variant not provided [RCV000892237] ChrX:17376285 [GRCh38]
ChrX:17394408 [GRCh37]
ChrX:Xp22.2
benign
NM_001291867.2(NHS):c.612C>T (p.Arg204=) single nucleotide variant not provided [RCV000931085] ChrX:17687788 [GRCh38]
ChrX:17705908 [GRCh37]
ChrX:Xp22.13
benign
NM_001291867.2(NHS):c.566-5T>C single nucleotide variant not provided [RCV000896899] ChrX:17687737 [GRCh38]
ChrX:17705857 [GRCh37]
ChrX:Xp22.13
benign
NM_001291867.2(NHS):c.1929G>A (p.Ser643=) single nucleotide variant not provided [RCV000923624] ChrX:17726035 [GRCh38]
ChrX:17744155 [GRCh37]
ChrX:Xp22.13
benign
NM_001291867.2(NHS):c.2732A>G (p.Glu911Gly) single nucleotide variant not provided [RCV000939408] ChrX:17726838 [GRCh38]
ChrX:17744958 [GRCh37]
ChrX:Xp22.13
benign
NM_001291867.2(NHS):c.3959T>C (p.Val1320Ala) single nucleotide variant Nance-Horan syndrome [RCV000954012] ChrX:17728065 [GRCh38]
ChrX:17746185 [GRCh37]
ChrX:Xp22.13
benign
NM_001291867.2(NHS):c.2125C>T (p.Leu709=) single nucleotide variant not provided [RCV000930037] ChrX:17726231 [GRCh38]
ChrX:17744351 [GRCh37]
ChrX:Xp22.13
likely benign
NM_001291867.2(NHS):c.1764T>G (p.Ala588=) single nucleotide variant not provided [RCV000932933] ChrX:17725870 [GRCh38]
ChrX:17743990 [GRCh37]
ChrX:Xp22.13
likely benign
NM_001291867.2(NHS):c.966G>A (p.Pro322=) single nucleotide variant Nance-Horan syndrome [RCV000908969] ChrX:17721491 [GRCh38]
ChrX:17739611 [GRCh37]
ChrX:Xp22.13
likely benign
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
NM_001291867.2(NHS):c.4297G>A (p.Val1433Met) single nucleotide variant not provided [RCV001090789] ChrX:17728723 [GRCh38]
ChrX:17746843 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001291867.2(NHS):c.1105dup (p.Thr369fs) duplication Nance-Horan syndrome [RCV001243972] ChrX:17721629..17721630 [GRCh38]
ChrX:17739749..17739750 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001291867.2(NHS):c.2327_2328del (p.His776fs) deletion Nance-Horan syndrome [RCV001071893] ChrX:17726432..17726433 [GRCh38]
ChrX:17744552..17744553 [GRCh37]
ChrX:Xp22.13
pathogenic
GRCh37/hg19 Xp22.2-22.13(chrX:15415636-18339030)x1 copy number loss not provided [RCV001007265] ChrX:15415636..18339030 [GRCh37]
ChrX:Xp22.2-22.13
uncertain significance
NM_001291867.2(NHS):c.3285del (p.His1095fs) deletion Nance-Horan syndrome [RCV001039059] ChrX:17727391 [GRCh38]
ChrX:17745511 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001291867.2(NHS):c.375C>A (p.Cys125Ter) single nucleotide variant Nance-Horan syndrome [RCV001055102] ChrX:17376132 [GRCh38]
ChrX:17394255 [GRCh37]
ChrX:Xp22.2
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1 copy number loss not provided [RCV001007223] ChrX:537158..22883547 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1 copy number loss not provided [RCV001007559] ChrX:168546..34753512 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
NM_001291867.2(NHS):c.4871C>T (p.Thr1624Met) single nucleotide variant Intellectual disability [RCV001251845] ChrX:17732379 [GRCh38]
ChrX:17750499 [GRCh37]
ChrX:Xp22.13
likely benign
NM_001291867.2(NHS):c.230C>G (p.Pro77Arg) single nucleotide variant Intellectual disability [RCV001251847] ChrX:17375987 [GRCh38]
ChrX:17394110 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001291867.2(NHS):c.2351A>G (p.Tyr784Cys) single nucleotide variant Intellectual disability [RCV001251848] ChrX:17726457 [GRCh38]
ChrX:17744577 [GRCh37]
ChrX:Xp22.13
likely benign
GRCh37/hg19 Xp22.13(chrX:17330582-17523604)x2 copy number gain not provided [RCV001259456] ChrX:17330582..17523604 [GRCh37]
ChrX:Xp22.13
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 Xp22.2-22.13(chrX:16985921-17729022)x2 copy number gain not provided [RCV001260012] ChrX:16985921..17729022 [GRCh37]
ChrX:Xp22.2-22.13
uncertain significance
NM_001291867.2(NHS):c.779C>T (p.Ala260Val) single nucleotide variant Nance-Horan syndrome [RCV001308263] ChrX:17692395 [GRCh38]
ChrX:17710515 [GRCh37]
ChrX:Xp22.13
uncertain significance
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
NM_001291867.2(NHS):c.546C>G (p.Asp182Glu) single nucleotide variant Cataract 40 [RCV001332000] ChrX:17376303 [GRCh38]
ChrX:17394426 [GRCh37]
ChrX:Xp22.2
uncertain significance
NC_000023.10:g.(?_17393881)_(20284750_?)dup duplication Early infantile epileptic encephalopathy 2 [RCV001345684] ChrX:17393881..20284750 [GRCh37]
ChrX:Xp22.13-22.12
uncertain significance
NM_001291867.2(NHS):c.822G>A (p.Arg274=) single nucleotide variant Nance-Horan syndrome [RCV001328827] ChrX:17692438 [GRCh38]
ChrX:17710558 [GRCh37]
ChrX:Xp22.13
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7820 AgrOrtholog
COSMIC NHS COSMIC
Ensembl Genes ENSG00000188158 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000369400 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000381170 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000478433 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000480113 UniProtKB/TrEMBL
  ENSP00000497676 UniProtKB/TrEMBL
  ENSP00000502262 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000380060 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000398097 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000615422 UniProtKB/TrEMBL
  ENST00000617601 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000648929 UniProtKB/TrEMBL
  ENST00000676302 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000188158 GTEx
HGNC ID HGNC:7820 ENTREZGENE
Human Proteome Map NHS Human Proteome Map
InterPro NHS_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4810 UniProtKB/Swiss-Prot
NCBI Gene 4810 ENTREZGENE
OMIM 300457 OMIM
  302200 OMIM
  302350 OMIM
Pfam NHS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31622 PharmGKB
UniProt A0A087WU78_HUMAN UniProtKB/TrEMBL
  A0A087WWC4_HUMAN UniProtKB/TrEMBL
  A0A3B3ITB2_HUMAN UniProtKB/TrEMBL
  NHS_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B7ZVX8 UniProtKB/Swiss-Prot
  E2DH69 UniProtKB/Swiss-Prot
  Q5J7Q0 UniProtKB/Swiss-Prot
  Q5J7Q1 UniProtKB/Swiss-Prot
  Q68DR5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-08-23 NHS  NHS actin remodeling regulator  CCT  cataract, congenital, total  Data Merged 737654 PROVISIONAL
2015-11-24 NHS  NHS actin remodeling regulator  NHS  Nance-Horan syndrome (congenital cataracts and dental anomalies)  Symbol and/or name change 5135510 APPROVED