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:11022
Description: Predicted to enable UDP-galactose transmembrane transporter activity. Involved in UDP-galactose transmembrane transport. Located in Golgi membrane and nucleoplasm. Part of endoplasmic reticulum. Implicated in congenital disorder of glycosylation type IIm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously 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
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X48,903,183 - 48,911,958 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX48,903,180 - 48,911,958 (-)EnsemblGRCh38hg38GRCh38
GRCh37X48,760,460 - 48,769,235 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X48,645,403 - 48,654,179 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X48,516,706 - 48,525,165NCBI
CeleraX52,894,294 - 52,903,071 (+)NCBICelera
Cytogenetic MapXp11.23NCBI
HuRefX46,416,492 - 46,425,389 (-)NCBIHuRef
CHM1_1X48,791,601 - 48,800,377 (-)NCBICHM1_1
T2T-CHM13v2.0X48,313,659 - 48,322,434 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cerebral white matter morphology  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal glycosylation  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormal isoelectric focusing of serum transferrin  (IAGP)
Abnormal long bone morphology  (IAGP)
Abnormal midbrain morphology  (IAGP)
Abnormal renal morphology  (IAGP)
Abnormality of the eye  (IAGP)
Abnormality of the hand  (IAGP)
Abnormality of the immune system  (IAGP)
Abnormality of the nervous system  (IAGP)
Abnormality of the respiratory system  (IAGP)
Abnormality of the skeletal system  (IAGP)
Abnormality of the skin  (IAGP)
Absent speech  (IAGP)
Anisometropia  (IAGP)
Aplasia/hypoplasia involving bones of the extremities  (IAGP)
Atrial septal defect  (IAGP)
Atrophy/Degeneration affecting the brainstem  (IAGP)
Autism  (IAGP)
Axial hypotonia  (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 CNS myelination  (IAGP)
Delayed myelination  (IAGP)
EEG with focal epileptiform discharges  (IAGP)
Elevated brain N-acetyl aspartate level by MRS  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
Elevated circulating thyroid-stimulating hormone concentration  (IAGP)
Enamel hypoplasia  (IAGP)
Enlarged cisterna magna  (IAGP)
Epicanthus  (IAGP)
Epileptic encephalopathy  (IAGP)
Epileptic spasm  (IAGP)
Exaggerated cupid's bow  (IAGP)
Exotropia  (IAGP)
Failure to thrive in infancy  (IAGP)
Feeding difficulties  (IAGP)
Full cheeks  (IAGP)
Fused teeth  (IAGP)
Gastroesophageal reflux  (IAGP)
Global developmental delay  (IAGP)
High palate  (IAGP)
Hip subluxation  (IAGP)
Hypertension  (IAGP)
Hypopigmentation of the skin  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplastic hippocampus  (IAGP)
Hypotonia  (IAGP)
Hypsarrhythmia  (IAGP)
Inability to walk  (IAGP)
Increased circulating thyroglobulin concentration  (IAGP)
Infantile muscular hypotonia  (IAGP)
Infantile spasms  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, severe  (IAGP)
Intrauterine growth retardation  (IAGP)
Inverted nipples  (IAGP)
Joint hypermobility  (IAGP)
Lateral ventricle dilatation  (IAGP)
Limb joint contracture  (IAGP)
Mandibular prognathia  (IAGP)
Metatarsus adductus  (IAGP)
Microcephaly  (IAGP)
Nasogastric tube feeding  (IAGP)
Neonatal hyperbilirubinemia  (IAGP)
Neonatal onset  (IAGP)
Nystagmus  (IAGP)
Ocular flutter  (IAGP)
Oligohydramnios  (IAGP)
Open mouth  (IAGP)
Osteopenia  (IAGP)
Paroxysmal involuntary eye movements  (IAGP)
Poor head control  (IAGP)
Precocious puberty  (IAGP)
Pregnancy history  (IAGP)
Recurrent infections  (IAGP)
Rod-cone dystrophy  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short corpus callosum  (IAGP)
Short philtrum  (IAGP)
Short stature  (IAGP)
Short tibia  (IAGP)
Spastic tetraparesis  (IAGP)
Strabismus  (IAGP)
Talipes equinovarus  (IAGP)
Tetralogy of Fallot  (IAGP)
Thick eyebrow  (IAGP)
Thick vermilion border  (IAGP)
Thickened nuchal skin fold  (IAGP)
Transient nephrotic syndrome  (IAGP)
Typified by somatic mosaicism  (IAGP)
Ureteropelvic junction obstruction  (IAGP)
Vesicovaginal fistula  (IAGP)
Wide nasal bridge  (IAGP)
X-linked dominant inheritance  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:3561849   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:28167211   PMID:28514442   PMID:28692057   PMID:28986522   PMID:29679388   PMID:29907092   PMID:30194290   PMID:30639242   PMID:30746764  
PMID:30817854   PMID:32296183   PMID:32605344   PMID:32694731   PMID:33407896   PMID:33845483   PMID:33961781   PMID:34079125   PMID:34161696   PMID:34384782   PMID:34432599   PMID:35696571  
PMID:35748872   PMID:36307217   PMID:36454514   PMID:36543142   PMID:36724073   PMID:36933771   PMID:37739137   PMID:37774976   PMID:38117590   PMID:38143314  


Genomics

Comparative Map Data
SLC35A2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X48,903,183 - 48,911,958 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX48,903,180 - 48,911,958 (-)EnsemblGRCh38hg38GRCh38
GRCh37X48,760,460 - 48,769,235 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X48,645,403 - 48,654,179 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X48,516,706 - 48,525,165NCBI
CeleraX52,894,294 - 52,903,071 (+)NCBICelera
Cytogenetic MapXp11.23NCBI
HuRefX46,416,492 - 46,425,389 (-)NCBIHuRef
CHM1_1X48,791,601 - 48,800,377 (-)NCBICHM1_1
T2T-CHM13v2.0X48,313,659 - 48,322,434 (-)NCBIT2T-CHM13v2.0
Slc35a2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X7,750,189 - 7,760,699 (+)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX7,750,267 - 7,760,731 (+)EnsemblGRCm39 Ensembl
GRCm38X7,883,921 - 7,894,492 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX7,884,028 - 7,894,492 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X7,461,370 - 7,471,618 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X7,041,203 - 7,051,364 (+)NCBIMGSCv36mm8
CeleraX3,575,406 - 3,585,656 (-)NCBICelera
Cytogenetic MapXA1.1NCBI
cM MapX3.56NCBI
Slc35a2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X17,280,072 - 17,288,928 (-)NCBIGRCr8
mRatBN7.2X14,608,145 - 14,616,937 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX14,608,055 - 14,616,678 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX19,421,690 - 19,430,223 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X20,652,888 - 20,661,421 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X16,918,058 - 16,926,591 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X15,453,184 - 15,461,990 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX15,453,186 - 15,461,713 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X16,234,419 - 16,243,248 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X26,642,694 - 26,651,223 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
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
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X50,392,307 - 50,400,854 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X50,395,823 - 50,405,546 (-)NCBINHGRI_mPanPan1
PanPan1.1 EnsemblX49,058,622 - 49,067,821 (-)Ensemblpanpan1.1panPan2
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 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X42,196,798 - 42,207,560 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX42,186,311 - 42,207,558 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X42,184,671 - 42,193,444 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X42,172,953 - 42,181,735 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X42,267,160 - 42,275,933 (-)NCBIUU_Cfam_GSD_1.0
Slc35a2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X34,589,680 - 34,598,671 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936721830,042 - 838,866 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936721830,067 - 838,783 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC35A2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX42,981,802 - 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 - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X46,020,241 - 46,030,205 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX46,017,681 - 46,030,200 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607611,505,352 - 11,516,839 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc35a2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624893684,481 - 694,130 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624893684,307 - 694,113 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC35A2
263 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005660.3(SLC35A2):c.958G>T (p.Val320Leu) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV000554593] ChrX:48904951 [GRCh38]
ChrX:48762228 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.275-16TCC[2] microsatellite SLC35A2-congenital disorder of glycosylation [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-congenital disorder of glycosylation [RCV000542094] ChrX:48904967 [GRCh38]
ChrX:48762244 [GRCh37]
ChrX:Xp11.23		 likely benign
SLC35A2:c.15_91+48delinsA indel SLC35A2-congenital disorder of glycosylation [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-congenital disorder of glycosylation [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-congenital disorder of glycosylation [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-congenital disorder of glycosylation [RCV000122744] ChrX:48905475..48905476 [GRCh38]
ChrX:48762752..48762753 [GRCh37]
ChrX:Xp11.23		 pathogenic
NM_005660.3(SLC35A2):c.972del (p.Phe324fs) deletion SLC35A2-congenital disorder of glycosylation [RCV000122745] ChrX:48904937 [GRCh38]
ChrX:48762214 [GRCh37]
ChrX:Xp11.23		 pathogenic
NM_005660.3(SLC35A2):c.638C>T (p.Ser213Phe) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV000122746] ChrX:48905271 [GRCh38]
ChrX:48762548 [GRCh37]
ChrX:Xp11.23		 pathogenic
NM_001282648.2(SLC35A2):c.-81_202+1del deletion SLC35A2-congenital disorder of glycosylation [RCV001374457] ChrX:48909813..48911958 [GRCh38]
ChrX:48767090..48769235 [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-congenital disorder of glycosylation [RCV000210405] ChrX:48905109 [GRCh38]
ChrX:48762386 [GRCh37]
ChrX:Xp11.23		 likely pathogenic
NM_005660.3(SLC35A2):c.747G>A (p.Gly249=) single nucleotide variant Inborn genetic diseases [RCV002390609]|SLC35A2-congenital disorder of glycosylation [RCV000229740] ChrX:48905162 [GRCh38]
ChrX:48762439 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.12T>G (p.Val4=) single nucleotide variant Inborn genetic diseases [RCV002317759]|SLC35A2-congenital disorder of glycosylation [RCV000225834]|not provided [RCV002274942] 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 Inborn genetic diseases [RCV002429215]|SLC35A2-congenital disorder of glycosylation [RCV002521886]|not provided [RCV000377201] ChrX:48905083 [GRCh38]
ChrX:48762360 [GRCh37]
ChrX:Xp11.23		 benign|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.Ala355_Ser356insCysLeu) microsatellite Developmental and epileptic encephalopathy, 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-congenital disorder of glycosylation [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-congenital disorder of glycosylation [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 SLC35A2-congenital disorder of glycosylation [RCV001455458] ChrX:48909986 [GRCh38]
ChrX:48767263 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.634TCC[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-congenital disorder of glycosylation [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 SLC35A2-congenital disorder of glycosylation [RCV003741215]|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 Inborn genetic diseases [RCV002318428]|SLC35A2-congenital disorder of glycosylation [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 Inborn genetic diseases [RCV002311462]|SLC35A2-congenital disorder of glycosylation [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 Inborn genetic diseases [RCV002374674]|SLC35A2-congenital disorder of glycosylation [RCV001347966]|not specified [RCV000421392] ChrX:48911547 [GRCh38]
ChrX:48768824 [GRCh37]
ChrX:Xp11.23		 benign|likely benign|uncertain significance
NM_005660.3(SLC35A2):c.594C>T (p.Asn198=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001461606]|not provided [RCV000864803] ChrX:48905315 [GRCh38]
ChrX:48762592 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.1A>G (p.Met1Val) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV002286410]|not provided [RCV000427117] ChrX:48911636 [GRCh38]
ChrX:48768913 [GRCh37]
ChrX:Xp11.23		 pathogenic|likely pathogenic
NM_005660.3(SLC35A2):c.990C>T (p.Leu330=) single nucleotide variant Inborn genetic diseases [RCV002318423]|SLC35A2-congenital disorder of glycosylation [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.1058CCTCCG[1] (p.349AS[3]) microsatellite SLC35A2-congenital disorder of glycosylation [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-congenital disorder of glycosylation [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-congenital disorder of glycosylation [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-congenital disorder of glycosylation [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|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 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-congenital disorder of glycosylation [RCV000766228] ChrX:48909855 [GRCh38]
ChrX:48767132 [GRCh37]
ChrX:Xp11.23		 pathogenic
NM_005660.3(SLC35A2):c.30C>G (p.Thr10=) single nucleotide variant Inborn genetic diseases [RCV002324046]|SLC35A2-congenital disorder of glycosylation [RCV000524549]|SLC35A2-related condition [RCV003905442]|not provided [RCV001568926]|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 SLC35A2-congenital disorder of glycosylation [RCV001421492]|not provided [RCV000863765]|not specified [RCV000613885] ChrX:48905462 [GRCh38]
ChrX:48762739 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_001042498.2(SLC35A2):c.-19G>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 Inborn genetic diseases [RCV002413706]|SLC35A2-congenital disorder of glycosylation [RCV000885007]|not provided [RCV002063005]|not specified [RCV000611329] ChrX:48904847 [GRCh38]
ChrX:48762124 [GRCh37]
ChrX:Xp11.23		 benign|likely benign
NM_005660.2(SLC35A2):c.-40dup 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-congenital disorder of glycosylation [RCV000651307] ChrX:48906470 [GRCh38]
ChrX:48763747 [GRCh37]
ChrX:Xp11.23		 pathogenic
NM_005660.3(SLC35A2):c.852G>T (p.Leu284=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [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-congenital disorder of glycosylation [RCV000651311] ChrX:48905159 [GRCh38]
ChrX:48762436 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.981C>T (p.Gly327=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001443972] ChrX:48904928 [GRCh38]
ChrX:48762205 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.639C>T (p.Ser213=) single nucleotide variant Inborn genetic diseases [RCV002315972]|SLC35A2-congenital disorder of glycosylation [RCV000651313] ChrX:48905270 [GRCh38]
ChrX:48762547 [GRCh37]
ChrX:Xp11.23		 benign|likely benign
NC_000023.10:g.(?_48542223)_(48768933_?)dup duplication SLC35A2-congenital disorder of glycosylation [RCV000651314] ChrX:48542223..48768933 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NC_000023.10:g.(?_48755773)_(48935774_?)dup duplication SLC35A2-congenital disorder of glycosylation [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 SLC35A2-congenital disorder of glycosylation [RCV001511787]|not provided [RCV000513019] ChrX:48904870 [GRCh38]
ChrX:48762147 [GRCh37]
ChrX:Xp11.23		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005660.3(SLC35A2):c.1078G>A (p.Val360Ile) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV000651310]|not provided [RCV003437306]|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-congenital disorder of glycosylation [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-congenital disorder of glycosylation [RCV000691195] ChrX:48905386 [GRCh38]
ChrX:48762663 [GRCh37]
ChrX:Xp11.23		 conflicting interpretations of pathogenicity|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 Inborn genetic diseases [RCV002318060]|SLC35A2-congenital disorder of glycosylation [RCV001056605] ChrX:48909919 [GRCh38]
ChrX:48767196 [GRCh37]
ChrX:Xp11.23		 benign|uncertain significance
NM_005660.3(SLC35A2):c.1056T>C (p.Ser352=) single nucleotide variant Inborn genetic diseases [RCV002318788]|SLC35A2-congenital disorder of glycosylation [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-congenital disorder of glycosylation [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 Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
NM_005660.3(SLC35A2):c.579G>A (p.Arg193=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001471098] ChrX:48905330 [GRCh38]
ChrX:48762607 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.72G>T (p.Glu24Asp) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV000861439]|SLC35A2-related condition [RCV003948055]|not provided [RCV001813805] ChrX:48911565 [GRCh38]
ChrX:48768842 [GRCh37]
ChrX:Xp11.23		 benign|likely benign
NM_005660.3(SLC35A2):c.584T>G (p.Leu195Arg) single nucleotide variant Inborn genetic diseases [RCV002536590]|not provided [RCV000762634] ChrX:48905325 [GRCh38]
ChrX:48762602 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.520CTC[1] (p.Leu175del) microsatellite SLC35A2-congenital disorder of glycosylation [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-congenital disorder of glycosylation [RCV001066955] ChrX:48911563 [GRCh38]
ChrX:48768840 [GRCh37]
ChrX:Xp11.23		 benign|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-congenital disorder of glycosylation [RCV001037501]|not provided [RCV000999416] ChrX:48905331 [GRCh38]
ChrX:48762608 [GRCh37]
ChrX:Xp11.23		 benign|uncertain significance
NM_005660.3(SLC35A2):c.8C>T (p.Ala3Val) single nucleotide variant SLC35A2-congenital disorder of glycosylation [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 SLC35A2-congenital disorder of glycosylation [RCV001478193] ChrX:48909866 [GRCh38]
ChrX:48767143 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.1146G>A (p.Thr382=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001485543] 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 SLC35A2-congenital disorder of glycosylation [RCV001483425] ChrX:48906482 [GRCh38]
ChrX:48763759 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.837_843del (p.Phe280fs) deletion SLC35A2-congenital disorder of glycosylation [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 Inborn genetic diseases [RCV002551417]|SLC35A2-congenital disorder of glycosylation [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 circulating creatine kinase concentration [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3		 likely pathogenic
NM_005660.3(SLC35A2):c.771C>T (p.Ala257=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001520046] 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-congenital disorder of glycosylation [RCV000802532]|not provided [RCV001585728] ChrX:48905412 [GRCh38]
ChrX:48762689 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.580C>A (p.Pro194Thr) single nucleotide variant SLC35A2-congenital disorder of glycosylation [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-congenital disorder of glycosylation [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-congenital disorder of glycosylation [RCV000800725]|not provided [RCV001509119] 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-congenital disorder of glycosylation [RCV000791153] ChrX:48905424 [GRCh38]
ChrX:48762701 [GRCh37]
ChrX:Xp11.23		 conflicting interpretations of pathogenicity|uncertain significance
NM_005660.3(SLC35A2):c.634_635del (p.Ser212fs) microsatellite SLC35A2-congenital disorder of glycosylation [RCV000785980]|non-lesional focal epilepsy [RCV001849444] ChrX:48905274..48905275 [GRCh38]
ChrX:48762551..48762552 [GRCh37]
ChrX:Xp11.23		 pathogenic|likely pathogenic
NM_005660.3(SLC35A2):c.1096G>A (p.Gly366Arg) single nucleotide variant SLC35A2-congenital disorder of glycosylation [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 Inborn genetic diseases [RCV002539056]|SLC35A2-congenital disorder of glycosylation [RCV000869868] ChrX:48904779 [GRCh38]
ChrX:48762056 [GRCh37]
ChrX:Xp11.23		 benign|likely benign
NM_005660.3(SLC35A2):c.828C>T (p.Leu276=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [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 SLC35A2-congenital disorder of glycosylation [RCV001858432]|not provided [RCV000838714] ChrX:48905218 [GRCh38]
ChrX:48762495 [GRCh37]
ChrX:Xp11.23		 likely benign|uncertain significance
NM_005660.3(SLC35A2):c.324G>A (p.Gln108=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV000979716] ChrX:48906494 [GRCh38]
ChrX:48763771 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.1050TGCCTC[1] (p.349AS[3]) microsatellite SLC35A2-congenital disorder of glycosylation [RCV001065734] ChrX:48904848..48904853 [GRCh38]
ChrX:48762125..48762130 [GRCh37]
ChrX:Xp11.23		 benign|uncertain significance
NM_005660.3(SLC35A2):c.818G>C (p.Gly273Ala) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001049784]|not provided [RCV000999415] ChrX:48905091 [GRCh38]
ChrX:48762368 [GRCh37]
ChrX:Xp11.23		 benign|likely benign|conflicting interpretations of pathogenicity|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-congenital disorder of glycosylation [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-congenital disorder of glycosylation [RCV001206300] ChrX:48905090 [GRCh38]
ChrX:48762367 [GRCh37]
ChrX:Xp11.23		 benign|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 Inborn genetic diseases [RCV002372724]|SLC35A2-congenital disorder of glycosylation [RCV002068744]|not provided [RCV000999414] ChrX:48904943 [GRCh38]
ChrX:48762220 [GRCh37]
ChrX:Xp11.23		 likely benign|uncertain significance
NM_005660.3(SLC35A2):c.92-7C>G single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001450426]|not provided [RCV000999419] ChrX:48910003 [GRCh38]
ChrX:48767280 [GRCh37]
ChrX:Xp11.23		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005660.3(SLC35A2):c.389_391del (p.Tyr130_Val131delinsPhe) deletion SLC35A2-congenital disorder of glycosylation [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-congenital disorder of glycosylation [RCV000990816] ChrX:48909960 [GRCh38]
ChrX:48767237 [GRCh37]
ChrX:Xp11.23		 likely pathogenic
NM_005660.3(SLC35A2):c.844G>A (p.Gly282Arg) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV002557952]|not provided [RCV001091019] ChrX:48905065 [GRCh38]
ChrX:48762342 [GRCh37]
ChrX:Xp11.23		 pathogenic|likely 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 Xp22.33-q28(chrX:200855-155240074) copy number gain Klinefelter syndrome [RCV003236730] ChrX:200855..155240074 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NC_000023.10:g.(?_47001716)_(50659607_?)dup duplication Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders [RCV003122411]|Neurodegeneration with brain iron accumulation 5 [RCV003105408]|SLC35A2-congenital disorder of glycosylation [RCV003122412] ChrX:47001716..50659607 [GRCh37]
ChrX:Xp11.23-11.22		 uncertain significance
NM_005660.3(SLC35A2):c.1147G>A (p.Glu383Lys) single nucleotide variant not provided [RCV003318123] ChrX:48904762 [GRCh38]
ChrX:48762039 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.1099C>A (p.Gln367Lys) single nucleotide variant Inborn genetic diseases [RCV002568362]|SLC35A2-congenital disorder of glycosylation [RCV003741265]|SLC35A2-related condition [RCV003921213]|not provided [RCV001556659] ChrX:48904810 [GRCh38]
ChrX:48762087 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.31G>T (p.Ala11Ser) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001907707] ChrX:48911606 [GRCh38]
ChrX:48768883 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.59C>T (p.Ala20Val) single nucleotide variant not provided [RCV001568089] ChrX:48911578 [GRCh38]
ChrX:48768855 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.426+188= single nucleotide variant not provided [RCV001652449] ChrX:48906204 [GRCh38]
ChrX:48763481 [GRCh37]
ChrX:Xp11.23		 benign
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 SLC35A2-congenital disorder of glycosylation [RCV002536785] ChrX:48905375 [GRCh38]
ChrX:48762652 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.1063G>A (p.Ala355Thr) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001523443] ChrX:48904846 [GRCh38]
ChrX:48762123 [GRCh37]
ChrX:Xp11.23		 benign
NM_005660.3(SLC35A2):c.275-9C>A single nucleotide variant SLC35A2-congenital disorder of glycosylation [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-congenital disorder of glycosylation [RCV001219843] ChrX:48905068 [GRCh38]
ChrX:48762345 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.831C>T (p.Asn277=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001409121] ChrX:48905078 [GRCh38]
ChrX:48762355 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.577C>A (p.Arg193=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001432806] ChrX:48905332 [GRCh38]
ChrX:48762609 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.253C>T (p.Leu85=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV000935574] ChrX:48909835 [GRCh38]
ChrX:48767112 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.252G>A (p.Leu84=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001488643]|not provided [RCV000999418] ChrX:48909836 [GRCh38]
ChrX:48767113 [GRCh37]
ChrX:Xp11.23		 likely benign|uncertain significance
NM_005660.3(SLC35A2):c.426+65A>G single nucleotide variant not provided [RCV001581042] ChrX:48906327 [GRCh38]
ChrX:48763604 [GRCh37]
ChrX:Xp11.23		 likely benign
GRCh37/hg19 Xp11.23-11.22(chrX:47179068-54424785)x2 copy number gain not provided [RCV001537899] ChrX:47179068..54424785 [GRCh37]
ChrX:Xp11.23-11.22		 pathogenic
NC_000023.11:g.48912103= single nucleotide variant not provided [RCV001659194] ChrX:48912103 [GRCh38]
ChrX:48769380 [GRCh37]
ChrX:Xp11.23		 benign
NM_005660.3(SLC35A2):c.941G>A (p.Arg314His) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001229116] ChrX:48904968 [GRCh38]
ChrX:48762245 [GRCh37]
ChrX:Xp11.23		 benign|uncertain significance
NM_005660.3(SLC35A2):c.1096G>T (p.Gly366Trp) single nucleotide variant SLC35A2-congenital disorder of glycosylation [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
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_005660.2(SLC35A2):c.-190T>G single nucleotide variant not provided [RCV001725292] ChrX:48911826 [GRCh38]
ChrX:48769103 [GRCh37]
ChrX:Xp11.23		 benign
NM_005660.3(SLC35A2):c.1164-51G>A single nucleotide variant not provided [RCV001651590] ChrX:48903516 [GRCh38]
ChrX:48760793 [GRCh37]
ChrX:Xp11.23		 benign
NM_005660.3(SLC35A2):c.615C>T (p.Ala205=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001470052]|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 SLC35A2-congenital disorder of glycosylation [RCV003741248]|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-congenital disorder of glycosylation [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-congenital disorder of glycosylation [RCV001211097]|not provided [RCV002255177] ChrX:48905347 [GRCh38]
ChrX:48762624 [GRCh37]
ChrX:Xp11.23		 likely pathogenic|benign|uncertain significance
NM_005660.3(SLC35A2):c.947_948del (p.Phe316fs) deletion SLC35A2-congenital disorder of glycosylation [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 Inborn genetic diseases [RCV002365781]|SLC35A2-congenital disorder of glycosylation [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
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
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_005660.3(SLC35A2):c.696G>A (p.Trp232Ter) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001265566] ChrX:48905213 [GRCh38]
ChrX:48762490 [GRCh37]
ChrX:Xp11.23		 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
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 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-congenital disorder of glycosylation [RCV001338780] ChrX:48904884 [GRCh38]
ChrX:48762161 [GRCh37]
ChrX:Xp11.23		 benign|uncertain significance
NM_005660.3(SLC35A2):c.340A>T (p.Lys114Ter) single nucleotide variant SLC35A2-congenital disorder of glycosylation [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.566G>A (p.Gly189Glu) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001359855]|not provided [RCV003222310] ChrX:48905343 [GRCh38]
ChrX:48762620 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.991_993del (p.Val331del) deletion SLC35A2-congenital disorder of glycosylation [RCV001346389] ChrX:48904916..48904918 [GRCh38]
ChrX:48762193..48762195 [GRCh37]
ChrX:Xp11.23		 pathogenic|uncertain significance
NM_005660.3(SLC35A2):c.101G>A (p.Arg34His) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001364069] ChrX:48909987 [GRCh38]
ChrX:48767264 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.989T>C (p.Leu330Pro) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001289474] ChrX:48904920 [GRCh38]
ChrX:48762197 [GRCh37]
ChrX:Xp11.23		 likely pathogenic
NM_005660.3(SLC35A2):c.1050TGCCTC[3] (p.349AS[5]) microsatellite SLC35A2-congenital disorder of glycosylation [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
NM_005660.3(SLC35A2):c.426+1G>A single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001374455] ChrX:48906391 [GRCh38]
ChrX:48763668 [GRCh37]
ChrX:Xp11.23		 pathogenic
NC_000023.10:g.(?_48382160)_(49856876_?)dup duplication Neurodegeneration with brain iron accumulation 5 [RCV001305099]|SLC35A2-congenital disorder of glycosylation [RCV001308190] ChrX:48382160..49856876 [GRCh37]
ChrX:Xp11.23-11.22		 uncertain significance
NM_005660.3(SLC35A2):c.781del (p.Arg261fs) deletion SLC35A2-congenital disorder of glycosylation [RCV001374456] ChrX:48905128 [GRCh38]
ChrX:48762405 [GRCh37]
ChrX:Xp11.23		 pathogenic
NM_005660.3(SLC35A2):c.601del (p.Ala201fs) deletion SLC35A2-congenital disorder of glycosylation [RCV001374458] ChrX:48905308 [GRCh38]
ChrX:48762585 [GRCh37]
ChrX:Xp11.23		 pathogenic
NM_005660.3(SLC35A2):c.1077C>T (p.Cys359=) single nucleotide variant Inborn genetic diseases [RCV002420925]|SLC35A2-congenital disorder of glycosylation [RCV001412766] ChrX:48904832 [GRCh38]
ChrX:48762109 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.1129C>T (p.Arg377Cys) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV002070238]|not provided [RCV001358343] ChrX:48904780 [GRCh38]
ChrX:48762057 [GRCh37]
ChrX:Xp11.23		 benign|likely benign
NM_005660.3(SLC35A2):c.801C>T (p.Tyr267=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001482257] ChrX:48905108 [GRCh38]
ChrX:48762385 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.339C>G (p.Leu113=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001504890] ChrX:48906479 [GRCh38]
ChrX:48763756 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.279C>T (p.Asn93=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001511087]|SLC35A2-related condition [RCV003940893] ChrX:48906539 [GRCh38]
ChrX:48763816 [GRCh37]
ChrX:Xp11.23		 benign|likely benign
NM_005660.3(SLC35A2):c.216C>T (p.Val72=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001462879] ChrX:48909872 [GRCh38]
ChrX:48767149 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.327T>G (p.Tyr109Ter) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001385378] ChrX:48906491 [GRCh38]
ChrX:48763768 [GRCh37]
ChrX:Xp11.23		 pathogenic
NM_005660.3(SLC35A2):c.1015A>G (p.Ser339Gly) single nucleotide variant Inborn genetic diseases [RCV002568768]|SLC35A2-congenital disorder of glycosylation [RCV001523626] ChrX:48904894 [GRCh38]
ChrX:48762171 [GRCh37]
ChrX:Xp11.23		 benign|likely benign
NM_005660.3(SLC35A2):c.1069G>A (p.Gly357Arg) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001517306] ChrX:48904840 [GRCh38]
ChrX:48762117 [GRCh37]
ChrX:Xp11.23		 benign
NM_005660.3(SLC35A2):c.810T>C (p.Ala270=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001477053] ChrX:48905099 [GRCh38]
ChrX:48762376 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.201C>T (p.Ala67=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001415553] ChrX:48909887 [GRCh38]
ChrX:48767164 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.1110A>G (p.Pro370=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001521518] ChrX:48904799 [GRCh38]
ChrX:48762076 [GRCh37]
ChrX:Xp11.23		 benign
NM_005660.3(SLC35A2):c.747G>T (p.Gly249=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001393476] ChrX:48905162 [GRCh38]
ChrX:48762439 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.768C>T (p.Thr256=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001492034] ChrX:48905141 [GRCh38]
ChrX:48762418 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.369C>T (p.Thr123=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001445853] ChrX:48906449 [GRCh38]
ChrX:48763726 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.486C>T (p.Arg162=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001448563] ChrX:48905423 [GRCh38]
ChrX:48762700 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.429G>A (p.Val143=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001406949] ChrX:48905480 [GRCh38]
ChrX:48762757 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.656_660del (p.Val218_Tyr219insTer) deletion SLC35A2-congenital disorder of glycosylation [RCV001384855] ChrX:48905249..48905253 [GRCh38]
ChrX:48762526..48762530 [GRCh37]
ChrX:Xp11.23		 pathogenic
NC_000023.10:g.(?_48762413)_(48763384_?)del deletion SLC35A2-congenital disorder of glycosylation [RCV001384880] ChrX:48762413..48763384 [GRCh37]
ChrX:Xp11.23		 pathogenic
NM_005660.3(SLC35A2):c.1058CCTCCG[3] (p.349AS[5]) microsatellite SLC35A2-congenital disorder of glycosylation [RCV001418201] ChrX:48904839..48904840 [GRCh38]
ChrX:48762116..48762117 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.345C>T (p.Leu115=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001518814] ChrX:48906473 [GRCh38]
ChrX:48763750 [GRCh37]
ChrX:Xp11.23		 benign
NM_005660.3(SLC35A2):c.1145C>T (p.Thr382Met) single nucleotide variant Inborn genetic diseases [RCV003161047]|SLC35A2-congenital disorder of glycosylation [RCV001521064] ChrX:48904764 [GRCh38]
ChrX:48762041 [GRCh37]
ChrX:Xp11.23		 benign|likely benign
NM_005660.3(SLC35A2):c.1050T>C (p.Ser350=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001487896] ChrX:48904859 [GRCh38]
ChrX:48762136 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.1130G>C (p.Arg377Pro) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001516279] ChrX:48904779 [GRCh38]
ChrX:48762056 [GRCh37]
ChrX:Xp11.23		 benign
NM_005660.3(SLC35A2):c.1113G>A (p.Pro371=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001455882] ChrX:48904796 [GRCh38]
ChrX:48762073 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.92-6C>T single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001434700] ChrX:48910002 [GRCh38]
ChrX:48767279 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.873C>T (p.Tyr291=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001489167] ChrX:48905036 [GRCh38]
ChrX:48762313 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.724G>A (p.Gly242Ser) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001416887] ChrX:48905185 [GRCh38]
ChrX:48762462 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.1A>T (p.Met1Leu) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV002246722] ChrX:48911636 [GRCh38]
ChrX:48768913 [GRCh37]
ChrX:Xp11.23		 pathogenic
NM_005660.3(SLC35A2):c.1163+70G>A single nucleotide variant See cases [RCV002252506] ChrX:48904676 [GRCh38]
ChrX:48761953 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_001032382.2(PQBP1):c.640C>T (p.Arg214Trp) single nucleotide variant Renpenning syndrome [RCV002477949]|not provided [RCV001763279] ChrX:48902794 [GRCh38]
ChrX:48760071 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_001032382.2(PQBP1):c.758G>A (p.Arg253Gln) single nucleotide variant not provided [RCV001751874] ChrX:48903044 [GRCh38]
ChrX:48760321 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.1096_1163+217delinsCGGGAGG indel not provided [RCV001757139] ChrX:48904529..48904813 [GRCh38]
ChrX:48761806..48762090 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.803C>T (p.Thr268Ile) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001814875] ChrX:48905106 [GRCh38]
ChrX:48762383 [GRCh37]
ChrX:Xp11.23		 likely pathogenic
NM_001032382.2(PQBP1):c.649T>C (p.Trp217Arg) single nucleotide variant not provided [RCV001806476] ChrX:48902935 [GRCh38]
ChrX:48760212 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.747_757dup (p.Ala253fs) duplication non-lesional focal epilepsy [RCV001849583] ChrX:48905151..48905152 [GRCh38]
ChrX:48762428..48762429 [GRCh37]
ChrX:Xp11.23		 likely pathogenic
NM_005660.3(SLC35A2):c.1073C>T (p.Pro358Leu) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001949720] ChrX:48904836 [GRCh38]
ChrX:48762113 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.685G>A (p.Gly229Ser) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV002004717] ChrX:48905224 [GRCh38]
ChrX:48762501 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.164G>T (p.Arg55Leu) single nucleotide variant non-lesional focal epilepsy [RCV001849582] ChrX:48909924 [GRCh38]
ChrX:48767201 [GRCh37]
ChrX:Xp11.23		 likely pathogenic
NM_005660.3(SLC35A2):c.769G>A (p.Ala257Thr) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001892937] ChrX:48905140 [GRCh38]
ChrX:48762417 [GRCh37]
ChrX:Xp11.23		 uncertain significance
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_005660.3(SLC35A2):c.337_339dup (p.Leu113dup) duplication non-lesional focal epilepsy [RCV001849887] ChrX:48906478..48906479 [GRCh38]
ChrX:48763755..48763756 [GRCh37]
ChrX:Xp11.23		 likely pathogenic
NM_005660.3(SLC35A2):c.176C>T (p.Thr59Met) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001894161] ChrX:48909912 [GRCh38]
ChrX:48767189 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.820G>A (p.Val274Met) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001911559] ChrX:48905089 [GRCh38]
ChrX:48762366 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.910T>C (p.Ser304Pro) single nucleotide variant non-lesional focal epilepsy [RCV001849886] ChrX:48904999 [GRCh38]
ChrX:48762276 [GRCh37]
ChrX:Xp11.23		 likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_005660.3(SLC35A2):c.781C>T (p.Arg261Cys) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001924319] ChrX:48905128 [GRCh38]
ChrX:48762405 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.1100A>G (p.Gln367Arg) single nucleotide variant Inborn genetic diseases [RCV002563575]|SLC35A2-congenital disorder of glycosylation [RCV001989879] ChrX:48904809 [GRCh38]
ChrX:48762086 [GRCh37]
ChrX:Xp11.23		 likely benign|uncertain significance
NM_005660.3(SLC35A2):c.616G>A (p.Val206Ile) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001931379] ChrX:48905293 [GRCh38]
ChrX:48762570 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.197T>C (p.Phe66Ser) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001975578] ChrX:48909891 [GRCh38]
ChrX:48767168 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.136C>T (p.Gln46Ter) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001956129] ChrX:48909952 [GRCh38]
ChrX:48767229 [GRCh37]
ChrX:Xp11.23		 pathogenic
NM_005660.3(SLC35A2):c.385C>T (p.Gln129Ter) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001997611] ChrX:48906433 [GRCh38]
ChrX:48763710 [GRCh37]
ChrX:Xp11.23		 pathogenic
NM_005660.3(SLC35A2):c.1030G>A (p.Ala344Thr) single nucleotide variant Inborn genetic diseases [RCV002642185]|SLC35A2-congenital disorder of glycosylation [RCV002026038] ChrX:48904879 [GRCh38]
ChrX:48762156 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.194T>C (p.Phe65Ser) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001998629] ChrX:48909894 [GRCh38]
ChrX:48767171 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.1105C>T (p.Pro369Ser) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001938547] ChrX:48904804 [GRCh38]
ChrX:48762081 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.955C>T (p.His319Tyr) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV001907356] ChrX:48904954 [GRCh38]
ChrX:48762231 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.92-11G>A single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV002129681] ChrX:48910007 [GRCh38]
ChrX:48767284 [GRCh37]
ChrX:Xp11.23		 benign
NM_005660.3(SLC35A2):c.958G>A (p.Val320Met) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV002090552] ChrX:48904951 [GRCh38]
ChrX:48762228 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.187G>A (p.Asp63Asn) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV002106204] ChrX:48909901 [GRCh38]
ChrX:48767178 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.840C>T (p.Phe280=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV002208253] ChrX:48905069 [GRCh38]
ChrX:48762346 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.261C>T (p.Phe87=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV002214773] ChrX:48909827 [GRCh38]
ChrX:48767104 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.496C>T (p.Arg166Trp) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV002153043]|not provided [RCV002269391] ChrX:48905413 [GRCh38]
ChrX:48762690 [GRCh37]
ChrX:Xp11.23		 likely benign|uncertain significance
NM_005660.3(SLC35A2):c.957C>T (p.His319=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV002144924] ChrX:48904952 [GRCh38]
ChrX:48762229 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.112A>C (p.Ile38Leu) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV002090265] ChrX:48909976 [GRCh38]
ChrX:48767253 [GRCh37]
ChrX:Xp11.23		 benign
NM_005660.3(SLC35A2):c.1156C>T (p.Leu386=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV002094587] ChrX:48904753 [GRCh38]
ChrX:48762030 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.468C>T (p.Ser156=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV002173054] ChrX:48905441 [GRCh38]
ChrX:48762718 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.1014C>T (p.Tyr338=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV002094405] ChrX:48904895 [GRCh38]
ChrX:48762172 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.426+17G>A single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV002112357] ChrX:48906375 [GRCh38]
ChrX:48763652 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.112A>T (p.Ile38Leu) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV002244152] ChrX:48909976 [GRCh38]
ChrX:48767253 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.275-17C>T single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV002184607] ChrX:48906560 [GRCh38]
ChrX:48763837 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.280G>A (p.Val94Met) single nucleotide variant SLC35A2-related condition [RCV003933711]|See cases [RCV002253176] ChrX:48906538 [GRCh38]
ChrX:48763815 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.723C>T (p.Phe241=) single nucleotide variant Inborn genetic diseases [RCV002372924]|SLC35A2-congenital disorder of glycosylation [RCV002119728] ChrX:48905186 [GRCh38]
ChrX:48762463 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.610G>A (p.Ala204Thr) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV002099643]|SLC35A2-related condition [RCV003403670] ChrX:48905299 [GRCh38]
ChrX:48762576 [GRCh37]
ChrX:Xp11.23		 benign|uncertain significance
NM_005660.3(SLC35A2):c.343C>T (p.Leu115Phe) single nucleotide variant not provided [RCV003109882] ChrX:48906475 [GRCh38]
ChrX:48763752 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NC_000023.10:g.(?_48368209)_(51241672_?)dup duplication X-linked severe congenital neutropenia [RCV003111119] ChrX:48368209..51241672 [GRCh37]
ChrX:Xp11.23-11.22		 uncertain significance
NC_000023.10:g.(?_46466387)_(50659607_?)del deletion Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV003116676] ChrX:46466387..50659607 [GRCh37]
ChrX:Xp11.23-11.22		 pathogenic
NC_000023.10:g.(?_48368209)_(51241672_?)del deletion not provided [RCV003116321] ChrX:48368209..51241672 [GRCh37]
ChrX:Xp11.23-11.22		 pathogenic
NM_005660.3(SLC35A2):c.1163+54del deletion not specified [RCV003123452] ChrX:48904692 [GRCh38]
ChrX:48761969 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.1128C>T (p.His376=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003121040] ChrX:48904781 [GRCh38]
ChrX:48762058 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.795dup (p.Gly266fs) duplication SLC35A2-congenital disorder of glycosylation [RCV003148558] ChrX:48905113..48905114 [GRCh38]
ChrX:48762390..48762391 [GRCh37]
ChrX:Xp11.23		 likely pathogenic
NM_005660.2(SLC35A2):c.-222G>C single nucleotide variant not provided [RCV002276223] ChrX:48911858 [GRCh38]
ChrX:48769135 [GRCh37]
ChrX:Xp11.23		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 copy number gain Klinefelter syndrome [RCV002282732] ChrX:61545..155226048 [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
NM_005660.3(SLC35A2):c.484C>A (p.Arg162Ser) single nucleotide variant not provided [RCV002265261] ChrX:48905425 [GRCh38]
ChrX:48762702 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.56C>T (p.Ser19Phe) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003095988]|not provided [RCV002265270] ChrX:48911581 [GRCh38]
ChrX:48768858 [GRCh37]
ChrX:Xp11.23		 uncertain significance
Single allele complex Turner syndrome [RCV002280670] ChrX:590376..56315041 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
NM_005660.3(SLC35A2):c.26C>T (p.Ser9Phe) single nucleotide variant Inborn genetic diseases [RCV002437386] ChrX:48911611 [GRCh38]
ChrX:48768888 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.308A>T (p.Glu103Val) single nucleotide variant Congenital disorder of glycosylation [RCV003152647] ChrX:48906510 [GRCh38]
ChrX:48763787 [GRCh37]
ChrX:Xp11.23		 likely pathogenic
GRCh37/hg19 Xp11.4-11.22(chrX:39525562-52832596)x3 copy number gain not provided [RCV002474503] ChrX:39525562..52832596 [GRCh37]
ChrX:Xp11.4-11.22		 pathogenic
NM_005660.3(SLC35A2):c.940C>T (p.Arg314Cys) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV002685996] ChrX:48904969 [GRCh38]
ChrX:48762246 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.274+8C>T single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003017062] ChrX:48909806 [GRCh38]
ChrX:48767083 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.595C>G (p.Pro199Ala) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003074458] ChrX:48905314 [GRCh38]
ChrX:48762591 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.91+9G>C single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003075683] ChrX:48911537 [GRCh38]
ChrX:48768814 [GRCh37]
ChrX:Xp11.23		 benign
NM_005660.3(SLC35A2):c.520C>T (p.Leu174Phe) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003033883] ChrX:48905389 [GRCh38]
ChrX:48762666 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.1118T>C (p.Leu373Pro) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003021429] ChrX:48904791 [GRCh38]
ChrX:48762068 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.91+16C>G single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV002871223] ChrX:48911530 [GRCh38]
ChrX:48768807 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.66A>C (p.Ala22=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV002593439] ChrX:48911571 [GRCh38]
ChrX:48768848 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.427-14C>T single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV002846784] ChrX:48905496 [GRCh38]
ChrX:48762773 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.842G>T (p.Gly281Val) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV002909308] ChrX:48905067 [GRCh38]
ChrX:48762344 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.645C>T (p.Phe215=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV002923662] ChrX:48905264 [GRCh38]
ChrX:48762541 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.66A>G (p.Ala22=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV002886359] ChrX:48911571 [GRCh38]
ChrX:48768848 [GRCh37]
ChrX:Xp11.23		 benign
NM_005660.3(SLC35A2):c.616G>T (p.Val206Phe) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV002866926] ChrX:48905293 [GRCh38]
ChrX:48762570 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.938T>C (p.Ile313Thr) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003008363] ChrX:48904971 [GRCh38]
ChrX:48762248 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.1068C>T (p.Ser356=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV002890657] ChrX:48904841 [GRCh38]
ChrX:48762118 [GRCh37]
ChrX:Xp11.23		 benign
NM_005660.3(SLC35A2):c.962A>G (p.Asp321Gly) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV002594837] ChrX:48904947 [GRCh38]
ChrX:48762224 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.288C>G (p.His96Gln) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV002928788] ChrX:48906530 [GRCh38]
ChrX:48763807 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.168C>T (p.Tyr56=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV002985546] ChrX:48909920 [GRCh38]
ChrX:48767197 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.38C>T (p.Pro13Leu) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003031295] ChrX:48911599 [GRCh38]
ChrX:48768876 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.439C>T (p.Leu147=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV002922107]|not provided [RCV003435836] ChrX:48905470 [GRCh38]
ChrX:48762747 [GRCh37]
ChrX:Xp11.23		 benign|likely benign
NM_005660.3(SLC35A2):c.757G>A (p.Ala253Thr) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV002833534] ChrX:48905152 [GRCh38]
ChrX:48762429 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.426+16A>G single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV002833557] ChrX:48906376 [GRCh38]
ChrX:48763653 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.274+17G>C single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV002629194] ChrX:48909797 [GRCh38]
ChrX:48767074 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.1042A>G (p.Ile348Val) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV002597414]|not provided [RCV003439028] ChrX:48904867 [GRCh38]
ChrX:48762144 [GRCh37]
ChrX:Xp11.23		 benign|likely benign
NM_005660.3(SLC35A2):c.327T>C (p.Tyr109=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV002938091] ChrX:48906491 [GRCh38]
ChrX:48763768 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.571G>A (p.Gly191Ser) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003046068] ChrX:48905338 [GRCh38]
ChrX:48762615 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.538G>A (p.Ala180Thr) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV002579144] ChrX:48905371 [GRCh38]
ChrX:48762648 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.775G>A (p.Ala259Thr) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003060167] ChrX:48905134 [GRCh38]
ChrX:48762411 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.669C>T (p.Ile223=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV002937977] ChrX:48905240 [GRCh38]
ChrX:48762517 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.30C>T (p.Thr10=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003091477] ChrX:48911607 [GRCh38]
ChrX:48768884 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.1021C>T (p.Pro341Ser) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003031041] ChrX:48904888 [GRCh38]
ChrX:48762165 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.1030G>T (p.Ala344Ser) single nucleotide variant Inborn genetic diseases [RCV002962982]|SLC35A2-congenital disorder of glycosylation [RCV002962983] ChrX:48904879 [GRCh38]
ChrX:48762156 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.91+14C>A single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003071721] ChrX:48911532 [GRCh38]
ChrX:48768809 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.782G>A (p.Arg261His) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV002611180] ChrX:48905127 [GRCh38]
ChrX:48762404 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.367A>G (p.Thr123Ala) single nucleotide variant not provided [RCV003149528] ChrX:48906451 [GRCh38]
ChrX:48763728 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NC_000023.10:g.(?_46466387)_(51241672_?)del deletion not provided [RCV003154905] ChrX:46466387..51241672 [GRCh37]
ChrX:Xp11.23-11.22		 pathogenic
NM_001032382.2(PQBP1):c.731C>G (p.Pro244Arg) single nucleotide variant not provided [RCV003149483] ChrX:48903017 [GRCh38]
ChrX:48760294 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.832C>T (p.Gln278Ter) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003321453] ChrX:48905077 [GRCh38]
ChrX:48762354 [GRCh37]
ChrX:Xp11.23		 pathogenic
NM_001032382.2(PQBP1):c.642-5G>A single nucleotide variant not provided [RCV001091018] ChrX:48902923 [GRCh38]
ChrX:48760200 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.1112C>A (p.Pro371Gln) single nucleotide variant not provided [RCV003319125] ChrX:48904797 [GRCh38]
ChrX:48762074 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.1069G>C (p.Gly357Arg) single nucleotide variant Autism [RCV003328510]|SLC35A2-congenital disorder of glycosylation [RCV003741345] ChrX:48904840 [GRCh38]
ChrX:48762117 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_001282648.2(SLC35A2):c.19+5G>T single nucleotide variant SLC35A2-related condition [RCV003397349] ChrX:48911854 [GRCh38]
ChrX:48769131 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.1163+142C>A single nucleotide variant not provided [RCV003332903] ChrX:48904604 [GRCh38]
ChrX:48761881 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.2(SLC35A2):c.-15C>A single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003741147] ChrX:48911651 [GRCh38]
ChrX:48768928 [GRCh37]
ChrX:Xp11.23		 uncertain significance
GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1 copy number loss not provided [RCV003483920] ChrX:36355238..54106257 [GRCh37]
ChrX:Xp21.1-11.22		 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 Xp11.23-11.22(chrX:48224455-52832596)x3 copy number gain not provided [RCV003485288] ChrX:48224455..52832596 [GRCh37]
ChrX:Xp11.23-11.22		 pathogenic
NM_005660.3(SLC35A2):c.1163+105G>A single nucleotide variant not provided [RCV003438259] ChrX:48904641 [GRCh38]
ChrX:48761918 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_001032382.2(PQBP1):c.668A>G (p.Lys223Arg) single nucleotide variant not provided [RCV003442588] ChrX:48902954 [GRCh38]
ChrX:48760231 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.652G>A (p.Val218Ile) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003581938]|not provided [RCV003438260] ChrX:48905257 [GRCh38]
ChrX:48762534 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.755G>A (p.Trp252Ter) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003389937] ChrX:48905154 [GRCh38]
ChrX:48762431 [GRCh37]
ChrX:Xp11.23		 not provided
NM_005660.3(SLC35A2):c.*32G>A single nucleotide variant not provided [RCV003438258] ChrX:48903406 [GRCh38]
ChrX:48760683 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.288C>T (p.His96=) single nucleotide variant not provided [RCV003438261] ChrX:48906530 [GRCh38]
ChrX:48763807 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.843C>T (p.Gly281=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003848888] ChrX:48905066 [GRCh38]
ChrX:48762343 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.541A>G (p.Ile181Val) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003882756] ChrX:48905368 [GRCh38]
ChrX:48762645 [GRCh37]
ChrX:Xp11.23		 pathogenic
NM_005660.3(SLC35A2):c.200C>T (p.Ala67Val) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003878510] ChrX:48909888 [GRCh38]
ChrX:48767165 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_001042498.3:c.923C>T single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003882755]   pathogenic
NM_005660.3(SLC35A2):c.484C>T (p.Arg162Cys) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003742567] ChrX:48905425 [GRCh38]
ChrX:48762702 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.8C>A (p.Ala3Glu) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003582890] ChrX:48911629 [GRCh38]
ChrX:48768906 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.458C>T (p.Ala153Val) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003741964] ChrX:48905451 [GRCh38]
ChrX:48762728 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.68dup (p.Leu23fs) duplication SLC35A2-congenital disorder of glycosylation [RCV003582065] ChrX:48911568..48911569 [GRCh38]
ChrX:48768845..48768846 [GRCh37]
ChrX:Xp11.23		 pathogenic
NM_005660.3(SLC35A2):c.11_16del (p.Val4_Gly5del) deletion SLC35A2-congenital disorder of glycosylation [RCV003740807] ChrX:48911621..48911626 [GRCh38]
ChrX:48768898..48768903 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.92-12C>A single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003742164] ChrX:48910008 [GRCh38]
ChrX:48767285 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.275-19C>G single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003740899] ChrX:48906562 [GRCh38]
ChrX:48763839 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.660T>C (p.Phe220=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003582280] ChrX:48905249 [GRCh38]
ChrX:48762526 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.73C>A (p.Pro25Thr) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003740897] ChrX:48911564 [GRCh38]
ChrX:48768841 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.150C>A (p.Leu50=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003741093] ChrX:48909938 [GRCh38]
ChrX:48767215 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.92-20G>A single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003742367] ChrX:48910016 [GRCh38]
ChrX:48767293 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.321G>A (p.Val107=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003742390] ChrX:48906497 [GRCh38]
ChrX:48763774 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.179T>C (p.Leu60Ser) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003582685] ChrX:48909909 [GRCh38]
ChrX:48767186 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.111C>T (p.Tyr37=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003742505] ChrX:48909977 [GRCh38]
ChrX:48767254 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.21T>G (p.Gly7=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003582325] ChrX:48911616 [GRCh38]
ChrX:48768893 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.568G>A (p.Gly190Arg) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003742460] ChrX:48905341 [GRCh38]
ChrX:48762618 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.825G>C (p.Val275=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003582547] ChrX:48905084 [GRCh38]
ChrX:48762361 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.1078G>C (p.Val360Leu) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003581983] ChrX:48904831 [GRCh38]
ChrX:48762108 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.78G>T (p.Gly26=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003582015] ChrX:48911559 [GRCh38]
ChrX:48768836 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.1110A>T (p.Pro370=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003741998] ChrX:48904799 [GRCh38]
ChrX:48762076 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.91+18A>G single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003740750] ChrX:48911528 [GRCh38]
ChrX:48768805 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.91+15_91+16insT insertion SLC35A2-congenital disorder of glycosylation [RCV003740751] ChrX:48911530..48911531 [GRCh38]
ChrX:48768807..48768808 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.99G>A (p.Arg33=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003581415] ChrX:48909989 [GRCh38]
ChrX:48767266 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.426+12G>A single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003740834] ChrX:48906380 [GRCh38]
ChrX:48763657 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.923C>T (p.Ser308Phe) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003740887] ChrX:48904986 [GRCh38]
ChrX:48762263 [GRCh37]
ChrX:Xp11.23		 pathogenic
NM_005660.3(SLC35A2):c.167_193del (p.Tyr56_Arg64del) deletion SLC35A2-congenital disorder of glycosylation [RCV003582886] ChrX:48909895..48909921 [GRCh38]
ChrX:48767172..48767198 [GRCh37]
ChrX:Xp11.23		 likely pathogenic
NM_005660.3(SLC35A2):c.702C>T (p.Arg234=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003742169]|not provided [RCV003885362] ChrX:48905207 [GRCh38]
ChrX:48762484 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.759T>A (p.Ala253=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003742301] ChrX:48905150 [GRCh38]
ChrX:48762427 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.267G>A (p.Gln89=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003742591] ChrX:48909821 [GRCh38]
ChrX:48767098 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.819C>G (p.Gly273=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003582904] ChrX:48905090 [GRCh38]
ChrX:48762367 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.292G>A (p.Val98Ile) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003740932] ChrX:48906526 [GRCh38]
ChrX:48763803 [GRCh37]
ChrX:Xp11.23		 benign
NM_005660.3(SLC35A2):c.905C>T (p.Ser302Phe) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003741688] ChrX:48905004 [GRCh38]
ChrX:48762281 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.231C>T (p.Leu77=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003741036] ChrX:48909857 [GRCh38]
ChrX:48767134 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.1070G>C (p.Gly357Ala) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003811844] ChrX:48904839 [GRCh38]
ChrX:48762116 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.718C>T (p.Leu240Phe) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003582054] ChrX:48905191 [GRCh38]
ChrX:48762468 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.618C>T (p.Val206=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003582810] ChrX:48905291 [GRCh38]
ChrX:48762568 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.1163+16G>T single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003740907] ChrX:48904730 [GRCh38]
ChrX:48762007 [GRCh37]
ChrX:Xp11.23		 benign
NM_005660.3(SLC35A2):c.191G>A (p.Arg64His) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003741085] ChrX:48909897 [GRCh38]
ChrX:48767174 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.427-13G>A single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003581156] ChrX:48905495 [GRCh38]
ChrX:48762772 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.1090C>T (p.Pro364Ser) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003741426] ChrX:48904819 [GRCh38]
ChrX:48762096 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.945C>T (p.Leu315=) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003740765] ChrX:48904964 [GRCh38]
ChrX:48762241 [GRCh37]
ChrX:Xp11.23		 likely 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_005660.3(SLC35A2):c.1097G>A (p.Gly366Glu) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003859483] ChrX:48904812 [GRCh38]
ChrX:48762089 [GRCh37]
ChrX:Xp11.23		 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_005660.3(SLC35A2):c.92-290G>A single nucleotide variant SLC35A2-related condition [RCV003911864] ChrX:48910286 [GRCh38]
ChrX:48767563 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_001282648.2(SLC35A2):c.6G>T (p.Lys2Asn) single nucleotide variant SLC35A2-related condition [RCV003921773] ChrX:48911872 [GRCh38]
ChrX:48769149 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.918_929dup (p.Val310_Ala311insLeuSerThrVal) duplication SLC35A2-congenital disorder of glycosylation [RCV003885329] ChrX:48904979..48904980 [GRCh38]
ChrX:48762256..48762257 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.92-233G>A single nucleotide variant SLC35A2-related condition [RCV003924472] ChrX:48910229 [GRCh38]
ChrX:48767506 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_005660.3(SLC35A2):c.998G>A (p.Gly333Asp) single nucleotide variant SLC35A2-congenital disorder of glycosylation [RCV003988704] ChrX:48904911 [GRCh38]
ChrX:48762188 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_005660.3(SLC35A2):c.426+74G>A single nucleotide variant not specified [RCV003988544] ChrX:48906318 [GRCh38]
ChrX:48763595 [GRCh37]
ChrX:Xp11.23		 likely benign
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.

Markers in Region
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


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
  CP068255 (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
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX48,903,183 - 48,911,646 (-)Ensembl
RefSeq Acc Id: ENST00000376512   ⟹   ENSP00000365695
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX48,905,956 - 48,911,677 (-)Ensembl
RefSeq Acc Id: ENST00000376515   ⟹   ENSP00000365698
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX48,904,284 - 48,911,958 (-)Ensembl
RefSeq Acc Id: ENST00000376521   ⟹   ENSP00000365704
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX48,903,184 - 48,911,958 (-)Ensembl
RefSeq Acc Id: ENST00000376529   ⟹   ENSP00000365712
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX48,903,184 - 48,911,646 (-)Ensembl
RefSeq Acc Id: ENST00000413561   ⟹   ENSP00000393233
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX48,903,614 - 48,909,872 (-)Ensembl
RefSeq Acc Id: ENST00000445167   ⟹   ENSP00000402726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX48,903,613 - 48,911,669 (-)Ensembl
RefSeq Acc Id: ENST00000446885   ⟹   ENSP00000415518
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX48,905,166 - 48,911,937 (-)Ensembl
RefSeq Acc Id: ENST00000452555   ⟹   ENSP00000416002
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX48,904,440 - 48,911,646 (-)Ensembl
RefSeq Acc Id: ENST00000616181   ⟹   ENSP00000478617
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX48,904,344 - 48,911,646 (-)Ensembl
RefSeq Acc Id: ENST00000634461   ⟹   ENSP00000489440
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX48,906,135 - 48,911,669 (-)Ensembl
RefSeq Acc Id: ENST00000634665   ⟹   ENSP00000489356
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX48,905,398 - 48,911,646 (-)Ensembl
RefSeq Acc Id: ENST00000635015   ⟹   ENSP00000489089
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX48,905,859 - 48,911,646 (-)Ensembl
RefSeq Acc Id: ENST00000635238   ⟹   ENSP00000489515
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX48,905,296 - 48,911,646 (-)Ensembl
RefSeq Acc Id: ENST00000635285   ⟹   ENSP00000489484
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX48,903,180 - 48,911,651 (-)Ensembl
RefSeq Acc Id: ENST00000635460   ⟹   ENSP00000489339
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX48,903,184 - 48,911,634 (-)Ensembl
RefSeq Acc Id: ENST00000635589   ⟹   ENSP00000489197
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX48,904,312 - 48,911,646 (-)Ensembl
RefSeq Acc Id: ENST00000635628   ⟹   ENSP00000489613
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 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
T2T-CHM13v2.0X48,314,089 - 48,322,122 (-)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
T2T-CHM13v2.0X48,313,659 - 48,322,122 (-)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
T2T-CHM13v2.0X48,313,659 - 48,322,122 (-)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
T2T-CHM13v2.0X48,314,089 - 48,322,434 (-)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
T2T-CHM13v2.0X48,313,659 - 48,322,122 (-)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
T2T-CHM13v2.0X48,313,659 - 48,322,122 (-)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
T2T-CHM13v2.0X48,313,659 - 48,322,122 (-)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
T2T-CHM13v2.0X48,313,659 - 48,322,122 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001027460 (Get FASTA)   NCBI Sequence Viewer  
  NP_001035963 (Get FASTA)   NCBI Sequence Viewer  
  NP_001269576 (Get FASTA)   NCBI Sequence Viewer  
  NP_001269577 (Get FASTA)   NCBI Sequence Viewer  
  NP_001269578 (Get FASTA)   NCBI Sequence Viewer  
  NP_001269579 (Get FASTA)   NCBI Sequence Viewer  
  NP_001269580 (Get FASTA)   NCBI Sequence Viewer  
  NP_005651 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH35747 (Get FASTA)   NCBI Sequence Viewer  
  BAA12673 (Get FASTA)   NCBI Sequence Viewer  
  BAA13545 (Get FASTA)   NCBI Sequence Viewer  
  BAA95614 (Get FASTA)   NCBI Sequence Viewer  
  BAA95615 (Get FASTA)   NCBI Sequence Viewer  
  BAC03509 (Get FASTA)   NCBI Sequence Viewer  
  BAF82973 (Get FASTA)   NCBI Sequence Viewer  
  BAF85505 (Get FASTA)   NCBI Sequence Viewer  
  BAG56922 (Get FASTA)   NCBI Sequence Viewer  
  BAG56926 (Get FASTA)   NCBI Sequence Viewer  
  BAG60694 (Get FASTA)   NCBI Sequence Viewer  
  BAG61639 (Get FASTA)   NCBI Sequence Viewer  
  CAG29283 (Get FASTA)   NCBI Sequence Viewer  
  EAW50731 (Get FASTA)   NCBI Sequence Viewer  
  EAW50732 (Get FASTA)   NCBI Sequence Viewer  
  EAW50733 (Get FASTA)   NCBI Sequence Viewer  
  EAW50734 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000247138
  ENSP00000247138.5
  ENSP00000365695.1
  ENSP00000365698
  ENSP00000365698.3
  ENSP00000365704
  ENSP00000365704.1
  ENSP00000365712
  ENSP00000365712.3
  ENSP00000393233.3
  ENSP00000402726
  ENSP00000402726.2
  ENSP00000415518.1
  ENSP00000416002
  ENSP00000416002.2
  ENSP00000478617
  ENSP00000478617.1
  ENSP00000489089.1
  ENSP00000489197
  ENSP00000489197.1
  ENSP00000489339.1
  ENSP00000489356.1
  ENSP00000489440.1
  ENSP00000489484.1
  ENSP00000489515.1
  ENSP00000489613.1
  ENSP00000518018.1
  ENSP00000518019.1
  ENSP00000518023.1
  ENSP00000518024.1
  ENSP00000518027.1
  ENSP00000518029.1
GenBank Protein P78381 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_005651   ⟸   NM_005660
- Peptide Label: isoform a
- UniProtKB: Q8IV21 (UniProtKB/Swiss-Prot),   E7EW45 (UniProtKB/Swiss-Prot),   B4DPT2 (UniProtKB/Swiss-Prot),   B4DE11 (UniProtKB/Swiss-Prot),   A8K9V1 (UniProtKB/Swiss-Prot),   A8K2L9 (UniProtKB/Swiss-Prot),   Q92553 (UniProtKB/Swiss-Prot),   P78381 (UniProtKB/Swiss-Prot),   Q6ICV6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001035963   ⟸   NM_001042498
- Peptide Label: isoform c
- UniProtKB: Q6ICV6 (UniProtKB/TrEMBL)
- 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: A6NFI1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269577   ⟸   NM_001282648
- Peptide Label: isoform e
- UniProtKB: A6NKM8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269578   ⟸   NM_001282649
- Peptide Label: isoform f
- UniProtKB: Q6ICV6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269580   ⟸   NM_001282651
- Peptide Label: isoform h
- UniProtKB: Q6ICV6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269579   ⟸   NM_001282650
- Peptide Label: isoform g
- UniProtKB: B4DE15 (UniProtKB/TrEMBL),   Q6ICV6 (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

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P78381-F1-model_v2 AlphaFold P78381 1-396 view protein structure

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

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
  ENSG00000292209 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000247138 ENTREZGENE
  ENST00000247138.11 UniProtKB/Swiss-Prot
  ENST00000376512.2 UniProtKB/TrEMBL
  ENST00000376515 ENTREZGENE
  ENST00000376515.8 UniProtKB/TrEMBL
  ENST00000376521 ENTREZGENE
  ENST00000376521.6 UniProtKB/Swiss-Prot
  ENST00000376529 ENTREZGENE
  ENST00000376529.8 UniProtKB/TrEMBL
  ENST00000413561.7 UniProtKB/TrEMBL
  ENST00000445167 ENTREZGENE
  ENST00000445167.7 UniProtKB/Swiss-Prot
  ENST00000446885.1 UniProtKB/TrEMBL
  ENST00000452555 ENTREZGENE
  ENST00000452555.7 UniProtKB/Swiss-Prot
  ENST00000616181 ENTREZGENE
  ENST00000616181.5 UniProtKB/TrEMBL
  ENST00000634461.1 UniProtKB/TrEMBL
  ENST00000634665.1 UniProtKB/TrEMBL
  ENST00000635015.1 UniProtKB/TrEMBL
  ENST00000635238.1 UniProtKB/TrEMBL
  ENST00000635285.1 UniProtKB/Swiss-Prot
  ENST00000635460.1 UniProtKB/TrEMBL
  ENST00000635589 ENTREZGENE
  ENST00000635589.1 UniProtKB/Swiss-Prot
  ENST00000635628.1 UniProtKB/TrEMBL
  ENST00000710051.1 UniProtKB/Swiss-Prot
  ENST00000710052.1 UniProtKB/Swiss-Prot
  ENST00000710056.1 UniProtKB/Swiss-Prot
  ENST00000710057.1 UniProtKB/Swiss-Prot
  ENST00000710060.1 UniProtKB/Swiss-Prot
  ENST00000710062.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.3730.20 UniProtKB/TrEMBL
GTEx ENSG00000102100 GTEx
  ENSG00000292209 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 314375 OMIM
PANTHER PTHR10231 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UDP-GALACTOSE TRANSLOCATOR 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
Superfamily-SCOP Multidrug resistance efflux transporter EmrE 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
  A8K2L9 ENTREZGENE
  A8K9V1 ENTREZGENE
  B4DE11 ENTREZGENE
  B4DE15 ENTREZGENE, UniProtKB/TrEMBL
  B4DPT2 ENTREZGENE
  B4DSH7_HUMAN UniProtKB/TrEMBL
  C9JCV5_HUMAN UniProtKB/TrEMBL
  E7EW45 ENTREZGENE
  P78381 ENTREZGENE
  Q6ICV6 ENTREZGENE, UniProtKB/TrEMBL
  Q8IV21 ENTREZGENE
  Q92553 ENTREZGENE
  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