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
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Ataxia (D001259)
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Epilepsy (D004827)
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Genetic Diseases, X-Linked (D040181)
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Intellectual Disability (D008607)
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Microcephaly (D008831)
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Ocular Motility Disorders (D015835)
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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_001379110.1(SLC9A6):c.-57+26A>G10479SLC9A6Uncertain significancers782640388RCV001058825|RCV001374987; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926X135067662135067662AGX:g.135067662A>G-
NC_000023.10:g.(?_135067662)_(135068006_?)dup10479SLC9A6Uncertain significance-1RCV001942982; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067662135068006nana-1-
NM_001379110.1(SLC9A6):c.-57+27T>G10479SLC9A6Uncertain significancers1006154022RCV000433846|RCV001507050; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067663135067663TGX:g.135067663T>GClinGen:CA16608696CN517202 not provided;
NM_001379110.1(SLC9A6):c.-57+30C>T10479SLC9A6Uncertain significancers1334602422RCV000762672|RCV001855958; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067666135067666CTNC_000023.10:g.135067666C>T-
NM_001379110.1(SLC9A6):c.-57+32C>T10479SLC9A6Uncertain significancers1556614701RCV000813836; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067668135067668CTX:g.135067668C>T-
NM_001379110.1(SLC9A6):c.-57+33G>T10479SLC9A6Uncertain significancers1016216648RCV000694032; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067669135067669GTX:g.135067669G>T-C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.-57+34G>C10479SLC9A6Likely benign-1RCV001499423; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067670135067670GC135067670-
NM_001379110.1(SLC9A6):c.-57+50G>T10479SLC9A6Benignrs201523857RCV000147542|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.-57+50G>C10479SLC9A6Uncertain significancers201523857RCV001331523; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067686135067686GC135067686-
NM_001379110.1(SLC9A6):c.-57+52A>G10479SLC9A6Likely benign-1RCV002090688; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067688135067688AG135067688-
NM_001379110.1(SLC9A6):c.-57+53C>T10479SLC9A6Uncertain significance-1RCV002035174; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067689135067689CT135067689-
NM_001379110.1(SLC9A6):c.-57+62C>T10479SLC9A6Uncertain significancers1556614725RCV001344185; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067698135067698CT135067698-
NM_001379110.1(SLC9A6):c.-56-43C>G10479SLC9A6Uncertain significance-1RCV001988798; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067719135067719CG135067719-
NM_001379110.1(SLC9A6):c.-56-36G>A10479SLC9A6Uncertain significance-1RCV002024102; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067726135067726GA135067726-
NM_001379110.1(SLC9A6):c.-56-35C>G10479SLC9A6Benign-1RCV002132206; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067727135067727CG135067727-
NM_001379110.1(SLC9A6):c.-56-32G>A10479SLC9A6Likely benign-1RCV002177530; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067730135067730GA135067730-
NM_001379110.1(SLC9A6):c.-56-31C>T10479SLC9A6Uncertain significance-1RCV001975690; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067731135067731CT135067731-
NM_001379110.1(SLC9A6):c.-56-25C>G10479SLC9A6Conflicting interpretations of pathogenicityrs782396686RCV000189404|RCV001857654; NMedGen:CN169374|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067737135067737CGX:g.135067737C>GClinGen:CA318510CN169374 not specified;
NM_001379110.1(SLC9A6):c.-56-21C>A10479SLC9A6Uncertain significancers782242879RCV001209614; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067741135067741CAX:g.135067741C>A-
NM_001379110.1(SLC9A6):c.-56-4G>T10479SLC9A6Uncertain significance-1RCV001372571; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067758135067758GT135067758-
NM_001379110.1(SLC9A6):c.-20G>A10479SLC9A6Uncertain significancers782736274RCV000494024|RCV001507028; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067798135067798GAX:g.135067798G>AClinGen:CA10524597CN169374 not specified;
NM_001379110.1(SLC9A6):c.-19C>A10479SLC9A6Likely benign-1RCV001427997; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067799135067799CA135067799-
NM_001379110.1(SLC9A6):c.-16C>T10479SLC9A6Conflicting 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_001379110.1(SLC9A6):c.-9G>T10479SLC9A6Likely benignrs367724979RCV000865182|RCV001721224; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MedGen:CN517202X135067809135067809GTX:g.135067809G>TClinGen:CA318535CN169374 not specified;
NM_001379110.1(SLC9A6):c.-4A>G10479SLC9A6Benignrs782090744RCV000419289|RCV000646196|RCV001507040; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067814135067814AGX:g.135067814A>GClinGen:CA10524601C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.-1C>T10479SLC9A6Likely benign-1RCV001400757; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067817135067817CT135067817-
NM_001379110.1(SLC9A6):c.13A>C (p.Ile5Leu)10479SLC9A6Uncertain significancers1556614802RCV001238532; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067830135067830ACX:g.135067830A>C-
NM_001379110.1(SLC9A6):c.15C>G (p.Ile5Met)10479SLC9A6Likely benignrs782296172RCV000433575|RCV001088949; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067832135067832CGX:g.135067832C>GClinGen:CA10524605C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.22G>C (p.Glu8Gln)10479SLC9A6Uncertain significance-1RCV001981862; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067839135067839GC135067839-
NM_001379110.1(SLC9A6):c.27del (p.Lys9fs)10479SLC9A6Pathogenicrs587784398RCV000147540; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067844135067844AGANC_000023.10:g.135067844delGClinGen:CA173495C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.57C>T (p.Ser19=)10479SLC9A6Benign/Likely benignrs781963863RCV001521806|RCV001703570; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MedGen:CN517202X135067874135067874CTX:g.135067874C>TClinGen:CA10524610CN169374 not specified;
NM_001379110.1(SLC9A6):c.71_88del (p.Ile24_Leu29del)10479SLC9A6Uncertain significancers1603184929RCV000808896; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067881135067898CCTGCTCATCTTCATCCTGCX:g.135067881_135067898del-
NM_001379110.1(SLC9A6):c.66G>A (p.Leu22=)10479SLC9A6Likely benign-1RCV001411205; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067883135067883GA135067883-
NM_001379110.1(SLC9A6):c.75C>T (p.Phe25=)10479SLC9A6Likely benign-1RCV002162468; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067892135067892CT135067892-
NM_001379110.1(SLC9A6):c.81G>A (p.Leu27=)10479SLC9A6Conflicting interpretations of pathogenicity-1RCV001481702|RCV001762696; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MedGen:CN517202X135067898135067898GA135067898-
NM_001379110.1(SLC9A6):c.90C>T (p.Thr30=)10479SLC9A6Likely benign-1RCV002156477; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067907135067907CT135067907-
NM_001379110.1(SLC9A6):c.113T>C (p.Leu38Pro)10479SLC9A6Uncertain significancers1556614843RCV000533095; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067930135067930TCX:g.135067930T>CClinGen:CA414606885C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.168T>C (p.Tyr56=)10479SLC9A6Likely benign-1RCV001391706; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067985135067985TC135067985-
NM_001379110.1(SLC9A6):c.169+14C>G10479SLC9A6Likely benignrs1556614871RCV000612479|RCV002063108; NMedGen:CN169374|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135068000135068000CGX:g.135068000C>GClinGen:CA658799867CN169374 not specified;
NM_001379110.1(SLC9A6):c.170G>T (p.Gly57Val)10479SLC9A6Uncertain significance-1RCV001917519; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135076945135076945GT135076945-
NM_001379110.1(SLC9A6):c.206A>G (p.His69Arg)10479SLC9A6Uncertain significancers1060502675RCV000474987; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135076981135076981AGNC_000023.10:g.135076981A>GClinGen:CA16616449C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.211C>T (p.Pro71Ser)10479SLC9A6Uncertain significancers587784400RCV000147543; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135076986135076986CTNC_000023.10:g.135076986C>TClinGen:CA173498C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.212C>T (p.Pro71Leu)10479SLC9A6Uncertain significance-1RCV001362877; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135076987135076987CT135076987-
NM_001379110.1(SLC9A6):c.213G>A (p.Pro71=)10479SLC9A6Likely benignrs782600941RCV000920546; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135076988135076988GAX:g.135076988G>A-
NM_001379110.1(SLC9A6):c.220G>A (p.Val74Ile)10479SLC9A6Benign-1RCV002194334; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135076995135076995GA135076995-
NM_001379110.1(SLC9A6):c.228T>C (p.Asn76=)10479SLC9A6Likely benignrs782529317RCV000468100|RCV001474069; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135077003135077003TCNC_000023.10:g.135077003T>CClinGen:CA10524644C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.233C>A (p.Thr78Asn)10479SLC9A6Uncertain significance-1RCV001894327; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135077008135077008CA135077008-
NM_001379110.1(SLC9A6):c.239G>A (p.Ser80Asn)10479SLC9A6Uncertain significance-1RCV001370795; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135077014135077014GA135077014-
NM_001379110.1(SLC9A6):c.256A>G (p.Ser86Gly)10479SLC9A6Uncertain significancers587784401RCV000147544; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135077031135077031AGNC_000023.10:g.135077031A>GClinGen:CA173500C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.261A>G (p.Pro87=)10479SLC9A6Likely benign-1RCV002196075; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135077036135077036AG135077036-
NM_001379110.1(SLC9A6):c.262A>G (p.Thr88Ala)10479SLC9A6Uncertain significancers372003999RCV000520347|RCV001300841; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135077037135077037AGX:g.135077037A>GClinGen:CA10524646CN169374 not specified;
NM_001379110.1(SLC9A6):c.290A>G (p.Lys97Arg)10479SLC9A6Likely benign-1RCV002090658; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135077065135077065AG135077065-
NM_001379110.1(SLC9A6):c.370-9_370-5del10479SLC9A6Conflicting interpretations of pathogenicityrs796053290RCV000189417|RCV000240849|RCV000224024; NMedGen:CN169374|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 Phenotype Ontology:HP:00X135080254135080258CTTTATCX:g.135080254_135080258delClinGen:CA318538,OMIM:300231.0007C2678194 300243 Christianson syndrome;
NC_000023.10:g.(?_135080257)_(135292184_?)dup10479SLC9A6Uncertain significance-1RCV001339208; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080257135292184nana-1-
NM_001379110.1(SLC9A6):c.370-3C>T10479SLC9A6Uncertain significance-1RCV001888411; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080264135080264CT135080264-
NM_001379110.1(SLC9A6):c.370G>T (p.Val124Phe)10479SLC9A6Uncertain significance-1RCV002018407; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080267135080267GT135080267-
NM_001379110.1(SLC9A6):c.372T>A (p.Val124=)10479SLC9A6Likely benign-1RCV001436629; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080269135080269TA135080269-
NM_001379110.1(SLC9A6):c.393T>G (p.Phe131Leu)10479SLC9A6Uncertain significancers1603198044RCV000802213; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080290135080290TGX:g.135080290T>G-
NM_001379110.1(SLC9A6):c.400A>G (p.Ile134Val)10479SLC9A6Uncertain significance-1RCV001899205; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080297135080297AG135080297-
NM_001379110.1(SLC9A6):c.420_421del (p.Phe141fs)10479SLC9A6Pathogenicrs1603198063RCV000770998; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080315135080316CATCX:g.135080315_135080316del-
NM_001379110.1(SLC9A6):c.425A>G (p.Tyr142Cys)10479SLC9A6Uncertain significancers1556616834RCV000543846; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080322135080322AGX:g.135080322A>GClinGen:CA414749819C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.447+3_447+4delinsCC10479SLC9A6Pathogenicrs730882187RCV000012233; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080347135080348AACCNC_000023.10:g.135080347_135080348delinsCCClinGen:CA121511,OMIM:300231.0003C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.447+20A>C10479SLC9A6Likely benign-1RCV002194502; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080364135080364AC135080364-
NM_001379110.1(SLC9A6):c.448-6dup10479SLC9A6Benign-1RCV001536470|RCV001810086; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080623135080624CCT135080623-
NM_001379110.1(SLC9A6):c.448-7_448-6dup10479SLC9A6Benign-1RCV001658705|RCV002073031; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080623135080624CCTT135080623-
NM_001379110.1(SLC9A6):c.448-6del10479SLC9A6Benignrs375038684RCV000322967|RCV002059160; NMedGen:CN169374|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080624135080624CTCX:g.135080624_135080624delClinGen:CA10524670CN169374 not specified;
NM_001379110.1(SLC9A6):c.448-9_448-8insC10479SLC9A6Likely benign-1RCV001485146; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080632135080633TTC135080632-
NM_001379110.1(SLC9A6):c.448-8_448-7insG10479SLC9A6Likely benign-1RCV001426204; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080633135080634TTG135080633-
NM_001379110.1(SLC9A6):c.448-1G>A10479SLC9A6Pathogenicrs797044508RCV000153971|RCV001507037; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080640135080640GAX:g.135080640G>AClinGen:CA180441C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.448A>G (p.Arg150Gly)10479SLC9A6Uncertain significancers796053280RCV000189406|RCV001229044; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080641135080641AGX:g.135080641A>GClinGen:CA318515CN169374 not specified;
NM_001379110.1(SLC9A6):c.452_453del (p.His151fs)10479SLC9A6Pathogenicrs730882188RCV000012234; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080645135080646CATCX:g.135080645_135080646delClinGen:CA121512,OMIM:300231.0004C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.452A>T (p.His151Leu)10479SLC9A6Conflicting interpretations of pathogenicityrs796053275RCV000189401|RCV001342805; NMedGen:CN169374|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080645135080645ATX:g.135080645A>TClinGen:CA318501CN169374 not specified;
NM_001379110.1(SLC9A6):c.461G>A (p.Arg154Gln)10479SLC9A6Uncertain significancers782262088RCV001313713; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080654135080654GA135080654-
NM_001379110.1(SLC9A6):c.471G>A (p.Gly157=)10479SLC9A6Likely benign-1RCV001430645; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080664135080664GA135080664-
NM_001379110.1(SLC9A6):c.471G>T (p.Gly157=)10479SLC9A6Likely benign-1RCV002215587; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080664135080664GT135080664-
NM_001379110.1(SLC9A6):c.474T>C (p.Ser158=)10479SLC9A6Benignrs144316388RCV000128150|RCV000231992|RCV000717664; NMedGen:CN169374|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MedGen:C2711754X135080667135080667TCX:g.135080667T>CClinGen:CA293611C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.483A>G (p.Ala161=)10479SLC9A6Uncertain significancers781961294RCV000813072; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080676135080676AGX:g.135080676A>G-
NM_001379110.1(SLC9A6):c.487G>A (p.Ala163Thr)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.504A>G (p.Ala168=)10479SLC9A6Likely benign-1RCV001408950; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080697135080697AG135080697-
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_001379110.1(SLC9A6):c.516C>T (p.Phe172=)10479SLC9A6Uncertain significancers1423014570RCV000554011|RCV000609426; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MedGen:CN169374X135080709135080709CTX:g.135080709C>TClinGen:CA518744234C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.517G>A (p.Val173Ile)10479SLC9A6Likely benignrs782117973RCV000871818|RCV002065336; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080710135080710GAX:g.135080710G>AClinGen:CA10524682CN169374 not specified;
NM_001379110.1(SLC9A6):c.524+3A>G10479SLC9A6Conflicting interpretations of pathogenicityrs372679456RCV000993018|RCV001202051; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080720135080720AGX:g.135080720A>G-
NM_001379110.1(SLC9A6):c.524+8_524+12del10479SLC9A6Likely benign-1RCV002125767; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080723135080727GTATTTG135080722-
NM_001379110.1(SLC9A6):c.525G>A (p.Gly175=)10479SLC9A6Uncertain significance-1RCV001369847; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135081015135081015GA135081015-
NM_001379110.1(SLC9A6):c.529A>G (p.Ile177Val)10479SLC9A6Uncertain significancers587784402RCV000147545; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135081019135081019AGNC_000023.10:g.135081019A>GClinGen:CA173502C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.534G>A (p.Met178Ile)10479SLC9A6Uncertain significance-1RCV001872197; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135081024135081024GA135081024-
NM_001379110.1(SLC9A6):c.548C>T (p.Thr183Met)10479SLC9A6Uncertain significancers782759179RCV001212192|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_001379110.1(SLC9A6):c.549G>A (p.Thr183=)10479SLC9A6Likely benignrs782386487RCV000929323; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135081039135081039GAX:g.135081039G>A-
NM_001379110.1(SLC9A6):c.559G>A (p.Val187Ile)10479SLC9A6Uncertain significancers1556616995RCV000697166; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135081049135081049GANC_000023.10:g.135081049G>A-C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.563C>T (p.Thr188Met)10479SLC9A6Uncertain significancers372747388RCV000189421|RCV001370517; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135081053135081053CTX:g.135081053C>TClinGen:CA318544CN169374 not specified;
NM_001379110.1(SLC9A6):c.564G>A (p.Thr188=)10479SLC9A6Conflicting interpretations of pathogenicity-1RCV001511059|RCV001581164; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MedGen:CN517202X135081054135081054GA135081054-
NM_001379110.1(SLC9A6):c.594A>G (p.Thr198=)10479SLC9A6Likely benign-1RCV001417226; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135081084135081084AG135081084-
NM_001379110.1(SLC9A6):c.603A>G (p.Leu201=)10479SLC9A6Likely benignrs1060504685RCV000467529|RCV001453308; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135081093135081093AGNC_000023.10:g.135081093A>GClinGen:CA16616615C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.630T>C (p.Thr210=)10479SLC9A6Likely benign-1RCV001464704; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135081120135081120TC135081120-
NM_001379110.1(SLC9A6):c.634C>G (p.Pro212Ala)10479SLC9A6Uncertain significance-1RCV001360212|RCV001751705; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MedGen:CN517202X135081124135081124CG135081124-
NM_001379110.1(SLC9A6):c.637+12del10479SLC9A6Likely benign-1RCV002204603; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135081139135081139TAT135081138-
NM_001379110.1(SLC9A6):c.638-10dup10479SLC9A6Benign-1RCV002117795; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135084252135084253CCT135084252-
NM_001379110.1(SLC9A6):c.638-8C>T10479SLC9A6Likely benign-1RCV001424896; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135084259135084259CT135084259-
NM_001379110.1(SLC9A6):c.638-5A>G10479SLC9A6Conflicting interpretations of pathogenicityrs1057520615RCV000432454|RCV000715130|RCV001504630; NMedGen:CN169374|MedGen:C2711754|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135084262135084262AGX:g.135084262A>GClinGen:CA16608280CN169374 not specified;
NM_001379110.1(SLC9A6):c.638-1G>A10479SLC9A6Likely pathogenic-1RCV002027540; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135084266135084266GA135084266-
NM_001379110.1(SLC9A6):c.652A>G (p.Ile218Val)10479SLC9A6Uncertain significancers782677140RCV000800387; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135084281135084281AGX:g.135084281A>G-
NM_001379110.1(SLC9A6):c.682C>T (p.Leu228Phe)10479SLC9A6Uncertain significance-1RCV001916190; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135084311135084311CT135084311-
NM_001379110.1(SLC9A6):c.691CTT[1] (p.Leu232del)10479SLC9A6Likely pathogenicrs1603201557RCV000990950; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135084320135084322ACTTAX:g.135084320_135084322del-
NM_001379110.1(SLC9A6):c.704_709del (p.Glu235_Ser236del)10479SLC9A6Pathogenicrs886037619RCV000012231; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135084330135084335GGTGAAAGNC_000023.10:g.135084333_135084338delClinGen:CA10602351,OMIM:300231.0001C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.717T>C (p.Asn239=)10479SLC9A6Likely benign-1RCV001423432; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135084346135084346TC135084346-
NM_001379110.1(SLC9A6):c.726del (p.Ala243fs)10479SLC9A6Pathogenicrs1057519394RCV000417039; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135084354135084354GTGX:g.135084354_135084354delClinGen:CA16044365C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.743+1G>A10479SLC9A6Pathogenic/Likely pathogenicrs1556617455RCV000498280|RCV000792492; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135084373135084373GANC_000023.10:g.135084373G>AClinGen:CA414750658CN517202 not provided;
NM_001379110.1(SLC9A6):c.743+3_743+6del10479SLC9A6Pathogenic-1RCV001553534|RCV002032599; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135084373135084376CGTAAC135084372-
NM_001379110.1(SLC9A6):c.743+11G>C10479SLC9A6Likely benign-1RCV002166259; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135084383135084383GC135084383-
NM_001379110.1(SLC9A6):c.744-7T>C10479SLC9A6Likely benignrs1556618483RCV000869757|RCV001474550; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135092594135092594TCX:g.135092594T>C-
NM_001379110.1(SLC9A6):c.744-6C>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.756A>G (p.Ala252=)10479SLC9A6Likely benign-1RCV001406304; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135092613135092613AG135092613-
NM_001379110.1(SLC9A6):c.801G>A (p.Ala267=)10479SLC9A6Benign/Likely benignrs185192141RCV000128152|RCV002055810; NMedGen:CN169374|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135092658135092658GAX:g.135092658G>AClinGen:CA293614CN169374 not specified;
NM_001379110.1(SLC9A6):c.803T>C (p.Met268Thr)10479SLC9A6Uncertain significance-1RCV001982794; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135092660135092660TC135092660-
NM_001379110.1(SLC9A6):c.806dup (p.Lys270fs)10479SLC9A6Pathogenic-1RCV001987775; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135092661135092662GGT135092661-
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_001379110.1(SLC9A6):c.825C>G (p.Phe275Leu)10479SLC9A6Uncertain significancers797044779RCV000179915|RCV001542375; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135092682135092682CGX:g.135092682C>GClinGen:CA247246CN169374 not specified;
NM_001379110.1(SLC9A6):c.852A>T (p.Ala284=)10479SLC9A6Likely benignrs371472909RCV000867618|RCV001482709; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135092709135092709ATX:g.135092709A>TClinGen:CA10524733CN169374 not specified;
NM_001379110.1(SLC9A6):c.856_864del (p.Gly286_Ala288del)10479SLC9A6Pathogenicrs398122849RCV000022841; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135092713135092721GGGTGCTGCTGX:g.135092713_135092721delClinGen:CA128786,OMIM:300231.0005C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.885+5C>T10479SLC9A6Uncertain significancers2070901186RCV001298393|RCV001751571; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MedGen:CN517202X135092747135092747CT135092747-
NM_001379110.1(SLC9A6):c.885+10T>C10479SLC9A6Likely benign-1RCV002105512; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135092752135092752TC135092752-
NM_001379110.1(SLC9A6):c.886-17A>G10479SLC9A6Likely benign-1RCV002189683; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095091135095091AG135095091-
NM_001379110.1(SLC9A6):c.886-1C>A10479SLC9A6Pathogenic-1RCV001784991; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095107135095107CA135095107-
NM_001379110.1(SLC9A6):c.886G>A (p.Val296Met)10479SLC9A6Uncertain significancers1556618832RCV000532326; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095108135095108GAX:g.135095108G>AClinGen:CA414751479C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.902A>G (p.Lys301Arg)10479SLC9A6Uncertain significance-1RCV001953106; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095124135095124AG135095124-
NM_001379110.1(SLC9A6):c.916C>T (p.Gln306Ter)10479SLC9A6Pathogenicrs398124224RCV000081397|RCV001507034; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095138135095138CTX:g.135095138C>TClinGen:CA222934CN517202 not provided;
NM_001379110.1(SLC9A6):c.933C>A (p.Gly311=)10479SLC9A6Likely benign-1RCV002217167; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095155135095155CA135095155-
NM_001379110.1(SLC9A6):c.953G>T (p.Trp318Leu)10479SLC9A6Pathogenic-1RCV001383590; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095175135095175GT135095175-
NM_001379110.1(SLC9A6):c.959C>G (p.Thr320Ser)10479SLC9A6Uncertain significance-1RCV001944253; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095181135095181CG135095181-
NM_001379110.1(SLC9A6):c.960C>G (p.Thr320=)10479SLC9A6Likely benignrs1060504686RCV000468522|RCV001493415; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095182135095182CGNC_000023.10:g.135095182C>GClinGen:CA16616633C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.971C>T (p.Ala324Val)10479SLC9A6Uncertain significancers2070952678RCV001222469; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095193135095193CTX:g.135095193C>T-
NM_001379110.1(SLC9A6):c.982G>A (p.Gly328Ser)10479SLC9A6Uncertain significancers1327086146RCV001302383; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095204135095204GA135095204-
NM_001379110.1(SLC9A6):c.991+15C>G10479SLC9A6Likely benign-1RCV002144092; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095228135095228CG135095228-
NM_001379110.1(SLC9A6):c.992-3T>C10479SLC9A6Uncertain significancers2070958568RCV001245424; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095505135095505TCX:g.135095505T>C-
NM_001379110.1(SLC9A6):c.992G>A (p.Gly331Asp)10479SLC9A6Pathogenicrs782108464RCV001004677; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095508135095508GAX:g.135095508G>A-
NM_001379110.1(SLC9A6):c.1005A>G (p.Val335=)10479SLC9A6Benign/Likely benignrs782706500RCV000719466|RCV002067052; NMedGen:C2711754|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095521135095521AGNC_000023.10:g.135095521A>G-
NM_001379110.1(SLC9A6):c.1026A>G (p.Gln342=)10479SLC9A6Uncertain significance-1RCV001969221; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095542135095542AG135095542-
NM_001379110.1(SLC9A6):c.1029A>C (p.Ala343=)10479SLC9A6Benignrs142049079RCV000147536|RCV000475960|RCV000715100; NMedGen:CN169374|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MedGen:C2711754X135095545135095545ACX:g.135095545A>CClinGen:CA295164C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.1037C>T (p.Thr346Met)10479SLC9A6Uncertain significance-1RCV001906210; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095553135095553CT135095553-
NM_001379110.1(SLC9A6):c.1038G>A (p.Thr346=)10479SLC9A6Likely benignrs782783023RCV000616075|RCV001503135; NMedGen:CN169374|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095554135095554GAX:g.135095554G>AClinGen:CA10524756CN169374 not specified;
NM_001379110.1(SLC9A6):c.1038G>T (p.Thr346=)10479SLC9A6Likely benignrs782783023RCV000828607|RCV001458153; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095554135095554GTX:g.135095554G>T-
NM_001379110.1(SLC9A6):c.1055C>T (p.Thr352Met)10479SLC9A6Uncertain significance-1RCV001919797; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095571135095571CT135095571-
NM_001379110.1(SLC9A6):c.1080+10A>G10479SLC9A6Benign-1RCV002115697; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095606135095606AG135095606-
NM_001379110.1(SLC9A6):c.1080+17A>G10479SLC9A6Uncertain significancers2070960570RCV001334542; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095613135095613AG135095613-
NM_001379110.1(SLC9A6):c.1080+80dup10479SLC9A6Benign/Likely benignrs35492327RCV000990951|RCV001559949; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MedGen:CN517202X135095664135095665TTAX:g.135095664_135095665insA-
NM_001379110.1(SLC9A6):c.1081-18T>C10479SLC9A6Likely benign-1RCV002160925; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135098786135098786TC135098786-
NM_001379110.1(SLC9A6):c.1081-8C>T10479SLC9A6Likely benignrs1060504684RCV000473803; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135098796135098796CTNC_000023.10:g.135098796C>TClinGen:CA16616616C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.1081-7G>A10479SLC9A6Likely benign-1RCV002083326; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135098797135098797GA135098797-
NM_001379110.1(SLC9A6):c.1083G>A (p.Leu361=)10479SLC9A6Conflicting interpretations of pathogenicityrs151178361RCV000594833|RCV000720971|RCV001083801; NMedGen:CN517202|MedGen:C2711754|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135098806135098806GANC_000023.10:g.135098806G>AClinGen:CA10524772C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.1119C>T (p.Ile373=)10479SLC9A6Likely benignrs140158476RCV000862299|RCV002064449; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135098842135098842CTX:g.135098842C>T-
NM_001379110.1(SLC9A6):c.1143_1144del (p.Phe382fs)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_001379110.1(SLC9A6):c.1143G>A (p.Leu381=)10479SLC9A6Likely benignrs782501407RCV000418279|RCV001396840; NMedGen:CN169374|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135098866135098866GAX:g.135098866G>AClinGen:CA16608700CN169374 not specified;
NM_001379110.1(SLC9A6):c.1157A>G (p.Asn386Ser)10479SLC9A6Uncertain significance-1RCV001360563; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135098880135098880AG135098880-
NM_001379110.1(SLC9A6):c.1164C>T (p.Val388=)10479SLC9A6Likely benignrs1556619315RCV000555538; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135098887135098887CTNC_000023.10:g.135098887C>TClinGen:CA518753566C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.1170C>T (p.Asn390=)10479SLC9A6Likely benign-1RCV002186753; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135098893135098893CT135098893-
NC_000023.10:g.(?_135104735)_(135106652_?)del10479SLC9A6Pathogenic-1RCV001387709; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135104735135106652nana-1-
NM_001379110.1(SLC9A6):c.1223A>G (p.Asn408Ser)10479SLC9A6Uncertain significance-1RCV001917326; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135104773135104773AG135104773-
NM_001379110.1(SLC9A6):c.1227T>C (p.Ile409=)10479SLC9A6Likely benign-1RCV001475893; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135104777135104777TC135104777-
NM_001379110.1(SLC9A6):c.1246_1249del (p.Leu416fs)10479SLC9A6Pathogenicrs2071147098RCV001221608; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135104792135104795TCTTATX:g.135104792_135104795del-
NM_001379110.1(SLC9A6):c.1269G>C (p.Lys423Asn)10479SLC9A6Conflicting interpretations of pathogenicity-1RCV001593567|RCV001866179; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135104819135104819GC135104819-
NM_001379110.1(SLC9A6):c.1287A>G (p.Gln429=)10479SLC9A6Likely benignrs142161862RCV000189402|RCV001456305|RCV001721223; NMedGen:CN169374|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MedGen:CN517202X135104837135104837AGX:g.135104837A>GClinGen:CA318504CN169374 not specified;
NM_001379110.1(SLC9A6):c.1306+8G>A10479SLC9A6Benign/Likely benignrs6654310RCV000081394|RCV001522385; NMedGen:CN169374|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135104864135104864GAX:g.135104864G>AClinGen:CA285657CN169374 not specified;
NM_001379110.1(SLC9A6):c.1307-19C>T10479SLC9A6Likely benign-1RCV002163445; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135106470135106470CT135106470-
NM_001379110.1(SLC9A6):c.1307-17T>C10479SLC9A6Likely benign-1RCV002101366; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135106472135106472TC135106472-
NM_001379110.1(SLC9A6):c.1307-1G>A10479SLC9A6Pathogenicrs1603215383RCV000845288; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135106488135106488GAX:g.135106488G>A-
NM_001379110.1(SLC9A6):c.1316G>A (p.Gly439Asp)10479SLC9A6Likely pathogenicrs1569525357RCV000700654; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135106498135106498GANC_000023.10:g.135106498G>A-C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.1342C>T (p.Arg448Ter)10479SLC9A6Pathogenicrs122461162RCV000012232|RCV000627211; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MedGen:CN517202X135106524135106524CTX:g.135106524C>TClinGen:CA121507,OMIM:300231.0002C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.1385C>T (p.Thr462Met)10479SLC9A6Uncertain significance-1RCV001925505; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135106567135106567CT135106567-
NM_001379110.1(SLC9A6):c.1420G>T (p.Gly474Cys)10479SLC9A6Uncertain significancers2071193961RCV001338290; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135106602135106602GT135106602-
NM_001379110.1(SLC9A6):c.1423_1424insCA (p.Gly475fs)10479SLC9A6Likely pathogenic-1RCV001775316; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135106605135106606GGCA135106605-
NM_001379110.1(SLC9A6):c.1428C>T (p.Gly476=)10479SLC9A6Uncertain significancers782370742RCV000525320; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135106610135106610CTX:g.135106610C>TClinGen:CA10524813C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.1434T>C (p.Thr478=)10479SLC9A6Likely benignrs1057520374RCV000431608|RCV000939129|RCV001495795; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135106616135106616TCX:g.135106616T>CClinGen:CA16608284CN169374 not specified;
NM_001379110.1(SLC9A6):c.1438dup (p.Met480fs)10479SLC9A6Pathogenic/Likely pathogenic-1RCV001577049|RCV002072270; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135106618135106619CCA135106618-
NM_001379110.1(SLC9A6):c.1460+4A>G10479SLC9A6Benignrs180727016RCV000081395|RCV000715070|RCV000990952|RCV001705756; NMedGen:CN169374|MedGen:C2711754|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MedGen:CN517202X135106646135106646AGX:g.135106646A>GClinGen:CA285658C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.1460+6T>C10479SLC9A6Benign/Likely benignrs781963949RCV000981713|RCV001719114; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MedGen:CN517202X135106648135106648TCX:g.135106648T>CClinGen:CA336248940CN169374 not specified;
NM_001379110.1(SLC9A6):c.1460+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.1551-18T>G10479SLC9A6Likely benign-1RCV002111591; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135112273135112273TG135112273-
NM_001379110.1(SLC9A6):c.1551-11T>C10479SLC9A6Likely benign-1RCV001688664|RCV002073243; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135112280135112280TC135112280-
NM_001379110.1(SLC9A6):c.1555G>A (p.Gly519Ser)10479SLC9A6Uncertain significancers782731165RCV001213237; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135112295135112295GAX:g.135112295G>A-
NM_001379110.1(SLC9A6):c.1566A>C (p.Ser522=)10479SLC9A6Likely benignrs781843930RCV000977528|RCV001501049; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135112306135112306ACX:g.135112306A>C-
NM_001379110.1(SLC9A6):c.1573G>T (p.Glu525Ter)10479SLC9A6Pathogenicrs398123003RCV000077787; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135112313135112313GTX:g.135112313G>TClinGen:CA145508,OMIM:300231.0006C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.1578C>T (p.His526=)10479SLC9A6Likely benign-1RCV001469062; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135112318135112318CT135112318-
NM_001379110.1(SLC9A6):c.1581+11G>A10479SLC9A6Benignrs375145994RCV000128157|RCV002055811; NMedGen:CN169374|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135112332135112332GAX:g.135112332G>AClinGen:CA293618CN169374 not specified;
NM_001379110.1(SLC9A6):c.1581+15T>C10479SLC9A6Likely benign-1RCV002096719; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135112336135112336TC135112336-
NM_001379110.1(SLC9A6):c.1582-9T>C10479SLC9A6Likely benign-1RCV002179477; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135115564135115564TC135115564-
NM_001379110.1(SLC9A6):c.1582-3C>T10479SLC9A6Benignrs563279759RCV000194620|RCV000540036|RCV001729404; NMedGen:CN169374|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MedGen:CN517202X135115570135115570CTX:g.135115570C>TClinGen:CA208905C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.1582G>A (p.Gly528Ser)10479SLC9A6Uncertain significancers2071360759RCV001223382; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135115573135115573GAX:g.135115573G>A-
NM_001379110.1(SLC9A6):c.1588C>A (p.Pro530Thr)10479SLC9A6Uncertain significancers782145804RCV000189422|RCV001346203; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135115579135115579CAX:g.135115579C>AClinGen:CA318547CN169374 not specified;
NM_001379110.1(SLC9A6):c.1588C>G (p.Pro530Ala)10479SLC9A6Uncertain significance-1RCV002038715; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135115579135115579CG135115579-
NM_001379110.1(SLC9A6):c.1599_1603del (p.Arg534fs)10479SLC9A6Pathogenicrs1603219805RCV000995874; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135115588135115592TGAAAGTX:g.135115588_135115592del-
NM_001379110.1(SLC9A6):c.1637G>A (p.Arg546Gln)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_001379110.1(SLC9A6):c.1638G>T (p.Arg546=)10479SLC9A6Uncertain significance-1RCV002017677; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135115629135115629GT135115629-
NM_001379110.1(SLC9A6):c.1638G>A (p.Arg546=)10479SLC9A6Likely benign-1RCV002143959; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135115629135115629GA135115629-
NM_001379110.1(SLC9A6):c.1644del (p.Trp548fs)10479SLC9A6Pathogenic-1RCV002012056; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135115634135115634TGT135115633-
NM_001379110.1(SLC9A6):c.1661+28dup10479SLC9A6Benign-1RCV002124929; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135115669135115670GGA135115669-
NM_001379110.1(SLC9A6):c.1661+18A>G10479SLC9A6Likely benign-1RCV002195275; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135115670135115670AG135115670-
NM_001379110.1(SLC9A6):c.1661+28del10479SLC9A6Benign-1RCV002129799; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135115670135115670GAG135115669-
NM_001379110.1(SLC9A6):c.1662-4G>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_001379110.1(SLC9A6):c.1689C>T (p.Ser563=)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.1690G>A (p.Gly564Arg)10479SLC9A6Uncertain significance-1RCV001928164; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135122263135122263GA135122263-
NM_001379110.1(SLC9A6):c.1698G>A (p.Pro566=)10479SLC9A6Likely benignrs1060504687RCV000475624|RCV001472348; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135122271135122271GANC_000023.10:g.135122271G>AClinGen:CA16616635C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.1711C>T (p.Leu571Phe)10479SLC9A6Uncertain significancers149360465RCV001325395; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135122284135122284CT135122284-
NM_001379110.1(SLC9A6):c.1721G>A (p.Cys574Tyr)10479SLC9A6Uncertain significance-1RCV001907739; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135122294135122294GA135122294-
NM_001379110.1(SLC9A6):c.1727G>A (p.Gly576Glu)10479SLC9A6Uncertain significancers2071482037RCV001233445; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135122300135122300GAX:g.135122300G>A-
NM_001379110.1(SLC9A6):c.1728A>G (p.Gly576=)10479SLC9A6Likely benign-1RCV001490467; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135122301135122301AG135122301-
NM_001379110.1(SLC9A6):c.1734C>T (p.Ile578=)10479SLC9A6Conflicting interpretations of pathogenicity-1RCV001436660|RCV001655724; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MedGen:CN517202X135122307135122307CT135122307-
NM_001379110.1(SLC9A6):c.1764C>T (p.Tyr588=)10479SLC9A6Likely benign-1RCV001435193; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135122337135122337CT135122337-
NM_001379110.1(SLC9A6):c.1765G>A (p.Glu589Lys)10479SLC9A6Uncertain significancers1556622379RCV001303447; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135122338135122338GA135122338-
NM_001379110.1(SLC9A6):c.1768-6A>G10479SLC9A6Conflicting interpretations of pathogenicityrs1556623179RCV000501576|RCV001461996; NMedGen:CN169374|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126605135126605AGNC_000023.10:g.135126605A>GClinGen:CA644626142CN169374 not specified;
NM_001379110.1(SLC9A6):c.1768A>C (p.Asn590His)10479SLC9A6Uncertain significancers2071563497RCV001313742; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126611135126611AC135126611-
NM_001379110.1(SLC9A6):c.1826G>A (p.Ser609Asn)10479SLC9A6Uncertain significance-1RCV001889808; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126669135126669GA135126669-
NM_001379110.1(SLC9A6):c.1832C>T (p.Thr611Ile)10479SLC9A6Uncertain significancers2071564662RCV001237236; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126675135126675CTX:g.135126675C>T-
NM_001379110.1(SLC9A6):c.1833A>T (p.Thr611=)10479SLC9A6Likely benignrs782629258RCV000720372|RCV000871440; NMedGen:C2711754|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126676135126676ATNC_000023.10:g.135126676A>T-
NM_001379110.1(SLC9A6):c.1839A>T (p.Gly613=)10479SLC9A6Likely benign-1RCV001447300; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126682135126682AT135126682-
NM_001379110.1(SLC9A6):c.1844C>T (p.Ser615Phe)10479SLC9A6Likely benign-1RCV001446311; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126687135126687CT135126687-
NM_001379110.1(SLC9A6):c.1862C>T (p.Pro621Leu)10479SLC9A6Likely benign-1RCV001394571; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126705135126705CT135126705-
NM_001379110.1(SLC9A6):c.1869A>T (p.Thr623=)10479SLC9A6Likely benign-1RCV002137043; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126712135126712AT135126712-
NM_001379110.1(SLC9A6):c.1873A>G (p.Ser625Gly)10479SLC9A6Uncertain significancers558960349RCV000646195; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126716135126716AGNC_000023.10:g.135126716A>GClinGen:CA336249943C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.1876G>A (p.Ala626Thr)10479SLC9A6Uncertain significancers1556623211RCV001342341; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126719135126719GA135126719-
NM_001379110.1(SLC9A6):c.1887A>G (p.Arg629=)10479SLC9A6Benign-1RCV002185126; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126730135126730AG135126730-
NM_001379110.1(SLC9A6):c.1922G>A (p.Arg641Gln)10479SLC9A6Benign-1RCV001516540; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126765135126765GA135126765-
NM_001379110.1(SLC9A6):c.1934T>G (p.Phe645Cys)10479SLC9A6Uncertain significancers2071567769RCV001035156; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126777135126777TGX:g.135126777T>G-
NM_001379110.1(SLC9A6):c.1955T>C (p.Ile652Thr)10479SLC9A6Uncertain significance-1RCV001919584; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126798135126798TC135126798-
NM_001379110.1(SLC9A6):c.1958G>T (p.Arg653Leu)10479SLC9A6Uncertain significance-1RCV001372697; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126801135126801GT135126801-
NM_001379110.1(SLC9A6):c.1958G>A (p.Arg653Gln)10479SLC9A6Uncertain significance-1RCV001995111; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126801135126801GA135126801-
NM_001379110.1(SLC9A6):c.1983G>A (p.Met661Ile)10479SLC9A6Uncertain significance-1RCV002001282; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126826135126826GA135126826-
NM_001379110.1(SLC9A6):c.1992T>G (p.Ser664=)10479SLC9A6Likely benign-1RCV002168293; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126835135126835TG135126835-
NM_001379110.1(SLC9A6):c.1996C>T (p.Pro666Ser)10479SLC9A6Uncertain significancers2071569462RCV001216484; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126839135126839CTX:g.135126839C>T-
NM_001379110.1(SLC9A6):c.2000C>T (p.Pro667Leu)10479SLC9A6Uncertain significance-1RCV002038025; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126843135126843CT135126843-
NM_001379110.1(SLC9A6):c.2001G>A (p.Pro667=)10479SLC9A6Conflicting interpretations of pathogenicityrs782708610RCV000295638|RCV001516730; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126844135126844GAX:g.135126844G>AClinGen:CA10524885CN169374 not specified;
NM_001379110.1(SLC9A6):c.2006A>G (p.Asn669Ser)10479SLC9A6Uncertain significance-1RCV001933537; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126849135126849AG135126849-
NM_001379110.1(SLC9A6):c.2012T>G (p.Leu671Ter)10479SLC9A6Pathogenicrs587784399RCV000147541; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126855135126855TGNC_000023.10:g.135126855T>GClinGen:CA173496C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.2018A>G (p.Asn673Ser)10479SLC9A6Uncertain significancers2071570215RCV001319777; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126861135126861AG135126861-
NM_001379110.1(SLC9A6):c.2019T>C (p.Asn673=)10479SLC9A6Likely benign-1RCV002143900; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126862135126862TC135126862-
NM_001379110.1(SLC9A6):c.2021C>T (p.Thr674Met)10479SLC9A6Conflicting interpretations of pathogenicityrs886044780RCV000316927|RCV000724968|RCV001321181; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126864135126864CTX:g.135126864C>TClinGen:CA10603972CN169374 not specified;
NM_001379110.1(SLC9A6):c.2022G>A (p.Thr674=)10479SLC9A6Benign-1RCV001510862; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126865135126865GA135126865-
NM_001379110.1(SLC9A6):c.2031T>A (p.Gly677=)10479SLC9A6Likely benignrs1603225948RCV000944179|RCV001466320; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126874135126874TAX:g.135126874T>A-
NM_001379110.1(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;
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