TIMM8A (translocase of inner mitochondrial membrane 8A) - Rat Genome Database

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Gene: TIMM8A (translocase of inner mitochondrial membrane 8A) Homo sapiens
Analyze
Symbol: TIMM8A
Name: translocase of inner mitochondrial membrane 8A
RGD ID: 1350353
HGNC Page HGNC
Description: Exhibits identical protein binding activity. Predicted to be involved in chaperone-mediated protein transport and nervous system development. Localizes to mitochondrial intermembrane space. Implicated in deafness-dystonia-optic neuronopathy syndrome and dystonia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DDP; DDP1; deafness dystonia protein 1; deafness/dystonia peptide; DFN1; MGC12262; mitochondrial import inner membrane translocase subunit Tim8 A; MTS; TIM8; translocase of inner mitochondrial membrane 8 homolog A; translocase of inner mitochondrial membrane 8 homolog A (yeast); X-linked deafness dystonia protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: TIMM8AP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX101,345,661 - 101,348,742 (-)EnsemblGRCh38hg38GRCh38
GRCh38X101,345,661 - 101,348,742 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X100,600,649 - 100,603,730 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X100,487,306 - 100,490,343 (-)NCBINCBI36hg18NCBI36
Build 34X100,406,794 - 100,409,832NCBI
CeleraX101,120,103 - 101,123,416 (-)NCBI
Cytogenetic MapXq22.1NCBI
HuRefX90,406,792 - 90,410,105 (-)NCBIHuRef
CHM1_1X100,494,127 - 100,497,440 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
acetamide  (ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
butanal  (EXP)
carbon nanotube  (EXP,ISO)
choline  (ISO)
chromium(6+)  (ISO)
cisplatin  (ISO)
clobetasol  (ISO)
clofibric acid  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
cypermethrin  (ISO)
dibutyl phthalate  (ISO)
dioxygen  (ISO)
doxorubicin  (ISO)
elemental selenium  (EXP)
finasteride  (ISO)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP,ISO)
genistein  (ISO)
glafenine  (ISO)
L-methionine  (ISO)
leflunomide  (EXP)
methyl methanesulfonate  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
nefazodone  (ISO)
nimesulide  (ISO)
oxaliplatin  (ISO)
oxycodone  (ISO)
paracetamol  (EXP)
phenobarbital  (ISO)
phorone  (ISO)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
propiconazole  (ISO)
quercetin  (EXP)
quinolin-8-ol  (EXP)
rac-lactic acid  (EXP)
resveratrol  (ISO)
selenium atom  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
titanium dioxide  (ISO)
topotecan  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
tungsten  (ISO)
tunicamycin  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vitamin E  (EXP)

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 cochlea morphology  (IAGP)
Abnormal electroretinogram  (IAGP)
Abnormal posturing  (IAGP)
Abnormality of somatosensory evoked potentials  (IAGP)
Abnormality of the cochlear nerve  (IAGP)
Abnormality of the vestibular nerve  (IAGP)
Abnormality of visual evoked potentials  (IAGP)
Absent brainstem auditory responses  (IAGP)
Agammaglobulinemia  (IAGP)
Ankle clonus  (IAGP)
Apraxia  (IAGP)
Aspiration pneumonia  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Babinski sign  (IAGP)
Caudate atrophy  (IAGP)
Central scotoma  (IAGP)
Cerebral visual impairment  (IAGP)
Childhood onset  (IAGP)
Color vision defect  (IAGP)
Constriction of peripheral visual field  (IAGP)
Dementia  (IAGP)
Dysarthria  (IAGP)
Dysphagia  (IAGP)
Dystonia  (IAGP)
Generalized dystonia  (IAGP)
Global brain atrophy  (IAGP)
Hearing impairment  (IAGP)
Hyperactive deep tendon reflexes  (IAGP)
Hyperreflexia  (IAGP)
Inability to walk  (IAGP)
Increased susceptibility to fractures  (IAGP)
Mental deterioration  (IAGP)
Myopia  (IAGP)
Optic atrophy  (IAGP)
Oromandibular dystonia  (IAGP)
Paranoia  (IAGP)
Personality changes  (IAGP)
Photophobia  (IAGP)
Postlingual sensorineural hearing impairment  (IAGP)
Postural instability  (IAGP)
Prelingual sensorineural hearing impairment  (IAGP)
Progressive sensorineural hearing impairment  (IAGP)
Reduced visual acuity  (IAGP)
Schizophrenia  (IAGP)
Sensory neuropathy  (IAGP)
Shuffling gait  (IAGP)
Spasticity  (IAGP)
Tremor  (IAGP)
Vestibular dysfunction  (IAGP)
Visual impairment  (IAGP)
Visual loss  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:7643352   PMID:7959728   PMID:8841189   PMID:10051550   PMID:10051608   PMID:10552927   PMID:10611480   PMID:10873677   PMID:10878669   PMID:11101512   PMID:11489896   PMID:11803487  
PMID:11875042   PMID:11956200   PMID:12477932   PMID:12745081   PMID:14509668   PMID:14726512   PMID:15146197   PMID:15254020   PMID:15489334   PMID:15772651   PMID:16332536   PMID:16387659  
PMID:16411215   PMID:16611982   PMID:17353931   PMID:17534980   PMID:17851739   PMID:17999202   PMID:18029348   PMID:18187620   PMID:19615732   PMID:19913121   PMID:20301334   PMID:20301395  
PMID:20628086   PMID:20833797   PMID:21984432   PMID:22037423   PMID:22190034   PMID:22736418   PMID:23418071   PMID:24344204   PMID:25416956   PMID:25678554   PMID:25910212   PMID:26344197  
PMID:26496610   PMID:27609421   PMID:27705803   PMID:28514442   PMID:29568061   PMID:29615496   PMID:30166453   PMID:30634948   PMID:30804502   PMID:30833792   PMID:31536960   PMID:31617661  
PMID:31682224   PMID:31903733   PMID:32296183   PMID:32814053   PMID:32877691   PMID:33060197  


Genomics

Comparative Map Data
TIMM8A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX101,345,661 - 101,348,742 (-)EnsemblGRCh38hg38GRCh38
GRCh38X101,345,661 - 101,348,742 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X100,600,649 - 100,603,730 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X100,487,306 - 100,490,343 (-)NCBINCBI36hg18NCBI36
Build 34X100,406,794 - 100,409,832NCBI
CeleraX101,120,103 - 101,123,416 (-)NCBI
Cytogenetic MapXq22.1NCBI
HuRefX90,406,792 - 90,410,105 (-)NCBIHuRef
CHM1_1X100,494,127 - 100,497,440 (-)NCBICHM1_1
Timm8a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X133,438,005 - 133,442,419 (-)NCBIGRCm39mm39
GRCm39 EnsemblX133,438,005 - 133,442,614 (-)Ensembl
GRCm38X134,537,256 - 134,541,670 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX134,537,256 - 134,541,865 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X131,071,797 - 131,076,168 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X129,883,608 - 129,887,979 (-)NCBImm8
CeleraX117,416,827 - 117,421,171 (-)NCBICelera
Cytogenetic MapXE3NCBI
cM MapX56.18NCBI
Timm8a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X97,717,932 - 97,721,918 (-)NCBI
Rnor_6.0 EnsemblX105,352,402 - 105,355,716 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X105,351,714 - 105,355,722 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X105,241,128 - 105,245,441 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X121,993,810 - 121,997,685 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X122,067,242 - 122,071,118 (-)NCBI
CeleraX98,758,800 - 98,762,786 (-)NCBICelera
Cytogenetic MapXq32NCBI
Timm8a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555037,480,075 - 7,483,218 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555037,480,075 - 7,483,218 (-)NCBIChiLan1.0ChiLan1.0
TIMM8A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X100,680,224 - 100,683,553 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX100,680,224 - 100,683,544 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X90,548,212 - 90,551,534 (-)NCBIMhudiblu_PPA_v0panPan3
TIMM8A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X75,267,437 - 75,270,288 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX75,267,450 - 75,270,288 (-)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0X76,689,312 - 76,690,362 (-)NCBI
UMICH_Zoey_3.1X74,251,957 - 74,254,808 (-)NCBI
UNSW_CanFamBas_1.0X75,912,378 - 75,915,229 (-)NCBI
UU_Cfam_GSD_1.0X75,674,818 - 75,677,669 (-)NCBI
Timm8a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X63,046,368 - 63,049,115 (+)NCBI
SpeTri2.0NW_004936813425,613 - 428,722 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TIMM8A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX82,974,270 - 82,980,769 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X82,978,128 - 82,981,038 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X91,010,563 - 91,013,448 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TIMM8A
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X89,686,772 - 89,690,088 (-)NCBI
ChlSab1.1 EnsemblX89,687,304 - 89,689,810 (-)Ensembl
Timm8a
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046249021,216,991 - 1,223,426 (+)NCBI

Position Markers
RH93533  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X100,604,722 - 100,604,848UniSTSGRCh37
Build 36X100,491,378 - 100,491,504RGDNCBI36
CeleraX101,124,181 - 101,124,307RGD
Cytogenetic MapXq22.1UniSTS
Cytogenetic MapXq21.33-q22UniSTS
HuRefX90,410,870 - 90,410,996UniSTS
GeneMap99-GB4 RH MapX272.06UniSTS
G44349  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X100,604,761 - 100,604,876UniSTSGRCh37
Build 36X100,491,417 - 100,491,532RGDNCBI36
CeleraX101,124,220 - 101,124,335RGD
Cytogenetic MapXq22.1UniSTS
Cytogenetic MapXq21.33-q22UniSTS
HuRefX90,410,909 - 90,411,024UniSTS
GDB:376892  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X100,604,688 - 100,604,942UniSTSGRCh37
Build 36X100,491,344 - 100,491,598RGDNCBI36
CeleraX101,124,147 - 101,124,401RGD
Cytogenetic MapXq22.1UniSTS
Cytogenetic MapXq21.33-q22UniSTS
HuRefX90,410,836 - 90,411,090UniSTS
D20S1036  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372162,933,333 - 162,933,557UniSTSGRCh37
GRCh37X100,600,956 - 100,601,178UniSTSGRCh37
Build 36X100,487,612 - 100,487,834RGDNCBI36
Celera2156,543,635 - 156,543,859UniSTS
CeleraX101,120,415 - 101,120,637RGD
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map2q24.2UniSTS
HuRef2154,815,690 - 154,815,914UniSTS
HuRefX90,407,104 - 90,407,326UniSTS
BTK_4321  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X100,604,458 - 100,604,906UniSTSGRCh37
Build 36X100,491,114 - 100,491,562RGDNCBI36
CeleraX101,123,917 - 101,124,365RGD
HuRefX90,410,606 - 90,411,054UniSTS
RH35738  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X100,604,585 - 100,604,773UniSTSGRCh37
Build 36X100,491,241 - 100,491,429RGDNCBI36
CeleraX101,124,044 - 101,124,232RGD
Cytogenetic MapXq22.1UniSTS
Cytogenetic MapXq21.33-q22UniSTS
HuRefX90,410,733 - 90,410,921UniSTS
GeneMap99-GB4 RH MapX272.95UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR375hsa-miR-375Mirtarbaseexternal_infoLuciferase reporter assayFunctional MTI19734348
MIR375hsa-miR-375Mirtarbaseexternal_infoImmunohistochemistry//Luciferase reporter assay//MFunctional MTI19807270

Predicted Target Of
Summary Value
Count of predictions:555
Count of miRNA genes:472
Interacting mature miRNAs:515
Transcripts:ENST00000372902, ENST00000480575
Prediction methods:Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 165 7 105 96 636 99 287 55 117 96 247 264 10 8 7 2
Low 2274 2771 1621 528 1144 366 4069 2101 3589 322 1213 1349 164 1 1196 2781 4 2
Below cutoff 211 169 41 28 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000372902   ⟹   ENSP00000361993
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX101,345,661 - 101,348,742 (-)Ensembl
RefSeq Acc Id: ENST00000644112   ⟹   ENSP00000494385
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX101,345,661 - 101,348,742 (-)Ensembl
RefSeq Acc Id: ENST00000645279   ⟹   ENSP00000494239
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX101,345,661 - 101,348,685 (-)Ensembl
RefSeq Acc Id: ENST00000647480
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX101,345,784 - 101,348,575 (-)Ensembl
RefSeq Acc Id: NM_001145951   ⟹   NP_001139423
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,345,661 - 101,348,742 (-)NCBI
GRCh37X100,575,548 - 100,603,957 (-)NCBI
HuRefX90,406,792 - 90,410,105 (-)ENTREZGENE
CHM1_1X100,496,509 - 100,497,191 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004085   ⟹   NP_004076
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,345,661 - 101,348,742 (-)NCBI
GRCh37X100,575,548 - 100,603,957 (-)NCBI
Build 36X100,487,306 - 100,490,343 (-)NCBI Archive
HuRefX90,406,792 - 90,410,105 (-)ENTREZGENE
CHM1_1X100,494,127 - 100,497,440 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004076   ⟸   NM_004085
- Peptide Label: isoform 1
- UniProtKB: O60220 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001139423   ⟸   NM_001145951
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: ENSP00000361993   ⟸   ENST00000372902
RefSeq Acc Id: ENSP00000494385   ⟸   ENST00000644112
RefSeq Acc Id: ENSP00000494239   ⟸   ENST00000645279
Protein Domains
zf-Tim10_DDP

Promoters
RGD ID:6809325
Promoter ID:HG_KWN:67498
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:OTTHUMT00000057554,   OTTHUMT00000057555
Position:
Human AssemblyChrPosition (strand)Source
Build 36X100,490,156 - 100,490,656 (-)MPROMDB
RGD ID:6852302
Promoter ID:EP73958
Type:initiation region
Name:HS_TIMM8A
Description:Translocase of inner mitochondrial membrane 8 homolog A (yeast).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 36X100,490,871 - 100,490,931EPD
RGD ID:13627616
Promoter ID:EPDNEW_H29083
Type:initiation region
Name:TIMM8A_1
Description:translocase of inner mitochondrial membrane 8A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29084  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,348,718 - 101,348,778EPDNEW
RGD ID:13627618
Promoter ID:EPDNEW_H29084
Type:preliminary
Name:TIMM8A_2
Description:translocase of inner mitochondrial membrane 8A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29083  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,349,227 - 101,349,287EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004085.4(TIMM8A):c.112C>T (p.Gln38Ter) single nucleotide variant Deafness dystonia syndrome [RCV000020579] ChrX:101348553 [GRCh38]
ChrX:100603541 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_004085.4(TIMM8A):c.*503_*505dup duplication Deafness dystonia syndrome [RCV000020580] ChrX:101345993..101345994 [GRCh38]
ChrX:100600981..100600982 [GRCh37]
ChrX:Xq22.1
benign
NM_004085.4(TIMM8A):c.116del (p.Met39fs) deletion Deafness dystonia syndrome [RCV000012070] ChrX:101348549 [GRCh38]
ChrX:100603537 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_004085.4(TIMM8A):c.148_157del (p.Lys50fs) deletion Deafness dystonia syndrome [RCV000012071] ChrX:101346636..101346645 [GRCh38]
ChrX:100601624..100601633 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_004085.4(TIMM8A):c.70G>T (p.Glu24Ter) single nucleotide variant Deafness dystonia syndrome [RCV000012072] ChrX:101348595 [GRCh38]
ChrX:100603583 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_004085.4(TIMM8A):c.198C>G (p.Cys66Trp) single nucleotide variant Deafness dystonia syndrome [RCV000012073] ChrX:101346595 [GRCh38]
ChrX:100601583 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_004085.4(TIMM8A):c.73del (p.Glu24_Val25insTer) deletion Deafness dystonia syndrome [RCV000012074] ChrX:101348592 [GRCh38]
ChrX:100603580 [GRCh37]
ChrX:Xq22.1
pathogenic
TIMM8A, DEL deletion Deafness dystonia syndrome [RCV000012075] ChrX:Xq22 pathogenic
NM_004085.4(TIMM8A):c.238C>T (p.Arg80Ter) single nucleotide variant Deafness dystonia syndrome [RCV000012076] ChrX:101346555 [GRCh38]
ChrX:100601543 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_004085.4(TIMM8A):c.133-23A>C single nucleotide variant Deafness dystonia syndrome [RCV000012077] ChrX:101346683 [GRCh38]
ChrX:100601671 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_004085.4(TIMM8A):c.127del (p.Cys43fs) deletion Deafness dystonia syndrome [RCV000012078] ChrX:101348538 [GRCh38]
ChrX:100603526 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_004085.4(TIMM8A):c.132+158A>G single nucleotide variant not specified [RCV000037058] ChrX:101348375 [GRCh38]
ChrX:100603363 [GRCh37]
ChrX:Xq22.1
benign
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq21.1-23(chrX:77544283-110500317)x1 copy number loss See cases [RCV000051668] ChrX:77544283..110500317 [GRCh38]
ChrX:76799762..109743545 [GRCh37]
ChrX:76686418..109630201 [NCBI36]
ChrX:Xq21.1-23
pathogenic
GRCh38/hg38 Xq22.1(chrX:101323599-101596196)x1 copy number loss See cases [RCV000051714] ChrX:101323599..101596196 [GRCh38]
ChrX:100465243..100737830 [NCBI36]
ChrX:Xq22.1
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: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 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
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: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 Xq21.1-25(chrX:81261589-126519353)x3 copy number gain See cases [RCV000052438] ChrX:81261589..126519353 [GRCh38]
ChrX:80517088..125653336 [GRCh37]
ChrX:80403744..125481017 [NCBI36]
ChrX:Xq21.1-25
pathogenic
GRCh38/hg38 Xq21.31-22.3(chrX:89372737-106174548)x3 copy number gain See cases [RCV000052440] ChrX:89372737..106174548 [GRCh38]
ChrX:88627736..105418541 [GRCh37]
ChrX:88514392..105305197 [NCBI36]
ChrX:Xq21.31-22.3
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: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: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
NM_004085.4(TIMM8A):c.-6C>T single nucleotide variant not provided [RCV000677076]|not specified [RCV000152015] ChrX:101348670 [GRCh38]
ChrX:100603658 [GRCh37]
ChrX:Xq22.1
benign|likely benign
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_004085.4(TIMM8A):c.39T>G (p.Gly13=) single nucleotide variant not provided [RCV000173325] ChrX:101348626 [GRCh38]
ChrX:100603614 [GRCh37]
ChrX:Xq22.1
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
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)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 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
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 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
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 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
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 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
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 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
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 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
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 Xq22.1-23(chrX:100597687-111651116)x4 copy number gain See cases [RCV000136029] ChrX:100597687..111651116 [GRCh38]
ChrX:99852684..110894344 [GRCh37]
ChrX:99739340..110781000 [NCBI36]
ChrX:Xq22.1-23
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-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 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
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-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 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
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 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
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 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
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 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xq21.32-23(chrX:93591590-112530092)x3 copy number gain See cases [RCV000139204] ChrX:93591590..112530092 [GRCh38]
ChrX:92846589..111773320 [GRCh37]
ChrX:92733245..111659976 [NCBI36]
ChrX:Xq21.32-23
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 Xq21.33-22.3(chrX:95823036-104957737)x1 copy number loss See cases [RCV000139979] ChrX:95823036..104957737 [GRCh38]
ChrX:95078035..104202418 [GRCh37]
ChrX:94964691..104089074 [NCBI36]
ChrX:Xq21.33-22.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
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 Xq21.1-23(chrX:81109470-109442793)x1 copy number loss See cases [RCV000142372] ChrX:81109470..109442793 [GRCh38]
ChrX:80364969..108686022 [GRCh37]
ChrX:80251625..108572678 [NCBI36]
ChrX:Xq21.1-23
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
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: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 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
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 Xq22.1(chrX:100861647-101426591)x2 copy number gain See cases [RCV000143738] ChrX:100861647..101426591 [GRCh38]
ChrX:100116636..100681579 [GRCh37]
ChrX:100003292..100568235 [NCBI36]
ChrX:Xq22.1
uncertain significance
NM_004085.4(TIMM8A):c.-11G>T single nucleotide variant not specified [RCV000152016] ChrX:101348675 [GRCh38]
ChrX:100603663 [GRCh37]
ChrX:Xq22.1
likely benign|not provided
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
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
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
NM_004085.4(TIMM8A):c.100C>T (p.Gln34Ter) single nucleotide variant not provided [RCV000677075] ChrX:101348565 [GRCh38]
ChrX:100603553 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
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-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1 copy number loss Premature ovarian failure [RCV000225336] ChrX:99931059..120328627 [GRCh37]
ChrX:Xq22.1-24
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:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [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:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_004085.4(TIMM8A):c.15C>T (p.Ser5=) single nucleotide variant not provided [RCV000916026]|not specified [RCV000603390] ChrX:101348650 [GRCh38]
ChrX:100603638 [GRCh37]
ChrX:Xq22.1
benign|likely benign
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 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3 copy number gain See cases [RCV000446318] ChrX:95498487..129063677 [GRCh37]
ChrX:Xq21.33-26.1
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 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.1-22.2(chrX:99611312-103506684) copy number gain See cases [RCV000447561] ChrX:99611312..103506684 [GRCh37]
ChrX:Xq22.1-22.2
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 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xq22.1(chrX:100598538-100615055)x1 copy number loss See cases [RCV000446423] ChrX:100598538..100615055 [GRCh37]
ChrX:Xq22.1
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-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-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 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
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-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [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 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq21.31-23(chrX:86776682-114054291)x1 copy number loss See cases [RCV000511514] ChrX:86776682..114054291 [GRCh37]
ChrX:Xq21.31-23
pathogenic|uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286) copy number loss See cases [RCV000510947] ChrX:74560735..116609286 [GRCh37]
ChrX:Xq13.3-24
pathogenic
NM_004085.4(TIMM8A):c.-8G>T single nucleotide variant not specified [RCV000615873] ChrX:101348672 [GRCh38]
ChrX:100603660 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_004085.4(TIMM8A):c.252C>T (p.Thr84=) single nucleotide variant not specified [RCV000614060] ChrX:101346541 [GRCh38]
ChrX:100601529 [GRCh37]
ChrX:Xq22.1
likely benign
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_004085.4(TIMM8A):c.282C>A (p.Ser94Arg) single nucleotide variant not specified [RCV000603847] ChrX:101346511 [GRCh38]
ChrX:100601499 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq22.1(chrX:99742359-100759773)x3 copy number gain not provided [RCV000585467] ChrX:99742359..100759773 [GRCh37]
ChrX:Xq22.1
likely pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
Single allele duplication Autistic disorder of childhood onset [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 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_004085.4(TIMM8A):c.127T>C (p.Cys43Arg) single nucleotide variant Deafness dystonia syndrome [RCV000990914] ChrX:101348538 [GRCh38]
ChrX:100603526 [GRCh37]
ChrX:Xq22.1
likely pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq22.1(chrX:100183898-100809683)x4 copy number gain not provided [RCV000996091] ChrX:100183898..100809683 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
NM_004085.4(TIMM8A):c.90G>A (p.Gln30=) single nucleotide variant not provided [RCV000916541] ChrX:101348575 [GRCh38]
ChrX:100603563 [GRCh37]
ChrX:Xq22.1
benign
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 Xq22.1(chrX:99858358-100772721)x2 copy number gain not provided [RCV000846413] ChrX:99858358..100772721 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
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 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
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_004085.4(TIMM8A):c.133-2A>G single nucleotide variant not provided [RCV001210338] ChrX:101346662 [GRCh38]
ChrX:100601650 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xq22.1(chrX:99910467-100704219)x2 copy number gain not provided [RCV001007327] ChrX:99910467..100704219 [GRCh37]
ChrX:Xq22.1
uncertain significance
NC_000023.11:g.(?_101346475)_(101348757_?)del deletion Deafness dystonia syndrome [RCV001195299] ChrX:100601463..100603745 [GRCh37]
ChrX:Xq22.1
pathogenic
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 copy number loss not provided [RCV001259005] ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
NM_004085.4(TIMM8A):c.133-1G>T single nucleotide variant not provided [RCV001268360] ChrX:101346661 [GRCh38]
ChrX:100601649 [GRCh37]
ChrX:Xq22.1
pathogenic
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 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11817 AgrOrtholog
COSMIC TIMM8A COSMIC
Ensembl Genes ENSG00000126953 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000361993 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000494239 UniProtKB/TrEMBL
  ENSP00000494385 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000372902 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000644112 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000645279 UniProtKB/TrEMBL
Gene3D-CATH 1.10.287.810 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000126953 GTEx
HGNC ID HGNC:11817 ENTREZGENE
Human Proteome Map TIMM8A Human Proteome Map
InterPro Tim10-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tim10-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tim8/13 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1678 UniProtKB/Swiss-Prot
NCBI Gene 1678 ENTREZGENE
OMIM 300356 OMIM
  304700 OMIM
PANTHER PTHR19338 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam zf-Tim10_DDP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36523 PharmGKB
Superfamily-SCOP SSF144122 UniProtKB/Swiss-Prot
UniProt A0A2R8YDA8_HUMAN UniProtKB/TrEMBL
  O60220 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B2R5A6 UniProtKB/Swiss-Prot
  Q6IRW6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-01-24 TIMM8A  translocase of inner mitochondrial membrane 8A    translocase of inner mitochondrial membrane 8 homolog A (yeast)  Symbol and/or name change 5135510 APPROVED
2011-08-16 TIMM8A  translocase of inner mitochondrial membrane 8 homolog A (yeast)  TIMM8A  translocase of inner mitochondrial membrane 8 homolog A (yeast)  Symbol and/or name change 5135510 APPROVED