SOX3 (SRY-box transcription factor 3) - Rat Genome Database

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Gene: SOX3 (SRY-box transcription factor 3) Homo sapiens
Analyze
Symbol: SOX3
Name: SRY-box transcription factor 3
RGD ID: 1347884
HGNC Page HGNC
Description: Exhibits sequence-specific double-stranded DNA binding activity. Involved in sex determination. Localizes to nucleoplasm. Implicated in X-linked panhypopituitarism.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: GHDX; MRGH; panhypopituitarism; PHP; PHPX; SOXB; SRY (sex determining region Y)-box 3; SRY box 3; SRY-box 3; transcription factor SOX-3
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 EnsemblX140,502,985 - 140,505,116 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX140,502,985 - 140,505,069 (-)EnsemblGRCh38hg38GRCh38
GRCh38X140,502,985 - 140,505,069 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X139,585,150 - 139,587,234 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X139,412,818 - 139,414,891 (-)NCBINCBI36hg18NCBI36
Build 34X139,310,671 - 139,312,745NCBI
CeleraX139,957,265 - 139,959,338 (-)NCBI
Cytogenetic MapXq27.1NCBI
HuRefX128,852,437 - 128,854,510 (-)NCBIHuRef
CHM1_1X139,496,277 - 139,498,350 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal myelination  (IAGP)
Abnormal prolactin level  (IAGP)
Abnormal saccadic eye movements  (IAGP)
Abnormal sternum morphology  (IAGP)
Abnormality of brain morphology  (IAGP)
Abnormality of cardiovascular system morphology  (IAGP)
Abnormality of secondary sexual hair  (IAGP)
Abnormality of the curvature of the vertebral column  (IAGP)
Abnormality of the tongue  (IAGP)
Absence of secondary sex characteristics  (IAGP)
Acute myeloid leukemia  (IAGP)
Agenesis of corpus callosum  (IAGP)
Ambiguous genitalia  (IAGP)
Amenorrhea  (IAGP)
Anosmia  (IAGP)
Anterior pituitary hypoplasia  (IAGP)
Aplasia/Hypoplasia of the breasts  (IAGP)
Aplasia/Hypoplasia of the cerebellum  (IAGP)
Autism  (IAGP)
Bilateral cleft lip  (IAGP)
Bilateral cleft lip and palate  (IAGP)
Bilateral cleft palate  (IAGP)
Cleft palate  (IAGP)
Cognitive impairment  (IAGP)
Constipation  (IAGP)
Cryptorchidism  (IAGP)
Decreased circulating ACTH level  (IAGP)
Decreased response to growth hormone stimuation test  (IAGP)
Decreased serum insulin-like growth factor 1  (IAGP)
Decreased testicular size  (IAGP)
Delayed puberty  (IAGP)
Delayed skeletal maturation  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal ridge  (IAGP)
Diabetes insipidus  (IAGP)
Diminished mental health  (IAGP)
Dry skin  (IAGP)
Ectopic anterior pituitary gland  (IAGP)
Ectopic posterior pituitary  (IAGP)
Esophageal atresia  (IAGP)
Fatigue  (IAGP)
Gaze-evoked horizontal nystagmus  (IAGP)
Global developmental delay  (IAGP)
Hemiplegia/hemiparesis  (IAGP)
Hemivertebrae  (IAGP)
Heterotropia  (IAGP)
Hypoglycemia  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypohidrosis  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypotension  (IAGP)
Hypothyroidism  (IAGP)
Infertility  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Male hypogonadism  (IAGP)
Maternal diabetes  (IAGP)
Mild global developmental delay  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Oculomotor apraxia  (IAGP)
Osteopenia  (IAGP)
Osteoporosis of vertebrae  (IAGP)
Pancytopenia  (IAGP)
Panhypopituitarism  (IAGP)
Pectus excavatum  (IAGP)
Pituitary dwarfism  (IAGP)
Pituitary hypothyroidism  (IAGP)
Polycystic ovaries  (IAGP)
Polydipsia  (IAGP)
Premature ovarian insufficiency  (IAGP)
Pulmonic stenosis  (IAGP)
Relative macrocephaly  (IAGP)
Renal agenesis  (IAGP)
Rib fusion  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Septo-optic dysplasia  (IAGP)
Severely reduced visual acuity  (IAGP)
Short stature  (IAGP)
Sleep disturbance  (IAGP)
Small posterior fossa  (IAGP)
Strabismus  (IAGP)
Tracheoesophageal fistula  (IAGP)
Unilateral renal agenesis  (IAGP)
Visual impairment  (IAGP)
Webbed neck  (IAGP)
X-linked inheritance  (IAGP)
References

Additional References at PubMed
PMID:1614875   PMID:8111369   PMID:8625802   PMID:9106538   PMID:10729834   PMID:11071752   PMID:12194848   PMID:12477932   PMID:12710953   PMID:14585968   PMID:14714741   PMID:15292361  
PMID:15342697   PMID:15489334   PMID:15772651   PMID:15788563   PMID:15800844   PMID:17005281   PMID:17127446   PMID:17587179   PMID:17627381   PMID:17910945   PMID:17994562   PMID:19274049  
PMID:19799567   PMID:19902333   PMID:20534763   PMID:21183788   PMID:21636067   PMID:21873635   PMID:22293114   PMID:23199197   PMID:23211052   PMID:23238694   PMID:23624391   PMID:23884650  
PMID:24257117   PMID:24346842   PMID:24737742   PMID:25140394   PMID:25351776   PMID:25791725   PMID:26352083   PMID:27251670   PMID:27477789   PMID:28205554   PMID:28335789   PMID:28473536  
PMID:28618953   PMID:28886103   PMID:29175558   PMID:29484385   PMID:30125608   PMID:30209685   PMID:30442713   PMID:30915751   PMID:31299102   PMID:31678974   PMID:32296183  


Genomics

Comparative Map Data
SOX3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX140,502,985 - 140,505,116 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX140,502,985 - 140,505,069 (-)EnsemblGRCh38hg38GRCh38
GRCh38X140,502,985 - 140,505,069 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X139,585,150 - 139,587,234 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X139,412,818 - 139,414,891 (-)NCBINCBI36hg18NCBI36
Build 34X139,310,671 - 139,312,745NCBI
CeleraX139,957,265 - 139,959,338 (-)NCBI
Cytogenetic MapXq27.1NCBI
HuRefX128,852,437 - 128,854,510 (-)NCBIHuRef
CHM1_1X139,496,277 - 139,498,350 (-)NCBICHM1_1
Sox3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X59,934,972 - 59,937,036 (-)NCBIGRCm39mm39
GRCm39 EnsemblX59,934,972 - 59,937,036 (-)Ensembl
GRCm38X60,891,366 - 60,893,430 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX60,891,366 - 60,893,430 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X58,144,541 - 58,146,605 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X43,982,954 - 43,989,787 (-)NCBImm8
MGSCv36X57,152,743 - 57,153,870 (-)NCBImm8
CeleraX47,327,987 - 47,330,119 (-)NCBICelera
Cytogenetic MapXA6NCBI
cM MapX33.66NCBI
Sox3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X139,308,608 - 139,310,734 (-)NCBI
Rnor_6.0 EnsemblX144,035,883 - 144,037,294 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X144,035,162 - 144,037,364 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X144,060,911 - 144,062,696 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X146,510,409 - 146,511,936 (-)NCBIRGSC3.4rn4RGSC3.4
CeleraX135,369,404 - 135,371,527 (-)NCBICelera
Cytogenetic MapXq36NCBI
Sox3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554894,817,753 - 4,819,131 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554894,817,753 - 4,819,858 (+)NCBIChiLan1.0ChiLan1.0
SOX3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Mhudiblu_PPA_v0X129,654,296 - 129,656,446 (-)NCBIMhudiblu_PPA_v0panPan3
SOX3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X110,361,354 - 110,363,458 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX110,362,124 - 110,363,458 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX96,180,957 - 96,183,063 (-)NCBI
ROS_Cfam_1.0X112,345,866 - 112,347,975 (-)NCBI
UMICH_Zoey_3.1X109,479,743 - 109,481,849 (-)NCBI
UNSW_CanFamBas_1.0X111,665,269 - 111,667,378 (-)NCBI
UU_Cfam_GSD_1.0X111,344,119 - 111,346,231 (-)NCBI
Sox3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X108,393,513 - 108,401,350 (-)NCBI
SpeTri2.0NW_0049365137,218,583 - 7,221,085 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SOX3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX115,019,232 - 115,020,578 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X115,017,704 - 115,020,601 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X131,290,259 - 131,292,684 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SOX3
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X115,608,059 - 115,610,248 (-)NCBI
ChlSab1.1 EnsemblX115,608,810 - 115,610,150 (-)Ensembl
Sox3
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248086,167,512 - 6,169,603 (+)NCBI

Position Markers
DXS1187  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X131,033,197 - 131,033,324UniSTSGRCh37
Build 36X130,860,878 - 130,861,005RGDNCBI36
CeleraX131,419,602 - 131,419,729RGD
Cytogenetic MapXq27.1UniSTS
Marshfield Genetic MapX85.55UniSTS
Marshfield Genetic MapX85.55RGD
deCODE Assembly MapX134.54UniSTS
Stanford-G3 RH MapX3871.0UniSTS
NCBI RH MapX671.9UniSTS
RH80867  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X139,585,639 - 139,585,871UniSTSGRCh37
Build 36X139,413,305 - 139,413,537RGDNCBI36
CeleraX139,957,752 - 139,957,984RGD
Cytogenetic MapXq27.1UniSTS
HuRefX128,852,924 - 128,853,156UniSTS
GeneMap99-GB4 RH MapX324.88UniSTS
DXS737  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X127,458,389 - 127,458,555UniSTSGRCh37
Build 36X127,286,070 - 127,286,236RGDNCBI36
CeleraX127,841,859 - 127,842,011RGD
Cytogenetic MapXq27.1UniSTS
HuRefX116,863,160 - 116,863,326UniSTS
G42697  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X139,585,187 - 139,585,582UniSTSGRCh37
Build 36X139,412,853 - 139,413,248RGDNCBI36
CeleraX139,957,300 - 139,957,695RGD
Cytogenetic MapXq27.1UniSTS
HuRefX128,852,472 - 128,852,867UniSTS
PMC24149P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X139,587,197 - 139,587,336UniSTSGRCh37
Build 36X139,414,863 - 139,415,002RGDNCBI36
CeleraX139,959,310 - 139,959,449RGD
Cytogenetic MapXq27.1UniSTS
HuRefX128,854,482 - 128,854,621UniSTS
SOX3_2438  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X139,584,995 - 139,585,750UniSTSGRCh37
Build 36X139,412,661 - 139,413,416RGDNCBI36
CeleraX139,957,108 - 139,957,863RGD
HuRefX128,852,280 - 128,853,035UniSTS
Sox3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X139,586,571 - 139,586,631UniSTSGRCh37
CeleraX139,958,684 - 139,958,744UniSTS
HuRefX128,853,856 - 128,853,916UniSTS
UniSTS:481771  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X139,585,642 - 139,587,225UniSTSGRCh37
CeleraX139,957,755 - 139,959,338UniSTS
HuRefX128,852,927 - 128,854,510UniSTS
UniSTS:483758  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X139,585,851 - 139,587,281UniSTSGRCh37
CeleraX139,957,964 - 139,959,394UniSTS
HuRefX128,853,136 - 128,854,566UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:604
Count of miRNA genes:506
Interacting mature miRNAs:536
Transcripts:ENST00000370536
Prediction methods:Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

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

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


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
High
Medium 10 1 5 1 170 2 50 1 24 11
Low 1 14 488 2 1 2 344 92 2738 7 437 198 2 1 332
Below cutoff 627 1210 705 54 189 29 2019 926 859 88 395 601 26 331 1598

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000370536   ⟹   ENSP00000359567
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX140,502,985 - 140,505,116 (-)Ensembl
RefSeq Acc Id: NM_005634   ⟹   NP_005625
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X140,502,985 - 140,505,069 (-)NCBI
GRCh37X139,585,152 - 139,587,225 (-)ENTREZGENE
Build 36X139,412,818 - 139,414,891 (-)NCBI Archive
HuRefX128,852,437 - 128,854,510 (-)ENTREZGENE
CHM1_1X139,496,277 - 139,498,350 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005625   ⟸   NM_005634
- UniProtKB: P41225 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000359567   ⟸   ENST00000370536


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
SOX3, 33-BP DUP, NT711-743, ALANINE TRACT EXPANSION duplication Mental retardation, X-linked, with isolated growth hormone deficiency [RCV000010543] ChrX:Xq26.3 pathogenic
SOX3, DUP duplication Panhypopituitarism, X-linked [RCV000010544] ChrX:Xq26.3 pathogenic
SOX3, 21-BP DUP, NT720, ALANINE TRACT EXPANSION duplication Panhypopituitarism, X-linked [RCV000010545] ChrX:Xq26.3 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)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 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 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 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 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 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 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 Xq27.1-28(chrX:139230333-150628474)x1 copy number loss See cases [RCV000051733] ChrX:139230333..150628474 [GRCh38]
ChrX:138312495..149782550 [GRCh37]
ChrX:138140161..149547605 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1(chrX:139333024-140959375)x0 copy number loss See cases [RCV000051734] ChrX:139333024..140959375 [GRCh38]
ChrX:138415183..139986362 [GRCh37]
ChrX:138242849..139869206 [NCBI36]
ChrX:Xq27.1
pathogenic
GRCh38/hg38 Xq27.1-27.2(chrX:139928002-141840850)x0 copy number loss See cases [RCV000051744] ChrX:139928002..141840850 [GRCh38]
ChrX:139010161..140928636 [GRCh37]
ChrX:138837827..140756302 [NCBI36]
ChrX:Xq27.1-27.2
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140422829-148166315)x0 copy number loss See cases [RCV000051745] ChrX:140422829..148166315 [GRCh38]
ChrX:139504994..147005548 [GRCh37]
ChrX:139332660..147055527 [NCBI36]
ChrX:Xq27.1-28
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:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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(chrX:140247565-140694868)x3 copy number gain See cases [RCV000052472] ChrX:140247565..140694868 [GRCh38]
ChrX:139329730..139777033 [GRCh37]
ChrX:139157396..139604699 [NCBI36]
ChrX:Xq27.1
pathogenic
GRCh38/hg38 Xq27.1(chrX:140265414-140661089)x3 copy number gain See cases [RCV000052473] ChrX:140265414..140661089 [GRCh38]
ChrX:139347579..139743254 [GRCh37]
ChrX:139175245..139570920 [NCBI36]
ChrX:Xq27.1
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
NM_005634.2(SOX3):c.603G>A (p.Lys201=) single nucleotide variant not provided [RCV000951902]|not specified [RCV000173383] ChrX:140504458 [GRCh38]
ChrX:139586623 [GRCh37]
ChrX:Xq27.1
benign
NM_005634.2(SOX3):c.14G>A (p.Arg5Gln) single nucleotide variant History of neurodevelopmental disorder [RCV000720981]|not provided [RCV000426288]|not specified [RCV000173384] ChrX:140505047 [GRCh38]
ChrX:139587212 [GRCh37]
ChrX:Xq27.1
benign|likely benign
NM_005634.2(SOX3):c.127G>A (p.Ala43Thr) single nucleotide variant History of neurodevelopmental disorder [RCV000720944]|not provided [RCV000224480]|not specified [RCV000173385] ChrX:140504934 [GRCh38]
ChrX:139587099 [GRCh37]
ChrX:Xq27.1
benign
NM_005634.2(SOX3):c.732delinsCGCC (p.Ala248dup) indel not specified [RCV000173388] ChrX:140504329 [GRCh38]
ChrX:139586494 [GRCh37]
ChrX:Xq27.1
likely benign
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_005634.2(SOX3):c.307C>A (p.Pro103Thr) single nucleotide variant History of neurodevelopmental disorder [RCV000720977]|not provided [RCV000224592]|not specified [RCV000081318] ChrX:140504754 [GRCh38]
ChrX:139586919 [GRCh37]
ChrX:Xq27.1
benign
NM_005634.2(SOX3):c.609T>C (p.Tyr203=) single nucleotide variant History of neurodevelopmental disorder [RCV000720947]|not specified [RCV000081319] ChrX:140504452 [GRCh38]
ChrX:139586617 [GRCh37]
ChrX:Xq27.1
benign
NM_005634.2(SOX3):c.732A>C (p.Ala244=) single nucleotide variant History of neurodevelopmental disorder [RCV000720948]|not specified [RCV000081320] ChrX:140504329 [GRCh38]
ChrX:139586494 [GRCh37]
ChrX:Xq27.1
benign|uncertain significance
NM_005634.2(SOX3):c.735_737dup (p.Ala248dup) duplication Autistic disorder of childhood onset [RCV000735316]|Mental retardation with panhypopituitarism, X-linked [RCV000790946]|Pectus excavatum [RCV000735292]|not provided [RCV000081321] ChrX:140504323..140504324 [GRCh38]
ChrX:139586488..139586489 [GRCh37]
ChrX:Xq27.1
likely benign|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
NM_005634.2(SOX3):c.-4G>A single nucleotide variant not provided [RCV000173382] ChrX:140505064 [GRCh38]
ChrX:139587229 [GRCh37]
ChrX:Xq27.1
uncertain significance
NM_005634.2(SOX3):c.856A>G (p.Ser286Gly) single nucleotide variant not provided [RCV000173386] ChrX:140504205 [GRCh38]
ChrX:139586370 [GRCh37]
ChrX:Xq27.1
uncertain significance
NM_005634.2(SOX3):c.84A>C (p.Leu28=) single nucleotide variant not provided [RCV000173387] ChrX:140504977 [GRCh38]
ChrX:139587142 [GRCh37]
ChrX:Xq27.1
uncertain significance
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)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-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 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 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 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 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 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 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 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 Xq27.1(chrX:140427884-140719116)x3 copy number gain See cases [RCV000138302] ChrX:140427884..140719116 [GRCh38]
ChrX:139510049..139801281 [GRCh37]
ChrX:139337715..139628947 [NCBI36]
ChrX:Xq27.1
uncertain significance
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 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 Xq21.1-28(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 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 Xq27.1(chrX:140430903-140617625)x2 copy number gain See cases [RCV000141967] ChrX:140430903..140617625 [GRCh38]
ChrX:139513068..139699790 [GRCh37]
ChrX:139340734..139527456 [NCBI36]
ChrX:Xq27.1
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 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
NM_005634.2(SOX3):c.157G>C (p.Val53Leu) single nucleotide variant Abnormality of brain morphology [RCV000454344]|History of neurodevelopmental disorder [RCV000720991]|not provided [RCV000878811]|not specified [RCV000153990] ChrX:140504904 [GRCh38]
ChrX:139587069 [GRCh37]
ChrX:Xq27.1
likely pathogenic|benign|likely benign|uncertain significance
GRCh37/hg19 Xq27.1-28(chrX:138125974-147236414)x2 copy number gain See cases [RCV000167566] ChrX:138125974..147236414 [GRCh37]
ChrX:Xq27.1-28
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 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq27.1(chrX:139102248-139697913)x2 copy number gain See cases [RCV000258808] ChrX:139102248..139697913 [GRCh37]
ChrX:Xq27.1
likely pathogenic|uncertain significance
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: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:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..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:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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 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:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_005634.2(SOX3):c.726_731del (p.Ala247_Ala248del) deletion not specified [RCV000338073] ChrX:140504330..140504335 [GRCh38]
ChrX:139586495..139586500 [GRCh37]
ChrX:Xq27.1
likely benign|uncertain significance
NM_005634.2(SOX3):c.711_731del (p.Ala242_Ala248del) deletion not provided [RCV000878653]|not specified [RCV000339946] ChrX:140504330..140504350 [GRCh38]
ChrX:139586495..139586515 [GRCh37]
ChrX:Xq27.1
benign|likely benign
NM_005634.2(SOX3):c.398G>T (p.Gly133Val) single nucleotide variant not provided [RCV000278996] ChrX:140504663 [GRCh38]
ChrX:139586828 [GRCh37]
ChrX:Xq27.1
uncertain significance
NM_005634.2(SOX3):c.77T>C (p.Ile26Thr) single nucleotide variant Intellectual disability [RCV001252104]|not provided [RCV000969509]|not specified [RCV000331136] ChrX:140504984 [GRCh38]
ChrX:139587149 [GRCh37]
ChrX:Xq27.1
benign|likely benign
NM_005634.2(SOX3):c.118C>T (p.Pro40Ser) single nucleotide variant not provided [RCV000735120] ChrX:140504943 [GRCh38]
ChrX:139587108 [GRCh37]
ChrX:Xq27.1
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 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: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 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
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 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:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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 Xq27.1(chrX:139091555-140159954)x3 copy number gain See cases [RCV000447743] ChrX:139091555..140159954 [GRCh37]
ChrX:Xq27.1
uncertain significance
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:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_005634.2(SOX3):c.717_737del (p.Ala242_Ala248del) deletion not specified [RCV000502744] ChrX:140504324..140504344 [GRCh38]
ChrX:139586489..139586509 [GRCh37]
ChrX:Xq27.1
likely benign
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 Xq27.1-27.2(chrX:138768091-140805967)x3 copy number gain See cases [RCV000511988] ChrX:138768091..140805967 [GRCh37]
ChrX:Xq27.1-27.2
likely benign
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 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
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 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 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 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_005634.2(SOX3):c.449C>A (p.Ser150Tyr) single nucleotide variant Mental retardation with panhypopituitarism, X-linked [RCV000512488] ChrX:140504612 [GRCh38]
ChrX:139586777 [GRCh37]
ChrX:Xq27.1
likely pathogenic
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 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 Xq24-27.1(chrX:117998704-140159954)x3 copy number gain not provided [RCV000684377] ChrX:117998704..140159954 [GRCh37]
ChrX:Xq24-27.1
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 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
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_005634.2(SOX3):c.753G>C (p.Pro251=) single nucleotide variant History of neurodevelopmental disorder [RCV000721004] ChrX:140504308 [GRCh38]
ChrX:139586473 [GRCh37]
ChrX:Xq27.1
likely benign
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
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 Xq27.1-28(chrX:138750575-155246749)x1 copy number loss not provided [RCV000753810] ChrX:138750575..155246749 [GRCh37]
ChrX:Xq27.1-28
pathogenic
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
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [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: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
NM_005634.2(SOX3):c.1068G>A (p.Ala356=) single nucleotide variant not provided [RCV000879006] ChrX:140503993 [GRCh38]
ChrX:139586158 [GRCh37]
ChrX:Xq27.1
likely benign
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 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NM_005634.2(SOX3):c.1297G>T (p.Ala433Ser) single nucleotide variant Premature ovarian insufficiency [RCV000766147] ChrX:140503764 [GRCh38]
ChrX:139585929 [GRCh37]
ChrX:Xq27.1
uncertain significance
GRCh37/hg19 Xq27.1-28(chrX:138120235-147240344)x2 copy number gain not provided [RCV000849149] ChrX:138120235..147240344 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.(?_138612860)_(139587225_?)del deletion Hereditary factor IX deficiency disease [RCV000823961] ChrX:138612860..139587225 [GRCh37]
ChrX:Xq27.1
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
NM_005634.2(SOX3):c.1093A>C (p.Met365Leu) single nucleotide variant not provided [RCV000981695] ChrX:140503968 [GRCh38]
ChrX:139586133 [GRCh37]
ChrX:Xq27.1
likely benign
GRCh37/hg19 Xq27.1-28(chrX:139513270-149234353)x2 copy number gain not provided [RCV000846424] ChrX:139513270..149234353 [GRCh37]
ChrX:Xq27.1-28
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 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
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
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
NM_005634.3(SOX3):c.186TCC[1] (p.Pro64del) microsatellite Panhypopituitarism, X-linked [RCV001198636] ChrX:140504870..140504872 [GRCh38]
ChrX:139587035..139587037 [GRCh37]
ChrX:Xq27.1
uncertain significance
NM_005634.2(SOX3):c.987C>T (p.Ala329=) single nucleotide variant not provided [RCV000933267] ChrX:140504074 [GRCh38]
ChrX:139586239 [GRCh37]
ChrX:Xq27.1
likely benign
NM_005634.2(SOX3):c.14G>C (p.Arg5Pro) single nucleotide variant Mental retardation with panhypopituitarism, X-linked [RCV000990956] ChrX:140505047 [GRCh38]
ChrX:139587212 [GRCh37]
ChrX:Xq27.1
likely benign
GRCh37/hg19 Xq27.1(chrX:139504563-139804670)x4 copy number gain not provided [RCV001007352] ChrX:139504563..139804670 [GRCh37]
ChrX:Xq27.1
uncertain significance
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely 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 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
NM_005634.3(SOX3):c.20A>G (p.Asn7Ser) single nucleotide variant Mental retardation with panhypopituitarism, X-linked [RCV001336851] ChrX:140505041 [GRCh38]
ChrX:139587206 [GRCh37]
ChrX:Xq27.1
uncertain significance
NM_005634.3(SOX3):c.337G>A (p.Ala113Thr) single nucleotide variant Mental retardation with panhypopituitarism, X-linked [RCV001336852] ChrX:140504724 [GRCh38]
ChrX:139586889 [GRCh37]
ChrX:Xq27.1
uncertain significance
NM_005634.3(SOX3):c.791T>G (p.Val264Gly) single nucleotide variant Mental retardation with panhypopituitarism, X-linked [RCV001331445] ChrX:140504270 [GRCh38]
ChrX:139586435 [GRCh37]
ChrX:Xq27.1
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11199 AgrOrtholog
COSMIC SOX3 COSMIC
Ensembl Genes ENSG00000134595 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000359567 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000370536 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.30.10 UniProtKB/Swiss-Prot
GTEx ENSG00000134595 GTEx
HGNC ID HGNC:11199 ENTREZGENE
Human Proteome Map SOX3 Human Proteome Map
InterPro HMG_box_dom UniProtKB/Swiss-Prot
  HMG_box_dom_sf UniProtKB/Swiss-Prot
  SOX-3 UniProtKB/Swiss-Prot
  SOX_fam UniProtKB/Swiss-Prot
KEGG Report hsa:6658 UniProtKB/Swiss-Prot
NCBI Gene 6658 ENTREZGENE
OMIM 300123 OMIM
  312000 OMIM
  313430 OMIM
PANTHER PTHR10270:SF111 UniProtKB/Swiss-Prot
Pfam HMG_box UniProtKB/Swiss-Prot
  SOXp UniProtKB/Swiss-Prot
PharmGKB PA36036 PharmGKB
PROSITE HMG_BOX_2 UniProtKB/Swiss-Prot
SMART HMG UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47095 UniProtKB/Swiss-Prot
UniProt P41225 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary P35714 UniProtKB/Swiss-Prot
  Q5JWI3 UniProtKB/Swiss-Prot
  Q9NP49 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-06-18 SOX3  SRY-box transcription factor 3  SOX3  SRY-box 3  Symbol and/or name change 5135510 APPROVED
2016-04-05 SOX3  SRY-box 3  PHP  panhypopituitarism  Data Merged 737654 PROVISIONAL
2015-12-01 SOX3  SRY-box 3    SRY box 3  Symbol and/or name change 5135510 APPROVED
2015-11-10 SOX3  SRY box 3    SRY (sex determining region Y)-box 3  Symbol and/or name change 5135510 APPROVED
2011-08-17 SOX3  SRY (sex determining region Y)-box 3  SOX3  SRY (sex determining region Y)-box 3  Symbol and/or name change 5135510 APPROVED