SLC9A6 (solute carrier family 9 member A6) - Rat Genome Database

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Gene: SLC9A6 (solute carrier family 9 member A6) Homo sapiens
Analyze
Symbol: SLC9A6
Name: solute carrier family 9 member A6
RGD ID: 1352693
HGNC Page HGNC
Description: Predicted to have potassium:proton antiporter activity and sodium:proton antiporter activity. Involved in axon extension; dendrite extension; and regulation of intracellular pH. Localizes to endoplasmic reticulum membrane; endosome membrane; and plasma membrane. Implicated in Christianson syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: KIAA0267; MRSA; Na(+)/H(+) exchanger 6; NHE6; sodium/hydrogen exchanger 6; solute carrier family 9 (sodium/hydrogen exchanger), isoform 6; solute carrier family 9 (sodium/hydrogen exchanger), member 6; solute carrier family 9 member 6; solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
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 EnsemblX135,973,841 - 136,047,269 (+)EnsemblGRCh38hg38GRCh38
GRCh38X135,974,596 - 136,047,269 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X135,067,594 - 135,129,428 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X134,895,252 - 134,957,094 (+)NCBINCBI36hg18NCBI36
Build 34X134,793,146 - 134,854,812NCBI
CeleraX135,428,360 - 135,490,286 (+)NCBI
Cytogenetic MapXq26.3NCBI
HuRefX124,341,164 - 124,403,216 (+)NCBIHuRef
CHM1_1X134,978,471 - 135,040,349 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal foot morphology  (IAGP)
Abnormality of the curvature of the vertebral column  (IAGP)
Abnormality of the nose  (IAGP)
Absent speech  (IAGP)
Adducted thumb  (IAGP)
Aplasia/Hypoplasia of the cerebellum  (IAGP)
Aplasia/Hypoplasia of the corpus callosum  (IAGP)
Arthrogryposis multiplex congenita  (IAGP)
Astigmatism  (IAGP)
Ataxia  (IAGP)
Autism  (IAGP)
Bowel incontinence  (IAGP)
Cachexia  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebral cortical atrophy  (IAGP)
Chorea  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Conspicuously happy disposition  (IAGP)
Death in early adulthood  (IAGP)
Decreased body weight  (IAGP)
Decreased muscle mass  (IAGP)
Deeply set eye  (IAGP)
Developmental regression  (IAGP)
Drooling  (IAGP)
Dysphagia  (IAGP)
Dystonia  (IAGP)
Esodeviation  (IAGP)
Esotropia  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties in infancy  (IAGP)
Flexion contracture  (IAGP)
Focal white matter lesions  (IAGP)
Gait ataxia  (IAGP)
Gastroesophageal reflux  (IAGP)
Gastrostomy tube feeding in infancy  (IAGP)
Generalized hypotonia  (IAGP)
Generalized-onset seizure  (IAGP)
Global developmental delay  (IAGP)
Happy demeanor  (IAGP)
Hyperkinetic movements  (IAGP)
Hypotonia  (IAGP)
Impaired use of nonverbal behaviors  (IAGP)
Inappropriate laughter  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, profound  (IAGP)
Intellectual disability, progressive  (IAGP)
Intellectual disability, severe  (IAGP)
Interictal epileptiform activity  (IAGP)
Joint hyperflexibility  (IAGP)
Long face  (IAGP)
Long nose  (IAGP)
Loss of ability to walk in first decade  (IAGP)
Macrotia  (IAGP)
Mandibular prognathia  (IAGP)
Microcephaly  (IAGP)
Mutism  (IAGP)
Narrow chest  (IAGP)
Narrow face  (IAGP)
Neuronal loss in central nervous system  (IAGP)
Nystagmus  (IAGP)
Open mouth  (IAGP)
Ophthalmoplegia  (IAGP)
Pectus excavatum  (IAGP)
Photosensitive tonic-clonic seizure  (IAGP)
Postnatal microcephaly  (IAGP)
Profound global developmental delay  (IAGP)
Recurrent respiratory infections  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Severe global developmental delay  (IAGP)
Short stature  (IAGP)
Skeletal muscle atrophy  (IAGP)
Sleep disturbance  (IAGP)
Slender finger  (IAGP)
Stereotypy  (IAGP)
Strabismus  (IAGP)
Thick eyebrow  (IAGP)
Truncal ataxia  (IAGP)
Urinary incontinence  (IAGP)
Ventriculomegaly  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:9039502   PMID:9507001   PMID:10528855   PMID:11279194   PMID:11641397   PMID:11707463   PMID:11940519   PMID:12477932   PMID:18057008   PMID:18342287   PMID:18976975   PMID:19322201  
PMID:19471312   PMID:19619532   PMID:20130086   PMID:20301317   PMID:20364249   PMID:20395263   PMID:21171650   PMID:21413028   PMID:21812100   PMID:21873635   PMID:21881004   PMID:22541666  
PMID:22931061   PMID:23508127   PMID:24035762   PMID:24630051   PMID:24874739   PMID:25044251   PMID:25561733   PMID:25818041   PMID:26186194   PMID:27142213   PMID:27256868   PMID:27590723  
PMID:28514442   PMID:28635961   PMID:29334451   PMID:30296617   PMID:32277048   PMID:32296183  


Genomics

Comparative Map Data
SLC9A6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX135,973,841 - 136,047,269 (+)EnsemblGRCh38hg38GRCh38
GRCh38X135,974,596 - 136,047,269 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X135,067,594 - 135,129,428 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X134,895,252 - 134,957,094 (+)NCBINCBI36hg18NCBI36
Build 34X134,793,146 - 134,854,812NCBI
CeleraX135,428,360 - 135,490,286 (+)NCBI
Cytogenetic MapXq26.3NCBI
HuRefX124,341,164 - 124,403,216 (+)NCBIHuRef
CHM1_1X134,978,471 - 135,040,349 (+)NCBICHM1_1
Slc9a6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X55,654,921 - 55,709,590 (+)NCBIGRCm39mm39
GRCm39 EnsemblX55,655,117 - 55,709,590 (+)Ensembl
GRCm38X56,609,556 - 56,664,230 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX56,609,757 - 56,664,230 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X53,863,012 - 53,917,407 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X52,956,638 - 53,008,677 (+)NCBImm8
CeleraX43,091,843 - 43,146,238 (+)NCBICelera
Cytogenetic MapXA5- A6NCBI
Slc9a6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X134,430,588 - 134,486,747 (+)NCBI
Rnor_6.0 EnsemblX158,978,755 - 159,045,044 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X158,979,081 - 159,045,019 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X153,620,082 - 153,675,717 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X141,146,237 - 141,201,234 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX142,471,399 - 142,536,119 (+)NCBICelera
Cytogenetic MapXq37NCBI
Slc9a6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554899,019,425 - 9,078,705 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554899,020,719 - 9,078,375 (-)NCBIChiLan1.0ChiLan1.0
SLC9A6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X135,378,091 - 135,439,781 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX135,378,094 - 135,439,781 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X125,099,378 - 125,171,161 (+)NCBIMhudiblu_PPA_v0panPan3
SLC9A6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X106,408,789 - 106,465,504 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX106,398,850 - 106,463,252 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX92,228,868 - 92,285,695 (+)NCBI
ROS_Cfam_1.0X108,385,561 - 108,442,397 (+)NCBI
UMICH_Zoey_3.1X105,522,975 - 105,586,115 (+)NCBI
UNSW_CanFamBas_1.0X107,706,620 - 107,763,439 (+)NCBI
UU_Cfam_GSD_1.0X107,355,362 - 107,412,198 (+)NCBI
Slc9a6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X104,399,038 - 104,455,882 (+)NCBI
SpeTri2.0NW_00493651311,158,609 - 11,215,477 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC9A6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX111,176,495 - 111,233,099 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X111,176,461 - 111,233,108 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X127,098,575 - 127,154,902 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SLC9A6
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X110,997,985 - 111,060,164 (+)NCBI
ChlSab1.1 EnsemblX110,998,281 - 111,060,252 (+)Ensembl
Slc9a6
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462480811,107,125 - 11,157,913 (-)NCBI

Position Markers
DXS548  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X146,803,448 - 146,803,644UniSTSGRCh37
Build 36X146,611,140 - 146,611,336RGDNCBI36
CeleraX147,155,519 - 147,155,712RGD
Cytogenetic MapXq26.3UniSTS
HuRefX135,763,257 - 135,763,450UniSTS
DXS6845  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,091,627 - 135,091,801UniSTSGRCh37
Build 36X134,919,293 - 134,919,467RGDNCBI36
CeleraX135,452,405 - 135,452,579RGD
Cytogenetic MapXq26.3UniSTS
HuRefX124,365,438 - 124,365,612UniSTS
DXS1009E.1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,129,071 - 135,129,148UniSTSGRCh37
Build 36X134,956,737 - 134,956,814RGDNCBI36
CeleraX135,489,929 - 135,490,006RGD
Cytogenetic MapXq26.3UniSTS
HuRefX124,402,859 - 124,402,936UniSTS
G62608  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,091,881 - 135,092,222UniSTSGRCh37
Build 36X134,919,547 - 134,919,888RGDNCBI36
CeleraX135,452,659 - 135,453,000RGD
Cytogenetic MapXq26.3UniSTS
HuRefX124,365,692 - 124,366,033UniSTS
TNG Radiation Hybrid MapX31032.0UniSTS
DXS1009E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,129,081 - 135,129,156UniSTSGRCh37
Build 36X134,956,747 - 134,956,822RGDNCBI36
CeleraX135,489,939 - 135,490,014RGD
Cytogenetic MapXq26.3UniSTS
HuRefX124,402,869 - 124,402,944UniSTS
DXS424  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X116,312,605 - 116,312,790UniSTSGRCh37
GRCh37X116,312,659 - 116,312,788UniSTSGRCh37
Build 36X116,196,633 - 116,196,818RGDNCBI36
CeleraX116,769,694 - 116,769,879RGD
CeleraX116,769,748 - 116,769,877UniSTS
Cytogenetic MapXq23-q24UniSTS
Cytogenetic MapXq26.3UniSTS
HuRefX105,808,789 - 105,808,918UniSTS
HuRefX105,808,735 - 105,808,920UniSTS
Stanford-G3 RH MapX3460.0UniSTS
Whitehead-YAC Contig MapX UniSTS
NCBI RH MapX586.7UniSTS
G09809  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,068,759 - 135,068,916UniSTSGRCh37
Build 36X134,896,425 - 134,896,582RGDNCBI36
CeleraX135,429,536 - 135,429,693RGD
Cytogenetic MapXq26.3UniSTS
HuRefX124,342,340 - 124,342,497UniSTS
SHGC-31813  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,129,139 - 135,129,288UniSTSGRCh37
Build 36X134,956,805 - 134,956,954RGDNCBI36
CeleraX135,489,997 - 135,490,146RGD
Cytogenetic MapXq26.3UniSTS
HuRefX124,402,927 - 124,403,076UniSTS
Stanford-G3 RH MapX4064.0UniSTS
NCBI RH MapX699.0UniSTS
GeneMap99-G3 RH MapX4205.0UniSTS
SLC9A6_3766  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,128,442 - 135,129,356UniSTSGRCh37
Build 36X134,956,108 - 134,957,022RGDNCBI36
CeleraX135,489,300 - 135,490,214RGD
HuRefX124,402,230 - 124,403,144UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3442
Count of miRNA genes:651
Interacting mature miRNAs:780
Transcripts:ENST00000370695, ENST00000370698, ENST00000370701
Prediction methods:Microtar, Miranda, 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 260 995 302 59 668 63 1205 99 2792 199 442 435 9 10 861 3
Low 2178 1956 1423 564 1255 401 3152 2086 942 220 1018 1178 165 1 1194 1927 3 2
Below cutoff 1 40 1 1 28 1 12

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_017160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001042537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001177651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB074255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF030409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL732579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC049169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D87743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB483081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC308430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  R15803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000370695   ⟹   ENSP00000359729
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX135,985,427 - 136,047,267 (+)Ensembl
RefSeq Acc Id: ENST00000370698   ⟹   ENSP00000359732
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX135,985,427 - 136,047,269 (+)Ensembl
RefSeq Acc Id: ENST00000370701   ⟹   ENSP00000359735
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX135,985,135 - 136,047,130 (+)Ensembl
RefSeq Acc Id: ENST00000626147
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,033,034 - 136,044,470 (+)Ensembl
RefSeq Acc Id: ENST00000627534   ⟹   ENSP00000486743
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX135,985,433 - 135,998,883 (+)Ensembl
RefSeq Acc Id: ENST00000630721   ⟹   ENSP00000487486
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX135,985,435 - 136,047,247 (+)Ensembl
RefSeq Acc Id: ENST00000636092   ⟹   ENSP00000490406
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX135,974,636 - 136,047,267 (+)Ensembl
RefSeq Acc Id: ENST00000636206   ⟹   ENSP00000490752
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX135,985,435 - 136,047,261 (+)Ensembl
RefSeq Acc Id: ENST00000636347   ⟹   ENSP00000490648
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX135,973,841 - 136,047,267 (+)Ensembl
RefSeq Acc Id: ENST00000636625
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,029,443 - 136,047,241 (+)Ensembl
RefSeq Acc Id: ENST00000636798
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,010,120 - 136,047,247 (+)Ensembl
RefSeq Acc Id: ENST00000637195   ⟹   ENSP00000490330
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX135,974,637 - 136,047,247 (+)Ensembl
RefSeq Acc Id: ENST00000637234   ⟹   ENSP00000490527
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX135,974,764 - 136,047,267 (+)Ensembl
RefSeq Acc Id: ENST00000637581   ⟹   ENSP00000490731
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX135,983,467 - 136,047,267 (+)Ensembl
RefSeq Acc Id: ENST00000638078   ⟹   ENSP00000489827
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,024,456 - 136,040,084 (+)Ensembl
RefSeq Acc Id: ENST00000643775
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX135,985,716 - 136,030,460 (+)Ensembl
RefSeq Acc Id: ENST00000674809   ⟹   ENSP00000502455
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX135,985,716 - 136,010,794 (+)Ensembl
RefSeq Acc Id: ENST00000675550
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX135,985,718 - 136,000,278 (+)Ensembl
RefSeq Acc Id: ENST00000675856
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX135,985,716 - 136,039,325 (+)Ensembl
RefSeq Acc Id: ENST00000676043   ⟹   ENSP00000501920
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX135,985,716 - 136,010,578 (+)Ensembl
RefSeq Acc Id: ENST00000676233
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,039,182 - 136,046,926 (+)Ensembl
RefSeq Acc Id: ENST00000678163   ⟹   ENSP00000502845
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX135,985,435 - 136,047,269 (+)Ensembl
RefSeq Acc Id: NM_001042537   ⟹   NP_001036002
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X135,985,435 - 136,047,269 (+)NCBI
GRCh37X135,067,583 - 135,129,428 (+)ENTREZGENE
Build 36X134,895,252 - 134,957,094 (+)NCBI Archive
HuRefX124,341,164 - 124,403,216 (+)ENTREZGENE
CHM1_1X134,978,474 - 135,040,349 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001177651   ⟹   NP_001171122
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X135,985,435 - 136,047,269 (+)NCBI
GRCh37X135,067,583 - 135,129,428 (+)NCBI
HuRefX124,341,164 - 124,403,216 (+)ENTREZGENE
CHM1_1X134,978,471 - 135,040,349 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001330652   ⟹   NP_001317581
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X135,985,435 - 136,047,269 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001379110   ⟹   NP_001366039
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X135,985,435 - 136,047,269 (+)NCBI
RefSeq Acc Id: NM_006359   ⟹   NP_006350
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X135,985,435 - 136,047,269 (+)NCBI
GRCh37X135,067,583 - 135,129,428 (+)ENTREZGENE
Build 36X134,895,252 - 134,957,094 (+)NCBI Archive
HuRefX124,341,164 - 124,403,216 (+)ENTREZGENE
CHM1_1X134,978,474 - 135,040,349 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006724726   ⟹   XP_006724789
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X135,985,303 - 136,047,131 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029223   ⟹   XP_016884712
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X135,974,596 - 136,047,131 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029224   ⟹   XP_016884713
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X135,983,473 - 136,047,131 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029225   ⟹   XP_016884714
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X135,985,428 - 136,047,131 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001171122   ⟸   NM_001177651
- Peptide Label: isoform c
- UniProtKB: Q92581 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001036002   ⟸   NM_001042537
- Peptide Label: isoform a precursor
- UniProtKB: Q92581 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_006350   ⟸   NM_006359
- Peptide Label: isoform b precursor
- UniProtKB: Q92581 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006724789   ⟸   XM_006724726
- Peptide Label: isoform X1
- UniProtKB: Q92581 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016884712   ⟸   XM_017029223
- Peptide Label: isoform X1
- UniProtKB: Q92581 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016884713   ⟸   XM_017029224
- Peptide Label: isoform X1
- UniProtKB: Q92581 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016884714   ⟸   XM_017029225
- Peptide Label: isoform X2
- UniProtKB: A0A1B0GV11 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001317581   ⟸   NM_001330652
- Peptide Label: isoform d
- UniProtKB: A0A1B0GV11 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001366039   ⟸   NM_001379110
- Peptide Label: isoform 5
RefSeq Acc Id: ENSP00000359729   ⟸   ENST00000370695
RefSeq Acc Id: ENSP00000359732   ⟸   ENST00000370698
RefSeq Acc Id: ENSP00000359735   ⟸   ENST00000370701
RefSeq Acc Id: ENSP00000490752   ⟸   ENST00000636206
RefSeq Acc Id: ENSP00000490406   ⟸   ENST00000636092
RefSeq Acc Id: ENSP00000490648   ⟸   ENST00000636347
RefSeq Acc Id: ENSP00000490731   ⟸   ENST00000637581
RefSeq Acc Id: ENSP00000490527   ⟸   ENST00000637234
RefSeq Acc Id: ENSP00000490330   ⟸   ENST00000637195
RefSeq Acc Id: ENSP00000489827   ⟸   ENST00000638078
RefSeq Acc Id: ENSP00000486743   ⟸   ENST00000627534
RefSeq Acc Id: ENSP00000487486   ⟸   ENST00000630721
RefSeq Acc Id: ENSP00000502455   ⟸   ENST00000674809
RefSeq Acc Id: ENSP00000501920   ⟸   ENST00000676043
RefSeq Acc Id: ENSP00000502845   ⟸   ENST00000678163
Protein Domains
Na_H_Exchanger

Promoters
RGD ID:6809275
Promoter ID:HG_KWN:68185
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000370695,   NM_001042537,   NM_001177651,   NM_006359
Position:
Human AssemblyChrPosition (strand)Source
Build 36X134,894,646 - 134,895,332 (+)MPROMDB
RGD ID:13628198
Promoter ID:EPDNEW_H29374
Type:initiation region
Name:SLC9A6_1
Description:solute carrier family 9 member A6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29375  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X135,985,455 - 135,985,515EPDNEW
RGD ID:13628200
Promoter ID:EPDNEW_H29375
Type:single initiation site
Name:SLC9A6_2
Description:solute carrier family 9 member A6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29374  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X136,012,670 - 136,012,730EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006359.3(SLC9A6):c.916_924del (p.Gly306_Ala308del) deletion Christianson syndrome [RCV000022841] ChrX:136010554..136010562 [GRCh38]
ChrX:135092713..135092721 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_006359.3(SLC9A6):c.576C>T (p.Phe192=) single nucleotide variant Christianson syndrome [RCV000554011]|not specified [RCV000609426] ChrX:135998550 [GRCh38]
ChrX:135080709 [GRCh37]
ChrX:Xq26.3
likely benign
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_006359.3(SLC9A6):c.764_769del (p.Glu255_Ser256del) deletion Christianson syndrome [RCV000012231] ChrX:136002171..136002176 [GRCh38]
ChrX:135084330..135084335 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_006359.3(SLC9A6):c.507+3_507+4delinsCC indel Christianson syndrome [RCV000012233] ChrX:135998188..135998189 [GRCh38]
ChrX:135080347..135080348 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_006359.3(SLC9A6):c.512_513del (p.His171fs) deletion Christianson syndrome [RCV000012234] ChrX:135998486..135998487 [GRCh38]
ChrX:135080645..135080646 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_006359.3(SLC9A6):c.61G>C (p.Ala21Pro) single nucleotide variant not provided [RCV000520357] ChrX:135985563 [GRCh38]
ChrX:135067722 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_006359.3(SLC9A6):c.485A>G (p.Tyr162Cys) single nucleotide variant Christianson syndrome [RCV000543846] ChrX:135998163 [GRCh38]
ChrX:135080322 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_006359.3(SLC9A6):c.1402C>T (p.Arg468Ter) single nucleotide variant Christianson syndrome [RCV000012232]|not provided [RCV000627211] ChrX:136024365 [GRCh38]
ChrX:135106524 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_006359.3(SLC9A6):c.1543G>T (p.Glu515Ter) single nucleotide variant Christianson syndrome [RCV000077787] ChrX:136030154 [GRCh38]
ChrX:135112313 [GRCh37]
ChrX:Xq26.3
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)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)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:10679-156022206)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)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 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
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 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 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
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-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 Xq26.3(chrX:136005008-136665975)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054250]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054250]|See cases [RCV000054250] ChrX:136005008..136665975 [GRCh38]
ChrX:135196639..135748134 [GRCh37]
ChrX:134914833..135575800 [NCBI36]
ChrX:Xq26.3
uncertain significance
NM_006359.3(SLC9A6):c.286G>C (p.Ala96Pro) single nucleotide variant not provided [RCV000657963] ChrX:135985788 [GRCh38]
ChrX:135067947 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_006359.3(SLC9A6):c.1366+8G>A single nucleotide variant not specified [RCV000081394] ChrX:136022705 [GRCh38]
ChrX:135104864 [GRCh37]
ChrX:Xq26.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_006359.3(SLC9A6):c.1520+4A>G single nucleotide variant Christianson syndrome [RCV000990952]|History of neurodevelopmental disorder [RCV000715070]|not specified [RCV000081395] ChrX:136024487 [GRCh38]
ChrX:135106646 [GRCh37]
ChrX:Xq26.3
benign|uncertain significance
NM_006359.3(SLC9A6):c.1827T>C (p.Thr609=) single nucleotide variant not specified [RCV000081396] ChrX:136044541 [GRCh38]
ChrX:135126700 [GRCh37]
ChrX:Xq26.3
likely benign|uncertain significance
NM_006359.3(SLC9A6):c.976C>T (p.Gln326Ter) single nucleotide variant not provided [RCV000081397] ChrX:136012979 [GRCh38]
ChrX:135095138 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_001042537.1(SLC9A6):c.1148G>A (p.Gly383Asp) single nucleotide variant Christianson syndrome [RCV001004677] ChrX:136013349 [GRCh38]
ChrX:135095508 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_006359.3(SLC9A6):c.534T>C (p.Ser178=) single nucleotide variant Christianson syndrome [RCV000231992]|History of neurodevelopmental disorder [RCV000717664]|not specified [RCV000128150] ChrX:135998508 [GRCh38]
ChrX:135080667 [GRCh37]
ChrX:Xq26.3
likely pathogenic|benign
NM_006359.3(SLC9A6):c.804-6C>T single nucleotide variant Christianson syndrome [RCV000473826]|not specified [RCV000147546] ChrX:136010436 [GRCh38]
ChrX:135092595 [GRCh37]
ChrX:Xq26.3
benign
NM_006359.3(SLC9A6):c.861G>A (p.Ala287=) single nucleotide variant not specified [RCV000128152] ChrX:136010499 [GRCh38]
ChrX:135092658 [GRCh37]
ChrX:Xq26.3
benign
NM_006359.3(SLC9A6):c.1089A>C (p.Ala363=) single nucleotide variant Christianson syndrome [RCV000475960]|History of neurodevelopmental disorder [RCV000715100]|not specified [RCV000147536] ChrX:136013386 [GRCh38]
ChrX:135095545 [GRCh37]
ChrX:Xq26.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_006359.3(SLC9A6):c.1520+10A>G single nucleotide variant Christianson syndrome [RCV000463980]|not specified [RCV000128156] ChrX:136024493 [GRCh38]
ChrX:135106652 [GRCh37]
ChrX:Xq26.3
benign
NM_006359.3(SLC9A6):c.1551+11G>A single nucleotide variant not specified [RCV000128157] ChrX:136030173 [GRCh38]
ChrX:135112332 [GRCh37]
ChrX:Xq26.3
benign
NM_006359.3(SLC9A6):c.1552-3C>T single nucleotide variant Christianson syndrome [RCV000540036]|not specified [RCV000194620] ChrX:136033411 [GRCh38]
ChrX:135115570 [GRCh37]
ChrX:Xq26.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006359.3(SLC9A6):c.1607G>A (p.Arg536Gln) single nucleotide variant Christianson syndrome [RCV001080901]|History of neurodevelopmental disorder [RCV000715113]|Intellectual disability [RCV001251650]|not provided [RCV000223989]|not specified [RCV000174756] ChrX:136033469 [GRCh38]
ChrX:135115628 [GRCh37]
ChrX:Xq26.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_006359.3(SLC9A6):c.1632-4G>A single nucleotide variant Christianson syndrome [RCV000228298]|History of neurodevelopmental disorder [RCV000715119]|not provided [RCV000857967]|not specified [RCV000147538] ChrX:136040072 [GRCh38]
ChrX:135122231 [GRCh37]
ChrX:Xq26.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_006359.3(SLC9A6):c.1659C>T (p.Ser553=) single nucleotide variant Christianson syndrome [RCV000460704]|History of neurodevelopmental disorder [RCV000715078]|not specified [RCV000147539] ChrX:136040103 [GRCh38]
ChrX:135122262 [GRCh37]
ChrX:Xq26.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_006359.3(SLC9A6):c.*8A>T single nucleotide variant Christianson syndrome [RCV000861304]|History of neurodevelopmental disorder [RCV000715114]|Intellectual disability [RCV001251649]|not specified [RCV000128162] ChrX:136044732 [GRCh38]
ChrX:135126891 [GRCh37]
ChrX:Xq26.3
benign|likely benign|uncertain significance
NM_006359.3(SLC9A6):c.141C>T (p.Gly47=) single nucleotide variant Christianson syndrome [RCV001078789]|not provided [RCV000724400]|not specified [RCV000213002] ChrX:135985643 [GRCh38]
ChrX:135067802 [GRCh37]
ChrX:Xq26.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
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
NM_001042537.1(SLC9A6):c.*5_*8delinsTT indel not provided [RCV000993016]|not specified [RCV000175063] ChrX:136044729..136044732 [GRCh38]
ChrX:135126888..135126891 [GRCh37]
ChrX:Xq26.3
benign|uncertain significance
NM_001177651.2(SLC9A6):c.-56-28A>C single nucleotide variant not provided [RCV000173403] ChrX:135985575 [GRCh38]
ChrX:135067734 [GRCh37]
ChrX:Xq26.3
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: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:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_006359.3(SLC9A6):c.1528G>A (p.Val510Ile) single nucleotide variant not provided [RCV000174561] ChrX:136030139 [GRCh38]
ChrX:135112298 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_006359.3(SLC9A6):c.1569A>C (p.Glu523Asp) single nucleotide variant not provided [RCV000723930] ChrX:136033431 [GRCh38]
ChrX:135115590 [GRCh37]
ChrX:Xq26.3
uncertain significance
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
NM_001042537.1(SLC9A6):c.183del (p.Lys61fs) deletion Christianson syndrome [RCV000147540] ChrX:135985685 [GRCh38]
ChrX:135067844 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_001042537.1(SLC9A6):c.2078T>G (p.Leu693Ter) single nucleotide variant Christianson syndrome [RCV000147541] ChrX:136044696 [GRCh38]
ChrX:135126855 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_006359.3(SLC9A6):c.25G>T (p.Ala9Ser) single nucleotide variant Christianson syndrome [RCV000462225]|History of neurodevelopmental disorder [RCV000715111]|not provided [RCV000224732]|not specified [RCV000147542] ChrX:135985527 [GRCh38]
ChrX:135067686 [GRCh37]
ChrX:Xq26.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001042537.1(SLC9A6):c.367C>T (p.Pro123Ser) single nucleotide variant Christianson syndrome [RCV000147543] ChrX:135994827 [GRCh38]
ChrX:135076986 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_006359.3(SLC9A6):c.412A>G (p.Ser138Gly) single nucleotide variant Christianson syndrome [RCV000147544] ChrX:135994872 [GRCh38]
ChrX:135077031 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001042537.1(SLC9A6):c.685A>G (p.Ile229Val) single nucleotide variant Christianson syndrome [RCV000147545] ChrX:135998860 [GRCh38]
ChrX:135081019 [GRCh37]
ChrX:Xq26.3
uncertain significance
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
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 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
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 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3 copy number gain See cases [RCV000138145] ChrX:117260292..140201321 [GRCh38]
ChrX:116394255..139283477 [GRCh37]
ChrX:116278283..139111143 [NCBI36]
ChrX:Xq23-27.1
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
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 Xq26.2-26.3(chrX:133532321-137519462)x2 copy number gain See cases [RCV000140818] ChrX:133532321..137519462 [GRCh38]
ChrX:132666349..136601621 [GRCh37]
ChrX:132494015..136429287 [NCBI36]
ChrX:Xq26.2-26.3
likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
NM_006359.3(SLC9A6):c.508-1G>A single nucleotide variant not provided [RCV000153971] ChrX:135998481 [GRCh38]
ChrX:135080640 [GRCh37]
ChrX:Xq26.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.3(chrX:135067386-135068117)x0 copy number loss See cases [RCV000240185] ChrX:135067386..135068117 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_006359.3(SLC9A6):c.514T>G (p.Phe172Val) single nucleotide variant not provided [RCV000178269] ChrX:135998488 [GRCh38]
ChrX:135080647 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_006359.3(SLC9A6):c.885C>G (p.Phe295Leu) single nucleotide variant not provided [RCV000179915] ChrX:136010523 [GRCh38]
ChrX:135092682 [GRCh37]
ChrX:Xq26.3
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_006359.3(SLC9A6):c.*12C>T single nucleotide variant not specified [RCV000192610] ChrX:136044736 [GRCh38]
ChrX:135126895 [GRCh37]
ChrX:Xq26.3
conflicting interpretations of pathogenicity|uncertain significance
NM_001042537.1(SLC9A6):c.321T>G (p.Ile107Met) single nucleotide variant not specified [RCV000193658] ChrX:135985823 [GRCh38]
ChrX:135067982 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_006359.3(SLC9A6):c.512A>T (p.His171Leu) single nucleotide variant Christianson syndrome [RCV001342805]|not specified [RCV000189401] ChrX:135998486 [GRCh38]
ChrX:135080645 [GRCh37]
ChrX:Xq26.3
likely benign|uncertain significance
NM_006359.3(SLC9A6):c.1347A>G (p.Gln449=) single nucleotide variant not specified [RCV000189402] ChrX:136022678 [GRCh38]
ChrX:135104837 [GRCh37]
ChrX:Xq26.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_006359.3(SLC9A6):c.67A>G (p.Arg23Gly) single nucleotide variant not specified [RCV000189403] ChrX:135985569 [GRCh38]
ChrX:135067728 [GRCh37]
ChrX:Xq26.3
likely benign|uncertain significance
NM_006359.3(SLC9A6):c.76C>G (p.Arg26Gly) single nucleotide variant not specified [RCV000189404] ChrX:135985578 [GRCh38]
ChrX:135067737 [GRCh37]
ChrX:Xq26.3
likely benign
NM_001042537.1(SLC9A6):c.494A>G (p.Asn165Ser) single nucleotide variant not specified [RCV000502979] ChrX:135994954 [GRCh38]
ChrX:135077113 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_006359.3(SLC9A6):c.508A>G (p.Arg170Gly) single nucleotide variant Christianson syndrome [RCV001229044]|not provided [RCV000189406] ChrX:135998482 [GRCh38]
ChrX:135080641 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_006359.3(SLC9A6):c.547G>A (p.Ala183Thr) single nucleotide variant Christianson syndrome [RCV001051665]|not provided [RCV000189407] ChrX:135998521 [GRCh38]
ChrX:135080680 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_006359.2(SLC9A6):c.584+1G>A single nucleotide variant not provided [RCV000189408] ChrX:135998559 [GRCh38]
ChrX:135080718 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_006359.3(SLC9A6):c.1631+1G>A single nucleotide variant not provided [RCV000189409] ChrX:136033494 [GRCh38]
ChrX:135115653 [GRCh37]
ChrX:Xq26.3
pathogenic|likely pathogenic
NM_006359.3(SLC9A6):c.584+5G>A single nucleotide variant not provided [RCV000595933] ChrX:135998563 [GRCh38]
ChrX:135080722 [GRCh37]
ChrX:Xq26.3
pathogenic|likely pathogenic
NM_006359.2(SLC9A6):c.1076G>A (p.Gly359Asp) single nucleotide variant not provided [RCV000189411] ChrX:136013373 [GRCh38]
ChrX:135095532 [GRCh37]
ChrX:Xq26.3
likely pathogenic
NM_006359.3(SLC9A6):c.1130G>C (p.Arg377Thr) single nucleotide variant not provided [RCV000766836]|not specified [RCV000189412] ChrX:136013427 [GRCh38]
ChrX:135095586 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_006359.2(SLC9A6):c.1649T>C (p.Leu550Pro) single nucleotide variant not provided [RCV000189414] ChrX:136040093 [GRCh38]
ChrX:135122252 [GRCh37]
ChrX:Xq26.3
likely pathogenic
NM_006359.3(SLC9A6):c.1721G>A (p.Ser574Asn) single nucleotide variant not provided [RCV000189415] ChrX:136040165 [GRCh38]
ChrX:135122324 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_006359.3(SLC9A6):c.148G>T (p.Ala50Ser) single nucleotide variant Christianson syndrome [RCV000865182]|not specified [RCV000189416] ChrX:135985650 [GRCh38]
ChrX:135067809 [GRCh37]
ChrX:Xq26.3
likely benign|uncertain significance
NM_001042537.1(SLC9A6):c.526-9_526-5del deletion Christianson syndrome [RCV000240849]|Intellectual disability [RCV000224024]|not specified [RCV000189417] ChrX:135998095..135998099 [GRCh38]
ChrX:135080254..135080258 [GRCh37]
ChrX:Xq26.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006359.2(SLC9A6):c.585dupG (p.Ser196Valfs) duplication not provided [RCV000189418] ChrX:135998854..135998855 [GRCh38]
ChrX:135081013..135081014 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_001177651.2(SLC9A6):c.-25_-23CGG[5] microsatellite not specified [RCV000189419] ChrX:135985633..135985634 [GRCh38]
ChrX:135067792..135067793 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_006359.3(SLC9A6):c.346dup (p.Leu116fs) duplication not provided [RCV000189420] ChrX:135994805..135994806 [GRCh38]
ChrX:135076964..135076965 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_006359.3(SLC9A6):c.623C>T (p.Thr208Met) single nucleotide variant not provided [RCV000189421] ChrX:135998894 [GRCh38]
ChrX:135081053 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_006359.3(SLC9A6):c.1558C>A (p.Pro520Thr) single nucleotide variant Christianson syndrome [RCV001346203]|not provided [RCV000189422] ChrX:136033420 [GRCh38]
ChrX:135115579 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_006359.2(SLC9A6):c.220C>G (p.Leu74Val) single nucleotide variant not provided [RCV000189423] ChrX:135985722 [GRCh38]
ChrX:135067881 [GRCh37]
ChrX:Xq26.3
likely pathogenic
NM_006359.3(SLC9A6):c.855_856CA[1] (p.Thr286fs) microsatellite not provided [RCV000189424] ChrX:136010493..136010494 [GRCh38]
ChrX:135092652..135092653 [GRCh37]
ChrX:Xq26.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001042537:c.916delC deletion Christianson syndrome [RCV000236651] ChrX:Xq26.3 pathogenic
NM_006359.3(SLC9A6):c.1224C>T (p.Val408=) single nucleotide variant Christianson syndrome [RCV000555538] ChrX:136016728 [GRCh38]
ChrX:135098887 [GRCh37]
ChrX:Xq26.3
likely benign
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:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
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
SLC9A6, 5-BP DEL, IVS2AS deletion Christianson syndrome [RCV000240849] ChrX:Xq26.3 pathogenic
NM_006359.3(SLC9A6):c.1440C>T (p.Ser480=) single nucleotide variant not provided [RCV000725290]|not specified [RCV000360428] ChrX:136024403 [GRCh38]
ChrX:135106562 [GRCh37]
ChrX:Xq26.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006359.3(SLC9A6):c.1971G>A (p.Pro657=) single nucleotide variant not provided [RCV000295638] ChrX:136044685 [GRCh38]
ChrX:135126844 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_006359.3(SLC9A6):c.418A>G (p.Thr140Ala) single nucleotide variant Christianson syndrome [RCV001300841]|not provided [RCV000520347] ChrX:135994878 [GRCh38]
ChrX:135077037 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_006359.3(SLC9A6):c.1991C>T (p.Thr664Met) single nucleotide variant Christianson syndrome [RCV001321181]|not provided [RCV000724968]|not specified [RCV000316927] ChrX:136044705 [GRCh38]
ChrX:135126864 [GRCh37]
ChrX:Xq26.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006359.3(SLC9A6):c.945+7T>G single nucleotide variant not provided [RCV000350312] ChrX:136010590 [GRCh38]
ChrX:135092749 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_006359.3(SLC9A6):c.508-6del deletion not specified [RCV000322967] ChrX:135998465 [GRCh38]
ChrX:135080624 [GRCh37]
ChrX:Xq26.3
benign
NM_006359.3(SLC9A6):c.-42G>A single nucleotide variant not specified [RCV000600530] ChrX:135985461 [GRCh38]
ChrX:135067620 [GRCh37]
ChrX:Xq26.3
likely benign
NM_006359.3(SLC9A6):c.1200A>G (p.Thr400=) single nucleotide variant not provided [RCV000599028] ChrX:136016704 [GRCh38]
ChrX:135098863 [GRCh37]
ChrX:Xq26.3
uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_006359.3(SLC9A6):c.1284_1290delinsGTCTTGGGAAGAGCT (p.Asn428fs) indel not provided [RCV000524019] ChrX:136022615..136022621 [GRCh38]
ChrX:135104774..135104780 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_006359.3(SLC9A6):c.1632-19_1632-3del deletion Autistic disorder of childhood onset [RCV000735325] ChrX:136040055..136040071 [GRCh38]
ChrX:135122214..135122230 [GRCh37]
ChrX:Xq26.3
likely 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_006359.3(SLC9A6):c.18G>C (p.Trp6Cys) single nucleotide variant not provided [RCV000523044] ChrX:135985520 [GRCh38]
ChrX:135067679 [GRCh37]
ChrX:Xq26.3
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
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
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_006359.3(SLC9A6):c.1255-4T>G single nucleotide variant not specified [RCV000427823] ChrX:136022582 [GRCh38]
ChrX:135104741 [GRCh37]
ChrX:Xq26.3
likely benign
NM_001042537.1(SLC9A6):c.1590T>C (p.Thr530=) single nucleotide variant not provided [RCV000939129]|not specified [RCV000431608] ChrX:136024457 [GRCh38]
ChrX:135106616 [GRCh37]
ChrX:Xq26.3
likely benign
NM_006359.3(SLC9A6):c.*16C>G single nucleotide variant not specified [RCV000418260] ChrX:136044740 [GRCh38]
ChrX:135126899 [GRCh37]
ChrX:Xq26.3
likely benign
NM_006359.3(SLC9A6):c.1203G>A (p.Leu401=) single nucleotide variant not specified [RCV000418279] ChrX:136016707 [GRCh38]
ChrX:135098866 [GRCh37]
ChrX:Xq26.3
likely benign
NM_006359.3(SLC9A6):c.1551+10C>T single nucleotide variant not specified [RCV000442196] ChrX:136030172 [GRCh38]
ChrX:135112331 [GRCh37]
ChrX:Xq26.3
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_006359.3(SLC9A6):c.213C>T (p.Ser71=) single nucleotide variant not specified [RCV000442574] ChrX:135985715 [GRCh38]
ChrX:135067874 [GRCh37]
ChrX:Xq26.3
likely benign
NM_006359.3(SLC9A6):c.1520+14A>G single nucleotide variant not specified [RCV000432029] ChrX:136024497 [GRCh38]
ChrX:135106656 [GRCh37]
ChrX:Xq26.3
likely benign
NM_001042537.1(SLC9A6):c.153A>G (p.Arg51=) single nucleotide variant not provided [RCV000646196]|not specified [RCV000419289] ChrX:135985655 [GRCh38]
ChrX:135067814 [GRCh37]
ChrX:Xq26.3
benign|likely benign
NM_006359.3(SLC9A6):c.698-5A>G single nucleotide variant History of neurodevelopmental disorder [RCV000715130]|not specified [RCV000432454] ChrX:136002103 [GRCh38]
ChrX:135084262 [GRCh37]
ChrX:Xq26.3
likely benign|uncertain significance
NM_006359.3(SLC9A6):c.960C>T (p.Thr320=) single nucleotide variant not specified [RCV000425588] ChrX:136012963 [GRCh38]
ChrX:135095122 [GRCh37]
ChrX:Xq26.3
likely benign
NM_006359.3(SLC9A6):c.-29T>C single nucleotide variant not specified [RCV000439846] ChrX:135985474 [GRCh38]
ChrX:135067633 [GRCh37]
ChrX:Xq26.3
likely benign
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_006359.3(SLC9A6):c.198C>T (p.Ser66=) single nucleotide variant not specified [RCV000440082] ChrX:135985700 [GRCh38]
ChrX:135067859 [GRCh37]
ChrX:Xq26.3
likely benign
NM_006359.3(SLC9A6):c.300C>T (p.His100=) single nucleotide variant not specified [RCV000422613] ChrX:135985802 [GRCh38]
ChrX:135067961 [GRCh37]
ChrX:Xq26.3
likely benign
NM_006359.3(SLC9A6):c.2T>G (p.Met1Arg) single nucleotide variant not provided [RCV000433846] ChrX:135985504 [GRCh38]
ChrX:135067663 [GRCh37]
ChrX:Xq26.3
likely pathogenic
NM_006359.3(SLC9A6):c.171C>G (p.Ile57Met) single nucleotide variant Christianson syndrome [RCV001088949]|not provided [RCV000433575] ChrX:135985673 [GRCh38]
ChrX:135067832 [GRCh37]
ChrX:Xq26.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
NM_006359.3(SLC9A6):c.786del (p.Ala263fs) deletion Christianson syndrome [RCV000417039] ChrX:136002195 [GRCh38]
ChrX:135084354 [GRCh37]
ChrX:Xq26.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1 copy number loss See cases [RCV000448865] ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NM_001042537.1(SLC9A6):c.1299_1300del (p.Phe434fs) deletion Christianson syndrome [RCV001251111]|Global developmental delay [RCV001004015]|not provided [RCV000482382] ChrX:136016706..136016707 [GRCh38]
ChrX:135098865..135098866 [GRCh37]
ChrX:Xq26.3
pathogenic|likely pathogenic
NM_001042537.1(SLC9A6):c.759A>G (p.Leu253=) single nucleotide variant not provided [RCV000467529] ChrX:135998934 [GRCh38]
ChrX:135081093 [GRCh37]
ChrX:Xq26.3
likely benign
NM_006359.3(SLC9A6):c.362A>G (p.His121Arg) single nucleotide variant Christianson syndrome [RCV000474987] ChrX:135994822 [GRCh38]
ChrX:135076981 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001042537.1(SLC9A6):c.384T>C (p.Asn128=) single nucleotide variant not provided [RCV000468100] ChrX:135994844 [GRCh38]
ChrX:135077003 [GRCh37]
ChrX:Xq26.3
likely benign
NM_001042537.1(SLC9A6):c.1764G>A (p.Pro588=) single nucleotide variant not provided [RCV000475624] ChrX:136040112 [GRCh38]
ChrX:135122271 [GRCh37]
ChrX:Xq26.3
likely benign
NM_001042537.1(SLC9A6):c.1116C>G (p.Thr372=) single nucleotide variant not provided [RCV000468522] ChrX:136013023 [GRCh38]
ChrX:135095182 [GRCh37]
ChrX:Xq26.3
likely benign
NM_006359.3(SLC9A6):c.-5del deletion not specified [RCV000481437] ChrX:135985493 [GRCh38]
ChrX:135067652 [GRCh37]
ChrX:Xq26.3
likely benign
NM_006359.2(SLC9A6):c.509_510delGA (p.Arg170Thrfs) microsatellite not provided [RCV000479415] ChrX:135998480..135998481 [GRCh38]
ChrX:135080639..135080640 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_006359.3(SLC9A6):c.1141-8C>T single nucleotide variant Christianson syndrome [RCV000473803] ChrX:136016637 [GRCh38]
ChrX:135098796 [GRCh37]
ChrX:Xq26.3
likely benign
NM_001042537.1(SLC9A6):c.1834-6A>G single nucleotide variant not specified [RCV000501576] ChrX:136044446 [GRCh38]
ChrX:135126605 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001042537.1(SLC9A6):c.526-8T>C single nucleotide variant not specified [RCV000499423] ChrX:135998100 [GRCh38]
ChrX:135080259 [GRCh37]
ChrX:Xq26.3
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_006359.3(SLC9A6):c.803+1G>A single nucleotide variant Christianson syndrome [RCV000792492]|not provided [RCV000498280] ChrX:136002214 [GRCh38]
ChrX:135084373 [GRCh37]
ChrX:Xq26.3
pathogenic|likely pathogenic
NM_006359.3(SLC9A6):c.791T>G (p.Ile264Arg) single nucleotide variant not provided [RCV000498299] ChrX:136002201 [GRCh38]
ChrX:135084360 [GRCh37]
ChrX:Xq26.3
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_006359.3(SLC9A6):c.137G>A (p.Gly46Asp) single nucleotide variant not provided [RCV000494024] ChrX:135985639 [GRCh38]
ChrX:135067798 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_006359.3(SLC9A6):c.122G>A (p.Gly41Glu) single nucleotide variant not provided [RCV000494259] ChrX:135985624 [GRCh38]
ChrX:135067783 [GRCh37]
ChrX:Xq26.3
uncertain significance
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 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
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
GRCh37/hg19 Xq26.2-26.3(chrX:133081342-135086194)x0 copy number loss See cases [RCV000510757] ChrX:133081342..135086194 [GRCh37]
ChrX:Xq26.2-26.3
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NM_006359.3(SLC9A6):c.1488C>T (p.Gly496=) single nucleotide variant Christianson syndrome [RCV000525320] ChrX:136024451 [GRCh38]
ChrX:135106610 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_006359.3(SLC9A6):c.269T>C (p.Leu90Pro) single nucleotide variant Christianson syndrome [RCV000533095] ChrX:135985771 [GRCh38]
ChrX:135067930 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_006359.3(SLC9A6):c.-11C>T single nucleotide variant not specified [RCV000605198] ChrX:135985492 [GRCh38]
ChrX:135067651 [GRCh37]
ChrX:Xq26.3
likely benign
NM_006359.3(SLC9A6):c.1843A>G (p.Ser615Gly) single nucleotide variant Christianson syndrome [RCV000646195] ChrX:136044557 [GRCh38]
ChrX:135126716 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_006359.3(SLC9A6):c.1066T>C (p.Leu356=) single nucleotide variant not provided [RCV000896999]|not specified [RCV000607196] ChrX:136013363 [GRCh38]
ChrX:135095522 [GRCh37]
ChrX:Xq26.3
likely benign
NM_001042537.1(SLC9A6):c.1346C>A (p.Ala449Glu) single nucleotide variant Astigmatism [RCV000626738] ChrX:136016754 [GRCh38]
ChrX:135098913 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_006359.3(SLC9A6):c.326-16T>A single nucleotide variant not specified [RCV000612225] ChrX:135994770 [GRCh38]
ChrX:135076929 [GRCh37]
ChrX:Xq26.3
likely benign
NM_006359.3(SLC9A6):c.1641G>A (p.Lys547=) single nucleotide variant not specified [RCV000615024] ChrX:136040085 [GRCh38]
ChrX:135122244 [GRCh37]
ChrX:Xq26.3
likely benign
NM_006359.3(SLC9A6):c.325+14C>G single nucleotide variant not specified [RCV000612479] ChrX:135985841 [GRCh38]
ChrX:135068000 [GRCh37]
ChrX:Xq26.3
likely benign
NM_006359.3(SLC9A6):c.1143G>A (p.Leu381=) single nucleotide variant Christianson syndrome [RCV001083801]|History of neurodevelopmental disorder [RCV000720971]|not provided [RCV000594833] ChrX:136016647 [GRCh38]
ChrX:135098806 [GRCh37]
ChrX:Xq26.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006359.3(SLC9A6):c.1098G>A (p.Thr366=) single nucleotide variant not specified [RCV000616075] ChrX:136013395 [GRCh38]
ChrX:135095554 [GRCh37]
ChrX:Xq26.3
likely benign
NM_006359.3(SLC9A6):c.12C>G (p.Arg4=) single nucleotide variant not specified [RCV000602365] ChrX:135985514 [GRCh38]
ChrX:135067673 [GRCh37]
ChrX:Xq26.3
likely benign
NM_006359.3(SLC9A6):c.577G>A (p.Val193Ile) single nucleotide variant not provided [RCV000871818]|not specified [RCV000602377] ChrX:135998551 [GRCh38]
ChrX:135080710 [GRCh37]
ChrX:Xq26.3
likely benign
NM_006359.3(SLC9A6):c.912A>T (p.Ala304=) single nucleotide variant not provided [RCV000867618]|not specified [RCV000602392] ChrX:136010550 [GRCh38]
ChrX:135092709 [GRCh37]
ChrX:Xq26.3
likely benign
NM_006359.3(SLC9A6):c.946G>A (p.Val316Met) single nucleotide variant Christianson syndrome [RCV000532326] ChrX:136012949 [GRCh38]
ChrX:135095108 [GRCh37]
ChrX:Xq26.3
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
NM_006359.3(SLC9A6):c.430G>A (p.Val144Ile) single nucleotide variant not specified [RCV000600194] ChrX:135998108 [GRCh38]
ChrX:135080267 [GRCh37]
ChrX:Xq26.3
likely benign
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
NM_006359.3(SLC9A6):c.1520+6T>C single nucleotide variant Christianson syndrome [RCV000981713]|not specified [RCV000605891] ChrX:136024489 [GRCh38]
ChrX:135106648 [GRCh37]
ChrX:Xq26.3
benign|likely benign
NM_006359.3(SLC9A6):c.*5_*6del deletion History of neurodevelopmental disorder [RCV000715115] ChrX:136044729..136044730 [GRCh38]
ChrX:135126888..135126889 [GRCh37]
ChrX:Xq26.3
benign
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq25-26.3(chrX:126759247-135790885)x1 copy number loss not provided [RCV000684387] ChrX:126759247..135790885 [GRCh37]
ChrX:Xq25-26.3
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3 copy number gain not provided [RCV000684377] ChrX:117998704..140159954 [GRCh37]
ChrX:Xq24-27.1
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:120777368-139345946)x1 copy number loss not provided [RCV000684380] ChrX:120777368..139345946 [GRCh37]
ChrX:Xq24-27.1
pathogenic
NM_006359.3(SLC9A6):c.8G>T (p.Arg3Leu) single nucleotide variant Christianson syndrome [RCV000694032] ChrX:135985510 [GRCh38]
ChrX:135067669 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_006359.3(SLC9A6):c.1376G>A (p.Gly459Asp) single nucleotide variant Christianson syndrome [RCV000700654] ChrX:136024339 [GRCh38]
ChrX:135106498 [GRCh37]
ChrX:Xq26.3
likely pathogenic|uncertain significance
NM_001042537.1(SLC9A6):c.1929G>A (p.Pro643=) single nucleotide variant not provided [RCV000713359] ChrX:136044547 [GRCh38]
ChrX:135126706 [GRCh37]
ChrX:Xq26.3
likely benign
NM_006359.3(SLC9A6):c.619G>A (p.Val207Ile) single nucleotide variant Christianson syndrome [RCV000697166] ChrX:135998890 [GRCh38]
ChrX:135081049 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_006359.3(SLC9A6):c.114C>T (p.Asp38=) single nucleotide variant History of neurodevelopmental disorder [RCV000717888] ChrX:135985616 [GRCh38]
ChrX:135067775 [GRCh37]
ChrX:Xq26.3
likely benign
NM_006359.3(SLC9A6):c.1065A>G (p.Val355=) single nucleotide variant History of neurodevelopmental disorder [RCV000719466] ChrX:136013362 [GRCh38]
ChrX:135095521 [GRCh37]
ChrX:Xq26.3
likely benign
NM_006359.3(SLC9A6):c.1803A>T (p.Thr601=) single nucleotide variant Christianson syndrome [RCV000871440]|History of neurodevelopmental disorder [RCV000720372] ChrX:136044517 [GRCh38]
ChrX:135126676 [GRCh37]
ChrX:Xq26.3
likely benign
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
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)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
NM_001042537.1(SLC9A6):c.900-7T>C single nucleotide variant not provided [RCV000869757] ChrX:136010435 [GRCh38]
ChrX:135092594 [GRCh37]
ChrX:Xq26.3
likely benign
NM_001177651.2(SLC9A6):c.-57+30C>T single nucleotide variant not provided [RCV000762672] ChrX:135985507 [GRCh38]
ChrX:135067666 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001042537.1(SLC9A6):c.604-5G>T single nucleotide variant not provided [RCV000877055] ChrX:135998477 [GRCh38]
ChrX:135080636 [GRCh37]
ChrX:Xq26.3
likely benign
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_006359.3(SLC9A6):c.1569_1573del (p.Arg524fs) deletion Christianson syndrome [RCV000995874] ChrX:136033429..136033433 [GRCh38]
ChrX:135115588..135115592 [GRCh37]
ChrX:Xq26.3
pathogenic
GRCh37/hg19 Xq26.3(chrX:135092601-135092742)x4 copy number gain not provided [RCV000996092] ChrX:135092601..135092742 [GRCh37]
ChrX:Xq26.3
likely pathogenic
NM_006359.3(SLC9A6):c.478_479AT[1] (p.Phe161fs) microsatellite Christianson syndrome [RCV000770998] ChrX:135998156..135998157 [GRCh38]
ChrX:135080315..135080316 [GRCh37]
ChrX:Xq26.3
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_001042537.1(SLC9A6):c.2097T>A (p.Gly699=) single nucleotide variant not provided [RCV000944179] ChrX:136044715 [GRCh38]
ChrX:135126874 [GRCh37]
ChrX:Xq26.3
likely benign
NM_001042537.1(SLC9A6):c.1275C>T (p.Ile425=) single nucleotide variant not provided [RCV000862299] ChrX:136016683 [GRCh38]
ChrX:135098842 [GRCh37]
ChrX:Xq26.3
likely benign
NM_001042537.1(SLC9A6):c.276G>A (p.Lys92=) single nucleotide variant not provided [RCV000869234] ChrX:135985778 [GRCh38]
ChrX:135067937 [GRCh37]
ChrX:Xq26.3
likely benign
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NC_000023.11:g.135985135G>A single nucleotide variant not provided [RCV000832201] ChrX:135985135 [GRCh38]
ChrX:135067294 [GRCh37]
ChrX:Xq26.3
benign
NM_006359.3(SLC9A6):c.712A>G (p.Ile238Val) single nucleotide variant Christianson syndrome [RCV000800387] ChrX:136002122 [GRCh38]
ChrX:135084281 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_006359.3(SLC9A6):c.543A>G (p.Ala181=) single nucleotide variant Christianson syndrome [RCV000813072] ChrX:135998517 [GRCh38]
ChrX:135080676 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_006359.3(SLC9A6):c.227_244del (p.Ile76_Leu81del) deletion Christianson syndrome [RCV000808896] ChrX:135985722..135985739 [GRCh38]
ChrX:135067881..135067898 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001042537.1(SLC9A6):c.680+3A>G single nucleotide variant Christianson syndrome [RCV001202051]|not provided [RCV000993018] ChrX:135998561 [GRCh38]
ChrX:135080720 [GRCh37]
ChrX:Xq26.3
likely benign|uncertain significance
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
NM_006359.3(SLC9A6):c.1521-98T>G single nucleotide variant not provided [RCV000834562] ChrX:136030034 [GRCh38]
ChrX:135112193 [GRCh37]
ChrX:Xq26.3
likely benign
NM_006359.3(SLC9A6):c.1551+17G>A single nucleotide variant not provided [RCV000841339] ChrX:136030179 [GRCh38]
ChrX:135112338 [GRCh37]
ChrX:Xq26.3
likely benign
NM_006359.3(SLC9A6):c.7C>T (p.Arg3Trp) single nucleotide variant Christianson syndrome [RCV000813836] ChrX:135985509 [GRCh38]
ChrX:135067668 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_006359.3(SLC9A6):c.1367-1G>A single nucleotide variant Christianson syndrome [RCV000845288] ChrX:136024329 [GRCh38]
ChrX:135106488 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_006359.3(SLC9A6):c.1738-167T>G single nucleotide variant not provided [RCV000836475] ChrX:136044285 [GRCh38]
ChrX:135126444 [GRCh37]
ChrX:Xq26.3
benign
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
NC_000023.11:g.135985154C>T single nucleotide variant not provided [RCV000828993] ChrX:135985154 [GRCh38]
ChrX:135067313 [GRCh37]
ChrX:Xq26.3
likely benign
NM_006359.3(SLC9A6):c.453T>G (p.Phe151Leu) single nucleotide variant Christianson syndrome [RCV000802213] ChrX:135998131 [GRCh38]
ChrX:135080290 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001379110.1(SLC9A6):c.744-208del deletion not provided [RCV000837221] ChrX:136010225 [GRCh38]
ChrX:135092384 [GRCh37]
ChrX:Xq26.3
likely benign
NM_006359.3(SLC9A6):c.1098G>T (p.Thr366=) single nucleotide variant not provided [RCV000828607] ChrX:136013395 [GRCh38]
ChrX:135095554 [GRCh37]
ChrX:Xq26.3
likely benign
NM_006359.3(SLC9A6):c.326-125C>T single nucleotide variant not provided [RCV000837078] ChrX:135994661 [GRCh38]
ChrX:135076820 [GRCh37]
ChrX:Xq26.3
likely benign
NM_001042537.1(SLC9A6):c.1632A>C (p.Ser544=) single nucleotide variant not provided [RCV000977528] ChrX:136030147 [GRCh38]
ChrX:135112306 [GRCh37]
ChrX:Xq26.3
likely benign
GRCh37/hg19 Xq26.3(chrX:135081343-135627105)x3 copy number gain not provided [RCV000849676] ChrX:135081343..135627105 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001042537.1(SLC9A6):c.642C>T (p.Tyr214=) single nucleotide variant not provided [RCV000870321] ChrX:135998520 [GRCh38]
ChrX:135080679 [GRCh37]
ChrX:Xq26.3
benign
NM_001042537.1(SLC9A6):c.793+1G>A single nucleotide variant Intellectual disability [RCV000850210] ChrX:135998969 [GRCh38]
ChrX:135081128 [GRCh37]
ChrX:Xq26.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
NM_001379110.1(SLC9A6):c.971C>T (p.Ala324Val) single nucleotide variant Christianson syndrome [RCV001222469] ChrX:136013034 [GRCh38]
ChrX:135095193 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001379110.1(SLC9A6):c.-56-21C>A single nucleotide variant Christianson syndrome [RCV001209614] ChrX:135985582 [GRCh38]
ChrX:135067741 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001379110.1(SLC9A6):c.1582G>A (p.Gly528Ser) single nucleotide variant Christianson syndrome [RCV001223382] ChrX:136033414 [GRCh38]
ChrX:135115573 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001379110.1(SLC9A6):c.1246_1249del (p.Leu416fs) microsatellite Christianson syndrome [RCV001221608] ChrX:136022633..136022636 [GRCh38]
ChrX:135104792..135104795 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_001379110.1(SLC9A6):c.13A>C (p.Ile5Leu) single nucleotide variant Christianson syndrome [RCV001238532] ChrX:135985671 [GRCh38]
ChrX:135067830 [GRCh37]
ChrX:Xq26.3
uncertain significance
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
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
NM_006359.3(SLC9A6):c.751_753CTT[1] (p.Leu252del) microsatellite Christianson syndrome [RCV000990950] ChrX:136002161..136002163 [GRCh38]
ChrX:135084320..135084322 [GRCh37]
ChrX:Xq26.3
likely pathogenic
NM_006359.3(SLC9A6):c.1140+80dup duplication Christianson syndrome [RCV000990951] ChrX:136013505..136013506 [GRCh38]
ChrX:135095664..135095665 [GRCh37]
ChrX:Xq26.3
benign
NM_006359.3(SLC9A6):c.803+2dup duplication not provided [RCV000996021] ChrX:136002214..136002215 [GRCh38]
ChrX:135084373..135084374 [GRCh37]
ChrX:Xq26.3
likely pathogenic
NM_001379110.1(SLC9A6):c.548C>T (p.Thr183Met) single nucleotide variant Christianson syndrome [RCV001212192]|Intellectual disability [RCV001251651] ChrX:135998879 [GRCh38]
ChrX:135081038 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_006359.3(SLC9A6):c.369G>A (p.Pro123=) single nucleotide variant Christianson syndrome [RCV000920546] ChrX:135994829 [GRCh38]
ChrX:135076988 [GRCh37]
ChrX:Xq26.3
likely benign
NM_006359.3(SLC9A6):c.609G>A (p.Thr203=) single nucleotide variant Christianson syndrome [RCV000929323] ChrX:135998880 [GRCh38]
ChrX:135081039 [GRCh37]
ChrX:Xq26.3
likely benign
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_001379110.1(SLC9A6):c.992-3T>C single nucleotide variant Christianson syndrome [RCV001245424] ChrX:136013346 [GRCh38]
ChrX:135095505 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001042537.1(SLC9A6):c.1665A>T (p.Glu555Asp) single nucleotide variant not provided [RCV000993017] ChrX:136033431 [GRCh38]
ChrX:135115590 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_006359.3(SLC9A6):c.1904T>G (p.Phe635Cys) single nucleotide variant Christianson syndrome [RCV001035156] ChrX:136044618 [GRCh38]
ChrX:135126777 [GRCh37]
ChrX:Xq26.3
uncertain significance
NC_000023.11:g.(?_135985483)_(136024503_?)dup duplication Christianson syndrome [RCV001032238] ChrX:135067642..135106662 [GRCh37]
ChrX:Xq26.3
uncertain significance
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_001379110.1(SLC9A6):c.1832C>T (p.Thr611Ile) single nucleotide variant Christianson syndrome [RCV001237236] ChrX:136044516 [GRCh38]
ChrX:135126675 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001379110.1(SLC9A6):c.1555G>A (p.Gly519Ser) single nucleotide variant Christianson syndrome [RCV001213237] ChrX:136030136 [GRCh38]
ChrX:135112295 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001177651.2(SLC9A6):c.-57+26A>G single nucleotide variant Christianson syndrome [RCV001058825] ChrX:135985503 [GRCh38]
ChrX:135067662 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001379110.1(SLC9A6):c.1727G>A (p.Gly576Glu) single nucleotide variant Christianson syndrome [RCV001233445] ChrX:136040141 [GRCh38]
ChrX:135122300 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001379110.1(SLC9A6):c.1996C>T (p.Pro666Ser) single nucleotide variant Christianson syndrome [RCV001216484] ChrX:136044680 [GRCh38]
ChrX:135126839 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001379110.1(SLC9A6):c.1582-35del deletion Intellectual disability [RCV001257721] ChrX:136033379 [GRCh38]
ChrX:135115538 [GRCh37]
ChrX:Xq26.3
uncertain significance
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
NM_001379110.1(SLC9A6):c.1195-4_1201delinsAGGTTGCTG indel Intellectual disability [RCV001257722] ChrX:136022582..136022592 [GRCh38]
ChrX:135104741..135104751 [GRCh37]
ChrX:Xq26.3
likely benign
NM_001379110.1(SLC9A6):c.908G>T (p.Arg303Leu) single nucleotide variant not provided [RCV001288765] ChrX:136012971 [GRCh38]
ChrX:135095130 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001379110.1(SLC9A6):c.465del (p.Ser158fs) deletion Inborn genetic diseases [RCV001266270] ChrX:135998499 [GRCh38]
ChrX:135080658 [GRCh37]
ChrX:Xq26.3
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_001379110.1(SLC9A6):c.982G>A (p.Gly328Ser) single nucleotide variant Christianson syndrome [RCV001302383] ChrX:136013045 [GRCh38]
ChrX:135095204 [GRCh37]
ChrX:Xq26.3
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_001379110.1(SLC9A6):c.1711C>T (p.Leu571Phe) single nucleotide variant Christianson syndrome [RCV001325395] ChrX:136040125 [GRCh38]
ChrX:135122284 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001379110.1(SLC9A6):c.821T>C (p.Ile274Thr) single nucleotide variant Christianson syndrome [RCV001270393] ChrX:136010519 [GRCh38]
ChrX:135092678 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001379110.1(SLC9A6):c.1765G>A (p.Glu589Lys) single nucleotide variant Christianson syndrome [RCV001303447] ChrX:136040179 [GRCh38]
ChrX:135122338 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001379110.1(SLC9A6):c.1080+17A>G single nucleotide variant Christianson syndrome [RCV001334542] ChrX:136013454 [GRCh38]
ChrX:135095613 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001379110.1(SLC9A6):c.461G>A (p.Arg154Gln) single nucleotide variant Christianson syndrome [RCV001313713] ChrX:135998495 [GRCh38]
ChrX:135080654 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001379110.1(SLC9A6):c.1876G>A (p.Ala626Thr) single nucleotide variant Christianson syndrome [RCV001342341] ChrX:136044560 [GRCh38]
ChrX:135126719 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001379110.1(SLC9A6):c.-57+62C>T single nucleotide variant Christianson syndrome [RCV001344185] ChrX:135985539 [GRCh38]
ChrX:135067698 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001379110.1(SLC9A6):c.885+5C>T single nucleotide variant Christianson syndrome [RCV001298393] ChrX:136010588 [GRCh38]
ChrX:135092747 [GRCh37]
ChrX:Xq26.3
uncertain significance
NC_000023.10:g.(?_135067642)_(135106662_?)dup duplication Christianson syndrome [RCV001323426] ChrX:135067642..135106662 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001379110.1(SLC9A6):c.1420G>T (p.Gly474Cys) single nucleotide variant Christianson syndrome [RCV001338290] ChrX:136024443 [GRCh38]
ChrX:135106602 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001379110.1(SLC9A6):c.1768A>C (p.Asn590His) single nucleotide variant Christianson syndrome [RCV001313742] ChrX:136044452 [GRCh38]
ChrX:135126611 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001379110.1(SLC9A6):c.-57+50G>C single nucleotide variant Christianson syndrome [RCV001331523] ChrX:135985527 [GRCh38]
ChrX:135067686 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001379110.1(SLC9A6):c.2018A>G (p.Asn673Ser) single nucleotide variant Christianson syndrome [RCV001319777] ChrX:136044702 [GRCh38]
ChrX:135126861 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001379110.1(SLC9A6):c.506T>A (p.Ile169Asn) single nucleotide variant Christianson syndrome [RCV001270374] ChrX:135998540 [GRCh38]
ChrX:135080699 [GRCh37]
ChrX:Xq26.3
uncertain significance
NC_000023.10:g.(?_135080257)_(135292184_?)dup duplication Christianson syndrome [RCV001339208] ChrX:135080257..135292184 [GRCh37]
ChrX:Xq26.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11079 AgrOrtholog
COSMIC SLC9A6 COSMIC
Ensembl Genes ENSG00000198689 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000359729 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000359732 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000359735 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000486743 UniProtKB/TrEMBL
  ENSP00000487486 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000489827 UniProtKB/TrEMBL
  ENSP00000490330 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000490406 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000490527 UniProtKB/Swiss-Prot
  ENSP00000490648 UniProtKB/Swiss-Prot
  ENSP00000490731 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000501920 UniProtKB/TrEMBL
  ENSP00000502455 UniProtKB/TrEMBL
  ENSP00000502845 UniProtKB/TrEMBL
Ensembl Transcript ENST00000370695 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000370698 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000370701 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000627534 UniProtKB/TrEMBL
  ENST00000630721 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000636092 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000636347 UniProtKB/Swiss-Prot
  ENST00000637195 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000637234 UniProtKB/Swiss-Prot
  ENST00000637581 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000638078 UniProtKB/TrEMBL
  ENST00000674809 UniProtKB/TrEMBL
  ENST00000676043 UniProtKB/TrEMBL
  ENST00000678163 UniProtKB/TrEMBL
GTEx ENSG00000198689 GTEx
HGNC ID HGNC:11079 ENTREZGENE
Human Proteome Map SLC9A6 Human Proteome Map
InterPro Cation/H_exchanger UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cation/H_exchanger_CPA1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Na/H_exchanger_6 UniProtKB/Swiss-Prot
  NaH_exchanger UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NHE6_7_9 UniProtKB/TrEMBL
KEGG Report hsa:10479 UniProtKB/Swiss-Prot
NCBI Gene 10479 ENTREZGENE
OMIM 300231 OMIM
  300243 OMIM
PANTHER PTHR10110 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Na_H_Exchanger UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35935 PharmGKB
PRINTS NAHEXCHNGR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAHEXCHNGR6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs b_cpa1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0D9SFM4_HUMAN UniProtKB/TrEMBL
  A0A0D9SGH0_HUMAN UniProtKB/TrEMBL
  A0A1B0GTT2_HUMAN UniProtKB/TrEMBL
  A0A1B0GV11 ENTREZGENE, UniProtKB/TrEMBL
  A0A6Q8PFS7_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGY5_HUMAN UniProtKB/TrEMBL
  A0A7I2V2B0_HUMAN UniProtKB/TrEMBL
  Q92581 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A6NIQ9 UniProtKB/Swiss-Prot
  A8K160 UniProtKB/Swiss-Prot
  B4DU30 UniProtKB/Swiss-Prot
  B7ZAE0 UniProtKB/Swiss-Prot
  Q3ZCW7 UniProtKB/Swiss-Prot
  Q5JPP8 UniProtKB/Swiss-Prot
  Q5JPP9 UniProtKB/Swiss-Prot
  Q86VS0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-29 SLC9A6  solute carrier family 9 member A6  SLC9A6  solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6  Symbol and/or name change 5135510 APPROVED
2012-03-27 SLC9A6  solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6  SLC9A6  solute carrier family 9 (sodium/hydrogen exchanger), member 6  Symbol and/or name change 5135510 APPROVED
2011-08-17 SLC9A6  solute carrier family 9 (sodium/hydrogen exchanger), member 6  SLC9A6  solute carrier family 9 (sodium/hydrogen exchanger), member 6  Symbol and/or name change 5135510 APPROVED