NEXMIF (neurite extension and migration factor) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: NEXMIF (neurite extension and migration factor) Homo sapiens
Analyze
Symbol: NEXMIF
Name: neurite extension and migration factor
RGD ID: 1603497
HGNC Page HGNC
Description: Predicted to be involved in negative regulation of cell adhesion and negative regulation of neuron migration. Localizes to several cellular components, including midbody; mitotic spindle; and nucleoplasm. Implicated in non-syndromic X-linked intellectual disability 98.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: hypothetical protein LOC340533; KIAA2022; KIDLIA; MRX98; uncharacterized protein KIAA2022; XLMR protein related to neurite extension; XLMR-related protein, neurite extension; XPN
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 EnsemblX74,732,856 - 74,925,472 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX74,732,856 - 74,925,485 (-)EnsemblGRCh38hg38GRCh38
GRCh38X74,732,856 - 74,925,452 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X73,952,691 - 74,145,287 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X73,870,137 - 74,061,709 (-)NCBINCBI36hg18NCBI36
CeleraX74,236,153 - 74,428,748 (-)NCBI
Cytogenetic MapXq13.3NCBI
HuRefX67,587,986 - 67,778,886 (-)NCBIHuRef
CHM1_1X73,845,555 - 74,038,181 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Cellular Component
cytosol  (IDA)
midbody  (IDA)
mitotic spindle  (IDA)
nucleoplasm  (IDA)
nucleus  (IBA,ISO)

References

Additional References at PubMed
PMID:2756881   PMID:12477932   PMID:15466006   PMID:15772651   PMID:16344560   PMID:18029348   PMID:20811636   PMID:21873635   PMID:22531377   PMID:23615299   PMID:24071057   PMID:25394356  
PMID:25900396   PMID:27358180   PMID:27568816   PMID:27822498   PMID:29676528   PMID:29693785   PMID:29717186  


Genomics

Comparative Map Data
NEXMIF
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX74,732,856 - 74,925,472 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX74,732,856 - 74,925,485 (-)EnsemblGRCh38hg38GRCh38
GRCh38X74,732,856 - 74,925,452 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X73,952,691 - 74,145,287 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X73,870,137 - 74,061,709 (-)NCBINCBI36hg18NCBI36
CeleraX74,236,153 - 74,428,748 (-)NCBI
Cytogenetic MapXq13.3NCBI
HuRefX67,587,986 - 67,778,886 (-)NCBIHuRef
CHM1_1X73,845,555 - 74,038,181 (-)NCBICHM1_1
Nexmif
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X103,120,367 - 103,245,403 (-)NCBIGRCm39mm39
GRCm39 EnsemblX103,121,040 - 103,244,791 (-)Ensembl
GRCm38X104,076,761 - 104,201,783 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX104,077,434 - 104,201,185 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X101,272,774 - 101,396,456 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X100,285,909 - 100,403,904 (-)NCBImm8
CeleraX90,976,514 - 91,092,555 (-)NCBICelera
Cytogenetic MapXDNCBI
Nexmif
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X69,088,076 - 69,219,253 (-)NCBI
Rnor_6.0 EnsemblX74,945,082 - 74,968,405 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X74,943,440 - 75,053,559 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X75,748,099 - 75,852,569 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X92,073,589 - 92,081,623 (-)NCBIRGSC3.4rn4RGSC3.4
CeleraX70,444,945 - 70,469,768 (-)NCBICelera
Cytogenetic MapXq22NCBI
Nexmif
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955562780,189 - 968,083 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955562780,172 - 786,049 (-)NCBIChiLan1.0ChiLan1.0
NEXMIF
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X74,107,799 - 74,292,323 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX74,107,799 - 74,114,635 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X63,985,226 - 64,177,750 (-)NCBIMhudiblu_PPA_v0panPan3
NEXMIF
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X57,986,884 - 58,120,453 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX57,992,476 - 58,013,478 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX49,165,913 - 49,299,478 (-)NCBI
ROS_Cfam_1.0X59,225,238 - 59,358,844 (-)NCBI
UMICH_Zoey_3.1X56,945,135 - 57,078,689 (-)NCBI
UNSW_CanFamBas_1.0X58,524,242 - 58,664,141 (-)NCBI
UU_Cfam_GSD_1.0X58,131,656 - 58,265,221 (-)NCBI
Nexmif
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X43,790,406 - 43,907,835 (+)NCBI
SpeTri2.0NW_0049366831,041,739 - 1,157,382 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NEXMIF
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX59,967,635 - 60,120,021 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X59,967,712 - 60,013,938 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X68,178,778 - 68,329,023 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NEXMIF
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X64,332,957 - 64,530,082 (-)NCBI
ChlSab1.1 EnsemblX64,334,196 - 64,340,549 (-)Ensembl
Nexmif
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248365,907,848 - 6,075,518 (+)NCBI

Position Markers
DXS8092  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X74,122,966 - 74,123,240UniSTSGRCh37
Build 36X74,039,691 - 74,039,965RGDNCBI36
CeleraX74,406,431 - 74,406,705RGD
Cytogenetic MapXq13.3UniSTS
HuRefX67,757,027 - 67,757,299UniSTS
Marshfield Genetic MapX57.37RGD
Marshfield Genetic MapX57.37UniSTS
Genethon Genetic MapX96.0UniSTS
Whitehead-YAC Contig MapX UniSTS
DXS8037  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X74,123,542 - 74,123,793UniSTSGRCh37
Build 36X74,040,267 - 74,040,518RGDNCBI36
CeleraX74,407,007 - 74,407,256RGD
Cytogenetic MapXq13.3UniSTS
HuRefX67,757,601 - 67,757,850UniSTS
Marshfield Genetic MapX57.37RGD
Marshfield Genetic MapX57.37UniSTS
Genethon Genetic MapX96.4UniSTS
deCODE Assembly MapX86.45UniSTS
Whitehead-YAC Contig MapX UniSTS
AF020127  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X74,142,647 - 74,142,749UniSTSGRCh37
Build 36X74,059,372 - 74,059,474RGDNCBI36
CeleraX74,426,108 - 74,426,210RGD
Cytogenetic MapXq13.3UniSTS
HuRefX67,776,632 - 67,776,734UniSTS
A006V02  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X73,955,738 - 73,955,846UniSTSGRCh37
Build 36X73,872,463 - 73,872,571RGDNCBI36
CeleraX74,239,200 - 74,239,308RGD
Cytogenetic MapXq13.3UniSTS
HuRefX67,591,033 - 67,591,141UniSTS
GeneMap99-GB4 RH MapX248.92UniSTS
NCBI RH MapX518.4UniSTS
RH36660  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X73,953,468 - 73,953,541UniSTSGRCh37
Build 36X73,870,193 - 73,870,266RGDNCBI36
CeleraX74,236,930 - 74,237,003RGD
Cytogenetic MapXq13.3UniSTS
HuRefX67,588,763 - 67,588,836UniSTS
G35474  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371459,479,537 - 59,479,733UniSTSGRCh37
Build 361458,549,290 - 58,549,486RGDNCBI36
Celera1439,529,397 - 39,529,593RGD
Cytogenetic MapXq13.3UniSTS
HuRefX67,705,837 - 67,706,027UniSTS
HuRef1439,643,970 - 39,644,166UniSTS
DXS7722  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X73,973,588 - 73,973,673UniSTSGRCh37
Build 36X73,890,313 - 73,890,398RGDNCBI36
CeleraX74,257,050 - 74,257,135RGD
Cytogenetic MapXq13.3UniSTS
HuRefX67,608,846 - 67,608,931UniSTS
RH18195  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X73,954,411 - 73,954,567UniSTSGRCh37
Build 36X73,871,136 - 73,871,292RGDNCBI36
CeleraX74,237,873 - 74,238,029RGD
Cytogenetic MapXq13.3UniSTS
HuRefX67,589,706 - 67,589,862UniSTS
GeneMap99-GB4 RH MapX246.66UniSTS
AF020169  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X73,990,218 - 73,990,429UniSTSGRCh37
Build 36X73,906,943 - 73,907,154RGDNCBI36
CeleraX74,273,679 - 74,273,890RGD
Cytogenetic MapXq13.3UniSTS
HuRefX67,625,443 - 67,625,654UniSTS
A002N28  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X73,954,456 - 73,954,609UniSTSGRCh37
Build 36X73,871,181 - 73,871,334RGDNCBI36
CeleraX74,237,918 - 74,238,071RGD
Cytogenetic MapXq13.3UniSTS
HuRefX67,589,751 - 67,589,904UniSTS
GeneMap99-GB4 RH MapX245.87UniSTS
Whitehead-RH MapX203.8UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2204
Count of miRNA genes:976
Interacting mature miRNAs:1168
Transcripts:ENST00000055682, ENST00000424929
Prediction methods:Miranda, Pita, 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 1 9 5 30 1 2 27
Low 1847 1253 602 110 527 6 1817 843 2992 136 789 352 105 1 115 1432 1
Below cutoff 418 1563 878 286 1034 228 2423 1296 661 165 577 1105 62 1089 1350 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000055682   ⟹   ENSP00000055682
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX74,732,856 - 74,925,452 (-)Ensembl
RefSeq Acc Id: ENST00000424929   ⟹   ENSP00000407055
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX74,737,094 - 74,740,360 (-)Ensembl
RefSeq Acc Id: ENST00000616200   ⟹   ENSP00000480284
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX74,733,577 - 74,925,485 (-)Ensembl
RefSeq Acc Id: ENST00000642681   ⟹   ENSP00000495800
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX74,739,981 - 74,925,472 (-)Ensembl
RefSeq Acc Id: NM_001008537   ⟹   NP_001008537
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X74,732,856 - 74,925,452 (-)NCBI
GRCh37X73,952,691 - 74,145,287 (-)RGD
Build 36X73,870,137 - 74,061,709 (-)NCBI Archive
CeleraX74,236,153 - 74,428,748 (-)RGD
HuRefX67,587,986 - 67,778,886 (-)ENTREZGENE
CHM1_1X73,845,555 - 74,038,181 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001008537 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI52558 (Get FASTA)   NCBI Sequence Viewer  
  AAT67985 (Get FASTA)   NCBI Sequence Viewer  
  BAC23118 (Get FASTA)   NCBI Sequence Viewer  
  EAW98638 (Get FASTA)   NCBI Sequence Viewer  
  Q5QGS0 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001008537   ⟸   NM_001008537
- UniProtKB: Q5QGS0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000407055   ⟸   ENST00000424929
RefSeq Acc Id: ENSP00000480284   ⟸   ENST00000616200
RefSeq Acc Id: ENSP00000495800   ⟸   ENST00000642681
RefSeq Acc Id: ENSP00000055682   ⟸   ENST00000055682
Protein Domains
DUF4683

Promoters
RGD ID:6808979
Promoter ID:HG_KWN:67294
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:ENST00000373468,   ENST00000401962,   NM_001008537
Position:
Human AssemblyChrPosition (strand)Source
Build 36X74,061,531 - 74,062,031 (-)MPROMDB
RGD ID:13627478
Promoter ID:EPDNEW_H29014
Type:multiple initiation site
Name:NEXMIF_2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29016  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X74,781,974 - 74,782,034EPDNEW
RGD ID:13627484
Promoter ID:EPDNEW_H29016
Type:initiation region
Name:NEXMIF_1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29014  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X74,925,446 - 74,925,506EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001008537.3(NEXMIF):c.942T>G (p.Tyr314Ter) single nucleotide variant not provided [RCV000519936] ChrX:74743615 [GRCh38]
ChrX:73963450 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.1556A>T (p.Asp519Val) single nucleotide variant not provided [RCV000519921] ChrX:74743001 [GRCh38]
ChrX:73962836 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.3555G>T (p.Gly1185=) single nucleotide variant History of neurodevelopmental disorder [RCV000720214]|not provided [RCV000712139] ChrX:74741002 [GRCh38]
ChrX:73960837 [GRCh37]
ChrX:Xq13.3
benign|likely benign
NM_001008537.3(NEXMIF):c.2315G>A (p.Arg772His) single nucleotide variant not provided [RCV000547640] ChrX:74742242 [GRCh38]
ChrX:73962077 [GRCh37]
ChrX:Xq13.3
benign
NM_001008537.3(NEXMIF):c.2166_2168delinsAC (p.Phe722fs) indel Mental retardation, X-linked 98 [RCV000551271] ChrX:74742389..74742391 [GRCh38]
ChrX:73962224..73962226 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.1256A>G (p.Glu419Gly) single nucleotide variant Mental retardation, X-linked 98 [RCV000544885]|not provided [RCV001325962] ChrX:74743301 [GRCh38]
ChrX:73963136 [GRCh37]
ChrX:Xq13.3
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_001008537.3(NEXMIF):c.2373A>C (p.Thr791=) single nucleotide variant History of neurodevelopmental disorder [RCV000716524]|not provided [RCV000712136] ChrX:74742184 [GRCh38]
ChrX:73962019 [GRCh37]
ChrX:Xq13.3
benign|likely benign
NM_001008537.3(NEXMIF):c.2951A>G (p.Asn984Ser) single nucleotide variant History of neurodevelopmental disorder [RCV000718888]|Mental retardation, X-linked 98 [RCV000553990] ChrX:74741606 [GRCh38]
ChrX:73961441 [GRCh37]
ChrX:Xq13.3
likely benign|uncertain significance
NM_001008537.3(NEXMIF):c.3595_3611del (p.Lys1199fs) deletion Mental retardation, X-linked 98 [RCV000554398] ChrX:74740946..74740962 [GRCh38]
ChrX:73960781..73960797 [GRCh37]
ChrX:Xq13.3
pathogenic
NEXMIF, 70-KB DUP duplication Mental retardation, X-linked 98 [RCV000074405] ChrX:Xq13.2 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:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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: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: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 Xq12-21.1(chrX:67621041-76868590)x2 copy number gain See cases [RCV000052416] ChrX:67621041..76868590 [GRCh38]
ChrX:66840883..76009501 [GRCh37]
ChrX:66757608..76005403 [NCBI36]
ChrX:Xq12-21.1
pathogenic
GRCh38/hg38 Xq12-13.3(chrX:68382004-75243150)x2 copy number gain See cases [RCV000052417] ChrX:68382004..75243150 [GRCh38]
ChrX:67601846..74462985 [GRCh37]
ChrX:67518571..74379710 [NCBI36]
ChrX:Xq12-13.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-13.3(chrX:74383490-74837752)x2 copy number gain See cases [RCV000054210] ChrX:74383490..74837752 [GRCh38]
ChrX:73603325..74057587 [GRCh37]
ChrX:73520050..73974312 [NCBI36]
ChrX:Xq13.2-13.3
uncertain significance
NM_001008537.2(KIAA2022):c.3427G>A (p.Asp1143Asn) single nucleotide variant Malignant melanoma [RCV000073250] ChrX:74741130 [GRCh38]
ChrX:73960965 [GRCh37]
ChrX:73877690 [NCBI36]
ChrX:Xq13.3
not provided
NM_001008537.2(KIAA2022):c.1961C>T (p.Ser654Leu) single nucleotide variant Malignant melanoma [RCV000073251] ChrX:74742596 [GRCh38]
ChrX:73962431 [GRCh37]
ChrX:73879156 [NCBI36]
ChrX:Xq13.3
not provided
NM_001008537.3(NEXMIF):c.2672A>G (p.Asn891Ser) single nucleotide variant not provided [RCV000079361] ChrX:74741885 [GRCh38]
ChrX:73961720 [GRCh37]
ChrX:Xq13.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001008537.3(NEXMIF):c.3597dup (p.Ser1200fs) duplication Mental retardation, X-linked 98 [RCV000074404] ChrX:74740959..74740960 [GRCh38]
ChrX:73960794..73960795 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.183del (p.Arg62fs) deletion Mental retardation, X-linked 98 [RCV000074406] ChrX:74744374 [GRCh38]
ChrX:73964209 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.151C>A (p.Pro51Thr) single nucleotide variant History of neurodevelopmental disorder [RCV000715971]|not provided [RCV000441910]|not specified [RCV000117389] ChrX:74744406 [GRCh38]
ChrX:73964241 [GRCh37]
ChrX:Xq13.3
benign|likely benign
NM_001008537.3(NEXMIF):c.2598C>A (p.Ser866=) single nucleotide variant History of neurodevelopmental disorder [RCV000716123]|not provided [RCV000712137]|not specified [RCV000117390] ChrX:74741959 [GRCh38]
ChrX:73961794 [GRCh37]
ChrX:Xq13.3
benign|likely benign
NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter) single nucleotide variant Inborn genetic diseases [RCV000622439]|Mental retardation, X-linked 98 [RCV000170439]|not provided [RCV000518913] ChrX:74742675 [GRCh38]
ChrX:73962510 [GRCh37]
ChrX:Xq13.3
pathogenic|likely pathogenic
NM_001008537.3(NEXMIF):c.466G>A (p.Ala156Thr) single nucleotide variant Mental retardation, X-linked 98 [RCV001332649] ChrX:74744091 [GRCh38]
ChrX:73963926 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.742G>A (p.Glu248Lys) single nucleotide variant not provided [RCV001348237] ChrX:74743815 [GRCh38]
ChrX:73963650 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.2093A>C (p.Asp698Ala) single nucleotide variant not provided [RCV001349071] ChrX:74742464 [GRCh38]
ChrX:73962299 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.4397A>C (p.His1466Pro) single nucleotide variant Mental retardation, X-linked 98 [RCV001332648] ChrX:74740160 [GRCh38]
ChrX:73959995 [GRCh37]
ChrX:Xq13.3
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-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-21.1(chrX:62712219-78605009)x3 copy number gain See cases [RCV000134569] ChrX:62712219..78605009 [GRCh38]
ChrX:61931689..77860506 [GRCh37]
ChrX:61848414..77747162 [NCBI36]
ChrX:Xq11.1-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1 copy number loss See cases [RCV000135306] ChrX:53985575..92203108 [GRCh38]
ChrX:54012008..91458107 [GRCh37]
ChrX:54028733..91344763 [NCBI36]
ChrX:Xp11.22-q21.31
pathogenic
GRCh38/hg38 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 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 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-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-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 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xq12-21.1(chrX:66445907-78172208)x3 copy number gain See cases [RCV000142336] ChrX:66445907..78172208 [GRCh38]
ChrX:65665749..77427705 [GRCh37]
ChrX:65582474..77314361 [NCBI36]
ChrX:Xq12-21.1
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 Xq13.2-13.3(chrX:74326571-75201094)x2 copy number gain See cases [RCV000143004] ChrX:74326571..75201094 [GRCh38]
ChrX:73546406..74420929 [GRCh37]
ChrX:73463131..74337654 [NCBI36]
ChrX:Xq13.2-13.3
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.21-q13.3(chrX:56431359-76557419)x1 copy number loss See cases [RCV000143131] ChrX:56431359..76557419 [GRCh38]
ChrX:56457792..75777827 [GRCh37]
ChrX:56474517..75694231 [NCBI36]
ChrX:Xp11.21-q13.3
pathogenic
NM_001008537.3(NEXMIF):c.1582del (p.Arg528fs) deletion Mental retardation, X-linked 98 [RCV000153401]|not provided [RCV000723960] ChrX:74742975 [GRCh38]
ChrX:73962810 [GRCh37]
ChrX:Xq13.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_001008537.3(NEXMIF):c.3637G>A (p.Gly1213Ser) single nucleotide variant not specified [RCV000192419] ChrX:74740920 [GRCh38]
ChrX:73960755 [GRCh37]
ChrX:Xq13.3
likely benign|uncertain significance
NM_001008537.3(NEXMIF):c.3798C>T (p.Gly1266=) single nucleotide variant History of neurodevelopmental disorder [RCV000717113]|not provided [RCV000542882]|not specified [RCV000193621] ChrX:74740759 [GRCh38]
ChrX:73960594 [GRCh37]
ChrX:Xq13.3
benign|likely benign
NM_001008537.3(NEXMIF):c.4246C>T (p.Pro1416Ser) single nucleotide variant History of neurodevelopmental disorder [RCV000716104]|not provided [RCV000224826]|not specified [RCV000193660] ChrX:74740311 [GRCh38]
ChrX:73960146 [GRCh37]
ChrX:Xq13.3
benign|likely benign
NM_001008537.3(NEXMIF):c.3319G>A (p.Asp1107Asn) single nucleotide variant not provided [RCV001068695]|not specified [RCV000194187] ChrX:74741238 [GRCh38]
ChrX:73961073 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.4509T>C (p.Pro1503=) single nucleotide variant not provided [RCV000549293]|not specified [RCV000194878] ChrX:74739447 [GRCh38]
ChrX:73959282 [GRCh37]
ChrX:Xq13.3
benign|likely benign|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
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NM_001008537.3(NEXMIF):c.1998_2000AGA[1] (p.Glu667del) microsatellite not specified [RCV000194278] ChrX:74742554..74742556 [GRCh38]
ChrX:73962389..73962391 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.2560C>A (p.Pro854Thr) single nucleotide variant not specified [RCV000192483] ChrX:74741997 [GRCh38]
ChrX:73961832 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.4243A>G (p.Met1415Val) single nucleotide variant not provided [RCV000823412]|not specified [RCV000192709] ChrX:74740314 [GRCh38]
ChrX:73960149 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.2772_2773insTTTC (p.Glu925fs) insertion Mental retardation, X-linked 98 [RCV000193722] ChrX:74741784..74741785 [GRCh38]
ChrX:73961619..73961620 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.3972C>T (p.Ala1324=) single nucleotide variant not specified [RCV000194871] ChrX:74740585 [GRCh38]
ChrX:73960420 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.1983C>T (p.His661=) single nucleotide variant Mental retardation, X-linked 98 [RCV000545219] ChrX:74742574 [GRCh38]
ChrX:73962409 [GRCh37]
ChrX:Xq13.3
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_001008537.3(NEXMIF):c.3812T>C (p.Met1271Thr) single nucleotide variant History of neurodevelopmental disorder [RCV000719558]|not provided [RCV000559841] ChrX:74740745 [GRCh38]
ChrX:73960580 [GRCh37]
ChrX:Xq13.3
likely benign|uncertain significance
NM_001008537.3(NEXMIF):c.2200A>G (p.Lys734Glu) single nucleotide variant not provided [RCV000519694] ChrX:74742357 [GRCh38]
ChrX:73962192 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.4320C>T (p.Asn1440=) single nucleotide variant History of neurodevelopmental disorder [RCV000715896] ChrX:74740237 [GRCh38]
ChrX:73960072 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001008537.3(NEXMIF):c.2995_2996CT[2] (p.Ser1000fs) microsatellite Mental retardation, X-linked 98 [RCV000209914] ChrX:74741557..74741558 [GRCh38]
ChrX:73961392..73961393 [GRCh37]
ChrX:Xq13.3
pathogenic|uncertain significance
NM_001008537.3(NEXMIF):c.72A>G (p.Lys24=) single nucleotide variant not provided [RCV000557133] ChrX:74745579 [GRCh38]
ChrX:73965414 [GRCh37]
ChrX:Xq13.3
benign
NM_001008537.3(NEXMIF):c.937C>T (p.Arg313Ter) single nucleotide variant Mental retardation, X-linked 98 [RCV000813595]|not provided [RCV000229372] ChrX:74743620 [GRCh38]
ChrX:73963455 [GRCh37]
ChrX:Xq13.3
pathogenic|likely pathogenic|uncertain significance
NM_001008537.3(NEXMIF):c.422del (p.Gln141fs) deletion not provided [RCV000230782] ChrX:74744135 [GRCh38]
ChrX:73963970 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.625dup (p.Leu209fs) duplication not provided [RCV000231539] ChrX:74743931..74743932 [GRCh38]
ChrX:73963766..73963767 [GRCh37]
ChrX:Xq13.3
pathogenic
GRCh37/hg19 Xp11.21-q21.1(chrX:55240087-78225374)x1 copy number loss See cases [RCV000511311] ChrX:55240087..78225374 [GRCh37]
ChrX:Xp11.21-q21.1
pathogenic
NM_001008537.3(NEXMIF):c.652C>T (p.Arg218Ter) single nucleotide variant Continuous spike and waves during slow-wave sleep syndrome [RCV000585733]|not provided [RCV000233744] ChrX:74743905 [GRCh38]
ChrX:73963740 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.3053_3066del (p.Gly1018fs) deletion not provided [RCV000234271] ChrX:74741491..74741504 [GRCh38]
ChrX:73961326..73961339 [GRCh37]
ChrX:Xq13.3
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:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..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
NM_001008537.3(NEXMIF):c.2332_2333delinsTG (p.Glu778Trp) indel Inborn genetic diseases [RCV000623170] ChrX:74742224..74742225 [GRCh38]
ChrX:73962059..73962060 [GRCh37]
ChrX:Xq13.3
uncertain significance
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
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
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001008537.3(NEXMIF):c.133G>A (p.Ala45Thr) single nucleotide variant not provided [RCV000726308]|not specified [RCV000269889] ChrX:74744424 [GRCh38]
ChrX:73964259 [GRCh37]
ChrX:Xq13.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001008537.3(NEXMIF):c.1123del (p.Glu375fs) deletion Mental retardation, X-linked 98 [RCV001262963]|not provided [RCV000284520] ChrX:74743434 [GRCh38]
ChrX:73963269 [GRCh37]
ChrX:Xq13.3
pathogenic|likely pathogenic
NM_001008537.3(NEXMIF):c.1042C>T (p.Arg348Ter) single nucleotide variant Mental retardation, X-linked 98 [RCV000767534]|not provided [RCV000314302] ChrX:74743515 [GRCh38]
ChrX:73963350 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.1493C>A (p.Ser498Ter) single nucleotide variant not provided [RCV000320792] ChrX:74743064 [GRCh38]
ChrX:73962899 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.1441C>T (p.Arg481Ter) single nucleotide variant Inborn genetic diseases [RCV000624677]|Mental retardation, X-linked 98 [RCV000505390]|not provided [RCV000361637] ChrX:74743116 [GRCh38]
ChrX:73962951 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.2138_2171dup (p.Ser724delinsArgGluGluSerAlaGlnTer) duplication not provided [RCV000383552] ChrX:74742385..74742386 [GRCh38]
ChrX:73962220..73962221 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.2205_2212del (p.Ala736fs) deletion not provided [RCV000388949] ChrX:74742345..74742352 [GRCh38]
ChrX:73962180..73962187 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.640del (p.Ala214fs) deletion not provided [RCV000266505] ChrX:74743917 [GRCh38]
ChrX:73963752 [GRCh37]
ChrX:Xq13.3
pathogenic
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_001008537.3(NEXMIF):c.4021C>G (p.Leu1341Val) single nucleotide variant not provided [RCV000489076] ChrX:74740536 [GRCh38]
ChrX:73960371 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.1518_1522del (p.Arg507fs) deletion Inborn genetic diseases [RCV000622894] ChrX:74743035..74743039 [GRCh38]
ChrX:73962870..73962874 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.431G>A (p.Arg144Gln) single nucleotide variant not specified [RCV000522541] ChrX:74744126 [GRCh38]
ChrX:73963961 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.1014dup (p.Pro339fs) duplication not provided [RCV000598577] ChrX:74743542..74743543 [GRCh38]
ChrX:73963377..73963378 [GRCh37]
ChrX:Xq13.3
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_001008537.3(NEXMIF):c.991del (p.Glu331fs) deletion not provided [RCV000599595] ChrX:74743566 [GRCh38]
ChrX:73963401 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.4075dup (p.Ser1359fs) duplication Mental retardation, X-linked 98 [RCV000590923] ChrX:74740481..74740482 [GRCh38]
ChrX:73960316..73960317 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.4145A>G (p.Asn1382Ser) single nucleotide variant not provided [RCV000595299] ChrX:74740412 [GRCh38]
ChrX:73960247 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.1376_1377del (p.Asp458_Cys459insTer) deletion Mental retardation, X-linked 98 [RCV000414773] ChrX:74743180..74743181 [GRCh38]
ChrX:73963015..73963016 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.4248dup (p.Gly1417fs) duplication Mental retardation, X-linked 98 [RCV000415267] ChrX:74740308..74740309 [GRCh38]
ChrX:73960143..73960144 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.773G>A (p.Trp258Ter) single nucleotide variant not provided [RCV000734581] ChrX:74743784 [GRCh38]
ChrX:73963619 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.3709A>T (p.Met1237Leu) single nucleotide variant History of neurodevelopmental disorder [RCV000716507]|not provided [RCV000712140] ChrX:74740848 [GRCh38]
ChrX:73960683 [GRCh37]
ChrX:Xq13.3
benign|likely benign
NM_001008537.3(NEXMIF):c.1132A>G (p.Lys378Glu) single nucleotide variant not provided [RCV000532460] ChrX:74743425 [GRCh38]
ChrX:73963260 [GRCh37]
ChrX:Xq13.3
benign
NM_001008537.3(NEXMIF):c.1904G>C (p.Arg635Thr) single nucleotide variant Mental retardation, X-linked 98 [RCV001332644]|not provided [RCV000537298] ChrX:74742653 [GRCh38]
ChrX:73962488 [GRCh37]
ChrX:Xq13.3
uncertain significance
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
NM_001008537.3(NEXMIF):c.3470C>A (p.Ser1157Ter) single nucleotide variant Mental retardation, X-linked 98 [RCV000449555] ChrX:74741087 [GRCh38]
ChrX:73960922 [GRCh37]
ChrX:Xq13.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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 Xq13.1-21.1(chrX:71316395-84337550)x3 copy number gain See cases [RCV000447565] ChrX:71316395..84337550 [GRCh37]
ChrX:Xq13.1-21.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)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 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001008537.3(NEXMIF):c.3855G>A (p.Leu1285=) single nucleotide variant not specified [RCV000439674] ChrX:74740702 [GRCh38]
ChrX:73960537 [GRCh37]
ChrX:Xq13.3
likely benign
GRCh37/hg19 Xq13.2-13.3(chrX:73111197-74781209)x3 copy number gain See cases [RCV000445901] ChrX:73111197..74781209 [GRCh37]
ChrX:Xq13.2-13.3
pathogenic
NM_001008537.3(NEXMIF):c.1824A>G (p.Gln608=) single nucleotide variant not specified [RCV000426012] ChrX:74742733 [GRCh38]
ChrX:73962568 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001008537.3(NEXMIF):c.2042del (p.Gly681fs) deletion Mental retardation, X-linked 98 [RCV000505474] ChrX:74742515 [GRCh38]
ChrX:73962350 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.4228C>T (p.Pro1410Ser) single nucleotide variant not provided [RCV000433724] ChrX:74740329 [GRCh38]
ChrX:73960164 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.964C>T (p.Arg322Ter) single nucleotide variant Mental retardation, X-linked 98 [RCV000505427] ChrX:74743593 [GRCh38]
ChrX:73963428 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.438C>A (p.Cys146Ter) single nucleotide variant Mental retardation, X-linked 98 [RCV000505499] ChrX:74744119 [GRCh38]
ChrX:73963954 [GRCh37]
ChrX:Xq13.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-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 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_001008537.3(NEXMIF):c.766C>T (p.Gln256Ter) single nucleotide variant not provided [RCV000483441] ChrX:74743791 [GRCh38]
ChrX:73963626 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.3703G>A (p.Glu1235Lys) single nucleotide variant not provided [RCV000481198] ChrX:74740854 [GRCh38]
ChrX:73960689 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.206C>T (p.Ser69Phe) single nucleotide variant not provided [RCV000651342]|not specified [RCV000500928] ChrX:74744351 [GRCh38]
ChrX:73964186 [GRCh37]
ChrX:Xq13.3
likely benign|uncertain significance
NM_001008537.3(NEXMIF):c.2406T>A (p.Asn802Lys) single nucleotide variant not specified [RCV000501067] ChrX:74742151 [GRCh38]
ChrX:73961986 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.2098G>C (p.Val700Leu) single nucleotide variant not provided [RCV000651337]|not specified [RCV000501184] ChrX:74742459 [GRCh38]
ChrX:73962294 [GRCh37]
ChrX:Xq13.3
benign|likely benign
NM_001008537.3(NEXMIF):c.4338G>A (p.Lys1446=) single nucleotide variant not provided [RCV000537372]|not specified [RCV000503731] ChrX:74740219 [GRCh38]
ChrX:73960054 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001008537.3(NEXMIF):c.3402C>A (p.His1134Gln) single nucleotide variant not provided [RCV000966115]|not specified [RCV000504102] ChrX:74741155 [GRCh38]
ChrX:73960990 [GRCh37]
ChrX:Xq13.3
benign|uncertain significance
NM_001008537.3(NEXMIF):c.381G>A (p.Glu127=) single nucleotide variant not provided [RCV000955087]|not specified [RCV000499460] ChrX:74744176 [GRCh38]
ChrX:73964011 [GRCh37]
ChrX:Xq13.3
benign|uncertain significance
NM_001008537.3(NEXMIF):c.2130G>A (p.Lys710=) single nucleotide variant not provided [RCV000557641]|not specified [RCV000504243] ChrX:74742427 [GRCh38]
ChrX:73962262 [GRCh37]
ChrX:Xq13.3
likely benign|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001008537.3(NEXMIF):c.1854G>A (p.Glu618=) single nucleotide variant not specified [RCV000502027] ChrX:74742703 [GRCh38]
ChrX:73962538 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001008537.3(NEXMIF):c.2669C>T (p.Pro890Leu) single nucleotide variant not provided [RCV000950530]|not specified [RCV000502136] ChrX:74741888 [GRCh38]
ChrX:73961723 [GRCh37]
ChrX:Xq13.3
benign|likely benign
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_001008537.3(NEXMIF):c.3386T>G (p.Phe1129Cys) single nucleotide variant not specified [RCV000500688] ChrX:74741171 [GRCh38]
ChrX:73961006 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.1597del (p.Arg533fs) deletion Mental retardation, X-linked 98 [RCV000503169]|not provided [RCV001223122] ChrX:74742960 [GRCh38]
ChrX:73962795 [GRCh37]
ChrX:Xq13.3
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_001008537.3(NEXMIF):c.4205A>G (p.Asn1402Ser) single nucleotide variant History of neurodevelopmental disorder [RCV000720583]|not provided [RCV000544400] ChrX:74740352 [GRCh38]
ChrX:73960187 [GRCh37]
ChrX:Xq13.3
benign|likely benign|uncertain significance
NM_001008537.3(NEXMIF):c.2673del (p.Asn891fs) deletion Mental retardation, X-linked 98 [RCV000548018] ChrX:74741884 [GRCh38]
ChrX:73961719 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.3011_3014del (p.Ser1004fs) deletion Mental retardation, X-linked 98 [RCV000530077] ChrX:74741543..74741546 [GRCh38]
ChrX:73961378..73961381 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.2297G>A (p.Gly766Glu) single nucleotide variant Mental retardation, X-linked 98 [RCV000535179]|not provided [RCV001326644] ChrX:74742260 [GRCh38]
ChrX:73962095 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.855A>G (p.Leu285=) single nucleotide variant History of neurodevelopmental disorder [RCV000716708]|not provided [RCV000537712] ChrX:74743702 [GRCh38]
ChrX:73963537 [GRCh37]
ChrX:Xq13.3
benign
NM_001008537.3(NEXMIF):c.2801A>G (p.Asn934Ser) single nucleotide variant History of neurodevelopmental disorder [RCV000716438]|not provided [RCV000712138] ChrX:74741756 [GRCh38]
ChrX:73961591 [GRCh37]
ChrX:Xq13.3
benign
NM_001008537.3(NEXMIF):c.3202C>T (p.Leu1068Phe) single nucleotide variant Inborn genetic diseases [RCV000624360] ChrX:74741355 [GRCh38]
ChrX:73961190 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.2795C>G (p.Thr932Arg) single nucleotide variant not provided [RCV000528514] ChrX:74741762 [GRCh38]
ChrX:73961597 [GRCh37]
ChrX:Xq13.3
benign
NM_001008537.3(NEXMIF):c.2909A>T (p.Asn970Ile) single nucleotide variant Inborn genetic diseases [RCV000623266] ChrX:74741648 [GRCh38]
ChrX:73961483 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.3823A>G (p.Ser1275Gly) single nucleotide variant Mental retardation, X-linked 98 [RCV000531921]|not provided [RCV000859793] ChrX:74740734 [GRCh38]
ChrX:73960569 [GRCh37]
ChrX:Xq13.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001008537.3(NEXMIF):c.2154T>C (p.Asn718=) single nucleotide variant History of neurodevelopmental disorder [RCV000716510]|not provided [RCV000712135] ChrX:74742403 [GRCh38]
ChrX:73962238 [GRCh37]
ChrX:Xq13.3
benign
NM_001008537.3(NEXMIF):c.2895A>G (p.Gln965=) single nucleotide variant not provided [RCV001320913]|not specified [RCV000611807] ChrX:74741662 [GRCh38]
ChrX:73961497 [GRCh37]
ChrX:Xq13.3
likely benign|uncertain significance
NM_001008537.3(NEXMIF):c.2504A>C (p.His835Pro) single nucleotide variant not provided [RCV000651324] ChrX:74742053 [GRCh38]
ChrX:73961888 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.2147T>G (p.Val716Gly) single nucleotide variant Mental retardation, X-linked 98 [RCV000651325] ChrX:74742410 [GRCh38]
ChrX:73962245 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.2372C>T (p.Thr791Ile) single nucleotide variant Mental retardation, X-linked 98 [RCV000651326]|not provided [RCV001349751] ChrX:74742185 [GRCh38]
ChrX:73962020 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.1154G>A (p.Gly385Asp) single nucleotide variant Mental retardation, X-linked 98 [RCV000651327] ChrX:74743403 [GRCh38]
ChrX:73963238 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.3226del (p.Thr1076fs) deletion Mental retardation, X-linked 98 [RCV000651328] ChrX:74741331 [GRCh38]
ChrX:73961166 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.3230del (p.Pro1077fs) deletion Mental retardation, X-linked 98 [RCV000651329] ChrX:74741327 [GRCh38]
ChrX:73961162 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.3375G>A (p.Met1125Ile) single nucleotide variant Mental retardation, X-linked 98 [RCV000651330]|not provided [RCV001295729] ChrX:74741182 [GRCh38]
ChrX:73961017 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.1789A>G (p.Thr597Ala) single nucleotide variant Mental retardation, X-linked 98 [RCV000651331] ChrX:74742768 [GRCh38]
ChrX:73962603 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.563A>C (p.Asn188Thr) single nucleotide variant Mental retardation, X-linked 98 [RCV000651332]|not provided [RCV001321556] ChrX:74743994 [GRCh38]
ChrX:73963829 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.3782G>C (p.Cys1261Ser) single nucleotide variant not provided [RCV000651333] ChrX:74740775 [GRCh38]
ChrX:73960610 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.2241C>A (p.Ser747Arg) single nucleotide variant not provided [RCV000651323] ChrX:74742316 [GRCh38]
ChrX:73962151 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.3753A>G (p.Ile1251Met) single nucleotide variant History of neurodevelopmental disorder [RCV000718986]|Mental retardation, X-linked 98 [RCV000651334] ChrX:74740804 [GRCh38]
ChrX:73960639 [GRCh37]
ChrX:Xq13.3
benign|likely benign
NM_001008537.3(NEXMIF):c.1716G>T (p.Glu572Asp) single nucleotide variant not provided [RCV000651335] ChrX:74742841 [GRCh38]
ChrX:73962676 [GRCh37]
ChrX:Xq13.3
benign
NM_001008537.3(NEXMIF):c.3378G>A (p.Glu1126=) single nucleotide variant not provided [RCV000651336] ChrX:74741179 [GRCh38]
ChrX:73961014 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001008537.3(NEXMIF):c.2139G>A (p.Glu713=) single nucleotide variant History of neurodevelopmental disorder [RCV000719432]|Mental retardation, X-linked 98 [RCV000651339]|not provided [RCV001310735] ChrX:74742418 [GRCh38]
ChrX:73962253 [GRCh37]
ChrX:Xq13.3
benign|likely benign
NM_001008537.3(NEXMIF):c.4368C>A (p.Ala1456=) single nucleotide variant not provided [RCV000651340] ChrX:74740189 [GRCh38]
ChrX:73960024 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001008537.3(NEXMIF):c.3361C>T (p.Arg1121Trp) single nucleotide variant Mental retardation, X-linked 98 [RCV000651341] ChrX:74741196 [GRCh38]
ChrX:73961031 [GRCh37]
ChrX:Xq13.3
benign
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 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_001008537.3(NEXMIF):c.2886_2887CT[1] (p.Ser963fs) microsatellite Mental retardation, X-linked 98 [RCV000680021] ChrX:74741668..74741669 [GRCh38]
ChrX:73961503..73961504 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.1567dup (p.Trp523fs) duplication History of neurodevelopmental disorder [RCV000716958] ChrX:74742989..74742990 [GRCh38]
ChrX:73962824..73962825 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.4048G>A (p.Asp1350Asn) single nucleotide variant Mental retardation, X-linked 98 [RCV000768004]|not provided [RCV000974670] ChrX:74740509 [GRCh38]
ChrX:73960344 [GRCh37]
ChrX:Xq13.3
benign|uncertain significance
NM_001008537.3(NEXMIF):c.1196A>G (p.Asp399Gly) single nucleotide variant History of neurodevelopmental disorder [RCV000719702] ChrX:74743361 [GRCh38]
ChrX:73963196 [GRCh37]
ChrX:Xq13.3
likely benign
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 Xq13.2-13.3(chrX:73358441-74340786)x2 copy number gain not provided [RCV000684347] ChrX:73358441..74340786 [GRCh37]
ChrX:Xq13.2-13.3
uncertain significance
NM_001008537.3(NEXMIF):c.2605T>C (p.Ser869Pro) single nucleotide variant History of neurodevelopmental disorder [RCV000720286]|Mental retardation, X-linked 98 [RCV000678324] ChrX:74741952 [GRCh38]
ChrX:73961787 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.2251del (p.Glu751fs) deletion Mental retardation, X-linked 98 [RCV000702163] ChrX:74742306 [GRCh38]
ChrX:73962141 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.1121G>A (p.Gly374Glu) single nucleotide variant Mental retardation, X-linked 98 [RCV000690900]|not provided [RCV001315860] ChrX:74743436 [GRCh38]
ChrX:73963271 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.2917G>C (p.Glu973Gln) single nucleotide variant History of neurodevelopmental disorder [RCV000715980] ChrX:74741640 [GRCh38]
ChrX:73961475 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.2363T>C (p.Leu788Pro) single nucleotide variant not provided [RCV000702763] ChrX:74742194 [GRCh38]
ChrX:73962029 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.3574T>C (p.Ser1192Pro) single nucleotide variant Mental retardation, X-linked 98 [RCV000694735]|not provided [RCV001307364] ChrX:74740983 [GRCh38]
ChrX:73960818 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.4289A>C (p.Lys1430Thr) single nucleotide variant Mental retardation, X-linked 98 [RCV000694782]|not provided [RCV001322702] ChrX:74740268 [GRCh38]
ChrX:73960103 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.2986A>G (p.Met996Val) single nucleotide variant Mental retardation, X-linked 98 [RCV000701699]|not provided [RCV001307234] ChrX:74741571 [GRCh38]
ChrX:73961406 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.1370A>G (p.Lys457Arg) single nucleotide variant not provided [RCV000687641] ChrX:74743187 [GRCh38]
ChrX:73963022 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.1328G>A (p.Ser443Asn) single nucleotide variant not provided [RCV000690047] ChrX:74743229 [GRCh38]
ChrX:73963064 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.3334del (p.Ile1112fs) deletion Mental retardation, X-linked 98 [RCV000704726] ChrX:74741223 [GRCh38]
ChrX:73961058 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.16G>T (p.Asp6Tyr) single nucleotide variant not provided [RCV000702731] ChrX:74745635 [GRCh38]
ChrX:73965470 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.61A>G (p.Asn21Asp) single nucleotide variant Mental retardation, X-linked 98 [RCV000693867]|not provided [RCV001296875] ChrX:74745590 [GRCh38]
ChrX:73965425 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.2508T>G (p.His836Gln) single nucleotide variant Mental retardation, X-linked 98 [RCV000696031] ChrX:74742049 [GRCh38]
ChrX:73961884 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.911G>T (p.Gly304Val) single nucleotide variant Mental retardation, X-linked 98 [RCV000696074] ChrX:74743646 [GRCh38]
ChrX:73963481 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.1757G>C (p.Gly586Ala) single nucleotide variant History of neurodevelopmental disorder [RCV000720097]|not provided [RCV000688856] ChrX:74742800 [GRCh38]
ChrX:73962635 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.3800del (p.Pro1267fs) deletion Mental retardation, X-linked 98 [RCV000696215] ChrX:74740757 [GRCh38]
ChrX:73960592 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.1349A>T (p.Tyr450Phe) single nucleotide variant Mental retardation, X-linked 98 [RCV000696252] ChrX:74743208 [GRCh38]
ChrX:73963043 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.3653A>G (p.Gln1218Arg) single nucleotide variant Mental retardation, X-linked 98 [RCV000685911]|not provided [RCV001319991] ChrX:74740904 [GRCh38]
ChrX:73960739 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.3775G>A (p.Ala1259Thr) single nucleotide variant not provided [RCV000992247] ChrX:74740782 [GRCh38]
ChrX:73960617 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.2544C>T (p.Thr848=) single nucleotide variant History of neurodevelopmental disorder [RCV000717536] ChrX:74742013 [GRCh38]
ChrX:73961848 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001008537.3(NEXMIF):c.4446T>G (p.Phe1482Leu) single nucleotide variant History of neurodevelopmental disorder [RCV000717627] ChrX:74740111 [GRCh38]
ChrX:73959946 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001008537.3(NEXMIF):c.4406G>A (p.Arg1469Gln) single nucleotide variant History of neurodevelopmental disorder [RCV000718401] ChrX:74740151 [GRCh38]
ChrX:73959986 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.1741C>T (p.Leu581=) single nucleotide variant History of neurodevelopmental disorder [RCV000718802] ChrX:74742816 [GRCh38]
ChrX:73962651 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001008537.3(NEXMIF):c.505G>A (p.Asp169Asn) single nucleotide variant History of neurodevelopmental disorder [RCV000718119]|not provided [RCV001247548] ChrX:74744052 [GRCh38]
ChrX:73963887 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.1749C>G (p.Pro583=) single nucleotide variant History of neurodevelopmental disorder [RCV000718759] ChrX:74742808 [GRCh38]
ChrX:73962643 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001008537.3(NEXMIF):c.4337A>G (p.Lys1446Arg) single nucleotide variant History of neurodevelopmental disorder [RCV000716295]|not provided [RCV001230405] ChrX:74740220 [GRCh38]
ChrX:73960055 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.139A>G (p.Ile47Val) single nucleotide variant History of neurodevelopmental disorder [RCV000720377] ChrX:74744418 [GRCh38]
ChrX:73964253 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.1125G>T (p.Glu375Asp) single nucleotide variant History of neurodevelopmental disorder [RCV000720416] ChrX:74743432 [GRCh38]
ChrX:73963267 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.1234C>A (p.Pro412Thr) single nucleotide variant History of neurodevelopmental disorder [RCV000719077] ChrX:74743323 [GRCh38]
ChrX:73963158 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.443G>A (p.Gly148Asp) single nucleotide variant History of neurodevelopmental disorder [RCV000719264] ChrX:74744114 [GRCh38]
ChrX:73963949 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.3493C>T (p.Gln1165Ter) single nucleotide variant History of neurodevelopmental disorder [RCV000719460] ChrX:74741064 [GRCh38]
ChrX:73960899 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.4074G>T (p.Glu1358Asp) single nucleotide variant History of neurodevelopmental disorder [RCV000720572] ChrX:74740483 [GRCh38]
ChrX:73960318 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.3126G>C (p.Glu1042Asp) single nucleotide variant History of neurodevelopmental disorder [RCV000720717]|not provided [RCV001348827] ChrX:74741431 [GRCh38]
ChrX:73961266 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.653G>A (p.Arg218Gln) single nucleotide variant History of neurodevelopmental disorder [RCV000720776]|Mental retardation, X-linked 98 [RCV001291674] ChrX:74743904 [GRCh38]
ChrX:73963739 [GRCh37]
ChrX:Xq13.3
likely benign|uncertain significance
NM_001008537.3(NEXMIF):c.3294C>T (p.Phe1098=) single nucleotide variant History of neurodevelopmental disorder [RCV000720197] ChrX:74741263 [GRCh38]
ChrX:73961098 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001008537.3(NEXMIF):c.1786A>G (p.Asn596Asp) single nucleotide variant History of neurodevelopmental disorder [RCV000720200] ChrX:74742771 [GRCh38]
ChrX:73962606 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.2311T>C (p.Ser771Pro) single nucleotide variant History of neurodevelopmental disorder [RCV000720245] ChrX:74742246 [GRCh38]
ChrX:73962081 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.3439G>C (p.Val1147Leu) single nucleotide variant History of neurodevelopmental disorder [RCV000720431] ChrX:74741118 [GRCh38]
ChrX:73960953 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001008537.3(NEXMIF):c.2494T>C (p.Tyr832His) single nucleotide variant History of neurodevelopmental disorder [RCV000720822] ChrX:74742063 [GRCh38]
ChrX:73961898 [GRCh37]
ChrX:Xq13.3
uncertain significance
t(X;3)(q13.3;q11.2)dn translocation Mental retardation, X-linked 98 [RCV000727548] ChrX:74812980..74812991 [GRCh38]
Chr3:96297926..96297934 [GRCh38]
Chr3:3q11.2
ChrX:Xq13.3
pathogenic
GRCh37/hg19 Xq13.3(chrX:74016853-74178303)x0 copy number loss not provided [RCV000753607] ChrX:74016853..74178303 [GRCh37]
ChrX:Xq13.3
likely 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 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [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:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NM_001008537.3(NEXMIF):c.2432C>T (p.Pro811Leu) single nucleotide variant not provided [RCV000979165] ChrX:74742125 [GRCh38]
ChrX:73961960 [GRCh37]
ChrX:Xq13.3
benign
NM_001008537.3(NEXMIF):c.1300G>T (p.Glu434Ter) single nucleotide variant not provided [RCV000760912] ChrX:74743257 [GRCh38]
ChrX:73963092 [GRCh37]
ChrX:Xq13.3
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_001008537.3(NEXMIF):c.3353C>T (p.Thr1118Ile) single nucleotide variant not provided [RCV001053013] ChrX:74741204 [GRCh38]
ChrX:73961039 [GRCh37]
ChrX:Xq13.3
benign|uncertain significance
NM_001008537.3(NEXMIF):c.280dup (p.Ala94fs) duplication Mental retardation, X-linked 98 [RCV000760266] ChrX:74744276..74744277 [GRCh38]
ChrX:73964111..73964112 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.682G>T (p.Glu228Ter) single nucleotide variant not provided [RCV000760632] ChrX:74743875 [GRCh38]
ChrX:73963710 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.4382_4383del (p.Lys1461fs) deletion not provided [RCV001055747] ChrX:74740174..74740175 [GRCh38]
ChrX:73960009..73960010 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.3689del (p.Ala1230fs) deletion Mental retardation, X-linked 98 [RCV000990872] ChrX:74740868 [GRCh38]
ChrX:73960703 [GRCh37]
ChrX:Xq13.3
pathogenic
GRCh37/hg19 Xq13.3(chrX:73917544-73988312)x1 copy number loss not provided [RCV001007314] ChrX:73917544..73988312 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.2849A>T (p.Tyr950Phe) single nucleotide variant Mental retardation, X-linked 98 [RCV000944763] ChrX:74741708 [GRCh38]
ChrX:73961543 [GRCh37]
ChrX:Xq13.3
benign
NM_001008537.3(NEXMIF):c.652C>A (p.Arg218=) single nucleotide variant not provided [RCV000925707] ChrX:74743905 [GRCh38]
ChrX:73963740 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001008537.3(NEXMIF):c.2411C>G (p.Thr804Ser) single nucleotide variant not provided [RCV000937105] ChrX:74742146 [GRCh38]
ChrX:73961981 [GRCh37]
ChrX:Xq13.3
benign
NM_001008537.3(NEXMIF):c.342T>C (p.Leu114=) single nucleotide variant not provided [RCV000905271] ChrX:74744215 [GRCh38]
ChrX:73964050 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001008537.3(NEXMIF):c.1344C>T (p.Ile448=) single nucleotide variant not provided [RCV000937734] ChrX:74743213 [GRCh38]
ChrX:73963048 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001008537.3(NEXMIF):c.3701G>A (p.Gly1234Glu) single nucleotide variant not provided [RCV001071975] ChrX:74740856 [GRCh38]
ChrX:73960691 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.2495A>G (p.Tyr832Cys) single nucleotide variant not provided [RCV001037905] ChrX:74742062 [GRCh38]
ChrX:73961897 [GRCh37]
ChrX:Xq13.3
benign|uncertain significance
NM_001008537.3(NEXMIF):c.1768_1770AAG[3] (p.Lys593del) microsatellite not provided [RCV001044167] ChrX:74742778..74742780 [GRCh38]
ChrX:73962613..73962615 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.4492A>G (p.Thr1498Ala) single nucleotide variant not provided [RCV001034321] ChrX:74739464 [GRCh38]
ChrX:73959299 [GRCh37]
ChrX:Xq13.3
benign
NM_001008537.3(NEXMIF):c.1043G>A (p.Arg348Gln) single nucleotide variant not provided [RCV001034415] ChrX:74743514 [GRCh38]
ChrX:73963349 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001008537.3(NEXMIF):c.746del (p.Ala249fs) deletion not provided [RCV001044951] ChrX:74743811 [GRCh38]
ChrX:73963646 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.2795C>T (p.Thr932Ile) single nucleotide variant not provided [RCV001045244] ChrX:74741762 [GRCh38]
ChrX:73961597 [GRCh37]
ChrX:Xq13.3
uncertain significance
NC_000023.11:g.(?_74739385)_(74745670_?)dup duplication not provided [RCV001031802] ChrX:73959220..73965505 [GRCh37]
ChrX:Xq13.3
likely pathogenic
NM_001008537.3(NEXMIF):c.1261C>T (p.Leu421Phe) single nucleotide variant not provided [RCV001047677] ChrX:74743296 [GRCh38]
ChrX:73963131 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.804_807del (p.Ser268fs) deletion not provided [RCV001048025] ChrX:74743750..74743753 [GRCh38]
ChrX:73963585..73963588 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.1415C>G (p.Ser472Cys) single nucleotide variant not provided [RCV000995962] ChrX:74743142 [GRCh38]
ChrX:73962977 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.938G>A (p.Arg313Gln) single nucleotide variant Inborn genetic diseases [RCV001266065]|not provided [RCV000995963] ChrX:74743619 [GRCh38]
ChrX:73963454 [GRCh37]
ChrX:Xq13.3
uncertain significance
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
NM_001008537.3(NEXMIF):c.395C>T (p.Ser132Leu) single nucleotide variant Mental retardation, X-linked 98 [RCV000808318] ChrX:74744162 [GRCh38]
ChrX:73963997 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.3011G>C (p.Ser1004Thr) single nucleotide variant not provided [RCV000809168] ChrX:74741546 [GRCh38]
ChrX:73961381 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.2984C>A (p.Ser995Ter) single nucleotide variant not provided [RCV000782045] ChrX:74741573 [GRCh38]
ChrX:73961408 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.2505C>T (p.His835=) single nucleotide variant not provided [RCV000910247] ChrX:74742052 [GRCh38]
ChrX:73961887 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001008537.3(NEXMIF):c.3471A>C (p.Ser1157=) single nucleotide variant not provided [RCV000920564] ChrX:74741086 [GRCh38]
ChrX:73960921 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001008537.3(NEXMIF):c.1251A>G (p.Glu417=) single nucleotide variant not provided [RCV000926726] ChrX:74743306 [GRCh38]
ChrX:73963141 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001008537.3(NEXMIF):c.795T>C (p.Ile265=) single nucleotide variant not provided [RCV000929650] ChrX:74743762 [GRCh38]
ChrX:73963597 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001008537.3(NEXMIF):c.3001G>C (p.Val1001Leu) single nucleotide variant not provided [RCV000881091] ChrX:74741556 [GRCh38]
ChrX:73961391 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001008537.3(NEXMIF):c.347A>G (p.Asn116Ser) single nucleotide variant Mental retardation, X-linked 98 [RCV000908769] ChrX:74744210 [GRCh38]
ChrX:73964045 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001008537.3(NEXMIF):c.977C>G (p.Thr326Ser) single nucleotide variant not provided [RCV000917438] ChrX:74743580 [GRCh38]
ChrX:73963415 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001008537.3(NEXMIF):c.265C>T (p.His89Tyr) single nucleotide variant not provided [RCV000953960] ChrX:74744292 [GRCh38]
ChrX:73964127 [GRCh37]
ChrX:Xq13.3
benign
NM_001008537.3(NEXMIF):c.3820C>T (p.Pro1274Ser) single nucleotide variant not provided [RCV000899443] ChrX:74740737 [GRCh38]
ChrX:73960572 [GRCh37]
ChrX:Xq13.3
benign
NM_001008537.3(NEXMIF):c.4235G>A (p.Arg1412His) single nucleotide variant not provided [RCV000943870] ChrX:74740322 [GRCh38]
ChrX:73960157 [GRCh37]
ChrX:Xq13.3
benign
NM_001008537.3(NEXMIF):c.2220C>T (p.Ser740=) single nucleotide variant not provided [RCV000983100] ChrX:74742337 [GRCh38]
ChrX:73962172 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001008537.3(NEXMIF):c.1712G>A (p.Ser571Asn) single nucleotide variant not provided [RCV000929118] ChrX:74742845 [GRCh38]
ChrX:73962680 [GRCh37]
ChrX:Xq13.3
benign
NM_001008537.3(NEXMIF):c.3638G>A (p.Gly1213Asp) single nucleotide variant not provided [RCV000821066] ChrX:74740919 [GRCh38]
ChrX:73960754 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.2331T>C (p.His777=) single nucleotide variant not provided [RCV000937190] ChrX:74742226 [GRCh38]
ChrX:73962061 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001008537.3(NEXMIF):c.2527G>C (p.Gly843Arg) single nucleotide variant Mental retardation, X-linked 98 [RCV000821623]|not provided [RCV001348693] ChrX:74742030 [GRCh38]
ChrX:73961865 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.2062G>A (p.Gly688Arg) single nucleotide variant not provided [RCV000805247] ChrX:74742495 [GRCh38]
ChrX:73962330 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.3481G>T (p.Asp1161Tyr) single nucleotide variant Mental retardation, X-linked 98 [RCV000816583] ChrX:74741076 [GRCh38]
ChrX:73960911 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.2404A>G (p.Asn802Asp) single nucleotide variant Mental retardation, X-linked 98 [RCV000815090]|not provided [RCV001339127] ChrX:74742153 [GRCh38]
ChrX:73961988 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.3323G>A (p.Ser1108Asn) single nucleotide variant not provided [RCV000818398] ChrX:74741234 [GRCh38]
ChrX:73961069 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.2570C>T (p.Pro857Leu) single nucleotide variant Mental retardation, X-linked 98 [RCV000805622]|not provided [RCV001294290] ChrX:74741987 [GRCh38]
ChrX:73961822 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.306A>T (p.Thr102=) single nucleotide variant not provided [RCV000938001] ChrX:74744251 [GRCh38]
ChrX:73964086 [GRCh37]
ChrX:Xq13.3
benign
NM_001008537.3(NEXMIF):c.842_845TGTC[1] (p.Val283fs) microsatellite not provided [RCV000792214] ChrX:74743708..74743711 [GRCh38]
ChrX:73963543..73963546 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.361G>A (p.Ala121Thr) single nucleotide variant not provided [RCV000800571] ChrX:74744196 [GRCh38]
ChrX:73964031 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.1949G>A (p.Ser650Asn) single nucleotide variant not provided [RCV000813130] ChrX:74742608 [GRCh38]
ChrX:73962443 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.2357C>G (p.Thr786Ser) single nucleotide variant not provided [RCV000816051] ChrX:74742200 [GRCh38]
ChrX:73962035 [GRCh37]
ChrX:Xq13.3
benign|uncertain significance
GRCh37/hg19 Xq13.2-13.3(chrX:73591777-74179335)x2 copy number gain not provided [RCV000848431] ChrX:73591777..74179335 [GRCh37]
ChrX:Xq13.2-13.3
uncertain significance
NM_001008537.3(NEXMIF):c.1417T>C (p.Ser473Pro) single nucleotide variant not provided [RCV000800648] ChrX:74743140 [GRCh38]
ChrX:73962975 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.299C>G (p.Ser100Cys) single nucleotide variant not provided [RCV000839888] ChrX:74744258 [GRCh38]
ChrX:73964093 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001008537.3(NEXMIF):c.2486G>T (p.Ser829Ile) single nucleotide variant not provided [RCV000801829] ChrX:74742071 [GRCh38]
ChrX:73961906 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.3458dup (p.Asn1153fs) duplication not provided [RCV000809404] ChrX:74741098..74741099 [GRCh38]
ChrX:73960933..73960934 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.2723T>G (p.Ile908Arg) single nucleotide variant not provided [RCV000815201] ChrX:74741834 [GRCh38]
ChrX:73961669 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.2898dup (p.Cys967fs) duplication not provided [RCV001059551] ChrX:74741658..74741659 [GRCh38]
ChrX:73961493..73961494 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.298T>A (p.Ser100Thr) single nucleotide variant not provided [RCV000795467] ChrX:74744259 [GRCh38]
ChrX:73964094 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.1279G>T (p.Gly427Cys) single nucleotide variant not provided [RCV000815007] ChrX:74743278 [GRCh38]
ChrX:73963113 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.262G>A (p.Glu88Lys) single nucleotide variant Inborn genetic diseases [RCV001266347]|not provided [RCV000818741] ChrX:74744295 [GRCh38]
ChrX:73964130 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.4177A>G (p.Arg1393Gly) single nucleotide variant not provided [RCV000808771] ChrX:74740380 [GRCh38]
ChrX:73960215 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.4493C>T (p.Thr1498Ile) single nucleotide variant Mental retardation, X-linked 98 [RCV000803569] ChrX:74739463 [GRCh38]
ChrX:73959298 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.507_511del (p.Asp169fs) deletion Mental retardation, X-linked 98 [RCV000792491] ChrX:74744046..74744050 [GRCh38]
ChrX:73963881..73963885 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.4268G>A (p.Arg1423His) single nucleotide variant Mental retardation, X-linked 98 [RCV000845080]|not provided [RCV001337964] ChrX:74740289 [GRCh38]
ChrX:73960124 [GRCh37]
ChrX:Xq13.3
uncertain significance|not provided
NM_001008537.3(NEXMIF):c.1545C>T (p.Ser515=) single nucleotide variant not provided [RCV000918644] ChrX:74743012 [GRCh38]
ChrX:73962847 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001008537.3(NEXMIF):c.1728C>A (p.Asn576Lys) single nucleotide variant not provided [RCV000814067] ChrX:74742829 [GRCh38]
ChrX:73962664 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.4346G>A (p.Arg1449His) single nucleotide variant not provided [RCV000792949] ChrX:74740211 [GRCh38]
ChrX:73960046 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.4108T>C (p.Leu1370=) single nucleotide variant not provided [RCV001091605] ChrX:74740449 [GRCh38]
ChrX:73960284 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001008537.3(NEXMIF):c.1569G>A (p.Trp523Ter) single nucleotide variant not provided [RCV001091609] ChrX:74742988 [GRCh38]
ChrX:73962823 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.1942G>A (p.Ala648Thr) single nucleotide variant not provided [RCV001061305] ChrX:74742615 [GRCh38]
ChrX:73962450 [GRCh37]
ChrX:Xq13.3
uncertain significance
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xq13.2-13.3(chrX:73801032-74487058)x2 copy number gain not provided [RCV000847344] ChrX:73801032..74487058 [GRCh37]
ChrX:Xq13.2-13.3
uncertain significance
NM_001008537.3(NEXMIF):c.3050del (p.Asp1017fs) deletion not provided [RCV001171612] ChrX:74741507 [GRCh38]
ChrX:73961342 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.2091_2113del (p.Asp698fs) deletion Mental retardation, X-linked 98 [RCV001175550] ChrX:74742444..74742466 [GRCh38]
ChrX:73962279..73962301 [GRCh37]
ChrX:Xq13.3
likely pathogenic
NM_001008537.3(NEXMIF):c.3584dup (p.Asn1195fs) duplication not provided [RCV001008300] ChrX:74740972..74740973 [GRCh38]
ChrX:73960807..73960808 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.3682T>C (p.Tyr1228His) single nucleotide variant not provided [RCV001052231] ChrX:74740875 [GRCh38]
ChrX:73960710 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.3533A>G (p.Lys1178Arg) single nucleotide variant not provided [RCV001215720] ChrX:74741024 [GRCh38]
ChrX:73960859 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.3304G>A (p.Val1102Ile) single nucleotide variant not provided [RCV001240181] ChrX:74741253 [GRCh38]
ChrX:73961088 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.1002A>C (p.Gln334His) single nucleotide variant not provided [RCV001237611] ChrX:74743555 [GRCh38]
ChrX:73963390 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.959A>G (p.Asn320Ser) single nucleotide variant not provided [RCV001239059] ChrX:74743598 [GRCh38]
ChrX:73963433 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.2134C>A (p.Pro712Thr) single nucleotide variant not provided [RCV001205380] ChrX:74742423 [GRCh38]
ChrX:73962258 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.4183A>T (p.Ile1395Phe) single nucleotide variant not provided [RCV001220570] ChrX:74740374 [GRCh38]
ChrX:73960209 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.4235G>T (p.Arg1412Leu) single nucleotide variant not provided [RCV001220571] ChrX:74740322 [GRCh38]
ChrX:73960157 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.1183G>A (p.Val395Ile) single nucleotide variant not provided [RCV001217622] ChrX:74743374 [GRCh38]
ChrX:73963209 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.3425A>G (p.Asn1142Ser) single nucleotide variant Inborn genetic diseases [RCV001265775]|not provided [RCV001209789] ChrX:74741132 [GRCh38]
ChrX:73960967 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.2576A>G (p.Gln859Arg) single nucleotide variant not provided [RCV001243205] ChrX:74741981 [GRCh38]
ChrX:73961816 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.1123dup (p.Glu375fs) duplication not provided [RCV001238299] ChrX:74743433..74743434 [GRCh38]
ChrX:73963268..73963269 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.3432G>A (p.Glu1144=) single nucleotide variant not provided [RCV001210742] ChrX:74741125 [GRCh38]
ChrX:73960960 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.4142T>A (p.Ile1381Asn) single nucleotide variant not provided [RCV001203889] ChrX:74740415 [GRCh38]
ChrX:73960250 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.4399A>G (p.Met1467Val) single nucleotide variant not provided [RCV001221936] ChrX:74740158 [GRCh38]
ChrX:73959993 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.503G>C (p.Gly168Ala) single nucleotide variant not provided [RCV001207663] ChrX:74744054 [GRCh38]
ChrX:73963889 [GRCh37]
ChrX:Xq13.3
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001008537.3(NEXMIF):c.1050dup (p.Lys351Ter) duplication Inborn genetic diseases [RCV001266102]|not provided [RCV001229042] ChrX:74743506..74743507 [GRCh38]
ChrX:73963341..73963342 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.1123G>T (p.Glu375Ter) single nucleotide variant not provided [RCV001091611] ChrX:74743434 [GRCh38]
ChrX:73963269 [GRCh37]
ChrX:Xq13.3
likely pathogenic
NM_001008537.3(NEXMIF):c.4405C>T (p.Arg1469Ter) single nucleotide variant not provided [RCV001062075] ChrX:74740152 [GRCh38]
ChrX:73959987 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.2031dup (p.Ala678fs) duplication not provided [RCV001009123] ChrX:74742525..74742526 [GRCh38]
ChrX:73962360..73962361 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.3876C>A (p.Gly1292=) single nucleotide variant not provided [RCV000927235] ChrX:74740681 [GRCh38]
ChrX:73960516 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001008537.3(NEXMIF):c.2851G>A (p.Asp951Asn) single nucleotide variant not provided [RCV000881092] ChrX:74741706 [GRCh38]
ChrX:73961541 [GRCh37]
ChrX:Xq13.3
benign
NM_001008537.3(NEXMIF):c.2673C>T (p.Asn891=) single nucleotide variant not provided [RCV000909766] ChrX:74741884 [GRCh38]
ChrX:73961719 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001008537.3(NEXMIF):c.4449A>G (p.Glu1483=) single nucleotide variant not provided [RCV000933143] ChrX:74740108 [GRCh38]
ChrX:73959943 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001008537.3(NEXMIF):c.361G>T (p.Ala121Ser) single nucleotide variant not provided [RCV000930921] ChrX:74744196 [GRCh38]
ChrX:73964031 [GRCh37]
ChrX:Xq13.3
benign
NM_001008537.3(NEXMIF):c.3507C>T (p.Asn1169=) single nucleotide variant not provided [RCV000931661] ChrX:74741050 [GRCh38]
ChrX:73960885 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001008537.3(NEXMIF):c.3222G>A (p.Pro1074=) single nucleotide variant not provided [RCV000907942] ChrX:74741335 [GRCh38]
ChrX:73961170 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001008537.3(NEXMIF):c.154G>A (p.Val52Met) single nucleotide variant not provided [RCV000931850] ChrX:74744403 [GRCh38]
ChrX:73964238 [GRCh37]
ChrX:Xq13.3
benign
NM_001008537.3(NEXMIF):c.4325C>T (p.Pro1442Leu) single nucleotide variant not provided [RCV000930570] ChrX:74740232 [GRCh38]
ChrX:73960067 [GRCh37]
ChrX:Xq13.3
benign
NM_001008537.3(NEXMIF):c.637A>C (p.Arg213=) single nucleotide variant Mental retardation, X-linked 98 [RCV000952002] ChrX:74743920 [GRCh38]
ChrX:73963755 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001008537.3(NEXMIF):c.4065C>T (p.Tyr1355=) single nucleotide variant not provided [RCV000928438] ChrX:74740492 [GRCh38]
ChrX:73960327 [GRCh37]
ChrX:Xq13.3
benign
NM_001008537.3(NEXMIF):c.1161G>C (p.Glu387Asp) single nucleotide variant not provided [RCV000952545] ChrX:74743396 [GRCh38]
ChrX:73963231 [GRCh37]
ChrX:Xq13.3
benign
NM_001008537.3(NEXMIF):c.589G>T (p.Glu197Ter) single nucleotide variant not provided [RCV001201681] ChrX:74743968 [GRCh38]
ChrX:73963803 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.2400del (p.Ala801fs) deletion not provided [RCV001236024] ChrX:74742157 [GRCh38]
ChrX:73961992 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.3811A>G (p.Met1271Val) single nucleotide variant not provided [RCV001219182] ChrX:74740746 [GRCh38]
ChrX:73960581 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.1695G>C (p.Glu565Asp) single nucleotide variant not provided [RCV001245411] ChrX:74742862 [GRCh38]
ChrX:73962697 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.3227C>A (p.Thr1076Asn) single nucleotide variant not provided [RCV001220416] ChrX:74741330 [GRCh38]
ChrX:73961165 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.764A>G (p.Asn255Ser) single nucleotide variant not provided [RCV001224113] ChrX:74743793 [GRCh38]
ChrX:73963628 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.1418C>T (p.Ser473Phe) single nucleotide variant not provided [RCV001243695] ChrX:74743139 [GRCh38]
ChrX:73962974 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.136C>T (p.Pro46Ser) single nucleotide variant not provided [RCV001209551] ChrX:74744421 [GRCh38]
ChrX:73964256 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.2999C>T (p.Ser1000Phe) single nucleotide variant not provided [RCV001237933] ChrX:74741558 [GRCh38]
ChrX:73961393 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.617dup (p.Phe207fs) duplication not provided [RCV001064843] ChrX:74743939..74743940 [GRCh38]
ChrX:73963774..73963775 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.2929C>T (p.Pro977Ser) single nucleotide variant not provided [RCV001227613] ChrX:74741628 [GRCh38]
ChrX:73961463 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.4055A>G (p.Asn1352Ser) single nucleotide variant Mental retardation, X-linked 98 [RCV001225307]|not provided [RCV001322096] ChrX:74740502 [GRCh38]
ChrX:73960337 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.4294A>G (p.Ser1432Gly) single nucleotide variant not provided [RCV001241665] ChrX:74740263 [GRCh38]
ChrX:73960098 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.2369C>T (p.Thr790Met) single nucleotide variant not provided [RCV001228025] ChrX:74742188 [GRCh38]
ChrX:73962023 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.2554T>C (p.Phe852Leu) single nucleotide variant not provided [RCV001228027] ChrX:74742003 [GRCh38]
ChrX:73961838 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.4422G>A (p.Lys1474=) single nucleotide variant not provided [RCV000889249] ChrX:74740135 [GRCh38]
ChrX:73959970 [GRCh37]
ChrX:Xq13.3
benign
NM_001008537.3(NEXMIF):c.783C>T (p.Phe261=) single nucleotide variant not provided [RCV000935057] ChrX:74743774 [GRCh38]
ChrX:73963609 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001008537.3(NEXMIF):c.2545G>A (p.Glu849Lys) single nucleotide variant not provided [RCV000934787] ChrX:74742012 [GRCh38]
ChrX:73961847 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001008537.3(NEXMIF):c.336G>A (p.Trp112Ter) single nucleotide variant Mental retardation, X-linked 98 [RCV001263424] ChrX:74744221 [GRCh38]
ChrX:73964056 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.2458del (p.Asp820fs) deletion not provided [RCV001009283] ChrX:74742099 [GRCh38]
ChrX:73961934 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.1302G>C (p.Glu434Asp) single nucleotide variant not provided [RCV001068286] ChrX:74743255 [GRCh38]
ChrX:73963090 [GRCh37]
ChrX:Xq13.3
uncertain significance
GRCh37/hg19 Xq13.2-13.3(chrX:73485082-74088642)x3 copy number gain not provided [RCV001007312] ChrX:73485082..74088642 [GRCh37]
ChrX:Xq13.2-13.3
uncertain significance
NM_001008537.3(NEXMIF):c.3142G>T (p.Glu1048Ter) single nucleotide variant not provided [RCV001091606] ChrX:74741415 [GRCh38]
ChrX:73961250 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.1307C>A (p.Ser436Ter) single nucleotide variant not provided [RCV001091610] ChrX:74743250 [GRCh38]
ChrX:73963085 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.1119G>C (p.Trp373Cys) single nucleotide variant not provided [RCV001070047] ChrX:74743438 [GRCh38]
ChrX:73963273 [GRCh37]
ChrX:Xq13.3
benign|uncertain significance
NM_001008537.3(NEXMIF):c.2088C>T (p.Gly696=) single nucleotide variant not provided [RCV001055142] ChrX:74742469 [GRCh38]
ChrX:73962304 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.4234C>T (p.Arg1412Cys) single nucleotide variant not provided [RCV001063360] ChrX:74740323 [GRCh38]
ChrX:73960158 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.1456del (p.Val486fs) deletion Mental retardation, X-linked 98 [RCV001175153] ChrX:74743101 [GRCh38]
ChrX:73962936 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.875A>G (p.Asp292Gly) single nucleotide variant not provided [RCV001064028] ChrX:74743682 [GRCh38]
ChrX:73963517 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.1034G>T (p.Cys345Phe) single nucleotide variant not provided [RCV001066905] ChrX:74743523 [GRCh38]
ChrX:73963358 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.1409G>T (p.Gly470Val) single nucleotide variant not provided [RCV001068905] ChrX:74743148 [GRCh38]
ChrX:73962983 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.55C>G (p.Leu19Val) single nucleotide variant not provided [RCV001212209] ChrX:74745596 [GRCh38]
ChrX:73965431 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.3838T>C (p.Ser1280Pro) single nucleotide variant not provided [RCV001247170] ChrX:74740719 [GRCh38]
ChrX:73960554 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.502G>A (p.Gly168Ser) single nucleotide variant not provided [RCV001039256] ChrX:74744055 [GRCh38]
ChrX:73963890 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.2717G>C (p.Arg906Thr) single nucleotide variant not provided [RCV001047391] ChrX:74741840 [GRCh38]
ChrX:73961675 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.3325G>A (p.Val1109Met) single nucleotide variant not provided [RCV001047578] ChrX:74741232 [GRCh38]
ChrX:73961067 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.2293C>T (p.Pro765Ser) single nucleotide variant not provided [RCV001235748] ChrX:74742264 [GRCh38]
ChrX:73962099 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.181C>T (p.Pro61Ser) single nucleotide variant See cases [RCV001197756] ChrX:74744376 [GRCh38]
ChrX:73964211 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.413G>A (p.Cys138Tyr) single nucleotide variant not provided [RCV001217696] ChrX:74744144 [GRCh38]
ChrX:73963979 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.4460A>G (p.Asp1487Gly) single nucleotide variant not provided [RCV001068474] ChrX:74739496 [GRCh38]
ChrX:73959331 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.3460C>A (p.Pro1154Thr) single nucleotide variant not provided [RCV001048799] ChrX:74741097 [GRCh38]
ChrX:73960932 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.1595C>A (p.Thr532Asn) single nucleotide variant not provided [RCV001207639] ChrX:74742962 [GRCh38]
ChrX:73962797 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.3301G>A (p.Gly1101Ser) single nucleotide variant not provided [RCV001219904] ChrX:74741256 [GRCh38]
ChrX:73961091 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.3022T>C (p.Ser1008Pro) single nucleotide variant not provided [RCV001230101] ChrX:74741535 [GRCh38]
ChrX:73961370 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.2137G>T (p.Glu713Ter) single nucleotide variant not provided [RCV001091608] ChrX:74742420 [GRCh38]
ChrX:73962255 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.3524C>A (p.Ser1175Ter) single nucleotide variant not provided [RCV001202527] ChrX:74741033 [GRCh38]
ChrX:73960868 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.2835C>G (p.Cys945Trp) single nucleotide variant not provided [RCV001050970] ChrX:74741722 [GRCh38]
ChrX:73961557 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.1994A>C (p.His665Pro) single nucleotide variant not provided [RCV001051175] ChrX:74742563 [GRCh38]
ChrX:73962398 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.2373A>G (p.Thr791=) single nucleotide variant not provided [RCV001091607] ChrX:74742184 [GRCh38]
ChrX:73962019 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001008537.3(NEXMIF):c.4476C>G (p.Leu1492=) single nucleotide variant See cases [RCV001198803] ChrX:74739480 [GRCh38]
ChrX:73959315 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.1656G>T (p.Lys552Asn) single nucleotide variant not provided [RCV001071196] ChrX:74742901 [GRCh38]
ChrX:73962736 [GRCh37]
ChrX:Xq13.3
uncertain significance
GRCh37/hg19 Xq13.2-13.3(chrX:73775675-74193805)x2 copy number gain not provided [RCV001007313] ChrX:73775675..74193805 [GRCh37]
ChrX:Xq13.2-13.3
uncertain significance
NM_001008537.3(NEXMIF):c.635C>G (p.Ser212Ter) single nucleotide variant not provided [RCV001036027] ChrX:74743922 [GRCh38]
ChrX:73963757 [GRCh37]
ChrX:Xq13.3
pathogenic
NC_000023.11:g.(?_74739385)_(74745670_?)del deletion not provided [RCV001032288] ChrX:73959220..73965505 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.334T>A (p.Trp112Arg) single nucleotide variant not provided [RCV001045595] ChrX:74744223 [GRCh38]
ChrX:73964058 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.2006G>T (p.Gly669Val) single nucleotide variant not provided [RCV001035720] ChrX:74742551 [GRCh38]
ChrX:73962386 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.1118G>A (p.Trp373Ter) single nucleotide variant not provided [RCV001091612] ChrX:74743439 [GRCh38]
ChrX:73963274 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.694C>T (p.Gln232Ter) single nucleotide variant not provided [RCV001091613] ChrX:74743863 [GRCh38]
ChrX:73963698 [GRCh37]
ChrX:Xq13.3
likely pathogenic
NM_001008537.3(NEXMIF):c.419T>C (p.Met140Thr) single nucleotide variant not provided [RCV001205012] ChrX:74744138 [GRCh38]
ChrX:73963973 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.1394G>A (p.Arg465Gln) single nucleotide variant not provided [RCV001216326] ChrX:74743163 [GRCh38]
ChrX:73962998 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.2841G>T (p.Lys947Asn) single nucleotide variant not provided [RCV001233177] ChrX:74741716 [GRCh38]
ChrX:73961551 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.3428A>T (p.Asp1143Val) single nucleotide variant not provided [RCV001215187] ChrX:74741129 [GRCh38]
ChrX:73960964 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.4124A>C (p.Gln1375Pro) single nucleotide variant not provided [RCV001034240] ChrX:74740433 [GRCh38]
ChrX:73960268 [GRCh37]
ChrX:Xq13.3
likely benign
NM_001008537.3(NEXMIF):c.2324A>C (p.Glu775Ala) single nucleotide variant not provided [RCV001215492] ChrX:74742233 [GRCh38]
ChrX:73962068 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.3350G>A (p.Ser1117Asn) single nucleotide variant not provided [RCV001231688] ChrX:74741207 [GRCh38]
ChrX:73961042 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.3362G>A (p.Arg1121Gln) single nucleotide variant Intellectual disability [RCV001254971] ChrX:74741195 [GRCh38]
ChrX:73961030 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.2683del (p.Ser895fs) deletion Mental retardation, X-linked 98 [RCV001254087] ChrX:74741874 [GRCh38]
ChrX:73961709 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.791_792del (p.Phe264fs) deletion Mental retardation, X-linked 98 [RCV001251143] ChrX:74743765..74743766 [GRCh38]
ChrX:73963600..73963601 [GRCh37]
ChrX:Xq13.3
likely pathogenic
NM_001008537.3(NEXMIF):c.4152dup (p.Ser1385fs) duplication Inborn genetic diseases [RCV001266250] ChrX:74740404..74740405 [GRCh38]
ChrX:73960239..73960240 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.3630del (p.Lys1210fs) deletion Intellectual disability [RCV001257586] ChrX:74740927 [GRCh38]
ChrX:73960762 [GRCh37]
ChrX:Xq13.3
likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_001008537.3(NEXMIF):c.2812C>T (p.Leu938Phe) single nucleotide variant Intellectual disability [RCV001257587] ChrX:74741745 [GRCh38]
ChrX:73961580 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.907C>G (p.Leu303Val) single nucleotide variant Mental retardation, X-linked 98 [RCV001260586] ChrX:74743650 [GRCh38]
ChrX:73963485 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.1635_1636del (p.Asn546fs) deletion Intellectual disability [RCV001257589] ChrX:74742921..74742922 [GRCh38]
ChrX:73962756..73962757 [GRCh37]
ChrX:Xq13.3
likely pathogenic
NM_001008537.3(NEXMIF):c.2725del (p.Ala909fs) deletion Intellectual disability [RCV001257590] ChrX:74741832 [GRCh38]
ChrX:73961667 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.4380G>C (p.Glu1460Asp) single nucleotide variant not provided [RCV001349179] ChrX:74740177 [GRCh38]
ChrX:73960012 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.568_569dup (p.Asn192fs) duplication not provided [RCV001310736] ChrX:74743987..74743988 [GRCh38]
ChrX:73963822..73963823 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.4271C>T (p.Ser1424Phe) single nucleotide variant Mental retardation, X-linked 98 [RCV001332647] ChrX:74740286 [GRCh38]
ChrX:73960121 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.1961C>A (p.Ser654Ter) single nucleotide variant not provided [RCV001268476] ChrX:74742596 [GRCh38]
ChrX:73962431 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.1933G>T (p.Glu645Ter) single nucleotide variant not provided [RCV001268273] ChrX:74742624 [GRCh38]
ChrX:73962459 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.4052C>A (p.Pro1351His) single nucleotide variant Inborn genetic diseases [RCV001267588] ChrX:74740505 [GRCh38]
ChrX:73960340 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.1426C>T (p.Gln476Ter) single nucleotide variant Intellectual disability [RCV001257588] ChrX:74743131 [GRCh38]
ChrX:73962966 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.659C>A (p.Thr220Asn) single nucleotide variant not provided [RCV001350242] ChrX:74743898 [GRCh38]
ChrX:73963733 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.2648G>A (p.Ser883Asn) single nucleotide variant not provided [RCV001317268] ChrX:74741909 [GRCh38]
ChrX:73961744 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.3728G>A (p.Arg1243His) single nucleotide variant Mental retardation, X-linked 98 [RCV001335524] ChrX:74740829 [GRCh38]
ChrX:73960664 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.862G>T (p.Glu288Ter) single nucleotide variant Mental retardation, X-linked 98 [RCV001335526] ChrX:74743695 [GRCh38]
ChrX:73963530 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.1354G>T (p.Ala452Ser) single nucleotide variant not provided [RCV001299035] ChrX:74743203 [GRCh38]
ChrX:73963038 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.2528G>A (p.Gly843Asp) single nucleotide variant not provided [RCV001301736] ChrX:74742029 [GRCh38]
ChrX:73961864 [GRCh37]
ChrX:Xq13.3
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_001008537.3(NEXMIF):c.2376C>A (p.Cys792Ter) single nucleotide variant not provided [RCV001281608] ChrX:74742181 [GRCh38]
ChrX:73962016 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.3437C>A (p.Ser1146Tyr) single nucleotide variant Mental retardation, X-linked 98 [RCV001332646] ChrX:74741120 [GRCh38]
ChrX:73960955 [GRCh37]
ChrX:Xq13.3
likely pathogenic
NM_001008537.3(NEXMIF):c.4502T>A (p.Val1501Asp) single nucleotide variant not provided [RCV001296689] ChrX:74739454 [GRCh38]
ChrX:73959289 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.4478T>C (p.Leu1493Pro) single nucleotide variant not provided [RCV001315360] ChrX:74739478 [GRCh38]
ChrX:73959313 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.4274C>A (p.Thr1425Asn) single nucleotide variant not provided [RCV001302989] ChrX:74740283 [GRCh38]
ChrX:73960118 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.4189G>T (p.Gly1397Cys) single nucleotide variant not provided [RCV001340813] ChrX:74740368 [GRCh38]
ChrX:73960203 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.2942G>T (p.Gly981Val) single nucleotide variant not provided [RCV001309241] ChrX:74741615 [GRCh38]
ChrX:73961450 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.1752_1761del (p.Leu584fs) deletion Mental retardation, X-linked 98 [RCV001310080] ChrX:74742796..74742805 [GRCh38]
ChrX:73962631..73962640 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.685G>T (p.Asp229Tyr) single nucleotide variant not provided [RCV001352055] ChrX:74743872 [GRCh38]
ChrX:73963707 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.4189G>C (p.Gly1397Arg) single nucleotide variant Mental retardation, X-linked 98 [RCV001335525] ChrX:74740368 [GRCh38]
ChrX:73960203 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.1166G>A (p.Gly389Glu) single nucleotide variant not provided [RCV001348606] ChrX:74743391 [GRCh38]
ChrX:73963226 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.4298A>G (p.Asn1433Ser) single nucleotide variant not provided [RCV001321415] ChrX:74740259 [GRCh38]
ChrX:73960094 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.3427G>C (p.Asp1143His) single nucleotide variant not provided [RCV001326312] ChrX:74741130 [GRCh38]
ChrX:73960965 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.2210G>T (p.Gly737Val) single nucleotide variant not provided [RCV001299074] ChrX:74742347 [GRCh38]
ChrX:73962182 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.2649C>T (p.Ser883=) single nucleotide variant not provided [RCV001345744] ChrX:74741908 [GRCh38]
ChrX:73961743 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.2320T>C (p.Ser774Pro) single nucleotide variant not provided [RCV001312554] ChrX:74742237 [GRCh38]
ChrX:73962072 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.3895G>A (p.Gly1299Ser) single nucleotide variant not provided [RCV001303750] ChrX:74740662 [GRCh38]
ChrX:73960497 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.1300G>A (p.Glu434Lys) single nucleotide variant not provided [RCV001307558] ChrX:74743257 [GRCh38]
ChrX:73963092 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.4151G>C (p.Gly1384Ala) single nucleotide variant not provided [RCV001323137] ChrX:74740406 [GRCh38]
ChrX:73960241 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.2937G>T (p.Gln979His) single nucleotide variant not provided [RCV001346038] ChrX:74741620 [GRCh38]
ChrX:73961455 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.79+3A>G single nucleotide variant not provided [RCV001307042] ChrX:74745569 [GRCh38]
ChrX:73965404 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.2524G>A (p.Glu842Lys) single nucleotide variant not provided [RCV001322354] ChrX:74742033 [GRCh38]
ChrX:73961868 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.65G>A (p.Gly22Glu) single nucleotide variant not provided [RCV001347647] ChrX:74745586 [GRCh38]
ChrX:73965421 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.2786C>T (p.Thr929Ile) single nucleotide variant Mental retardation, X-linked 98 [RCV001335523] ChrX:74741771 [GRCh38]
ChrX:73961606 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.4294A>T (p.Ser1432Cys) single nucleotide variant not provided [RCV001295793] ChrX:74740263 [GRCh38]
ChrX:73960098 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.1159G>T (p.Glu387Ter) single nucleotide variant Mental retardation, X-linked 98 [RCV001335522] ChrX:74743398 [GRCh38]
ChrX:73963233 [GRCh37]
ChrX:Xq13.3
pathogenic
NM_001008537.3(NEXMIF):c.3347G>C (p.Cys1116Ser) single nucleotide variant not provided [RCV001305552] ChrX:74741210 [GRCh38]
ChrX:73961045 [GRCh37]
ChrX:Xq13.3
uncertain significance
NM_001008537.3(NEXMIF):c.2954T>C (p.Met985Thr) single nucleotide variant Mental retardation, X-linked 98 [RCV001332645] ChrX:74741603 [GRCh38]
ChrX:73961438 [GRCh37]
ChrX:Xq13.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29433 AgrOrtholog
COSMIC NEXMIF COSMIC
Ensembl Genes ENSG00000050030 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000055682 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000480284 UniProtKB/Swiss-Prot
  ENSP00000495800 UniProtKB/TrEMBL
Ensembl Transcript ENST00000055682 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000616200 UniProtKB/Swiss-Prot
  ENST00000642681 UniProtKB/TrEMBL
GTEx ENSG00000050030 GTEx
HGNC ID HGNC:29433 ENTREZGENE
Human Proteome Map NEXMIF Human Proteome Map
InterPro DUF4683 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nexmif UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:340533 UniProtKB/Swiss-Prot
NCBI Gene 340533 ENTREZGENE
OMIM 300524 OMIM
  300912 OMIM
PANTHER PTHR46946 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DUF4683 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162393214 PharmGKB
UniProt A0A2R8YEQ5_HUMAN UniProtKB/TrEMBL
  NEXMI_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A7YY87 UniProtKB/Swiss-Prot
  Q5JUX9 UniProtKB/Swiss-Prot
  Q8IVE9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-05-30 NEXMIF  neurite extension and migration factor  KIAA2022  KIAA2022  Symbol and/or name change 5135510 APPROVED