UBQLN2 (ubiquilin 2) - Rat Genome Database

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Gene: UBQLN2 (ubiquilin 2) Homo sapiens
Analyze
Symbol: UBQLN2
Name: ubiquilin 2
RGD ID: 1350173
HGNC Page HGNC:12509
Description: Enables identical protein binding activity and molecular condensate scaffold activity. Involved in several processes, including ERAD pathway; negative regulation of receptor-mediated endocytosis; and positive regulation of ERAD pathway. Located in cytosol and plasma membrane. Implicated in amyotrophic lateral sclerosis and amyotrophic lateral sclerosis type 15.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ALS15; CHAP1; CHAP1/DSK2; Dsk2; DSK2 homolog; FLJ10167; FLJ56541; hPLIC-2; HRIHFB2157; LIC-2; N4BP4; Nedd4 binding protein 4; PLIC-2; PLIC2; protein linking IAP with cytoskeleton 2; RIHFB2157; ubiquilin-2; ubiquitin-like product Chap1/Dsk2
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
GRCh38X56,563,627 - 56,567,868 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX56,563,627 - 56,567,868 (+)Ensemblhg38GRCh38
GRCh37X56,590,060 - 56,594,301 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X56,606,797 - 56,610,102 (+)NCBIBuild 36Build 36hg18NCBI36
Build 34X56,473,092 - 56,476,398NCBI
CeleraX60,422,310 - 60,425,727 (+)NCBICelera
Cytogenetic MapXp11.21NCBI
HuRefX53,642,196 - 53,645,647 (+)NCBIHuRef
CHM1_1X56,580,226 - 56,583,643 (+)NCBICHM1_1
T2T-CHM13v2.0X55,856,941 - 55,861,182 (+)NCBIT2T-CHM13v2.0
JBrowse:




Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
autophagosome  (IEA)
cytoplasm  (IDA,IEA)
cytoplasmic vesicle  (IEA)
cytosol  (IBA,IDA,TAS)
membrane  (IEA)
nucleus  (IEA)
plasma membrane  (IDA)

Molecular Function

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

Human Phenotype
Abnormality on pulmonary function testing  (IAGP)
Adult onset  (IAGP)
Amyotrophic lateral sclerosis  (IAGP)
Anxiety  (IAGP)
Athetosis  (IAGP)
Atypical behavior  (IAGP)
Autism  (IAGP)
Axonal loss  (IAGP)
Babinski sign  (IAGP)
Cachexia  (IAGP)
Cognitive impairment  (IAGP)
Depression  (IAGP)
Distal amyotrophy  (IAGP)
Drooling  (IAGP)
Dysarthria  (IAGP)
Dysphagia  (IAGP)
Dysphonia  (IAGP)
Dyspnea  (IAGP)
Dystonia  (IAGP)
Emotional lability  (IAGP)
Fasciculations  (IAGP)
Fatigable weakness of bulbar muscles  (IAGP)
Fatigable weakness of respiratory muscles  (IAGP)
Fatigable weakness of swallowing muscles  (IAGP)
Fatigue  (IAGP)
Foot dorsiflexor weakness  (IAGP)
Frontotemporal dementia  (IAGP)
Generalized muscle weakness  (IAGP)
Gliosis  (IAGP)
Hoffmann sign  (IAGP)
Hyperreflexia  (IAGP)
Jaw hyperreflexia  (IAGP)
Juvenile onset  (IAGP)
Language impairment  (IAGP)
Laryngospasm  (IAGP)
Late onset  (IAGP)
Lower limb muscle weakness  (IAGP)
Middle age onset  (IAGP)
Motor neuron atrophy  (IAGP)
Muscle spasm  (IAGP)
Neurodegeneration  (IAGP)
Orthopnea  (IAGP)
Pain  (IAGP)
Paralysis  (IAGP)
Progressive  (IAGP)
Progressive distal muscular atrophy  (IAGP)
Respiratory failure  (IAGP)
Skeletal muscle atrophy  (IAGP)
Sleep abnormality  (IAGP)
Spastic paraparesis  (IAGP)
Spasticity  (IAGP)
Steppage gait  (IAGP)
Tongue atrophy  (IAGP)
Tongue fasciculations  (IAGP)
Upper limb muscle weakness  (IAGP)
Weight loss  (IAGP)
X-linked dominant inheritance  (IAGP)
Xerostomia  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. Deng HX, etal., Nature. 2011 Aug 21. doi: 10.1038/nature10353.
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:9853615   PMID:10675567   PMID:10894951   PMID:10983987   PMID:11717310   PMID:11827521   PMID:12200120   PMID:12477932   PMID:12972570   PMID:14702039   PMID:15231748   PMID:15772651  
PMID:15975090   PMID:16713569   PMID:16813565   PMID:17098253   PMID:17558393   PMID:18029348   PMID:18199683   PMID:18307982   PMID:18497817   PMID:18535780   PMID:18976975   PMID:19148225  
PMID:19322201   PMID:19815544   PMID:20059542   PMID:20301623   PMID:20529957   PMID:20804422   PMID:21078624   PMID:21378313   PMID:21873635   PMID:21924351   PMID:21988832   PMID:22119785  
PMID:22169395   PMID:22426854   PMID:22560112   PMID:22676852   PMID:22717235   PMID:22729385   PMID:22863883   PMID:22892309   PMID:22939629   PMID:23138764   PMID:23284306   PMID:23312802  
PMID:23459205   PMID:23541532   PMID:23582661   PMID:23774650   PMID:23940030   PMID:23944734   PMID:23973441   PMID:24085347   PMID:24086754   PMID:24215460   PMID:24684794   PMID:24771548  
PMID:24811749   PMID:25179229   PMID:25246588   PMID:25398946   PMID:25616961   PMID:25666615   PMID:25672654   PMID:25921289   PMID:25959826   PMID:26075709   PMID:26141599   PMID:26303000  
PMID:26344197   PMID:26514267   PMID:26944018   PMID:27114451   PMID:27166223   PMID:27168037   PMID:27345149   PMID:27396824   PMID:27456931   PMID:27477512   PMID:27480424   PMID:28125704  
PMID:28286874   PMID:28380382   PMID:28443643   PMID:28514442   PMID:28716533   PMID:28846114   PMID:29161404   PMID:29247619   PMID:29358706   PMID:29401586   PMID:29426014   PMID:29526694  
PMID:29540532   PMID:29666234   PMID:30348461   PMID:30442662   PMID:30664872   PMID:30884312   PMID:30982635   PMID:31073040   PMID:31300519   PMID:31699778   PMID:31904842   PMID:32293796  
PMID:32296183   PMID:32413959   PMID:32423001   PMID:32513711   PMID:32723828   PMID:32814053   PMID:32877691   PMID:33277362   PMID:33306668   PMID:33545068   PMID:33618749   PMID:33729478  
PMID:33789365   PMID:33891006   PMID:33961781   PMID:33963840   PMID:33991504   PMID:34011540   PMID:34029402   PMID:34129687   PMID:34349018   PMID:34356632   PMID:34709727   PMID:34750982  
PMID:35044719   PMID:35063084   PMID:35063704   PMID:35247097   PMID:35271311   PMID:35530310   PMID:35777956   PMID:35831314   PMID:35914814   PMID:36114200   PMID:36168628   PMID:36180527  
PMID:36215168   PMID:36217029   PMID:36232630   PMID:36423739   PMID:36610398   PMID:36644234   PMID:36827983   PMID:36951542   PMID:37257946   PMID:37276246   PMID:37736299   PMID:37824531  
PMID:38115557   PMID:38177924   PMID:38703371   PMID:38803224  


Genomics

Comparative Map Data
UBQLN2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X56,563,627 - 56,567,868 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX56,563,627 - 56,567,868 (+)Ensemblhg38GRCh38
GRCh37X56,590,060 - 56,594,301 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X56,606,797 - 56,610,102 (+)NCBIBuild 36Build 36hg18NCBI36
Build 34X56,473,092 - 56,476,398NCBI
CeleraX60,422,310 - 60,425,727 (+)NCBICelera
Cytogenetic MapXp11.21NCBI
HuRefX53,642,196 - 53,645,647 (+)NCBIHuRef
CHM1_1X56,580,226 - 56,583,643 (+)NCBICHM1_1
T2T-CHM13v2.0X55,856,941 - 55,861,182 (+)NCBIT2T-CHM13v2.0
Ubqln2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X152,281,228 - 152,284,558 (+)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX152,281,223 - 152,284,566 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm38X153,498,232 - 153,501,562 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX153,498,227 - 153,501,570 (+)Ensemblmm10GRCm38
MGSCv37X149,932,775 - 149,936,105 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv36X148,838,948 - 148,842,278 (+)NCBIMGSCv36mm8
CeleraX135,753,727 - 135,757,059 (-)NCBICelera
Cytogenetic MapXF3NCBI
cM MapX68.46NCBI
Ubqln2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X21,228,809 - 21,232,228 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 EnsemblX21,229,197 - 21,232,268 (-)EnsemblGRCr8
mRatBN7.2X17,853,086 - 17,856,505 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX17,853,114 - 17,856,505 (-)EnsemblmRatBN7.2
UTH_Rnor_SHR_UtxX15,251,663 - 15,255,083 (-)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X24,869,844 - 24,873,264 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X18,312,169 - 18,315,589 (-)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X18,723,313 - 18,726,732 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX18,723,341 - 18,726,732 (-)Ensemblrn6Rnor6.0
Rnor_5.0X19,487,954 - 19,491,373 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4X37,992,907 - 37,996,327 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
CeleraX18,131,544 - 18,134,964 (-)NCBICelera
Cytogenetic MapXq12NCBI
Ubqln2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554753,260,503 - 3,262,380 (+)Ensembl
ChiLan1.0NW_0049554753,260,209 - 3,263,586 (+)NCBIChiLan1.0ChiLan1.0
UBQLN2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X57,999,446 - 58,003,742 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X58,003,059 - 58,008,444 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X48,829,844 - 48,835,040 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X56,981,696 - 56,985,979 (+)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX56,981,985 - 56,983,859 (+)EnsemblpanPan2panpan1.1
UBQLN2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X47,860,923 - 47,864,282 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX39,057,141 - 39,060,488 (+)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.0X48,117,445 - 48,120,792 (+)NCBIROS_Cfam_1.0ROS_Cfam_1.0
UMICH_Zoey_3.1X47,357,992 - 47,361,339 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X48,101,497 - 48,104,844 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X48,016,846 - 48,020,193 (+)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Ubqln2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X40,500,402 - 40,503,770 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936819532,037 - 533,920 (-)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_004936819530,833 - 534,185 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
UBQLN2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX48,948,389 - 48,950,263 (+)EnsemblsusScr11Sscrofa11.1
Sscrofa11.1X48,948,062 - 48,951,392 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
UBQLN2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X52,486,154 - 52,489,531 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX52,486,454 - 52,488,328 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_0236660866,589,262 - 6,593,708 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ubqln2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046249101,548,249 - 1,550,126 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_0046249101,547,942 - 1,551,323 (+)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in UBQLN2
179 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_013444.4(UBQLN2):c.1474G>C (p.Val492Leu) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003640905]|UBQLN2-related disorder [RCV004752928]|not specified [RCV000516395] ChrX:56565347 [GRCh38]
ChrX:56591780 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1490C>A (p.Pro497His) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV000022842] ChrX:56565363 [GRCh38]
ChrX:56591796 [GRCh37]
ChrX:Xp11.21		 pathogenic
NM_013444.4(UBQLN2):c.1489C>T (p.Pro497Ser) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV000022843] ChrX:56565362 [GRCh38]
ChrX:56591795 [GRCh37]
ChrX:Xp11.21		 pathogenic
NM_013444.4(UBQLN2):c.1516C>A (p.Pro506Thr) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV000022844] ChrX:56565389 [GRCh38]
ChrX:56591822 [GRCh37]
ChrX:Xp11.21		 pathogenic
NM_013444.4(UBQLN2):c.1525C>T (p.Pro509Ser) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV000022845]|UBQLN2-related disorder [RCV004752721] ChrX:56565398 [GRCh38]
ChrX:56591831 [GRCh37]
ChrX:Xp11.21		 pathogenic|uncertain significance
NM_013444.4(UBQLN2):c.1573C>T (p.Pro525Ser) single nucleotide variant Amyotrophic lateral sclerosis [RCV000625776]|Amyotrophic lateral sclerosis type 15 [RCV000022846]|UBQLN2-related disorder [RCV003944836]|not provided [RCV003441723] ChrX:56565446 [GRCh38]
ChrX:56591879 [GRCh37]
ChrX:Xp11.21		 pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|likely pathogenic|conflicting data from submitters
NM_013444.4(UBQLN2):c.1420C>G (p.Pro474Ala) single nucleotide variant not provided [RCV000730263]|not specified [RCV000518129] ChrX:56565293 [GRCh38]
ChrX:56591726 [GRCh37]
ChrX:Xp11.21		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)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-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 Xp11.21-q11.2(chrX:55895084-65038751)x2 copy number gain See cases [RCV000052414] ChrX:55895084..65038751 [GRCh38]
ChrX:55921517..64258631 [GRCh37]
ChrX:55938242..64175356 [NCBI36]
ChrX:Xp11.21-q11.2		 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 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xp11.22-11.21(chrX:51664377-58055036)x3 copy number gain See cases [RCV000052392] ChrX:51664377..58055036 [GRCh38]
ChrX:51407309..58081470 [GRCh37]
ChrX:51424049..58098195 [NCBI36]
ChrX:Xp11.22-11.21		 pathogenic
GRCh38/hg38 Xp11.22-11.1(chrX:52363196-58455952)x2 copy number gain See cases [RCV000052393] ChrX:52363196..58455952 [GRCh38]
ChrX:52175778..58482385 [GRCh37]
ChrX:52123054..58499110 [NCBI36]
ChrX:Xp11.22-11.1		 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 Xp22.33-11.21(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-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 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-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
NM_013444.4(UBQLN2):c.1490C>T (p.Pro497Leu) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV000144928] ChrX:56565363 [GRCh38]
ChrX:56591796 [GRCh37]
ChrX:Xp11.21		 pathogenic|uncertain significance|not provided
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 Xp11.22-q21.31(chrX:53985575-92203108)x1 copy number loss See cases [RCV000135306] ChrX:53985575..92203108 [GRCh38]
ChrX:54012008..91458107 [GRCh37]
ChrX:54028733..91344763 [NCBI36]
ChrX:Xp11.22-q21.31		 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:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-11.21(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 Xp11.22-q11.1(chrX:53750365-63089185)x2 copy number gain See cases [RCV000137412] ChrX:53750365..63089185 [GRCh38]
ChrX:53776863..62203737 [GRCh37]
ChrX:53793588..62225380 [NCBI36]
ChrX:Xp11.22-q11.1		 pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1		 pathogenic|likely benign
GRCh38/hg38 Xp11.21-q11.2(chrX:56127875-63867853)x2 copy number gain See cases [RCV000137371] ChrX:56127875..63867853 [GRCh38]
ChrX:56154308..63087733 [GRCh37]
ChrX:56171033..63004458 [NCBI36]
ChrX:Xp11.21-q11.2		 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-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-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: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)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 Xp11.21(chrX:56041093-57333244)x2 copy number gain See cases [RCV000141695] ChrX:56041093..57333244 [GRCh38]
ChrX:56067526..57359677 [GRCh37]
ChrX:56084251..57376402 [NCBI36]
ChrX:Xp11.21		 uncertain significance
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 Xp11.22-q11.2(chrX:52809123-65305544)x3 copy number gain See cases [RCV000142756] ChrX:52809123..65305544 [GRCh38]
ChrX:52838147..64525424 [GRCh37]
ChrX:52854872..64442149 [NCBI36]
ChrX:Xp11.22-q11.2		 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 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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-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:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
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
NM_013444.4(UBQLN2):c.915G>C (p.Thr305=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV002085733] ChrX:56564788 [GRCh38]
ChrX:56591221 [GRCh37]
ChrX:Xp11.21		 likely benign
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 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.21-q21.1(chrX:55240087-78225374)x1 copy number loss See cases [RCV000511311] ChrX:55240087..78225374 [GRCh37]
ChrX:Xp11.21-q21.1		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)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 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1		 pathogenic
NM_013444.4(UBQLN2):c.1461C>A (p.Thr487=) single nucleotide variant Amyotrophic Lateral Sclerosis, Dominant [RCV000399814]|Amyotrophic lateral sclerosis type 15 [RCV001079580]|not provided [RCV000547371]|not specified [RCV000241665] ChrX:56565334 [GRCh38]
ChrX:56591767 [GRCh37]
ChrX:Xp11.21		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
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_013444.4(UBQLN2):c.*1170dup duplication Amyotrophic Lateral Sclerosis, Dominant [RCV000303430] ChrX:56566917..56566918 [GRCh38]
ChrX:56593350..56593351 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.-163G>T single nucleotide variant Amyotrophic Lateral Sclerosis, Dominant [RCV000294537]|Amyotrophic lateral sclerosis type 15 [RCV001167818]|not provided [RCV004703896] ChrX:56563711 [GRCh38]
ChrX:56590144 [GRCh37]
ChrX:Xp11.21		 benign|likely benign
NM_013444.4(UBQLN2):c.*1258C>T single nucleotide variant Amyotrophic Lateral Sclerosis, Dominant [RCV000358178]|Amyotrophic lateral sclerosis type 15 [RCV001165714]|not provided [RCV004703897] ChrX:56567006 [GRCh38]
ChrX:56593439 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_013444.4(UBQLN2):c.-55CT[5] microsatellite Amyotrophic Lateral Sclerosis, Dominant [RCV000349652] ChrX:56563818..56563819 [GRCh38]
ChrX:56590251..56590252 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1170C>T (p.Pro390=) single nucleotide variant Amyotrophic Lateral Sclerosis, Dominant [RCV000281846]|Amyotrophic lateral sclerosis type 15 [RCV001167824] ChrX:56565043 [GRCh38]
ChrX:56591476 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.3(UBQLN2):c.-277A>C single nucleotide variant Amyotrophic Lateral Sclerosis, Dominant [RCV000325002]|Amyotrophic lateral sclerosis type 15 [RCV001167235] ChrX:56563597 [GRCh38]
ChrX:56590030 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.243A>G (p.Leu81=) single nucleotide variant Amyotrophic Lateral Sclerosis, Dominant [RCV000385557]|Amyotrophic lateral sclerosis type 15 [RCV001167821] ChrX:56564116 [GRCh38]
ChrX:56590549 [GRCh37]
ChrX:Xp11.21		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_013444.3(UBQLN2):c.-271G>C single nucleotide variant Amyotrophic Lateral Sclerosis, Dominant [RCV000388853]|Amyotrophic lateral sclerosis type 15 [RCV001167817] ChrX:56563603 [GRCh38]
ChrX:56590036 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1383G>A (p.Gly461=) single nucleotide variant Amyotrophic Lateral Sclerosis, Dominant [RCV000336836]|Amyotrophic lateral sclerosis type 15 [RCV000649034]|not provided [RCV001580013]|not specified [RCV001288936] ChrX:56565256 [GRCh38]
ChrX:56591689 [GRCh37]
ChrX:Xp11.21		 benign|likely benign
NM_013444.4(UBQLN2):c.*16T>C single nucleotide variant Amyotrophic Lateral Sclerosis, Dominant [RCV000297168]|Amyotrophic lateral sclerosis type 15 [RCV001169694] ChrX:56565764 [GRCh38]
ChrX:56592197 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.*41G>T single nucleotide variant Amyotrophic Lateral Sclerosis, Dominant [RCV000342793]|Amyotrophic lateral sclerosis type 15 [RCV001169695] ChrX:56565789 [GRCh38]
ChrX:56592222 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.*881A>G single nucleotide variant Amyotrophic Lateral Sclerosis, Dominant [RCV000400643]|Amyotrophic lateral sclerosis type 15 [RCV001165711] ChrX:56566629 [GRCh38]
ChrX:56593062 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1318C>A (p.Pro440Thr) single nucleotide variant not provided [RCV000487760]|not specified [RCV004023236] ChrX:56565191 [GRCh38]
ChrX:56591624 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1496G>A (p.Gly499Asp) single nucleotide variant not provided [RCV001760674] ChrX:56565369 [GRCh38]
ChrX:56591802 [GRCh37]
ChrX:Xp11.21		 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
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28		 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 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28		 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-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [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: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:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 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:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 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-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 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-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
NM_013444.4(UBQLN2):c.579C>T (p.Ser193=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV005056463]|UBQLN2-related disorder [RCV004753006]|not provided [RCV000714148] ChrX:56564452 [GRCh38]
ChrX:56590885 [GRCh37]
ChrX:Xp11.21		 benign|likely benign
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-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2		 pathogenic
Single allele duplication Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28		 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:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [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
NM_013444.4(UBQLN2):c.1715C>T (p.Ala572Val) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV002066081]|not specified [RCV004877683] ChrX:56565588 [GRCh38]
ChrX:56592021 [GRCh37]
ChrX:Xp11.21		 benign|uncertain significance
NM_013444.4(UBQLN2):c.264C>T (p.Ile88=) single nucleotide variant not provided [RCV000925752] ChrX:56564137 [GRCh38]
ChrX:56590570 [GRCh37]
ChrX:Xp11.21		 likely benign
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_013444.4(UBQLN2):c.1574C>T (p.Pro525Leu) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV000793463] ChrX:56565447 [GRCh38]
ChrX:56591880 [GRCh37]
ChrX:Xp11.21		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.21(chrX:56457791-57976114)x2 copy number gain not provided [RCV000849391] ChrX:56457791..57976114 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.*905G>A single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV001165712] ChrX:56566653 [GRCh38]
ChrX:56593086 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.*1171T>A single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV001165713] ChrX:56566919 [GRCh38]
ChrX:56593352 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1516C>T (p.Pro506Ser) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV001095427] ChrX:56565389 [GRCh38]
ChrX:56591822 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.-54T>G single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV001167820] ChrX:56563820 [GRCh38]
ChrX:56590253 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1714G>A (p.Ala572Thr) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV001209947] ChrX:56565587 [GRCh38]
ChrX:56592020 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1060G>A (p.Val354Ile) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV001211116] ChrX:56564933 [GRCh38]
ChrX:56591366 [GRCh37]
ChrX:Xp11.21		 uncertain significance
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 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28		 uncertain significance
NM_013444.4(UBQLN2):c.900C>A (p.Ser300=) single nucleotide variant not provided [RCV000910795] ChrX:56564773 [GRCh38]
ChrX:56591206 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_013444.4(UBQLN2):c.378G>A (p.Ala126=) single nucleotide variant not provided [RCV000927086] ChrX:56564251 [GRCh38]
ChrX:56590684 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_013444.4(UBQLN2):c.-159A>G single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV001167819] ChrX:56563715 [GRCh38]
ChrX:56590148 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1274A>G (p.Gln425Arg) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003526032]|not provided [RCV001092792] ChrX:56565147 [GRCh38]
ChrX:56591580 [GRCh37]
ChrX:Xp11.21		 pathogenic|uncertain significance
NM_013444.4(UBQLN2):c.1858G>C (p.Gly620Arg) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV001169693] ChrX:56565731 [GRCh38]
ChrX:56592164 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.938G>A (p.Arg313His) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV001228420] ChrX:56564811 [GRCh38]
ChrX:56591244 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.808C>T (p.Arg270Cys) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV001167822] ChrX:56564681 [GRCh38]
ChrX:56591114 [GRCh37]
ChrX:Xp11.21		 conflicting interpretations of pathogenicity|uncertain significance
NM_013444.4(UBQLN2):c.1031A>G (p.Asn344Ser) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV001167823] ChrX:56564904 [GRCh38]
ChrX:56591337 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.3(UBQLN2):c.-272T>C single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV001167236] ChrX:56563602 [GRCh38]
ChrX:56590035 [GRCh37]
ChrX:Xp11.21		 uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number gain 46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_013444.4(UBQLN2):c.1174A>G (p.Met392Val) single nucleotide variant not provided [RCV001531157] ChrX:56565047 [GRCh38]
ChrX:56591480 [GRCh37]
ChrX:Xp11.21		 likely pathogenic
NM_013444.4(UBQLN2):c.636G>A (p.Gln212=) single nucleotide variant not provided [RCV001579940] ChrX:56564509 [GRCh38]
ChrX:56590942 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_013444.4(UBQLN2):c.1727C>A (p.Pro576Gln) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV001316038] ChrX:56565600 [GRCh38]
ChrX:56592033 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.522G>A (p.Gln174=) single nucleotide variant not provided [RCV001289409] ChrX:56564395 [GRCh38]
ChrX:56590828 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1499C>A (p.Pro500His) single nucleotide variant not provided [RCV001289408] ChrX:56565372 [GRCh38]
ChrX:56591805 [GRCh37]
ChrX:Xp11.21		 uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
NM_013444.4(UBQLN2):c.717G>A (p.Arg239=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV001516388] ChrX:56564590 [GRCh38]
ChrX:56591023 [GRCh37]
ChrX:Xp11.21		 benign
NM_013444.4(UBQLN2):c.1417A>G (p.Ile473Val) single nucleotide variant not provided [RCV001763138] ChrX:56565290 [GRCh38]
ChrX:56591723 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1255A>G (p.Asn419Asp) single nucleotide variant not provided [RCV001773357] ChrX:56565128 [GRCh38]
ChrX:56591561 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1037C>G (p.Ser346Cys) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV002538747]|not provided [RCV001756695] ChrX:56564910 [GRCh38]
ChrX:56591343 [GRCh37]
ChrX:Xp11.21		 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_013444.4(UBQLN2):c.21C>G (p.Ser7Arg) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV002020808] ChrX:56563894 [GRCh38]
ChrX:56590327 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.304A>G (p.Ile102Val) single nucleotide variant Vascular dementia [RCV002051769] ChrX:56564177 [GRCh38]
ChrX:56590610 [GRCh37]
ChrX:Xp11.21		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_013444.4(UBQLN2):c.857A>G (p.Gln286Arg) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV001871478] ChrX:56564730 [GRCh38]
ChrX:56591163 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.847G>A (p.Ala283Thr) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV002000744] ChrX:56564720 [GRCh38]
ChrX:56591153 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1198A>G (p.Ser400Gly) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV001937846] ChrX:56565071 [GRCh38]
ChrX:56591504 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1013C>T (p.Thr338Ile) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV001867618] ChrX:56564886 [GRCh38]
ChrX:56591319 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1474G>T (p.Val492Leu) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV002049008] ChrX:56565347 [GRCh38]
ChrX:56591780 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1279C>G (p.Arg427Gly) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV001878297] ChrX:56565152 [GRCh38]
ChrX:56591585 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1011C>T (p.Ser337=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV002207807] ChrX:56564884 [GRCh38]
ChrX:56591317 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_013444.4(UBQLN2):c.900C>T (p.Ser300=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV002095503] ChrX:56564773 [GRCh38]
ChrX:56591206 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_013444.4(UBQLN2):c.1329A>G (p.Leu443=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV002197019] ChrX:56565202 [GRCh38]
ChrX:56591635 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_013444.4(UBQLN2):c.1455G>A (p.Leu485=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV002100003] ChrX:56565328 [GRCh38]
ChrX:56591761 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_013444.4(UBQLN2):c.1019G>T (p.Ser340Ile) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV002162796]|UBQLN2-related disorder [RCV003403700]|not provided [RCV003883774] ChrX:56564892 [GRCh38]
ChrX:56591325 [GRCh37]
ChrX:Xp11.21		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_013444.4(UBQLN2):c.51T>A (p.Pro17=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV002200883] ChrX:56563924 [GRCh38]
ChrX:56590357 [GRCh37]
ChrX:Xp11.21		 benign
NM_013444.4(UBQLN2):c.1302G>T (p.Leu434=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV002157671]|not provided [RCV005242177] ChrX:56565175 [GRCh38]
ChrX:56591608 [GRCh37]
ChrX:Xp11.21		 benign|likely benign
NM_013444.4(UBQLN2):c.1391C>T (p.Thr464Ile) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003115682] ChrX:56565264 [GRCh38]
ChrX:56591697 [GRCh37]
ChrX:Xp11.21		 uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304) copy number loss Turner syndrome [RCV002280671] ChrX:168546..57841304 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
NM_013444.4(UBQLN2):c.947T>C (p.Leu316Pro) single nucleotide variant not provided [RCV002261659] ChrX:56564820 [GRCh38]
ChrX:56591253 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1003A>T (p.Thr335Ser) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV002471695] ChrX:56564876 [GRCh38]
ChrX:56591309 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1043A>G (p.Asn348Ser) single nucleotide variant not specified [RCV004137005] ChrX:56564916 [GRCh38]
ChrX:56591349 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_013444.4(UBQLN2):c.327G>C (p.Gln109His) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003075025] ChrX:56564200 [GRCh38]
ChrX:56590633 [GRCh37]
ChrX:Xp11.21		 benign
NM_013444.4(UBQLN2):c.401C>T (p.Thr134Ile) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV002756501] ChrX:56564274 [GRCh38]
ChrX:56590707 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.509_510delinsTA (p.Gln170Leu) indel not provided [RCV003152059] ChrX:56564382..56564383 [GRCh38]
ChrX:56590815..56590816 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1053G>A (p.Gly351=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV002800177] ChrX:56564926 [GRCh38]
ChrX:56591359 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_013444.4(UBQLN2):c.648G>T (p.Gln216His) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003080786] ChrX:56564521 [GRCh38]
ChrX:56590954 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.359G>C (p.Gly120Ala) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV002639584]|not specified [RCV004681521] ChrX:56564232 [GRCh38]
ChrX:56590665 [GRCh37]
ChrX:Xp11.21		 benign|uncertain significance
NM_013444.4(UBQLN2):c.845C>T (p.Ala282Val) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV002926960] ChrX:56564718 [GRCh38]
ChrX:56591151 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1624G>T (p.Ala542Ser) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV002571121]|not specified [RCV004064405] ChrX:56565497 [GRCh38]
ChrX:56591930 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1112G>A (p.Ser371Asn) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV002953200] ChrX:56564985 [GRCh38]
ChrX:56591418 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1491CATAGGCCC[1] (p.499GPI[1]) microsatellite Amyotrophic lateral sclerosis type 15 [RCV002875998]|UBQLN2-related disorder [RCV003961145]|not provided [RCV003434513] ChrX:56565361..56565369 [GRCh38]
ChrX:56591794..56591802 [GRCh37]
ChrX:Xp11.21		 benign|likely benign
NM_013444.4(UBQLN2):c.195C>T (p.Phe65=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV002790257]|not provided [RCV003434509] ChrX:56564068 [GRCh38]
ChrX:56590501 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_013444.4(UBQLN2):c.494C>T (p.Ser165Phe) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV002766441] ChrX:56564367 [GRCh38]
ChrX:56590800 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.405T>C (p.Pro135=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV002700704]|UBQLN2-related disorder [RCV003916515]|not provided [RCV004598214] ChrX:56564278 [GRCh38]
ChrX:56590711 [GRCh37]
ChrX:Xp11.21		 benign|likely benign
NM_013444.4(UBQLN2):c.364A>G (p.Asn122Asp) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003084751] ChrX:56564237 [GRCh38]
ChrX:56590670 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.49C>T (p.Pro17Ser) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003088473] ChrX:56563922 [GRCh38]
ChrX:56590355 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1569C>T (p.Ala523=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV002939139] ChrX:56565442 [GRCh38]
ChrX:56591875 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_013444.4(UBQLN2):c.1872G>A (p.Ser624=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003090283] ChrX:56565745 [GRCh38]
ChrX:56592178 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_013444.4(UBQLN2):c.1481C>T (p.Pro494Leu) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003064727] ChrX:56565354 [GRCh38]
ChrX:56591787 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.368C>G (p.Thr123Ser) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV002635822] ChrX:56564241 [GRCh38]
ChrX:56590674 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1407A>T (p.Ala469=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003069038] ChrX:56565280 [GRCh38]
ChrX:56591713 [GRCh37]
ChrX:Xp11.21		 likely benign
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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-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 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp11.22-11.21(chrX:53764152-58014767)x2 copy number gain See cases [RCV000135877] ChrX:53764152..58014767 [GRCh38]
ChrX:53790650..58041201 [GRCh37]
ChrX:53807375..58057926 [NCBI36]
ChrX:Xp11.22-11.21		 pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 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-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-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24		 pathogenic
GRCh38/hg38 Xp11.22-11.1(chrX:51654792-58469500)x1 copy number loss See cases [RCV000142036] ChrX:51654792..58469500 [GRCh38]
ChrX:51397726..58495933 [GRCh37]
ChrX:51414466..58512658 [NCBI36]
ChrX:Xp11.22-11.1		 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: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 Xp11.21-q13.3(chrX:56431359-76557419)x1 copy number loss See cases [RCV000143131] ChrX:56431359..76557419 [GRCh38]
ChrX:56457792..75777827 [GRCh37]
ChrX:56474517..75694231 [NCBI36]
ChrX:Xp11.21-q13.3		 pathogenic
GRCh37/hg19 Xp11.22-q12(chrX:53085607-67176333)x2 copy number gain See cases [RCV000239889] ChrX:53085607..67176333 [GRCh37]
ChrX:Xp11.22-q12		 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 Xp11.22-11.21(chrX:53220822-58066465)x3 copy number gain See cases [RCV000240407] ChrX:53220822..58066465 [GRCh37]
ChrX:Xp11.22-11.21		 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
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 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:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 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 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp11.21-q11.1(chrX:56457791-62348148)x3 copy number gain See cases [RCV000511839] ChrX:56457791..62348148 [GRCh37]
ChrX:Xp11.21-q11.1		 uncertain significance
GRCh37/hg19 Xp11.21(chrX:56488503-57276424) copy number gain Global developmental delay [RCV000626550] ChrX:56488503..57276424 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.968C>T (p.Pro323Leu) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV000649033] ChrX:56564841 [GRCh38]
ChrX:56591274 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.3(UBQLN2):c.1581_1584delinsG (p.Thr528del) indel not provided [RCV000714147] ChrX:56565454..56565457 [GRCh38]
ChrX:56591887..56591890 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1145T>A (p.Leu382Gln) single nucleotide variant not provided [RCV000714146] ChrX:56565018 [GRCh38]
ChrX:56591451 [GRCh37]
ChrX:Xp11.21		 uncertain significance
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
NM_013444.4(UBQLN2):c.1852C>T (p.Leu618=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV001397590] ChrX:56565725 [GRCh38]
ChrX:56592158 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_013444.4(UBQLN2):c.*661A>T single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV001169697] ChrX:56566409 [GRCh38]
ChrX:56592842 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.*655A>C single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV001169696] ChrX:56566403 [GRCh38]
ChrX:56592836 [GRCh37]
ChrX:Xp11.21		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
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
NM_013444.4(UBQLN2):c.1016G>T (p.Gly339Val) single nucleotide variant not provided [RCV002467034] ChrX:56564889 [GRCh38]
ChrX:56591322 [GRCh37]
ChrX:Xp11.21		 uncertain significance
GRCh37/hg19 Xp11.22-q11.2(chrX:53731940-63932866)x3 copy number gain not provided [RCV002472635] ChrX:53731940..63932866 [GRCh37]
ChrX:Xp11.22-q11.2		 likely pathogenic
GRCh37/hg19 Xp11.21(chrX:56457791-56721134)x3 copy number gain not provided [RCV001007305] ChrX:56457791..56721134 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1319C>T (p.Pro440Leu) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV001260915]|not provided [RCV004697043]|not specified [RCV002249676] ChrX:56565192 [GRCh38]
ChrX:56591625 [GRCh37]
ChrX:Xp11.21		 likely pathogenic|uncertain significance
NM_013444.4(UBQLN2):c.1663C>T (p.Pro555Ser) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV004696621] ChrX:56565536 [GRCh38]
ChrX:56591969 [GRCh37]
ChrX:Xp11.21		 likely 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_013444.4(UBQLN2):c.278A>G (p.His93Arg) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003772002]|not provided [RCV001758452] ChrX:56564151 [GRCh38]
ChrX:56590584 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.724G>A (p.Ala242Thr) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV001810079] ChrX:56564597 [GRCh38]
ChrX:56591030 [GRCh37]
ChrX:Xp11.21		 pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 Xp11.21(chrX:56218598-56798106) copy number gain not specified [RCV002053134] ChrX:56218598..56798106 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1595G>A (p.Gly532Asp) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV001906076] ChrX:56565468 [GRCh38]
ChrX:56591901 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.56C>T (p.Ala19Val) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV001944256] ChrX:56563929 [GRCh38]
ChrX:56590362 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.320G>A (p.Arg107Gln) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV002048080] ChrX:56564193 [GRCh38]
ChrX:56590626 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1490C>G (p.Pro497Arg) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV002015654] ChrX:56565363 [GRCh38]
ChrX:56591796 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.82G>C (p.Ala28Pro) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV001919418]|UBQLN2-related disorder [RCV004753430] ChrX:56563955 [GRCh38]
ChrX:56590388 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1486A>G (p.Thr496Ala) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV001975735] ChrX:56565359 [GRCh38]
ChrX:56591792 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1734A>G (p.Pro578=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV002075408] ChrX:56565607 [GRCh38]
ChrX:56592040 [GRCh37]
ChrX:Xp11.21		 benign
NM_013444.4(UBQLN2):c.1029C>A (p.Gly343=) single nucleotide variant not specified [RCV004783243] ChrX:56564902 [GRCh38]
ChrX:56591335 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_013444.4(UBQLN2):c.4G>T (p.Ala2Ser) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003118500] ChrX:56563877 [GRCh38]
ChrX:56590310 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.969G>A (p.Pro323=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003121418] ChrX:56564842 [GRCh38]
ChrX:56591275 [GRCh37]
ChrX:Xp11.21		 likely benign
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) copy number gain Klinefelter syndrome [RCV003236730] ChrX:200855..155240074 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 copy number loss See cases [RCV002286357] ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 copy number gain Klinefelter syndrome [RCV002282732] ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_013444.4(UBQLN2):c.1794A>T (p.Glu598Asp) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV002991590] ChrX:56565667 [GRCh38]
ChrX:56592100 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1422G>A (p.Pro474=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003081551] ChrX:56565295 [GRCh38]
ChrX:56591728 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_013444.4(UBQLN2):c.1698C>T (p.Ala566=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003081552] ChrX:56565571 [GRCh38]
ChrX:56592004 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_013444.4(UBQLN2):c.1707A>T (p.Gly569=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003081553] ChrX:56565580 [GRCh38]
ChrX:56592013 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_013444.4(UBQLN2):c.1719A>G (p.Pro573=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003081554] ChrX:56565592 [GRCh38]
ChrX:56592025 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_013444.4(UBQLN2):c.1173C>T (p.Tyr391=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003055489] ChrX:56565046 [GRCh38]
ChrX:56591479 [GRCh37]
ChrX:Xp11.21		 benign
NM_013444.4(UBQLN2):c.1416G>C (p.Leu472=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003081550] ChrX:56565289 [GRCh38]
ChrX:56591722 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_013444.4(UBQLN2):c.462T>C (p.Leu154=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003054280] ChrX:56564335 [GRCh38]
ChrX:56590768 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_013444.4(UBQLN2):c.186G>A (p.Ser62=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003025751] ChrX:56564059 [GRCh38]
ChrX:56590492 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_013444.4(UBQLN2):c.1601C>T (p.Thr534Met) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV002573768] ChrX:56565474 [GRCh38]
ChrX:56591907 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.431G>A (p.Gly144Glu) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV002600721] ChrX:56564304 [GRCh38]
ChrX:56590737 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1573C>G (p.Pro525Ala) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003071333]|not provided [RCV003886597] ChrX:56565446 [GRCh38]
ChrX:56591879 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1722G>T (p.Gln574His) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003070431] ChrX:56565595 [GRCh38]
ChrX:56592028 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1060G>C (p.Val354Leu) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV002604745]|UBQLN2-related disorder [RCV004753569] ChrX:56564933 [GRCh38]
ChrX:56591366 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1752A>C (p.Gln584His) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV002584182] ChrX:56565625 [GRCh38]
ChrX:56592058 [GRCh37]
ChrX:Xp11.21		 benign
NM_013444.4(UBQLN2):c.464G>A (p.Ser155Asn) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003050615] ChrX:56564337 [GRCh38]
ChrX:56590770 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1040G>A (p.Ser347Asn) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV002608882] ChrX:56564913 [GRCh38]
ChrX:56591346 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1568C>T (p.Ala523Val) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003777307]|not provided [RCV003319099] ChrX:56565441 [GRCh38]
ChrX:56591874 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.286C>A (p.Leu96Met) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003875021] ChrX:56564159 [GRCh38]
ChrX:56590592 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1596C>T (p.Gly532=) single nucleotide variant not provided [RCV003430554] ChrX:56565469 [GRCh38]
ChrX:56591902 [GRCh37]
ChrX:Xp11.21		 likely benign
GRCh37/hg19 Xp11.21(chrX:56246851-56758100)x2 copy number gain not provided [RCV003483961] ChrX:56246851..56758100 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.253G>C (p.Asp85His) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV005100303]|not provided [RCV003480411] ChrX:56564126 [GRCh38]
ChrX:56590559 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.144G>A (p.Val48=) single nucleotide variant not provided [RCV003430553] ChrX:56564017 [GRCh38]
ChrX:56590450 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_013444.4(UBQLN2):c.159G>T (p.Ser53=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003527036] ChrX:56564032 [GRCh38]
ChrX:56590465 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_013444.4(UBQLN2):c.1001C>T (p.Thr334Met) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003527130] ChrX:56564874 [GRCh38]
ChrX:56591307 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_013444.4(UBQLN2):c.1068C>A (p.Ala356=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003525839]|UBQLN2-related disorder [RCV003929228] ChrX:56564941 [GRCh38]
ChrX:56591374 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_013444.4(UBQLN2):c.1584C>T (p.Thr528=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003526626] ChrX:56565457 [GRCh38]
ChrX:56591890 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_013444.4(UBQLN2):c.180G>T (p.Ala60=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003525538] ChrX:56564053 [GRCh38]
ChrX:56590486 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1733C>T (p.Pro578Leu) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003526263] ChrX:56565606 [GRCh38]
ChrX:56592039 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.823A>C (p.Ile275Leu) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003525764] ChrX:56564696 [GRCh38]
ChrX:56591129 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1503A>G (p.Ile501Met) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003833877] ChrX:56565376 [GRCh38]
ChrX:56591809 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.399C>T (p.Ser133=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003836628] ChrX:56564272 [GRCh38]
ChrX:56590705 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_013444.4(UBQLN2):c.1523C>A (p.Thr508Asn) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003836143] ChrX:56565396 [GRCh38]
ChrX:56591829 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1275G>T (p.Gln425His) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003850878] ChrX:56565148 [GRCh38]
ChrX:56591581 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1049C>T (p.Thr350Ile) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003641991] ChrX:56564922 [GRCh38]
ChrX:56591355 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1081G>A (p.Ala361Thr) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003641135]|not specified [RCV004676240] ChrX:56564954 [GRCh38]
ChrX:56591387 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1464T>C (p.Ala488=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003642295] ChrX:56565337 [GRCh38]
ChrX:56591770 [GRCh37]
ChrX:Xp11.21		 benign
NM_013444.4(UBQLN2):c.1779G>T (p.Gly593=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003642328] ChrX:56565652 [GRCh38]
ChrX:56592085 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_013444.4(UBQLN2):c.1579T>C (p.Ser527Pro) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003641737] ChrX:56565452 [GRCh38]
ChrX:56591885 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.165G>A (p.Gln55=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003640819] ChrX:56564038 [GRCh38]
ChrX:56590471 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_013444.4(UBQLN2):c.150G>A (p.Glu50=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003640514] ChrX:56564023 [GRCh38]
ChrX:56590456 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_013444.4(UBQLN2):c.69G>A (p.Ser23=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003640810] ChrX:56563942 [GRCh38]
ChrX:56590375 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.440G>T (p.Ser147Ile) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003641315] ChrX:56564313 [GRCh38]
ChrX:56590746 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.779G>A (p.Ser260Asn) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003641537] ChrX:56564652 [GRCh38]
ChrX:56591085 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.645T>G (p.Ile215Met) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003641655] ChrX:56564518 [GRCh38]
ChrX:56590951 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1437T>G (p.Gly479=) single nucleotide variant UBQLN2-related disorder [RCV003899011] ChrX:56565310 [GRCh38]
ChrX:56591743 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_013444.4(UBQLN2):c.348C>T (p.Ser116=) single nucleotide variant UBQLN2-related disorder [RCV003936828] ChrX:56564221 [GRCh38]
ChrX:56590654 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_013444.4(UBQLN2):c.981G>C (p.Gln327His) single nucleotide variant not specified [RCV004526332] ChrX:56564854 [GRCh38]
ChrX:56591287 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1818A>C (p.Ala606=) single nucleotide variant not specified [RCV004526560] ChrX:56565691 [GRCh38]
ChrX:56592124 [GRCh37]
ChrX:Xp11.21		 likely benign
GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2 copy number gain Klinefelter syndrome [RCV004579655] ChrX:2757837..156030895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
NM_013444.4(UBQLN2):c.1126A>G (p.Ile376Val) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV004595289] ChrX:56564999 [GRCh38]
ChrX:56591432 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.341A>G (p.Gln114Arg) single nucleotide variant not specified [RCV004677863] ChrX:56564214 [GRCh38]
ChrX:56590647 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.-4C>T single nucleotide variant not provided [RCV004598858] ChrX:56563870 [GRCh38]
ChrX:56590303 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.111G>T (p.Val37=) single nucleotide variant UBQLN2-related disorder [RCV004753860] ChrX:56563984 [GRCh38]
ChrX:56590417 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_013444.4(UBQLN2):c.202C>G (p.Gln68Glu) single nucleotide variant UBQLN2-related disorder [RCV004731391] ChrX:56564075 [GRCh38]
ChrX:56590508 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NC_000023.10:g.(?_54610638)_(154689386_?)dup duplication Hereditary factor VIII deficiency disease [RCV004768478] ChrX:54610638..154689386 [GRCh37]
ChrX:Xp11.22-q28		 uncertain significance
NM_013444.4(UBQLN2):c.1366A>G (p.Met456Val) single nucleotide variant UBQLN2-related disorder [RCV004731781] ChrX:56565239 [GRCh38]
ChrX:56591672 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1497_1550del (p.Ile501_Pro518del) deletion UBQLN2-related disorder [RCV004730398] ChrX:56565362..56565415 [GRCh38]
ChrX:56591795..56591848 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.844G>A (p.Ala282Thr) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV005105386]|not provided [RCV005052567] ChrX:56564717 [GRCh38]
ChrX:56591150 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1524C>G (p.Thr508=) single nucleotide variant not provided [RCV005000794] ChrX:56565397 [GRCh38]
ChrX:56591830 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.438G>A (p.Gly146=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV005146451] ChrX:56564311 [GRCh38]
ChrX:56590744 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1219G>T (p.Ala407Ser) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV005174580] ChrX:56565092 [GRCh38]
ChrX:56591525 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1094G>C (p.Ser365Thr) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV005158054] ChrX:56564967 [GRCh38]
ChrX:56591400 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1144C>T (p.Leu382=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV005069792] ChrX:56565017 [GRCh38]
ChrX:56591450 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1640C>T (p.Thr547Met) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV005117053] ChrX:56565513 [GRCh38]
ChrX:56591946 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1533_1550del (p.510IGP[1]) deletion Amyotrophic lateral sclerosis type 15 [RCV005113615] ChrX:56565398..56565415 [GRCh38]
ChrX:56591831..56591848 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1713T>C (p.Asn571=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV005072941] ChrX:56565586 [GRCh38]
ChrX:56592019 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.724G>T (p.Ala242Ser) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV005190649] ChrX:56564597 [GRCh38]
ChrX:56591030 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.171T>G (p.Phe57Leu) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV005166489] ChrX:56564044 [GRCh38]
ChrX:56590477 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1527C>T (p.Pro509=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV005151450] ChrX:56565400 [GRCh38]
ChrX:56591833 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1331C>T (p.Ser444Leu) single nucleotide variant not provided [RCV005241924] ChrX:56565204 [GRCh38]
ChrX:56591637 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.834G>C (p.Pro278=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV005136883] ChrX:56564707 [GRCh38]
ChrX:56591140 [GRCh37]
ChrX:Xp11.21		 benign
NM_013444.4(UBQLN2):c.846C>A (p.Ala282=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV005111669] ChrX:56564719 [GRCh38]
ChrX:56591152 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.904G>C (p.Gly302Arg) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV005169620] ChrX:56564777 [GRCh38]
ChrX:56591210 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.519G>C (p.Gln173His) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV005137794] ChrX:56564392 [GRCh38]
ChrX:56590825 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1602G>A (p.Thr534=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV005159995] ChrX:56565475 [GRCh38]
ChrX:56591908 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_013444.4(UBQLN2):c.1591G>C (p.Gly531Arg) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV005165813] ChrX:56565464 [GRCh38]
ChrX:56591897 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1803G>A (p.Leu601=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV005190301] ChrX:56565676 [GRCh38]
ChrX:56592109 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1039A>G (p.Ser347Gly) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV005187361] ChrX:56564912 [GRCh38]
ChrX:56591345 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.990A>G (p.Ala330=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV005071427] ChrX:56564863 [GRCh38]
ChrX:56591296 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.809G>T (p.Arg270Leu) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV005181506] ChrX:56564682 [GRCh38]
ChrX:56591115 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1728G>A (p.Pro576=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV005129937] ChrX:56565601 [GRCh38]
ChrX:56592034 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_013444.4(UBQLN2):c.1512A>G (p.Ile504Met) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV005414442] ChrX:56565385 [GRCh38]
ChrX:56591818 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1555A>G (p.Thr519Ala) single nucleotide variant not provided [RCV005402441] ChrX:56565428 [GRCh38]
ChrX:56591861 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1616C>G (p.Ser539Cys) single nucleotide variant not provided [RCV005410737] ChrX:56565489 [GRCh38]
ChrX:56591922 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.433T>C (p.Leu145=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV005108632] ChrX:56564306 [GRCh38]
ChrX:56590739 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.138C>T (p.Phe46=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV002587705] ChrX:56564011 [GRCh38]
ChrX:56590444 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_013444.4(UBQLN2):c.1007C>T (p.Thr336Ile) single nucleotide variant not specified [RCV004259296] ChrX:56564880 [GRCh38]
ChrX:56591313 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.267G>T (p.Gln89His) single nucleotide variant not provided [RCV003228542] ChrX:56564140 [GRCh38]
ChrX:56590573 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1619G>C (p.Ser540Thr) single nucleotide variant not provided [RCV003329763] ChrX:56565492 [GRCh38]
ChrX:56591925 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1522A>G (p.Thr508Ala) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003486284] ChrX:56565395 [GRCh38]
ChrX:56591828 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1517C>T (p.Pro506Leu) single nucleotide variant UBQLN2-related disorder [RCV003402318] ChrX:56565390 [GRCh38]
ChrX:56591823 [GRCh37]
ChrX:Xp11.21		 likely pathogenic
NM_013444.4(UBQLN2):c.76G>T (p.Ala26Ser) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003525603]|not provided [RCV005220743] ChrX:56563949 [GRCh38]
ChrX:56590382 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.977C>T (p.Thr326Ile) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003527495] ChrX:56564850 [GRCh38]
ChrX:56591283 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1028G>A (p.Gly343Asp) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003525667] ChrX:56564901 [GRCh38]
ChrX:56591334 [GRCh37]
ChrX:Xp11.21		 uncertain significance
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_013444.4(UBQLN2):c.1318C>T (p.Pro440Ser) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV003642273]|not specified [RCV004877827] ChrX:56565191 [GRCh38]
ChrX:56591624 [GRCh37]
ChrX:Xp11.21		 likely benign|uncertain significance
NM_013444.4(UBQLN2):c.141G>A (p.Ala47=) single nucleotide variant UBQLN2-related disorder [RCV003934524]|not provided [RCV005242514] ChrX:56564014 [GRCh38]
ChrX:56590447 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_013444.4(UBQLN2):c.1728G>C (p.Pro576=) single nucleotide variant UBQLN2-related disorder [RCV003913854] ChrX:56565601 [GRCh38]
ChrX:56592034 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_013444.4(UBQLN2):c.1457G>C (p.Gly486Ala) single nucleotide variant UBQLN2-related disorder [RCV003974217] ChrX:56565330 [GRCh38]
ChrX:56591763 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.683C>A (p.Pro228Gln) single nucleotide variant UBQLN2-related disorder [RCV004753887] ChrX:56564556 [GRCh38]
ChrX:56590989 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.901T>C (p.Ser301Pro) single nucleotide variant UBQLN2-related disorder [RCV004752660] ChrX:56564774 [GRCh38]
ChrX:56591207 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.80C>T (p.Pro27Leu) single nucleotide variant not specified [RCV004883820] ChrX:56563953 [GRCh38]
ChrX:56590386 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.1619G>A (p.Ser540Asn) single nucleotide variant not specified [RCV004883821] ChrX:56565492 [GRCh38]
ChrX:56591925 [GRCh37]
ChrX:Xp11.21		 uncertain significance
NM_013444.4(UBQLN2):c.39C>A (p.Pro13=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV005065752] ChrX:56563912 [GRCh38]
ChrX:56590345 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_013444.4(UBQLN2):c.1758G>T (p.Leu586=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV005185645] ChrX:56565631 [GRCh38]
ChrX:56592064 [GRCh37]
ChrX:Xp11.21		 likely benign
NM_013444.4(UBQLN2):c.1764G>A (p.Gln588=) single nucleotide variant Amyotrophic lateral sclerosis type 15 [RCV005168904] ChrX:56565637 [GRCh38]
ChrX:56592070 [GRCh37]
ChrX:Xp11.21		 uncertain significance
miRNA Target Status (No longer updated)

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR34Ahsa-miR-34a-5pTarbaseexternal_infoProteomicsPOSITIVE

Predicted Target Of
Summary Value
Count of predictions:1377
Count of miRNA genes:635
Interacting mature miRNAs:702
Transcripts:ENST00000338222
Prediction methods:Microtar, Miranda, Pita, Rnahybrid
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
A004O20  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X56,593,149 - 56,593,296UniSTSGRCh37
Build 36X56,609,874 - 56,610,021RGDNCBI36
CeleraX60,425,433 - 60,425,580RGD
Cytogenetic MapXp11.21UniSTS
HuRefX53,645,353 - 53,645,500UniSTS
GeneMap99-GB4 RH MapX190.03UniSTS
RH36076  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X56,591,807 - 56,591,960UniSTSGRCh37
Build 36X56,608,532 - 56,608,685RGDNCBI36
CeleraX60,424,091 - 60,424,244RGD
Cytogenetic MapXp11.21UniSTS
GeneMap99-GB4 RH MapX190.03UniSTS
UBQLN2_9620  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X56,592,707 - 56,593,530UniSTSGRCh37
Build 36X56,609,432 - 56,610,255RGDNCBI36
CeleraX60,424,991 - 60,425,814RGD
HuRefX53,644,911 - 53,645,734UniSTS
MARC_14449-14450:1010425235:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X56,592,532 - 56,592,965UniSTSGRCh37
Build 36X56,609,257 - 56,609,690RGDNCBI36
CeleraX60,424,816 - 60,425,249RGD
HuRefX53,644,736 - 53,645,169UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2438 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1616 175 1

Sequence


Ensembl Acc Id: ENST00000338222   ⟹   ENSP00000345195
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX56,563,627 - 56,567,868 (+)Ensembl
RefSeq Acc Id: NM_013444   ⟹   NP_038472
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X56,563,627 - 56,567,868 (+)NCBI
GRCh37X56,590,025 - 56,593,443 (+)NCBI
Build 36X56,606,797 - 56,610,102 (+)NCBI Archive
HuRefX53,642,196 - 53,645,647 (+)ENTREZGENE
CHM1_1X56,580,226 - 56,583,643 (+)NCBI
T2T-CHM13v2.0X55,856,941 - 55,861,182 (+)NCBI
Sequence:
RefSeq Acc Id: NP_038472   ⟸   NM_013444
- UniProtKB: Q9H3W6 (UniProtKB/Swiss-Prot),   Q5D027 (UniProtKB/Swiss-Prot),   O94798 (UniProtKB/Swiss-Prot),   Q9HAZ4 (UniProtKB/Swiss-Prot),   Q9UHD9 (UniProtKB/Swiss-Prot),   B4DZF1 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000345195   ⟸   ENST00000338222
Protein Domains
STI1   UBA   Ubiquitin-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UHD9-F1-model_v2 AlphaFold Q9UHD9 1-624 view protein structure

Promoters
RGD ID:6809356
Promoter ID:HG_KWN:67011
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_013444,   OTTHUMT00000056891
Position:
Human AssemblyChrPosition (strand)Source
Build 36X56,605,801 - 56,608,627 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12509 AgrOrtholog
COSMIC UBQLN2 COSMIC
Ensembl Genes ENSG00000188021 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000338222 ENTREZGENE
  ENST00000338222.7 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.260.100 UniProtKB/Swiss-Prot
  DNA helicase RuvA subunit, C-terminal domain UniProtKB/Swiss-Prot
  Phosphatidylinositol 3-kinase Catalytic Subunit, Chain A, domain 1 UniProtKB/Swiss-Prot
GTEx ENSG00000188021 GTEx
HGNC ID HGNC:12509 ENTREZGENE
Human Proteome Map UBQLN2 Human Proteome Map
InterPro ARM-type_fold UniProtKB/Swiss-Prot
  STI1_HS-bd UniProtKB/Swiss-Prot
  UBA UniProtKB/Swiss-Prot
  UBA-like_sf UniProtKB/Swiss-Prot
  Ubiquilin UniProtKB/Swiss-Prot
  Ubiquitin-like_domsf UniProtKB/Swiss-Prot
  Ubiquitin_dom UniProtKB/Swiss-Prot
KEGG Report hsa:29978 UniProtKB/Swiss-Prot
NCBI Gene 29978 ENTREZGENE
OMIM 300264 OMIM
PANTHER PTHR10677:SF5 UniProtKB/Swiss-Prot
  UBIQUILIN UniProtKB/Swiss-Prot
Pfam UBA UniProtKB/Swiss-Prot
  ubiquitin UniProtKB/Swiss-Prot
  UBQLN1 UniProtKB/Swiss-Prot
PharmGKB PA37156 PharmGKB
PROSITE UBA UniProtKB/Swiss-Prot
  UBIQUITIN_2 UniProtKB/Swiss-Prot
SMART STI1 UniProtKB/Swiss-Prot
  UBA UniProtKB/Swiss-Prot
  UBQ UniProtKB/Swiss-Prot
Superfamily-SCOP SSF46934 UniProtKB/Swiss-Prot
  SSF48371 UniProtKB/Swiss-Prot
  SSF54236 UniProtKB/Swiss-Prot
UniProt B4DZF1 ENTREZGENE, UniProtKB/TrEMBL
  O94798 ENTREZGENE
  Q5D027 ENTREZGENE
  Q9H3W6 ENTREZGENE
  Q9HAZ4 ENTREZGENE
  Q9UHD9 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary O94798 UniProtKB/Swiss-Prot
  Q5D027 UniProtKB/Swiss-Prot
  Q9H3W6 UniProtKB/Swiss-Prot
  Q9HAZ4 UniProtKB/Swiss-Prot