SMS (spermine synthase) - Rat Genome Database

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Gene: SMS (spermine synthase) Homo sapiens
Analyze
Symbol: SMS
Name: spermine synthase
RGD ID: 1345734
HGNC Page HGNC:11123
Description: Predicted to enable spermine synthase activity. Predicted to be involved in spermine biosynthetic process. Predicted to act upstream of or within spermine metabolic process. Located in extracellular exosome. Implicated in anxiety disorder and syndromic X-linked intellectual disability Snyder type.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: MRSR; MRXSSR; Snyder-Robinson X-linked mental retardation syndrome; spermidine aminopropyltransferase; SPMSY; SpS; SRS
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: LOC100132039   LOC100419037   LOC642590   LOC646347   SMSP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X21,940,709 - 21,994,837 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX21,940,709 - 21,994,837 (+)Ensemblhg38GRCh38
GRCh37X21,958,827 - 22,012,955 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X21,868,763 - 21,922,876 (+)NCBIBuild 36Build 36hg18NCBI36
Build 34X21,718,498 - 21,772,611NCBI
CeleraX26,079,796 - 26,133,909 (+)NCBICelera
Cytogenetic MapXp22.11NCBI
HuRefX19,699,279 - 19,753,795 (+)NCBIHuRef
CHM1_1X21,989,118 - 22,043,385 (+)NCBICHM1_1
T2T-CHM13v2.0X21,524,038 - 21,578,161 (+)NCBIT2T-CHM13v2.0
JBrowse:




Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
17beta-estradiol  (ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-tribromophenol  (EXP)
2-hydroxypropanoic acid  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
6alpha-methylprednisolone  (EXP)
actinomycin D  (EXP)
Aflatoxin B2 alpha  (EXP)
alpha-Zearalanol  (ISO)
aristolochic acid A  (EXP)
arsenous acid  (EXP)
atrazine  (EXP)
azathioprine  (EXP)
benzo[a]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
Bisphenol B  (EXP)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlordecone  (ISO)
chloropicrin  (EXP)
DDE  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
diethylstilbestrol  (EXP)
ethanol  (ISO)
folic acid  (ISO)
furan  (ISO)
indometacin  (EXP,ISO)
isoniazide  (EXP)
ivermectin  (EXP)
methimazole  (ISO)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
N-nitrosodiethylamine  (ISO)
Nutlin-3  (EXP)
okadaic acid  (EXP)
oxaliplatin  (ISO)
paracetamol  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
PhIP  (ISO)
pirinixic acid  (ISO)
piroxicam  (EXP)
prednisolone  (EXP)
propiconazole  (ISO)
rac-lactic acid  (EXP)
sodium arsenite  (EXP)
sodium aurothiomalate  (EXP)
sunitinib  (EXP)
T-2 toxin  (EXP)
tetrahydropalmatine  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
triphenyl phosphate  (EXP,ISO)
triptonide  (ISO)
valproic acid  (EXP)
vancomycin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal facial shape  (IAGP)
Abnormal pinna morphology  (IAGP)
Abnormality of the Leydig cells  (IAGP)
Absent speech  (IAGP)
Anteverted nares  (IAGP)
Arachnodactyly  (IAGP)
Asymmetry of the ears  (IAGP)
Autism  (IAGP)
Bifid uvula  (IAGP)
Brachycephaly  (IAGP)
Broad-based gait  (IAGP)
Bulbous nose  (IAGP)
Camptodactyly  (IAGP)
Cerebral edema  (IAGP)
Cleft palate  (IAGP)
Cryptorchidism  (IAGP)
Cupped ear  (IAGP)
Decreased muscle mass  (IAGP)
Delayed speech and language development  (IAGP)
Dental crowding  (IAGP)
Difficulty standing  (IAGP)
Disproportionate tall stature  (IAGP)
Dysarthria  (IAGP)
Ectopic kidney  (IAGP)
EEG abnormality  (IAGP)
Everted lower lip vermilion  (IAGP)
Facial asymmetry  (IAGP)
Floppy infant  (IAGP)
Focal motor seizure  (IAGP)
Generalized hypotonia  (IAGP)
Generalized myoclonic seizure  (IAGP)
Global developmental delay  (IAGP)
High myopia  (IAGP)
High palate  (IAGP)
High, narrow palate  (IAGP)
Hoarse voice  (IAGP)
Hyperextensibility of the finger joints  (IAGP)
Hypernasal speech  (IAGP)
Hypertelorism  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Inability to walk  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, profound  (IAGP)
Involuntary movements  (IAGP)
Kyphoscoliosis  (IAGP)
Kyphosis  (IAGP)
Long face  (IAGP)
Long fingers  (IAGP)
Long hallux  (IAGP)
Long palm  (IAGP)
Long toe  (IAGP)
Low-set ears  (IAGP)
Mandibular prognathia  (IAGP)
Megalencephaly  (IAGP)
Myoclonus  (IAGP)
Narrow face  (IAGP)
Narrow mouth  (IAGP)
Narrow palm  (IAGP)
Osteoporosis  (IAGP)
Patchy hypo- and hyperpigmentation  (IAGP)
Pectus carinatum  (IAGP)
Pectus excavatum  (IAGP)
Prominent nasal bridge  (IAGP)
Proptosis  (IAGP)
Ptosis  (IAGP)
Recurrent fractures  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Short neck  (IAGP)
Short philtrum  (IAGP)
Short stature  (IAGP)
Single transverse palmar crease  (IAGP)
Slender toe  (IAGP)
Small earlobe  (IAGP)
Smooth philtrum  (IAGP)
Sparse eyebrow  (IAGP)
Synophrys  (IAGP)
Talipes equinovarus  (IAGP)
Tall stature  (IAGP)
Testicular atrophy  (IAGP)
Thick lower lip vermilion  (IAGP)
Thickened calvaria  (IAGP)
Thickened helices  (IAGP)
Thin bony cortex  (IAGP)
Unilateral ptosis  (IAGP)
Unsteady gait  (IAGP)
Upslanted palpebral fissure  (IAGP)
Vertebral compression fracture  (IAGP)
Webbed neck  (IAGP)
Wide intermamillary distance  (IAGP)
X-linked recessive inheritance  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Aminooxy analogues of spermidine as inhibitors of spermine synthase and substrates of hepatic polyamine acetylating activity. Eloranta TO, etal., J Biochem. 1990 Oct;108(4):593-8.
2. Association of polyaminergic loci with anxiety, mood disorders, and attempted suicide. Fiori LM, etal., PLoS One. 2010 Nov 30;5(11):e15146. doi: 10.1371/journal.pone.0015146.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. Hypusine Signaling Promotes Pulmonary Vascular Remodeling in Pulmonary Arterial Hypertension. Lemay SE, etal., Am J Respir Crit Care Med. 2024 Jun 1;209(11):1376-1391. doi: 10.1164/rccm.202305-0909OC.
5. S-adenosylmethionine in liver health, injury, and cancer. Lu SC and Mato JM, Physiol Rev. 2012 Oct;92(4):1515-42. doi: 10.1152/physrev.00047.2011.
6. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
7. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
8. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
9. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
10. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
11. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
12. A perspective of polyamine metabolism. Wallace HM, etal., Biochem J. 2003 Nov 15;376(Pt 1):1-14.
Additional References at PubMed
PMID:5823961   PMID:7546290   PMID:8826448   PMID:9299240   PMID:9847074   PMID:12477932   PMID:12665801   PMID:14508504   PMID:15489334   PMID:15592455   PMID:15772651   PMID:16169070  
PMID:18367445   PMID:18550699   PMID:19206178   PMID:19277733   PMID:19322201   PMID:20059804   PMID:21318891   PMID:21647366   PMID:21873635   PMID:21900206   PMID:22258329   PMID:22863883  
PMID:22939629   PMID:23376485   PMID:23408511   PMID:23455922   PMID:23468611   PMID:23533145   PMID:23696453   PMID:23805436   PMID:25921289   PMID:26344197   PMID:26496610   PMID:26761001  
PMID:28675297   PMID:29791485   PMID:29955894   PMID:30021884   PMID:30575818   PMID:30733278   PMID:30884312   PMID:31839598   PMID:32416067   PMID:32591507   PMID:32694731   PMID:32838743  
PMID:33845483   PMID:33961781   PMID:34189442   PMID:35256949   PMID:35509820   PMID:35831314   PMID:36114006   PMID:36215168   PMID:36634849   PMID:37071682   PMID:37827155   PMID:38043095  
PMID:38473716   PMID:38740758  


Genomics

Comparative Map Data
SMS
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X21,940,709 - 21,994,837 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX21,940,709 - 21,994,837 (+)Ensemblhg38GRCh38
GRCh37X21,958,827 - 22,012,955 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X21,868,763 - 21,922,876 (+)NCBIBuild 36Build 36hg18NCBI36
Build 34X21,718,498 - 21,772,611NCBI
CeleraX26,079,796 - 26,133,909 (+)NCBICelera
Cytogenetic MapXp22.11NCBI
HuRefX19,699,279 - 19,753,795 (+)NCBIHuRef
CHM1_1X21,989,118 - 22,043,385 (+)NCBICHM1_1
T2T-CHM13v2.0X21,524,038 - 21,578,161 (+)NCBIT2T-CHM13v2.0
Sms
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X156,226,847 - 156,275,283 (-)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX156,226,851 - 156,275,283 (-)EnsemblGRCm39 EnsemblGRCm39
GRCm38X157,443,851 - 157,492,287 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX157,443,855 - 157,492,287 (-)Ensemblmm10GRCm38
MGSCv37X153,881,886 - 153,929,978 (-)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv36X152,788,059 - 152,836,139 (-)NCBIMGSCv36mm8
CeleraX140,696,273 - 140,722,448 (-)NCBICelera
Cytogenetic MapXF4NCBI
cM MapX72.48NCBI
Sms
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X41,331,693 - 41,387,713 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 EnsemblX41,331,799 - 41,387,712 (+)EnsemblGRCr8
mRatBN7.2X37,516,949 - 37,572,657 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX37,516,931 - 37,570,822 (+)EnsemblmRatBN7.2
mRatBN7.2 Ensembl3142,943,684 - 142,945,346 (-)EnsemblmRatBN7.2
UTH_Rnor_SHR_UtxX38,715,556 - 38,768,732 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X42,182,753 - 42,235,926 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X39,867,459 - 39,920,628 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X40,363,646 - 40,415,110 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX40,363,646 - 40,415,109 (+)Ensemblrn6Rnor6.0
Rnor_5.0X40,674,244 - 40,725,968 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4X58,816,210 - 58,870,980 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
CeleraX38,144,381 - 38,195,833 (+)NCBICelera
Cytogenetic MapXq21NCBI
Sms
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555092,276,878 - 2,329,620 (+)Ensembl
ChiLan1.0NW_0049555092,277,501 - 2,328,612 (+)NCBIChiLan1.0ChiLan1.0
SMS
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X23,749,232 - 23,816,094 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X23,752,622 - 23,819,491 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X14,571,432 - 14,625,601 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X21,952,477 - 21,980,209 (+)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX21,949,830 - 21,980,209 (+)EnsemblpanPan2panpan1.1
SMS
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X17,749,020 - 17,803,351 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX17,749,530 - 17,802,999 (+)EnsemblcanFam3CanFam3.1
ROS_Cfam_1.0X17,724,469 - 17,762,827 (+)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX17,682,802 - 17,762,812 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X17,741,907 - 17,796,615 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X17,763,366 - 17,818,317 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X17,823,900 - 17,878,940 (+)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Sms
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X10,755,764 - 10,814,207 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366242,346,018 - 2,401,893 (-)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_0049366242,345,573 - 2,402,157 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SMS
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX18,118,256 - 18,169,390 (+)EnsemblsusScr11Sscrofa11.1
Sscrofa11.1X18,118,332 - 18,169,396 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X19,300,734 - 19,353,814 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SMS
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X20,418,435 - 20,475,227 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX20,418,494 - 20,476,276 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366605622,273,775 - 22,330,746 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sms
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248296,883,027 - 6,931,389 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_0046248296,883,018 - 6,931,646 (+)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in SMS
151 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004595.5(SMS):c.329+5G>A single nucleotide variant Syndromic X-linked intellectual disability Snyder type [RCV000012389] ChrX:21972576 [GRCh38]
ChrX:21990694 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_004595.5(SMS):c.166G>A (p.Gly56Ser) single nucleotide variant Inborn genetic diseases [RCV000210586]|Syndromic X-linked intellectual disability Snyder type [RCV000012390]|not provided [RCV000414369] ChrX:21967312 [GRCh38]
ChrX:21985430 [GRCh37]
ChrX:Xp22.11		 pathogenic|likely pathogenic
NM_004595.5(SMS):c.395T>G (p.Val132Gly) single nucleotide variant Syndromic X-linked intellectual disability Snyder type [RCV000012391] ChrX:21977126 [GRCh38]
ChrX:21995244 [GRCh37]
ChrX:Xp22.11		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1		 pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 Xp22.33-22.11(chrX:253129-23023165)x1 copy number loss See cases [RCV000052993] ChrX:253129..23023165 [GRCh38]
ChrX:169796..23041282 [GRCh37]
ChrX:109796..22951203 [NCBI36]
ChrX:Xp22.33-22.11		 pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
NM_004595.5(SMS):c.174T>A (p.Phe58Leu) single nucleotide variant Syndromic X-linked intellectual disability Snyder type [RCV000055902] ChrX:21971900 [GRCh38]
ChrX:21990018 [GRCh37]
ChrX:Xp22.11		 pathogenic|not provided
NM_004595.5(SMS):c.200G>A (p.Gly67Glu) single nucleotide variant Syndromic X-linked intellectual disability Snyder type [RCV000055903]|not provided [RCV003221798] ChrX:21971926 [GRCh38]
ChrX:21990044 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_004595.5(SMS):c.443A>G (p.Gln148Arg) single nucleotide variant Syndromic X-linked intellectual disability Snyder type [RCV000055905] ChrX:21977174 [GRCh38]
ChrX:21995292 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_004595.5(SMS):c.449T>C (p.Ile150Thr) single nucleotide variant Snyder Robinson syndrome [RCV000055906] ChrX:21977180 [GRCh38]
ChrX:21995298 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_004595.5(SMS):c.983A>C (p.Tyr328Ser) single nucleotide variant Snyder Robinson syndrome [RCV000055907] ChrX:21992634 [GRCh38]
ChrX:22010752 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_004595.5(SMS):c.104T>A (p.Met35Lys) single nucleotide variant not provided [RCV000081159] ChrX:21967250 [GRCh38]
ChrX:21985368 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.983A>G (p.Tyr328Cys) single nucleotide variant Syndromic X-linked intellectual disability Snyder type [RCV000074415] ChrX:21992634 [GRCh38]
ChrX:22010752 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_004595.5(SMS):c.1026A>C (p.Ser342=) single nucleotide variant Inborn genetic diseases [RCV002313027]|SMS-related disorder [RCV004535190]|Syndromic X-linked intellectual disability Snyder type [RCV000601014]|not provided [RCV000889845]|not specified [RCV000173807] ChrX:21992677 [GRCh38]
ChrX:22010795 [GRCh37]
ChrX:Xp22.11		 benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
NM_004595.5(SMS):c.569C>T (p.Thr190Ile) single nucleotide variant Inborn genetic diseases [RCV002314661]|not provided [RCV000930025]|not specified [RCV000179446] ChrX:21978023 [GRCh38]
ChrX:21996141 [GRCh37]
ChrX:Xp22.11		 benign|likely benign
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
NM_004595.5(SMS):c.978G>A (p.Ser326=) single nucleotide variant Inborn genetic diseases [RCV002316997]|not provided [RCV000173806] ChrX:21992629 [GRCh38]
ChrX:22010747 [GRCh37]
ChrX:Xp22.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
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 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1		 pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX: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 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1 copy number loss See cases [RCV000135299] ChrX:233335..37292980 [GRCh38]
ChrX:150002..37152232 [GRCh37]
ChrX:90002..37037153 [NCBI36]
ChrX:Xp22.33-21.1		 pathogenic
GRCh38/hg38 Xp22.2-22.11(chrX:15173626-23952585)x2 copy number gain See cases [RCV000134875] ChrX:15173626..23952585 [GRCh38]
ChrX:15191748..23970702 [GRCh37]
ChrX:15101669..23880623 [NCBI36]
ChrX:Xp22.2-22.11		 pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1 copy number loss See cases [RCV000135551] ChrX:10679..36186635 [GRCh38]
ChrX:60679..36202463 [GRCh37]
ChrX:679..36114673 [NCBI36]
ChrX:Xp22.33-21.1		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3		 pathogenic|likely benign
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23		 pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23		 pathogenic
GRCh38/hg38 Xp22.2-21.2(chrX:12254555-30410580)x1 copy number loss See cases [RCV000138069] ChrX:12254555..30410580 [GRCh38]
ChrX:12272674..30428697 [GRCh37]
ChrX:12182595..30338618 [NCBI36]
ChrX:Xp22.2-21.2		 pathogenic|likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1 copy number loss See cases [RCV000138019] ChrX:10701..37723318 [GRCh38]
ChrX:60701..37318587 [GRCh37]
ChrX:701..37467510 [NCBI36]
ChrX:Xp22.33-21.1		 pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3		 pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3		 pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-11.4(chrX:3909315-38682287)x3 copy number gain See cases [RCV000141261] ChrX:3909315..38682287 [GRCh38]
ChrX:3827356..38541541 [GRCh37]
ChrX:3837356..38426485 [NCBI36]
ChrX:Xp22.33-11.4		 uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX: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 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12		 pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1 copy number loss See cases [RCV000143496] ChrX:251879..35885004 [GRCh38]
ChrX:168546..35903121 [GRCh37]
ChrX:108546..35813042 [NCBI36]
ChrX:Xp22.33-21.1		 pathogenic
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_004595.5(SMS):c.330A>G (p.Arg110=) single nucleotide variant not specified [RCV000192724] ChrX:21977061 [GRCh38]
ChrX:21995179 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.714C>T (p.Gly238=) single nucleotide variant Inborn genetic diseases [RCV002315507]|not specified [RCV000194134] ChrX:21978930 [GRCh38]
ChrX:21997048 [GRCh37]
ChrX:Xp22.11		 likely benign|uncertain significance
NM_004595.5(SMS):c.699G>A (p.Met233Ile) single nucleotide variant not provided [RCV000179890] ChrX:21978915 [GRCh38]
ChrX:21997033 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.661-5C>T single nucleotide variant Inborn genetic diseases [RCV002372103]|not provided [RCV000179891] ChrX:21978872 [GRCh38]
ChrX:21996990 [GRCh37]
ChrX:Xp22.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:71267-35809046)x1 copy number loss See cases [RCV000240335] ChrX:71267..35809046 [GRCh37]
ChrX:Xp22.33-21.1		 pathogenic
GRCh37/hg19 Xp22.33-21.3(chrX:1378591-25940311)x2 copy number gain See cases [RCV000240441] ChrX:1378591..25940311 [GRCh37]
ChrX:Xp22.33-21.3		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25		 uncertain significance
NM_004595.5(SMS):c.638C>A (p.Pro213Gln) single nucleotide variant Inborn genetic diseases [RCV000622379] ChrX:21978092 [GRCh38]
ChrX:21996210 [GRCh37]
ChrX:Xp22.11		 likely pathogenic|uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_004595.5(SMS):c.661-4G>T single nucleotide variant not specified [RCV000417669] ChrX:21978873 [GRCh38]
ChrX:21996991 [GRCh37]
ChrX:Xp22.11		 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
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 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.12-22.11(chrX:21708594-22063592)x2 copy number gain See cases [RCV000512061] ChrX:21708594..22063592 [GRCh37]
ChrX:Xp22.12-22.11		 uncertain significance
NM_004595.5(SMS):c.831G>T (p.Leu277Phe) single nucleotide variant not provided [RCV000480904] ChrX:21984384 [GRCh38]
ChrX:22002502 [GRCh37]
ChrX:Xp22.11		 likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1		 pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1 copy number loss See cases [RCV000510590] ChrX:168546..37515849 [GRCh37]
ChrX:Xp22.33-21.1		 pathogenic
NM_004595.5(SMS):c.665A>T (p.Asp222Val) single nucleotide variant SMS-related disorder [RCV000509103]|not provided [RCV000522772] ChrX:21978881 [GRCh38]
ChrX:21996999 [GRCh37]
ChrX:Xp22.11		 likely pathogenic|not provided
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-35841052)x1 copy number loss See cases [RCV000510308] ChrX:168546..35841052 [GRCh37]
ChrX:Xp22.33-21.1		 pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-21.2(chrX:168546-31085327)x1 copy number loss See cases [RCV000511350] ChrX:168546..31085327 [GRCh37]
ChrX:Xp22.33-21.2		 pathogenic
GRCh37/hg19 Xp22.2-21.2(chrX:15290524-29747172)x2 copy number gain See cases [RCV000511443] ChrX:15290524..29747172 [GRCh37]
ChrX:Xp22.2-21.2		 likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.12-22.11(chrX:21708594-22054641)x3 copy number gain See cases [RCV000511611] ChrX:21708594..22054641 [GRCh37]
ChrX:Xp22.12-22.11		 uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3 copy number gain See cases [RCV000512204] ChrX:168546..24780527 [GRCh37]
ChrX:Xp22.33-22.11		 pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
NM_004595.5(SMS):c.820A>G (p.Ile274Val) single nucleotide variant Inborn genetic diseases [RCV002316156] ChrX:21984373 [GRCh38]
ChrX:22002491 [GRCh37]
ChrX:Xp22.11		 uncertain significance
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23		 pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31		 pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1 copy number loss not provided [RCV000684183] ChrX:168546..23785738 [GRCh37]
ChrX:Xp22.33-22.11		 pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3		 pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
NM_004595.5(SMS):c.789C>T (p.Tyr263=) single nucleotide variant Inborn genetic diseases [RCV002313671] ChrX:21984342 [GRCh38]
ChrX:22002460 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_004595.5(SMS):c.114G>A (p.Ser38=) single nucleotide variant Inborn genetic diseases [RCV002318121]|Syndromic X-linked intellectual disability Snyder type [RCV002507258]|not provided [RCV000934691] ChrX:21967260 [GRCh38]
ChrX:21985378 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_004595.5(SMS):c.561A>G (p.Glu187=) single nucleotide variant Inborn genetic diseases [RCV002318881]|SMS-related disorder [RCV004540026]|not provided [RCV000918745] ChrX:21978015 [GRCh38]
ChrX:21996133 [GRCh37]
ChrX:Xp22.11		 benign|likely benign
NM_004595.5(SMS):c.505+3A>G single nucleotide variant History of neurodevelopmental disorder [RCV000720966]|not provided [RCV001302433] ChrX:21977239 [GRCh38]
ChrX:21995357 [GRCh37]
ChrX:Xp22.11		 uncertain significance
Single allele duplication Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
Single allele duplication Autism [RCV000754363] ChrX:10000..22474705 [GRCh38]
ChrX:Xp22.33-22.11		 likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 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
NM_004595.5(SMS):c.581T>G (p.Val194Gly) single nucleotide variant Smith-Magenis syndrome [RCV000760247] ChrX:21978035 [GRCh38]
ChrX:21996153 [GRCh37]
ChrX:Xp22.11		 likely pathogenic
GRCh37/hg19 Xp22.11(chrX:21956780-21977221)x1 copy number loss not provided [RCV001007273] ChrX:21956780..21977221 [GRCh37]
ChrX:Xp22.11		 uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23		 pathogenic
NM_004595.5(SMS):c.171C>T (p.Ser57=) single nucleotide variant Inborn genetic diseases [RCV002399993]|not provided [RCV000902528] ChrX:21971897 [GRCh38]
ChrX:21990015 [GRCh37]
ChrX:Xp22.11		 benign
NC_000023.10:g.(?_21990015)_(22292386_?)del deletion not provided [RCV001031815] ChrX:21990015..22292386 [GRCh37]
ChrX:Xp22.11		 pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392) copy number gain not provided [RCV000767802] ChrX:801301..23768392 [GRCh37]
ChrX:Xp22.33-22.11		 pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22		 pathogenic
NM_004595.5(SMS):c.45C>G (p.Ala15=) single nucleotide variant not provided [RCV000975280] ChrX:21940869 [GRCh38]
ChrX:21958987 [GRCh37]
ChrX:Xp22.11		 likely benign
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1 copy number loss not provided [RCV000845671] ChrX:168546..38054739 [GRCh37]
ChrX:Xp22.33-11.4		 pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2 copy number gain not provided [RCV000849766] ChrX:13962918..22148232 [GRCh37]
ChrX:Xp22.2-22.11		 pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2 copy number gain not provided [RCV000849768] ChrX:13962918..22148232 [GRCh37]
ChrX:Xp22.2-22.11		 pathogenic
NM_004595.5(SMS):c.388C>T (p.Arg130Cys) single nucleotide variant Syndromic X-linked intellectual disability Snyder type [RCV001007564] ChrX:21977119 [GRCh38]
ChrX:21995237 [GRCh37]
ChrX:Xp22.11		 pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1		 pathogenic
GRCh37/hg19 Xp22.11(chrX:21999106-22054641)x2 copy number gain not provided [RCV000846248] ChrX:21999106..22054641 [GRCh37]
ChrX:Xp22.11		 uncertain significance
GRCh37/hg19 Xp22.11(chrX:21999106-22054641)x2 copy number gain not provided [RCV000846605] ChrX:21999106..22054641 [GRCh37]
ChrX:Xp22.11		 uncertain significance
GRCh37/hg19 Xp22.12-21.1(chrX:20925922-35511818)x1 copy number loss not provided [RCV000847678] ChrX:20925922..35511818 [GRCh37]
ChrX:Xp22.12-21.1		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3 copy number gain not provided [RCV000849574] ChrX:2190434..23795839 [GRCh37]
ChrX:Xp22.33-22.11		 pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1 copy number loss not provided [RCV001007559] ChrX:168546..34753512 [GRCh37]
ChrX:Xp22.33-21.1		 pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1 copy number loss not provided [RCV001007223] ChrX:537158..22883547 [GRCh37]
ChrX:Xp22.33-22.11		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
NM_004595.5(SMS):c.799G>A (p.Gly267Arg) single nucleotide variant Syndromic X-linked intellectual disability Snyder type [RCV000985012] ChrX:21984352 [GRCh38]
ChrX:22002470 [GRCh37]
ChrX:Xp22.11		 uncertain significance
GRCh37/hg19 Xp22.11(chrX:21999106-22054641)x2 copy number gain not provided [RCV000846247] ChrX:21999106..22054641 [GRCh37]
ChrX:Xp22.11		 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
NM_004595.5(SMS):c.328C>G (p.Arg110Gly) single nucleotide variant Syndromic X-linked intellectual disability Snyder type [RCV001250132] ChrX:21972570 [GRCh38]
ChrX:21990688 [GRCh37]
ChrX:Xp22.11		 likely pathogenic
NM_004595.5(SMS):c.874T>C (p.Trp292Arg) single nucleotide variant not provided [RCV003232013] ChrX:21985152 [GRCh38]
ChrX:22003270 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.330-211C>T single nucleotide variant not provided [RCV001659478] ChrX:21976850 [GRCh38]
ChrX:21994968 [GRCh37]
ChrX:Xp22.11		 benign
NM_004595.5(SMS):c.329+151A>G single nucleotide variant not provided [RCV001534121] ChrX:21972722 [GRCh38]
ChrX:21990840 [GRCh37]
ChrX:Xp22.11		 benign
NM_004595.5(SMS):c.1033A>G (p.Ile345Val) single nucleotide variant not provided [RCV001561696] ChrX:21992684 [GRCh38]
ChrX:22010802 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.750+233dup duplication not provided [RCV001682295] ChrX:21979188..21979189 [GRCh38]
ChrX:21997306..21997307 [GRCh37]
ChrX:Xp22.11		 benign
NM_004595.5(SMS):c.-92A>G single nucleotide variant not provided [RCV001657364] ChrX:21940733 [GRCh38]
ChrX:21958851 [GRCh37]
ChrX:Xp22.11		 benign
NM_004595.5(SMS):c.329+177A>G single nucleotide variant not provided [RCV001691611] ChrX:21972748 [GRCh38]
ChrX:21990866 [GRCh37]
ChrX:Xp22.11		 benign
NM_004595.5(SMS):c.908_911del (p.Met303fs) deletion Syndromic X-linked intellectual disability Snyder type [RCV000853623] ChrX:21985184..21985187 [GRCh38]
ChrX:22003302..22003305 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_004595.5(SMS):c.63C>T (p.Thr21=) single nucleotide variant not provided [RCV000976024] ChrX:21967209 [GRCh38]
ChrX:21985327 [GRCh37]
ChrX:Xp22.11		 benign
NM_004595.5(SMS):c.13C>G (p.Arg5Gly) single nucleotide variant Syndromic X-linked intellectual disability Snyder type [RCV001169877] ChrX:21940837 [GRCh38]
ChrX:21958955 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NC_000023.11:g.(?_21977061)_(22077702_?)del deletion not provided [RCV001031635] ChrX:21995179..22095820 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_004595.5(SMS):c.3G>A (p.Met1Ile) single nucleotide variant not provided [RCV000999350] ChrX:21940827 [GRCh38]
ChrX:21958945 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.1045C>A (p.Pro349Thr) single nucleotide variant not provided [RCV001553087] ChrX:21992696 [GRCh38]
ChrX:22010814 [GRCh37]
ChrX:Xp22.11		 likely pathogenic
NM_004595.5(SMS):c.171-162C>A single nucleotide variant not provided [RCV001656242] ChrX:21971735 [GRCh38]
ChrX:21989853 [GRCh37]
ChrX:Xp22.11		 benign
NM_004595.5(SMS):c.865+175A>G single nucleotide variant not provided [RCV001656112] ChrX:21984593 [GRCh38]
ChrX:22002711 [GRCh37]
ChrX:Xp22.11		 benign
NM_004595.5(SMS):c.50-108_50-89del deletion not provided [RCV001537228] ChrX:21967074..21967093 [GRCh38]
ChrX:21985192..21985211 [GRCh37]
ChrX:Xp22.11		 benign
NM_004595.5(SMS):c.329+175T>C single nucleotide variant not provided [RCV001597917] ChrX:21972746 [GRCh38]
ChrX:21990864 [GRCh37]
ChrX:Xp22.11		 benign
NM_004595.5(SMS):c.329+153T>C single nucleotide variant not provided [RCV001617603] ChrX:21972724 [GRCh38]
ChrX:21990842 [GRCh37]
ChrX:Xp22.11		 benign
NM_004595.5(SMS):c.50-103_50-96del deletion not provided [RCV001686905] ChrX:21967086..21967093 [GRCh38]
ChrX:21985204..21985211 [GRCh37]
ChrX:Xp22.11		 benign
NM_004595.5(SMS):c.50-321G>A single nucleotide variant not provided [RCV001684074] ChrX:21966875 [GRCh38]
ChrX:21984993 [GRCh37]
ChrX:Xp22.11		 benign
NM_004595.5(SMS):c.265-170G>C single nucleotide variant not provided [RCV001598953] ChrX:21972337 [GRCh38]
ChrX:21990455 [GRCh37]
ChrX:Xp22.11		 benign
NM_004595.5(SMS):c.865+320G>A single nucleotide variant not provided [RCV001636341] ChrX:21984738 [GRCh38]
ChrX:22002856 [GRCh37]
ChrX:Xp22.11		 benign
NM_004595.5(SMS):c.410A>G (p.Asp137Gly) single nucleotide variant Syndromic X-linked intellectual disability Snyder type [RCV001171510] ChrX:21977141 [GRCh38]
ChrX:21995259 [GRCh37]
ChrX:Xp22.11		 likely pathogenic
NM_004595.5(SMS):c.152A>G (p.Tyr51Cys) single nucleotide variant Syndromic X-linked intellectual disability Snyder type [RCV001580277]|not provided [RCV001773773] ChrX:21967298 [GRCh38]
ChrX:21985416 [GRCh37]
ChrX:Xp22.11		 likely pathogenic|uncertain significance
NM_004595.5(SMS):c.50-139TTTA[10] microsatellite not provided [RCV001725762] ChrX:21967056..21967057 [GRCh38]
ChrX:21985174..21985175 [GRCh37]
ChrX:Xp22.11		 benign
NM_004595.5(SMS):c.50-103_50-100del deletion not provided [RCV001684335] ChrX:21967090..21967093 [GRCh38]
ChrX:21985208..21985211 [GRCh37]
ChrX:Xp22.11		 benign
NM_004595.5(SMS):c.170+109C>A single nucleotide variant not provided [RCV001725763] ChrX:21967425 [GRCh38]
ChrX:21985543 [GRCh37]
ChrX:Xp22.11		 benign
NM_004595.5(SMS):c.329+64G>A single nucleotide variant not provided [RCV001681050] ChrX:21972635 [GRCh38]
ChrX:21990753 [GRCh37]
ChrX:Xp22.11		 benign
NM_004595.5(SMS):c.866-32T>C single nucleotide variant Syndromic X-linked intellectual disability Snyder type [RCV001810214]|not provided [RCV001669824] ChrX:21985112 [GRCh38]
ChrX:22003230 [GRCh37]
ChrX:Xp22.11		 benign
NM_004595.5(SMS):c.905C>T (p.Ser302Leu) single nucleotide variant Intellectual disability [RCV001249470] ChrX:21985183 [GRCh38]
ChrX:22003301 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_004595.5(SMS):c.844A>G (p.Ile282Val) single nucleotide variant not provided [RCV001041036] ChrX:21984397 [GRCh38]
ChrX:22002515 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.872C>A (p.Thr291Lys) single nucleotide variant Syndromic X-linked intellectual disability Snyder type [RCV001197950]|not provided [RCV003770213] ChrX:21985150 [GRCh38]
ChrX:22003268 [GRCh37]
ChrX:Xp22.11		 uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
NM_004595.5(SMS):c.608G>A (p.Gly203Asp) single nucleotide variant Syndromic X-linked intellectual disability Snyder type [RCV001255181] ChrX:21978062 [GRCh38]
ChrX:21996180 [GRCh37]
ChrX:Xp22.11		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number gain 46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_004595.5(SMS):c.233G>C (p.Gly78Ala) single nucleotide variant not provided [RCV004597621] ChrX:21971959 [GRCh38]
ChrX:21990077 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.1019A>G (p.Glu340Gly) single nucleotide variant Inborn genetic diseases [RCV002368110]|Syndromic X-linked intellectual disability Snyder type [RCV001329289] ChrX:21992670 [GRCh38]
ChrX:22010788 [GRCh37]
ChrX:Xp22.11		 likely benign|uncertain significance
NM_004595.5(SMS):c.350G>T (p.Gly117Val) single nucleotide variant not provided [RCV001311824] ChrX:21977081 [GRCh38]
ChrX:21995199 [GRCh37]
ChrX:Xp22.11		 likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
NM_004595.5(SMS):c.587T>C (p.Ile196Thr) single nucleotide variant Syndromic X-linked intellectual disability Snyder type [RCV001310252] ChrX:21978041 [GRCh38]
ChrX:21996159 [GRCh37]
ChrX:Xp22.11		 likely pathogenic
NM_004595.5(SMS):c.330-10C>G single nucleotide variant not provided [RCV001289229] ChrX:21977051 [GRCh38]
ChrX:21995169 [GRCh37]
ChrX:Xp22.11		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NC_000023.10:g.(?_21958943)_(22208619_?)del deletion not provided [RCV001384399] ChrX:21958943..22208619 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_004595.5(SMS):c.335C>T (p.Pro112Leu) single nucleotide variant Inborn genetic diseases [RCV002568187]|Syndromic X-linked intellectual disability Snyder type [RCV004579577]|not provided [RCV001531137] ChrX:21977066 [GRCh38]
ChrX:21995184 [GRCh37]
ChrX:Xp22.11		 pathogenic|uncertain significance
NM_004595.5(SMS):c.535C>T (p.Arg179Trp) single nucleotide variant not provided [RCV001531138] ChrX:21977989 [GRCh38]
ChrX:21996107 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.170+30C>T single nucleotide variant Syndromic X-linked intellectual disability Snyder type [RCV001810298]|not provided [RCV001725761] ChrX:21967346 [GRCh38]
ChrX:21985464 [GRCh37]
ChrX:Xp22.11		 benign
NM_004595.5(SMS):c.170+302A>C single nucleotide variant not provided [RCV001693742] ChrX:21967618 [GRCh38]
ChrX:21985736 [GRCh37]
ChrX:Xp22.11		 benign
NM_004595.5(SMS):c.750+201C>G single nucleotide variant not provided [RCV001536576] ChrX:21979167 [GRCh38]
ChrX:21997285 [GRCh37]
ChrX:Xp22.11		 benign
NM_004595.5(SMS):c.1098del (p.Ter367GluextTer?) deletion not provided [RCV003238423] ChrX:21994346 [GRCh38]
ChrX:22012464 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.625G>C (p.Val209Leu) single nucleotide variant not provided [RCV001758136] ChrX:21978079 [GRCh38]
ChrX:21996197 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.979C>A (p.Leu327Ile) single nucleotide variant not provided [RCV001771078] ChrX:21992630 [GRCh38]
ChrX:22010748 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NC_000023.11:g.21940651dup duplication not provided [RCV001762837] ChrX:21940650..21940651 [GRCh38]
ChrX:21958768..21958769 [GRCh37]
ChrX:Xp22.11		 benign
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789) copy number loss Turner syndrome [RCV002280669] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22		 pathogenic
NM_004595.5(SMS):c.997G>C (p.Gly333Arg) single nucleotide variant Inborn genetic diseases [RCV002386572]|Syndromic X-linked intellectual disability Snyder type [RCV002478035]|not provided [RCV001806937] ChrX:21992648 [GRCh38]
ChrX:22010766 [GRCh37]
ChrX:Xp22.11		 uncertain significance
GRCh37/hg19 Xp22.12-22.11(chrX:20760624-22571267)x2 copy number gain not provided [RCV001827761] ChrX:20760624..22571267 [GRCh37]
ChrX:Xp22.12-22.11		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NC_000023.10:g.(?_21755681)_(22266301_?)del deletion not provided [RCV001870831] ChrX:21755681..22266301 [GRCh37]
ChrX:Xp22.12-22.11		 pathogenic
NM_004595.5(SMS):c.746A>G (p.Tyr249Cys) single nucleotide variant not provided [RCV001837703] ChrX:21978962 [GRCh38]
ChrX:21997080 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.865+2T>C single nucleotide variant Syndromic X-linked intellectual disability Snyder type [RCV002052168] ChrX:21984420 [GRCh38]
ChrX:22002538 [GRCh37]
ChrX:Xp22.11		 likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV001834509] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_004595.5(SMS):c.319C>T (p.Arg107Trp) single nucleotide variant Developmental disorder [RCV001843773] ChrX:21972561 [GRCh38]
ChrX:21990679 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NC_000023.10:g.(?_22012410)_(22151761_?)del deletion not provided [RCV001946931] ChrX:22012410..22151761 [GRCh37]
ChrX:Xp22.11		 pathogenic
NC_000023.10:g.(?_21958943)_(22051261_?)del deletion not provided [RCV001942138] ChrX:21958943..22051261 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_004595.5(SMS):c.505A>G (p.Asn169Asp) single nucleotide variant not provided [RCV001992106] ChrX:21977236 [GRCh38]
ChrX:21995354 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NC_000023.10:g.(?_21985294)_(22196513_?)del deletion not provided [RCV001972444] ChrX:21985294..22196513 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_004595.5(SMS):c.329G>A (p.Arg110Gln) single nucleotide variant Syndromic X-linked intellectual disability Snyder type [RCV002243469]|not provided [RCV002034826] ChrX:21972571 [GRCh38]
ChrX:21990689 [GRCh37]
ChrX:Xp22.11		 pathogenic|uncertain significance
NM_004595.5(SMS):c.264+105A>G single nucleotide variant not provided [RCV002245107] ChrX:21972095 [GRCh38]
ChrX:21990213 [GRCh37]
ChrX:Xp22.11		 likely benign
GRCh38/hg38 Xp22.12-22.11(chrX:21743750-22114586)x3 copy number gain Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV004785221] ChrX:21743750..22114586 [GRCh38]
ChrX:Xp22.12-22.11		 pathogenic
NM_004595.5(SMS):c.170+3G>C single nucleotide variant Syndromic X-linked intellectual disability Snyder type [RCV004784937] ChrX:21967319 [GRCh38]
ChrX:21985437 [GRCh37]
ChrX:Xp22.11		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
Single allele complex Turner syndrome [RCV002280670] ChrX:590376..56315041 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304) copy number loss Turner syndrome [RCV002280671] ChrX:168546..57841304 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
NM_004595.5(SMS):c.742T>G (p.Cys248Gly) single nucleotide variant not provided [RCV002291832] ChrX:21978958 [GRCh38]
ChrX:21997076 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.339C>T (p.Pro113=) single nucleotide variant Inborn genetic diseases [RCV002451990] ChrX:21977070 [GRCh38]
ChrX:21995188 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_004595.5(SMS):c.875G>T (p.Trp292Leu) single nucleotide variant not provided [RCV002265158] ChrX:21985153 [GRCh38]
ChrX:22003271 [GRCh37]
ChrX:Xp22.11		 likely pathogenic|uncertain significance
NM_004595.5(SMS):c.136G>A (p.Gly46Ser) single nucleotide variant not provided [RCV002267326] ChrX:21967282 [GRCh38]
ChrX:21985400 [GRCh37]
ChrX:Xp22.11		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) copy number gain Klinefelter syndrome [RCV003236730] ChrX:200855..155240074 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 copy number loss See cases [RCV002286357] ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 copy number gain Klinefelter syndrome [RCV002282732] ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_004595.5(SMS):c.698T>C (p.Met233Thr) single nucleotide variant not provided [RCV002474258] ChrX:21978914 [GRCh38]
ChrX:21997032 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.50-139TTTA[8] microsatellite not provided [RCV002469870] ChrX:21967057..21967060 [GRCh38]
ChrX:21985175..21985178 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_004595.5(SMS):c.685T>G (p.Cys229Gly) single nucleotide variant not provided [RCV003128901] ChrX:21978901 [GRCh38]
ChrX:21997019 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.1061+4T>C single nucleotide variant Inborn genetic diseases [RCV002407785] ChrX:21992716 [GRCh38]
ChrX:22010834 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.843A>G (p.Pro281=) single nucleotide variant Inborn genetic diseases [RCV002445927]|not provided [RCV005097237] ChrX:21984396 [GRCh38]
ChrX:22002514 [GRCh37]
ChrX:Xp22.11		 benign
NM_004595.5(SMS):c.773C>T (p.Pro258Leu) single nucleotide variant Inborn genetic diseases [RCV002400765] ChrX:21984326 [GRCh38]
ChrX:22002444 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.597T>G (p.Gly199=) single nucleotide variant Inborn genetic diseases [RCV002356143] ChrX:21978051 [GRCh38]
ChrX:21996169 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_004595.5(SMS):c.603C>T (p.Asp201=) single nucleotide variant Inborn genetic diseases [RCV002358216] ChrX:21978057 [GRCh38]
ChrX:21996175 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_004595.5(SMS):c.42C>T (p.Gly14=) single nucleotide variant Inborn genetic diseases [RCV002331865]|SMS-related disorder [RCV004725232] ChrX:21940866 [GRCh38]
ChrX:21958984 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_004595.5(SMS):c.804A>G (p.Arg268=) single nucleotide variant Inborn genetic diseases [RCV002412444] ChrX:21984357 [GRCh38]
ChrX:22002475 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_004595.5(SMS):c.1096C>T (p.Pro366Ser) single nucleotide variant Inborn genetic diseases [RCV002430666] ChrX:21994346 [GRCh38]
ChrX:22012464 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.852G>A (p.Thr284=) single nucleotide variant Inborn genetic diseases [RCV002414431]|SMS-related disorder [RCV004736166] ChrX:21984405 [GRCh38]
ChrX:22002523 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_004595.5(SMS):c.700C>T (p.Arg234Ter) single nucleotide variant Inborn genetic diseases [RCV002752361]|Syndromic X-linked intellectual disability Snyder type [RCV003333236] ChrX:21978916 [GRCh38]
ChrX:21997034 [GRCh37]
ChrX:Xp22.11		 pathogenic|likely pathogenic
NM_004595.5(SMS):c.865+12dup duplication not provided [RCV002993898] ChrX:21984423..21984424 [GRCh38]
ChrX:22002541..22002542 [GRCh37]
ChrX:Xp22.11		 benign
NM_004595.5(SMS):c.697A>G (p.Met233Val) single nucleotide variant not provided [RCV002512399] ChrX:21978913 [GRCh38]
ChrX:21997031 [GRCh37]
ChrX:Xp22.11		 likely pathogenic
NM_004595.5(SMS):c.107C>T (p.Ala36Val) single nucleotide variant Inborn genetic diseases [RCV002688593] ChrX:21967253 [GRCh38]
ChrX:21985371 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_004595.5(SMS):c.265-9T>G single nucleotide variant not provided [RCV002591016] ChrX:21972498 [GRCh38]
ChrX:21990616 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_004595.5(SMS):c.264+3C>G single nucleotide variant Inborn genetic diseases [RCV002854272] ChrX:21971993 [GRCh38]
ChrX:21990111 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.1062-19T>A single nucleotide variant not provided [RCV002810101] ChrX:21994293 [GRCh38]
ChrX:22012411 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_004595.5(SMS):c.335C>A (p.Pro112Gln) single nucleotide variant Syndromic X-linked intellectual disability Snyder type [RCV003153129] ChrX:21977066 [GRCh38]
ChrX:21995184 [GRCh37]
ChrX:Xp22.11		 likely pathogenic|uncertain significance
NM_004595.5(SMS):c.310A>T (p.Ser104Cys) single nucleotide variant not provided [RCV004780929] ChrX:21972552 [GRCh38]
ChrX:21990670 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.382G>A (p.Asp128Asn) single nucleotide variant not provided [RCV003225442] ChrX:21977113 [GRCh38]
ChrX:21995231 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.564T>G (p.Asp188Glu) single nucleotide variant Inborn genetic diseases [RCV003211164] ChrX:21978018 [GRCh38]
ChrX:21996136 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.674T>C (p.Val225Ala) single nucleotide variant Syndromic X-linked intellectual disability Snyder type [RCV003225648] ChrX:21978890 [GRCh38]
ChrX:21997008 [GRCh37]
ChrX:Xp22.11		 likely pathogenic
NM_004595.5(SMS):c.113C>T (p.Ser38Leu) single nucleotide variant Syndromic X-linked intellectual disability Snyder type [RCV003138546] ChrX:21967259 [GRCh38]
ChrX:21985377 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.289A>G (p.Met97Val) single nucleotide variant Syndromic X-linked intellectual disability Snyder type [RCV003138547] ChrX:21972531 [GRCh38]
ChrX:21990649 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.1061+2T>C single nucleotide variant Syndromic X-linked intellectual disability Snyder type [RCV003138549] ChrX:21992714 [GRCh38]
ChrX:22010832 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.261C>G (p.Asp87Glu) single nucleotide variant Syndromic X-linked intellectual disability Snyder type [RCV003138550] ChrX:21971987 [GRCh38]
ChrX:21990105 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.735A>T (p.Lys245Asn) single nucleotide variant not provided [RCV003323259] ChrX:21978951 [GRCh38]
ChrX:21997069 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.49+250C>A single nucleotide variant not provided [RCV003327287] ChrX:21941123 [GRCh38]
ChrX:21959241 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_004595.5(SMS):c.741C>G (p.Asp247Glu) single nucleotide variant Inborn genetic diseases [RCV003356445] ChrX:21978957 [GRCh38]
ChrX:21997075 [GRCh37]
ChrX:Xp22.11		 uncertain significance
GRCh37/hg19 Xp22.33-21.2(chrX:168547-30774453)x2 copy number gain not provided [RCV003483939] ChrX:168547..30774453 [GRCh37]
ChrX:Xp22.33-21.2		 pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1 copy number loss not provided [RCV003483407] ChrX:2696762..53113314 [GRCh37]
ChrX:Xp22.33-11.22		 pathogenic
GRCh37/hg19 Xp22.13-22.11(chrX:18411391-22528403)x3 copy number gain not provided [RCV003485279] ChrX:18411391..22528403 [GRCh37]
ChrX:Xp22.13-22.11		 uncertain significance
NM_004595.5(SMS):c.1081T>C (p.Trp361Arg) single nucleotide variant not provided [RCV003442362] ChrX:21994331 [GRCh38]
ChrX:22012449 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.758T>G (p.Ile253Arg) single nucleotide variant SMS-related disorder [RCV004531650] ChrX:21984311 [GRCh38]
ChrX:22002429 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.182T>C (p.Leu61Ser) single nucleotide variant not provided [RCV003442442] ChrX:21971908 [GRCh38]
ChrX:21990026 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.13C>T (p.Arg5Trp) single nucleotide variant SMS-related disorder [RCV004531723] ChrX:21940837 [GRCh38]
ChrX:21958955 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.620A>C (p.Glu207Ala) single nucleotide variant SMS-related disorder [RCV004529293] ChrX:21978074 [GRCh38]
ChrX:21996192 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.200G>T (p.Gly67Val) single nucleotide variant SMS-related disorder [RCV004527931] ChrX:21971926 [GRCh38]
ChrX:21990044 [GRCh37]
ChrX:Xp22.11		 likely pathogenic|uncertain significance
NM_004595.5(SMS):c.381C>T (p.Ala127=) single nucleotide variant not provided [RCV003430439] ChrX:21977112 [GRCh38]
ChrX:21995230 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_004595.5(SMS):c.111G>T (p.Glu37Asp) single nucleotide variant SMS-related disorder [RCV004529836] ChrX:21967257 [GRCh38]
ChrX:21985375 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.49+203G>A single nucleotide variant not provided [RCV003430438] ChrX:21941076 [GRCh38]
ChrX:21959194 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_004595.5(SMS):c.238G>A (p.Ala80Thr) single nucleotide variant not provided [RCV003441499] ChrX:21971964 [GRCh38]
ChrX:21990082 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.170+14A>G single nucleotide variant not provided [RCV003723569] ChrX:21967330 [GRCh38]
ChrX:21985448 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_004595.5(SMS):c.1061+14G>A single nucleotide variant not provided [RCV003837345] ChrX:21992726 [GRCh38]
ChrX:22010844 [GRCh37]
ChrX:Xp22.11		 benign
NM_004595.5(SMS):c.426C>T (p.Asp142=) single nucleotide variant not provided [RCV003728807] ChrX:21977157 [GRCh38]
ChrX:21995275 [GRCh37]
ChrX:Xp22.11		 benign
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114) copy number loss not specified [RCV003986240] ChrX:168546..58364114 [GRCh37]
ChrX:Xp22.33-11.1		 pathogenic
NM_004595.5(SMS):c.790G>T (p.Ala264Ser) single nucleotide variant not provided [RCV003677772] ChrX:21984343 [GRCh38]
ChrX:22002461 [GRCh37]
ChrX:Xp22.11		 uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170) copy number loss not specified [RCV003986200] ChrX:168546..55653170 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
NM_004595.5(SMS):c.1044C>A (p.Val348=) single nucleotide variant not provided [RCV004546336] ChrX:21992695 [GRCh38]
ChrX:22010813 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_004595.5(SMS):c.977C>T (p.Ser326Leu) single nucleotide variant not provided [RCV003885590] ChrX:21992628 [GRCh38]
ChrX:22010746 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.40G>C (p.Gly14Arg) single nucleotide variant not provided [RCV003885058] ChrX:21940864 [GRCh38]
ChrX:21958982 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.661-1C>T single nucleotide variant SMS-related disorder [RCV004544192] ChrX:21978876 [GRCh38]
ChrX:21996994 [GRCh37]
ChrX:Xp22.11		 likely pathogenic
NM_004595.5(SMS):c.936T>C (p.Tyr312=) single nucleotide variant SMS-related disorder [RCV004537093] ChrX:21985214 [GRCh38]
ChrX:22003332 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_004595.5(SMS):c.1020A>G (p.Glu340=) single nucleotide variant SMS-related disorder [RCV004543936] ChrX:21992671 [GRCh38]
ChrX:22010789 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_004595.5(SMS):c.966A>C (p.Thr322=) single nucleotide variant SMS-related disorder [RCV004539309] ChrX:21992617 [GRCh38]
ChrX:22010735 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_004595.5(SMS):c.301A>G (p.Ser101Gly) single nucleotide variant Inborn genetic diseases [RCV004462097] ChrX:21972543 [GRCh38]
ChrX:21990661 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_004595.5(SMS):c.641_643del (p.Lys214del) deletion Syndromic X-linked intellectual disability Snyder type [RCV003991252] ChrX:21978094..21978096 [GRCh38]
ChrX:21996212..21996214 [GRCh37]
ChrX:Xp22.11		 uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2 copy number gain Klinefelter syndrome [RCV004579655] ChrX:2757837..156030895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
NM_004595.5(SMS):c.369C>T (p.Tyr123=) single nucleotide variant not provided [RCV004575157] ChrX:21977100 [GRCh38]
ChrX:21995218 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_004595.5(SMS):c.727A>G (p.Asn243Asp) single nucleotide variant not provided [RCV004575888] ChrX:21978943 [GRCh38]
ChrX:21997061 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.946G>A (p.Gly316Arg) single nucleotide variant not provided [RCV004724109] ChrX:21992597 [GRCh38]
ChrX:22010715 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.661-13A>C single nucleotide variant Syndromic X-linked intellectual disability Snyder type [RCV004768450] ChrX:21978864 [GRCh38]
ChrX:21996982 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_004595.5(SMS):c.923A>G (p.Gln308Arg) single nucleotide variant not provided [RCV004727645] ChrX:21985201 [GRCh38]
ChrX:22003319 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.1037dup (p.Cys347fs) duplication not provided [RCV004770506] ChrX:21992687..21992688 [GRCh38]
ChrX:22010805..22010806 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.673G>C (p.Val225Leu) single nucleotide variant not provided [RCV004767867] ChrX:21978889 [GRCh38]
ChrX:21997007 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.85A>G (p.Ile29Val) single nucleotide variant not provided [RCV004775823] ChrX:21967231 [GRCh38]
ChrX:21985349 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.644T>C (p.Met215Thr) single nucleotide variant not provided [RCV004775940] ChrX:21978098 [GRCh38]
ChrX:21996216 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.946-3T>G single nucleotide variant not provided [RCV004775222] ChrX:21992594 [GRCh38]
ChrX:22010712 [GRCh37]
ChrX:Xp22.11		 uncertain significance
GRCh37/hg19 Xp22.2-11.23(chrX:15392463-48777470)x1 copy number loss not provided [RCV004819405] ChrX:15392463..48777470 [GRCh37]
ChrX:Xp22.2-11.23		 pathogenic
GRCh37/hg19 Xp22.33-21.3(chrX:2631638-25008584)x1 copy number loss not provided [RCV004819402] ChrX:2631638..25008584 [GRCh37]
ChrX:Xp22.33-21.3		 pathogenic
NM_004595.5(SMS):c.865+12T>C single nucleotide variant not provided [RCV005087831] ChrX:21984430 [GRCh38]
ChrX:22002548 [GRCh37]
ChrX:Xp22.11		 benign
Single allele inversion Duchenne muscular dystrophy [RCV005229749] ChrX:17398320..32130845 [GRCh38]
ChrX:Xp22.2-21.1		 pathogenic
NM_004595.5(SMS):c.1001G>A (p.Arg334His) single nucleotide variant not provided [RCV005070580] ChrX:21992652 [GRCh38]
ChrX:22010770 [GRCh37]
ChrX:Xp22.11		 benign
NM_004595.5(SMS):c.1093A>C (p.Lys365Gln) single nucleotide variant not provided [RCV005076180] ChrX:21994343 [GRCh38]
ChrX:22012461 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.160A>G (p.Lys54Glu) single nucleotide variant not provided [RCV005108861] ChrX:21967306 [GRCh38]
ChrX:21985424 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.25C>G (p.Leu9Val) single nucleotide variant not provided [RCV005250792] ChrX:21940849 [GRCh38]
ChrX:21958967 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.751-3A>G single nucleotide variant not provided [RCV005241640] ChrX:21984301 [GRCh38]
ChrX:22002419 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.1012C>T (p.Pro338Ser) single nucleotide variant not provided [RCV005207413] ChrX:21992663 [GRCh38]
ChrX:22010781 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.108G>A (p.Ala36=) single nucleotide variant not provided [RCV005189105] ChrX:21967254 [GRCh38]
ChrX:21985372 [GRCh37]
ChrX:Xp22.11		 benign
NM_004595.5(SMS):c.857C>T (p.Pro286Leu) single nucleotide variant Syndromic X-linked intellectual disability Snyder type [RCV005253557] ChrX:21984410 [GRCh38]
ChrX:22002528 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.86T>C (p.Ile29Thr) single nucleotide variant Inborn genetic diseases [RCV005284602] ChrX:21967232 [GRCh38]
ChrX:21985350 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.637C>T (p.Pro213Ser) single nucleotide variant not provided [RCV005415042] ChrX:21978091 [GRCh38]
ChrX:21996209 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_004595.5(SMS):c.161A>G (p.Lys54Arg) single nucleotide variant not provided [RCV005411865] ChrX:21967307 [GRCh38]
ChrX:21985425 [GRCh37]
ChrX:Xp22.11		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:1027
Count of miRNA genes:699
Interacting mature miRNAs:796
Transcripts:ENST00000379404, ENST00000404933, ENST00000415881, ENST00000457085, ENST00000478094
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
DXS7924  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X21,964,720 - 21,964,819UniSTSGRCh37
Build 36X21,874,641 - 21,874,740RGDNCBI36
CeleraX26,085,675 - 26,085,774RGD
Cytogenetic MapXp22.1UniSTS
HuRefX19,705,493 - 19,705,592UniSTS
SMS_8632  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37671,317,471 - 71,318,315UniSTSGRCh37
GRCh371160,865,491 - 160,866,339UniSTSGRCh37
Build 361159,132,115 - 159,132,963RGDNCBI36
Celera1133,933,683 - 133,934,531RGD
Celera671,705,885 - 71,706,729UniSTS
HuRef668,515,624 - 68,516,468UniSTS
HuRef1132,221,806 - 132,222,654UniSTS
L47638  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X22,012,363 - 22,012,538UniSTSGRCh37
Build 36X21,922,284 - 21,922,459RGDNCBI36
CeleraX26,133,317 - 26,133,492RGD
Cytogenetic MapXp22.1UniSTS
HuRefX19,753,203 - 19,753,378UniSTS
WI-17538  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X21,990,048 - 21,990,148UniSTSGRCh37
Build 36X21,899,969 - 21,900,069RGDNCBI36
CeleraX26,111,001 - 26,111,101RGD
Cytogenetic MapXp22.1UniSTS
HuRefX19,730,872 - 19,730,972UniSTS
GeneMap99-GB4 RH MapX97.2UniSTS
Whitehead-RH MapX18.1UniSTS
NCBI RH MapX43.0UniSTS
DXS7528  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X21,979,316 - 21,979,540UniSTSGRCh37
Build 36X21,889,237 - 21,889,461RGDNCBI36
CeleraX26,100,269 - 26,100,493RGD
Cytogenetic MapXp22.1UniSTS
HuRefX19,720,094 - 19,720,318UniSTS
Whitehead-RH MapX18.2UniSTS
Whitehead-YAC Contig MapX UniSTS
NCBI RH MapX43.0UniSTS
G19647  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp22.1UniSTS
A001U03  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp22.1UniSTS
GeneMap99-GB4 RH Map6306.13UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4973 1726 2351 5 624 1951 465 2269 7304 6470 53 3734 1 851 1743 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001258423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AD001528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC085621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U53331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U72789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U73023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z49099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000379404   ⟹   ENSP00000368714
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX21,940,715 - 21,994,473 (+)Ensembl
Ensembl Acc Id: ENST00000404933   ⟹   ENSP00000385746
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX21,940,709 - 21,994,837 (+)Ensembl
Ensembl Acc Id: ENST00000457085   ⟹   ENSP00000407366
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX21,940,941 - 21,978,111 (+)Ensembl
Ensembl Acc Id: ENST00000478094
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX21,940,778 - 21,977,989 (+)Ensembl
RefSeq Acc Id: NM_001258423   ⟹   NP_001245352
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X21,940,709 - 21,994,837 (+)NCBI
GRCh37X21,958,691 - 22,025,798 (+)NCBI
HuRefX19,699,279 - 19,753,795 (+)NCBI
CHM1_1X21,989,118 - 22,043,385 (+)NCBI
T2T-CHM13v2.0X21,524,038 - 21,578,161 (+)NCBI
Sequence:
RefSeq Acc Id: NM_004595   ⟹   NP_004586
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X21,940,709 - 21,994,837 (+)NCBI
GRCh37X21,958,691 - 22,025,798 (+)NCBI
Build 36X21,868,763 - 21,922,876 (+)NCBI Archive
HuRefX19,699,279 - 19,753,795 (+)NCBI
CHM1_1X21,989,118 - 22,043,385 (+)NCBI
T2T-CHM13v2.0X21,524,038 - 21,578,161 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005274582   ⟹   XP_005274639
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X21,959,856 - 21,994,837 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545568   ⟹   XP_011543870
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X21,940,997 - 21,994,837 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054327621   ⟹   XP_054183596
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X21,524,498 - 21,578,161 (+)NCBI
RefSeq Acc Id: NP_004586   ⟸   NM_004595
- Peptide Label: isoform 1
- UniProtKB: O00544 (UniProtKB/Swiss-Prot),   B2R9M0 (UniProtKB/Swiss-Prot),   A6NI34 (UniProtKB/Swiss-Prot),   A6NHA7 (UniProtKB/Swiss-Prot),   Q9UQS1 (UniProtKB/Swiss-Prot),   P52788 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001245352   ⟸   NM_001258423
- Peptide Label: isoform 2
- UniProtKB: B4DE40 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005274639   ⟸   XM_005274582
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011543870   ⟸   XM_011545568
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000407366   ⟸   ENST00000457085
Ensembl Acc Id: ENSP00000385746   ⟸   ENST00000404933
Ensembl Acc Id: ENSP00000368714   ⟸   ENST00000379404
RefSeq Acc Id: XP_054183596   ⟸   XM_054327621
- Peptide Label: isoform X1
Protein Domains
PABS

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P52788-F1-model_v2 AlphaFold P52788 1-366 view protein structure

Promoters
RGD ID:6809281
Promoter ID:HG_KWN:66230
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000379404,   OTTHUMT00000056030,   OTTHUMT00000056032,   OTTHUMT00000056033,   UC004DAF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X21,868,516 - 21,869,352 (+)MPROMDB
RGD ID:13604912
Promoter ID:EPDNEW_H28640
Type:initiation region
Name:SMS_2
Description:spermine synthase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28641  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X21,940,596 - 21,940,656EPDNEW
RGD ID:13604914
Promoter ID:EPDNEW_H28641
Type:initiation region
Name:SMS_1
Description:spermine synthase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28640  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X21,940,741 - 21,940,801EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11123 AgrOrtholog
COSMIC SMS COSMIC
Ensembl Genes ENSG00000102172 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000379404 ENTREZGENE
  ENST00000379404.5 UniProtKB/Swiss-Prot
  ENST00000404933 ENTREZGENE
  ENST00000404933.7 UniProtKB/Swiss-Prot
Gene3D-CATH 2.30.140.10 UniProtKB/Swiss-Prot
  3.40.50.150 UniProtKB/Swiss-Prot
  Siroheme synthase, domain 2 UniProtKB/Swiss-Prot
GTEx ENSG00000102172 GTEx
HGNC ID HGNC:11123 ENTREZGENE
Human Proteome Map SMS Human Proteome Map
InterPro PABS UniProtKB/Swiss-Prot
  PABS_CS UniProtKB/Swiss-Prot
  SAM-dependent_MTases UniProtKB/Swiss-Prot
  Spermidine_synt_N UniProtKB/Swiss-Prot
  Spermidine_synt_N_sf UniProtKB/Swiss-Prot
  Spermine_synthase_animal UniProtKB/Swiss-Prot
  SpmSyn_N UniProtKB/Swiss-Prot
KEGG Report hsa:6611 UniProtKB/Swiss-Prot
NCBI Gene 6611 ENTREZGENE
OMIM 300105 OMIM
PANTHER PTHR46315 UniProtKB/Swiss-Prot
  SPERMINE SYNTHASE UniProtKB/Swiss-Prot
Pfam Spermine_synt_N UniProtKB/Swiss-Prot
  Spermine_synth UniProtKB/Swiss-Prot
  SpmSyn_N UniProtKB/Swiss-Prot
PharmGKB PA35972 PharmGKB
PROSITE PABS_1 UniProtKB/Swiss-Prot
  PABS_2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF53335 UniProtKB/Swiss-Prot
UniProt A6NHA7 ENTREZGENE
  A6NI34 ENTREZGENE
  B2R9M0 ENTREZGENE
  B4DE40 ENTREZGENE, UniProtKB/TrEMBL
  H7C2R7_HUMAN UniProtKB/TrEMBL
  O00544 ENTREZGENE
  P52788 ENTREZGENE
  Q9UQS1 ENTREZGENE
  SPSY_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A6NHA7 UniProtKB/Swiss-Prot
  A6NI34 UniProtKB/Swiss-Prot
  B2R9M0 UniProtKB/Swiss-Prot
  O00544 UniProtKB/Swiss-Prot
  Q9UQS1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-22 SMS  spermine synthase  SRS  Snyder-Robinson X-linked mental retardation syndrome  Data merged from RGD:1343475 737654 PROVISIONAL
2012-05-08 SMS  spermine synthase  SMS  spermine synthase  Symbol and/or name change 5135510 APPROVED