MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:9713
Name:Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
Definition:
Alternative IDs:OMIM:609136
ParentIDs:MESH:D006627|MESH:D011115|MESH:D014849|MESH:D020271
TreeNumbers:C06.198.439/C563789 |C06.405.469.158.701.439/C563789 |C10.574.500/C563789 |C10.668.829.800/C563789 |C16.131.077.938/C563789 |C16.131.314.439/C563789 |C16.320.400/C563789
Synonyms:PCWH |Waardenburg-Shah Syndrome, Neurologic Variant
Slim Mappings:Congenital abnormality|Digestive system disease|Genetic disease (inborn)|Nervous system disease
Reference: MedGen: C563789
MeSH: C563789
OMIM: 609136;
MSeqDR LSDB:  
Genes: CACNA2D4; SOX10;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0002271Autonomic dysregulation
3 HP:0004463Absent brainstem auditory responses
4 HP:0000522Alacrima
5 HP:0000458Anosmia
6 HP:0001284Areflexia
7 HP:0001251Ataxia
8 HP:0007266Cerebral dysmyelination
9 HP:0000028Cryptorchidism
10 HP:0000762Decreased nerve conduction velocity
11 HP:0007108Demyelinating peripheral neuropathy
NAMDC:  Neuropathy demyelinating
12 HP:0003693Distal amyotrophy
13 HP:0002460Distal muscle weakness
NAMDC:  Muscle weakness: distal
14 HP:0002936Distal sensory impairment
15 HP:0006978Dysmyelinating leukodystrophy
16 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
17 HP:0001263Global developmental delay
NAMDC:  Mental retardation
18 HP:0001100Heterochromia iridis
19 HP:0001053Hypopigmented skin patches
20 HP:0011382Hypoplasia of the semicircular canal
21 HP:0001265Hyporeflexia
22 HP:0001249Intellectual disability
23 HP:0011285Long-segment aganglionic megacolon
24 HP:0004336Myelin outfoldings
25 HP:0001319Neonatal hypotonia
NAMDC:  Floppy baby
26 HP:0000639Nystagmus
27 HP:0011096Peripheral demyelination
28 HP:0007182Peripheral hypomyelination
29 HP:0001761Pes cavus
30 HP:0000407Sensorineural hearing impairment
NAMDC:  Sensorineural hearing loss
31 HP:0002313Spastic paraparesis
32 HP:0002510Spastic tetraplegia
33 HP:0002226White eyebrow
34 HP:0002227White eyelashes
35 HP:0002211White forelock
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_006941.4(SOX10):c.*1179G>A6663SOX10Uncertain significancers749495956RCV000319634|RCV000374257; NMONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746|MONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500, Orphanet:3440223836832338368323CTNC_000022.10:g.38368323C>TClinGen:CA10651296C1836727 609136 Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease;
NM_006941.4(SOX10):c.*1084TC[1]6663SOX10Likely benignrs577740783RCV000293927|RCV000348868; NMONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500, Orphanet:3440|MONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746223836841538368416GGAGNC_000022.10:g.38368415GA[1]ClinGen:CA10653490C1836727 609136 Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease;
NM_006941.4(SOX10):c.*932G>A6663SOX10Likely benignrs8141371RCV000296102|RCV000389456; NMONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500, Orphanet:3440|MONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746223836857038368570CTNC_000022.10:g.38368570C>TClinGen:CA10651297C1836727 609136 Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease;
NM_006941.4(SOX10):c.*830G>C6663SOX10Uncertain significancers1932094243RCV001150392|RCV001150393; NMONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500, Orphanet:3440|MONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746223836867238368672CG22:g.38368672C>G-
NM_006941.4(SOX10):c.*712G>T6663SOX10Uncertain significancers377420828RCV000343997|RCV000389931; NMONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746|MONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500, Orphanet:3440223836879038368790CANC_000022.10:g.38368790C>AClinGen:CA10653492C1836727 609136 Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease;
NM_006941.4(SOX10):c.*711C>T6663SOX10Benignrs60962899RCV000308864|RCV000347411; NMONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500, Orphanet:3440|MONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746223836879138368791GANC_000022.10:g.38368791G>AClinGen:CA10653493C1836727 609136 Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease;
NM_006941.4(SOX10):c.*643A>G6663SOX10Uncertain significancers886057493RCV000302876|RCV000407546; NMONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746|MONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500, Orphanet:3440223836885938368859TCNC_000022.10:g.38368859T>CClinGen:CA10653494C1836727 609136 Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease;
NM_006941.4(SOX10):c.*568T>A6663SOX10Uncertain significancers1226122613RCV001144297|RCV001144296; NMONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500, Orphanet:3440|MONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746223836893438368934AT22:g.38368934A>T-
NM_006941.4(SOX10):c.*537G>C6663SOX10Benignrs565069012RCV000360067|RCV000407568; NMONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746|MONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500, Orphanet:3440223836896538368965CGNC_000022.10:g.38368965C>GClinGen:CA10654119C1836727 609136 Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease;
NM_006941.4(SOX10):c.*475G>A6663SOX10Benignrs139883RCV000296837|RCV000354094; NMONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500, Orphanet:3440|MONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746223836902738369027CTNC_000022.10:g.38369027C>TClinGen:CA10654120C1836727 609136 Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease;
NM_006941.4(SOX10):c.*327G>A6663SOX10Uncertain significancers1473316530RCV001146184|RCV001146183; NMONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500, Orphanet:3440|MONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746223836917538369175CT22:g.38369175C>T-
NM_006941.4(SOX10):c.*158A>G6663SOX10Uncertain significancers886057494RCV000261745|RCV000319216; NMONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746|MONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500, Orphanet:3440223836934438369344TCNC_000022.10:g.38369344T>CClinGen:CA10654121C1836727 609136 Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease;
NM_006941.4(SOX10):c.*27G>A6663SOX10Benignrs563902004RCV001146185|RCV001146186; NMONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500, Orphanet:3440|MONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746223836947538369475CT22:g.38369475C>T-
NM_006941.4(SOX10):c.1400_*10del (p.Ter467Xaa)6663SOX10Likely pathogenicrs397515368RCV000007824; NMONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746223836949238369503CAGGGCCCCCTTTC22:g.38369492_38369503delClinGen:CA118765,OMIM:602229.0008C1836727 609136 Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease;
NM_006941.4(SOX10):c.1400A>T (p.Ter467Leu)6663SOX10Likely pathogenic-1RCV001376161; NMONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746223836950338369503TA38369503-
NM_006941.4(SOX10):c.1244C>T (p.Ser415Leu)6663SOX10Uncertain significancers1348367862RCV001146187|RCV001146188; NMONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746|MONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500, Orphanet:3440223836965938369659GA22:g.38369659G>A-
NM_006941.4(SOX10):c.1155_1174dup (p.Phe392fs)6663SOX10Pathogenicrs1932131665RCV001170066; NMONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746223836972838369729AAAGGCTGAGCCATAGTGGGGC22:g.38369728_38369729insAGGCTGAGCCATAGTGGGGC-
NM_006941.4(SOX10):c.1165G>A (p.Gly389Ser)6663SOX10Uncertain significancers1397403248RCV001328562; NMONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746223836973838369738CT38369738-
NM_006941.4(SOX10):c.1127C>G (p.Ser376Ter)6663SOX10Likely pathogenicrs483353058RCV000119813; NMONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746223836977638369776GC22:g.38369776G>CClinGen:CA156405C1836727 609136 Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease;
NM_006941.4(SOX10):c.1111G>T (p.Asp371Tyr)6663SOX10Uncertain significancers551334981RCV001148989|RCV001148990; NMONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500, Orphanet:3440|MONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746223836979238369792CA22:g.38369792C>A-
NM_006941.4(SOX10):c.1111G>A (p.Asp371Asn)6663SOX10Uncertain significancers551334981RCV001148992|RCV001148991; NMONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746|MONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500, Orphanet:3440223836979238369792CT22:g.38369792C>T-
NM_006941.4(SOX10):c.976G>A (p.Val326Met)6663SOX10Uncertain significancers750224655RCV001148993|RCV001148994; NMONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746|MONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500, Orphanet:3440223836992738369927CT22:g.38369927C>T-
NM_006941.4(SOX10):c.975C>T (p.Ala325=)6663SOX10Likely benignrs760496644RCV000608041|RCV001148996|RCV001148995; NMedGen:CN169374|MONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746|MONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500, Orphanet:3440223836992838369928GA22:g.38369928G>AClinGen:CA10228558CN169374 not specified;
NM_006941.4(SOX10):c.966dup (p.Ala323fs)6663SOX10Pathogenic-1RCV001799540; NMONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746223836993638369937CCA38369936-
NM_006941.4(SOX10):c.941C>A (p.Ser314Ter)6663SOX10Pathogenicrs1932142815RCV001253528; NMONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746223836996238369962GT22:g.38369962G>T-
NM_006941.4(SOX10):c.939C>G (p.Tyr313Ter)6663SOX10Pathogenicrs74315516RCV000007822; NMONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746223836996438369964GC22:g.38369964G>CClinGen:CA118759,OMIM:602229.0006C1836727 609136 Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease;
NM_006941.4(SOX10):c.927T>C (p.His309=)6663SOX10Benignrs139884RCV000218215|RCV000276693|RCV000368913|RCV001510332|RCV001808575|RCV001808576; NMedGen:CN169374|MONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500, Orphanet:3440|MONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746|MedGen:CN517202|MONDO:MONDO:0013202,MedGen:C2750452,OMIM:613266, Orphanet:897|MONDO:MONDO:0012698,MedGen:C2700223836997638369976AGNC_000022.10:g.38369976A>GClinGen:CA10228566CN169374 not specified;
NM_006941.4(SOX10):c.918C>T (p.His306=)6663SOX10Conflicting interpretations of pathogenicityrs200226880RCV000908897|RCV001150502|RCV001150503; NMedGen:CN517202|MONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500, Orphanet:3440|MONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746223836998538369985GA22:g.38369985G>A-
NM_006941.4(SOX10):c.915del (p.His306fs)6663SOX10Pathogenicrs397515372RCV000007837; NMONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746223836998838369988GCG22:g.38369988_38369988delClinGen:CA118785,OMIM:602229.0020C1836727 609136 Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease;
NM_006941.4(SOX10):c.906G>A (p.Pro302=)6663SOX10Uncertain significancers774324385RCV000333976|RCV000381610; NMONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746|MONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500, Orphanet:3440223836999738369997CTNC_000022.10:g.38369997C>TClinGen:CA10228571C1836727 609136 Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease;
NM_006941.4(SOX10):c.850G>T (p.Glu284Ter)6663SOX10Likely pathogenic-1RCV001799541; NMONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746223837005338370053CA38370053-
NM_006941.4(SOX10):c.822C>T (p.Gly274=)6663SOX10Benign/Likely benignrs147334218RCV000220513|RCV000871208|RCV001144415|RCV001144416; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500, Orphanet:3440|MONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746223837008138370081GANC_000022.10:g.38370081G>AClinGen:CA10228578CN169374 not specified;
NM_006941.4(SOX10):c.797del (p.Gly266fs)6663SOX10Conflicting interpretations of pathogenicityrs397515371RCV000007836|RCV000789612; NMONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166223837010638370106GCGNC_000022.10:g.38370108delClinGen:CA118784,OMIM:602229.0019C1836727 609136 Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease;
NM_006941.4(SOX10):c.778G>A (p.Gly260Arg)6663SOX10Uncertain significance-1RCV001762017|RCV001885119; NMONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746|MedGen:CN517202223837012538370125CT38370125-
NM_006941.4(SOX10):c.753G>A (p.Ser251=)6663SOX10Conflicting interpretations of pathogenicityrs376907937RCV000289683|RCV000328321|RCV000616999|RCV000728071; NMONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500, Orphanet:3440|MONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746|MedGen:CN169374|MedGen:CN517202223837015038370150CTNC_000022.10:g.38370150C>TClinGen:CA10228593CN169374 not specified;
NM_006941.4(SOX10):c.752C>A (p.Ser251Ter)6663SOX10Pathogenicrs74315518RCV000007823; NMONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746223837015138370151GT22:g.38370151G>TClinGen:CA118762,OMIM:602229.0007C1836727 609136 Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease;
NM_006941.4(SOX10):c.748C>T (p.Gln250Ter)6663SOX10Pathogenicrs74315521RCV000007828; NMONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746223837015538370155GA22:g.38370155G>AClinGen:CA118772,OMIM:602229.0011C1836727 609136 Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease;
NM_006941.4(SOX10):c.746T>A (p.Leu249Gln)6663SOX10Uncertain significancers886057495RCV000283875|RCV000385265; NMONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746|MONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500, Orphanet:3440223837015738370157ATNC_000022.10:g.38370157A>TClinGen:CA10653495C1836727 609136 Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease;
NM_006941.4(SOX10):c.644G>A (p.Arg215Gln)6663SOX10Uncertain significancers779933527RCV001267837; NMONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746; MONDO:MONDO:0012698,MedGen:C2700405,OMIM:611584, Orphanet:3440223837392738373927CT22:g.38373927C>T-
NM_006941.4(SOX10):c.628G>A (p.Ala210Thr)6663SOX10Uncertain significancers774135262RCV001144417|RCV001144418; NMONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500, Orphanet:3440|MONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746223837394338373943CT22:g.38373943C>T-
NM_006941.4(SOX10):c.585C>T (p.Ala195=)6663SOX10Uncertain significancers751780784RCV000340670|RCV000399912; NMONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746|MONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500, Orphanet:3440223837398638373986GANC_000022.10:g.38373986G>AClinGen:CA10228649C1836727 609136 Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease;
NM_006941.4(SOX10):c.507G>A (p.Pro169=)6663SOX10Benign/Likely benignrs199703563RCV000287308|RCV000335304|RCV000876764; NMONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500, Orphanet:3440|MONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746|MedGen:CN517202223837406438374064CTNC_000022.10:g.38374064C>TClinGen:CA10228667C1836727 609136 Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease;
NM_006941.4(SOX10):c.429-12A>G6663SOX10Benignrs753723642RCV000300181|RCV000407688; NMONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746|MONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500, Orphanet:3440223837415438374154TCNC_000022.10:g.38374154T>CClinGen:CA10228672C1836727 609136 Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease;
NM_006941.4(SOX10):c.428+10C>G6663SOX10Benign/Likely benignrs201638602RCV000213874|RCV000357254|RCV000407694|RCV000838600; NMedGen:CN169374|MONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746|MONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500, Orphanet:3440|MedGen:CN517202223837935438379354GC22:g.38379354G>CClinGen:CA10228684CN169374 not specified;
NM_006941.4(SOX10):c.425G>C (p.Trp142Ser)6663SOX10Pathogenicrs886039664RCV001170070; NMONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746223837936738379367CG22:g.38379367C>G-
NM_006941.4(SOX10):c.404G>A (p.Ser135Asn)6663SOX10Pathogenic/Likely pathogenicrs74315515RCV001007915|RCV001262264; NMONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746|MONDO:MONDO:0013202,MedGen:C2750452,OMIM:613266, Orphanet:897223837938838379388CT22:g.38379388C>T-
NM_006941.4(SOX10):c.395C>G (p.Ala132Gly)6663SOX10Pathogenic-1RCV001799539; NMONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746223837939738379397GC38379397-
NM_006941.4(SOX10):c.334A>G (p.Met112Val)6663SOX10Uncertain significancers1555939439RCV000660278|RCV000765648; NMONDO:MONDO:0013202,MedGen:C2750452,OMIM:613266, Orphanet:897|MONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746; MONDO:MONDO:0012698,MedGen:C2700405,OMIM:611584, Orphanet:3440; MONDO:MONDO:0013202,MedGen:C2750452,OMIM:613266, Orphanet:897223837945838379458TC22:g.38379458T>C-C2750452 613266 Waardenburg syndrome type 4C;
NM_006941.4(SOX10):c.274G>C (p.Val92Leu)6663SOX10Conflicting interpretations of pathogenicityrs142113652RCV000871484|RCV001146314|RCV001146313|RCV001375097; NMedGen:CN517202|MONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746|MONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500, Orphanet:3440|Human Phenotype Ontology:HP:0000365,Human Phenotype Ontology:HP:0000404,Human Phenotype Ontology:HP:0001728,H223837951838379518CG22:g.38379518C>G-
NM_006941.4(SOX10):c.267del (p.Met90fs)6663SOX10Pathogenic-1RCV001775033|RCV001542711; NMONDO:MONDO:0008670,MedGen:C1847800,OMIM:193500, Orphanet:894|MONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746223837952538379525TGT38379524-
NM_006941.4(SOX10):c.249C>T (p.Tyr83=)6663SOX10Benign/Likely benignrs73415876RCV000220081|RCV000312275|RCV000369250|RCV000431231; NMedGen:CN169374|MONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746|MONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500, Orphanet:3440|MedGen:CN517202223837954338379543GA22:g.38379543G>AClinGen:CA10228704CN517202 not provided;
NM_006941.4(SOX10):c.207_208del (p.Cys71fs)6663SOX10Pathogenicrs1932469753RCV001093609; NMONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746223837958438379585ACGANC_000022.10:g.38379584_38379585del-
NM_006941.4(SOX10):c.202T>C (p.Phe68Leu)6663SOX10Uncertain significancers1932470433RCV001149115|RCV001149116; NMONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500, Orphanet:3440|MONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746223837959038379590AG22:g.38379590A>G-
NM_006941.4(SOX10):c.181G>A (p.Gly61Ser)6663SOX10Uncertain significancers866240813RCV001328563; NMONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746223837961138379611CT38379611-
NM_006941.4(SOX10):c.135C>T (p.Ser45=)6663SOX10Uncertain significancers1569171316RCV001149118|RCV001149117; NMONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746|MONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500, Orphanet:3440223837965738379657GA22:g.38379657G>A-
NM_006941.4(SOX10):c.131C>G (p.Ala44Gly)6663SOX10Conflicting interpretations of pathogenicityrs747377284RCV000519667|RCV000767097|RCV001149119|RCV001149120; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500, Orphanet:3440|MONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746223837966138379661GC22:g.38379661G>CClinGen:CA10228723CN169374 not specified;
NM_006941.4(SOX10):c.122G>T (p.Gly41Val)6663SOX10Benign/Likely benignrs199750760RCV000277103|RCV000325156|RCV000613610|RCV000877144; NMONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746|MONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500, Orphanet:3440|MedGen:CN169374|MedGen:CN517202223837967038379670CANC_000022.10:g.38379670C>AClinGen:CA10228725CN169374 not specified;
NM_006941.4(SOX10):c.18C>T (p.Asp6=)6663SOX10Benignrs149435516RCV000215751|RCV000271237|RCV000363264|RCV000993099; NMedGen:CN169374|MONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500, Orphanet:3440|MONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746|MedGen:CN517202223837977438379774GA22:g.38379774G>AClinGen:CA10228732CN169374 not specified;
NM_006941.4(SOX10):c.-9G>A6663SOX10Uncertain significancers1237344324RCV001150620|RCV001150621; NMONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746|MONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500, Orphanet:3440223837980038379800CT22:g.38379800C>T-
NM_006941.4(SOX10):c.-29A>G6663SOX10Uncertain significancers761658024RCV001150622|RCV001150623; NMONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746|MONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500, Orphanet:3440223837982038379820TC22:g.38379820T>C-
NM_006941.4(SOX10):c.-63A>G6663SOX10Uncertain significancers886057496RCV000328593|RCV000376226; NMONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500, Orphanet:3440|MONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746223837985438379854TCNC_000022.10:g.38379854T>CClinGen:CA10654122C1836727 609136 Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease;
NM_006941.4(SOX10):c.-166C>T6663SOX10Uncertain significancers548479592RCV001144528|RCV001144529; NMONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136, Orphanet:163746|MONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500, Orphanet:3440223838042738380427GA22:g.38380427G>A-
MSeqDR Portal