NSDHL (NAD(P) dependent steroid dehydrogenase-like) - Rat Genome Database

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Gene: NSDHL (NAD(P) dependent steroid dehydrogenase-like) Homo sapiens
Analyze
Symbol: NSDHL
Name: NAD(P) dependent steroid dehydrogenase-like
RGD ID: 1343590
HGNC Page HGNC
Description: Predicted to have oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. Predicted to be involved in cholesterol metabolic process. Localizes to endoplasmic reticulum and lipid droplet. Implicated in CHILD syndrome and CK syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: H105E3; NAD(P) dependent steroid dehydrogenase-like protein transcript; SDR31E1; short chain dehydrogenase/reductase family 31E, member 1; sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating; XAP104
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX152,830,967 - 152,869,729 (+)EnsemblGRCh38hg38GRCh38
GRCh38X152,831,001 - 152,869,729 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X151,999,607 - 152,038,273 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X151,750,167 - 151,788,563 (+)NCBINCBI36hg18NCBI36
Build 34X151,670,078 - 151,708,475NCBI
CeleraX152,333,895 - 152,372,297 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX140,816,165 - 140,839,247 (+)NCBIHuRef
CHM1_1X151,874,102 - 151,912,500 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
22-Hydroxycholesterol  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5-triiodo-L-thyronine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-methylcholanthrene  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
7,12-dimethyltetraphene  (ISO)
acetamide  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP,ISO)
aflatoxin B2  (EXP)
aldehydo-D-glucosamine  (ISO)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-D-glucosamine  (ISO)
beta-naphthoflavone  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
buspirone  (ISO)
butan-1-ol  (EXP)
Butylbenzyl phthalate  (ISO)
carbon nanotube  (ISO)
clobetasol  (ISO)
clofibrate  (ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
difenoconazole  (ISO)
dipentyl phthalate  (ISO)
doxorubicin  (EXP)
erlotinib hydrochloride  (EXP)
ethyl methanesulfonate  (EXP)
fenarimol  (ISO)
fenofibrate  (ISO)
fluoranthene  (ISO)
flusilazole  (ISO)
formaldehyde  (EXP)
fumonisin B1  (ISO)
hydralazine  (EXP)
isotretinoin  (EXP)
ketoconazole  (ISO)
lead diacetate  (ISO)
leflunomide  (EXP)
LY294002  (EXP)
methyl methanesulfonate  (EXP)
miconazole  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
NADP zwitterion  (EXP)
NADP(+)  (EXP)
nefazodone  (ISO)
nimesulide  (ISO)
O-methyleugenol  (EXP)
paracetamol  (EXP,ISO)
perfluorononanoic acid  (EXP)
perfluorooctanoic acid  (EXP,ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
potassium dichromate  (EXP)
pravastatin  (ISO)
progesterone  (EXP)
propiconazole  (ISO)
pyrazinecarboxamide  (ISO)
rotenone  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
simvastatin  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
trimellitic anhydride  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
Yessotoxin  (EXP)
zaragozic acid A  (ISO)
zoledronic acid  (EXP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cardiac septum morphology  (IAGP)
Abnormal cortical bone morphology  (IAGP)
Abnormal digit morphology  (IAGP)
Abnormality of cardiovascular system morphology  (IAGP)
Abnormality of the curvature of the vertebral column  (IAGP)
Abnormality of the nail  (IAGP)
Adrenal hypoplasia  (IAGP)
Aggressive behavior  (IAGP)
Almond-shaped palpebral fissure  (IAGP)
Alopecia  (IAGP)
Aplasia/Hypoplasia involving the central nervous system  (IAGP)
Aplasia/hypoplasia of the extremities  (IAGP)
Arachnodactyly  (IAGP)
Asthenia  (IAGP)
Cleft upper lip  (IAGP)
Congenital hip dislocation  (IAGP)
Congenital ichthyosiform erythroderma  (IAGP)
Delayed speech and language development  (IAGP)
Dental crowding  (IAGP)
Dolichocephaly  (IAGP)
Dysphasia  (IAGP)
Elevated 8(9)-cholestenol  (IAGP)
Elevated 8-dehydrocholesterol  (IAGP)
Epicanthus  (IAGP)
Epiphyseal stippling  (IAGP)
Erythema  (IAGP)
Flexion contracture  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Heterogeneous  (IAGP)
High palate  (IAGP)
Hydronephrosis  (IAGP)
Hyperactivity  (IAGP)
Hyperkeratosis  (IAGP)
Hyperlordosis  (IAGP)
Hypoplastic pelvis  (IAGP)
Hypoplastic scapulae  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Irritability  (IAGP)
Joint hypermobility  (IAGP)
Kyphoscoliosis  (IAGP)
Kyphosis  (IAGP)
Long face  (IAGP)
Long fingers  (IAGP)
Long toe  (IAGP)
Lumbar hyperlordosis  (IAGP)
Malar flattening  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Microretrognathia  (IAGP)
Mild intrauterine growth retardation  (IAGP)
Mitral valve prolapse  (IAGP)
Narrow face  (IAGP)
Pachygyria  (IAGP)
Parakeratosis  (IAGP)
Polymicrogyria  (IAGP)
Posteriorly rotated ears  (IAGP)
Prominent nasal bridge  (IAGP)
Pulmonary hypoplasia  (IAGP)
Renal agenesis  (IAGP)
Renal hypoplasia/aplasia  (IAGP)
Retrognathia  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Short clavicles  (IAGP)
Short ribs  (IAGP)
Short stature  (IAGP)
Single ventricle  (IAGP)
Sleep disturbance  (IAGP)
Slender build  (IAGP)
Stillbirth  (IAGP)
Strabismus  (IAGP)
Tall stature  (IAGP)
Thyroid hypoplasia  (IAGP)
Umbilical hernia  (IAGP)
Upslanted palpebral fissure  (IAGP)
Vertebral hypoplasia  (IAGP)
X-linked dominant inheritance  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:1602151   PMID:8439729   PMID:8828036   PMID:8828037   PMID:10710235   PMID:10854409   PMID:11076863   PMID:11256614   PMID:11907515   PMID:12477932   PMID:12837764   PMID:12966526  
PMID:14506130   PMID:14741744   PMID:15489334   PMID:15489336   PMID:15805545   PMID:16230564   PMID:16381901   PMID:17498944   PMID:18029348   PMID:18660489   PMID:19027726   PMID:19880419  
PMID:19906044   PMID:20403997   PMID:21129721   PMID:21290788   PMID:21498505   PMID:21873635   PMID:22113624   PMID:22658674   PMID:25192599   PMID:25609649   PMID:25900314   PMID:26014843  
PMID:26186194   PMID:26459993   PMID:26638075   PMID:27173435   PMID:27342126   PMID:28298427   PMID:28380382   PMID:28514442   PMID:29180619   PMID:29395067   PMID:29568061   PMID:29955894  
PMID:30021884   PMID:30194290   PMID:30376821   PMID:30442662   PMID:30463901   PMID:30575818   PMID:30948266   PMID:31056421   PMID:31078502   PMID:31091453   PMID:31177093   PMID:31536960  
PMID:32140747   PMID:32296183   PMID:32366230   PMID:32457219   PMID:32694731   PMID:32788342   PMID:32814053   PMID:32877691  


Genomics

Comparative Map Data
NSDHL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX152,830,967 - 152,869,729 (+)EnsemblGRCh38hg38GRCh38
GRCh38X152,831,001 - 152,869,729 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X151,999,607 - 152,038,273 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X151,750,167 - 151,788,563 (+)NCBINCBI36hg18NCBI36
Build 34X151,670,078 - 151,708,475NCBI
CeleraX152,333,895 - 152,372,297 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX140,816,165 - 140,839,247 (+)NCBIHuRef
CHM1_1X151,874,102 - 151,912,500 (+)NCBICHM1_1
Nsdhl
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X71,962,127 - 72,002,134 (+)NCBIGRCm39mm39
GRCm39 EnsemblX71,962,163 - 72,002,120 (+)Ensembl
GRCm38X72,918,521 - 72,958,528 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX72,918,557 - 72,958,514 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X70,163,860 - 70,203,867 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X69,171,241 - 69,211,248 (+)NCBImm8
CeleraX63,853,687 - 63,881,911 (+)NCBICelera
Cytogenetic MapXA7.3NCBI
cM MapX37.29NCBI
Nsdhl
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X150,775,034 - 150,807,161 (+)NCBI
Rnor_6.0 EnsemblX152,933,069 - 152,964,390 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X152,933,118 - 152,964,399 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01148,661,899 - 148,693,982 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X158,923,025 - 158,954,914 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X158,996,457 - 159,028,346 (+)NCBI
Celera1131,739,125 - 131,770,246 (+)NCBICelera
Cytogenetic MapXq37NCBI
Nsdhl
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554988,135,897 - 8,161,775 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554988,135,897 - 8,161,775 (+)NCBIChiLan1.0ChiLan1.0
NSDHL
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X152,324,553 - 152,362,931 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX152,324,553 - 152,362,931 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X142,405,340 - 142,443,723 (+)NCBIMhudiblu_PPA_v0panPan3
NSDHL
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X120,720,118 - 120,754,573 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX120,720,183 - 120,754,143 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX106,088,695 - 106,122,830 (+)NCBI
ROS_Cfam_1.0X122,944,801 - 122,978,966 (+)NCBI
UMICH_Zoey_3.1X119,661,018 - 119,695,117 (+)NCBI
UNSW_CanFamBas_1.0X122,151,713 - 122,185,683 (+)NCBI
UU_Cfam_GSD_1.0X122,026,748 - 122,060,840 (+)NCBI
Nsdhl
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X117,982,486 - 118,009,864 (+)NCBI
SpeTri2.0NW_004936714246,574 - 273,930 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NSDHL
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX123,906,194 - 123,929,117 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X123,906,130 - 123,921,935 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X141,376,781 - 141,391,919 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NSDHL
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X127,342,788 - 127,389,117 (+)NCBI
ChlSab1.1 EnsemblX127,342,850 - 127,390,536 (+)Ensembl
Nsdhl
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248834,039,876 - 4,062,309 (+)NCBI

Position Markers
DXS8061  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X152,021,619 - 152,021,759UniSTSGRCh37
Build 36X151,772,275 - 151,772,415RGDNCBI36
CeleraX152,356,005 - 152,356,149RGD
Cytogenetic MapXq28UniSTS
HuRefX140,822,932 - 140,823,076UniSTS
Marshfield Genetic MapX100.73RGD
Marshfield Genetic MapX100.73UniSTS
Genethon Genetic MapX193.8UniSTS
TNG Radiation Hybrid MapX27636.0UniSTS
deCODE Assembly MapX184.87UniSTS
RH80836  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X152,037,752 - 152,037,874UniSTSGRCh37
Build 36X151,788,408 - 151,788,530RGDNCBI36
CeleraX152,372,142 - 152,372,264RGD
Cytogenetic MapXq28UniSTS
HuRefX140,839,092 - 140,839,214UniSTS
GeneMap99-GB4 RH MapX347.01UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:784
Count of miRNA genes:566
Interacting mature miRNAs:610
Transcripts:ENST00000370274, ENST00000432467, ENST00000440023
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 2048 1895 1622 558 1118 416 3620 1050 2487 358 1417 1521 156 1189 2055 3
Low 390 1093 104 66 832 49 737 1145 1247 61 43 92 19 1 15 733 2 2
Below cutoff 3 1 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000370274   ⟹   ENSP00000359297
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX152,831,063 - 152,869,729 (+)Ensembl
RefSeq Acc Id: ENST00000432467   ⟹   ENSP00000396266
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX152,830,997 - 152,867,647 (+)Ensembl
RefSeq Acc Id: ENST00000440023   ⟹   ENSP00000391854
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX152,830,967 - 152,869,363 (+)Ensembl
RefSeq Acc Id: NM_001129765   ⟹   NP_001123237
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,831,063 - 152,869,729 (+)NCBI
GRCh37X151,999,511 - 152,037,907 (+)ENTREZGENE
HuRefX140,816,165 - 140,839,247 (+)ENTREZGENE
CHM1_1X151,874,102 - 151,912,500 (+)NCBI
Sequence:
RefSeq Acc Id: NM_015922   ⟹   NP_057006
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,831,063 - 152,869,729 (+)NCBI
GRCh37X151,999,511 - 152,037,907 (+)ENTREZGENE
Build 36X151,750,167 - 151,788,563 (+)NCBI Archive
HuRefX140,816,165 - 140,839,247 (+)ENTREZGENE
CHM1_1X151,874,102 - 151,912,500 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531178   ⟹   XP_011529480
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,831,001 - 152,869,363 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029564   ⟹   XP_016885053
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,834,645 - 152,869,363 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001123237   ⟸   NM_001129765
- UniProtKB: Q15738 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_057006   ⟸   NM_015922
- UniProtKB: Q15738 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529480   ⟸   XM_011531178
- Peptide Label: isoform X2
- UniProtKB: Q15738 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016885053   ⟸   XM_017029564
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000359297   ⟸   ENST00000370274
RefSeq Acc Id: ENSP00000391854   ⟸   ENST00000440023
RefSeq Acc Id: ENSP00000396266   ⟸   ENST00000432467
Protein Domains
3Beta_HSD

Promoters
RGD ID:6808572
Promoter ID:HG_KWN:68486
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001129765,   OTTHUMT00000060927,   OTTHUMT00000060928,   OTTHUMT00000061197,   UC004FGR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X151,749,894 - 151,750,394 (-)MPROMDB
RGD ID:13628394
Promoter ID:EPDNEW_H29471
Type:initiation region
Name:NSDHL_2
Description:NAD dependent steroid dehydrogenase-like
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29469  EPDNEW_H29472  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,830,773 - 152,830,833EPDNEW
RGD ID:13628392
Promoter ID:EPDNEW_H29472
Type:initiation region
Name:NSDHL_1
Description:NAD dependent steroid dehydrogenase-like
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29469  EPDNEW_H29471  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,831,063 - 152,831,123EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_015922.3(NSDHL):c.1046A>G (p.Tyr349Cys) single nucleotide variant Child syndrome [RCV000020427] ChrX:152869040 [GRCh38]
ChrX:152037584 [GRCh37]
ChrX:Xq28
pathogenic
NM_015922.3(NSDHL):c.1098dup (p.Arg367fs) duplication CK syndrome [RCV000020428] ChrX:152869089..152869090 [GRCh38]
ChrX:152037633..152037634 [GRCh37]
ChrX:Xq28
pathogenic
NM_015922.3(NSDHL):c.370G>A (p.Gly124Ser) single nucleotide variant Child syndrome [RCV000020429] ChrX:152858872 [GRCh38]
ChrX:152027416 [GRCh37]
ChrX:Xq28
pathogenic
NM_015922.3(NSDHL):c.693_695GAA[1] (p.Lys232del) microsatellite CK syndrome [RCV000020430] ChrX:152867577..152867579 [GRCh38]
ChrX:152036121..152036123 [GRCh37]
ChrX:Xq28
pathogenic
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_015922.3(NSDHL):c.314C>T (p.Ala105Val) single nucleotide variant Child syndrome [RCV000012179] ChrX:152858816 [GRCh38]
ChrX:152027360 [GRCh37]
ChrX:Xq28
pathogenic
NM_015922.3(NSDHL):c.613G>A (p.Gly205Ser) single nucleotide variant Child syndrome [RCV000012180] ChrX:152865888 [GRCh38]
ChrX:152034432 [GRCh37]
ChrX:Xq28
pathogenic
NM_015922.3(NSDHL):c.628C>T (p.Gln210Ter) single nucleotide variant Child syndrome [RCV000012181] ChrX:152865903 [GRCh38]
ChrX:152034447 [GRCh37]
ChrX:Xq28
pathogenic
NM_015922.3(NSDHL):c.262C>T (p.Arg88Ter) single nucleotide variant Child syndrome [RCV000012182] ChrX:152850418 [GRCh38]
ChrX:152018962 [GRCh37]
ChrX:Xq28
pathogenic
NM_015922.3(NSDHL):c.544G>C (p.Ala182Pro) single nucleotide variant Child syndrome [RCV000012183] ChrX:152865819 [GRCh38]
ChrX:152034363 [GRCh37]
ChrX:Xq28
pathogenic
NM_015922.3(NSDHL):c.451G>T (p.Glu151Ter) single nucleotide variant Child syndrome [RCV000012184] ChrX:152862632 [GRCh38]
ChrX:152031176 [GRCh37]
ChrX:Xq28
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 Xq28(chrX:150036146-156022206)x3 copy number gain See cases [RCV000050946] ChrX:150036146..156022206 [GRCh38]
ChrX:149298619..155251871 [GRCh37]
ChrX:148955035..154905065 [NCBI36]
ChrX:Xq28
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 Xq28(chrX:149989929-156022206)x3 copy number gain See cases [RCV000050657] ChrX:149989929..156022206 [GRCh38]
ChrX:149158160..155251871 [GRCh37]
ChrX:148908818..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX: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 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] ChrX:145879711..156022206 [GRCh38]
ChrX:146715565..155251871 [GRCh37]
ChrX:144768921..154905065 [NCBI36]
ChrX:Xq27.3-28
pathogenic
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 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
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 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 copy number loss See cases [RCV000051732] ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28
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 Xq27.1-28(chrX:140445228-155998166)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] ChrX:140445228..155998166 [GRCh38]
ChrX:139527393..155227831 [GRCh37]
ChrX:139355059..154881025 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 copy number gain See cases [RCV000052471] ChrX:140226495..155687381 [GRCh38]
ChrX:139308651..154917042 [GRCh37]
ChrX:139136317..154570236 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2 copy number gain See cases [RCV000052474] ChrX:140445228..154604471 [GRCh38]
ChrX:139527393..153832724 [GRCh37]
ChrX:139355059..153485918 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 copy number gain See cases [RCV000052475] ChrX:141160282..155699618 [GRCh38]
ChrX:140254480..154929279 [GRCh37]
ChrX:140082146..154582473 [NCBI36]
ChrX:Xq27.1-28
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
GRCh38/hg38 Xq28(chrX:152789896-153047281)x2 copy number gain See cases [RCV000133600] ChrX:152789896..153047281 [GRCh38]
ChrX:151897029..152215637 [GRCh37]
ChrX:151647685..151966293 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq28(chrX:152795555-152912145)x3 copy number gain See cases [RCV000054319] ChrX:152795555..152912145 [GRCh38]
ChrX:151714755..151831345 [NCBI36]
ChrX:Xq28
uncertain significance
NM_015922.3(NSDHL):c.65C>T (p.Thr22Ile) single nucleotide variant not provided [RCV000487835] ChrX:152846389 [GRCh38]
ChrX:152014933 [GRCh37]
ChrX:Xq28
conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1 copy number loss See cases [RCV000133818] ChrX:139333024..155978689 [GRCh38]
ChrX:138415183..155208354 [GRCh37]
ChrX:138242849..154861548 [NCBI36]
ChrX:Xq27.1-28
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)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:152789896-153047281)x3 copy number gain See cases [RCV000054318] ChrX:152789896..153047281 [GRCh38]
ChrX:151897029..152215637 [GRCh37]
ChrX:151647685..151966293 [NCBI36]
ChrX:Xq28
uncertain significance
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
NM_015922.3(NSDHL):c.1054C>T (p.Leu352=) single nucleotide variant not provided [RCV000871091]|not specified [RCV000146959] ChrX:152869048 [GRCh38]
ChrX:152037592 [GRCh37]
ChrX:Xq28
benign
NM_015922.3(NSDHL):c.1114del (p.Val372fs) deletion Child syndrome [RCV000146960] ChrX:152869106 [GRCh38]
ChrX:152037650 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_015922.3(NSDHL):c.132T>G (p.Gly44=) single nucleotide variant not specified [RCV000146961] ChrX:152850288 [GRCh38]
ChrX:152018832 [GRCh37]
ChrX:Xq28
benign
NM_015922.3(NSDHL):c.25A>G (p.Met9Val) single nucleotide variant not provided [RCV000513792]|not specified [RCV000146962] ChrX:152846349 [GRCh38]
ChrX:152014893 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_015922.3(NSDHL):c.595C>T (p.Arg199Cys) single nucleotide variant Child syndrome [RCV000146963]|not provided [RCV000179494] ChrX:152865870 [GRCh38]
ChrX:152034414 [GRCh37]
ChrX:Xq28
likely pathogenic|uncertain significance
NM_015922.3(NSDHL):c.727G>A (p.Val243Met) single nucleotide variant Child syndrome [RCV000146964]|not provided [RCV000412977] ChrX:152867611 [GRCh38]
ChrX:152036155 [GRCh37]
ChrX:Xq28
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_015922.3(NSDHL):c.757C>T (p.Gln253Ter) single nucleotide variant Child syndrome [RCV000146965] ChrX:152867641 [GRCh38]
ChrX:152036185 [GRCh37]
ChrX:Xq28
pathogenic
NM_015922.3(NSDHL):c.790-5G>A single nucleotide variant not provided [RCV000826275]|not specified [RCV000146966] ChrX:152868779 [GRCh38]
ChrX:152037323 [GRCh37]
ChrX:Xq28
likely benign
NM_015922.3(NSDHL):c.904del (p.Tyr302fs) deletion Child syndrome [RCV000146967] ChrX:152868898 [GRCh38]
ChrX:152037442 [GRCh37]
ChrX:Xq28
pathogenic
NM_015922.3(NSDHL):c.906C>A (p.Tyr302Ter) single nucleotide variant Child syndrome [RCV000146968] ChrX:152868900 [GRCh38]
ChrX:152037444 [GRCh37]
ChrX:Xq28
pathogenic
NM_015922.3(NSDHL):c.942C>T (p.Ile314=) single nucleotide variant not provided [RCV000870993]|not specified [RCV000146969] ChrX:152868936 [GRCh38]
ChrX:152037480 [GRCh37]
ChrX:Xq28
benign|likely benign
GRCh38/hg38 Xq27.3-28(chrX:144627217-155434735)x3 copy number gain See cases [RCV000133725] ChrX:144627217..155434735 [GRCh38]
ChrX:146715565..154664396 [GRCh37]
ChrX:143516380..154317590 [NCBI36]
ChrX:Xq27.3-28
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 Xq28(chrX:152813612-153047281)x3 copy number gain See cases [RCV000134157] ChrX:152813612..153047281 [GRCh38]
ChrX:151982144..152215637 [GRCh37]
ChrX:151732800..151966293 [NCBI36]
ChrX:Xq28
uncertain significance
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 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
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: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 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 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
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 Xq27.1-28(chrX:140783390-155611114)x2 copy number gain See cases [RCV000135881] ChrX:140783390..155611114 [GRCh38]
ChrX:139865555..154785891 [GRCh37]
ChrX:139693221..154493969 [NCBI36]
ChrX:Xq27.1-28
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 Xq27.2-28(chrX:141650284-156022206)x1 copy number loss See cases [RCV000136912] ChrX:141650284..156022206 [GRCh38]
ChrX:140738414..155251871 [GRCh37]
ChrX:140566080..154905065 [NCBI36]
ChrX:Xq27.2-28
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: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 Xq28(chrX:151750863-155522304)x1 copy number loss See cases [RCV000136718] ChrX:151750863..155522304 [GRCh38]
ChrX:150919335..154751965 [GRCh37]
ChrX:150669991..154405159 [NCBI36]
ChrX:Xq28
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 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
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 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 Xq26.3-28(chrX:137118983-156003242)x1 copy number loss See cases [RCV000137257] ChrX:137118983..156003242 [GRCh38]
ChrX:136201142..155232907 [GRCh37]
ChrX:136028808..154886101 [NCBI36]
ChrX:Xq26.3-28
pathogenic|uncertain significance
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
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 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1 copy number loss See cases [RCV000138679] ChrX:143553831..156003229 [GRCh38]
ChrX:142641674..155232894 [GRCh37]
ChrX:142469340..154886088 [NCBI36]
ChrX:Xq27.3-28
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 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
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 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 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 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 Xq27.1-28(chrX:139530928-156003229)x1 copy number loss See cases [RCV000139724] ChrX:139530928..156003229 [GRCh38]
ChrX:138613087..155232894 [GRCh37]
ChrX:138440753..154886088 [NCBI36]
ChrX:Xq27.1-28
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 Xq28(chrX:152856507-152873129)x3 copy number gain See cases [RCV000141680] ChrX:152856507..152873129 [GRCh38]
ChrX:152025051..152041673 [GRCh37]
ChrX:151775707..151792329 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
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 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
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 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:148951460-155434653)x2 copy number gain See cases [RCV000143002] ChrX:148951460..155434653 [GRCh38]
ChrX:148956425..154664314 [GRCh37]
ChrX:147840690..154317508 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
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 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 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: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 Xq28(chrX:151903225-152226301)x3 copy number gain See cases [RCV000240253] ChrX:151903225..152226301 [GRCh37]
ChrX:Xq28
uncertain significance
NM_015922.3(NSDHL):c.267+7G>A single nucleotide variant not provided [RCV000872017]|not specified [RCV000193453] ChrX:152850430 [GRCh38]
ChrX:152018974 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_015922.3(NSDHL):c.750G>A (p.Ala250=) single nucleotide variant not provided [RCV000882248]|not specified [RCV000193758] ChrX:152867634 [GRCh38]
ChrX:152036178 [GRCh37]
ChrX:Xq28
benign|uncertain significance
NM_015922.3(NSDHL):c.356G>A (p.Arg119Lys) single nucleotide variant not provided [RCV000871529]|not specified [RCV000194676] ChrX:152858858 [GRCh38]
ChrX:152027402 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_015922.3(NSDHL):c.773C>T (p.Ser258Leu) single nucleotide variant not provided [RCV000179949] ChrX:152867657 [GRCh38]
ChrX:152036201 [GRCh37]
ChrX:Xq28
uncertain significance
NM_015922.3(NSDHL):c.842G>A (p.Arg281His) single nucleotide variant not provided [RCV000724826]|not specified [RCV000180337] ChrX:152868836 [GRCh38]
ChrX:152037380 [GRCh37]
ChrX:Xq28
likely benign|conflicting interpretations of pathogenicity|uncertain significance
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 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_015922.3(NSDHL):c.658A>G (p.Arg220Gly) single nucleotide variant not provided [RCV001061137]|not specified [RCV000192895] ChrX:152865933 [GRCh38]
ChrX:152034477 [GRCh37]
ChrX:Xq28
uncertain significance
NM_015922.3(NSDHL):c.1038_1041dup (p.Gly348fs) duplication Child syndrome [RCV000192617] ChrX:152869031..152869032 [GRCh38]
ChrX:152037575..152037576 [GRCh37]
ChrX:Xq28
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 Xp22.2-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: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 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 Xq27.3-28(chrX:142174780-155250222)x2 copy number gain See cases [RCV000240530] ChrX:142174780..155250222 [GRCh37]
ChrX:Xq27.3-28
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 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
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 Xp22.33-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
NM_015922.3(NSDHL):c.901T>C (p.Tyr301His) single nucleotide variant not provided [RCV000723263] ChrX:152868895 [GRCh38]
ChrX:152037439 [GRCh37]
ChrX:Xq28
uncertain significance
NM_015922.3(NSDHL):c.1054C>G (p.Leu352Val) single nucleotide variant CK syndrome [RCV001196214]|Hearing impairment [RCV000415441] ChrX:152869048 [GRCh38]
ChrX:152037592 [GRCh37]
ChrX:Xq28
uncertain significance
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 Xq28(chrX:151869764-152329158)x3 copy number gain See cases [RCV000449086] ChrX:151869764..152329158 [GRCh37]
ChrX:Xq28
uncertain significance
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 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:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [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 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:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:151996219-152227964)x2 copy number gain See cases [RCV000446057] ChrX:151996219..152227964 [GRCh37]
ChrX:Xq28
uncertain significance
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 Xq28(chrX:150253008-155233731)x1 copy number loss See cases [RCV000446761] ChrX:150253008..155233731 [GRCh37]
ChrX:Xq28
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: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 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
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 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1 copy number loss See cases [RCV000448865] ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xq28(chrX:151201777-154741703)x2 copy number gain See cases [RCV000510478] ChrX:151201777..154741703 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:151903225-152027245)x3 copy number gain not provided [RCV000509358] ChrX:151903225..152027245 [GRCh37]
ChrX:Xq28
not provided
NM_015922.3(NSDHL):c.565C>T (p.Pro189Ser) single nucleotide variant not specified [RCV000504268] ChrX:152865840 [GRCh38]
ChrX:152034384 [GRCh37]
ChrX:Xq28
uncertain significance
NM_015922.3(NSDHL):c.1020C>T (p.Cys340=) single nucleotide variant not provided [RCV000971994]|not specified [RCV000502473] ChrX:152869014 [GRCh38]
ChrX:152037558 [GRCh37]
ChrX:Xq28
likely benign
NM_015922.3(NSDHL):c.904T>C (p.Tyr302His) single nucleotide variant not specified [RCV000500888] ChrX:152868898 [GRCh38]
ChrX:152037442 [GRCh37]
ChrX:Xq28
uncertain significance
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 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
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 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:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1 copy number loss See cases [RCV000511228] ChrX:146232592..155233731 [GRCh37]
ChrX:Xq27.3-28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28
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 Xq28(chrX:152033631-152329158)x2 copy number gain See cases [RCV000511168] ChrX:152033631..152329158 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:151963528-155233731)x1 copy number loss See cases [RCV000510866] ChrX:151963528..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:151311551-155233731)x1 copy number loss See cases [RCV000510920] ChrX:151311551..155233731 [GRCh37]
ChrX:Xq28
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
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
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 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_015922.3(NSDHL):c.790-5G>T single nucleotide variant Seizures [RCV000626933] ChrX:152868779 [GRCh38]
ChrX:152037323 [GRCh37]
ChrX:Xq28
uncertain significance
Single allele duplication not provided [RCV000677984] ChrX:151903225..152087646 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 copy number loss not provided [RCV000684397] ChrX:138331745..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 copy number loss not provided [RCV000684401] ChrX:139504488..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 copy number gain not provided [RCV000684402] ChrX:140388077..155233731 [GRCh37]
ChrX:Xq27.2-28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
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 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
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 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 copy number loss not provided [RCV000753810] ChrX:138750575..155246749 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:151968924-152025052)x3 copy number gain not provided [RCV000753914] ChrX:151968924..152025052 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq28(chrX:152012351-152058423)x3 copy number gain not provided [RCV000753915] ChrX:152012351..152058423 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1 copy number loss not provided [RCV000753815] ChrX:139504958..155254881 [GRCh37]
ChrX:Xq27.1-28
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
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
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
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_015922.3(NSDHL):c.1108C>T (p.Arg370Trp) single nucleotide variant not provided [RCV000762677] ChrX:152869102 [GRCh38]
ChrX:152037646 [GRCh37]
ChrX:Xq28
uncertain significance
NM_015922.3(NSDHL):c.*129C>T single nucleotide variant Child syndrome [RCV000990968] ChrX:152869245 [GRCh38]
ChrX:152037789 [GRCh37]
ChrX:Xq28
benign
NM_015922.3(NSDHL):c.306C>T (p.Phe102=) single nucleotide variant not provided [RCV000878040] ChrX:152858808 [GRCh38]
ChrX:152027352 [GRCh37]
ChrX:Xq28
benign
NM_015922.3(NSDHL):c.351T>C (p.Phe117=) single nucleotide variant not provided [RCV000865343] ChrX:152858853 [GRCh38]
ChrX:152027397 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_015922.3(NSDHL):c.627G>A (p.Pro209=) single nucleotide variant not provided [RCV000886668] ChrX:152865902 [GRCh38]
ChrX:152034446 [GRCh37]
ChrX:Xq28
likely benign
NM_015922.3(NSDHL):c.991C>T (p.Leu331=) single nucleotide variant not provided [RCV000941795] ChrX:152868985 [GRCh38]
ChrX:152037529 [GRCh37]
ChrX:Xq28
likely benign
NM_015922.3(NSDHL):c.841C>T (p.Arg281Cys) single nucleotide variant not provided [RCV000874423] ChrX:152868835 [GRCh38]
ChrX:152037379 [GRCh37]
ChrX:Xq28
likely benign
NM_015922.3(NSDHL):c.291T>C (p.Gly97=) single nucleotide variant not provided [RCV000896762] ChrX:152858793 [GRCh38]
ChrX:152027337 [GRCh37]
ChrX:Xq28
likely 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 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NC_000023.11:g.152868779G>A single nucleotide variant not provided [RCV000826275] ChrX:152037323 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq28(chrX:151951356-152081076)x2 copy number gain not provided [RCV000847717] ChrX:151951356..152081076 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:151945709-152228928)x3 copy number gain not provided [RCV000848157] ChrX:151945709..152228928 [GRCh37]
ChrX:Xq28
uncertain significance
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
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 Xq28(chrX:151908474-152108084)x3 copy number gain not provided [RCV000847602] ChrX:151908474..152108084 [GRCh37]
ChrX:Xq28
uncertain significance
NM_015922.3(NSDHL):c.130G>A (p.Gly44Ser) single nucleotide variant not provided [RCV001231248] ChrX:152850286 [GRCh38]
ChrX:152018830 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
NM_015922.3(NSDHL):c.317C>T (p.Ser106Leu) single nucleotide variant Child syndrome [RCV000985094] ChrX:152858819 [GRCh38]
ChrX:152027363 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_015922.3(NSDHL):c.678C>T (p.Phe226=) single nucleotide variant not provided [RCV000873124] ChrX:152865953 [GRCh38]
ChrX:152034497 [GRCh37]
ChrX:Xq28
benign
NM_015922.3(NSDHL):c.987C>T (p.Val329=) single nucleotide variant not provided [RCV000951792] ChrX:152868981 [GRCh38]
ChrX:152037525 [GRCh37]
ChrX:Xq28
benign
NM_015922.3(NSDHL):c.109-4del deletion not provided [RCV000981000] ChrX:152850261 [GRCh38]
ChrX:152018805 [GRCh37]
ChrX:Xq28
likely benign
NM_015922.3(NSDHL):c.283C>G (p.Leu95Val) single nucleotide variant not provided [RCV000952551] ChrX:152858785 [GRCh38]
ChrX:152027329 [GRCh37]
ChrX:Xq28
benign
NM_015922.3(NSDHL):c.893G>T (p.Trp298Leu) single nucleotide variant not provided [RCV000876487] ChrX:152868887 [GRCh38]
ChrX:152037431 [GRCh37]
ChrX:Xq28
likely benign
NM_015922.3(NSDHL):c.901T>A (p.Tyr301Asn) single nucleotide variant not specified [RCV001193304] ChrX:152868895 [GRCh38]
ChrX:152037439 [GRCh37]
ChrX:Xq28
uncertain significance
NM_015922.3(NSDHL):c.834C>T (p.Phe278=) single nucleotide variant not provided [RCV000891100] ChrX:152868828 [GRCh38]
ChrX:152037372 [GRCh37]
ChrX:Xq28
benign
NM_015922.3(NSDHL):c.1109G>A (p.Arg370Gln) single nucleotide variant not provided [RCV000891132] ChrX:152869103 [GRCh38]
ChrX:152037647 [GRCh37]
ChrX:Xq28
benign
NM_015922.3(NSDHL):c.816C>A (p.Pro272=) single nucleotide variant not provided [RCV000912724] ChrX:152868810 [GRCh38]
ChrX:152037354 [GRCh37]
ChrX:Xq28
likely benign|conflicting interpretations of pathogenicity
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 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_015922.3(NSDHL):c.1118A>G (p.Lys373Arg) single nucleotide variant Intellectual disability [RCV001256059] ChrX:152869112 [GRCh38]
ChrX:152037656 [GRCh37]
ChrX:Xq28
uncertain significance
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_015922.3(NSDHL):c.208C>T (p.Gln70Ter) single nucleotide variant not provided [RCV001311410] ChrX:152850364 [GRCh38]
ChrX:152018908 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:151970736-152091035)x3 copy number gain not provided [RCV001260064] ChrX:151970736..152091035 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_015922.3(NSDHL):c.937G>A (p.Val313Met) single nucleotide variant not provided [RCV001317427] ChrX:152868931 [GRCh38]
ChrX:152037475 [GRCh37]
ChrX:Xq28
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13398 AgrOrtholog
COSMIC NSDHL COSMIC
Ensembl Genes ENSG00000147383 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000359297 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000391854 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000396266 UniProtKB/TrEMBL
Ensembl Transcript ENST00000370274 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000432467 UniProtKB/TrEMBL
  ENST00000440023 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000147383 GTEx
HGNC ID HGNC:13398 ENTREZGENE
Human Proteome Map NSDHL Human Proteome Map
InterPro 3Beta_OHSteriod_DH/Estase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD(P)-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:50814 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 50814 ENTREZGENE
OMIM 300275 OMIM
  300831 OMIM
  308050 OMIM
Pfam 3Beta_HSD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134959020 PharmGKB
Superfamily-SCOP SSF51735 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A384NPZ7_HUMAN UniProtKB/TrEMBL
  C9JDR0_HUMAN UniProtKB/TrEMBL
  NSDHL_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary D3DWT6 UniProtKB/Swiss-Prot
  O00344 UniProtKB/Swiss-Prot