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
Disease Browser
Parent Node:
expand
Ataxia (D001259)
Parent Node:
expand
Epilepsy (D004827)
Parent Node:
expand
Genetic Diseases, X-Linked (D040181)
Parent Node:
expand
Intellectual Disability (D008607)
Parent Node:
expand
Microcephaly (D008831)
Parent Node:
expand
Ocular Motility Disorders (D015835)
..Starting node
..expand
Mental Retardation, X-Linked, Syndromic, Christianson Type (C567484)

       Child Nodes:



 Sister Nodes: 
..expandAthabaskan brainstem dysgenesis (C535397)
..expandDiffuse Lewy Body Disease with Gaze Palsy (C565077)
..expandDuane Retraction Syndrome (D004370) Child2
..expandFibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement (C567572)
..expandFibrosis of Extraocular Muscles, Congenital, 3B (C567739)
..expandFibrosis of Extraocular Muscles, Congenital, 3C (C567666)
..expandFibrosis of Extraocular Muscles, Congenital, with Synergistic Divergence (C566508)
..expandJoubert syndrome 3 (C536295)
..expandJoubert syndrome 5 (C537688)
..expandJoubert syndrome 6 (C537689)
..expandJoubert Syndrome 7 (C566916)
..expandLevator-Medial Rectus Synkinesis (C563625)
..expandMental Retardation, X-Linked, Syndromic, Christianson Type (C567484)
..expandMiller Fisher Syndrome (D019846)
..expandNEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET (OMIM:617145)
..expandNystagmus, Pathologic (D009759) Child25
..expandOculomotor Nerve Diseases (D015840) Child4
..expandOphthalmoplegia (D009886) Child41  LSDB C:9
..expandOpsoclonus-Myoclonus Syndrome (D053578) Child1
..expandParoxysmal Tonic Upgaze, Benign Childhood, With Ataxia (C566817)
..expandSetting-Sun Phenomenon, Familial Benign (C563470)
..expandStrabismus (D013285) Child13
..expandTolosa-Hunt Syndrome (D020333) Child1
..expandTukel syndrome (C536925)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:7801
Name:Mental Retardation, X-Linked, Syndromic, Christianson Type
Definition:
Alternative IDs:DO:DOID:0060825|OMIM:300243
ParentIDs:MESH:D001259|MESH:D004827|MESH:D008607|MESH:D008831|MESH:D015835|MESH:D040181
TreeNumbers:C05.660.207.620/C567484 |C10.228.140.490/C567484 |C10.228.758/C567484 |C10.292.562/C567484 |C10.500.507.400.500/C567484 |C10.597.350.090/C567484 |C10.597.606.360/C567484 |C11.590/C567484 |C16.131.621.207.620/C567484 |C16.131.666.507.400.500/C567484 |C16.320.322/C5
Synonyms:Angelman-Like Syndrome, X-Linked |Christianson Syndrome |Intellectual Deficit, X-Linked, South African Type |Mental Retardation, Microcephaly, Epilepsy, and Ataxia Syndrome |MRXSCH
Slim Mappings:Congenital abnormality|Eye disease|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C567484
MeSH: C567484
OMIM: 300243;
MSeqDR LSDB:  
Genes: SLC9A6;
Phenotypes
1 HP:0001423X-linked dominant inheritance
2 HP:0001760Abnormality of the foot
3 HP:0001344Absent speech
4 HP:0001181Adducted thumb
5 HP:0002607Bowel incontinence
6 HP:0001272Cerebellar atrophy
7 HP:0004325Decreased body weight
8 HP:0002307Drooling
9 HP:0002015Dysphagia
NAMDC:  Dysphagia
10 HP:0001371Flexion contracture
11 HP:0001290Generalized hypotonia
12 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
13 HP:0001263Global developmental delay
NAMDC:  Mental retardation
14 HP:0040082Happy demeanor
15 HP:0002487Hyperkinesis
16 HP:0006887Intellectual disability, progressive
17 HP:0010864Intellectual disability, severe
18 HP:0000276Long face
19 HP:0003189Long nose
20 HP:0006794Loss of ability to walk in first decade
21 HP:0000400Macrotia
22 HP:0000303Mandibular prognathia
23 HP:0000252Microcephaly
24 HP:0002300Mutism
25 HP:0000774Narrow chest
26 HP:0000275Narrow face
27 HP:0002529Neuronal loss in central nervous system
28 HP:0000194Open mouth
29 HP:0000602Ophthalmoplegia
30 HP:0007207Photosensitive tonic-clonic seizures
31 HP:0003202Skeletal muscle atrophy
32 HP:0002360Sleep disturbance
33 HP:0001238Slender finger
34 HP:0000486Strabismus
35 HP:0000574Thick eyebrow
36 HP:0002078Truncal ataxia
37 HP:0000020Urinary incontinence
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000023.11:g.(?_135985483)_(136024503_?)dup10479SLC9A6Uncertain significance-1RCV001032238; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067642135106662nana-1-
NM_001042537.1(SLC9A6):c.1A>G (p.Met1Val)10479SLC9A6Uncertain significance-1RCV001058825; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067662135067662AGX:g.135067662A>G-
NM_001042537.1(SLC9A6):c.7C>T (p.Arg3Trp)10479SLC9A6Uncertain significancers1556614701RCV000813836; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067668135067668CTX:g.135067668C>T-
NM_001042537.1(SLC9A6):c.8G>T (p.Arg3Leu)10479SLC9A6Uncertain significancers1016216648RCV000694032; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067669135067669GTX:g.135067669G>T-C2678194 300243 Christianson syndrome;
NM_006359.3(SLC9A6):c.25G>T (p.Ala9Ser)10479SLC9A6Benign/Likely benignrs201523857RCV000147542|RCV000224732|RCV000462225|RCV000715111; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MedGen:C2711754X135067686135067686GTX:g.135067686G>TClinGen:CA295170C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.-56-21C>A10479SLC9A6Uncertain significance-1RCV001209614; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067741135067741CAX:g.135067741C>A-
NM_006359.3(SLC9A6):c.141C>T (p.Gly47=)10479SLC9A6Conflicting interpretations of pathogenicityrs139299794RCV000213002|RCV000724400|RCV001078789; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067802135067802CTX:g.135067802C>TClinGen:CA293620CN169374 not specified;
NM_006359.3(SLC9A6):c.148G>T (p.Ala50Ser)10479SLC9A6Likely benignrs367724979RCV000189416|RCV000865182; NMedGen:CN169374|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067809135067809GTX:g.135067809G>TClinGen:CA318535CN169374 not specified;
NM_001379110.1(SLC9A6):c.13A>C (p.Ile5Leu)10479SLC9A6Uncertain significance-1RCV001238532; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067830135067830ACX:g.135067830A>C-
NM_006359.3(SLC9A6):c.171C>G (p.Ile57Met)10479SLC9A6Conflicting interpretations of pathogenicityrs782296172RCV000433575|RCV001088949; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067832135067832CGX:g.135067832C>GClinGen:CA10524605C2678194 300243 Christianson syndrome;
NM_001042537.1(SLC9A6):c.183del (p.Lys61fs)10479SLC9A6Pathogenicrs587784398RCV000147540; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067844135067844AGAX:g.135067844_135067844delClinGen:CA173495
NM_001042537.1(SLC9A6):c.227_244del (p.Ile76_Leu81del)10479SLC9A6Uncertain significancers1603184929RCV000808896; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067881135067898CCTGCTCATCTTCATCCTGCX:g.135067881_135067898del-
NM_001042537.1(SLC9A6):c.269T>C (p.Leu90Pro)10479SLC9A6Uncertain significancers1556614843RCV000533095; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067930135067930TCX:g.135067930T>CClinGen:CA414606885C2678194 300243 Christianson syndrome;
NM_001042537.1(SLC9A6):c.362A>G (p.His121Arg)10479SLC9A6Uncertain significancers1060502675RCV000474987; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135076981135076981AGX:g.135076981A>GClinGen:CA16616449
NM_001042537.1(SLC9A6):c.367C>T (p.Pro123Ser)10479SLC9A6Uncertain significancers587784400RCV000147543; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135076986135076986CTX:g.135076986C>TClinGen:CA173498
NM_001042537.1(SLC9A6):c.369G>A (p.Pro123=)10479SLC9A6Likely benignrs782600941RCV000920546; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135076988135076988GAX:g.135076988G>A-
NM_006359.3(SLC9A6):c.412A>G (p.Ser138Gly)10479SLC9A6Uncertain significancers587784401RCV000147544; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135077031135077031AGX:g.135077031A>GClinGen:CA173500
NM_001042537.1(SLC9A6):c.549T>G (p.Phe183Leu)10479SLC9A6Uncertain significancers1603198044RCV000802213; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080290135080290TGX:g.135080290T>G-
NM_006359.3(SLC9A6):c.478_479AT[1] (p.Phe161fs)10479SLC9A6Pathogenicrs1603198063RCV000770998; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080315135080316CATCX:g.135080315_135080316del-
NM_001042537.1(SLC9A6):c.581A>G (p.Tyr194Cys)10479SLC9A6Uncertain significancers1556616834RCV000543846; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080322135080322AGX:g.135080322A>GClinGen:CA414749819C2678194 300243 Christianson syndrome;
NM_001042537.1(SLC9A6):c.603+3_603+4delinsCC10479SLC9A6Pathogenicrs730882187RCV000012233; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080347135080348AACCNC_000023.10:g.135080347_135080348delinsCCClinGen:CA121511,OMIM:300231.0003
NM_001042537.1(SLC9A6):c.604A>G (p.Arg202Gly)10479SLC9A6Uncertain significancers796053280RCV000189406|RCV001229044; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080641135080641AGX:g.135080641A>GClinGen:CA318515CN169374 not specified;
NM_001042537.1(SLC9A6):c.608_609del (p.His203fs)10479SLC9A6Pathogenicrs730882188RCV000012234; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080645135080646CATCX:g.135080645_135080646delClinGen:CA121512,OMIM:300231.0004C2678194 300243 Christianson syndrome;
NM_006359.3(SLC9A6):c.534T>C (p.Ser178=)10479SLC9A6Benignrs144316388RCV000128150|RCV000231992|RCV000717664; NMedGen:CN169374|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MedGen:C2711754X135080667135080667TCX:g.135080667T>CClinGen:CA293611C2678194 300243 Christianson syndrome;
NM_001042537.1(SLC9A6):c.639A>G (p.Ala213=)10479SLC9A6Uncertain significancers781961294RCV000813072; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080676135080676AGX:g.135080676A>G-
NM_001042537.1(SLC9A6):c.643G>A (p.Ala215Thr)10479SLC9A6Uncertain significancers796053281RCV000189407|RCV001051665; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080680135080680GAX:g.135080680G>AClinGen:CA318518CN169374 not specified;
NM_001379110.1(SLC9A6):c.506T>A (p.Ile169Asn)10479SLC9A6Uncertain significance-1RCV001270374; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080699135080699TAX:g.135080699T>A-
NM_006359.3(SLC9A6):c.576C>T (p.Phe192=)10479SLC9A6Likely benignrs1423014570RCV000554011|RCV000609426; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MedGen:CN169374X135080709135080709CTX:g.135080709C>TClinGen:CA518744234C2678194 300243 Christianson syndrome;
NM_001042537.1(SLC9A6):c.680+3A>G10479SLC9A6Conflicting interpretations of pathogenicityrs372679456RCV000993018|RCV001202051; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080720135080720AGX:g.135080720A>G-
NM_001042537.1(SLC9A6):c.685A>G (p.Ile229Val)10479SLC9A6Uncertain significancers587784402RCV000147545; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135081019135081019AGX:g.135081019A>GClinGen:CA173502
NM_001379110.1(SLC9A6):c.548C>T (p.Thr183Met)10479SLC9A6Uncertain significance-1RCV001212192|RCV001251651; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human PhenX135081038135081038CTX:g.135081038C>T-
NM_001042537.1(SLC9A6):c.705G>A (p.Thr235=)10479SLC9A6Likely benignrs782386487RCV000929323; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135081039135081039GAX:g.135081039G>A-
NM_001042537.1(SLC9A6):c.715G>A (p.Val239Ile)10479SLC9A6Uncertain significancers1556616995RCV000697166; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135081049135081049GAX:g.135081049G>A-
NM_001042537.1(SLC9A6):c.808A>G (p.Ile270Val)10479SLC9A6Uncertain significancers782677140RCV000800387; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135084281135084281AGX:g.135084281A>G-
NM_001042537.1(SLC9A6):c.847_849CTT[1] (p.Leu284del)10479SLC9A6Likely pathogenicrs1603201557RCV000990950; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135084320135084322ACTTAX:g.135084320_135084322del-
NM_001042537.1(SLC9A6):c.860_865del (p.Glu287_Ser288del)10479SLC9A6Pathogenicrs886037619RCV000012231; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135084330135084335GGTGAAAGX:g.135084330_135084335delClinGen:CA10602351,OMIM:300231.0001
NM_001042537.1(SLC9A6):c.882del (p.Ala295fs)10479SLC9A6Pathogenicrs1057519394RCV000417039; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135084354135084354GTGX:g.135084354_135084354delClinGen:CA16044365C2678194 300243 Christianson syndrome;
NM_001042537.1(SLC9A6):c.899+1G>A10479SLC9A6Pathogenic/Likely pathogenicrs1556617455RCV000498280|RCV000792492; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135084373135084373GAX:g.135084373G>AClinGen:CA414750658
NM_006359.3(SLC9A6):c.804-6C>T10479SLC9A6Benignrs17001258RCV000147546|RCV000473826; NMedGen:CN169374|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135092595135092595CTX:g.135092595C>TClinGen:CA295173C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.821T>C (p.Ile274Thr)10479SLC9A6Uncertain significance-1RCV001270393; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135092678135092678TCX:g.135092678T>C-
NM_001042537.1(SLC9A6):c.1012_1020del (p.Gly338_Ala340del)10479SLC9A6Pathogenicrs398122849RCV000022841; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135092713135092721GGGTGCTGCTGX:g.135092713_135092721delClinGen:CA128786,OMIM:300231.0005C2678194 300243 Christianson syndrome;
NM_001042537.1(SLC9A6):c.1042G>A (p.Val348Met)10479SLC9A6Uncertain significancers1556618832RCV000532326; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095108135095108GAX:g.135095108G>AClinGen:CA414751479C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.971C>T (p.Ala324Val)10479SLC9A6Uncertain significance-1RCV001222469; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095193135095193CTX:g.135095193C>T-
NM_001379110.1(SLC9A6):c.992-3T>C10479SLC9A6Uncertain significance-1RCV001245424; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095505135095505TCX:g.135095505T>C-
NM_001042537.1(SLC9A6):c.1148G>A (p.Gly383Asp)10479SLC9A6Pathogenicrs782108464RCV001004677; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095508135095508GAX:g.135095508G>A-
NM_006359.3(SLC9A6):c.1089A>C (p.Ala363=)10479SLC9A6Benignrs142049079RCV000147536|RCV000475960|RCV000715100; NMedGen:CN169374|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MedGen:C2711754X135095545135095545ACX:g.135095545A>CClinGen:CA295164C2678194 300243 Christianson syndrome;
NM_001042537.1(SLC9A6):c.1236+80dup10479SLC9A6Benignrs35492327RCV000990951; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095664135095665TTAX:g.135095664_135095665insA-
NM_001042537.1(SLC9A6):c.1237-8C>T10479SLC9A6Likely benignrs1060504684RCV000473803; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135098796135098796CTX:g.135098796C>TClinGen:CA16616616
NM_006359.3(SLC9A6):c.1143G>A (p.Leu381=)10479SLC9A6Conflicting interpretations of pathogenicityrs151178361RCV000594833|RCV000720971|RCV001083801; NMedGen:CN517202|MedGen:C2711754|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135098806135098806GAX:g.135098806G>AClinGen:CA10524772
NM_001042537.1(SLC9A6):c.1299_1300del (p.Phe434fs)10479SLC9A6Pathogenic/Likely pathogenicrs1064793575RCV000482382|RCV001004015|RCV001251111; NMedGen:CN517202|6 conditions|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135098865135098866CTGCX:g.135098865_135098866delClinGen:CA16621205CN517202 not provided;
NM_001042537.1(SLC9A6):c.1320C>T (p.Val440=)10479SLC9A6Likely benignrs1556619315RCV000555538; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135098887135098887CTX:g.135098887C>TClinGen:CA518753566
NM_001379110.1(SLC9A6):c.1246_1249del (p.Leu416fs)10479SLC9A6Pathogenic-1RCV001221608; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135104792135104795TCTTATX:g.135104792_135104795del-
NM_001042537.1(SLC9A6):c.1463-1G>A10479SLC9A6Pathogenicrs1603215383RCV000845288; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135106488135106488GAX:g.135106488G>A-
NM_001042537.1(SLC9A6):c.1472G>A (p.Gly491Asp)10479SLC9A6Likely pathogenicrs1569525357RCV000700654; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135106498135106498GAX:g.135106498G>A-
NM_001042537.1(SLC9A6):c.1498C>T (p.Arg500Ter)10479SLC9A6Pathogenicrs122461162RCV000012232|RCV000627211; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MedGen:CN517202X135106524135106524CTX:g.135106524C>TClinGen:CA121507,OMIM:300231.0002C2678194 300243 Christianson syndrome;
NM_001042537.1(SLC9A6):c.1584C>T (p.Gly528=)10479SLC9A6Uncertain significancers782370742RCV000525320; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135106610135106610CTX:g.135106610C>TClinGen:CA10524813C2678194 300243 Christianson syndrome;
NM_006359.3(SLC9A6):c.1520+4A>G10479SLC9A6Benignrs180727016RCV000081395|RCV000715070|RCV000990952; NMedGen:CN169374|MedGen:C2711754|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135106646135106646AGX:g.135106646A>GClinGen:CA285658C2678194 300243 Christianson syndrome;
NM_006359.3(SLC9A6):c.1520+6T>C10479SLC9A6Benign/Likely benignrs781963949RCV000605891|RCV000981713; NMedGen:CN169374|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135106648135106648TCX:g.135106648T>CClinGen:CA336248940CN169374 not specified;
NM_006359.3(SLC9A6):c.1520+10A>G10479SLC9A6Benignrs185533973RCV000128156|RCV000463980; NMedGen:CN169374|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135106652135106652AGX:g.135106652A>GClinGen:CA293617C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.1555G>A (p.Gly519Ser)10479SLC9A6Uncertain significance-1RCV001213237; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135112295135112295GAX:g.135112295G>A-
NM_001042537.1(SLC9A6):c.1639G>T (p.Glu547Ter)10479SLC9A6Pathogenicrs398123003RCV000077787; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135112313135112313GTX:g.135112313G>TClinGen:CA145508,OMIM:300231.0006C2678194 300243 Christianson syndrome;
NM_006359.3(SLC9A6):c.1552-3C>T10479SLC9A6Benignrs563279759RCV000194620|RCV000540036; NMedGen:CN169374|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135115570135115570CTX:g.135115570C>TClinGen:CA208905C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.1582G>A (p.Gly528Ser)10479SLC9A6Uncertain significance-1RCV001223382; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135115573135115573GAX:g.135115573G>A-
NM_006359.3(SLC9A6):c.1569_1573del (p.Arg524fs)10479SLC9A6Pathogenicrs1603219805RCV000995874; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135115588135115592TGAAAGTX:g.135115588_135115592del-
NM_006359.3(SLC9A6):c.1607G>A (p.Arg536Gln)10479SLC9A6Benign/Likely benignrs146263125RCV000174756|RCV000223989|RCV000715113|RCV001080901|RCV001251650; NMedGen:CN169374|MedGen:CN517202|MedGen:C2711754|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:000128X135115628135115628GAX:g.135115628G>AClinGen:CA302758C2678194 300243 Christianson syndrome;
NM_006359.3(SLC9A6):c.1632-4G>A10479SLC9A6Benignrs188072063RCV000147538|RCV000228298|RCV000715119|RCV000857967; NMedGen:CN169374|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MedGen:C2711754|MedGen:CN517202X135122231135122231GAX:g.135122231G>AClinGen:CA173494C2678194 300243 Christianson syndrome;
NM_006359.3(SLC9A6):c.1659C>T (p.Ser553=)10479SLC9A6Benign/Likely benignrs2307131RCV000147539|RCV000460704|RCV000715078; NMedGen:CN169374|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MedGen:C2711754X135122262135122262CTX:g.135122262C>TClinGen:CA295167C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.1727G>A (p.Gly576Glu)10479SLC9A6Uncertain significance-1RCV001233445; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135122300135122300GAX:g.135122300G>A-
NM_001379110.1(SLC9A6):c.1832C>T (p.Thr611Ile)10479SLC9A6Uncertain significance-1RCV001237236; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126675135126675CTX:g.135126675C>T-
NM_006359.3(SLC9A6):c.1803A>T (p.Thr601=)10479SLC9A6Likely benignrs782629258RCV000720372|RCV000871440; NMedGen:C2711754|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126676135126676ATX:g.135126676A>T-
NM_001042537.1(SLC9A6):c.1939A>G (p.Ser647Gly)10479SLC9A6Uncertain significancers558960349RCV000646195; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126716135126716AGX:g.135126716A>GClinGen:CA336249943
NM_001042537.1(SLC9A6):c.2000T>G (p.Phe667Cys)10479SLC9A6Uncertain significance-1RCV001035156; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126777135126777TGX:g.135126777T>G-
NM_001379110.1(SLC9A6):c.1996C>T (p.Pro666Ser)10479SLC9A6Uncertain significance-1RCV001216484; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126839135126839CTX:g.135126839C>T-
NM_001042537.1(SLC9A6):c.2078T>G (p.Leu693Ter)10479SLC9A6Pathogenicrs587784399RCV000147541; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126855135126855TGX:g.135126855T>GClinGen:CA173496
NM_006359.3(SLC9A6):c.*8A>T10479SLC9A6Conflicting interpretations of pathogenicityrs200171451RCV000128162|RCV000715114|RCV000861304|RCV001251649; NMedGen:CN169374|MedGen:C2711754|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human PhenotypX135126891135126891ATX:g.135126891A>TClinGen:CA293619CN169374 not specified;
MSeqDR Portal