NDUFB11 (NADH:ubiquinone oxidoreductase subunit B11) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: NDUFB11 (NADH:ubiquinone oxidoreductase subunit B11) Homo sapiens
Analyze
Symbol: NDUFB11
Name: NADH:ubiquinone oxidoreductase subunit B11
RGD ID: 1347474
HGNC Page HGNC:20372
Description: Involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrial inner membrane. Part of mitochondrial respiratory chain complex I. Implicated in linear skin defects with multiple congenital anomalies 3 and nuclear type mitochondrial complex I deficiency 30.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CI-ESSS; complex I NP17.3 subunit; complex I-ESSS; ESSS; FLJ20494; LSDMCA3; MC1DN30; MGC111182; NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa; NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial; NADH-ubiquinone oxidoreductase ESSS subunit; neuronal protein 17.3; Np15; NP17.3; P17.3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: NDUFB11P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X47,142,216 - 47,145,491 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX47,142,071 - 47,145,466 (-)EnsemblGRCh38hg38GRCh38
GRCh37X47,001,615 - 47,004,890 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X46,886,563 - 46,889,381 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X46,757,872 - 46,760,691NCBI
CeleraX51,196,935 - 51,199,928 (-)NCBICelera
Cytogenetic MapXp11.3NCBI
HuRefX44,714,096 - 44,714,626 (-)NCBIHuRef
CHM1_1X47,033,379 - 47,036,366 (-)NCBICHM1_1
T2T-CHM13v2.0X46,551,936 - 46,555,216 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Biological Process

Cellular Component

Molecular Function

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

Human Phenotype
Abnormal cardiac septum morphology  (IAGP)
Abnormal dental enamel morphology  (IAGP)
Abnormal earlobe morphology  (IAGP)
Abnormal eyelash morphology  (IAGP)
Abnormal eyelid morphology  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal fallopian tube morphology  (IAGP)
Abnormal mitochondria in muscle tissue  (IAGP)
Abnormal nasolacrimal system morphology  (IAGP)
Abnormal penis morphology  (IAGP)
Abnormal rectum morphology  (IAGP)
Abnormal testis morphology  (IAGP)
Abnormal vitreous humor morphology  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Abnormality of skin pigmentation  (IAGP)
Abnormality of the anus  (IAGP)
Abnormality of the ear  (IAGP)
Abnormality of the nail  (IAGP)
Absent septum pellucidum  (IAGP)
Agenesis of corpus callosum  (IAGP)
Ambiguous genitalia  (IAGP)
Amblyopia  (IAGP)
Anal atresia  (IAGP)
Anophthalmia  (IAGP)
Anteriorly placed anus  (IAGP)
Aphasia  (IAGP)
Aplasia/Hypoplasia of the skin  (IAGP)
Arrhythmia  (IAGP)
Asymmetric, linear skin defects  (IAGP)
Ataxia  (IAGP)
Atrial septal defect  (IAGP)
Autism  (IAGP)
Axial hypotonia  (IAGP)
Blindness  (IAGP)
Cardiac arrest  (IAGP)
Cataract  (IAGP)
Chordee  (IAGP)
Chorioretinal dysplasia  (IAGP)
Cleft earlobe  (IAGP)
Cleft palate  (IAGP)
Clitoral hypertrophy  (IAGP)
Colonic atresia  (IAGP)
Colpocephaly  (IAGP)
Congenital diaphragmatic hernia  (IAGP)
Congenital onset  (IAGP)
Congestive heart failure  (IAGP)
Corneal opacity  (IAGP)
Decreased activity of mitochondrial complex I  (IAGP)
Delayed eruption of primary teeth  (IAGP)
Dermal atrophy  (IAGP)
Diabetes mellitus  (IAGP)
Dilated cardiomyopathy  (IAGP)
Dyspnea  (IAGP)
Echolalia  (IAGP)
Encephalopathy  (IAGP)
Epispadias  (IAGP)
Erythema  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Fetal distress  (IAGP)
Focal T2 hyperintense brainstem lesion  (IAGP)
Functional motor deficit  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hearing impairment  (IAGP)
Hepatomegaly  (IAGP)
High myopia  (IAGP)
Histiocytoid cardiomyopathy  (IAGP)
Hydrocephalus  (IAGP)
Hyperpigmentation of the skin  (IAGP)
Hyperpigmented streaks  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypoglycemia  (IAGP)
Hypopigmented skin patches  (IAGP)
Hypoplasia of the uterus  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Increased CSF lactate  (IAGP)
Increased serum pyruvate  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Iris coloboma  (IAGP)
Junctional ectopic tachycardia  (IAGP)
Lacrimal duct atresia  (IAGP)
Lactic acidosis  (IAGP)
Lateral ventricle dilatation  (IAGP)
Lethargy  (IAGP)
Leukodystrophy  (IAGP)
Leukoencephalopathy  (IAGP)
Male pseudohermaphroditism  (IAGP)
Mandibular aplasia  (IAGP)
Metabolic acidosis  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Micropenis  (IAGP)
Microphthalmia  (IAGP)
Midface retrusion  (IAGP)
Mitochondrial myopathy  (IAGP)
Mitral regurgitation  (IAGP)
Mitral valve prolapse  (IAGP)
Muscle weakness  (IAGP)
Mutism  (IAGP)
Myopia  (IAGP)
Neonatal death  (IAGP)
Nystagmus  (IAGP)
Optic disc pallor  (IAGP)
Optic neuropathy  (IAGP)
Overriding aorta  (IAGP)
Ovotestis  (IAGP)
Paroxysmal involuntary eye movements  (IAGP)
Peters anomaly  (IAGP)
Pigmentary retinopathy  (IAGP)
Poor head control  (IAGP)
Posterior embryotoxon  (IAGP)
Premature birth  (IAGP)
Proximal tubulopathy  (IAGP)
Ptosis  (IAGP)
Reduced eye contact  (IAGP)
Redundant skin  (IAGP)
Respiratory distress  (IAGP)
Respiratory failure  (IAGP)
Respiratory insufficiency  (IAGP)
Retinal dysplasia  (IAGP)
Retinal dystrophy  (IAGP)
Retrognathia  (IAGP)
Sacral dimple  (IAGP)
Sclerocornea  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe short stature  (IAGP)
Short stature  (IAGP)
Single transverse palmar crease  (IAGP)
Specific learning disability  (IAGP)
Status epilepticus  (IAGP)
Strabismus  (IAGP)
Third trimester onset  (IAGP)
Thyroid C cell hyperplasia  (IAGP)
Tricuspid regurgitation  (IAGP)
Tricuspid valve prolapse  (IAGP)
Ventricular fibrillation  (IAGP)
Ventricular septal defect  (IAGP)
Ventricular tachycardia  (IAGP)
Visual loss  (IAGP)
Vitritis  (IAGP)
Vomiting  (IAGP)
Wide nasal bridge  (IAGP)
Wide nose  (IAGP)
X-linked dominant inheritance  (IAGP)
X-linked inheritance  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8889548   PMID:10544803   PMID:12381726   PMID:12477932   PMID:12611891   PMID:12975309   PMID:14702039   PMID:15489334   PMID:15772651   PMID:17292333   PMID:18029348   PMID:20301533  
PMID:20301767   PMID:21873635   PMID:21900206   PMID:22939629   PMID:23246602   PMID:24344204   PMID:25416956   PMID:25437307   PMID:25772934   PMID:25921236   PMID:26496610   PMID:27102574  
PMID:27488349   PMID:27499296   PMID:27626371   PMID:28380382   PMID:28514442   PMID:28844695   PMID:29180619   PMID:29507755   PMID:29568061   PMID:30030361   PMID:30423443   PMID:31091453  
PMID:31206022   PMID:31536960   PMID:31617661   PMID:32296183   PMID:32707033   PMID:32877691   PMID:32913203   PMID:33845483   PMID:33957083   PMID:33961781   PMID:34079125   PMID:35696571  
PMID:36675256   PMID:37642954   PMID:37827155  


Genomics

Comparative Map Data
NDUFB11
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X47,142,216 - 47,145,491 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX47,142,071 - 47,145,466 (-)EnsemblGRCh38hg38GRCh38
GRCh37X47,001,615 - 47,004,890 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X46,886,563 - 46,889,381 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X46,757,872 - 46,760,691NCBI
CeleraX51,196,935 - 51,199,928 (-)NCBICelera
Cytogenetic MapXp11.3NCBI
HuRefX44,714,096 - 44,714,626 (-)NCBIHuRef
CHM1_1X47,033,379 - 47,036,366 (-)NCBICHM1_1
T2T-CHM13v2.0X46,551,936 - 46,555,216 (-)NCBIT2T-CHM13v2.0
Ndufb11
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X20,481,565 - 20,483,858 (-)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX20,481,565 - 20,483,858 (-)EnsemblGRCm39 Ensembl
GRCm38X20,615,326 - 20,617,619 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX20,615,326 - 20,617,619 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X20,192,452 - 20,194,690 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X19,772,285 - 19,774,513 (-)NCBIMGSCv36mm8
CeleraX18,746,089 - 18,748,327 (-)NCBICelera
Cytogenetic MapXA1.3NCBI
cM MapX16.11NCBI
Ndufb11
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X4,126,317 - 4,128,575 (+)NCBIGRCr8
mRatBN7.2X1,572,805 - 1,575,063 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX1,572,785 - 1,575,062 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX1,606,809 - 1,609,067 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X5,082,507 - 5,084,765 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X1,397,809 - 1,400,067 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X1,787,266 - 1,789,524 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX1,787,266 - 1,789,524 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X2,580,319 - 2,582,577 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X12,989,912 - 12,992,170 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
CeleraX2,136,744 - 2,139,002 (+)NCBICelera
Cytogenetic MapXq11NCBI
Ndufb11
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955516934,740 - 937,207 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955516934,740 - 937,207 (+)NCBIChiLan1.0ChiLan1.0
NDUFB11
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X48,770,012 - 48,772,655 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X48,773,388 - 48,775,877 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X39,579,460 - 39,582,462 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X47,437,573 - 47,440,578 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX47,437,573 - 47,440,578 (-)Ensemblpanpan1.1panPan2
NDUFB11
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X40,744,408 - 40,746,831 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX40,744,408 - 40,746,837 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX15,119,865 - 15,122,300 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X40,878,921 - 40,881,356 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX40,878,921 - 40,881,350 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X40,866,623 - 40,869,058 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X40,854,280 - 40,856,715 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X40,947,370 - 40,949,805 (-)NCBIUU_Cfam_GSD_1.0
Ndufb11
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X33,068,679 - 33,082,944 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493650212,921,370 - 12,923,683 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493650212,921,371 - 12,923,702 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NDUFB11
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX41,770,941 - 41,774,245 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X41,770,929 - 41,773,879 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X46,878,471 - 46,881,284 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NDUFB11
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X44,336,626 - 44,339,635 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX44,336,285 - 44,340,109 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660769,594,336 - 9,597,626 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ndufb11
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248873,918,432 - 3,921,348 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248873,919,109 - 3,921,643 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NDUFB11
44 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical 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_001135998.3(NDUFB11):c.372del (p.Arg124fs) deletion Linear skin defects with multiple congenital anomalies 3 [RCV000170491] ChrX:47142407 [GRCh38]
ChrX:47001806 [GRCh37]
ChrX:Xp11.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)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:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.4-11.23(chrX:41434043-47880733)x1 copy number loss See cases [RCV000053088] ChrX:41434043..47880733 [GRCh38]
ChrX:41293296..47619970 [GRCh37]
ChrX:41178240..47625076 [NCBI36]
ChrX:Xp11.4-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX: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 Xp22.33-11.21(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 Xp22.33-11.1(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 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
NM_001135998.3(NDUFB11):c.262C>T (p.Arg88Ter) single nucleotide variant Histiocytoid cardiomyopathy [RCV000240620]|Linear skin defects with multiple congenital anomalies 1 [RCV000763626]|Linear skin defects with multiple congenital anomalies 3 [RCV000170490]|not provided [RCV000346231] ChrX:47142690 [GRCh38]
ChrX:47002089 [GRCh37]
ChrX:Xp11.3
pathogenic|likely 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
NM_001135998.3(NDUFB11):c.152C>A (p.Pro51Gln) single nucleotide variant Inborn genetic diseases [RCV002524979]|not provided [RCV000514918] ChrX:47144528 [GRCh38]
ChrX:47003927 [GRCh37]
ChrX:Xp11.3
likely benign|uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:43361870-50931794)x3 copy number gain See cases [RCV000134956] ChrX:43361870..50931794 [GRCh38]
ChrX:43221119..50674794 [GRCh37]
ChrX:43106063..50691534 [NCBI36]
ChrX:Xp11.3-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX: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-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 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-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 Xp11.3-11.23(chrX:44765664-49343053)x3 copy number gain See cases [RCV000137271] ChrX:44765664..49343053 [GRCh38]
ChrX:44624910..49218180 [GRCh37]
ChrX:44509854..49105124 [NCBI36]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.3(chrX:46464096-47419599)x2 copy number gain See cases [RCV000139661] ChrX:46464096..47419599 [GRCh38]
ChrX:46323531..47278998 [GRCh37]
ChrX:46208475..47163942 [NCBI36]
ChrX:Xp11.3
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:46971389-54130971)x3 copy number gain See cases [RCV000141567] ChrX:46971389..54130971 [GRCh38]
ChrX:46818746..53957191 [GRCh37]
ChrX:46703690..54174129 [NCBI36]
ChrX:Xp11.3-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp11.3-11.23(chrX:44632305-47607180)x2 copy number gain See cases [RCV000143089] ChrX:44632305..47607180 [GRCh38]
ChrX:44491551..47466579 [GRCh37]
ChrX:44376495..47351523 [NCBI36]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.2-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)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
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:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [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 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001135998.3(NDUFB11):c.338+2T>A single nucleotide variant not provided [RCV000520557] ChrX:47142612 [GRCh38]
ChrX:47002011 [GRCh37]
ChrX:Xp11.3
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_001135998.3(NDUFB11):c.361G>A (p.Glu121Lys) single nucleotide variant Linear skin defects with multiple congenital anomalies 3 [RCV002272220]|Mitochondrial complex 1 deficiency, nuclear type 30 [RCV000412600]|not provided [RCV000487272] ChrX:47142418 [GRCh38]
ChrX:47001817 [GRCh37]
ChrX:Xp11.3
pathogenic|likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
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:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [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:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
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:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [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 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
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 Xp11.23(chrX:46950670-47035430)x2 copy number gain See cases [RCV000510283] ChrX:46950670..47035430 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(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-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.23(chrX:46950670-47024580)x4 copy number gain See cases [RCV000511948] ChrX:46950670..47024580 [GRCh37]
ChrX:Xp11.23
benign
GRCh37/hg19 Xp11.3-11.23(chrX:46326268-48801984)x2 copy number gain See cases [RCV000511234] ChrX:46326268..48801984 [GRCh37]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
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(chrX:46647617-47413846)x2 copy number gain not provided [RCV000684329] ChrX:46647617..47413846 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001135998.3(NDUFB11):c.34del (p.Arg12fs) deletion not provided [RCV003221434] ChrX:47144646 [GRCh38]
ChrX:47004045 [GRCh37]
ChrX:Xp11.3
likely pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
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:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
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_001135998.3(NDUFB11):c.250G>A (p.Val84Ile) single nucleotide variant not provided [RCV000873853] ChrX:47142702 [GRCh38]
ChrX:47002101 [GRCh37]
ChrX:Xp11.3
benign|likely benign
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 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001135998.3(NDUFB11):c.390G>A (p.Glu130=) single nucleotide variant not provided [RCV000898364] ChrX:47142389 [GRCh38]
ChrX:47001788 [GRCh37]
ChrX:Xp11.3
likely benign
NM_001135998.3(NDUFB11):c.255G>C (p.Trp85Cys) single nucleotide variant not provided [RCV000970528] ChrX:47142697 [GRCh38]
ChrX:47002096 [GRCh37]
ChrX:Xp11.3
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
GRCh37/hg19 Xp11.3-11.23(chrX:43507300-48929622) copy number gain not provided [RCV000767648] ChrX:43507300..48929622 [GRCh37]
ChrX:Xp11.3-11.23
pathogenic
NM_001135998.3(NDUFB11):c.341T>G (p.Met114Arg) single nucleotide variant Inborn genetic diseases [RCV003247813] ChrX:47142438 [GRCh38]
ChrX:47001837 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_001135998.3(NDUFB11):c.25A>G (p.Ser9Gly) single nucleotide variant Inborn genetic diseases [RCV003247866] ChrX:47144655 [GRCh38]
ChrX:47004054 [GRCh37]
ChrX:Xp11.3
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
NM_001135998.3(NDUFB11):c.359G>A (p.Arg120His) single nucleotide variant Linear skin defects with multiple congenital anomalies 1 [RCV000790978] ChrX:47142420 [GRCh38]
ChrX:47001819 [GRCh37]
ChrX:Xp11.3
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001135998.3(NDUFB11):c.427G>A (p.Asp143Asn) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 30 [RCV000850183] ChrX:47142352 [GRCh38]
ChrX:47001751 [GRCh37]
ChrX:Xp11.3
uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
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_001135998.3(NDUFB11):c.207+2T>G single nucleotide variant not provided [RCV001569240] ChrX:47144471 [GRCh38]
ChrX:47003870 [GRCh37]
ChrX:Xp11.3
likely benign
NM_001135998.3(NDUFB11):c.207+15G>C single nucleotide variant not provided [RCV001576920] ChrX:47144458 [GRCh38]
ChrX:47003857 [GRCh37]
ChrX:Xp11.3
likely benign
NM_001135998.3(NDUFB11):c.283G>A (p.Val95Ile) single nucleotide variant Inborn genetic diseases [RCV003279150]|not provided [RCV000909783] ChrX:47142669 [GRCh38]
ChrX:47002068 [GRCh37]
ChrX:Xp11.3
benign|likely benign
NM_001135998.3(NDUFB11):c.338+22G>A single nucleotide variant not provided [RCV000874860] ChrX:47142592 [GRCh38]
ChrX:47001991 [GRCh37]
ChrX:Xp11.3
benign|likely benign
NM_001135998.3(NDUFB11):c.207+9C>G single nucleotide variant not provided [RCV000874047] ChrX:47144464 [GRCh38]
ChrX:47003863 [GRCh37]
ChrX:Xp11.3
benign|likely benign
NM_001135998.3(NDUFB11):c.83G>T (p.Arg28Leu) single nucleotide variant Linear skin defects with multiple congenital anomalies 3 [RCV001728125] ChrX:47144597 [GRCh38]
ChrX:47003996 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_005676.5(RBM10):c.-172C>T single nucleotide variant not provided [RCV001548244] ChrX:47145439 [GRCh38]
ChrX:47004838 [GRCh37]
ChrX:Xp11.3
likely benign
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_005676.5(RBM10):c.-149T>C single nucleotide variant not provided [RCV001719350] ChrX:47145462 [GRCh38]
ChrX:47004861 [GRCh37]
ChrX:Xp11.3
benign
GRCh37/hg19 Xp11.23(chrX:46942052-47379255)x3 copy number gain not provided [RCV001258952] ChrX:46942052..47379255 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number gain 46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
Single allele complex Turner syndrome [RCV002280670] ChrX:590376..56315041 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304) copy number loss Turner syndrome [RCV002280671] ChrX:168546..57841304 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001135998.3(NDUFB11):c.327G>C (p.Leu109=) single nucleotide variant not provided [RCV001311064] ChrX:47142625 [GRCh38]
ChrX:47002024 [GRCh37]
ChrX:Xp11.3
likely benign
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001135998.3(NDUFB11):c.2T>A (p.Met1Lys) single nucleotide variant Linear skin defects with multiple congenital anomalies 3 [RCV001353104] ChrX:47144678 [GRCh38]
ChrX:47004077 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_001135998.3(NDUFB11):c.145_152dup (p.Thr52fs) duplication Neurodevelopmental disorder [RCV001374959] ChrX:47144527..47144528 [GRCh38]
ChrX:47003926..47003927 [GRCh37]
ChrX:Xp11.3
likely pathogenic
NC_000023.10:g.(?_46696536)_(47436910_?)dup duplication Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders [RCV001309817] ChrX:46696536..47436910 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001135998.3(NDUFB11):c.260T>C (p.Met87Thr) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 30 [RCV001328582] ChrX:47142692 [GRCh38]
ChrX:47002091 [GRCh37]
ChrX:Xp11.3
uncertain significance
NC_000023.11:g.47142212C>T single nucleotide variant not provided [RCV001698929] ChrX:47142212 [GRCh38]
ChrX:47001611 [GRCh37]
ChrX:Xp11.3
benign
NM_001135998.3(NDUFB11):c.207+4A>G single nucleotide variant not provided [RCV001679043] ChrX:47144469 [GRCh38]
ChrX:47003868 [GRCh37]
ChrX:Xp11.3
benign
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789) copy number loss Turner syndrome [RCV002280669] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV001834509] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001135998.3(NDUFB11):c.358C>T (p.Arg120Cys) single nucleotide variant not provided [RCV001913561] ChrX:47142421 [GRCh38]
ChrX:47001820 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_001135998.3(NDUFB11):c.415T>G (p.Ser139Ala) single nucleotide variant not provided [RCV001965001] ChrX:47142364 [GRCh38]
ChrX:47001763 [GRCh37]
ChrX:Xp11.3
conflicting interpretations of pathogenicity|uncertain significance
NM_001135998.3(NDUFB11):c.355C>T (p.Arg119Cys) single nucleotide variant not provided [RCV001876806] ChrX:47142424 [GRCh38]
ChrX:47001823 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_001135998.3(NDUFB11):c.229G>A (p.Asp77Asn) single nucleotide variant not provided [RCV001919006] ChrX:47142723 [GRCh38]
ChrX:47002122 [GRCh37]
ChrX:Xp11.3
uncertain significance
NC_000023.10:g.(?_46618120)_(48549553_?)del deletion X-linked severe congenital neutropenia [RCV003111118]|not provided [RCV003122288] ChrX:46618120..48549553 [GRCh37]
ChrX:Xp11.23
pathogenic|no classifications from unflagged records
NC_000023.10:g.(?_46466387)_(50659607_?)del deletion Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV003116676] ChrX:46466387..50659607 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
NC_000023.10:g.(?_46466387)_(47489243_?)del deletion Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders [RCV003123056] ChrX:46466387..47489243 [GRCh37]
ChrX:Xp11.23
pathogenic
NC_000023.10:g.(?_47001716)_(50659607_?)dup duplication Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders [RCV003122411]|Neurodegeneration with brain iron accumulation 5 [RCV003105408]|SLC35A2-congenital disorder of glycosylation [RCV003122412] ChrX:47001716..50659607 [GRCh37]
ChrX:Xp11.23-11.22
uncertain significance
NM_001135998.3(NDUFB11):c.416C>T (p.Ser139Phe) single nucleotide variant not specified [RCV002250128] ChrX:47142363 [GRCh38]
ChrX:47001762 [GRCh37]
ChrX:Xp11.3
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 Xp22.33-q28(chrX:61545-155226048)x2 copy number gain Klinefelter syndrome [RCV002282732] ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 copy number loss See cases [RCV002286357] ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001135998.3(NDUFB11):c.445C>A (p.Leu149Met) single nucleotide variant not provided [RCV002273604] ChrX:47142334 [GRCh38]
ChrX:47001733 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_001135998.3(NDUFB11):c.270CTT[2] (p.Phe93del) microsatellite not provided [RCV003149194] ChrX:47142674..47142676 [GRCh38]
ChrX:47002073..47002075 [GRCh37]
ChrX:Xp11.3
pathogenic
GRCh37/hg19 Xp11.23(chrX:46780978-47184052)x3 copy number gain not provided [RCV002473734] ChrX:46780978..47184052 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp11.4-11.22(chrX:39525562-52832596)x3 copy number gain not provided [RCV002474503] ChrX:39525562..52832596 [GRCh37]
ChrX:Xp11.4-11.22
pathogenic
NM_001135998.3(NDUFB11):c.286T>C (p.Ser96Pro) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 30 [RCV002468751] ChrX:47142666 [GRCh38]
ChrX:47002065 [GRCh37]
ChrX:Xp11.3
likely pathogenic
NM_001135998.3(NDUFB11):c.258C>T (p.Asn86=) single nucleotide variant not provided [RCV002972235] ChrX:47142694 [GRCh38]
ChrX:47002093 [GRCh37]
ChrX:Xp11.3
likely benign
NM_001135998.3(NDUFB11):c.231C>A (p.Asp77Glu) single nucleotide variant not provided [RCV002971425] ChrX:47142721 [GRCh38]
ChrX:47002120 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_001135998.3(NDUFB11):c.404C>T (p.Pro135Leu) single nucleotide variant not provided [RCV002512406] ChrX:47142375 [GRCh38]
ChrX:47001774 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_001135998.3(NDUFB11):c.338+21C>T single nucleotide variant not provided [RCV002927523] ChrX:47142593 [GRCh38]
ChrX:47001992 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_001135998.3(NDUFB11):c.338+22G>T single nucleotide variant not provided [RCV002866955] ChrX:47142592 [GRCh38]
ChrX:47001991 [GRCh37]
ChrX:Xp11.3
likely benign
NM_001135998.3(NDUFB11):c.360C>T (p.Arg120=) single nucleotide variant not provided [RCV002705821] ChrX:47142419 [GRCh38]
ChrX:47001818 [GRCh37]
ChrX:Xp11.3
likely benign
NM_001135998.3(NDUFB11):c.426C>T (p.Phe142=) single nucleotide variant not provided [RCV002979164] ChrX:47142353 [GRCh38]
ChrX:47001752 [GRCh37]
ChrX:Xp11.3
likely benign
NM_001135998.3(NDUFB11):c.268G>A (p.Val90Ile) single nucleotide variant not provided [RCV002871658] ChrX:47142684 [GRCh38]
ChrX:47002083 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_001135998.3(NDUFB11):c.338+11T>C single nucleotide variant not provided [RCV002594772] ChrX:47142603 [GRCh38]
ChrX:47002002 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_001135998.3(NDUFB11):c.249C>T (p.Asp83=) single nucleotide variant not provided [RCV002766826] ChrX:47142703 [GRCh38]
ChrX:47002102 [GRCh37]
ChrX:Xp11.3
likely benign
NM_001135998.3(NDUFB11):c.252C>T (p.Val84=) single nucleotide variant not provided [RCV003058236] ChrX:47142700 [GRCh38]
ChrX:47002099 [GRCh37]
ChrX:Xp11.3
likely benign
NM_001135998.3(NDUFB11):c.240C>A (p.Pro80=) single nucleotide variant not provided [RCV002893909] ChrX:47142712 [GRCh38]
ChrX:47002111 [GRCh37]
ChrX:Xp11.3
likely benign
NM_001135998.3(NDUFB11):c.181C>T (p.Pro61Ser) single nucleotide variant Inborn genetic diseases [RCV002747400] ChrX:47144499 [GRCh38]
ChrX:47003898 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_001135998.3(NDUFB11):c.338+17A>G single nucleotide variant not provided [RCV002937549] ChrX:47142597 [GRCh38]
ChrX:47001996 [GRCh37]
ChrX:Xp11.3
uncertain significance
NC_000023.10:g.(?_46466387)_(51241672_?)del deletion not provided [RCV003154905] ChrX:46466387..51241672 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
NM_001135998.3(NDUFB11):c.385C>T (p.Arg129Ter) single nucleotide variant Linear skin defects with multiple congenital anomalies 3 [RCV003335968]|NDUFB11-related condition [RCV003397012] ChrX:47142394 [GRCh38]
ChrX:47001793 [GRCh37]
ChrX:Xp11.3
likely pathogenic
GRCh37/hg19 Xp11.3-11.23(chrX:44663115-48237646)x3 copy number gain not provided [RCV003485287] ChrX:44663115..48237646 [GRCh37]
ChrX:Xp11.3-11.23
uncertain significance
GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1 copy number loss not provided [RCV003483407] ChrX:2696762..53113314 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1 copy number loss not provided [RCV003483920] ChrX:36355238..54106257 [GRCh37]
ChrX:Xp21.1-11.22
pathogenic
NM_001135998.3(NDUFB11):c.69G>A (p.Pro23=) single nucleotide variant not provided [RCV003438171] ChrX:47144611 [GRCh38]
ChrX:47004010 [GRCh37]
ChrX:Xp11.3
likely benign
NM_001135998.3(NDUFB11):c.124G>T (p.Ala42Ser) single nucleotide variant not provided [RCV003438170] ChrX:47144556 [GRCh38]
ChrX:47003955 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_001135998.3(NDUFB11):c.427G>C (p.Asp143His) single nucleotide variant NDUFB11-related condition [RCV003416975] ChrX:47142352 [GRCh38]
ChrX:47001751 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_001135998.3(NDUFB11):c.282C>G (p.Gly94=) single nucleotide variant not provided [RCV003438169] ChrX:47142670 [GRCh38]
ChrX:47002069 [GRCh37]
ChrX:Xp11.3
likely benign
NM_001135998.3(NDUFB11):c.208-10T>G single nucleotide variant not provided [RCV003694732] ChrX:47142754 [GRCh38]
ChrX:47002153 [GRCh37]
ChrX:Xp11.3
likely benign
NM_001135998.3(NDUFB11):c.282C>T (p.Gly94=) single nucleotide variant not specified [RCV003489682] ChrX:47142670 [GRCh38]
ChrX:47002069 [GRCh37]
ChrX:Xp11.3
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:701
Count of miRNA genes:354
Interacting mature miRNAs:384
Transcripts:ENST00000276062, ENST00000377811
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
RH12608  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X47,001,761 - 47,002,071UniSTSGRCh37
Build 36X46,886,705 - 46,887,015RGDNCBI36
CeleraX51,197,081 - 51,197,391RGD
Cytogenetic MapXp11.23UniSTS
HuRefX44,714,242 - 44,714,552UniSTS
GeneMap99-GB4 RH MapX138.25UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 24
Medium 2432 2981 1723 622 1945 464 4355 2191 3708 417 1424 1608 171 1204 2788 4
Low 3 5 3 1 4 2 7 2 2 1 3 2 1
Below cutoff 2 2 2 1 2 19 10 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NG_052579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001135998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_019056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA287166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF044213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF134476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF251063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL513366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY359056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC107805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU682304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS488904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000276062   ⟹   ENSP00000276062
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX47,142,216 - 47,144,710 (-)Ensembl
RefSeq Acc Id: ENST00000377811   ⟹   ENSP00000367042
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX47,142,216 - 47,144,702 (-)Ensembl
RefSeq Acc Id: ENST00000685599
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX47,142,240 - 47,144,260 (-)Ensembl
RefSeq Acc Id: ENST00000687244   ⟹   ENSP00000509334
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX47,142,071 - 47,145,466 (-)Ensembl
RefSeq Acc Id: ENST00000688286   ⟹   ENSP00000510534
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX47,142,614 - 47,144,702 (-)Ensembl
RefSeq Acc Id: ENST00000690053   ⟹   ENSP00000509556
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX47,142,216 - 47,144,688 (-)Ensembl
RefSeq Acc Id: ENST00000690204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX47,142,216 - 47,144,378 (-)Ensembl
RefSeq Acc Id: ENST00000692649   ⟹   ENSP00000510488
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX47,142,216 - 47,144,707 (-)Ensembl
RefSeq Acc Id: NM_001135998   ⟹   NP_001129470
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,142,216 - 47,144,702 (-)NCBI
GRCh37X47,001,615 - 47,004,609 (-)RGD
CeleraX51,196,935 - 51,199,928 (-)RGD
HuRefX44,714,096 - 44,714,626 (-)RGD
CHM1_1X47,033,379 - 47,036,366 (-)NCBI
T2T-CHM13v2.0X46,551,936 - 46,554,427 (-)NCBI
Sequence:
RefSeq Acc Id: NM_019056   ⟹   NP_061929
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,142,216 - 47,145,491 (-)NCBI
GRCh37X47,001,615 - 47,004,609 (-)RGD
Build 36X46,886,563 - 46,889,381 (-)NCBI Archive
CeleraX51,196,935 - 51,199,928 (-)RGD
HuRefX44,714,096 - 44,714,626 (-)RGD
CHM1_1X47,033,379 - 47,036,366 (-)NCBI
T2T-CHM13v2.0X46,551,936 - 46,555,216 (-)NCBI
Sequence:
RefSeq Acc Id: NP_061929   ⟸   NM_019056
- Peptide Label: isoform 1
- UniProtKB: Q7Z4X2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001129470   ⟸   NM_001135998
- Peptide Label: isoform 2
- UniProtKB: Q8WZ96 (UniProtKB/Swiss-Prot),   Q6IAB6 (UniProtKB/Swiss-Prot),   Q5JRR4 (UniProtKB/Swiss-Prot),   Q5JRR3 (UniProtKB/Swiss-Prot),   Q9BXX9 (UniProtKB/Swiss-Prot),   Q9NX14 (UniProtKB/Swiss-Prot),   Q7Z4X2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000367042   ⟸   ENST00000377811
RefSeq Acc Id: ENSP00000276062   ⟸   ENST00000276062
RefSeq Acc Id: ENSP00000509556   ⟸   ENST00000690053
RefSeq Acc Id: ENSP00000509334   ⟸   ENST00000687244
RefSeq Acc Id: ENSP00000510488   ⟸   ENST00000692649
RefSeq Acc Id: ENSP00000510534   ⟸   ENST00000688286

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NX14-F1-model_v2 AlphaFold Q9NX14 1-153 view protein structure

Promoters
RGD ID:6850998
Promoter ID:EP73295
Type:multiple initiation site
Name:HS_P17
Description:Neuronal protein 17.3.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36X46,889,035 - 46,889,095EPD
RGD ID:6809065
Promoter ID:HG_KWN:66579
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000377811,   NR_024234
Position:
Human AssemblyChrPosition (strand)Source
Build 36X46,889,061 - 46,890,447 (-)MPROMDB
RGD ID:13605142
Promoter ID:EPDNEW_H28755
Type:initiation region
Name:NDUFB11_1
Description:NADH:ubiquinone oxidoreductase subunit B11
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28757  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,144,691 - 47,144,751EPDNEW
RGD ID:13605144
Promoter ID:EPDNEW_H28757
Type:initiation region
Name:NDUFB11_2
Description:NADH:ubiquinone oxidoreductase subunit B11
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28755  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,145,053 - 47,145,113EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20372 AgrOrtholog
COSMIC NDUFB11 COSMIC
Ensembl Genes ENSG00000147123 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000276062.9 UniProtKB/TrEMBL
  ENST00000377811 ENTREZGENE
  ENST00000377811.4 UniProtKB/Swiss-Prot
  ENST00000687244 ENTREZGENE
  ENST00000687244.1 UniProtKB/Swiss-Prot
  ENST00000688286.1 UniProtKB/TrEMBL
  ENST00000690053.1 UniProtKB/TrEMBL
  ENST00000692649.1 UniProtKB/TrEMBL
GTEx ENSG00000147123 GTEx
HGNC ID HGNC:20372 ENTREZGENE
Human Proteome Map NDUFB11 Human Proteome Map
InterPro NADH_UbQ_OxRdtase_ESSS_su UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:54539 UniProtKB/Swiss-Prot
NCBI Gene 54539 ENTREZGENE
OMIM 300403 OMIM
PANTHER NADH DEHYDROGENASE [UBIQUINONE] 1 BETA SUBCOMPLEX SUBUNIT 11, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR13327 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ESSS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134924203 PharmGKB
UniProt A0A8I5KQF7_HUMAN UniProtKB/TrEMBL
  A0A8I5KTD1_HUMAN UniProtKB/TrEMBL
  A0A8I5KTJ9_HUMAN UniProtKB/TrEMBL
  A0A8J8YU24_HUMAN UniProtKB/TrEMBL
  NDUBB_HUMAN UniProtKB/Swiss-Prot
  Q5JRR3 ENTREZGENE
  Q5JRR4 ENTREZGENE
  Q6IAB6 ENTREZGENE
  Q7Z4X2 ENTREZGENE, UniProtKB/TrEMBL
  Q8WZ96 ENTREZGENE
  Q9BXX9 ENTREZGENE
  Q9NX14 ENTREZGENE
UniProt Secondary Q5JRR3 UniProtKB/Swiss-Prot
  Q5JRR4 UniProtKB/Swiss-Prot
  Q6IAB6 UniProtKB/Swiss-Prot
  Q8WZ96 UniProtKB/Swiss-Prot
  Q9BXX9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 NDUFB11  NADH:ubiquinone oxidoreductase subunit B11  NDUFB11  NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa  Symbol and/or name change 5135510 APPROVED