SOX10 (SRY-box transcription factor 10) - Rat Genome Database

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Gene: SOX10 (SRY-box transcription factor 10) Homo sapiens
Analyze
Symbol: SOX10
Name: SRY-box transcription factor 10
RGD ID: 731681
HGNC Page HGNC
Description: Enables identical protein binding activity and sequence-specific double-stranded DNA binding activity. Predicted to be involved in several processes, including nervous system development; neural crest cell migration; and regulation of transcription, DNA-templated. Predicted to act upstream of or within several processes, including lacrimal gland development; melanocyte differentiation; and positive regulation of neuroblast proliferation. Located in nucleoplasm. Implicated in Kallmann syndrome; PCWH syndrome; Waardenburg syndrome type 2E; and Waardenburg syndrome type 4C.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DOM; dominant megacolon, mouse, human homolog of; MGC15649; PCWH; SRY (sex determining region Y)-box 10; SRY box 10; SRY-box 10; sry-box containing gene 10; SRY-related HMG-box gene 10; transcription factor SOX-10; WS2E; WS4; WS4C
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 Ensembl2237,970,686 - 37,987,422 (-)EnsemblGRCh38hg38GRCh38
GRCh382237,972,312 - 37,984,555 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372238,368,319 - 38,380,562 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362236,698,265 - 36,710,485 (-)NCBINCBI36hg18NCBI36
Build 342236,692,819 - 36,705,039NCBI
Celera2222,170,048 - 22,182,268 (-)NCBI
Cytogenetic Map22q13.1NCBI
HuRef2221,334,376 - 21,346,534 (-)NCBIHuRef
CHM1_12238,327,060 - 38,339,280 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
anatomical structure morphogenesis  (TAS)
cell differentiation  (ISO)
cell maturation  (IEA,ISO)
cellular response to progesterone stimulus  (IEA,ISO)
cellular response to xenobiotic stimulus  (IEA,ISO)
central nervous system myelination  (ISS)
developmental growth  (IEA,ISO)
digestive tract morphogenesis  (IEA,ISO)
enteric nervous system development  (IBA,ISO)
in utero embryonic development  (IEA,ISO)
lacrimal gland development  (IEA,ISO)
melanocyte differentiation  (IEA,ISO)
morphogenesis of a branching epithelium  (IEA,ISO)
morphogenesis of an epithelium  (IBA)
negative regulation of apoptotic process  (IEA)
negative regulation of canonical Wnt signaling pathway  (IEA)
negative regulation of Schwann cell proliferation  (IEA,ISO)
negative regulation of transcription by RNA polymerase II  (IBA)
negative regulation of transcription, DNA-templated  (ISO)
neural crest cell migration  (IBA)
oligodendrocyte development  (ISS)
oligodendrocyte differentiation  (ISO,ISS)
peripheral nervous system development  (IBA,ISO)
positive regulation of gene expression  (IEA,ISO)
positive regulation of gliogenesis  (IEA)
positive regulation of myelination  (IEA,ISO)
positive regulation of neuroblast proliferation  (IEA,ISO)
positive regulation of transcription by RNA polymerase II  (IEA,ISO)
positive regulation of transcription, DNA-templated  (ISO,ISS)
regulation of transcription by RNA polymerase II  (IBA,TAS)
regulation of transcription, DNA-templated  (ISO)
stem cell differentiation  (ISO)
transcription elongation from RNA polymerase II promoter  (IEA,ISO)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal pain  (IAGP)
Abnormal autonomic nervous system physiology  (IAGP)
Abnormal eyebrow morphology  (IAGP)
Abnormal macular morphology  (IAGP)
Abnormal morphology of female internal genitalia  (IAGP)
Abnormal pyramidal sign  (IAGP)
Abnormality of cardiovascular system morphology  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Abnormality of the kidney  (IAGP)
Abnormality of the pulmonary artery  (IAGP)
Abnormality of the voice  (IAGP)
Abnormality of vision  (IAGP)
Absent brainstem auditory responses  (IAGP)
Aganglionic megacolon  (IAGP)
Alacrima  (IAGP)
Anosmia  (IAGP)
Anterior hypopituitarism  (IAGP)
Aplasia of the parotid gland  (IAGP)
Aplasia of the semicircular canal  (IAGP)
Areflexia  (IAGP)
Arrhythmia  (IAGP)
Arthrogryposis multiplex congenita  (IAGP)
Ataxia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bimanual synkinesia  (IAGP)
Blue irides  (IAGP)
Breast hypoplasia  (IAGP)
Cafe-au-lait spot  (IAGP)
Cerebral dysmyelination  (IAGP)
Cerebral hypomyelination  (IAGP)
Cleft palate  (IAGP)
Cochlear malformation  (IAGP)
Color vision defect  (IAGP)
Constipation  (IAGP)
Cryptorchidism  (IAGP)
Decreased fertility  (IAGP)
Decreased lacrimation  (IAGP)
Decreased nerve conduction velocity  (IAGP)
Decreased testicular size  (IAGP)
Delayed puberty  (IAGP)
Delayed skeletal maturation  (IAGP)
Demyelinating peripheral neuropathy  (IAGP)
Dilated vestibule of the inner ear  (IAGP)
Distal amyotrophy  (IAGP)
Distal muscle weakness  (IAGP)
Distal sensory impairment  (IAGP)
Dysarthria  (IAGP)
Dysmyelinating leukodystrophy  (IAGP)
Dyspareunia  (IAGP)
Enlarged vestibular aqueduct  (IAGP)
Erectile dysfunction  (IAGP)
Gait disturbance  (IAGP)
Global developmental delay  (IAGP)
Gynecomastia  (IAGP)
Hearing impairment  (IAGP)
Hepatomegaly  (IAGP)
Heterochromia iridis  (IAGP)
Heterogeneous  (IAGP)
Hypertonia  (IAGP)
Hypogonadism  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypohidrosis  (IAGP)
Hypopigmentation of hair  (IAGP)
Hypopigmentation of the fundus  (IAGP)
Hypopigmented skin patches  (IAGP)
Hypoplasia of the iris  (IAGP)
Hypoplasia of the semicircular canal  (IAGP)
Hyporeflexia  (IAGP)
Hyposmia  (IAGP)
Hypothalamic gonadotropin-releasing hormone deficiency  (IAGP)
Hypotonia  (IAGP)
Ichthyosis  (IAGP)
Ileus  (IAGP)
Intellectual disability  (IAGP)
Intestinal obstruction  (IAGP)
Lacrimal gland hypoplasia  (IAGP)
Long-segment aganglionic megacolon  (IAGP)
Microcolon  (IAGP)
Micropenis  (IAGP)
Morphological abnormality of the semicircular canal  (IAGP)
Muscle weakness  (IAGP)
Muscular hypotonia of the trunk  (IAGP)
Myelin outfoldings  (IAGP)
Neonatal hypotonia  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Ocular albinism  (IAGP)
Olfactory lobe agenesis  (IAGP)
Paraplegia  (IAGP)
Pectus excavatum  (IAGP)
Peripheral demyelination  (IAGP)
Peripheral hypomyelination  (IAGP)
Peripheral neuropathy  (IAGP)
Pes cavus  (IAGP)
Pes planus  (IAGP)
Premature graying of hair  (IAGP)
Primary amenorrhea  (IAGP)
Prominent nasal bridge  (IAGP)
Ptosis  (IAGP)
Recurrent fractures  (IAGP)
Reduced bone mineral density  (IAGP)
Renal agenesis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Skeletal dysplasia  (IAGP)
Spastic paraparesis  (IAGP)
Spastic tetraplegia  (IAGP)
Spasticity  (IAGP)
Splenomegaly  (IAGP)
Synophrys  (IAGP)
Telecanthus  (IAGP)
Tooth agenesis  (IAGP)
Tremor  (IAGP)
Underdeveloped nasal alae  (IAGP)
Vascular dilatation  (IAGP)
Visual impairment  (IAGP)
White eyebrow  (IAGP)
White eyelashes  (IAGP)
White forelock  (IAGP)
Wide nasal bridge  (IAGP)
References

Additional References at PubMed
PMID:1636383   PMID:9425902   PMID:9722528   PMID:9760192   PMID:10077527   PMID:10441344   PMID:10482261   PMID:10591208   PMID:10762540   PMID:10942418   PMID:11029584   PMID:11546831  
PMID:12138193   PMID:12189494   PMID:12477932   PMID:12668617   PMID:12720173   PMID:12944398   PMID:14523991   PMID:15004559   PMID:15461802   PMID:15489334   PMID:15843399   PMID:15896776  
PMID:15930386   PMID:16205963   PMID:16214168   PMID:16494873   PMID:16582099   PMID:16741945   PMID:16791471   PMID:16896310   PMID:17009072   PMID:17621166   PMID:17855451   PMID:17855658  
PMID:17999358   PMID:18348267   PMID:18348274   PMID:18512230   PMID:18627047   PMID:18636017   PMID:18786246   PMID:18923447   PMID:19274049   PMID:19320733   PMID:19422606   PMID:19764030  
PMID:19912373   PMID:19933217   PMID:20067553   PMID:20130826   PMID:20301509   PMID:20301612   PMID:20308050   PMID:20478267   PMID:20653825   PMID:20890226   PMID:20974870   PMID:21531202  
PMID:21552103   PMID:21873635   PMID:21898658   PMID:21988832   PMID:22008330   PMID:22094256   PMID:22325460   PMID:22337526   PMID:22514309   PMID:22640896   PMID:22736149   PMID:22772081  
PMID:22804786   PMID:22848661   PMID:23197006   PMID:23260325   PMID:23275444   PMID:23291581   PMID:23413263   PMID:23456610   PMID:23558573   PMID:23752089   PMID:23782678   PMID:23799842  
PMID:23801280   PMID:23929265   PMID:24311220   PMID:24329979   PMID:24335528   PMID:24357527   PMID:24379252   PMID:24501781   PMID:24608986   PMID:24715709   PMID:24735604   PMID:24833716  
PMID:24845202   PMID:24887110   PMID:24927141   PMID:24982138   PMID:25001176   PMID:25256313   PMID:25265429   PMID:25267720   PMID:25301735   PMID:25356946   PMID:25436903   PMID:25524031  
PMID:25562414   PMID:25611246   PMID:25629959   PMID:25724000   PMID:25865119   PMID:26060192   PMID:26228106   PMID:26287936   PMID:26296878   PMID:26461473   PMID:26467042   PMID:26619208  
PMID:26928066   PMID:26945037   PMID:26951260   PMID:27084744   PMID:27110718   PMID:27137987   PMID:27327192   PMID:27418670   PMID:27454999   PMID:27466180   PMID:27785726   PMID:27943102  
PMID:28098399   PMID:28107504   PMID:28128317   PMID:28189679   PMID:28216417   PMID:28343365   PMID:28390600   PMID:28395065   PMID:28473536   PMID:28549040   PMID:28843711   PMID:28893539  
PMID:29059311   PMID:29168219   PMID:29295999   PMID:29726667   PMID:29894722   PMID:29969627   PMID:30071233   PMID:30122756   PMID:30174241   PMID:30205833   PMID:30392914   PMID:30468800  
PMID:30506895   PMID:30531326   PMID:30628718   PMID:30662561   PMID:30672775   PMID:30903273   PMID:30914325   PMID:30950082   PMID:30957251   PMID:31081043   PMID:31194875   PMID:31377750  
PMID:31789936   PMID:31828317   PMID:31895100   PMID:31960627   PMID:32027463   PMID:32150337   PMID:32234158   PMID:32238882   PMID:32296183   PMID:32565323   PMID:32580110   PMID:32737715  
PMID:32814053   PMID:32899175   PMID:32908489   PMID:33210885   PMID:33234331   PMID:33251892   PMID:33339831   PMID:33442024   PMID:34171448  


Genomics

Comparative Map Data
SOX10
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2237,970,686 - 37,987,422 (-)EnsemblGRCh38hg38GRCh38
GRCh382237,972,312 - 37,984,555 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372238,368,319 - 38,380,562 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362236,698,265 - 36,710,485 (-)NCBINCBI36hg18NCBI36
Build 342236,692,819 - 36,705,039NCBI
Celera2222,170,048 - 22,182,268 (-)NCBI
Cytogenetic Map22q13.1NCBI
HuRef2221,334,376 - 21,346,534 (-)NCBIHuRef
CHM1_12238,327,060 - 38,339,280 (-)NCBICHM1_1
Sox10
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391579,039,113 - 79,048,690 (-)NCBIGRCm39mm39
GRCm39 Ensembl1579,039,108 - 79,049,440 (-)Ensembl
GRCm381579,154,913 - 79,164,490 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1579,154,908 - 79,165,240 (-)EnsemblGRCm38mm10GRCm38
MGSCv371578,985,343 - 78,994,920 (-)NCBIGRCm37mm9NCBIm37
MGSCv361578,982,168 - 78,992,495 (-)NCBImm8
Celera1581,267,600 - 81,277,195 (-)NCBICelera
Cytogenetic Map15E1NCBI
cM Map1537.7NCBI
Sox10
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27110,725,274 - 110,735,544 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl7110,725,274 - 110,735,544 (-)Ensembl
Rnor_6.07120,393,238 - 120,403,523 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7120,393,254 - 120,403,523 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07120,387,071 - 120,397,340 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47117,138,694 - 117,149,939 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17117,172,923 - 117,184,169 (-)NCBI
Celera7107,059,767 - 107,070,023 (-)NCBICelera
RH 3.4 Map7839.3RGD
Cytogenetic Map7q34NCBI
Sox10
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541324,311,783 - 24,323,315 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541324,313,311 - 24,323,112 (-)NCBIChiLan1.0ChiLan1.0
SOX10
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12236,712,128 - 36,724,192 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2236,713,310 - 36,723,439 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02218,885,679 - 18,897,927 (-)NCBIMhudiblu_PPA_v0panPan3
SOX10
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11026,680,441 - 26,690,530 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1026,681,122 - 26,689,882 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1026,635,515 - 26,646,171 (+)NCBI
ROS_Cfam_1.01027,472,272 - 27,482,931 (+)NCBI
UMICH_Zoey_3.11027,192,256 - 27,202,906 (+)NCBI
UNSW_CanFamBas_1.01027,503,817 - 27,514,467 (+)NCBI
UU_Cfam_GSD_1.01027,681,016 - 27,691,677 (+)NCBI
Sox10
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494510,163,344 - 10,174,369 (+)NCBI
SpeTri2.0NW_0049364923,173,770 - 3,183,423 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SOX10
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl59,891,525 - 9,959,852 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.159,890,439 - 9,901,746 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.257,289,992 - 7,299,054 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SOX10
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11920,673,053 - 20,685,506 (-)NCBI
Vero_WHO_p1.0NW_023666045105,090,681 - 105,103,173 (+)NCBI
Sox10
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247529,965,015 - 9,976,244 (+)NCBI

Position Markers
D22S1156  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,381,771 - 38,381,926UniSTSGRCh37
Build 362236,711,717 - 36,711,872RGDNCBI36
Celera2222,183,500 - 22,183,655RGD
Cytogenetic Map22q13.1UniSTS
HuRef2221,347,772 - 21,347,921UniSTS
Marshfield Genetic Map2244.32UniSTS
Marshfield Genetic Map2244.32RGD
Genethon Genetic Map2238.2UniSTS
deCODE Assembly Map2246.24UniSTS
STS-N32174  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,368,488 - 38,368,751UniSTSGRCh37
Build 362236,698,434 - 36,698,697RGDNCBI36
Celera2222,170,217 - 22,170,480RGD
Cytogenetic Map22q13.1UniSTS
HuRef2221,334,545 - 21,334,808UniSTS
GeneMap99-GB4 RH Map22115.13UniSTS
SOX10_1580  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,368,834 - 38,369,534UniSTSGRCh37
Build 362236,698,780 - 36,699,480RGDNCBI36
Celera2222,170,563 - 22,171,263RGD
HuRef2221,334,891 - 21,335,591UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2514
Count of miRNA genes:852
Interacting mature miRNAs:1021
Transcripts:ENST00000360880, ENST00000396884, ENST00000427770, ENST00000446929, ENST00000470555
Prediction methods:Miranda, 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 entire extraembryonic component pharyngeal arch
High 5
Medium 4 1 1 3 1 1 54 1 66 5 14 4 2 1 2
Low 29 26 16 10 21 11 4 38 26 55 8 2 1
Below cutoff 43 115 92 212 92 3 5 2 116 96 73

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000360880   ⟹   ENSP00000354130
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2237,972,300 - 37,987,422 (-)Ensembl
RefSeq Acc Id: ENST00000396884   ⟹   ENSP00000380093
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2237,972,312 - 37,984,555 (-)Ensembl
RefSeq Acc Id: ENST00000427770   ⟹   ENSP00000414853
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2237,977,923 - 37,984,346 (-)Ensembl
RefSeq Acc Id: ENST00000446929   ⟹   ENSP00000399777
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2237,970,686 - 37,983,414 (-)Ensembl
RefSeq Acc Id: ENST00000470555
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2237,978,082 - 37,984,408 (-)Ensembl
RefSeq Acc Id: ENST00000651746   ⟹   ENSP00000498686
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2237,970,686 - 37,978,031 (-)Ensembl
RefSeq Acc Id: ENST00000652356
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2237,982,998 - 37,984,543 (-)Ensembl
RefSeq Acc Id: NM_006941   ⟹   NP_008872
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382237,972,312 - 37,984,555 (-)NCBI
GRCh372238,368,319 - 38,380,556 (-)NCBI
Build 362236,698,265 - 36,710,485 (-)NCBI Archive
HuRef2221,334,376 - 21,346,534 (-)ENTREZGENE
CHM1_12238,327,060 - 38,339,280 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_008872   ⟸   NM_006941
- UniProtKB: P56693 (UniProtKB/Swiss-Prot),   A0A024R1N6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000414853   ⟸   ENST00000427770
RefSeq Acc Id: ENSP00000354130   ⟸   ENST00000360880
RefSeq Acc Id: ENSP00000498686   ⟸   ENST00000651746
RefSeq Acc Id: ENSP00000399777   ⟸   ENST00000446929
RefSeq Acc Id: ENSP00000380093   ⟸   ENST00000396884
Protein Domains
HMG box

Promoters
RGD ID:13604026
Promoter ID:EPDNEW_H28197
Type:multiple initiation site
Name:SOX10_1
Description:SRY-box 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382237,984,543 - 37,984,603EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006941.4(SOX10):c.131C>G (p.Ala44Gly) single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV001149120]|Waardenburg syndrome [RCV001149119]|not provided [RCV000767097]|not specified [RCV000519667] Chr22:37983654 [GRCh38]
Chr22:38379661 [GRCh37]
Chr22:22q13.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006941.4(SOX10):c.743_744del (p.Glu248fs) microsatellite Waardenburg syndrome type 2E, without neurologic involvement [RCV000023178] Chr22:37974152..37974153 [GRCh38]
Chr22:38370159..38370160 [GRCh37]
Chr22:22q13.1
pathogenic
NM_001301130.2(POLR2F):c.294-2481del deletion Waardenburg syndrome type 2E, without neurologic involvement [RCV000023179] Chr22:37983672 [GRCh38]
Chr22:38379679 [GRCh37]
Chr22:22q13.1
pathogenic
NM_001301130.2(POLR2F):c.294-8155C>A single nucleotide variant Waardenburg syndrome type 4C [RCV000007817] Chr22:37977999 [GRCh38]
Chr22:38374006 [GRCh37]
Chr22:22q13.1
pathogenic
NM_001301130.2(POLR2F):c.294-2618G>C single nucleotide variant Waardenburg syndrome type 4C [RCV000007818] Chr22:37983536 [GRCh38]
Chr22:38379543 [GRCh37]
Chr22:22q13.1
pathogenic
NM_001301130.2(POLR2F):c.294-8073_294-8072insAGGAGC insertion Waardenburg syndrome type 4C [RCV000007819] Chr22:37978081..37978082 [GRCh38]
Chr22:38374088..38374089 [GRCh37]
Chr22:22q13.1
pathogenic
NM_006941.4(SOX10):c.1077_1078del (p.Glu359fs) microsatellite Waardenburg syndrome type 4C [RCV000007820] Chr22:37973818..37973819 [GRCh38]
Chr22:38369825..38369826 [GRCh37]
Chr22:22q13.1
pathogenic
NM_001301130.2(POLR2F):c.294-2773C>G single nucleotide variant Waardenburg syndrome type 2E, without neurologic involvement [RCV000007821] Chr22:37983381 [GRCh38]
Chr22:38379388 [GRCh37]
Chr22:22q13.1
pathogenic
NM_001301130.2(POLR2F):c.293+6787G>C single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV000007822] Chr22:37973957 [GRCh38]
Chr22:38369964 [GRCh37]
Chr22:22q13.1
pathogenic
NM_001301130.2(POLR2F):c.293+6974G>T single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV000007823] Chr22:37974144 [GRCh38]
Chr22:38370151 [GRCh37]
Chr22:22q13.1
pathogenic
NM_006941.3(SOX10):c.1400_*10delAAAGGGGGCCCT (p.*467Cysext*82) deletion Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV000007824] Chr22:37973485..37973496 [GRCh38]
Chr22:38369492..38369503 [GRCh37]
Chr22:22q13.1
pathogenic
NM_001301130.2(POLR2F):c.294-8211G>C single nucleotide variant Waardenburg syndrome type 4C [RCV000007825] Chr22:37977943 [GRCh38]
Chr22:38373950 [GRCh37]
Chr22:22q13.1
pathogenic
NM_006941.3(SOX10):c.1129C>T (p.Gln377Ter) single nucleotide variant Waardenburg syndrome type 2E, with neurologic involvement [RCV000007827]|Waardenburg syndrome type 4C [RCV000007826]|not provided [RCV000760372] Chr22:37973767 [GRCh38]
Chr22:38369774 [GRCh37]
Chr22:22q13.1
pathogenic
NM_001301130.2(POLR2F):c.293+6978G>A single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV000007828] Chr22:37974148 [GRCh38]
Chr22:38370155 [GRCh37]
Chr22:22q13.1
pathogenic
NM_006941.4(SOX10):c.698-740_1085delinsCCT indel Waardenburg syndrome type 4C [RCV000007829] Chr22:37973811..37974938 [GRCh38]
Chr22:38369818..38370945 [GRCh37]
Chr22:22q13.1
pathogenic
NM_006941.3(SOX10):c.219_428+43del deletion Waardenburg syndrome type 2E, without neurologic involvement [RCV000007830] Chr22:37983314..37983566 [GRCh38]
Chr22:38379321..38379573 [GRCh37]
Chr22:22q13.1
pathogenic
NM_006941.3(SOX10):c.429-1112_697+396del deletion Waardenburg syndrome type 2E, without neurologic involvement [RCV000007831] Chr22:37977471..37979247 [GRCh38]
Chr22:38373478..38375254 [GRCh37]
Chr22:22q13.1
pathogenic
NM_001301130.2(POLR2F):c.294-8094del deletion Waardenburg syndrome type 2E, without neurologic involvement [RCV000007832] Chr22:37978058 [GRCh38]
Chr22:38374065 [GRCh37]
Chr22:22q13.1
pathogenic
NM_001301130.2(POLR2F):c.294-8060G>A single nucleotide variant Waardenburg syndrome type 4C [RCV000007833] Chr22:37978094 [GRCh38]
Chr22:38374101 [GRCh37]
Chr22:22q13.1
pathogenic
NM_006941.3(SOX10):c.698-2A>C single nucleotide variant Waardenburg syndrome type 2E, with neurologic involvement [RCV000007834] Chr22:37974200 [GRCh38]
Chr22:38370207 [GRCh37]
Chr22:22q13.1
pathogenic
NM_001301130.2(POLR2F):c.294-8111T>G single nucleotide variant Waardenburg syndrome type 2E, with neurologic involvement [RCV000007835] Chr22:37978043 [GRCh38]
Chr22:38374050 [GRCh37]
Chr22:22q13.1
pathogenic
NM_006941.3(SOX10):c.797del (p.Gly266fs) deletion Charcot-Marie-Tooth disease [RCV000789612]|Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV000007836] Chr22:37974099 [GRCh38]
Chr22:38370106 [GRCh37]
Chr22:22q13.1
pathogenic|uncertain significance
NM_001301130.2(POLR2F):c.293+6813del deletion Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV000007837] Chr22:37973981 [GRCh38]
Chr22:38369988 [GRCh37]
Chr22:22q13.1
pathogenic
NM_006941.3(SOX10):c.232C>T (p.Gln78Ter) single nucleotide variant Waardenburg syndrome type 2E [RCV001290166]|not provided [RCV000627359] Chr22:37983553 [GRCh38]
Chr22:38379560 [GRCh37]
Chr22:22q13.1
pathogenic
NM_006941.3(SOX10):c.826G>A (p.Val276Met) single nucleotide variant not provided [RCV000519618] Chr22:37974070 [GRCh38]
Chr22:38370077 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_001301130.2(POLR2F):c.294-2371A>C single nucleotide variant Waardenburg syndrome type 2E, without neurologic involvement [RCV000055673] Chr22:37983783 [GRCh38]
Chr22:38379790 [GRCh37]
Chr22:22q13.1
pathogenic
GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1 copy number loss See cases [RCV000051364] Chr22:35333993..38900177 [GRCh38]
Chr22:35729986..39296182 [GRCh37]
Chr22:34059986..37626128 [NCBI36]
Chr22:22q12.3-13.1
pathogenic
GRCh38/hg38 22q12.3-13.1(chr22:36859030-39236985)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051366]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051366]|See cases [RCV000051366] Chr22:36859030..39236985 [GRCh38]
Chr22:37255072..39632990 [GRCh37]
Chr22:35585018..37962936 [NCBI36]
Chr22:22q12.3-13.1
pathogenic
GRCh38/hg38 22q13.1(chr22:37721777-38886664)x1 copy number loss See cases [RCV000051367] Chr22:37721777..38886664 [GRCh38]
Chr22:38117784..39282669 [GRCh37]
Chr22:36447730..37612615 [NCBI36]
Chr22:22q13.1
pathogenic
GRCh38/hg38 22q12.3-13.1(chr22:36068124-38002382)x3 copy number gain See cases [RCV000051683] Chr22:36068124..38002382 [GRCh38]
Chr22:36464172..38398389 [GRCh37]
Chr22:34794118..36728335 [NCBI36]
Chr22:22q12.3-13.1
pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 copy number gain See cases [RCV000051684] Chr22:37061769..50738932 [GRCh38]
Chr22:37457809..51177360 [GRCh37]
Chr22:35787755..49524226 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3 copy number gain See cases [RCV000051685] Chr22:37721797..40860953 [GRCh38]
Chr22:38117804..41256957 [GRCh37]
Chr22:36447750..39586903 [NCBI36]
Chr22:22q13.1-13.2
pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
NM_006941.3(SOX10):c.301A>T (p.Lys101Ter) single nucleotide variant Waardenburg syndrome type 4C [RCV000660277] Chr22:37983484 [GRCh38]
Chr22:38379491 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_001301130.2(POLR2F):c.294-2747dup duplication Waardenburg syndrome type 4C [RCV000660280] Chr22:37983404..37983405 [GRCh38]
Chr22:38379411..38379412 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_001301130.2(POLR2F):c.294-2669_294-2667delinsCC indel Waardenburg syndrome type 4C [RCV000660276] Chr22:37983485..37983487 [GRCh38]
Chr22:38379492..38379494 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_006941.3(SOX10):c.334A>G (p.Met112Val) single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV000765648]|Waardenburg syndrome type 4C [RCV000660278] Chr22:37983451 [GRCh38]
Chr22:38379458 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_001301130.2(POLR2F):c.294-2642_294-2623dup duplication Waardenburg syndrome type 4C [RCV000660275] Chr22:37983510..37983511 [GRCh38]
Chr22:38379517..38379518 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_006941.3(SOX10):c.452G>C (p.Arg151Pro) single nucleotide variant Waardenburg syndrome type 4C [RCV000660282] Chr22:37978112 [GRCh38]
Chr22:38374119 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_006941.3(SOX10):c.1090C>T (p.Gln364Ter) single nucleotide variant Waardenburg syndrome type 4C [RCV000660285] Chr22:37973806 [GRCh38]
Chr22:38369813 [GRCh37]
Chr22:22q13.1
pathogenic
NM_006941.3(SOX10):c.1127C>G (p.Ser376Ter) single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV000119813] Chr22:37973769 [GRCh38]
Chr22:38369776 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_001301130.2(POLR2F):c.294-2644_294-2640del deletion Waardenburg syndrome type 4C [RCV000119814] Chr22:37983510..37983514 [GRCh38]
Chr22:38379517..38379521 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_006941.4(SOX10):c.403A>G (p.Ser135Gly) single nucleotide variant Waardenburg syndrome type 2E [RCV001004070] Chr22:37983382 [GRCh38]
Chr22:38379389 [GRCh37]
Chr22:22q13.1
likely pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
NM_001301131.1(POLR2F):c.294-27388_*10734del deletion Hirschsprung disease 1 [RCV000144842] Chr22:38013680..38051826 [GRCh38]
Chr22:38409687..38447833 [GRCh37]
Chr22:22q13.1
pathogenic
NM_001301130.2(POLR2F):c.453-24294G>C single nucleotide variant Hirschsprung disease 1 [RCV000144843]|not provided [RCV000997923] Chr22:38016774 [GRCh38]
Chr22:38412781 [GRCh37]
Chr22:22q13.1
likely pathogenic|uncertain significance
NM_001301130.2(POLR2F):c.453-24860G>A single nucleotide variant Hirschsprung disease 1 [RCV000144844] Chr22:38016208 [GRCh38]
Chr22:38412215 [GRCh37]
Chr22:22q13.1
likely pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q13.1(chr22:37447222-39103680)x1 copy number loss See cases [RCV000141783] Chr22:37447222..39103680 [GRCh38]
Chr22:37843259..39499685 [GRCh37]
Chr22:36173205..37829631 [NCBI36]
Chr22:22q13.1
pathogenic
NM_006941.3(SOX10):c.425G>A (p.Trp142Ter) single nucleotide variant not provided [RCV000254896] Chr22:37983360 [GRCh38]
Chr22:38379367 [GRCh37]
Chr22:22q13.1
pathogenic
SOX10, 38-KB DEL, UPSTREAM REGULATORY REGION (SCV000108699) deletion HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 10 [RCV000169768] Chr22:22q13.1 not provided
SOX10, 38412781G-C, UPSTREAM REGULATORY REGION (SCV000108700) single nucleotide variant HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 10 [RCV000169769] Chr22:22q13.1 not provided
SOX10, 38412215G-A, UPSTREAM REGULATORY REGION (SCV000108701) single nucleotide variant HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 10 [RCV000169770] Chr22:22q13.1 not provided
GRCh37/hg19 22q12.3-13.1(chr22:37090025-39601950)x3 copy number gain See cases [RCV000446037] Chr22:37090025..39601950 [GRCh37]
Chr22:22q12.3-13.1
uncertain significance
NM_006941.4(SOX10):c.1353C>T (p.Ser451=) single nucleotide variant not provided [RCV000940317]|not specified [RCV000213271] Chr22:37973543 [GRCh38]
Chr22:38369550 [GRCh37]
Chr22:22q13.1
likely benign
NM_006941.4(SOX10):c.249C>T (p.Tyr83=) single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV000312275]|Waardenburg syndrome [RCV000369250]|not provided [RCV000431231]|not specified [RCV000220081] Chr22:37983536 [GRCh38]
Chr22:38379543 [GRCh37]
Chr22:22q13.1
benign|likely benign
NM_006941.4(SOX10):c.313A>C (p.Lys105Gln) single nucleotide variant not specified [RCV000217827] Chr22:37983472 [GRCh38]
Chr22:38379479 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_006941.4(SOX10):c.428+10C>G single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV000357254]|Waardenburg syndrome [RCV000407694]|not provided [RCV000838600]|not specified [RCV000213874] Chr22:37983347 [GRCh38]
Chr22:38379354 [GRCh37]
Chr22:22q13.1
benign|likely benign
NM_006941.4(SOX10):c.18C>T (p.Asp6=) single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV000363264]|Waardenburg syndrome [RCV000271237]|not provided [RCV000993099]|not specified [RCV000215751] Chr22:37983767 [GRCh38]
Chr22:38379774 [GRCh37]
Chr22:22q13.1
benign|likely benign
NM_006941.4(SOX10):c.401T>C (p.Leu134Pro) single nucleotide variant Rare genetic deafness [RCV000215786] Chr22:37983384 [GRCh38]
Chr22:38379391 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_006941.4(SOX10):c.927T>C (p.His309=) single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV000368913]|Waardenburg syndrome [RCV000276693]|not provided [RCV001510332]|not specified [RCV000218215] Chr22:37973969 [GRCh38]
Chr22:38369976 [GRCh37]
Chr22:22q13.1
benign
NM_006941.4(SOX10):c.822C>T (p.Gly274=) single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV001144416]|Waardenburg syndrome [RCV001144415]|not provided [RCV000871208]|not specified [RCV000220513] Chr22:37974074 [GRCh38]
Chr22:38370081 [GRCh37]
Chr22:22q13.1
benign|likely benign
NM_006941.4(SOX10):c.191A>T (p.Asp64Val) single nucleotide variant not provided [RCV001509097]|not specified [RCV000221276] Chr22:37983594 [GRCh38]
Chr22:38379601 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_006941.4(SOX10):c.211T>G (p.Cys71Gly) single nucleotide variant Waardenburg syndrome type 2E [RCV001420589]|Waardenburg syndrome type 4C [RCV000660274]|not provided [RCV001544623]|not specified [RCV000214833] Chr22:37983574 [GRCh38]
Chr22:38379581 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_006941.3(SOX10):c.(?_698)_(1401_?)del deletion Rare genetic deafness [RCV000214868] Chr22:37973495..37974198 [GRCh38]
Chr22:38369502..38370205 [GRCh37]
Chr22:22q13.1
pathogenic
NM_006941.4(SOX10):c.207C>T (p.Pro69=) single nucleotide variant not specified [RCV000216897] Chr22:37983578 [GRCh38]
Chr22:38379585 [GRCh37]
Chr22:22q13.1
likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_006941.4(SOX10):c.72C>T (p.Ser24=) single nucleotide variant not provided [RCV000729027]|not specified [RCV000599945] Chr22:37983713 [GRCh38]
Chr22:38379720 [GRCh37]
Chr22:22q13.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33
pathogenic
NM_006941.4(SOX10):c.795G>A (p.Glu265=) single nucleotide variant not provided [RCV001544581] Chr22:37974101 [GRCh38]
Chr22:38370108 [GRCh37]
Chr22:22q13.1
likely benign
NM_006941.3(SOX10):c.*711C>T single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV000347411]|Waardenburg syndrome [RCV000308864] Chr22:37972784 [GRCh38]
Chr22:38368791 [GRCh37]
Chr22:22q13.1
benign|likely benign
NM_006941.3(SOX10):c.*537G>C single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV000360067]|Waardenburg syndrome [RCV000407568] Chr22:37972958 [GRCh38]
Chr22:38368965 [GRCh37]
Chr22:22q13.1
benign|likely benign
NM_006941.4(SOX10):c.122G>T (p.Gly41Val) single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV000277103]|Waardenburg syndrome [RCV000325156]|not provided [RCV000877144]|not specified [RCV000613610] Chr22:37983663 [GRCh38]
Chr22:38379670 [GRCh37]
Chr22:22q13.1
benign|likely benign
NM_006941.3(SOX10):c.*1179G>A single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV000319634]|Waardenburg syndrome [RCV000374257] Chr22:37972316 [GRCh38]
Chr22:38368323 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_006941.3(SOX10):c.*158A>G single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV000261745]|Waardenburg syndrome [RCV000319216] Chr22:37973337 [GRCh38]
Chr22:38369344 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_006941.3(SOX10):c.507G>A (p.Pro169=) single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV000335304]|Waardenburg syndrome [RCV000287308]|not provided [RCV000876764] Chr22:37978057 [GRCh38]
Chr22:38374064 [GRCh37]
Chr22:22q13.1
benign|likely benign
NM_006941.4(SOX10):c.753G>A (p.Ser251=) single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV000328321]|Waardenburg syndrome [RCV000289683]|not provided [RCV000728071]|not specified [RCV000616999] Chr22:37974143 [GRCh38]
Chr22:38370150 [GRCh37]
Chr22:22q13.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006941.3(SOX10):c.906G>A (p.Pro302=) single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV000333976]|Waardenburg syndrome [RCV000381610] Chr22:37973990 [GRCh38]
Chr22:38369997 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_001301130.2(POLR2F):c.293+5240_293+5241del microsatellite Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV000348868]|Waardenburg syndrome [RCV000293927] Chr22:37972408..37972409 [GRCh38]
Chr22:38368415..38368416 [GRCh37]
Chr22:22q13.1
likely benign
NM_006941.3(SOX10):c.*932G>A single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV000389456]|Waardenburg syndrome [RCV000296102] Chr22:37972563 [GRCh38]
Chr22:38368570 [GRCh37]
Chr22:22q13.1
likely benign
NM_006941.3(SOX10):c.585C>T (p.Ala195=) single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV000340670]|Waardenburg syndrome [RCV000399912] Chr22:37977979 [GRCh38]
Chr22:38373986 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_006941.3(SOX10):c.*475G>A single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV000354094]|Waardenburg syndrome [RCV000296837] Chr22:37973020 [GRCh38]
Chr22:38369027 [GRCh37]
Chr22:22q13.1
benign
NM_006941.3(SOX10):c.*712G>T single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV000343997]|Waardenburg syndrome [RCV000389931] Chr22:37972783 [GRCh38]
Chr22:38368790 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_006941.3(SOX10):c.429-12A>G single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV000300181]|Waardenburg syndrome [RCV000407688] Chr22:37978147 [GRCh38]
Chr22:38374154 [GRCh37]
Chr22:22q13.1
benign|likely benign
NM_006941.4(SOX10):c.1018G>A (p.Val340Met) single nucleotide variant not provided [RCV001356257] Chr22:37973878 [GRCh38]
Chr22:38369885 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_006941.3(SOX10):c.*643A>G single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV000302876]|Waardenburg syndrome [RCV000407546] Chr22:37972852 [GRCh38]
Chr22:38368859 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_006941.3(SOX10):c.746T>A (p.Leu249Gln) single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV000283875]|Waardenburg syndrome [RCV000385265] Chr22:37974150 [GRCh38]
Chr22:38370157 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_006941.3(SOX10):c.-63A>G single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV000376226]|Waardenburg syndrome [RCV000328593] Chr22:37983847 [GRCh38]
Chr22:38379854 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_006941.3(SOX10):c.574G>A (p.Gly192Ser) single nucleotide variant not provided [RCV000598423] Chr22:37977990 [GRCh38]
Chr22:38373997 [GRCh37]
Chr22:22q13.1
conflicting interpretations of pathogenicity|uncertain significance
NM_006941.4(SOX10):c.717C>G (p.Pro239=) single nucleotide variant not specified [RCV000606045] Chr22:37974179 [GRCh38]
Chr22:38370186 [GRCh37]
Chr22:22q13.1
likely benign
NM_001301130.2(POLR2F):c.293+6619del deletion Waardenburg syndrome type 4C [RCV000660287]|not provided [RCV000599033] Chr22:37973789 [GRCh38]
Chr22:38369796 [GRCh37]
Chr22:22q13.1
pathogenic|likely pathogenic
NM_006941.4(SOX10):c.425G>C (p.Trp142Ser) single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV001170070] Chr22:37983360 [GRCh38]
Chr22:38379367 [GRCh37]
Chr22:22q13.1
pathogenic
NM_001301130.2(POLR2F):c.294-8194_294-8193del deletion not provided [RCV000735059] Chr22:37977959..37977960 [GRCh38]
Chr22:38373966..38373967 [GRCh37]
Chr22:22q13.1
pathogenic
NM_006941.3(SOX10):c.487C>T (p.Gln163Ter) single nucleotide variant Waardenburg syndrome type 2E [RCV000735663] Chr22:37978077 [GRCh38]
Chr22:38374084 [GRCh37]
Chr22:22q13.1
pathogenic
NM_001301130.2(POLR2F):c.293+6612G>C single nucleotide variant not provided [RCV000416089] Chr22:37973782 [GRCh38]
Chr22:38369789 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_006941.3(SOX10):c.316C>G (p.Arg106Gly) single nucleotide variant Waardenburg syndrome type 2E [RCV000415328] Chr22:37983469 [GRCh38]
Chr22:38379476 [GRCh37]
Chr22:22q13.1
likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.1(chr22:38322968-38965458) copy number gain See cases [RCV000447478] Chr22:38322968..38965458 [GRCh37]
Chr22:22q13.1
likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_001301130.2(POLR2F):c.294-2507del deletion Waardenburg syndrome type 4C [RCV000660273]|not provided [RCV000483964] Chr22:37983644 [GRCh38]
Chr22:38379651 [GRCh37]
Chr22:22q13.1
pathogenic|likely pathogenic
NM_006941.3(SOX10):c.50C>A (p.Ser17Ter) single nucleotide variant not provided [RCV000479482] Chr22:37983735 [GRCh38]
Chr22:38379742 [GRCh37]
Chr22:22q13.1
likely pathogenic
GRCh37/hg19 22q13.1(chr22:37866631-39054815)x1 copy number loss See cases [RCV000511673] Chr22:37866631..39054815 [GRCh37]
Chr22:22q13.1
pathogenic
GRCh37/hg19 22q12.3-13.1(chr22:36877226-38548989)x1 copy number loss See cases [RCV000512008] Chr22:36877226..38548989 [GRCh37]
Chr22:22q12.3-13.1
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_006941.4(SOX10):c.773G>A (p.Arg258Gln) single nucleotide variant not specified [RCV000602662] Chr22:37974123 [GRCh38]
Chr22:38370130 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_006941.4(SOX10):c.44_62delTGGGCTCGGAGGAGCCCCG deletion Waardenburg syndrome type 2A [RCV000626403] Chr22:37983723..37983741 [GRCh38]
Chr22:38379730..38379748 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_006941.4(SOX10):c.426G>A (p.Trp142Ter) single nucleotide variant Rare genetic deafness [RCV000614769] Chr22:37983359 [GRCh38]
Chr22:38379366 [GRCh37]
Chr22:22q13.1
pathogenic
NM_006941.3(SOX10):c.403A>C (p.Ser135Arg) single nucleotide variant Waardenburg syndrome type 2A [RCV000626402] Chr22:37983382 [GRCh38]
Chr22:38379389 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_006941.3(SOX10):c.975C>T (p.Ala325=) single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV001148996]|Waardenburg syndrome [RCV001148995]|not specified [RCV000608041] Chr22:37973921 [GRCh38]
Chr22:38369928 [GRCh37]
Chr22:22q13.1
likely benign
NM_006941.4(SOX10):c.1125C>T (p.Thr375=) single nucleotide variant not provided [RCV000946188]|not specified [RCV000608692] Chr22:37973771 [GRCh38]
Chr22:38369778 [GRCh37]
Chr22:22q13.1
likely benign
NM_001301130.2(POLR2F):c.293+6635del deletion Waardenburg syndrome type 2A [RCV000626400] Chr22:37973805 [GRCh38]
Chr22:38369812 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_001301130.2(POLR2F):c.294-8020del deletion Waardenburg syndrome type 2A [RCV000626401] Chr22:37978134 [GRCh38]
Chr22:38374141 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_006941.4(SOX10):c.424T>C (p.Trp142Arg) single nucleotide variant Rare genetic deafness [RCV000615378]|Waardenburg syndrome type 2E [RCV001290172] Chr22:37983361 [GRCh38]
Chr22:38379368 [GRCh37]
Chr22:22q13.1
pathogenic|likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q12.3-13.1(chr22:35674826-39466442)x3 copy number gain See cases [RCV000512385] Chr22:35674826..39466442 [GRCh37]
Chr22:22q12.3-13.1
likely pathogenic
NM_001301130.2(POLR2F):c.293+6632C>T single nucleotide variant not provided [RCV000512943] Chr22:37973802 [GRCh38]
Chr22:38369809 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_006941.3(SOX10):c.523C>T (p.Pro175Ser) single nucleotide variant Inborn genetic diseases [RCV000623200]|Waardenburg syndrome type 2E [RCV001290177] Chr22:37978041 [GRCh38]
Chr22:38374048 [GRCh37]
Chr22:22q13.1
pathogenic|likely pathogenic|uncertain significance
NM_001301130.2(POLR2F):c.293+6991del deletion not provided [RCV000627569] Chr22:37974161 [GRCh38]
Chr22:38370168 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_006941.3(SOX10):c.127C>T (p.Arg43Ter) single nucleotide variant Waardenburg syndrome type 2E [RCV001290165]|Waardenburg syndrome type 4C [RCV000660272] Chr22:37983658 [GRCh38]
Chr22:38379665 [GRCh37]
Chr22:22q13.1
pathogenic
NM_001301130.2(POLR2F):c.293+6792dup duplication Waardenburg syndrome type 4C [RCV000660284] Chr22:37973961..37973962 [GRCh38]
Chr22:38369968..38369969 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_001301130.2(POLR2F):c.293+6634dup duplication Waardenburg syndrome type 4C [RCV000660286] Chr22:37973800..37973801 [GRCh38]
Chr22:38369807..38369808 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_006941.3(SOX10):c.364C>G (p.Leu122Val) single nucleotide variant Waardenburg syndrome type 4C [RCV000660279] Chr22:37983421 [GRCh38]
Chr22:38379428 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_006941.3(SOX10):c.426G>C (p.Trp142Cys) single nucleotide variant Waardenburg syndrome type 4C [RCV000660281] Chr22:37983359 [GRCh38]
Chr22:38379366 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_006941.3(SOX10):c.586G>T (p.Glu196Ter) single nucleotide variant Waardenburg syndrome type 4C [RCV000660283] Chr22:37977978 [GRCh38]
Chr22:38373985 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_001301130.2(POLR2F):c.293+6519_293+6523del deletion Waardenburg syndrome type 4C [RCV000681523] Chr22:37973687..37973691 [GRCh38]
Chr22:38369694..38369698 [GRCh37]
Chr22:22q13.1
pathogenic
GRCh38/hg38 22q13.1(chr22:37805546-37983784)x1 copy number loss Waardenburg syndrome type 4C [RCV000721944] Chr22:37805546..37983784 [GRCh38]
Chr22:38201553..38379791 [GRCh37]
Chr22:22q13.1
pathogenic
NM_006941.4(SOX10):c.832A>G (p.Ile278Val) single nucleotide variant Hirschsprung disease [RCV000736047] Chr22:37974064 [GRCh38]
Chr22:38370071 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_006941.3(SOX10):c.1169C>G (p.Ser390Ter) single nucleotide variant Waardenburg syndrome type 2E [RCV000721948] Chr22:37973727 [GRCh38]
Chr22:38369734 [GRCh37]
Chr22:22q13.1
pathogenic
NM_006941.3(SOX10):c.415G>T (p.Gly139Cys) single nucleotide variant Waardenburg syndrome type 2E [RCV000721947] Chr22:37983370 [GRCh38]
Chr22:38379377 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_006941.3(SOX10):c.429-1G>A single nucleotide variant Waardenburg syndrome type 4A [RCV000722042] Chr22:37978136 [GRCh38]
Chr22:38374143 [GRCh37]
Chr22:22q13.1
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_006941.4(SOX10):c.267del (p.Met90fs) deletion Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV001542711] Chr22:37983518 [GRCh38]
Chr22:38379525 [GRCh37]
Chr22:22q13.1
pathogenic
NM_006941.3(SOX10):c.514A>T (p.Lys172Ter) single nucleotide variant not provided [RCV000760893] Chr22:37978050 [GRCh38]
Chr22:38374057 [GRCh37]
Chr22:22q13.1
pathogenic
NM_006941.4(SOX10):c.1315_1329del (p.Ile439_Ser443del) deletion Waardenburg syndrome type 4A [RCV000761189] Chr22:37973567..37973581 [GRCh38]
Chr22:38369574..38369588 [GRCh37]
Chr22:22q13.1
pathogenic
NM_006941.3(SOX10):c.373C>T (p.Gln125Ter) single nucleotide variant not provided [RCV000760743] Chr22:37983412 [GRCh38]
Chr22:38379419 [GRCh37]
Chr22:22q13.1
pathogenic
NM_006941.4(SOX10):c.1093G>C (p.Gly365Arg) single nucleotide variant not provided [RCV001572705] Chr22:37973803 [GRCh38]
Chr22:38369810 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_006941.3(SOX10):c.1037C>G (p.Ser346Ter) single nucleotide variant Charcot-Marie-Tooth disease [RCV000790227] Chr22:37973859 [GRCh38]
Chr22:38369866 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_006941.4(SOX10):c.745C>G (p.Leu249Val) single nucleotide variant not provided [RCV000997920] Chr22:37974151 [GRCh38]
Chr22:38370158 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_006941.4(SOX10):c.396T>C (p.Ala132=) single nucleotide variant not provided [RCV000997921] Chr22:37983389 [GRCh38]
Chr22:38379396 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_006941.4(SOX10):c.573C>T (p.Pro191=) single nucleotide variant not provided [RCV000906776] Chr22:37977991 [GRCh38]
Chr22:38373998 [GRCh37]
Chr22:22q13.1
likely benign
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33
pathogenic
NM_006941.4(SOX10):c.1352_1359dup (p.His454fs) duplication Waardenburg syndrome type 2E [RCV001290181]|not provided [RCV000993098] Chr22:37973536..37973537 [GRCh38]
Chr22:38369543..38369544 [GRCh37]
Chr22:22q13.1
pathogenic|likely pathogenic
NM_006941.4(SOX10):c.426G>T (p.Trp142Cys) single nucleotide variant Waardenburg syndrome type 2E [RCV000985243] Chr22:37983359 [GRCh38]
Chr22:38379366 [GRCh37]
Chr22:22q13.1
pathogenic
NM_006941.4(SOX10):c.993C>T (p.Ser331=) single nucleotide variant not provided [RCV000875421] Chr22:37973903 [GRCh38]
Chr22:38369910 [GRCh37]
Chr22:22q13.1
likely benign
NM_006941.4(SOX10):c.1082C>G (p.Ala361Gly) single nucleotide variant not provided [RCV000901185] Chr22:37973814 [GRCh38]
Chr22:38369821 [GRCh37]
Chr22:22q13.1
likely benign
NM_006941.4(SOX10):c.1077G>C (p.Glu359Asp) single nucleotide variant not provided [RCV000946167] Chr22:37973819 [GRCh38]
Chr22:38369826 [GRCh37]
Chr22:22q13.1
likely benign
NM_006941.4(SOX10):c.333C>T (p.Phe111=) single nucleotide variant not provided [RCV000930006] Chr22:37983452 [GRCh38]
Chr22:38379459 [GRCh37]
Chr22:22q13.1
likely benign
NM_006941.3(SOX10):c.354G>A (p.Ala118=) single nucleotide variant not provided [RCV000828318] Chr22:37983431 [GRCh38]
Chr22:38379438 [GRCh37]
Chr22:22q13.1
likely benign
NM_006941.3(SOX10):c.144A>C (p.Pro48=) single nucleotide variant not provided [RCV000840218] Chr22:37983641 [GRCh38]
Chr22:38379648 [GRCh37]
Chr22:22q13.1
likely benign
NM_006941.4(SOX10):c.1245G>A (p.Ser415=) single nucleotide variant not specified [RCV000825242] Chr22:37973651 [GRCh38]
Chr22:38369658 [GRCh37]
Chr22:22q13.1
likely benign
NM_006941.4(SOX10):c.274G>C (p.Val92Leu) single nucleotide variant Hearing impairment [RCV001375097]|Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV001146314]|Waardenburg syndrome [RCV001146313]|not provided [RCV000871484] Chr22:37983511 [GRCh38]
Chr22:38379518 [GRCh37]
Chr22:22q13.1
benign|likely benign|uncertain significance
NM_006941.3(SOX10):c.-84-6A>C single nucleotide variant not provided [RCV000838127] Chr22:37983874 [GRCh38]
Chr22:38379881 [GRCh37]
Chr22:22q13.1
likely benign
NM_006941.4(SOX10):c.768G>A (p.Pro256=) single nucleotide variant not provided [RCV000997919] Chr22:37974128 [GRCh38]
Chr22:38370135 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_006941.3(SOX10):c.-23C>T single nucleotide variant not provided [RCV000841868] Chr22:37983807 [GRCh38]
Chr22:38379814 [GRCh37]
Chr22:22q13.1
likely benign
NM_006941.4(SOX10):c.849C>T (p.His283=) single nucleotide variant not specified [RCV000825243] Chr22:37974047 [GRCh38]
Chr22:38370054 [GRCh37]
Chr22:22q13.1
likely benign
NM_006941.3(SOX10):c.604G>A (p.Ala202Thr) single nucleotide variant not provided [RCV000839752] Chr22:37977960 [GRCh38]
Chr22:38373967 [GRCh37]
Chr22:22q13.1
likely benign
NM_006941.4(SOX10):c.89C>A (p.Ser30Ter) single nucleotide variant Hypogonadism with anosmia [RCV001249445]|Waardenburg syndrome type 4C [RCV001170068]|not provided [RCV001092010] Chr22:37983696 [GRCh38]
Chr22:38379703 [GRCh37]
Chr22:22q13.1
pathogenic|not provided
NM_006941.4(SOX10):c.-9G>A single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV001150620]|Waardenburg syndrome [RCV001150621] Chr22:37983793 [GRCh38]
Chr22:38379800 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_006941.4(SOX10):c.1111G>A (p.Asp371Asn) single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV001148992]|Waardenburg syndrome [RCV001148991] Chr22:37973785 [GRCh38]
Chr22:38369792 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_006941.4(SOX10):c.428+2T>C single nucleotide variant Waardenburg syndrome type 2E [RCV000787014] Chr22:37983355 [GRCh38]
Chr22:38379362 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_006941.4(SOX10):c.482G>A (p.Arg161His) single nucleotide variant Waardenburg syndrome type 2E [RCV001095698]|not provided [RCV001555269] Chr22:37978082 [GRCh38]
Chr22:38374089 [GRCh37]
Chr22:22q13.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006941.4(SOX10):c.71C>A (p.Ser24Tyr) single nucleotide variant not specified [RCV000825458] Chr22:37983714 [GRCh38]
Chr22:38379721 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_006941.4(SOX10):c.135C>T (p.Ser45=) single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV001149118]|Waardenburg syndrome [RCV001149117] Chr22:37983650 [GRCh38]
Chr22:38379657 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_006941.4(SOX10):c.*27G>A single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV001146186]|Waardenburg syndrome [RCV001146185] Chr22:37973468 [GRCh38]
Chr22:38369475 [GRCh37]
Chr22:22q13.1
benign
NM_006941.4(SOX10):c.329C>T (p.Ala110Val) single nucleotide variant not provided [RCV000997922] Chr22:37983456 [GRCh38]
Chr22:38379463 [GRCh37]
Chr22:22q13.1
uncertain significance
GRCh37/hg19 22q13.1(chr22:38002218-38973070)x1 copy number loss not provided [RCV001007501] Chr22:38002218..38973070 [GRCh37]
Chr22:22q13.1
pathogenic
NM_006941.4(SOX10):c.404G>A (p.Ser135Asn) single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV001007915]|Waardenburg syndrome type 4C [RCV001262264] Chr22:37983381 [GRCh38]
Chr22:38379388 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_006941.4(SOX10):c.1160_1179dup (p.Ser394fs) duplication not provided [RCV001008958] Chr22:37973716..37973717 [GRCh38]
Chr22:38369723..38369724 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_006941.4(SOX10):c.775G>C (p.Asp259His) single nucleotide variant not provided [RCV001200454] Chr22:37974121 [GRCh38]
Chr22:38370128 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_006941.4(SOX10):c.979del (p.Ala327fs) deletion Waardenburg syndrome type 4C [RCV001199409] Chr22:37973917 [GRCh38]
Chr22:38369924 [GRCh37]
Chr22:22q13.1
likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_006941.4(SOX10):c.202T>C (p.Phe68Leu) single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV001149116]|Waardenburg syndrome [RCV001149115] Chr22:37983583 [GRCh38]
Chr22:38379590 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_006941.4(SOX10):c.-29A>G single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV001150622]|Waardenburg syndrome [RCV001150623] Chr22:37983813 [GRCh38]
Chr22:38379820 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_006941.4(SOX10):c.-166C>T single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV001144528]|Waardenburg syndrome [RCV001144529] Chr22:37984420 [GRCh38]
Chr22:38380427 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_006941.4(SOX10):c.1111G>T (p.Asp371Tyr) single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV001148990]|Waardenburg syndrome [RCV001148989] Chr22:37973785 [GRCh38]
Chr22:38369792 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_006941.4(SOX10):c.*327G>A single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV001146183]|Waardenburg syndrome [RCV001146184] Chr22:37973168 [GRCh38]
Chr22:38369175 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_006941.4(SOX10):c.825C>T (p.Asn275=) single nucleotide variant not provided [RCV001566801] Chr22:37974071 [GRCh38]
Chr22:38370078 [GRCh37]
Chr22:22q13.1
likely benign
NM_006941.4(SOX10):c.1091A>C (p.Gln364Pro) single nucleotide variant not provided [RCV001548477] Chr22:37973805 [GRCh38]
Chr22:38369812 [GRCh37]
Chr22:22q13.1
likely benign
NM_006941.4(SOX10):c.698-78A>G single nucleotide variant not provided [RCV001556976] Chr22:37974276 [GRCh38]
Chr22:38370283 [GRCh37]
Chr22:22q13.1
likely benign
NM_006941.4(SOX10):c.720C>T (p.Thr240=) single nucleotide variant not provided [RCV000907779] Chr22:37974176 [GRCh38]
Chr22:38370183 [GRCh37]
Chr22:22q13.1
likely benign
NM_006941.4(SOX10):c.600C>T (p.Thr200=) single nucleotide variant not provided [RCV000871801] Chr22:37977964 [GRCh38]
Chr22:38373971 [GRCh37]
Chr22:22q13.1
benign
NM_006941.4(SOX10):c.1082C>T (p.Ala361Val) single nucleotide variant not provided [RCV000951507] Chr22:37973814 [GRCh38]
Chr22:38369821 [GRCh37]
Chr22:22q13.1
benign
NM_006941.4(SOX10):c.723T>A (p.Pro241=) single nucleotide variant not provided [RCV000936848] Chr22:37974173 [GRCh38]
Chr22:38370180 [GRCh37]
Chr22:22q13.1
likely benign
NM_006941.4(SOX10):c.1029C>G (p.Pro343=) single nucleotide variant not provided [RCV000910790] Chr22:37973867 [GRCh38]
Chr22:38369874 [GRCh37]
Chr22:22q13.1
likely benign
NM_006941.4(SOX10):c.1080C>T (p.Thr360=) single nucleotide variant not provided [RCV000873275] Chr22:37973816 [GRCh38]
Chr22:38369823 [GRCh37]
Chr22:22q13.1
benign
NM_006941.4(SOX10):c.918C>T (p.His306=) single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV001150503]|Waardenburg syndrome [RCV001150502]|not provided [RCV000908897] Chr22:37973978 [GRCh38]
Chr22:38369985 [GRCh37]
Chr22:22q13.1
likely benign|uncertain significance
NM_006941.4(SOX10):c.1244C>T (p.Ser415Leu) single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV001146187]|Waardenburg syndrome [RCV001146188] Chr22:37973652 [GRCh38]
Chr22:38369659 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_006941.4(SOX10):c.911A>G (p.Asn304Ser) single nucleotide variant not provided [RCV001557031] Chr22:37973985 [GRCh38]
Chr22:38369992 [GRCh37]
Chr22:22q13.1
likely benign
NM_006941.4(SOX10):c.429-19G>A single nucleotide variant not provided [RCV001549764] Chr22:37978154 [GRCh38]
Chr22:38374161 [GRCh37]
Chr22:22q13.1
likely benign
NM_006941.4(SOX10):c.621_622dup (p.Lys208fs) duplication not provided [RCV001009154] Chr22:37977941..37977942 [GRCh38]
Chr22:38373948..38373949 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_006941.4(SOX10):c.479T>C (p.Leu160Pro) single nucleotide variant Waardenburg syndrome type 2E [RCV001170065] Chr22:37978085 [GRCh38]
Chr22:38374092 [GRCh37]
Chr22:22q13.1
pathogenic
NM_006941.4(SOX10):c.1155_1174dup (p.Phe392fs) duplication Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV001170066] Chr22:37973721..37973722 [GRCh38]
Chr22:38369728..38369729 [GRCh37]
Chr22:22q13.1
pathogenic
NM_006941.4(SOX10):c.1379del (p.Tyr460fs) deletion Waardenburg syndrome type 2E [RCV001170069] Chr22:37973517 [GRCh38]
Chr22:38369524 [GRCh37]
Chr22:22q13.1
pathogenic
NM_006941.4(SOX10):c.125_132del (p.Leu42fs) deletion Anosmia [RCV001004805] Chr22:37983653..37983660 [GRCh38]
Chr22:38379660..38379667 [GRCh37]
Chr22:22q13.1
pathogenic
NM_006941.4(SOX10):c.207_208del (p.Cys71fs) deletion Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV001093609]   pathogenic
NM_006941.4(SOX10):c.*830G>C single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV001150393]|Waardenburg syndrome [RCV001150392] Chr22:37972665 [GRCh38]
Chr22:38368672 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_006941.4(SOX10):c.*568T>A single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV001144296]|Waardenburg syndrome [RCV001144297] Chr22:37972927 [GRCh38]
Chr22:38368934 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_006941.4(SOX10):c.628G>A (p.Ala210Thr) single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV001144418]|Waardenburg syndrome [RCV001144417] Chr22:37977936 [GRCh38]
Chr22:38373943 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_006941.4(SOX10):c.718A>C (p.Thr240Pro) single nucleotide variant Waardenburg syndrome type 4C [RCV001198128] Chr22:37974178 [GRCh38]
Chr22:38370185 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_006941.4(SOX10):c.976G>A (p.Val326Met) single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV001148993]|Waardenburg syndrome [RCV001148994] Chr22:37973920 [GRCh38]
Chr22:38369927 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_006941.4(SOX10):c.941C>A (p.Ser314Ter) single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV001253528] Chr22:37973955 [GRCh38]
Chr22:38369962 [GRCh37]
Chr22:22q13.1
pathogenic
NM_006941.4(SOX10):c.1165G>A (p.Gly389Ser) single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV001328562] Chr22:37973731 [GRCh38]
Chr22:38369738 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_006941.4(SOX10):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV001268393] Chr22:37983784 [GRCh38]
Chr22:38379791 [GRCh37]
Chr22:22q13.1
likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_006941.4(SOX10):c.348G>A (p.Gln116=) single nucleotide variant not provided [RCV001568296] Chr22:37983437 [GRCh38]
Chr22:38379444 [GRCh37]
Chr22:22q13.1
likely benign
NM_006941.4(SOX10):c.644G>A (p.Arg215Gln) single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV001267837] Chr22:37977920 [GRCh38]
Chr22:38373927 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_006941.4(SOX10):c.7G>T (p.Glu3Ter) single nucleotide variant Waardenburg syndrome type 2E [RCV001290164] Chr22:37983778 [GRCh38]
Chr22:38379785 [GRCh37]
Chr22:22q13.1
pathogenic
NM_006941.4(SOX10):c.1081G>A (p.Ala361Thr) single nucleotide variant Waardenburg syndrome type 4C [RCV001262265] Chr22:37973815 [GRCh38]
Chr22:38369822 [GRCh37]
Chr22:22q13.1
likely benign
NM_006941.4(SOX10):c.341G>A (p.Trp114Ter) single nucleotide variant Waardenburg syndrome type 2E [RCV001290170] Chr22:37983444 [GRCh38]
Chr22:38379451 [GRCh37]
Chr22:22q13.1
pathogenic
NM_006941.4(SOX10):c.502del (p.His168fs) deletion Waardenburg syndrome type 2E [RCV001290176] Chr22:37978062 [GRCh38]
Chr22:38374069 [GRCh37]
Chr22:22q13.1
pathogenic
NM_006941.4(SOX10):c.1063C>T (p.Gln355Ter) single nucleotide variant Waardenburg syndrome type 2E [RCV001290179] Chr22:37973833 [GRCh38]
Chr22:38369840 [GRCh37]
Chr22:22q13.1
pathogenic
GRCh37/hg19 22q13.1(chr22:38155164-38541997) copy number loss Waardenburg syndrome type 2E [RCV001290182] Chr22:38155164..38541997 [GRCh37]
Chr22:22q13.1
pathogenic
NM_006941.4(SOX10):c.335T>G (p.Met112Arg) single nucleotide variant Waardenburg syndrome type 2E [RCV001290169] Chr22:37983450 [GRCh38]
Chr22:38379457 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_006941.4(SOX10):c.428+1G>A single nucleotide variant Waardenburg syndrome type 2E [RCV001290173] Chr22:37983356 [GRCh38]
Chr22:38379363 [GRCh37]
Chr22:22q13.1
pathogenic
NM_006941.4(SOX10):c.448A>T (p.Lys150Ter) single nucleotide variant Waardenburg syndrome type 2E [RCV001290174] Chr22:37978116 [GRCh38]
Chr22:38374123 [GRCh37]
Chr22:22q13.1
pathogenic
NM_006941.4(SOX10):c.326A>G (p.Asn109Ser) single nucleotide variant Waardenburg syndrome type 2E [RCV001290168] Chr22:37983459 [GRCh38]
Chr22:38379466 [GRCh37]
Chr22:22q13.1
pathogenic
NM_006941.4(SOX10):c.323T>C (p.Met108Thr) single nucleotide variant Waardenburg syndrome type 2E [RCV001290167] Chr22:37983462 [GRCh38]
Chr22:38379469 [GRCh37]
Chr22:22q13.1
pathogenic
NM_006941.4(SOX10):c.776_780del (p.Asp259fs) deletion Waardenburg syndrome type 2E [RCV001290178] Chr22:37974116..37974120 [GRCh38]
Chr22:38370123..38370127 [GRCh37]
Chr22:22q13.1
pathogenic
NM_006941.4(SOX10):c.1400A>T (p.Ter467Leu) single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV001376161] Chr22:37973496 [GRCh38]
Chr22:38369503 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_006941.4(SOX10):c.570C>A (p.Cys190Ter) single nucleotide variant Waardenburg syndrome type 4C [RCV001375372] Chr22:37977994 [GRCh38]
Chr22:38374001 [GRCh37]
Chr22:22q13.1
pathogenic
NM_006941.4(SOX10):c.386T>C (p.Leu129Pro) single nucleotide variant Waardenburg syndrome type 2E [RCV001290171] Chr22:37983399 [GRCh38]
Chr22:38379406 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_006941.4(SOX10):c.1195C>T (p.Gln399Ter) single nucleotide variant Waardenburg syndrome type 2E [RCV001290180] Chr22:37973701 [GRCh38]
Chr22:38369708 [GRCh37]
Chr22:22q13.1
pathogenic
NM_006941.4(SOX10):c.181G>A (p.Gly61Ser) single nucleotide variant Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease [RCV001328563] Chr22:37983604 [GRCh38]
Chr22:38379611 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_006941.4(SOX10):c.463G>T (p.Glu155Ter) single nucleotide variant Waardenburg syndrome type 2E [RCV001290175] Chr22:37978101 [GRCh38]
Chr22:38374108 [GRCh37]
Chr22:22q13.1
pathogenic
NM_006941.4(SOX10):c.198_262del (p.Lys67fs) deletion Waardenburg syndrome type 2E [RCV001353099] Chr22:37983523..37983587 [GRCh38]
Chr22:38379530..38379594 [GRCh37]
Chr22:22q13.1
pathogenic
NM_006941.4(SOX10):c.529_556del (p.Arg177fs) deletion Waardenburg syndrome type 2E [RCV001353100] Chr22:37978008..37978035 [GRCh38]
Chr22:38374015..38374042 [GRCh37]
Chr22:22q13.1
pathogenic
NM_006941.4(SOX10):c.-84-124A>T single nucleotide variant not provided [RCV001540335] Chr22:37983992 [GRCh38]
Chr22:38379999 [GRCh37]
Chr22:22q13.1
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11190 AgrOrtholog
COSMIC SOX10 COSMIC
Ensembl Genes ENSG00000100146 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000354130 UniProtKB/Swiss-Prot
  ENSP00000380093 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000399777 UniProtKB/TrEMBL
  ENSP00000414853 UniProtKB/TrEMBL
  ENSP00000498686 UniProtKB/TrEMBL
Ensembl Transcript ENST00000360880 UniProtKB/Swiss-Prot
  ENST00000396884 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000427770 UniProtKB/TrEMBL
  ENST00000446929 UniProtKB/TrEMBL
  ENST00000651746 UniProtKB/TrEMBL
Gene3D-CATH 1.10.30.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000100146 GTEx
HGNC ID HGNC:11190 ENTREZGENE
Human Proteome Map SOX10 Human Proteome Map
InterPro HMG_box_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HMG_box_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sox_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6663 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6663 ENTREZGENE
OMIM 602229 OMIM
  609136 OMIM
  611584 OMIM
  613266 OMIM
Pfam HMG_box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sox_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36027 PharmGKB
PROSITE HMG_BOX_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HMG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47095 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R1N6 ENTREZGENE, UniProtKB/TrEMBL
  A0A494C0R1_HUMAN UniProtKB/TrEMBL
  A6PVD3_HUMAN UniProtKB/TrEMBL
  H0Y5N4_HUMAN UniProtKB/TrEMBL
  P56693 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B4DV62 UniProtKB/Swiss-Prot
  Q6FHW7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-06-18 SOX10  SRY-box transcription factor 10  SOX10  SRY-box 10  Symbol and/or name change 5135510 APPROVED
2015-12-01 SOX10  SRY-box 10    SRY box 10  Symbol and/or name change 5135510 APPROVED
2015-11-10 SOX10  SRY box 10    SRY (sex determining region Y)-box 10  Symbol and/or name change 5135510 APPROVED
2011-08-16 SOX10  SRY (sex determining region Y)-box 10  SOX10  SRY (sex determining region Y)-box 10  Symbol and/or name change 5135510 APPROVED