SLC6A8 (solute carrier family 6 member 8) - Rat Genome Database

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Gene: SLC6A8 (solute carrier family 6 member 8) Homo sapiens
Analyze
Symbol: SLC6A8
Name: solute carrier family 6 member 8
RGD ID: 1342978
HGNC Page HGNC
Description: Predicted to have creatine:sodium symporter activity. Involved in creatine transmembrane transport. Predicted to localize to glutamatergic synapse and integral component of postsynaptic membrane. Implicated in creatine transporter deficiency and intellectual disability.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CCDS1; creatine transporter 1; creatine transporter SLC6A8; creatine transporter SLC6A8 variant D; CRT; CRTR; CT1; CTR5; MGC87396; sodium- and chloride-dependent creatine transporter 1; solute carrier family 6 (neurotransmitter transporter), member 8; solute carrier family 6 (neurotransmitter transporter, creatine), member 8
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: SLC6A10P   SLC6A10PB  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX153,687,926 - 153,696,588 (+)EnsemblGRCh38hg38GRCh38
GRCh38X153,687,926 - 153,696,593 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X152,953,381 - 152,962,048 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X152,606,586 - 152,615,234 (+)NCBINCBI36hg18NCBI36
Build 34X152,474,238 - 152,482,887NCBI
CeleraX153,187,436 - 153,195,732 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX141,612,842 - 141,619,133 (+)NCBIHuRef
CHM1_1X152,828,182 - 152,836,459 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
1,2,4-trimethylbenzene  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-methylcholine  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP,ISO)
ammonia  (EXP)
ammonium chloride  (ISO)
ampicillin  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
atenolol  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
butanal  (EXP)
C60 fullerene  (ISO)
captan  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
chromium(6+)  (ISO)
cisplatin  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
D-gluconic acid  (ISO)
diarsenic trioxide  (EXP)
diazinon  (ISO)
dicrotophos  (EXP)
dieldrin  (ISO)
diflunisal  (ISO)
dioxygen  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
entinostat  (EXP)
folic acid  (ISO)
folpet  (ISO)
graphite  (ISO)
hydrogen peroxide  (EXP)
L-methionine  (ISO)
lead diacetate  (ISO)
mercury dibromide  (EXP)
methamphetamine  (ISO)
methylmercury chloride  (EXP)
N-ethyl-N-nitrosourea  (ISO)
naphthalenes  (ISO)
orphenadrine  (ISO)
p-chloromercuribenzoic acid  (EXP)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
PCB138  (ISO)
pentanal  (EXP)
perfluorononanoic acid  (EXP)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
piroxicam  (EXP)
potassium chromate  (EXP)
propanal  (EXP)
quercetin  (EXP)
resorcinol  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
selenium atom  (EXP)
silicon dioxide  (ISO)
sodium arsenate  (EXP)
sodium dichromate  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
tetrachloromethane  (ISO)
toluene  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vitamin E  (EXP)
vorinostat  (EXP)
zidovudine  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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

Human Phenotype
Abnormal circulating creatine concentration  (IAGP)
Abnormality of metabolism/homeostasis  (IAGP)
Aganglionic megacolon  (IAGP)
Aggressive behavior  (IAGP)
Ataxia  (IAGP)
Athetosis  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autistic behavior  (IAGP)
Broad forehead  (IAGP)
Cachexia  (IAGP)
Chorea  (IAGP)
Constipation  (IAGP)
Delayed myelination  (IAGP)
Delayed speech and language development  (IAGP)
Dystonia  (IAGP)
Exotropia  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties in infancy  (IAGP)
Gait disturbance  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Hyperactivity  (IAGP)
Hypermetropia  (IAGP)
Hypertonia  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypotonia  (IAGP)
Ileus  (IAGP)
Impaired social interactions  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Joint hyperflexibility  (IAGP)
Joint hypermobility  (IAGP)
Long face  (IAGP)
Malar flattening  (IAGP)
Mandibular prognathia  (IAGP)
Mask-like facies  (IAGP)
Microcephaly  (IAGP)
Midface retrusion  (IAGP)
Motor delay  (IAGP)
Myopathic facies  (IAGP)
Narrow face  (IAGP)
Neonatal hypotonia  (IAGP)
Open mouth  (IAGP)
Pes cavus  (IAGP)
Poor hand-eye coordination  (IAGP)
Ptosis  (IAGP)
Reduced brain creatine level by MRS  (IAGP)
Redundant skin  (IAGP)
Schizophrenia  (IAGP)
Seizure  (IAGP)
Self-mutilation  (IAGP)
Short stature  (IAGP)
Spasticity  (IAGP)
Stereotypy  (IAGP)
Tall stature  (IAGP)
Underfolded superior helices  (IAGP)
Vomiting  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:7622069   PMID:7774949   PMID:7945388   PMID:7953292   PMID:8661037   PMID:8661155   PMID:10893433   PMID:11063724   PMID:11326334   PMID:12210795   PMID:12219031   PMID:12477932  
PMID:15154114   PMID:15338463   PMID:15489334   PMID:16036218   PMID:16049011   PMID:16086185   PMID:16738945   PMID:17101918   PMID:17603797   PMID:18350323   PMID:18443316   PMID:18461508  
PMID:18515020   PMID:19188083   PMID:19319661   PMID:19570237   PMID:19879361   PMID:20301334   PMID:20301745   PMID:20528887   PMID:20602486   PMID:20846889   PMID:21140503   PMID:21190923  
PMID:21267006   PMID:21556832   PMID:21873635   PMID:22281021   PMID:22644605   PMID:23578822   PMID:23644449   PMID:23660394   PMID:24137762   PMID:24140398   PMID:24144841   PMID:24561156  
PMID:24597975   PMID:24722188   PMID:24789340   PMID:24842606   PMID:24962355   PMID:25044748   PMID:25531216   PMID:25531585   PMID:25861866   PMID:26186194   PMID:26542286   PMID:26638075  
PMID:28049948   PMID:28055022   PMID:28298427   PMID:28514442   PMID:29478817   PMID:29568061   PMID:30194290   PMID:30352685   PMID:30400883   PMID:30639242   PMID:31056421   PMID:31678930  
PMID:31784090   PMID:32124083   PMID:32207963   PMID:32277128   PMID:32434645   PMID:32694731   PMID:32788342   PMID:33164824  


Genomics

Comparative Map Data
SLC6A8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX153,687,926 - 153,696,588 (+)EnsemblGRCh38hg38GRCh38
GRCh38X153,687,926 - 153,696,593 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X152,953,381 - 152,962,048 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X152,606,586 - 152,615,234 (+)NCBINCBI36hg18NCBI36
Build 34X152,474,238 - 152,482,887NCBI
CeleraX153,187,436 - 153,195,732 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX141,612,842 - 141,619,133 (+)NCBIHuRef
CHM1_1X152,828,182 - 152,836,459 (+)NCBICHM1_1
Slc6a8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X72,716,739 - 72,726,108 (+)NCBIGRCm39mm39
GRCm39 EnsemblX72,716,756 - 72,726,108 (+)Ensembl
GRCm38X73,673,133 - 73,682,502 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX73,673,150 - 73,682,502 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X70,918,472 - 70,927,841 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X69,925,870 - 69,935,222 (+)NCBImm8
CeleraX64,926,949 - 64,936,317 (+)NCBICelera
Cytogenetic MapXA7.3NCBI
cM MapX37.38NCBI
Slc6a8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X151,384,675 - 151,393,979 (+)NCBI
Rnor_6.0 EnsemblX157,129,987 - 157,139,291 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X157,129,987 - 157,139,321 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01152,879,305 - 152,888,640 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X159,570,789 - 159,580,093 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X159,645,625 - 159,654,519 (+)NCBI
Celera1136,495,566 - 136,504,870 (-)NCBICelera
Cytogenetic MapXq37NCBI
Slc6a8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_004955580419,696 - 426,727 (+)NCBIChiLan1.0ChiLan1.0
LOC100975352
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X153,126,415 - 153,132,917 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX153,126,415 - 153,133,189 (+)Ensemblpanpan1.1panPan2
SLC6A8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X121,505,117 - 121,511,674 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX121,505,141 - 121,510,347 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX106,832,742 - 106,841,046 (+)NCBI
ROS_Cfam_1.0X124,644,861 - 124,653,192 (+)NCBI
UMICH_Zoey_3.1X120,414,322 - 120,422,627 (+)NCBI
UNSW_CanFamBas_1.0X122,929,312 - 122,937,588 (+)NCBI
UU_Cfam_GSD_1.0X122,691,440 - 122,699,746 (+)NCBI
Slc6a8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X118,833,463 - 118,840,527 (+)NCBI
SpeTri2.0NW_004936809571,234 - 578,298 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC6A8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX124,294,856 - 124,453,249 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X124,435,282 - 124,452,182 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X142,008,693 - 142,016,715 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SLC6A8
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X128,116,490 - 128,124,899 (+)NCBI
ChlSab1.1 EnsemblX128,116,944 - 128,124,918 (+)Ensembl
Slc6a8
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624946389,806 - 396,653 (+)NCBI

Position Markers
RH18202  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X152,961,813 - 152,961,992UniSTSGRCh37
Build 36X152,615,007 - 152,615,186RGDNCBI36
CeleraX153,195,497 - 153,195,676RGD
Cytogenetic MapXq28UniSTS
HuRefX141,618,898 - 141,619,077UniSTS
GeneMap99-GB4 RH MapX350.52UniSTS
D16S3203  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq28UniSTS
TNG Radiation Hybrid Map1618364.0UniSTS
GDB:511269  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq28UniSTS
RH71204  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq28UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR877hsa-miR-877-3pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:5639
Count of miRNA genes:1232
Interacting mature miRNAs:1608
Transcripts:ENST00000253122, ENST00000413787, ENST00000429147, ENST00000430077, ENST00000442457, ENST00000457723, ENST00000466243, ENST00000467402, ENST00000476466, ENST00000485324
Prediction methods:Microtar, Miranda, Pita, Pita,Microtar, Pita,Targetscan, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1
Medium 2283 2576 986 239 727 78 4318 2139 3702 408 1374 897 175 1 1011 2786 5 2
Low 153 407 685 333 1066 335 39 57 32 10 86 714 193 2 1
Below cutoff 2 4 55 52 126 52 1 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001142805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001142806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC081558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE207407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA424985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CX788315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU280316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JF739305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC800563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ534942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ534943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ534944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ534945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L31409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S74039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U17986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U36341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U52111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z66539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000253122   ⟹   ENSP00000253122
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,687,926 - 153,696,588 (+)Ensembl
RefSeq Acc Id: ENST00000413787   ⟹   ENSP00000400463
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,693,054 - 153,694,576 (+)Ensembl
RefSeq Acc Id: ENST00000429147   ⟹   ENSP00000404046
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,691,461 - 153,692,215 (+)Ensembl
RefSeq Acc Id: ENST00000430077   ⟹   ENSP00000403041
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,689,467 - 153,695,327 (+)Ensembl
RefSeq Acc Id: ENST00000442457   ⟹   ENSP00000403682
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,693,267 - 153,694,420 (+)Ensembl
RefSeq Acc Id: ENST00000457723   ⟹   ENSP00000394742
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,693,462 - 153,694,164 (+)Ensembl
RefSeq Acc Id: ENST00000466243
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,691,118 - 153,692,082 (+)Ensembl
RefSeq Acc Id: ENST00000467402
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,691,363 - 153,693,972 (+)Ensembl
RefSeq Acc Id: ENST00000476466
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,688,723 - 153,690,881 (+)Ensembl
RefSeq Acc Id: ENST00000485324
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,692,231 - 153,695,400 (+)Ensembl
RefSeq Acc Id: ENST00000675713
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,690,359 - 153,692,792 (+)Ensembl
RefSeq Acc Id: NM_001142805   ⟹   NP_001136277
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,687,926 - 153,696,588 (+)NCBI
GRCh37X152,953,752 - 152,962,048 (+)ENTREZGENE
HuRefX141,612,842 - 141,619,133 (+)ENTREZGENE
CHM1_1X152,828,182 - 152,836,459 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001142806   ⟹   NP_001136278
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,689,511 - 153,696,593 (+)NCBI
GRCh37X152,953,752 - 152,962,048 (+)ENTREZGENE
HuRefX141,612,842 - 141,619,133 (+)ENTREZGENE
CHM1_1X152,829,377 - 152,836,459 (+)NCBI
Sequence:
RefSeq Acc Id: NM_005629   ⟹   NP_005620
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,687,926 - 153,696,588 (+)NCBI
GRCh37X152,953,752 - 152,962,048 (+)NCBI
Build 36X152,606,586 - 152,615,234 (+)NCBI Archive
HuRefX141,612,842 - 141,619,133 (+)ENTREZGENE
CHM1_1X152,828,182 - 152,836,459 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005620   ⟸   NM_005629
- Peptide Label: isoform 1
- UniProtKB: P48029 (UniProtKB/Swiss-Prot),   X5D9C4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001136277   ⟸   NM_001142805
- Peptide Label: isoform 2
- UniProtKB: P48029 (UniProtKB/Swiss-Prot),   Q59EV7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001136278   ⟸   NM_001142806
- Peptide Label: isoform 3
- UniProtKB: P48029 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000253122   ⟸   ENST00000253122
RefSeq Acc Id: ENSP00000400463   ⟸   ENST00000413787
RefSeq Acc Id: ENSP00000404046   ⟸   ENST00000429147
RefSeq Acc Id: ENSP00000403682   ⟸   ENST00000442457
RefSeq Acc Id: ENSP00000394742   ⟸   ENST00000457723
RefSeq Acc Id: ENSP00000403041   ⟸   ENST00000430077

Promoters
RGD ID:6809153
Promoter ID:HG_KWN:68546
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000253122,   NM_001142805,   OTTHUMT00000061005,   OTTHUMT00000337664,   OTTHUMT00000337665,   OTTHUMT00000337667,   OTTHUMT00000337668,   OTTHUMT00000337669,   OTTHUMT00000337670,   OTTHUMT00000337671
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,605,051 - 152,606,717 (-)MPROMDB
RGD ID:6809154
Promoter ID:HG_KWN:68547
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_001142806,   OTTHUMT00000061006,   OTTHUMT00000107875,   OTTHUMT00000337666
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,607,436 - 152,607,936 (-)MPROMDB
RGD ID:6809271
Promoter ID:HG_KWN:68550
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   NB4
Transcripts:ENST00000328897,   OTTHUMT00000061002,   OTTHUMT00000061004,   OTTHUMT00000061009,   OTTHUMT00000061010,   UC010NUJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,610,401 - 152,612,027 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005629.4(SLC6A8):c.568_569TG[1] (p.Ala191fs) microsatellite not provided [RCV000520280] ChrX:153691477..153691478 [GRCh38]
ChrX:152956932..152956933 [GRCh37]
ChrX:Xq28
pathogenic
NM_005629.4(SLC6A8):c.1141+6G>A single nucleotide variant Creatine transporter deficiency [RCV000557668]|not specified [RCV000599739] ChrX:153693592 [GRCh38]
ChrX:152959047 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_005629.4(SLC6A8):c.1696C>G (p.Leu566Val) single nucleotide variant not provided [RCV000522235] ChrX:153694818 [GRCh38]
ChrX:152960273 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1025T>C (p.Ile342Thr) single nucleotide variant Creatine transporter deficiency [RCV000866741]|not specified [RCV000517073] ChrX:153693470 [GRCh38]
ChrX:152958925 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_005629.4(SLC6A8):c.980T>C (p.Leu327Pro) single nucleotide variant not provided [RCV000518846] ChrX:153693330 [GRCh38]
ChrX:152958785 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1171C>T (p.Arg391Trp) single nucleotide variant Creatine transporter deficiency [RCV000551024]|Inborn genetic diseases [RCV000623839] ChrX:153693934 [GRCh38]
ChrX:152959389 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance
NM_005629.4(SLC6A8):c.318_320CTT[1] (p.Phe107del) microsatellite Creatine transporter deficiency [RCV000020635]|Inborn genetic diseases [RCV000623073]|not provided [RCV000479265] ChrX:153690428..153690430 [GRCh38]
ChrX:152955883..152955885 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_005629.4(SLC6A8):c.544G>A (p.Val182Met) single nucleotide variant Creatine transporter deficiency [RCV001088436]|not provided [RCV000713356]|not specified [RCV000613142] ChrX:153691453 [GRCh38]
ChrX:152956908 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005629.4(SLC6A8):c.70G>C (p.Ala24Pro) single nucleotide variant Creatine transporter deficiency [RCV000555105] ChrX:153688644 [GRCh38]
ChrX:152954099 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1184T>C (p.Leu395Pro) single nucleotide variant Creatine transporter deficiency [RCV000559057] ChrX:153693947 [GRCh38]
ChrX:152959402 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1416G>A (p.Leu472=) single nucleotide variant not specified [RCV000602901] ChrX:153694367 [GRCh38]
ChrX:152959822 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.557G>A (p.Arg186His) single nucleotide variant Creatine transporter deficiency [RCV000919928]|not specified [RCV000602976] ChrX:153691466 [GRCh38]
ChrX:152956921 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_005629.4(SLC6A8):c.1540C>T (p.Arg514Ter) single nucleotide variant Creatine transporter deficiency [RCV000012462]|Inborn genetic diseases [RCV000623751]|Intellectual disability [RCV001257720]|not provided [RCV000713354] ChrX:153694577 [GRCh38]
ChrX:152960032 [GRCh37]
ChrX:Xq28
pathogenic
NM_005629.4(SLC6A8):c.1141G>C (p.Gly381Arg) single nucleotide variant Creatine transporter deficiency [RCV000012463] ChrX:153693586 [GRCh38]
ChrX:152959041 [GRCh37]
ChrX:Xq28
pathogenic
NM_005629.4(SLC6A8):c.1216_1218TTC[2] (p.Phe408del) microsatellite Creatine transporter deficiency [RCV000012464]|not provided [RCV000483506] ChrX:153693979..153693981 [GRCh38]
ChrX:152959434..152959436 [GRCh37]
ChrX:Xq28
pathogenic
NM_005629.4(SLC6A8):c.950dup (p.Tyr317Ter) duplication Creatine transporter deficiency [RCV000012465] ChrX:153693299..153693300 [GRCh38]
ChrX:152958754..152958755 [GRCh37]
ChrX:Xq28
pathogenic
NM_005629.4(SLC6A8):c.259G>A (p.Gly87Arg) single nucleotide variant Creatine transporter deficiency [RCV000012466] ChrX:153688833 [GRCh38]
ChrX:152954288 [GRCh37]
ChrX:Xq28
pathogenic
NM_005629.4(SLC6A8):c.263-2A>G single nucleotide variant Creatine transporter deficiency [RCV000012467] ChrX:153690373 [GRCh38]
ChrX:152955828 [GRCh37]
ChrX:Xq28
pathogenic
NM_005629.4(SLC6A8):c.1011C>G (p.Cys337Trp) single nucleotide variant Creatine transporter deficiency [RCV000012468] ChrX:153693361 [GRCh38]
ChrX:152958816 [GRCh37]
ChrX:Xq28
pathogenic
NM_005629.4(SLC6A8):c.395G>T (p.Gly132Val) single nucleotide variant Creatine transporter deficiency [RCV000012469] ChrX:153691304 [GRCh38]
ChrX:152956759 [GRCh37]
ChrX:Xq28
pathogenic
NM_005629.4(SLC6A8):c.1473C>G (p.Cys491Trp) single nucleotide variant Creatine transporter deficiency [RCV000012470] ChrX:153694424 [GRCh38]
ChrX:152959879 [GRCh37]
ChrX:Xq28
pathogenic
SLC6A8, 3-BP DEL, 1006AAC deletion Creatine deficiency, X-linked [RCV000012471] ChrX:Xq28 pathogenic
NM_005629.4(SLC6A8):c.263-1G>A single nucleotide variant not provided [RCV000521906] ChrX:153690374 [GRCh38]
ChrX:152955829 [GRCh37]
ChrX:Xq28
pathogenic
NM_005629.4(SLC6A8):c.1798G>A (p.Gly600Ser) single nucleotide variant Creatine transporter deficiency [RCV000549221] ChrX:153695104 [GRCh38]
ChrX:152960559 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1254+1G>A single nucleotide variant not provided [RCV000520778] ChrX:153694018 [GRCh38]
ChrX:152959473 [GRCh37]
ChrX:Xq28
pathogenic
NM_005629.4(SLC6A8):c.1393-8T>G single nucleotide variant not provided [RCV000522899] ChrX:153694336 [GRCh38]
ChrX:152959791 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.746_747GT[1] (p.Val250fs) microsatellite not provided [RCV000521174] ChrX:153692075..153692076 [GRCh38]
ChrX:152957530..152957531 [GRCh37]
ChrX:Xq28
pathogenic
NM_005629.4(SLC6A8):c.1631C>T (p.Pro544Leu) single nucleotide variant Creatine transporter deficiency [RCV000055918] ChrX:153694753 [GRCh38]
ChrX:152960208 [GRCh37]
ChrX:Xq28
pathogenic
NM_005629.4(SLC6A8):c.1661C>T (p.Pro554Leu) single nucleotide variant Creatine transporter deficiency [RCV000055919] ChrX:153694783 [GRCh38]
ChrX:152960238 [GRCh37]
ChrX:Xq28
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 Xq28(chrX:150036146-156022206)x3 copy number gain See cases [RCV000050946] ChrX:150036146..156022206 [GRCh38]
ChrX:149298619..155251871 [GRCh37]
ChrX:148955035..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq28(chrX:149989929-156022206)x3 copy number gain See cases [RCV000050657] ChrX:149989929..156022206 [GRCh38]
ChrX:149158160..155251871 [GRCh37]
ChrX:148908818..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 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 Xq27.3-28(chrX:145879711-156022206)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] ChrX:145879711..156022206 [GRCh38]
ChrX:146715565..155251871 [GRCh37]
ChrX:144768921..154905065 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:153296806-155699618)x1 copy number loss See cases [RCV000051750] ChrX:153296806..155699618 [GRCh38]
ChrX:152568327..154929279 [GRCh37]
ChrX:152215458..154582473 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153667032-153817949)x0 copy number loss See cases [RCV000051751] ChrX:153667032..153817949 [GRCh38]
ChrX:152585681..152736598 [NCBI36]
ChrX:Xq28
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 Xq26.3-28(chrX:136956500-156020993)x1 copy number loss See cases [RCV000051732] ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] ChrX:140445228..155998166 [GRCh38]
ChrX:139527393..155227831 [GRCh37]
ChrX:139355059..154881025 [NCBI36]
ChrX:Xq27.1-28
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 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 Xq28(chrX:152932818-156022206)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|See cases [RCV000052490] ChrX:152932818..156022206 [GRCh38]
ChrX:152173071..155251871 [GRCh37]
ChrX:151852018..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153395425-155687381)x2 copy number gain See cases [RCV000052491] ChrX:153395425..155687381 [GRCh38]
ChrX:152314077..154570236 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153504314-154144797)x2 copy number gain See cases [RCV000052492] ChrX:153504314..154144797 [GRCh38]
ChrX:152422966..153063464 [NCBI36]
ChrX:Xq28
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 Xq27.1-28(chrX:140226495-155687381)x2 copy number gain See cases [RCV000052471] ChrX:140226495..155687381 [GRCh38]
ChrX:139308651..154917042 [GRCh37]
ChrX:139136317..154570236 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2 copy number gain See cases [RCV000052474] ChrX:140445228..154604471 [GRCh38]
ChrX:139527393..153832724 [GRCh37]
ChrX:139355059..153485918 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 copy number gain See cases [RCV000052475] ChrX:141160282..155699618 [GRCh38]
ChrX:140254480..154929279 [GRCh37]
ChrX:140082146..154582473 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:153585420-154427385)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|See cases [RCV000052521] ChrX:153585420..154427385 [GRCh38]
ChrX:152864376..153655730 [GRCh37]
ChrX:152504072..153308924 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153590730-154380801)x2 copy number gain See cases [RCV000052522] ChrX:153590730..154380801 [GRCh38]
ChrX:152864376..153609161 [GRCh37]
ChrX:152509382..153262355 [NCBI36]
ChrX:Xq28
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
NM_005629.4(SLC6A8):c.-5A>G single nucleotide variant Creatine deficiency syndrome 1 [RCV001276522]|Creatine transporter deficiency [RCV000601677]|History of neurodevelopmental disorder [RCV000715237]|not provided [RCV000223997]|not specified [RCV000118393] ChrX:153688570 [GRCh38]
ChrX:152954025 [GRCh37]
ChrX:Xq28
benign
NM_005629.3:c.1-5A>G single nucleotide variant AllHighlyPenetrant [RCV000118394]|not specified [RCV000118394] ChrX:153688570 [GRCh38]
ChrX:152954025 [GRCh37]
ChrX:Xq28
benign
NM_005629.4(SLC6A8):c.829_843dup (p.Val277_Leu281dup) duplication Creatine transporter deficiency [RCV000999631] ChrX:153693086..153693087 [GRCh38]
ChrX:152958541..152958542 [GRCh37]
ChrX:Xq28
not provided
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1 copy number loss See cases [RCV000133818] ChrX:139333024..155978689 [GRCh38]
ChrX:138415183..155208354 [GRCh37]
ChrX:138242849..154861548 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:144627217-155434735)x3 copy number gain See cases [RCV000133725] ChrX:144627217..155434735 [GRCh38]
ChrX:146715565..154664396 [GRCh37]
ChrX:143516380..154317590 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xq28(chrX:153688340-153696609)x2 copy number gain See cases [RCV000133980] ChrX:153688340..153696609 [GRCh38]
ChrX:152606989..152615258 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq28(chrX:153688340-153696609)x3 copy number gain See cases [RCV000133981] ChrX:153688340..153696609 [GRCh38]
ChrX:152606989..152615258 [NCBI36]
ChrX:Xq28
uncertain significance
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 Xq28(chrX:153296806-154604471)x2 copy number gain See cases [RCV000135451] ChrX:153296806..154604471 [GRCh38]
ChrX:152568327..153832724 [GRCh37]
ChrX:152215458..153485918 [NCBI36]
ChrX:Xq28
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 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 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 Xq28(chrX:153688340-153704118)x2 copy number gain See cases [RCV000135947] ChrX:153688340..153704118 [GRCh38]
ChrX:152606989..152622767 [NCBI36]
ChrX:Xq28
pathogenic|uncertain significance
GRCh38/hg38 Xq27.1-28(chrX:140783390-155611114)x2 copy number gain See cases [RCV000135881] ChrX:140783390..155611114 [GRCh38]
ChrX:139865555..154785891 [GRCh37]
ChrX:139693221..154493969 [NCBI36]
ChrX:Xq27.1-28
pathogenic
NM_005629.4(SLC6A8):c.1649C>G (p.Thr550Ser) single nucleotide variant Creatine transporter deficiency [RCV001083541]|History of neurodevelopmental disorder [RCV000719166]|not provided [RCV000476830]|not specified [RCV000202681] ChrX:153694771 [GRCh38]
ChrX:152960226 [GRCh37]
ChrX:Xq28
benign|likely benign
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 Xq27.2-28(chrX:141650284-156022206)x1 copy number loss See cases [RCV000136912] ChrX:141650284..156022206 [GRCh38]
ChrX:140738414..155251871 [GRCh37]
ChrX:140566080..154905065 [NCBI36]
ChrX:Xq27.2-28
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 Xq28(chrX:153322656-155522304)x2 copy number gain See cases [RCV000136716] ChrX:153322656..155522304 [GRCh38]
ChrX:152864376..154751965 [GRCh37]
ChrX:152241308..154405159 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:151750863-155522304)x1 copy number loss See cases [RCV000136718] ChrX:151750863..155522304 [GRCh38]
ChrX:150919335..154751965 [GRCh37]
ChrX:150669991..154405159 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153276277-156003242)x3 copy number gain See cases [RCV000137498] ChrX:153276277..156003242 [GRCh38]
ChrX:152465185..155232907 [GRCh37]
ChrX:152118379..154886101 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153667032-154394658)x2 copy number gain See cases [RCV000137536] ChrX:153667032..154394658 [GRCh38]
ChrX:152585681..153276194 [NCBI36]
ChrX:Xq28
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 Xq26.3-28(chrX:137118983-156003242)x1 copy number loss See cases [RCV000137257] ChrX:137118983..156003242 [GRCh38]
ChrX:136201142..155232907 [GRCh37]
ChrX:136028808..154886101 [NCBI36]
ChrX:Xq26.3-28
pathogenic|uncertain significance
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 Xq28(chrX:153689819-153690443)x2 copy number gain See cases [RCV000137241] ChrX:153689819..153690443 [GRCh38]
ChrX:152608468..152609092 [NCBI36]
ChrX:Xq28
benign
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 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 Xq27.3-28(chrX:143553831-156003229)x1 copy number loss See cases [RCV000138679] ChrX:143553831..156003229 [GRCh38]
ChrX:142641674..155232894 [GRCh37]
ChrX:142469340..154886088 [NCBI36]
ChrX:Xq27.3-28
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 Xq28(chrX:153690158-153697468)x2 copy number gain See cases [RCV000138736] ChrX:153690158..153697468 [GRCh38]
ChrX:152608807..152616117 [NCBI36]
ChrX:Xq28
likely benign
GRCh38/hg38 Xq28(chrX:153688786-153697345)x1 copy number loss See cases [RCV000138790] ChrX:153688786..153697345 [GRCh38]
ChrX:152607435..152615994 [NCBI36]
ChrX:Xq28
likely pathogenic|likely benign
GRCh38/hg38 Xq28(chrX:153688786-153697468)x3 copy number gain See cases [RCV000138518] ChrX:153688786..153697468 [GRCh38]
ChrX:152607435..152616117 [NCBI36]
ChrX:Xq28
likely benign
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 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 Xq21.1-28(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 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 Xq28(chrX:153689467-153697345)x2 copy number gain See cases [RCV000139286] ChrX:153689467..153697345 [GRCh38]
ChrX:152608116..152615994 [NCBI36]
ChrX:Xq28
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 Xq28(chrX:153690384-153697468)x2 copy number gain See cases [RCV000138993] ChrX:153690384..153697468 [GRCh38]
ChrX:152609033..152616117 [NCBI36]
ChrX:Xq28
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 Xq28(chrX:153688340-153697340)x2 copy number gain See cases [RCV000139929] ChrX:153688340..153697340 [GRCh38]
ChrX:152606989..152615989 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq28(chrX:153451351-154230630)x2 copy number gain See cases [RCV000140532] ChrX:153451351..154230630 [GRCh38]
ChrX:152716809..153496099 [GRCh37]
ChrX:152370003..153149293 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1 copy number loss See cases [RCV000139724] ChrX:139530928..156003229 [GRCh38]
ChrX:138613087..155232894 [GRCh37]
ChrX:138440753..154886088 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 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 Xq28(chrX:153689819-153691535)x3 copy number gain See cases [RCV000141456] ChrX:153689819..153691535 [GRCh38]
ChrX:152608468..152610184 [NCBI36]
ChrX:Xq28
benign
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 Xq28(chrX:153392250-153934599)x3 copy number gain See cases [RCV000142157] ChrX:153392250..153934599 [GRCh38]
ChrX:152657708..153200052 [GRCh37]
ChrX:152310902..152853246 [NCBI36]
ChrX:Xq28
uncertain significance
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 Xq28(chrX:153688786-153697345)x0 copy number loss See cases [RCV000142903] ChrX:153688786..153697345 [GRCh38]
ChrX:152607435..152615994 [NCBI36]
ChrX:Xq28
likely pathogenic|likely benign
GRCh38/hg38 Xq28(chrX:153688786-153697468)x2 copy number gain See cases [RCV000142845] ChrX:153688786..153697468 [GRCh38]
ChrX:152607435..152616117 [NCBI36]
ChrX:Xq28
likely benign
GRCh38/hg38 Xq28(chrX:148951460-155434653)x2 copy number gain See cases [RCV000143002] ChrX:148951460..155434653 [GRCh38]
ChrX:148956425..154664314 [GRCh37]
ChrX:147840690..154317508 [NCBI36]
ChrX:Xq28
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
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_005629.4(SLC6A8):c.1437C>T (p.Ser479=) single nucleotide variant Creatine transporter deficiency [RCV001083927]|History of neurodevelopmental disorder [RCV000716873]|not provided [RCV000461931]|not specified [RCV000193399] ChrX:153694388 [GRCh38]
ChrX:152959843 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity
NM_005629.4(SLC6A8):c.1768-3C>T single nucleotide variant Creatine transporter deficiency [RCV001082123]|History of neurodevelopmental disorder [RCV000717693]|not provided [RCV000233099]|not specified [RCV000194462] ChrX:153695071 [GRCh38]
ChrX:152960526 [GRCh37]
ChrX:Xq28
benign|likely benign
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_005629.4(SLC6A8):c.87G>A (p.Gly29=) single nucleotide variant Creatine transporter deficiency [RCV000539293]|not specified [RCV000193555] ChrX:153688661 [GRCh38]
ChrX:152954116 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_005629.4(SLC6A8):c.1890G>C (p.Val630=) single nucleotide variant Creatine transporter deficiency [RCV001081364]|not provided [RCV000659183]|not specified [RCV000192485] ChrX:153695196 [GRCh38]
ChrX:152960651 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005629.4(SLC6A8):c.1627G>A (p.Glu543Lys) single nucleotide variant Creatine transporter deficiency [RCV001045442]|not specified [RCV000193056] ChrX:153694749 [GRCh38]
ChrX:152960204 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1496-4G>T single nucleotide variant not specified [RCV000194433] ChrX:153694529 [GRCh38]
ChrX:152959984 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1601T>C (p.Ile534Thr) single nucleotide variant Creatine transporter deficiency [RCV000709775]|not specified [RCV000192415] ChrX:153694723 [GRCh38]
ChrX:152960178 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance|not provided
NM_005629.4(SLC6A8):c.974C>G (p.Thr325Arg) single nucleotide variant not specified [RCV000194591] ChrX:153693324 [GRCh38]
ChrX:152958779 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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_005629.4(SLC6A8):c.262+6T>C single nucleotide variant not provided [RCV000224381] ChrX:153688842 [GRCh38]
ChrX:152954297 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1496-8C>T single nucleotide variant Creatine transporter deficiency [RCV001079413]|not provided [RCV000224678]|not specified [RCV000614840] ChrX:153694525 [GRCh38]
ChrX:152959980 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_005629.4(SLC6A8):c.1494C>T (p.Tyr498=) single nucleotide variant Creatine transporter deficiency [RCV001081986]|History of neurodevelopmental disorder [RCV000717236]|not provided [RCV000230375]|not specified [RCV000239091] ChrX:153694445 [GRCh38]
ChrX:152959900 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity
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 Xq28(chrX:152912867-153236360)x2 copy number gain See cases [RCV000239969] ChrX:152912867..153236360 [GRCh37]
ChrX:Xq28
uncertain significance
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 Xq28(chrX:152925866-153032459)x2 copy number gain See cases [RCV000240069] ChrX:152925866..153032459 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.11:g.153696346_153701690del deletion Chromosome Xq28 deletion syndrome [RCV000059315] ChrX:153696346..153701690 [GRCh38]
ChrX:Xq28
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 Xq27.3-28(chrX:142174780-155250222)x2 copy number gain See cases [RCV000240530] ChrX:142174780..155250222 [GRCh37]
ChrX:Xq27.3-28
pathogenic
NM_005629.4(SLC6A8):c.1000_1002AAC[2] (p.Asn336del) microsatellite Creatine transporter deficiency [RCV000012471]|not provided [RCV000255812] ChrX:153693349..153693351 [GRCh38]
ChrX:152958804..152958806 [GRCh37]
ChrX:Xq28
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
NM_005629.4(SLC6A8):c.1516G>A (p.Asp506Asn) single nucleotide variant Creatine transporter deficiency [RCV000863568]|History of neurodevelopmental disorder [RCV000719831]|not specified [RCV000377014] ChrX:153694553 [GRCh38]
ChrX:152960008 [GRCh37]
ChrX:Xq28
benign
NM_005629.4(SLC6A8):c.1290_1309del (p.Asp431fs) deletion not provided [RCV000331831] ChrX:153694155..153694174 [GRCh38]
ChrX:152959610..152959629 [GRCh37]
ChrX:Xq28
pathogenic
NM_005629.4(SLC6A8):c.1072_1095del (p.Val358_Phe365del) deletion not provided [RCV000370906] ChrX:153693511..153693534 [GRCh38]
ChrX:152958966..152958989 [GRCh37]
ChrX:Xq28
pathogenic
NM_005629.4(SLC6A8):c.1422_1434delinsTTGACTACTACTACAG (p.Tyr475_Ala478delinsTer) indel not provided [RCV000403956] ChrX:153694373..153694385 [GRCh38]
ChrX:152959828..152959840 [GRCh37]
ChrX:Xq28
pathogenic
NM_005629.4(SLC6A8):c.1255-2A>G single nucleotide variant not provided [RCV000260337] ChrX:153694128 [GRCh38]
ChrX:152959583 [GRCh37]
ChrX:Xq28
pathogenic
NM_005629.4(SLC6A8):c.1869C>G (p.Ser623=) single nucleotide variant Creatine deficiency syndrome 1 [RCV001279582] ChrX:153695175 [GRCh38]
ChrX:152960630 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1172G>A (p.Arg391Gln) single nucleotide variant Creatine transporter deficiency [RCV001300034]|not provided [RCV000523929] ChrX:153693935 [GRCh38]
ChrX:152959390 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1262G>A (p.Gly421Asp) single nucleotide variant not provided [RCV000490037] ChrX:153694137 [GRCh38]
ChrX:152959592 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_005629.4(SLC6A8):c.1901T>A (p.Val634Asp) single nucleotide variant not provided [RCV000521837] ChrX:153695207 [GRCh38]
ChrX:152960662 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1714G>A (p.Val572Met) single nucleotide variant not provided [RCV000522229] ChrX:153694836 [GRCh38]
ChrX:152960291 [GRCh37]
ChrX:Xq28
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005629.4(SLC6A8):c.283G>A (p.Val95Ile) single nucleotide variant Creatine transporter deficiency [RCV000640932]|not provided [RCV000522419] ChrX:153690395 [GRCh38]
ChrX:152955850 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_005629.4(SLC6A8):c.267G>A (p.Val89=) single nucleotide variant not specified [RCV000604757] ChrX:153690379 [GRCh38]
ChrX:152955834 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.354C>T (p.Ala118=) single nucleotide variant Creatine transporter deficiency [RCV000867843]|not specified [RCV000605861] ChrX:153690466 [GRCh38]
ChrX:152955921 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1392+17dup duplication not specified [RCV000600795] ChrX:153694278..153694279 [GRCh38]
ChrX:152959733..152959734 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1404C>T (p.Tyr468=) single nucleotide variant not specified [RCV000606756] ChrX:153694355 [GRCh38]
ChrX:152959810 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1578C>A (p.Phe526Leu) single nucleotide variant not specified [RCV000522984] ChrX:153694615 [GRCh38]
ChrX:152960070 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1767+8_1767+11dup duplication Creatine transporter deficiency [RCV000867333]|not specified [RCV000602884] ChrX:153694895..153694896 [GRCh38]
ChrX:152960350..152960351 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_005629.4(SLC6A8):c.1411C>T (p.Gln471Ter) single nucleotide variant not provided [RCV000523776] ChrX:153694362 [GRCh38]
ChrX:152959817 [GRCh37]
ChrX:Xq28
pathogenic
NM_005629.4(SLC6A8):c.1290C>T (p.Leu430=) single nucleotide variant Creatine transporter deficiency [RCV000640941]|not specified [RCV000600208] ChrX:153694165 [GRCh38]
ChrX:152959620 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.53_137delinsCCGTGT (p.Lys18fs) indel Creatine transporter deficiency [RCV000640934] ChrX:153688627..153688711 [GRCh38]
ChrX:152954082..152954166 [GRCh37]
ChrX:Xq28
pathogenic
NM_005629.4(SLC6A8):c.1284C>T (p.Gly428=) single nucleotide variant not provided [RCV000640935] ChrX:153694159 [GRCh38]
ChrX:152959614 [GRCh37]
ChrX:Xq28
likely benign
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_005629.4(SLC6A8):c.1218C>T (p.Phe406=) single nucleotide variant not provided [RCV000535252] ChrX:153693981 [GRCh38]
ChrX:152959436 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1319G>A (p.Arg440His) single nucleotide variant not provided [RCV000993015]|not specified [RCV000412888] ChrX:153694194 [GRCh38]
ChrX:152959649 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1861C>A (p.Pro621Thr) single nucleotide variant not specified [RCV000413058] ChrX:153695167 [GRCh38]
ChrX:152960622 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.495C>T (p.Thr165=) single nucleotide variant Creatine transporter deficiency [RCV000525352] ChrX:153691404 [GRCh38]
ChrX:152956859 [GRCh37]
ChrX:Xq28
benign
NM_005629.4(SLC6A8):c.1861C>T (p.Pro621Ser) single nucleotide variant not specified [RCV000414187] ChrX:153695167 [GRCh38]
ChrX:152960622 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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 Xq28(chrX:152228560-154930047)x2 copy number gain See cases [RCV000447331] ChrX:152228560..154930047 [GRCh37]
ChrX:Xq28
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 Xq28(chrX:150253008-155233731)x1 copy number loss See cases [RCV000446761] ChrX:150253008..155233731 [GRCh37]
ChrX:Xq28
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_005629.4(SLC6A8):c.30C>T (p.Ile10=) single nucleotide variant not provided [RCV000870909]|not specified [RCV000441339] ChrX:153688604 [GRCh38]
ChrX:152954059 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1016+10G>A single nucleotide variant Creatine transporter deficiency [RCV000545132]|not specified [RCV000431135] ChrX:153693376 [GRCh38]
ChrX:152958831 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_005629.4(SLC6A8):c.1632G>C (p.Pro544=) single nucleotide variant not specified [RCV000431186] ChrX:153694754 [GRCh38]
ChrX:152960209 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.912+9G>A single nucleotide variant Creatine transporter deficiency [RCV001082450]|not provided [RCV000462347]|not specified [RCV000445146] ChrX:153693184 [GRCh38]
ChrX:152958639 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_005629.4(SLC6A8):c.282C>T (p.Tyr94=) single nucleotide variant Creatine transporter deficiency [RCV000861578]|not specified [RCV000424144] ChrX:153690394 [GRCh38]
ChrX:152955849 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_005629.4(SLC6A8):c.644+8C>T single nucleotide variant Creatine transporter deficiency [RCV000458564]|not specified [RCV000438141] ChrX:153691561 [GRCh38]
ChrX:152957016 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1496-18C>T single nucleotide variant not specified [RCV000441795] ChrX:153694515 [GRCh38]
ChrX:152959970 [GRCh37]
ChrX:Xq28
benign
NM_005629.4(SLC6A8):c.951C>T (p.Tyr317=) single nucleotide variant Creatine transporter deficiency [RCV000946266]|not specified [RCV000418108] ChrX:153693301 [GRCh38]
ChrX:152958756 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.777+4C>T single nucleotide variant Creatine transporter deficiency [RCV000474891]|History of neurodevelopmental disorder [RCV000715719]|not specified [RCV000424312] ChrX:153692111 [GRCh38]
ChrX:152957566 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity
NM_005629.4(SLC6A8):c.1016+9C>T single nucleotide variant Creatine transporter deficiency [RCV000467082]|not specified [RCV000424385] ChrX:153693375 [GRCh38]
ChrX:152958830 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_005629.4(SLC6A8):c.1141+18G>A single nucleotide variant not provided [RCV000515029]|not specified [RCV000427869] ChrX:153693604 [GRCh38]
ChrX:152959059 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_005629.4(SLC6A8):c.1016+12C>T single nucleotide variant not specified [RCV000435094] ChrX:153693378 [GRCh38]
ChrX:152958833 [GRCh37]
ChrX:Xq28
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_005629.4(SLC6A8):c.1767+20C>T single nucleotide variant not specified [RCV000418695] ChrX:153694909 [GRCh38]
ChrX:152960364 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1250G>A (p.Ser417Asn) single nucleotide variant not provided [RCV000418727] ChrX:153694013 [GRCh38]
ChrX:152959468 [GRCh37]
ChrX:Xq28
likely pathogenic|uncertain significance
NM_005629.4(SLC6A8):c.639C>T (p.Phe213=) single nucleotide variant not specified [RCV000421332] ChrX:153691548 [GRCh38]
ChrX:152957003 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1496-5C>T single nucleotide variant Creatine transporter deficiency [RCV001083862]|History of neurodevelopmental disorder [RCV000718478]|not provided [RCV000713353]|not specified [RCV000435284] ChrX:153694528 [GRCh38]
ChrX:152959983 [GRCh37]
ChrX:Xq28
benign
NM_005629.4(SLC6A8):c.1767+15C>T single nucleotide variant Creatine transporter deficiency [RCV000607596]|not specified [RCV000442427] ChrX:153694904 [GRCh38]
ChrX:152960359 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1614C>T (p.Asn538=) single nucleotide variant Creatine transporter deficiency [RCV000528560]|not specified [RCV000442439] ChrX:153694736 [GRCh38]
ChrX:152960191 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.-11C>T single nucleotide variant not specified [RCV000442579] ChrX:153688564 [GRCh38]
ChrX:152954019 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1677C>T (p.Ala559=) single nucleotide variant not specified [RCV000428533] ChrX:153694799 [GRCh38]
ChrX:152960254 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.813C>T (p.Val271=) single nucleotide variant Creatine transporter deficiency [RCV001082723]|History of neurodevelopmental disorder [RCV000718387]|not provided [RCV000468467]|not specified [RCV000418972] ChrX:153693076 [GRCh38]
ChrX:152958531 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_005629.4(SLC6A8):c.1323C>T (p.Phe441=) single nucleotide variant not specified [RCV000418987] ChrX:153694198 [GRCh38]
ChrX:152959653 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.627T>C (p.Pro209=) single nucleotide variant not specified [RCV000421703] ChrX:153691536 [GRCh38]
ChrX:152956991 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1452C>G (p.Leu484=) single nucleotide variant Creatine transporter deficiency [RCV001088818]|not provided [RCV000474931]|not specified [RCV000432179] ChrX:153694403 [GRCh38]
ChrX:152959858 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1719G>A (p.Pro573=) single nucleotide variant Creatine transporter deficiency [RCV000471657]|not specified [RCV000435731] ChrX:153694841 [GRCh38]
ChrX:152960296 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.644+20G>A single nucleotide variant not specified [RCV000439385] ChrX:153691573 [GRCh38]
ChrX:152957028 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.645-14C>T single nucleotide variant not specified [RCV000439406] ChrX:153691961 [GRCh38]
ChrX:152957416 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1495+8A>G single nucleotide variant Creatine transporter deficiency [RCV000982921]|not specified [RCV000422098] ChrX:153694454 [GRCh38]
ChrX:152959909 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.913-17C>G single nucleotide variant not specified [RCV000432404] ChrX:153693246 [GRCh38]
ChrX:152958701 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.780C>T (p.Ile260=) single nucleotide variant Creatine transporter deficiency [RCV001085473]|not provided [RCV000713357]|not specified [RCV000429265] ChrX:153693043 [GRCh38]
ChrX:152958498 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_005629.4(SLC6A8):c.1597-20C>T single nucleotide variant not specified [RCV000436194] ChrX:153694699 [GRCh38]
ChrX:152960154 [GRCh37]
ChrX:Xq28
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_005629.4(SLC6A8):c.807C>T (p.Tyr269=) single nucleotide variant Creatine transporter deficiency [RCV000877528]|not specified [RCV000426002] ChrX:153693070 [GRCh38]
ChrX:152958525 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_005629.4(SLC6A8):c.645-6C>T single nucleotide variant Creatine transporter deficiency [RCV000862722]|not specified [RCV000432802] ChrX:153691969 [GRCh38]
ChrX:152957424 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_005629.4(SLC6A8):c.471T>C (p.Tyr157=) single nucleotide variant not specified [RCV000436464] ChrX:153691380 [GRCh38]
ChrX:152956835 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1662G>A (p.Pro554=) single nucleotide variant Creatine transporter deficiency [RCV000862460]|not specified [RCV000420044] ChrX:153694784 [GRCh38]
ChrX:152960239 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_005629.4(SLC6A8):c.1020C>T (p.Asp340=) single nucleotide variant Creatine transporter deficiency [RCV000472673]|not specified [RCV000422608] ChrX:153693465 [GRCh38]
ChrX:152958920 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_005629.4(SLC6A8):c.48C>A (p.Asp16Glu) single nucleotide variant not provided [RCV000433087] ChrX:153688622 [GRCh38]
ChrX:152954077 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.459C>T (p.Ala153=) single nucleotide variant Creatine transporter deficiency [RCV000864241]|not specified [RCV000429988] ChrX:153691368 [GRCh38]
ChrX:152956823 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.819C>T (p.Val273=) single nucleotide variant Creatine transporter deficiency [RCV000865627]|not specified [RCV000426552] ChrX:153693082 [GRCh38]
ChrX:152958537 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_005629.4(SLC6A8):c.1830C>T (p.Asp610=) single nucleotide variant Creatine transporter deficiency [RCV000863668]|not specified [RCV000430245] ChrX:153695136 [GRCh38]
ChrX:152960591 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.87G>C (p.Gly29=) single nucleotide variant Creatine transporter deficiency [RCV000554178]|History of neurodevelopmental disorder [RCV000717429]|not specified [RCV000440724] ChrX:153688661 [GRCh38]
ChrX:152954116 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1496-17G>A single nucleotide variant not specified [RCV000420312] ChrX:153694516 [GRCh38]
ChrX:152959971 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1281C>T (p.Thr427=) single nucleotide variant Creatine transporter deficiency [RCV000862075]|not specified [RCV000423302] ChrX:153694156 [GRCh38]
ChrX:152959611 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1678A>G (p.Met560Val) single nucleotide variant Creatine transporter deficiency [RCV000463742]|History of neurodevelopmental disorder [RCV000718032]|not specified [RCV000440955] ChrX:153694800 [GRCh38]
ChrX:152960255 [GRCh37]
ChrX:Xq28
benign
NM_005629.4(SLC6A8):c.912+19G>A single nucleotide variant not specified [RCV000420502] ChrX:153693194 [GRCh38]
ChrX:152958649 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.826C>T (p.Leu276=) single nucleotide variant not specified [RCV000423520] ChrX:153693089 [GRCh38]
ChrX:152958544 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1533C>T (p.Ile511=) single nucleotide variant Creatine deficiency syndrome 1 [RCV001276525]|Creatine transporter deficiency [RCV000862707]|not specified [RCV000430771] ChrX:153694570 [GRCh38]
ChrX:152960025 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.990C>T (p.Tyr330=) single nucleotide variant not specified [RCV000437530] ChrX:153693340 [GRCh38]
ChrX:152958795 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1831G>A (p.Ala611Thr) single nucleotide variant not specified [RCV000441080] ChrX:153695137 [GRCh38]
ChrX:152960592 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq28(chrX:152886474-153368990)x2 copy number gain See cases [RCV000448796] ChrX:152886474..153368990 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1 copy number loss See cases [RCV000448865] ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NM_005629.4(SLC6A8):c.1626C>T (p.Tyr542=) single nucleotide variant Creatine transporter deficiency [RCV000466556] ChrX:153694748 [GRCh38]
ChrX:152960203 [GRCh37]
ChrX:Xq28
benign
NM_005629.4(SLC6A8):c.498G>A (p.Thr166=) single nucleotide variant Creatine transporter deficiency [RCV000463250]|History of neurodevelopmental disorder [RCV000718260]|not specified [RCV000607709] ChrX:153691407 [GRCh38]
ChrX:152956862 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_005629.4(SLC6A8):c.644+9G>A single nucleotide variant Creatine transporter deficiency [RCV000459921] ChrX:153691562 [GRCh38]
ChrX:152957017 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1570T>A (p.Ser524Thr) single nucleotide variant Creatine transporter deficiency [RCV001089017]|not provided [RCV000467430]|not specified [RCV000612205] ChrX:153694607 [GRCh38]
ChrX:152960062 [GRCh37]
ChrX:Xq28
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005629.4(SLC6A8):c.975A>C (p.Thr325=) single nucleotide variant Creatine transporter deficiency [RCV001082216]|not provided [RCV000841909] ChrX:153693325 [GRCh38]
ChrX:152958780 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_005629.4(SLC6A8):c.912G>C (p.Gln304His) single nucleotide variant not provided [RCV000483324] ChrX:153693175 [GRCh38]
ChrX:152958630 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_005629.4(SLC6A8):c.644+3_644+6del microsatellite not provided [RCV000483516] ChrX:153691552..153691555 [GRCh38]
ChrX:152957007..152957010 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_005629.4(SLC6A8):c.1597-5C>T single nucleotide variant Creatine transporter deficiency [RCV000457046] ChrX:153694714 [GRCh38]
ChrX:152960169 [GRCh37]
ChrX:Xq28
benign
NM_005629.4(SLC6A8):c.1414C>T (p.Leu472=) single nucleotide variant Creatine transporter deficiency [RCV000457112]|not specified [RCV000603395] ChrX:153694365 [GRCh38]
ChrX:152959820 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1790C>T (p.Pro597Leu) single nucleotide variant Creatine transporter deficiency [RCV000460777] ChrX:153695096 [GRCh38]
ChrX:152960551 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.972_973CA[1] (p.Thr325fs) microsatellite Creatine transporter deficiency [RCV000472365] ChrX:153693322..153693323 [GRCh38]
ChrX:152958777..152958778 [GRCh37]
ChrX:Xq28
pathogenic
NM_005629.4(SLC6A8):c.1473C>T (p.Cys491=) single nucleotide variant Creatine transporter deficiency [RCV001085866]|not provided [RCV000476483]|not specified [RCV000606413] ChrX:153694424 [GRCh38]
ChrX:152959879 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_005629.4(SLC6A8):c.1713C>T (p.Cys571=) single nucleotide variant Creatine transporter deficiency [RCV000465469]|History of neurodevelopmental disorder [RCV000719939]|not specified [RCV000612909] ChrX:153694835 [GRCh38]
ChrX:152960290 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_005629.4(SLC6A8):c.42C>T (p.Ser14=) single nucleotide variant Creatine transporter deficiency [RCV000458167] ChrX:153688616 [GRCh38]
ChrX:152954071 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1640_1642ACA[2] (p.Asn549del) microsatellite not provided [RCV000486770] ChrX:153694762..153694764 [GRCh38]
ChrX:152960217..152960219 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.820G>A (p.Val274Met) single nucleotide variant Creatine transporter deficiency [RCV000458335] ChrX:153693083 [GRCh38]
ChrX:152958538 [GRCh37]
ChrX:Xq28
benign
NM_005629.4(SLC6A8):c.116G>A (p.Gly39Asp) single nucleotide variant Creatine transporter deficiency [RCV000477133] ChrX:153688690 [GRCh38]
ChrX:152954145 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.*3_*7del deletion not specified [RCV000487329] ChrX:153695215..153695219 [GRCh38]
ChrX:152960670..152960674 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq28(chrX:151201777-154741703)x2 copy number gain See cases [RCV000510478] ChrX:151201777..154741703 [GRCh37]
ChrX:Xq28
pathogenic
NM_005629.4(SLC6A8):c.1496-4G>A single nucleotide variant Creatine transporter deficiency [RCV000640940]|not specified [RCV000501297] ChrX:153694529 [GRCh38]
ChrX:152959984 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_005629.4(SLC6A8):c.1162G>A (p.Ala388Thr) single nucleotide variant Creatine transporter deficiency [RCV000640937]|not provided [RCV001092998]|not specified [RCV000499651] ChrX:153693925 [GRCh38]
ChrX:152959380 [GRCh37]
ChrX:Xq28
benign|likely benign|uncertain significance
NM_005629.4(SLC6A8):c.1038C>T (p.Leu346=) single nucleotide variant Creatine transporter deficiency [RCV000865093]|not specified [RCV000502287] ChrX:153693483 [GRCh38]
ChrX:152958938 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.56A>C (p.Lys19Thr) single nucleotide variant not provided [RCV000498276] ChrX:153688630 [GRCh38]
ChrX:152954085 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1879A>C (p.Lys627Gln) single nucleotide variant not provided [RCV000498558] ChrX:153695185 [GRCh38]
ChrX:152960640 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1583del (p.Pro528fs) deletion Creatine transporter deficiency [RCV000503193] ChrX:153694617 [GRCh38]
ChrX:152960072 [GRCh37]
ChrX:Xq28
pathogenic
NM_005629.4(SLC6A8):c.1767G>A (p.Glu589=) single nucleotide variant Creatine deficiency syndrome 1 [RCV001276526]|Creatine transporter deficiency [RCV001301234]|not provided [RCV000493894] ChrX:153694889 [GRCh38]
ChrX:152960344 [GRCh37]
ChrX:Xq28
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_005629.4(SLC6A8):c.1255-31C>T single nucleotide variant not specified [RCV000506020] ChrX:153694099 [GRCh38]
ChrX:152959554 [GRCh37]
ChrX:Xq28
benign
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
NM_005629.4(SLC6A8):c.832C>T (p.Arg278Cys) single nucleotide variant not specified [RCV000507638] ChrX:153693095 [GRCh38]
ChrX:152958550 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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 Xq27.3-28(chrX:146232592-155233731)x1 copy number loss See cases [RCV000511228] ChrX:146232592..155233731 [GRCh37]
ChrX:Xq27.3-28
pathogenic
NM_005629.4(SLC6A8):c.946dup (p.Ser316fs) duplication not provided [RCV000713358] ChrX:153693292..153693293 [GRCh38]
ChrX:152958747..152958748 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq28(chrX:152559822-153104847)x3 copy number gain See cases [RCV000511269] ChrX:152559822..153104847 [GRCh37]
ChrX:Xq28
uncertain significance
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 Xq28(chrX:151963528-155233731)x1 copy number loss See cases [RCV000510866] ChrX:151963528..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:151311551-155233731)x1 copy number loss See cases [RCV000510920] ChrX:151311551..155233731 [GRCh37]
ChrX:Xq28
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_005629.4(SLC6A8):c.93G>A (p.Pro31=) single nucleotide variant Creatine transporter deficiency [RCV000530367] ChrX:153688667 [GRCh38]
ChrX:152954122 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.-5del deletion not specified [RCV000599828] ChrX:153688570 [GRCh38]
ChrX:152954025 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1778A>G (p.His593Arg) single nucleotide variant Creatine transporter deficiency [RCV000541130]|History of neurodevelopmental disorder [RCV000717314]|not specified [RCV000614252] ChrX:153695084 [GRCh38]
ChrX:152960539 [GRCh37]
ChrX:Xq28
benign|likely benign|uncertain significance
NM_005629.4(SLC6A8):c.1145C>T (p.Pro382Leu) single nucleotide variant Creatine transporter deficiency [RCV000640931]|Intellectual disability [RCV001255373] ChrX:153693908 [GRCh38]
ChrX:152959363 [GRCh37]
ChrX:Xq28
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_005629.4(SLC6A8):c.1597-4G>A single nucleotide variant Creatine transporter deficiency [RCV000640936] ChrX:153694715 [GRCh38]
ChrX:152960170 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1768-16T>C single nucleotide variant not specified [RCV000602516] ChrX:153695058 [GRCh38]
ChrX:152960513 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1692C>G (p.Phe564Leu) single nucleotide variant Creatine transporter deficiency [RCV000863263]|not specified [RCV000612200] ChrX:153694814 [GRCh38]
ChrX:152960269 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_005629.4(SLC6A8):c.1767+11C>A single nucleotide variant not specified [RCV000601821] ChrX:153694900 [GRCh38]
ChrX:152960355 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.395-9C>T single nucleotide variant not specified [RCV000616158] ChrX:153691295 [GRCh38]
ChrX:152956750 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.913-13G>T single nucleotide variant not specified [RCV000607916] ChrX:153693250 [GRCh38]
ChrX:152958705 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1692C>T (p.Phe564=) single nucleotide variant Creatine transporter deficiency [RCV000861967]|not specified [RCV000616709] ChrX:153694814 [GRCh38]
ChrX:152960269 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_005629.4(SLC6A8):c.1768-8_1768-7del microsatellite Creatine transporter deficiency [RCV000640933] ChrX:153695063..153695064 [GRCh38]
ChrX:152960518..152960519 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1653C>T (p.Tyr551=) single nucleotide variant Creatine transporter deficiency [RCV000640939] ChrX:153694775 [GRCh38]
ChrX:152960230 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.778-8C>G single nucleotide variant Creatine transporter deficiency [RCV000865622]|not specified [RCV000610821] ChrX:153693033 [GRCh38]
ChrX:152958488 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_005629.4(SLC6A8):c.1161C>T (p.Ile387=) single nucleotide variant not specified [RCV000616861] ChrX:153693924 [GRCh38]
ChrX:152959379 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1767+11C>T single nucleotide variant not specified [RCV000608274] ChrX:153694900 [GRCh38]
ChrX:152960355 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1053C>G (p.Thr351=) single nucleotide variant not specified [RCV000613704] ChrX:153693498 [GRCh38]
ChrX:152958953 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1767+5G>A single nucleotide variant not specified [RCV000608450] ChrX:153694894 [GRCh38]
ChrX:152960349 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.856C>T (p.Leu286=) single nucleotide variant not specified [RCV000611513] ChrX:153693119 [GRCh38]
ChrX:152958574 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.405C>T (p.Tyr135=) single nucleotide variant not specified [RCV000614406] ChrX:153691314 [GRCh38]
ChrX:152956769 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1146G>A (p.Pro382=) single nucleotide variant Creatine transporter deficiency [RCV000533855] ChrX:153693909 [GRCh38]
ChrX:152959364 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1597-19G>A single nucleotide variant not specified [RCV000609391] ChrX:153694700 [GRCh38]
ChrX:152960155 [GRCh37]
ChrX:Xq28
likely benign
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 Xq28(chrX:152899437-153624564)x2 copy number gain See cases [RCV000512403] ChrX:152899437..153624564 [GRCh37]
ChrX:Xq28
pathogenic
NM_005629.4(SLC6A8):c.1497A>G (p.Gly499=) single nucleotide variant not specified [RCV000604540] ChrX:153694534 [GRCh38]
ChrX:152959989 [GRCh37]
ChrX:Xq28
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_005629.4(SLC6A8):c.1515C>T (p.Asp505=) single nucleotide variant Creatine transporter deficiency [RCV000640938] ChrX:153694552 [GRCh38]
ChrX:152960007 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1768-9C>G single nucleotide variant Creatine transporter deficiency [RCV000640943] ChrX:153695065 [GRCh38]
ChrX:152960520 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1393-7C>T single nucleotide variant Creatine transporter deficiency [RCV000867105]|not specified [RCV000600602] ChrX:153694337 [GRCh38]
ChrX:152959792 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1016+2T>C single nucleotide variant Inborn genetic diseases [RCV000622581] ChrX:153693368 [GRCh38]
ChrX:152958823 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_005629.4(SLC6A8):c.1208C>T (p.Ala403Val) single nucleotide variant Seizures [RCV000626885] ChrX:153693971 [GRCh38]
ChrX:152959426 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_005629.4(SLC6A8):c.190T>C (p.Ser64Pro) single nucleotide variant Inborn genetic diseases [RCV000623348] ChrX:153688764 [GRCh38]
ChrX:152954219 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1768-10T>C single nucleotide variant not specified [RCV000601440] ChrX:153695064 [GRCh38]
ChrX:152960519 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1668G>A (p.Trp556Ter) single nucleotide variant not provided [RCV000657772] ChrX:153694790 [GRCh38]
ChrX:152960245 [GRCh37]
ChrX:Xq28
pathogenic
Single allele duplication not provided [RCV000677999] ChrX:152912867..153236360 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.340C>A (p.Gln114Lys) single nucleotide variant Creatine transporter deficiency [RCV000680099] ChrX:153690452 [GRCh38]
ChrX:152955907 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.672A>G (p.Gly224=) single nucleotide variant History of neurodevelopmental disorder [RCV000717149] ChrX:153692002 [GRCh38]
ChrX:152957457 [GRCh37]
ChrX:Xq28
likely 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 Xq27.1-28(chrX:138331745-155233731)x1 copy number loss not provided [RCV000684397] ChrX:138331745..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 copy number loss not provided [RCV000684401] ChrX:139504488..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 copy number gain not provided [RCV000684402] ChrX:140388077..155233731 [GRCh37]
ChrX:Xq27.2-28
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 Xq28(chrX:152398094-153176959)x2 copy number gain not provided [RCV000684736] ChrX:152398094..153176959 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:152628304-153594168)x2 copy number gain not provided [RCV000684738] ChrX:152628304..153594168 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:152941302-153438781)x3 copy number gain not provided [RCV000684739] ChrX:152941302..153438781 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_005629.4(SLC6A8):c.1794C>G (p.Ile598Met) single nucleotide variant Creatine transporter deficiency [RCV000688594] ChrX:153695100 [GRCh38]
ChrX:152960555 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1302G>A (p.Pro434=) single nucleotide variant Creatine transporter deficiency [RCV000692629] ChrX:153694177 [GRCh38]
ChrX:152959632 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1901T>C (p.Val634Ala) single nucleotide variant Creatine transporter deficiency [RCV000687637] ChrX:153695207 [GRCh38]
ChrX:152960662 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_152954010)_(153599633_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000707841] ChrX:152954010..153599633 [GRCh37]
ChrX:Xq28
pathogenic
NM_005629.4(SLC6A8):c.1104dup (p.Glu369fs) duplication Creatine transporter deficiency [RCV000705494] ChrX:153693548..153693549 [GRCh38]
ChrX:152959003..152959004 [GRCh37]
ChrX:Xq28
pathogenic
NM_005629.4(SLC6A8):c.92C>T (p.Pro31Leu) single nucleotide variant Creatine transporter deficiency [RCV000694042]|not provided [RCV000842126] ChrX:153688666 [GRCh38]
ChrX:152954121 [GRCh37]
ChrX:Xq28
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005629.4(SLC6A8):c.1874G>A (p.Ser625Asn) single nucleotide variant not provided [RCV000713355] ChrX:153695180 [GRCh38]
ChrX:152960635 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1888G>A (p.Val630Met) single nucleotide variant Creatine transporter deficiency [RCV000703297] ChrX:153695194 [GRCh38]
ChrX:152960649 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1455G>A (p.Trp485Ter) single nucleotide variant Creatine transporter deficiency [RCV000703298] ChrX:153694406 [GRCh38]
ChrX:152959861 [GRCh37]
ChrX:Xq28
pathogenic
NM_005629.4(SLC6A8):c.1258G>A (p.Val420Ile) single nucleotide variant Creatine transporter deficiency [RCV000689262] ChrX:153694133 [GRCh38]
ChrX:152959588 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.26G>T (p.Gly9Val) single nucleotide variant Creatine transporter deficiency [RCV000692670] ChrX:153688600 [GRCh38]
ChrX:152954055 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_005629.4(SLC6A8):c.1659C>G (p.Tyr553Ter) single nucleotide variant Creatine transporter deficiency [RCV000704541] ChrX:153694781 [GRCh38]
ChrX:152960236 [GRCh37]
ChrX:Xq28
pathogenic
NM_005629.4(SLC6A8):c.1810T>A (p.Leu604Met) single nucleotide variant Creatine transporter deficiency [RCV000707507]|not provided [RCV000839954] ChrX:153695116 [GRCh38]
ChrX:152960571 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_005629.4(SLC6A8):c.611_612delinsAC (p.Ala204Asp) indel History of neurodevelopmental disorder [RCV000716956] ChrX:153691520..153691521 [GRCh38]
ChrX:152956975..152956976 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1297C>T (p.Leu433Phe) single nucleotide variant History of neurodevelopmental disorder [RCV000717192] ChrX:153694172 [GRCh38]
ChrX:152959627 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.603C>T (p.Asp201=) single nucleotide variant Creatine transporter deficiency [RCV000861643]|History of neurodevelopmental disorder [RCV000717326] ChrX:153691512 [GRCh38]
ChrX:152956967 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_005629.4(SLC6A8):c.1720C>T (p.Leu574=) single nucleotide variant History of neurodevelopmental disorder [RCV000718269] ChrX:153694842 [GRCh38]
ChrX:152960297 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.981G>A (p.Leu327=) single nucleotide variant History of neurodevelopmental disorder [RCV000717867] ChrX:153693331 [GRCh38]
ChrX:152958786 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.786C>T (p.Tyr262=) single nucleotide variant History of neurodevelopmental disorder [RCV000718236] ChrX:153693049 [GRCh38]
ChrX:152958504 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.318C>T (p.Phe106=) single nucleotide variant History of neurodevelopmental disorder [RCV000718491] ChrX:153690430 [GRCh38]
ChrX:152955885 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 copy number loss not provided [RCV000753810] ChrX:138750575..155246749 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:152806628-153626649)x2 copy number gain not provided [RCV000753922] ChrX:152806628..153626649 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:152932626-153008731)x2 copy number gain not provided [RCV000753923] ChrX:152932626..153008731 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq28(chrX:152959115-152982350)x2 copy number gain not provided [RCV000753924] ChrX:152959115..152982350 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1 copy number loss not provided [RCV000753815] ChrX:139504958..155254881 [GRCh37]
ChrX:Xq27.1-28
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_005629.4(SLC6A8):c.1791C>T (p.Pro597=) single nucleotide variant Creatine transporter deficiency [RCV000937737] ChrX:153695097 [GRCh38]
ChrX:152960552 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_005629.4(SLC6A8):c.1218C>A (p.Phe406Leu) single nucleotide variant not provided [RCV000762678] ChrX:153693981 [GRCh38]
ChrX:152959436 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1505G>A (p.Arg502His) single nucleotide variant Creatine transporter deficiency [RCV000864786] ChrX:153694542 [GRCh38]
ChrX:152959997 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.927G>A (p.Ala309=) single nucleotide variant Creatine transporter deficiency [RCV000868267] ChrX:153693277 [GRCh38]
ChrX:152958732 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1767+11dup duplication Creatine deficiency syndrome 1 [RCV001276527]|not provided [RCV000949453] ChrX:153694897..153694898 [GRCh38]
ChrX:152960352..152960353 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1170G>A (p.Pro390=) single nucleotide variant Creatine transporter deficiency [RCV000863219] ChrX:153693933 [GRCh38]
ChrX:152959388 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1164C>A (p.Ala388=) single nucleotide variant Creatine transporter deficiency [RCV000867174] ChrX:153693927 [GRCh38]
ChrX:152959382 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1254+6C>T single nucleotide variant Creatine transporter deficiency [RCV000865623] ChrX:153694023 [GRCh38]
ChrX:152959478 [GRCh37]
ChrX:Xq28
benign
NM_005629.4(SLC6A8):c.1683C>A (p.Gly561=) single nucleotide variant not provided [RCV000867294] ChrX:153694805 [GRCh38]
ChrX:152960260 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.204C>T (p.Phe68=) single nucleotide variant Creatine transporter deficiency [RCV000959496] ChrX:153688778 [GRCh38]
ChrX:152954233 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.633C>T (p.Ile211=) single nucleotide variant not provided [RCV000867070] ChrX:153691542 [GRCh38]
ChrX:152956997 [GRCh37]
ChrX:Xq28
benign
NM_005629.4(SLC6A8):c.453G>A (p.Val151=) single nucleotide variant not provided [RCV000905848] ChrX:153691362 [GRCh38]
ChrX:152956817 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1602C>T (p.Ile534=) single nucleotide variant not provided [RCV000878276] ChrX:153694724 [GRCh38]
ChrX:152960179 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.533C>G (p.Thr178Ser) single nucleotide variant Creatine transporter deficiency [RCV000868929] ChrX:153691442 [GRCh38]
ChrX:152956897 [GRCh37]
ChrX:Xq28
benign
NM_005629.4(SLC6A8):c.537C>T (p.Pro179=) single nucleotide variant Creatine transporter deficiency [RCV000866072] ChrX:153691446 [GRCh38]
ChrX:152956901 [GRCh37]
ChrX:Xq28
benign
NM_005629.4(SLC6A8):c.543C>T (p.Cys181=) single nucleotide variant Creatine transporter deficiency [RCV000927916] ChrX:153691452 [GRCh38]
ChrX:152956907 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1113C>T (p.Gly371=) single nucleotide variant Creatine transporter deficiency [RCV001034187] ChrX:153693558 [GRCh38]
ChrX:152959013 [GRCh37]
ChrX:Xq28
benign
NM_005629.4(SLC6A8):c.152C>T (p.Pro51Leu) single nucleotide variant Creatine transporter deficiency [RCV001039816] ChrX:153688726 [GRCh38]
ChrX:152954181 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NM_005629.4(SLC6A8):c.699G>A (p.Trp233Ter) single nucleotide variant Creatine transporter deficiency [RCV001066106] ChrX:153692029 [GRCh38]
ChrX:152957484 [GRCh37]
ChrX:Xq28
pathogenic
NM_005629.4(SLC6A8):c.463G>A (p.Gly155Ser) single nucleotide variant Creatine transporter deficiency [RCV000807506] ChrX:153691372 [GRCh38]
ChrX:152956827 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.11:g.153694343del deletion Creatine transporter deficiency [RCV000825014] ChrX:153694343 [GRCh38]
ChrX:152959798 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_005629.4(SLC6A8):c.940_944TTCTT[1] (p.Phe315fs) microsatellite Creatine transporter deficiency [RCV001221369]|not provided [RCV000782097] ChrX:153693288..153693292 [GRCh38]
ChrX:152958743..152958747 [GRCh37]
ChrX:Xq28
pathogenic
NM_005629.4(SLC6A8):c.1553G>T (p.Trp518Leu) single nucleotide variant not provided [RCV000782066] ChrX:153694590 [GRCh38]
ChrX:152960045 [GRCh37]
ChrX:Xq28
uncertain significance
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_005629.4(SLC6A8):c.1710G>A (p.Leu570=) single nucleotide variant not provided [RCV000862789] ChrX:153694832 [GRCh38]
ChrX:152960287 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.913-8T>C single nucleotide variant Creatine transporter deficiency [RCV000871979]|not provided [RCV001092171] ChrX:153693255 [GRCh38]
ChrX:152958710 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_005629.4(SLC6A8):c.234C>T (p.Phe78=) single nucleotide variant not provided [RCV000939466] ChrX:153688808 [GRCh38]
ChrX:152954263 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1395C>T (p.Gly465=) single nucleotide variant Creatine transporter deficiency [RCV000866709] ChrX:153694346 [GRCh38]
ChrX:152959801 [GRCh37]
ChrX:Xq28
benign
NM_005629.4(SLC6A8):c.1155C>T (p.Ala385=) single nucleotide variant Creatine transporter deficiency [RCV000862401] ChrX:153693918 [GRCh38]
ChrX:152959373 [GRCh37]
ChrX:Xq28
benign
NM_005629.4(SLC6A8):c.1504C>T (p.Arg502Cys) single nucleotide variant Creatine transporter deficiency [RCV000940946]|not provided [RCV001310749] ChrX:153694541 [GRCh38]
ChrX:152959996 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.291C>T (p.Ile97=) single nucleotide variant not provided [RCV000922366] ChrX:153690403 [GRCh38]
ChrX:152955858 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.615C>T (p.Asp205=) single nucleotide variant not provided [RCV000921990] ChrX:153691524 [GRCh38]
ChrX:152956979 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1596+10G>A single nucleotide variant not provided [RCV000980219] ChrX:153694643 [GRCh38]
ChrX:152960098 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1542A>G (p.Arg514=) single nucleotide variant not provided [RCV000941293] ChrX:153694579 [GRCh38]
ChrX:152960034 [GRCh37]
ChrX:Xq28
likely benign
NC_000023.10:g.(?_152954020)_(154096327_?)del deletion Adrenoleukodystrophy [RCV000815921] ChrX:152954020..154096327 [GRCh37]
ChrX:Xq28
pathogenic
NM_005629.4(SLC6A8):c.1884C>T (p.Val628=) single nucleotide variant Creatine transporter deficiency [RCV001087460]|not provided [RCV000828092] ChrX:153695190 [GRCh38]
ChrX:152960645 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_005629.4(SLC6A8):c.214T>C (p.Leu72=) single nucleotide variant not provided [RCV000959497] ChrX:153688788 [GRCh38]
ChrX:152954243 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1525T>C (p.Cys509Arg) single nucleotide variant Creatine deficiency syndrome 1 [RCV001276524]|Creatine transporter deficiency [RCV000810424] ChrX:153694562 [GRCh38]
ChrX:152960017 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1518C>T (p.Asp506=) single nucleotide variant not provided [RCV000842186] ChrX:153694555 [GRCh38]
ChrX:152960010 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.145G>C (p.Val49Leu) single nucleotide variant Creatine transporter deficiency [RCV000815145] ChrX:153688719 [GRCh38]
ChrX:152954174 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.457dup (p.Ala153fs) duplication Creatine transporter deficiency [RCV000807177] ChrX:153691364..153691365 [GRCh38]
ChrX:152956819..152956820 [GRCh37]
ChrX:Xq28
pathogenic
NM_005629.4(SLC6A8):c.496A>G (p.Thr166Ala) single nucleotide variant Creatine transporter deficiency [RCV000808848] ChrX:153691405 [GRCh38]
ChrX:152956860 [GRCh37]
ChrX:Xq28
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_005629.4(SLC6A8):c.76G>A (p.Gly26Arg) single nucleotide variant Creatine transporter deficiency [RCV000796965] ChrX:153688650 [GRCh38]
ChrX:152954105 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_005629.4(SLC6A8):c.1703C>A (p.Ser568Tyr) single nucleotide variant Creatine transporter deficiency [RCV000825023] ChrX:153694825 [GRCh38]
ChrX:152960280 [GRCh37]
ChrX:Xq28
pathogenic
NM_005629.4(SLC6A8):c.1245C>G (p.Leu415=) single nucleotide variant not provided [RCV000842155] ChrX:153694008 [GRCh38]
ChrX:152959463 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1428C>A (p.Tyr476Ter) single nucleotide variant Creatine transporter deficiency [RCV000821021] ChrX:153694379 [GRCh38]
ChrX:152959834 [GRCh37]
ChrX:Xq28
pathogenic
NM_005629.4(SLC6A8):c.912+15G>A single nucleotide variant not provided [RCV000842496] ChrX:153693190 [GRCh38]
ChrX:152958645 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1142-2A>C single nucleotide variant Creatine transporter deficiency [RCV000851519] ChrX:153693903 [GRCh38]
ChrX:152959358 [GRCh37]
ChrX:Xq28
pathogenic
NM_005629.4(SLC6A8):c.89C>T (p.Ala30Val) single nucleotide variant Creatine transporter deficiency [RCV000805153] ChrX:153688663 [GRCh38]
ChrX:152954118 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:152765599-152970126)x3 copy number gain not provided [RCV000848856] ChrX:152765599..152970126 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.54G>C (p.Lys18Asn) single nucleotide variant Creatine deficiency syndrome 1 [RCV001276523]|Creatine transporter deficiency [RCV000811457] ChrX:153688628 [GRCh38]
ChrX:152954083 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1698G>C (p.Leu566=) single nucleotide variant not provided [RCV000840752] ChrX:153694820 [GRCh38]
ChrX:152960275 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1068C>T (p.Gly356=) single nucleotide variant Creatine transporter deficiency [RCV000990969] ChrX:153693513 [GRCh38]
ChrX:152958968 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1396G>A (p.Gly466Arg) single nucleotide variant Creatine transporter deficiency [RCV000990970] ChrX:153694347 [GRCh38]
ChrX:152959802 [GRCh37]
ChrX:Xq28
pathogenic
NM_005629.4(SLC6A8):c.626_627del (p.Pro209fs) deletion Creatine transporter deficiency [RCV000786917] ChrX:153691535..153691536 [GRCh38]
ChrX:152956990..152956991 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_152959340)_(153009209_?)del deletion Adrenoleukodystrophy [RCV000805899] ChrX:152959340..153009209 [GRCh37]
ChrX:Xq28
pathogenic
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_005629.4(SLC6A8):c.681G>A (p.Val227=) single nucleotide variant not provided [RCV000828131] ChrX:153692011 [GRCh38]
ChrX:152957466 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1221C>T (p.Phe407=) single nucleotide variant Creatine transporter deficiency [RCV000978414] ChrX:153693984 [GRCh38]
ChrX:152959439 [GRCh37]
ChrX:Xq28
benign
NM_005629.4(SLC6A8):c.644+9G>C single nucleotide variant not provided [RCV000871070] ChrX:153691562 [GRCh38]
ChrX:152957017 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1731G>A (p.Leu577=) single nucleotide variant not provided [RCV000827465] ChrX:153694853 [GRCh38]
ChrX:152960308 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.918_919del (p.Trp306fs) deletion not provided [RCV001092172] ChrX:153693268..153693269 [GRCh38]
ChrX:152958723..152958724 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:152398094-153086545)x2 copy number gain not provided [RCV000848454] ChrX:152398094..153086545 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_005629.4(SLC6A8):c.833G>A (p.Arg278His) single nucleotide variant not specified [RCV001174606] ChrX:153693096 [GRCh38]
ChrX:152958551 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.263_264GT[2] (p.Phe90fs) microsatellite not provided [RCV001171650] ChrX:153690375..153690376 [GRCh38]
ChrX:152955830..152955831 [GRCh37]
ChrX:Xq28
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
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_005629.4(SLC6A8):c.342G>C (p.Gln114His) single nucleotide variant Creatine transporter deficiency [RCV001210427] ChrX:153690454 [GRCh38]
ChrX:152955909 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_005629.4(SLC6A8):c.1040_1044delinsAAGA (p.Ile347fs) indel Creatine transporter deficiency [RCV001241124] ChrX:153693485..153693489 [GRCh38]
ChrX:152958940..152958944 [GRCh37]
ChrX:Xq28
pathogenic
NM_005629.4(SLC6A8):c.912+2T>G single nucleotide variant Creatine transporter deficiency [RCV001226930] ChrX:153693177 [GRCh38]
ChrX:152958632 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_005629.4(SLC6A8):c.964G>C (p.Gly322Arg) single nucleotide variant Creatine transporter deficiency [RCV001243472] ChrX:153693314 [GRCh38]
ChrX:152958769 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.592C>A (p.Leu198Ile) single nucleotide variant Creatine transporter deficiency [RCV001212077] ChrX:153691501 [GRCh38]
ChrX:152956956 [GRCh37]
ChrX:Xq28
uncertain significance
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
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
NM_005629.4(SLC6A8):c.52_54AAG[1] (p.Lys19del) microsatellite not provided [RCV000996039] ChrX:153688624..153688626 [GRCh38]
ChrX:152954079..152954081 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.913G>A (p.Val305Met) single nucleotide variant not provided [RCV000996040] ChrX:153693263 [GRCh38]
ChrX:152958718 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.356del (p.Gly119fs) deletion not provided [RCV001008204] ChrX:153690467 [GRCh38]
ChrX:152955922 [GRCh37]
ChrX:Xq28
pathogenic
NM_005629.4(SLC6A8):c.421G>A (p.Val141Ile) single nucleotide variant Creatine transporter deficiency [RCV001247127] ChrX:153691330 [GRCh38]
ChrX:152956785 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1495+7C>T single nucleotide variant not provided [RCV000930468] ChrX:153694453 [GRCh38]
ChrX:152959908 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.153G>A (p.Pro51=) single nucleotide variant not provided [RCV000931701] ChrX:153688727 [GRCh38]
ChrX:152954182 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.984C>G (p.Gly328=) single nucleotide variant Creatine transporter deficiency [RCV000919247] ChrX:153693334 [GRCh38]
ChrX:152958789 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1584G>A (p.Pro528=) single nucleotide variant Creatine transporter deficiency [RCV000863013] ChrX:153694621 [GRCh38]
ChrX:152960076 [GRCh37]
ChrX:Xq28
benign
NM_005629.4(SLC6A8):c.1496-7G>A single nucleotide variant Creatine transporter deficiency [RCV000875006] ChrX:153694526 [GRCh38]
ChrX:152959981 [GRCh37]
ChrX:Xq28
benign
NM_005629.4(SLC6A8):c.75C>G (p.Pro25=) single nucleotide variant not provided [RCV000930601] ChrX:153688649 [GRCh38]
ChrX:152954104 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.126A>G (p.Thr42=) single nucleotide variant not provided [RCV000959494] ChrX:153688700 [GRCh38]
ChrX:152954155 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.147G>T (p.Val49=) single nucleotide variant not provided [RCV000959495] ChrX:153688721 [GRCh38]
ChrX:152954176 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.768C>T (p.Ser256=) single nucleotide variant not provided [RCV000931312] ChrX:153692098 [GRCh38]
ChrX:152957553 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1285C>G (p.Leu429Val) single nucleotide variant Creatine transporter deficiency [RCV000887630]|not provided [RCV001092999] ChrX:153694160 [GRCh38]
ChrX:152959615 [GRCh37]
ChrX:Xq28
benign|uncertain significance
NM_005629.4(SLC6A8):c.1869C>T (p.Ser623=) single nucleotide variant Creatine deficiency syndrome 1 [RCV001279583]|Creatine transporter deficiency [RCV000863649] ChrX:153695175 [GRCh38]
ChrX:152960630 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.522C>T (p.His174=) single nucleotide variant not provided [RCV000864734] ChrX:153691431 [GRCh38]
ChrX:152956886 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.333G>A (p.Ser111=) single nucleotide variant Creatine transporter deficiency [RCV000872635] ChrX:153690445 [GRCh38]
ChrX:152955900 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.611C>T (p.Ala204Val) single nucleotide variant Creatine transporter deficiency [RCV001235444] ChrX:153691520 [GRCh38]
ChrX:152956975 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.418_421dup (p.Val141fs) duplication Creatine transporter deficiency [RCV001214605] ChrX:153691325..153691326 [GRCh38]
ChrX:152956780..152956781 [GRCh37]
ChrX:Xq28
pathogenic
NM_005629.4(SLC6A8):c.1313A>T (p.Tyr438Phe) single nucleotide variant Creatine transporter deficiency [RCV001217348] ChrX:153694188 [GRCh38]
ChrX:152959643 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1017-4_1023dup duplication Creatine transporter deficiency [RCV001241737] ChrX:153693455..153693456 [GRCh38]
ChrX:152958910..152958911 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.454C>T (p.Leu152=) single nucleotide variant not provided [RCV000934450] ChrX:153691363 [GRCh38]
ChrX:152956818 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.1242T>C (p.Gly414=) single nucleotide variant Creatine transporter deficiency [RCV000934916] ChrX:153694005 [GRCh38]
ChrX:152959460 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.964G>T (p.Gly322Trp) single nucleotide variant Creatine transporter deficiency [RCV001009546] ChrX:153693314 [GRCh38]
ChrX:152958769 [GRCh37]
ChrX:Xq28
not provided
NM_005629.4(SLC6A8):c.1853C>T (p.Thr618Ile) single nucleotide variant not provided [RCV001093000] ChrX:153695159 [GRCh38]
ChrX:152960614 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1626C>A (p.Tyr542Ter) single nucleotide variant Creatine transporter deficiency [RCV001262629]|Malignant hyperthermia, susceptibility to, 1 [RCV001253122] ChrX:153694748 [GRCh38]
ChrX:152960203 [GRCh37]
ChrX:Xq28
pathogenic
NM_005629.4(SLC6A8):c.1127A>G (p.Lys376Arg) single nucleotide variant Creatine transporter deficiency [RCV001047910] ChrX:153693572 [GRCh38]
ChrX:152959027 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_152954010)_(153363142_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV001033929] ChrX:152954010..153363142 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.11:g.(?_153688555)_(153688856_?)del deletion Creatine transporter deficiency [RCV001031574] ChrX:152954010..152954311 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_152954010)_(153141311_?)dup duplication Creatine transporter deficiency [RCV001033780] ChrX:152954010..153141311 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1864G>C (p.Val622Leu) single nucleotide variant Creatine deficiency syndrome 1 [RCV001276528]|Creatine transporter deficiency [RCV001047301] ChrX:153695170 [GRCh38]
ChrX:152960625 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.289A>G (p.Ile97Val) single nucleotide variant not provided [RCV001200551] ChrX:153690401 [GRCh38]
ChrX:152955856 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1819C>T (p.Arg607Ter) single nucleotide variant Creatine transporter deficiency [RCV001056518] ChrX:153695125 [GRCh38]
ChrX:152960580 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1483G>A (p.Ala495Thr) single nucleotide variant Creatine transporter deficiency [RCV001213059] ChrX:153694434 [GRCh38]
ChrX:152959889 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1513_1515GAC[1] (p.Asp506del) microsatellite Creatine transporter deficiency [RCV001063525] ChrX:153694550..153694552 [GRCh38]
ChrX:152960005..152960007 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.107G>T (p.Gly36Val) single nucleotide variant Creatine transporter deficiency [RCV001248171] ChrX:153688681 [GRCh38]
ChrX:152954136 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.467_469del (p.Phe156del) deletion Creatine transporter deficiency [RCV001211701] ChrX:153691374..153691376 [GRCh38]
ChrX:152956829..152956831 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1767+9C>G single nucleotide variant Creatine transporter deficiency [RCV001197786] ChrX:153694898 [GRCh38]
ChrX:152960353 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1494C>G (p.Tyr498Ter) single nucleotide variant Creatine transporter deficiency [RCV001027537] ChrX:153694445 [GRCh38]
ChrX:152959900 [GRCh37]
ChrX:Xq28
pathogenic
Single allele deletion Creatine transporter deficiency [RCV001009611] ChrX:152959835..152960127 [GRCh37]
ChrX:Xq28
not provided
NM_005629.4(SLC6A8):c.25G>T (p.Gly9Cys) single nucleotide variant Creatine transporter deficiency [RCV001202474] ChrX:153688599 [GRCh38]
ChrX:152954054 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:152516781-153368573)x2 copy number gain not provided [RCV001007365] ChrX:152516781..153368573 [GRCh37]
ChrX:Xq28
pathogenic
NM_005629.4(SLC6A8):c.928G>A (p.Gly310Arg) single nucleotide variant not provided [RCV000999633] ChrX:153693278 [GRCh38]
ChrX:152958733 [GRCh37]
ChrX:Xq28
not provided
NM_005629.4(SLC6A8):c.1501G>A (p.Asp501Asn) single nucleotide variant Creatine transporter deficiency [RCV001231515] ChrX:153694538 [GRCh38]
ChrX:152959993 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.3:c.1488_1899del deletion Creatine transporter deficiency [RCV001250756] ChrX:Xq28 likely pathogenic
NM_005629.4(SLC6A8):c.1232T>C (p.Leu411Ser) single nucleotide variant Creatine transporter deficiency [RCV001253760] ChrX:153693995 [GRCh38]
ChrX:152959450 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1255-35_1272del deletion Creatine transporter deficiency [RCV001251109] ChrX:153694086..153694138 [GRCh38]
ChrX:152959541..152959593 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_005629.4(SLC6A8):c.1429_1430del (p.Ser477fs) deletion Intellectual disability [RCV001257719] ChrX:153694379..153694380 [GRCh38]
ChrX:152959834..152959835 [GRCh37]
ChrX:Xq28
pathogenic
NM_005629.4(SLC6A8):c.1249A>C (p.Ser417Arg) single nucleotide variant Creatine transporter deficiency [RCV001253759] ChrX:153694012 [GRCh38]
ChrX:152959467 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.942_944del (p.Phe315del) deletion Creatine transporter deficiency [RCV001263495] ChrX:153693290..153693292 [GRCh38]
ChrX:152958745..152958747 [GRCh37]
ChrX:Xq28
pathogenic
NM_005629.4(SLC6A8):c.803C>A (p.Pro268His) single nucleotide variant Inborn genetic diseases [RCV001267102] ChrX:153693066 [GRCh38]
ChrX:152958521 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.916T>C (p.Trp306Arg) single nucleotide variant not provided [RCV001311412] ChrX:153693266 [GRCh38]
ChrX:152958721 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1289_1299del (p.Leu430fs) deletion not provided [RCV001311413] ChrX:153694163..153694173 [GRCh38]
ChrX:152959618..152959628 [GRCh37]
ChrX:Xq28
likely pathogenic
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_005629.4(SLC6A8):c.199G>C (p.Gly67Arg) single nucleotide variant Creatine transporter deficiency [RCV001262444] ChrX:153688773 [GRCh38]
ChrX:152954228 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1260_1281del (p.Gly421fs) deletion not provided [RCV001268200] ChrX:153694135..153694156 [GRCh38]
ChrX:152959590..152959611 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:152941302-153055639)x3 copy number gain not provided [RCV001260060] ChrX:152941302..153055639 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:152631130-153240286)x3 copy number gain not provided [RCV001260062] ChrX:152631130..153240286 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.644A>G (p.Glu215Gly) single nucleotide variant Creatine transporter deficiency [RCV001264825] ChrX:153691553 [GRCh38]
ChrX:152957008 [GRCh37]
ChrX:Xq28
uncertain significance
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_005629.4(SLC6A8):c.1024ATC[1] (p.Ile343del) microsatellite Creatine transporter deficiency [RCV001327062] ChrX:153693468..153693470 [GRCh38]
ChrX:152958923..152958925 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.263-3C>T single nucleotide variant Creatine transporter deficiency [RCV001351160] ChrX:153690372 [GRCh38]
ChrX:152955827 [GRCh37]
ChrX:Xq28
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
GRCh37/hg19 Xq28(chrX:152649825-152988014) copy number gain Rett syndrome [RCV001291983] ChrX:152649825..152988014 [GRCh37]
ChrX:Xq28
pathogenic
NM_005629.4(SLC6A8):c.620G>A (p.Arg207Gln) single nucleotide variant Creatine transporter deficiency [RCV001299395] ChrX:153691529 [GRCh38]
ChrX:152956984 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1310A>C (p.Tyr437Ser) single nucleotide variant Creatine transporter deficiency [RCV001318611] ChrX:153694185 [GRCh38]
ChrX:152959640 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1009T>C (p.Cys337Arg) single nucleotide variant Creatine transporter deficiency [RCV001295163] ChrX:153693359 [GRCh38]
ChrX:152958814 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1301C>T (p.Pro434Leu) single nucleotide variant Creatine transporter deficiency [RCV001316165] ChrX:153694176 [GRCh38]
ChrX:152959631 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1646A>C (p.Asn549Thr) single nucleotide variant not provided [RCV001310750] ChrX:153694768 [GRCh38]
ChrX:152960223 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.51G>C (p.Glu17Asp) single nucleotide variant Creatine transporter deficiency [RCV001306071] ChrX:153688625 [GRCh38]
ChrX:152954080 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1089G>A (p.Leu363=) single nucleotide variant Creatine transporter deficiency [RCV001322752] ChrX:153693534 [GRCh38]
ChrX:152958989 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1196C>T (p.Ala399Val) single nucleotide variant Creatine transporter deficiency [RCV001343819] ChrX:153693959 [GRCh38]
ChrX:152959414 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1333A>T (p.Ile445Phe) single nucleotide variant Creatine transporter deficiency [RCV001303905] ChrX:153694208 [GRCh38]
ChrX:152959663 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1899T>C (p.Ser633=) single nucleotide variant not provided [RCV001310751] ChrX:153695205 [GRCh38]
ChrX:152960660 [GRCh37]
ChrX:Xq28
likely benign
NM_005629.4(SLC6A8):c.706A>T (p.Thr236Ser) single nucleotide variant Creatine transporter deficiency [RCV001330103] ChrX:153692036 [GRCh38]
ChrX:152957491 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1282G>A (p.Gly428Ser) single nucleotide variant Creatine transporter deficiency [RCV001344099] ChrX:153694157 [GRCh38]
ChrX:152959612 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1214T>C (p.Leu405Pro) single nucleotide variant Creatine transporter deficiency [RCV001319400] ChrX:153693977 [GRCh38]
ChrX:152959432 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.191_193del (p.Ser64del) deletion Creatine transporter deficiency [RCV001323525] ChrX:153688763..153688765 [GRCh38]
ChrX:152954218..152954220 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005629.4(SLC6A8):c.1768C>T (p.Arg590Cys) single nucleotide variant Creatine transporter deficiency [RCV001313930] ChrX:153695074 [GRCh38]
ChrX:152960529 [GRCh37]
ChrX:Xq28
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11055 AgrOrtholog
COSMIC SLC6A8 COSMIC
Ensembl Genes ENSG00000130821 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000253122 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000394742 UniProtKB/TrEMBL
  ENSP00000400463 UniProtKB/TrEMBL
  ENSP00000403041 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000403682 UniProtKB/TrEMBL
  ENSP00000404046 UniProtKB/TrEMBL
Ensembl Transcript ENST00000253122 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000413787 UniProtKB/TrEMBL
  ENST00000429147 UniProtKB/TrEMBL
  ENST00000430077 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000442457 UniProtKB/TrEMBL
  ENST00000457723 UniProtKB/TrEMBL
GTEx ENSG00000130821 GTEx
HGNC ID HGNC:11055 ENTREZGENE
Human Proteome Map SLC6A8 Human Proteome Map
InterPro Na/ntran_symport UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Na/ntran_symport_creatine UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SNS_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6535 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6535 ENTREZGENE
OMIM 300036 OMIM
  300352 OMIM
PANTHER PTHR11616 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SNF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35915 PharmGKB
PRINTS CRTTRANSPORT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NANEUSMPORT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE NA_NEUROTRAN_SYMP_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NA_NEUROTRAN_SYMP_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NA_NEUROTRAN_SYMP_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF161070 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A023JDV9_HUMAN UniProtKB/TrEMBL
  G3FM76_HUMAN UniProtKB/TrEMBL
  H7C0F5_HUMAN UniProtKB/TrEMBL
  H7C1I2_HUMAN UniProtKB/TrEMBL
  H7C222_HUMAN UniProtKB/TrEMBL
  H7C249_HUMAN UniProtKB/TrEMBL
  P48029 ENTREZGENE
  Q59EV7 ENTREZGENE, UniProtKB/TrEMBL
  SC6A8_HUMAN UniProtKB/Swiss-Prot
  X5D2U0_HUMAN UniProtKB/TrEMBL
  X5D7P6_HUMAN UniProtKB/TrEMBL
  X5D9C4 ENTREZGENE, UniProtKB/TrEMBL
  X5DR98_HUMAN UniProtKB/TrEMBL
UniProt Secondary B2KY47 UniProtKB/Swiss-Prot
  B4DIA3 UniProtKB/Swiss-Prot
  E9PFC0 UniProtKB/Swiss-Prot
  Q13032 UniProtKB/Swiss-Prot
  Q66I36 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 SLC6A8  solute carrier family 6 member 8  SLC6A8  solute carrier family 6 (neurotransmitter transporter), member 8  Symbol and/or name change 5135510 APPROVED
2013-07-23 SLC6A8  solute carrier family 6 (neurotransmitter transporter), member 8  SLC6A8  solute carrier family 6 (neurotransmitter transporter, creatine), member 8  Symbol and/or name change 5135510 APPROVED