SLC35A2 (solute carrier family 35 member A2) - Rat Genome Database

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Gene: SLC35A2 (solute carrier family 35 member A2) Homo sapiens
Analyze
Symbol: SLC35A2
Name: solute carrier family 35 member A2
RGD ID: 1353471
HGNC Page HGNC
Description: Predicted to have UDP-galactose transmembrane transporter activity. Predicted to be involved in UDP-galactose transmembrane transport and galactose metabolic process. Localizes to Golgi apparatus; endoplasmic reticulum; and nucleoplasm. Implicated in congenital disorder of glycosylation type IIm.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CDG2M; CDGX; solute carrier family 35 (UDP-galactose transporter), member 2; solute carrier family 35 (UDP-galactose transporter), member A2; UDP-Gal-Tr; UDP-galactose translocator; UDP-galactose transporter; UGALT; UGAT; UGT; UGT1; UGT2; UGTL
RGD Orthologs
Mouse
Rat
Chinchilla
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX48,903,180 - 48,911,958 (-)EnsemblGRCh38hg38GRCh38
GRCh38X48,903,183 - 48,911,958 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X48,760,460 - 48,769,235 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X48,645,403 - 48,654,179 (-)NCBINCBI36hg18NCBI36
Build 34X48,516,706 - 48,525,165NCBI
CeleraX52,894,294 - 52,903,071 (+)NCBI
Cytogenetic MapXp11.23NCBI
HuRefX46,416,492 - 46,425,389 (-)NCBIHuRef
CHM1_1X48,791,599 - 48,800,377 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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 renal morphology  (IAGP)
Abnormality of midbrain morphology  (IAGP)
Abnormality of the immune system  (IAGP)
Abnormality of the respiratory system  (IAGP)
Anisometropia  (IAGP)
Atrophy/Degeneration affecting the brainstem  (IAGP)
Camptodactyly of finger  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebral atrophy  (IAGP)
Cerebral visual impairment  (IAGP)
Cerebral white matter atrophy  (IAGP)
Coarse facial features  (IAGP)
Cortical dysplasia  (IAGP)
Coxa valga  (IAGP)
Craniosynostosis  (IAGP)
Dandy-Walker malformation  (IAGP)
Decreased galactosylation of N-linked protein glycosylation  (IAGP)
Decreased sialylation of O-linked protein glycosylation  (IAGP)
Delayed myelination  (IAGP)
Dilation of lateral ventricles  (IAGP)
EEG with focal epileptiform discharges  (IAGP)
Elevated brain N-acetyl aspartate level by MRS  (IAGP)
Elevated hepatic transaminase  (IAGP)
Epileptic encephalopathy  (IAGP)
Exotropia  (IAGP)
Failure to thrive in infancy  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Hip subluxation  (IAGP)
Hypopigmentation of the skin  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplastic hippocampus  (IAGP)
Hypsarrhythmia  (IAGP)
Inability to walk  (IAGP)
Increased circulating thyroglobulin level  (IAGP)
Increased thyroid-stimulating hormone level  (IAGP)
Infantile muscular hypotonia  (IAGP)
Infantile onset  (IAGP)
Infantile spasms  (IAGP)
Intellectual disability, severe  (IAGP)
Intrauterine growth retardation  (IAGP)
Inverted nipples  (IAGP)
Joint hypermobility  (IAGP)
Metatarsus adductus  (IAGP)
Microcephaly  (IAGP)
Muscular hypotonia of the trunk  (IAGP)
Nasogastric tube feeding  (IAGP)
Nystagmus  (IAGP)
Ocular flutter  (IAGP)
Open mouth  (IAGP)
Osteopenia  (IAGP)
Paroxysmal involuntary eye movements  (IAGP)
Precocious puberty  (IAGP)
Prenatal maternal abnormality  (IAGP)
Recurrent infections  (IAGP)
Rod-cone dystrophy  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short corpus callosum  (IAGP)
Short stature  (IAGP)
Short tibia  (IAGP)
Somatic mosaicism  (IAGP)
Spastic tetraparesis  (IAGP)
Talipes equinovarus  (IAGP)
Tetralogy of Fallot  (IAGP)
Thick eyebrow  (IAGP)
Thick vermilion border  (IAGP)
Thickened nuchal skin fold  (IAGP)
Transient nephrotic syndrome  (IAGP)
Wide nasal bridge  (IAGP)
X-linked dominant inheritance  (IAGP)
References

Additional References at PubMed
PMID:8125298   PMID:8128316   PMID:8889805   PMID:9010752   PMID:9399569   PMID:11279205   PMID:11389099   PMID:12477932   PMID:12925779   PMID:14702039   PMID:16189514   PMID:18029348  
PMID:18854154   PMID:20301507   PMID:21873635   PMID:21918738   PMID:22810586   PMID:23089177   PMID:23561849   PMID:23583405   PMID:24115232   PMID:25416956   PMID:25451267   PMID:25944901  
PMID:26472760   PMID:27743886   PMID:28514442   PMID:28692057   PMID:28986522   PMID:29679388   PMID:29907092   PMID:30194290   PMID:30639242   PMID:30746764   PMID:30817854   PMID:32296183  
PMID:32605344   PMID:32694731  


Genomics

Comparative Map Data
SLC35A2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX48,903,180 - 48,911,958 (-)EnsemblGRCh38hg38GRCh38
GRCh38X48,903,183 - 48,911,958 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X48,760,460 - 48,769,235 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X48,645,403 - 48,654,179 (-)NCBINCBI36hg18NCBI36
Build 34X48,516,706 - 48,525,165NCBI
CeleraX52,894,294 - 52,903,071 (+)NCBI
Cytogenetic MapXp11.23NCBI
HuRefX46,416,492 - 46,425,389 (-)NCBIHuRef
CHM1_1X48,791,599 - 48,800,377 (-)NCBICHM1_1
Slc35a2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X7,750,189 - 7,760,731 (+)NCBIGRCm39mm39
GRCm39 EnsemblX7,750,267 - 7,760,731 (+)Ensembl
GRCm38X7,883,921 - 7,894,492 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX7,884,028 - 7,894,492 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X7,461,370 - 7,471,618 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X7,041,203 - 7,051,364 (+)NCBImm8
CeleraX3,575,406 - 3,585,656 (-)NCBICelera
Cytogenetic MapXA1.1NCBI
cM MapX3.56NCBI
Slc35a2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X14,608,145 - 14,616,937 (-)NCBI
Rnor_6.0 EnsemblX15,453,186 - 15,461,713 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X15,453,184 - 15,461,990 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X16,234,419 - 16,243,248 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X26,642,694 - 26,651,223 (-)NCBIRGSC3.4rn4RGSC3.4
CeleraX14,692,902 - 14,701,423 (-)NCBICelera
Cytogenetic MapXq12NCBI
Slc35a2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955543434,405 - 443,508 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955543434,265 - 443,460 (-)NCBIChiLan1.0ChiLan1.0
SLC35A2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X42,060,568 - 42,071,330 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX42,052,781 - 42,071,012 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX16,437,676 - 16,446,449 (-)NCBI
ROS_Cfam_1.0X42,196,798 - 42,207,560 (-)NCBI
UMICH_Zoey_3.1X42,184,671 - 42,193,444 (-)NCBI
UNSW_CanFamBas_1.0X42,172,953 - 42,181,735 (-)NCBI
UU_Cfam_GSD_1.0X42,267,160 - 42,275,933 (-)NCBI
Slc35a2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X34,589,680 - 34,598,671 (-)NCBI
SpeTri2.0NW_004936721830,067 - 838,783 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC35A2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX42,981,803 - 42,992,081 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X42,981,801 - 42,992,091 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X47,820,828 - 47,831,636 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SLC35A2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X46,020,241 - 46,030,205 (-)NCBI
ChlSab1.1 EnsemblX46,017,681 - 46,030,200 (-)Ensembl
Slc35a2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624893684,307 - 694,113 (-)NCBI

Position Markers
RH78860  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,770,549 - 48,770,705UniSTSGRCh37
Build 36X48,655,493 - 48,655,649RGDNCBI36
CeleraX52,892,824 - 52,892,980RGD
Cytogenetic MapXp11.23UniSTS
Cytogenetic MapXp11.23-p11.22UniSTS
HuRefX46,426,703 - 46,426,859UniSTS
GeneMap99-GB4 RH MapX138.57UniSTS
NCBI RH MapX268.1UniSTS
STS-H88980  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,770,487 - 48,770,609UniSTSGRCh37
Build 36X48,655,431 - 48,655,553RGDNCBI36
CeleraX52,892,920 - 52,893,042RGD
Cytogenetic MapXp11.23UniSTS
Cytogenetic MapXp11.23-p11.22UniSTS
HuRefX46,426,641 - 46,426,763UniSTS
GeneMap99-GB4 RH MapX147.27UniSTS
STS-R01143  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,760,557 - 48,760,706UniSTSGRCh37
Build 36X48,645,501 - 48,645,650RGDNCBI36
CeleraX52,902,824 - 52,902,973RGD
Cytogenetic MapXp11.23UniSTS
Cytogenetic MapXp11.23-p11.22UniSTS
HuRefX46,416,590 - 46,416,739UniSTS
GeneMap99-GB4 RH MapX140.77UniSTS
NCBI RH MapX268.1UniSTS
WI-13527  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,760,905 - 48,761,054UniSTSGRCh37
Build 36X48,645,849 - 48,645,998RGDNCBI36
CeleraX52,902,476 - 52,902,625RGD
Cytogenetic MapXp11.23-p11.22UniSTS
HuRefX46,416,938 - 46,417,087UniSTS
GeneMap99-GB4 RH MapX140.38UniSTS
Whitehead-RH MapX73.3UniSTS
NCBI RH MapX268.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4096
Count of miRNA genes:1057
Interacting mature miRNAs:1287
Transcripts:ENST00000247138, ENST00000376512, ENST00000376515, ENST00000376521, ENST00000376529, ENST00000413561, ENST00000445167, ENST00000446885, ENST00000452555
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.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1
Medium 830 665 1414 405 1061 254 2425 132 1175 336 816 1509 167 1 384 1389 5 2
Low 1609 2324 312 219 889 211 1932 2064 2559 83 643 104 8 820 1399 1
Below cutoff 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_034300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001032289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001042498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB042425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC233300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF207550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI632201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK090730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL556714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI820134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR450287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D84454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D88146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000247138   ⟹   ENSP00000247138
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,903,183 - 48,911,646 (-)Ensembl
RefSeq Acc Id: ENST00000376512   ⟹   ENSP00000365695
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,905,956 - 48,911,677 (-)Ensembl
RefSeq Acc Id: ENST00000376515   ⟹   ENSP00000365698
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,904,284 - 48,911,958 (-)Ensembl
RefSeq Acc Id: ENST00000376521   ⟹   ENSP00000365704
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,903,184 - 48,911,958 (-)Ensembl
RefSeq Acc Id: ENST00000376529   ⟹   ENSP00000365712
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,903,184 - 48,911,646 (-)Ensembl
RefSeq Acc Id: ENST00000413561   ⟹   ENSP00000393233
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,903,614 - 48,909,872 (-)Ensembl
RefSeq Acc Id: ENST00000445167   ⟹   ENSP00000402726
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,903,613 - 48,911,669 (-)Ensembl
RefSeq Acc Id: ENST00000446885   ⟹   ENSP00000415518
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,905,166 - 48,911,937 (-)Ensembl
RefSeq Acc Id: ENST00000452555   ⟹   ENSP00000416002
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,904,440 - 48,911,646 (-)Ensembl
RefSeq Acc Id: ENST00000616181   ⟹   ENSP00000478617
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,904,344 - 48,911,646 (-)Ensembl
RefSeq Acc Id: ENST00000634461   ⟹   ENSP00000489440
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,906,135 - 48,911,669 (-)Ensembl
RefSeq Acc Id: ENST00000634665   ⟹   ENSP00000489356
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,905,398 - 48,911,646 (-)Ensembl
RefSeq Acc Id: ENST00000635015   ⟹   ENSP00000489089
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,905,859 - 48,911,646 (-)Ensembl
RefSeq Acc Id: ENST00000635238   ⟹   ENSP00000489515
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,905,296 - 48,911,646 (-)Ensembl
RefSeq Acc Id: ENST00000635285   ⟹   ENSP00000489484
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,903,180 - 48,911,651 (-)Ensembl
RefSeq Acc Id: ENST00000635460   ⟹   ENSP00000489339
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,903,184 - 48,911,634 (-)Ensembl
RefSeq Acc Id: ENST00000635589   ⟹   ENSP00000489197
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,904,312 - 48,911,646 (-)Ensembl
RefSeq Acc Id: ENST00000635628   ⟹   ENSP00000489613
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,903,184 - 48,911,646 (-)Ensembl
RefSeq Acc Id: NM_001032289   ⟹   NP_001027460
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,903,613 - 48,911,646 (-)NCBI
GRCh37X48,760,459 - 48,769,235 (-)RGD
Build 36X48,645,834 - 48,653,877 (-)NCBI Archive
CeleraX52,894,294 - 52,903,071 (+)RGD
HuRefX46,416,490 - 46,425,389 (-)NCBI
CHM1_1X48,792,031 - 48,800,377 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001042498   ⟹   NP_001035963
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,903,183 - 48,911,646 (-)NCBI
GRCh37X48,760,459 - 48,769,235 (-)RGD
Build 36X48,645,833 - 48,654,179 (-)NCBI Archive
CeleraX52,894,294 - 52,903,071 (+)RGD
HuRefX46,416,490 - 46,425,389 (-)NCBI
CHM1_1X48,792,031 - 48,800,377 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001282647   ⟹   NP_001269576
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,903,183 - 48,911,646 (-)NCBI
HuRefX46,416,490 - 46,425,389 (-)NCBI
CHM1_1X48,791,599 - 48,800,377 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001282648   ⟹   NP_001269577
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,903,613 - 48,911,958 (-)NCBI
HuRefX46,416,490 - 46,425,389 (-)NCBI
CHM1_1X48,792,031 - 48,800,377 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001282649   ⟹   NP_001269578
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,903,183 - 48,911,646 (-)NCBI
HuRefX46,416,490 - 46,425,389 (-)NCBI
CHM1_1X48,792,031 - 48,800,377 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001282650   ⟹   NP_001269579
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,903,183 - 48,911,646 (-)NCBI
HuRefX46,416,490 - 46,425,389 (-)NCBI
CHM1_1X48,792,031 - 48,800,377 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001282651   ⟹   NP_001269580
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,903,183 - 48,911,646 (-)NCBI
HuRefX46,416,490 - 46,425,389 (-)NCBI
CHM1_1X48,792,031 - 48,800,377 (-)NCBI
Sequence:
RefSeq Acc Id: NM_005660   ⟹   NP_005651
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,903,183 - 48,911,646 (-)NCBI
GRCh37X48,760,459 - 48,769,235 (-)RGD
Build 36X48,645,403 - 48,653,861 (-)NCBI Archive
CeleraX52,894,294 - 52,903,071 (+)RGD
HuRefX46,416,490 - 46,425,389 (-)NCBI
CHM1_1X48,791,599 - 48,800,377 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005651   ⟸   NM_005660
- Peptide Label: isoform a
- UniProtKB: P78381 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001035963   ⟸   NM_001042498
- Peptide Label: isoform c
- UniProtKB: P78381 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001027460   ⟸   NM_001032289
- Peptide Label: isoform b
- UniProtKB: P78381 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001269576   ⟸   NM_001282647
- Peptide Label: isoform d
- UniProtKB: P78381 (UniProtKB/Swiss-Prot),   A6NFI1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269577   ⟸   NM_001282648
- Peptide Label: isoform e
- UniProtKB: P78381 (UniProtKB/Swiss-Prot),   A6NKM8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269578   ⟸   NM_001282649
- Peptide Label: isoform f
- UniProtKB: P78381 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001269580   ⟸   NM_001282651
- Peptide Label: isoform h
- UniProtKB: P78381 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001269579   ⟸   NM_001282650
- Peptide Label: isoform g
- UniProtKB: P78381 (UniProtKB/Swiss-Prot),   B4DE15 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000489440   ⟸   ENST00000634461
RefSeq Acc Id: ENSP00000489356   ⟸   ENST00000634665
RefSeq Acc Id: ENSP00000489515   ⟸   ENST00000635238
RefSeq Acc Id: ENSP00000489484   ⟸   ENST00000635285
RefSeq Acc Id: ENSP00000489089   ⟸   ENST00000635015
RefSeq Acc Id: ENSP00000489613   ⟸   ENST00000635628
RefSeq Acc Id: ENSP00000489197   ⟸   ENST00000635589
RefSeq Acc Id: ENSP00000489339   ⟸   ENST00000635460
RefSeq Acc Id: ENSP00000416002   ⟸   ENST00000452555
RefSeq Acc Id: ENSP00000393233   ⟸   ENST00000413561
RefSeq Acc Id: ENSP00000365695   ⟸   ENST00000376512
RefSeq Acc Id: ENSP00000365698   ⟸   ENST00000376515
RefSeq Acc Id: ENSP00000365704   ⟸   ENST00000376521
RefSeq Acc Id: ENSP00000365712   ⟸   ENST00000376529
RefSeq Acc Id: ENSP00000247138   ⟸   ENST00000247138
RefSeq Acc Id: ENSP00000478617   ⟸   ENST00000616181
RefSeq Acc Id: ENSP00000402726   ⟸   ENST00000445167
RefSeq Acc Id: ENSP00000415518   ⟸   ENST00000446885

Promoters
RGD ID:6809270
Promoter ID:HG_KWN:66714
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:UC004DLR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X48,651,836 - 48,653,192 (-)MPROMDB
RGD ID:6808694
Promoter ID:HG_KWN:66715
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000376512,   ENST00000376515,   ENST00000376529,   NM_001042498,   OTTHUMT00000060794,   UC004DLO.1,   UC004DLQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X48,653,681 - 48,655,107 (-)MPROMDB
RGD ID:6851360
Promoter ID:EP73478
Type:single initiation site
Name:HS_SLC35A2
Description:Solute carrier family 35 (UDP-galactose transporter), member 2.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36X48,653,867 - 48,653,927EPD
RGD ID:13605256
Promoter ID:EPDNEW_H28812
Type:initiation region
Name:SLC35A2_1
Description:solute carrier family 35 member A2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28813  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,911,646 - 48,911,706EPDNEW
RGD ID:13605258
Promoter ID:EPDNEW_H28813
Type:initiation region
Name:SLC35A2_2
Description:solute carrier family 35 member A2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28812  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,911,930 - 48,911,990EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005660.3(SLC35A2):c.958G>T (p.Val320Leu) single nucleotide variant SLC35A2-CDG [RCV000554593] ChrX:48904951 [GRCh38]
ChrX:48762228 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_005660.3(SLC35A2):c.275-16TCC[2] microsatellite SLC35A2-CDG [RCV000548567] ChrX:48906551..48906553 [GRCh38]
ChrX:48763828..48763830 [GRCh37]
ChrX:Xp11.23
likely benign
NM_005660.3(SLC35A2):c.942C>T (p.Arg314=) single nucleotide variant SLC35A2-CDG [RCV000542094] ChrX:48904967 [GRCh38]
ChrX:48762244 [GRCh37]
ChrX:Xp11.23
likely benign
SLC35A2:c.15_91+48delinsA indel SLC35A2-CDG [RCV000043514] ChrX:48911498..48911622 [GRCh38]
ChrX:48768775..48768899 [GRCh37]
ChrX:Xp11.23
pathogenic|other
NM_005660.3(SLC35A2):c.991G>A (p.Val331Ile) single nucleotide variant SLC35A2-CDG [RCV000043515]|not provided [RCV000498343] ChrX:48904918 [GRCh38]
ChrX:48762195 [GRCh37]
ChrX:Xp11.23
pathogenic|likely pathogenic|other
NM_005660.3(SLC35A2):c.3G>A (p.Met1Ile) single nucleotide variant SLC35A2-CDG [RCV000043516] ChrX:48911634 [GRCh38]
ChrX:48768911 [GRCh37]
ChrX:Xp11.23
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-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 Xp11.23-11.22(chrX:47859417-52789530)x3 copy number gain See cases [RCV000052390] ChrX:47859417..52789530 [GRCh38]
ChrX:47835880..52818575 [GRCh37]
ChrX:47603760..52835300 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48344666-52664916)x2 copy number gain See cases [RCV000051992] ChrX:48344666..52664916 [GRCh38]
ChrX:48204101..52616581 [GRCh37]
ChrX:48089045..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(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 Xp22.33-11.1(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 Xp11.23(chrX:48612125-49292405)x2 copy number gain See cases [RCV000054185] ChrX:48612125..49292405 [GRCh38]
ChrX:48510591..49148873 [GRCh37]
ChrX:48355457..49035817 [NCBI36]
ChrX:Xp11.23
uncertain significance
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_006875.3(PIM2):c.651C>T (p.Leu217=) single nucleotide variant Malignant melanoma [RCV000073207] ChrX:48914516 [GRCh38]
ChrX:48771793 [GRCh37]
ChrX:48656737 [NCBI36]
ChrX:Xp11.23
not provided
NM_005660.3(SLC35A2):c.433_434del (p.Tyr145fs) deletion SLC35A2-CDG [RCV000122744] ChrX:48905475..48905476 [GRCh38]
ChrX:48762752..48762753 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_005660.3(SLC35A2):c.972del (p.Phe324fs) deletion SLC35A2-CDG [RCV000122745] ChrX:48904937 [GRCh38]
ChrX:48762214 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_005660.3(SLC35A2):c.638C>T (p.Ser213Phe) single nucleotide variant SLC35A2-CDG [RCV000122746] ChrX:48905271 [GRCh38]
ChrX:48762548 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
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
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:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.31-11.22(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 Xp11.3-11.22(chrX:43361870-50931794)x3 copy number gain See cases [RCV000134956] ChrX:43361870..50931794 [GRCh38]
ChrX:43221119..50674794 [GRCh37]
ChrX:43106063..50691534 [NCBI36]
ChrX:Xp11.3-11.22
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 Xp11.23-11.22(chrX:48022053-52664916)x3 copy number gain See cases [RCV000135801] ChrX:48022053..52664916 [GRCh38]
ChrX:47881447..52616581 [GRCh37]
ChrX:47766391..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xp11.23-11.21(chrX:48344666-58055036)x3 copy number gain See cases [RCV000135958] ChrX:48344666..58055036 [GRCh38]
ChrX:48204101..58081470 [GRCh37]
ChrX:48089045..58098195 [NCBI36]
ChrX:Xp11.23-11.21
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 Xp11.23-11.22(chrX:48260861-52664916)x2 copy number gain See cases [RCV000136829] ChrX:48260861..52664916 [GRCh38]
ChrX:48120296..52616581 [GRCh37]
ChrX:48005240..52710691 [NCBI36]
ChrX:Xp11.23-11.22
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 Xp11.3-11.23(chrX:44765664-49343053)x3 copy number gain See cases [RCV000137271] ChrX:44765664..49343053 [GRCh38]
ChrX:44624910..49218180 [GRCh37]
ChrX:44509854..49105124 [NCBI36]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x3 copy number gain See cases [RCV000138106] ChrX:48429509..52664916 [GRCh38]
ChrX:48287896..52616581 [GRCh37]
ChrX:48172840..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|likely pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x1 copy number loss See cases [RCV000138107] ChrX:48429509..52664916 [GRCh38]
ChrX:48287896..52693966 [GRCh37]
ChrX:48172840..52710691 [NCBI36]
ChrX:Xp11.23-11.22
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 Xp11.23-11.22(chrX:48386298-52664916)x2 copy number gain See cases [RCV000139185] ChrX:48386298..52664916 [GRCh38]
ChrX:48245740..52616581 [GRCh37]
ChrX:48130684..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(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 Xp11.3-11.22(chrX:46971389-54130971)x3 copy number gain See cases [RCV000141567] ChrX:46971389..54130971 [GRCh38]
ChrX:46818746..53957191 [GRCh37]
ChrX:46703690..54174129 [NCBI36]
ChrX:Xp11.3-11.22
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-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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 Xp11.23-11.22(chrX:48310313-52614698)x1 copy number loss See cases [RCV000203435] ChrX:48310313..52614698 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
NM_005660.3(SLC35A2):c.800A>G (p.Tyr267Cys) single nucleotide variant SLC35A2-CDG [RCV000210405] ChrX:48905109 [GRCh38]
ChrX:48762386 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_005660.3(SLC35A2):c.747G>A (p.Gly249=) single nucleotide variant SLC35A2-CDG [RCV000229740] ChrX:48905162 [GRCh38]
ChrX:48762439 [GRCh37]
ChrX:Xp11.23
likely benign
NM_005660.3(SLC35A2):c.12T>G (p.Val4=) single nucleotide variant History of neurodevelopmental disorder [RCV000719618]|SLC35A2-CDG [RCV000225834] ChrX:48911625 [GRCh38]
ChrX:48768902 [GRCh37]
ChrX:Xp11.23
benign|likely benign
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_005660.3(SLC35A2):c.826C>T (p.Leu276Phe) single nucleotide variant not provided [RCV000377201] ChrX:48905083 [GRCh38]
ChrX:48762360 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_005660.3(SLC35A2):c.1066_1067insGCCTCT (p.Ser356_Gly357insCysLeu) insertion Epileptic encephalopathy, early infantile, 1 [RCV000626159] ChrX:48904842..48904843 [GRCh38]
ChrX:48762119..48762120 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_005660.3(SLC35A2):c.795del (p.Phe265fs) deletion Inborn genetic diseases [RCV000624242] ChrX:48905114 [GRCh38]
ChrX:48762391 [GRCh37]
ChrX:Xp11.23
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_005660.3(SLC35A2):c.500_509del (p.Leu167fs) deletion Epileptic encephalopathy [RCV000415123] ChrX:48905400..48905409 [GRCh38]
ChrX:48762677..48762686 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_005660.3(SLC35A2):c.617_620del (p.Val206fs) deletion SLC35A2-CDG [RCV000415221] ChrX:48905289..48905292 [GRCh38]
ChrX:48762566..48762569 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_005660.3(SLC35A2):c.245G>T (p.Cys82Phe) single nucleotide variant SLC35A2-CDG [RCV000560194] ChrX:48909843 [GRCh38]
ChrX:48767120 [GRCh37]
ChrX:Xp11.23
likely pathogenic|uncertain significance
NM_005660.3(SLC35A2):c.102C>T (p.Arg34=) single nucleotide variant not provided [RCV000528189] ChrX:48909986 [GRCh38]
ChrX:48767263 [GRCh37]
ChrX:Xp11.23
likely benign
NM_005660.3(SLC35A2):c.634_636TCC[1] (p.Ser213del) microsatellite not provided [RCV000414069] ChrX:48905270..48905272 [GRCh38]
ChrX:48762547..48762549 [GRCh37]
ChrX:Xp11.23
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-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48317353-51497588)x3 copy number gain See cases [RCV000449147] ChrX:48317353..51497588 [GRCh37]
ChrX:Xp11.23-11.22
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 Xp11.23-11.22(chrX:48317353-51497588)x2 copy number gain See cases [RCV000447617] ChrX:48317353..51497588 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_005660.3(SLC35A2):c.236G>T (p.Gly79Val) single nucleotide variant SLC35A2-CDG [RCV000536070]|not provided [RCV000423604] ChrX:48909852 [GRCh38]
ChrX:48767129 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_005660.3(SLC35A2):c.93T>C (p.Ala31=) single nucleotide variant not provided [RCV000713316] ChrX:48909995 [GRCh38]
ChrX:48767272 [GRCh37]
ChrX:Xp11.23
likely benign|uncertain significance
NM_005660.3(SLC35A2):c.561C>T (p.Ala187=) single nucleotide variant History of neurodevelopmental disorder [RCV000720533]|SLC35A2-CDG [RCV000651308]|not specified [RCV000427885] ChrX:48905348 [GRCh38]
ChrX:48762625 [GRCh37]
ChrX:Xp11.23
benign|likely benign
NM_005660.3(SLC35A2):c.-8A>G single nucleotide variant not specified [RCV000431748] ChrX:48911644 [GRCh38]
ChrX:48768921 [GRCh37]
ChrX:Xp11.23
likely benign
NM_005660.3(SLC35A2):c.43C>A (p.Pro15Thr) single nucleotide variant History of neurodevelopmental disorder [RCV000715495]|SLC35A2-CDG [RCV000466900]|not provided [RCV000713315]|not specified [RCV000438491] ChrX:48911594 [GRCh38]
ChrX:48768871 [GRCh37]
ChrX:Xp11.23
benign
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_005660.3(SLC35A2):c.90G>C (p.Ala30=) single nucleotide variant SLC35A2-CDG [RCV001347966]|not specified [RCV000421392] ChrX:48911547 [GRCh38]
ChrX:48768824 [GRCh37]
ChrX:Xp11.23
likely benign|uncertain significance
NM_005660.3(SLC35A2):c.594C>T (p.Asn198=) single nucleotide variant not provided [RCV000864803]|not specified [RCV000428575] ChrX:48905315 [GRCh38]
ChrX:48762592 [GRCh37]
ChrX:Xp11.23
likely benign
NM_005660.3(SLC35A2):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV000427117] ChrX:48911636 [GRCh38]
ChrX:48768913 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_005660.3(SLC35A2):c.990C>T (p.Leu330=) single nucleotide variant History of neurodevelopmental disorder [RCV000720773]|SLC35A2-CDG [RCV000473172]|not specified [RCV000429903] ChrX:48904919 [GRCh38]
ChrX:48762196 [GRCh37]
ChrX:Xp11.23
benign|likely benign
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 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_005660.3(SLC35A2):c.1058_1063CCTCCG[1] (p.349_350AS[3]) microsatellite SLC35A2-CDG [RCV000470970]|not specified [RCV000614805] ChrX:48904840..48904845 [GRCh38]
ChrX:48762117..48762122 [GRCh37]
ChrX:Xp11.23
benign|likely benign|uncertain significance
NM_005660.3(SLC35A2):c.535G>A (p.Val179Ile) single nucleotide variant SLC35A2-CDG [RCV000456681] ChrX:48905374 [GRCh38]
ChrX:48762651 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_005660.3(SLC35A2):c.1163+44_1163+47del deletion not specified [RCV000487309] ChrX:48904699..48904702 [GRCh38]
ChrX:48761976..48761979 [GRCh37]
ChrX:Xp11.23
likely benign
NM_005660.3(SLC35A2):c.274+5G>A single nucleotide variant SLC35A2-CDG [RCV000466018]|not provided [RCV000578787] ChrX:48909809 [GRCh38]
ChrX:48767086 [GRCh37]
ChrX:Xp11.23
likely benign|uncertain significance
NM_005660.3(SLC35A2):c.426+287_775del deletion SLC35A2-CDG [RCV000469944] ChrX:48905134..48906105 [GRCh38]
ChrX:48762411..48763382 [GRCh37]
ChrX:Xp11.23
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-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
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
NM_005660.3(SLC35A2):c.944T>C (p.Leu315Pro) single nucleotide variant not provided [RCV000493854] ChrX:48904965 [GRCh38]
ChrX:48762242 [GRCh37]
ChrX:Xp11.23
likely 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 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.3-11.23(chrX:46326268-48801984)x2 copy number gain See cases [RCV000511234] ChrX:46326268..48801984 [GRCh37]
ChrX:Xp11.3-11.23
likely pathogenic
NM_005660.3(SLC35A2):c.346G>C (p.Ala116Pro) single nucleotide variant not provided [RCV000523416] ChrX:48906472 [GRCh38]
ChrX:48763749 [GRCh37]
ChrX:Xp11.23
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_005660.3(SLC35A2):c.233A>G (p.Lys78Arg) single nucleotide variant SLC35A2-CDG [RCV000766228] ChrX:48909855 [GRCh38]
ChrX:48767132 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_005660.3(SLC35A2):c.30C>G (p.Thr10=) single nucleotide variant SLC35A2-CDG [RCV000524549]|not specified [RCV001288423] ChrX:48911607 [GRCh38]
ChrX:48768884 [GRCh37]
ChrX:Xp11.23
benign|likely benign
NM_005660.3(SLC35A2):c.447C>A (p.Ile149=) single nucleotide variant not provided [RCV000863765]|not specified [RCV000613885] ChrX:48905462 [GRCh38]
ChrX:48762739 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001282648.2(SLC35A2):c.19+204G>A single nucleotide variant not specified [RCV000608616] ChrX:48911655 [GRCh38]
ChrX:48768932 [GRCh37]
ChrX:Xp11.23
likely benign
NM_005660.3(SLC35A2):c.1062C>T (p.Ser354=) single nucleotide variant SLC35A2-CDG [RCV000885007]|not specified [RCV000611329] ChrX:48904847 [GRCh38]
ChrX:48762124 [GRCh37]
ChrX:Xp11.23
benign|likely benign
NM_001282648.2(SLC35A2):c.19+183dup duplication not specified [RCV000609085] ChrX:48911671..48911672 [GRCh38]
ChrX:48768948..48768949 [GRCh37]
ChrX:Xp11.23
likely benign
NM_005660.3(SLC35A2):c.348del (p.Val117fs) deletion SLC35A2-CDG [RCV000651307] ChrX:48906470 [GRCh38]
ChrX:48763747 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_005660.3(SLC35A2):c.852G>T (p.Leu284=) single nucleotide variant SLC35A2-CDG [RCV000651309] ChrX:48905057 [GRCh38]
ChrX:48762334 [GRCh37]
ChrX:Xp11.23
likely benign
NM_005660.3(SLC35A2):c.750C>G (p.Leu250=) single nucleotide variant SLC35A2-CDG [RCV000651311] ChrX:48905159 [GRCh38]
ChrX:48762436 [GRCh37]
ChrX:Xp11.23
likely benign
NM_005660.3(SLC35A2):c.981C>T (p.Gly327=) single nucleotide variant not provided [RCV000651312] ChrX:48904928 [GRCh38]
ChrX:48762205 [GRCh37]
ChrX:Xp11.23
likely benign
NM_005660.3(SLC35A2):c.639C>T (p.Ser213=) single nucleotide variant History of neurodevelopmental disorder [RCV000717753]|SLC35A2-CDG [RCV000651313] ChrX:48905270 [GRCh38]
ChrX:48762547 [GRCh37]
ChrX:Xp11.23
benign|likely benign
NC_000023.10:g.(?_48542223)_(48768933_?)dup duplication SLC35A2-CDG [RCV000651314] ChrX:48542223..48768933 [GRCh37]
ChrX:Xp11.23
uncertain significance
NC_000023.10:g.(?_48755773)_(48935774_?)dup duplication SLC35A2-CDG [RCV000651315] ChrX:48755773..48935774 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48224454-52813336)x3 copy number gain See cases [RCV000512224] ChrX:48224454..52813336 [GRCh37]
ChrX:Xp11.23-11.22
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
NM_005660.3(SLC35A2):c.1039G>A (p.Ala347Thr) single nucleotide variant not provided [RCV000513019] ChrX:48904870 [GRCh38]
ChrX:48762147 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_005660.3(SLC35A2):c.1078G>A (p.Val360Ile) single nucleotide variant SLC35A2-CDG [RCV000651310]|not specified [RCV000606151] ChrX:48904831 [GRCh38]
ChrX:48762108 [GRCh37]
ChrX:Xp11.23
benign|likely benign
GRCh37/hg19 Xp11.23-11.22(chrX:48290189-52154997)x4 copy number gain See cases [RCV000512561] ChrX:48290189..52154997 [GRCh37]
ChrX:Xp11.23-11.22
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_005660.3(SLC35A2):c.818G>A (p.Gly273Asp) single nucleotide variant Inborn genetic diseases [RCV000623631] ChrX:48905091 [GRCh38]
ChrX:48762368 [GRCh37]
ChrX:Xp11.23
uncertain significance
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 Xp11.23-11.22(chrX:48156672-52672728)x1 copy number loss not provided [RCV000684331] ChrX:48156672..52672728 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
NM_005660.3(SLC35A2):c.619G>A (p.Val207Met) single nucleotide variant SLC35A2-CDG [RCV000685207] ChrX:48905290 [GRCh38]
ChrX:48762567 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_005660.3(SLC35A2):c.523C>T (p.Leu175Phe) single nucleotide variant SLC35A2-CDG [RCV000691195] ChrX:48905386 [GRCh38]
ChrX:48762663 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_005660.3(SLC35A2):c.169G>A (p.Ala57Thr) single nucleotide variant History of neurodevelopmental disorder [RCV000718837]|SLC35A2-CDG [RCV001056605] ChrX:48909919 [GRCh38]
ChrX:48767196 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_005660.3(SLC35A2):c.1056T>C (p.Ser352=) single nucleotide variant History of neurodevelopmental disorder [RCV000719302]|SLC35A2-CDG [RCV000862426] ChrX:48904853 [GRCh38]
ChrX:48762130 [GRCh37]
ChrX:Xp11.23
benign|likely benign
NM_005660.3(SLC35A2):c.515T>C (p.Leu172Pro) single nucleotide variant SLC35A2-CDG [RCV001004665] ChrX:48905394 [GRCh38]
ChrX:48762671 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
NM_005660.3(SLC35A2):c.579G>A (p.Arg193=) single nucleotide variant not provided [RCV000936276] ChrX:48905330 [GRCh38]
ChrX:48762607 [GRCh37]
ChrX:Xp11.23
likely benign
NM_005660.3(SLC35A2):c.72G>T (p.Glu24Asp) single nucleotide variant SLC35A2-CDG [RCV000861439] ChrX:48911565 [GRCh38]
ChrX:48768842 [GRCh37]
ChrX:Xp11.23
benign
NM_005660.3(SLC35A2):c.584T>G (p.Leu195Arg) single nucleotide variant not provided [RCV000762634] ChrX:48905325 [GRCh38]
ChrX:48762602 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_005660.3(SLC35A2):c.520_522CTC[1] (p.Leu175del) microsatellite SLC35A2-CDG [RCV000990814] ChrX:48905384..48905386 [GRCh38]
ChrX:48762661..48762663 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_005660.3(SLC35A2):c.74C>T (p.Pro25Leu) single nucleotide variant SLC35A2-CDG [RCV001066955] ChrX:48911563 [GRCh38]
ChrX:48768840 [GRCh37]
ChrX:Xp11.23
uncertain significance
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_005660.3(SLC35A2):c.578G>A (p.Arg193Gln) single nucleotide variant SLC35A2-CDG [RCV001037501]|not provided [RCV000999416] ChrX:48905331 [GRCh38]
ChrX:48762608 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_005660.3(SLC35A2):c.8C>T (p.Ala3Val) single nucleotide variant SLC35A2-CDG [RCV001046470] ChrX:48911629 [GRCh38]
ChrX:48768906 [GRCh37]
ChrX:Xp11.23
benign|uncertain significance
NM_005660.3(SLC35A2):c.222G>C (p.Ala74=) single nucleotide variant not provided [RCV000924909] ChrX:48909866 [GRCh38]
ChrX:48767143 [GRCh37]
ChrX:Xp11.23
likely benign
NM_005660.3(SLC35A2):c.1146G>A (p.Thr382=) single nucleotide variant not provided [RCV000864863] ChrX:48904763 [GRCh38]
ChrX:48762040 [GRCh37]
ChrX:Xp11.23
likely benign
NM_005660.3(SLC35A2):c.963C>T (p.Asp321=) single nucleotide variant not provided [RCV000926487] ChrX:48904946 [GRCh38]
ChrX:48762223 [GRCh37]
ChrX:Xp11.23
likely benign
NM_005660.3(SLC35A2):c.336G>T (p.Thr112=) single nucleotide variant not provided [RCV000942014] ChrX:48906482 [GRCh38]
ChrX:48763759 [GRCh37]
ChrX:Xp11.23
likely benign
NM_005660.3(SLC35A2):c.837_843del (p.Phe280fs) deletion SLC35A2-CDG [RCV001050910] ChrX:48905066..48905072 [GRCh38]
ChrX:48762343..48762349 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_005660.3(SLC35A2):c.35C>G (p.Ala12Gly) single nucleotide variant SLC35A2-CDG [RCV001038379] ChrX:48911602 [GRCh38]
ChrX:48768879 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48224266-52744574)x2 copy number gain not provided [RCV000847795] ChrX:48224266..52744574 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
NM_005660.3(SLC35A2):c.771C>T (p.Ala257=) single nucleotide variant not provided [RCV000943937] ChrX:48905138 [GRCh38]
ChrX:48762415 [GRCh37]
ChrX:Xp11.23
benign
GRCh37/hg19 Xp11.3-11.23(chrX:43507300-48929622) copy number gain not provided [RCV000767648] ChrX:43507300..48929622 [GRCh37]
ChrX:Xp11.3-11.23
pathogenic
NM_005660.3(SLC35A2):c.497G>A (p.Arg166Gln) single nucleotide variant SLC35A2-CDG [RCV000802532] ChrX:48905412 [GRCh38]
ChrX:48762689 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_005660.3(SLC35A2):c.580C>A (p.Pro194Thr) single nucleotide variant SLC35A2-CDG [RCV000796274] ChrX:48905329 [GRCh38]
ChrX:48762606 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_005660.3(SLC35A2):c.2T>A (p.Met1Lys) single nucleotide variant SLC35A2-CDG [RCV000823050] ChrX:48911635 [GRCh38]
ChrX:48768912 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_005660.3(SLC35A2):c.881A>G (p.Asn294Ser) single nucleotide variant SLC35A2-CDG [RCV000800725] ChrX:48905028 [GRCh38]
ChrX:48762305 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
GRCh37/hg19 Xp11.23(chrX:48491182-48772769)x3 copy number gain not provided [RCV000845674] ChrX:48491182..48772769 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_005660.3(SLC35A2):c.485G>A (p.Arg162His) single nucleotide variant SLC35A2-CDG [RCV000791153] ChrX:48905424 [GRCh38]
ChrX:48762701 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_005660.3(SLC35A2):c.630_631TC[2] (p.Ser212fs) microsatellite SLC35A2-CDG [RCV000785980] ChrX:48905274..48905275 [GRCh38]
ChrX:48762551..48762552 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_005660.3(SLC35A2):c.1096G>A (p.Gly366Arg) single nucleotide variant SLC35A2-CDG [RCV000792956] ChrX:48904813 [GRCh38]
ChrX:48762090 [GRCh37]
ChrX:Xp11.23
likely benign|uncertain significance
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
NM_005660.3(SLC35A2):c.1130G>A (p.Arg377His) single nucleotide variant SLC35A2-CDG [RCV000869868] ChrX:48904779 [GRCh38]
ChrX:48762056 [GRCh37]
ChrX:Xp11.23
benign
NM_005660.3(SLC35A2):c.828C>T (p.Leu276=) single nucleotide variant SLC35A2-CDG [RCV001079103]|not provided [RCV000861614] ChrX:48905081 [GRCh38]
ChrX:48762358 [GRCh37]
ChrX:Xp11.23
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005660.3(SLC35A2):c.691G>A (p.Val231Met) single nucleotide variant not provided [RCV000838714] ChrX:48905218 [GRCh38]
ChrX:48762495 [GRCh37]
ChrX:Xp11.23
likely benign
NM_005660.3(SLC35A2):c.324G>A (p.Gln108=) single nucleotide variant SLC35A2-CDG [RCV000979716] ChrX:48906494 [GRCh38]
ChrX:48763771 [GRCh37]
ChrX:Xp11.23
likely benign
NM_005660.3(SLC35A2):c.1050_1055TGCCTC[1] (p.349_350AS[3]) microsatellite SLC35A2-CDG [RCV001065734] ChrX:48904848..48904853 [GRCh38]
ChrX:48762125..48762130 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_005660.3(SLC35A2):c.818G>C (p.Gly273Ala) single nucleotide variant SLC35A2-CDG [RCV001049784]|not provided [RCV000999415] ChrX:48905091 [GRCh38]
ChrX:48762368 [GRCh37]
ChrX:Xp11.23
benign|likely benign|uncertain significance
NM_005660.3(SLC35A2):c.7del (p.Ala3fs) deletion not provided [RCV001009055] ChrX:48911630 [GRCh38]
ChrX:48768907 [GRCh37]
ChrX:Xp11.23
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
NM_005660.3(SLC35A2):c.427-4G>A single nucleotide variant not provided [RCV000999417] ChrX:48905486 [GRCh38]
ChrX:48762763 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_005660.3(SLC35A2):c.263C>T (p.Ala88Val) single nucleotide variant SLC35A2-CDG [RCV001205372] ChrX:48909825 [GRCh38]
ChrX:48767102 [GRCh37]
ChrX:Xp11.23
benign|uncertain significance
NM_005660.3(SLC35A2):c.819C>T (p.Gly273=) single nucleotide variant SLC35A2-CDG [RCV001206300] ChrX:48905090 [GRCh38]
ChrX:48762367 [GRCh37]
ChrX:Xp11.23
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_005660.3(SLC35A2):c.966A>G (p.Pro322=) single nucleotide variant not provided [RCV000999414] ChrX:48904943 [GRCh38]
ChrX:48762220 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_005660.3(SLC35A2):c.92-7C>G single nucleotide variant not provided [RCV000999419] ChrX:48910003 [GRCh38]
ChrX:48767280 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_005660.3(SLC35A2):c.389_391del (p.Tyr130_Val131delinsPhe) deletion SLC35A2-CDG [RCV000990815] ChrX:48906427..48906429 [GRCh38]
ChrX:48763704..48763706 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_005660.3(SLC35A2):c.128T>C (p.Leu43Pro) single nucleotide variant SLC35A2-CDG [RCV000990816] ChrX:48909960 [GRCh38]
ChrX:48767237 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_005660.3(SLC35A2):c.844G>A (p.Gly282Arg) single nucleotide variant not provided [RCV001091019] ChrX:48905065 [GRCh38]
ChrX:48762342 [GRCh37]
ChrX:Xp11.23
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
NM_005660.3(SLC35A2):c.646G>A (p.Ala216Thr) single nucleotide variant not provided [RCV000971986] ChrX:48905263 [GRCh38]
ChrX:48762540 [GRCh37]
ChrX:Xp11.23
likely benign
NM_005660.3(SLC35A2):c.690C>T (p.Ser230=) single nucleotide variant not provided [RCV000862855] ChrX:48905219 [GRCh38]
ChrX:48762496 [GRCh37]
ChrX:Xp11.23
likely benign
NM_005660.3(SLC35A2):c.534C>T (p.Gly178=) single nucleotide variant not provided [RCV000868292] ChrX:48905375 [GRCh38]
ChrX:48762652 [GRCh37]
ChrX:Xp11.23
likely benign
NM_005660.3(SLC35A2):c.1063G>A (p.Ala355Thr) single nucleotide variant not provided [RCV000931513] ChrX:48904846 [GRCh38]
ChrX:48762123 [GRCh37]
ChrX:Xp11.23
benign
NM_005660.3(SLC35A2):c.275-9C>A single nucleotide variant SLC35A2-CDG [RCV001070781] ChrX:48906552 [GRCh38]
ChrX:48763829 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_005660.3(SLC35A2):c.841G>A (p.Gly281Ser) single nucleotide variant SLC35A2-CDG [RCV001219843] ChrX:48905068 [GRCh38]
ChrX:48762345 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_005660.3(SLC35A2):c.831C>T (p.Asn277=) single nucleotide variant not provided [RCV000934378] ChrX:48905078 [GRCh38]
ChrX:48762355 [GRCh37]
ChrX:Xp11.23
likely benign
NM_005660.3(SLC35A2):c.577C>A (p.Arg193=) single nucleotide variant not provided [RCV000934739] ChrX:48905332 [GRCh38]
ChrX:48762609 [GRCh37]
ChrX:Xp11.23
likely benign
NM_005660.3(SLC35A2):c.253C>T (p.Leu85=) single nucleotide variant SLC35A2-CDG [RCV000935574] ChrX:48909835 [GRCh38]
ChrX:48767112 [GRCh37]
ChrX:Xp11.23
likely benign
NM_005660.3(SLC35A2):c.252G>A (p.Leu84=) single nucleotide variant not provided [RCV000999418] ChrX:48909836 [GRCh38]
ChrX:48767113 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_005660.3(SLC35A2):c.941G>A (p.Arg314His) single nucleotide variant SLC35A2-CDG [RCV001229116] ChrX:48904968 [GRCh38]
ChrX:48762245 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_005660.3(SLC35A2):c.1096G>T (p.Gly366Trp) single nucleotide variant SLC35A2-CDG [RCV001071636] ChrX:48904813 [GRCh38]
ChrX:48762090 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48307437-50657313)x3 copy number gain not provided [RCV001007303] ChrX:48307437..50657313 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
NM_005660.3(SLC35A2):c.615C>T (p.Ala205=) single nucleotide variant not provided [RCV001200323] ChrX:48905294 [GRCh38]
ChrX:48762571 [GRCh37]
ChrX:Xp11.23
likely benign
NM_005660.3(SLC35A2):c.982G>A (p.Ala328Thr) single nucleotide variant not provided [RCV001200322] ChrX:48904927 [GRCh38]
ChrX:48762204 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_005660.3(SLC35A2):c.465C>G (p.Phe155Leu) single nucleotide variant not provided [RCV001091498] ChrX:48905444 [GRCh38]
ChrX:48762721 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_005660.3(SLC35A2):c.1112C>T (p.Pro371Leu) single nucleotide variant SLC35A2-CDG [RCV001204715] ChrX:48904797 [GRCh38]
ChrX:48762074 [GRCh37]
ChrX:Xp11.23
benign|uncertain significance
NM_005660.3(SLC35A2):c.562G>A (p.Gly188Ser) single nucleotide variant SLC35A2-CDG [RCV001211097] ChrX:48905347 [GRCh38]
ChrX:48762624 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_005660.3(SLC35A2):c.947_948del (p.Phe316fs) deletion SLC35A2-CDG [RCV001063440] ChrX:48904961..48904962 [GRCh38]
ChrX:48762238..48762239 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_005660.3(SLC35A2):c.700C>T (p.Arg234Cys) single nucleotide variant SLC35A2-CDG [RCV001070846] ChrX:48905209 [GRCh38]
ChrX:48762486 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48102202-52685635)x2 copy number gain not provided [RCV001258953] ChrX:48102202..52685635 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48178413-52686510)x2 copy number gain not provided [RCV001258954] ChrX:48178413..52686510 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
NM_005660.3(SLC35A2):c.335C>G (p.Thr112Arg) single nucleotide variant Inborn genetic diseases [RCV001267207] ChrX:48906483 [GRCh38]
ChrX:48763760 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_005660.3(SLC35A2):c.696G>A (p.Trp232Ter) single nucleotide variant SLC35A2-CDG [RCV001265566] ChrX:48905213 [GRCh38]
ChrX:48762490 [GRCh37]
ChrX:Xp11.23
pathogenic
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_005660.3(SLC35A2):c.1025G>A (p.Arg342Gln) single nucleotide variant SLC35A2-CDG [RCV001338780] ChrX:48904884 [GRCh38]
ChrX:48762161 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_005660.3(SLC35A2):c.340A>T (p.Lys114Ter) single nucleotide variant SLC35A2-CDG [RCV001331522] ChrX:48906478 [GRCh38]
ChrX:48763755 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_005660.3(SLC35A2):c.177G>C (p.Thr59=) single nucleotide variant not provided [RCV001311071] ChrX:48909911 [GRCh38]
ChrX:48767188 [GRCh37]
ChrX:Xp11.23
likely benign
NM_005660.3(SLC35A2):c.991_993del (p.Val331del) deletion SLC35A2-CDG [RCV001346389] ChrX:48904916..48904918 [GRCh38]
ChrX:48762193..48762195 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_005660.3(SLC35A2):c.989T>C (p.Leu330Pro) single nucleotide variant SLC35A2-CDG [RCV001289474] ChrX:48904920 [GRCh38]
ChrX:48762197 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_005660.3(SLC35A2):c.1050TGCCTC[3] (p.349AS[5]) microsatellite SLC35A2-CDG [RCV001306706] ChrX:48904847..48904848 [GRCh38]
ChrX:48762124..48762125 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NC_000023.10:g.(?_48382160)_(49856876_?)dup duplication Neurodegeneration with brain iron accumulation 5 [RCV001305099]|SLC35A2-CDG [RCV001308190] ChrX:48382160..49856876 [GRCh37]
ChrX:Xp11.23-11.22
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11022 AgrOrtholog
COSMIC SLC35A2 COSMIC
Ensembl Genes ENSG00000102100 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000247138 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000365695 UniProtKB/TrEMBL
  ENSP00000365698 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000365704 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000365712 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000393233 UniProtKB/TrEMBL
  ENSP00000402726 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000415518 UniProtKB/TrEMBL
  ENSP00000416002 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000478617 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000489089 UniProtKB/TrEMBL
  ENSP00000489197 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000489339 UniProtKB/TrEMBL
  ENSP00000489356 UniProtKB/TrEMBL
  ENSP00000489440 UniProtKB/TrEMBL
  ENSP00000489484 UniProtKB/Swiss-Prot
  ENSP00000489515 UniProtKB/TrEMBL
  ENSP00000489613 UniProtKB/TrEMBL
Ensembl Transcript ENST00000247138 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000376512 UniProtKB/TrEMBL
  ENST00000376515 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000376521 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000376529 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000413561 UniProtKB/TrEMBL
  ENST00000445167 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000446885 UniProtKB/TrEMBL
  ENST00000452555 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000616181 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000634461 UniProtKB/TrEMBL
  ENST00000634665 UniProtKB/TrEMBL
  ENST00000635015 UniProtKB/TrEMBL
  ENST00000635238 UniProtKB/TrEMBL
  ENST00000635285 UniProtKB/Swiss-Prot
  ENST00000635460 UniProtKB/TrEMBL
  ENST00000635589 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000635628 UniProtKB/TrEMBL
GTEx ENSG00000102100 GTEx
HGNC ID HGNC:11022 ENTREZGENE
Human Proteome Map SLC35A2 Human Proteome Map
InterPro Nuc_sug_transpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7355 UniProtKB/Swiss-Prot
NCBI Gene 7355 ENTREZGENE
OMIM 300896 OMIM
  314375 OMIM
PANTHER PTHR10231 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Nuc_sug_transp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35890 PharmGKB, RGD
PIRSF UDP-gal_transpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0U1RR48_HUMAN UniProtKB/TrEMBL
  A0A0U1RR61_HUMAN UniProtKB/TrEMBL
  A0A0U1RRB4_HUMAN UniProtKB/TrEMBL
  A0A0U1RRG4_HUMAN UniProtKB/TrEMBL
  A0A0U1RRN1_HUMAN UniProtKB/TrEMBL
  A0A0X1KG77_HUMAN UniProtKB/TrEMBL
  A6NFI1 ENTREZGENE, UniProtKB/TrEMBL
  A6NGW4_HUMAN UniProtKB/TrEMBL
  A6NKM8 ENTREZGENE, UniProtKB/TrEMBL
  B4DE15 ENTREZGENE, UniProtKB/TrEMBL
  B4DSH7_HUMAN UniProtKB/TrEMBL
  C9JCV5_HUMAN UniProtKB/TrEMBL
  P78381 ENTREZGENE
  Q6ICV6_HUMAN UniProtKB/TrEMBL
  S35A2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A8K2L9 UniProtKB/Swiss-Prot
  A8K9V1 UniProtKB/Swiss-Prot
  B4DE11 UniProtKB/Swiss-Prot
  B4DPT2 UniProtKB/Swiss-Prot
  E7EW45 UniProtKB/Swiss-Prot
  Q8IV21 UniProtKB/Swiss-Prot
  Q92553 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-08 SLC35A2  solute carrier family 35 member A2    solute carrier family 35 (UDP-galactose transporter), member A2  Symbol and/or name change 5135510 APPROVED