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)
..Starting node
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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:  Mental retardation
13 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
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:85278X135067642135106662-1-
NM_001379110.1(SLC9A6):c.-57+26A>G10479SLC9A6Uncertain significance782640388RCV001058825|RCV001374987; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926X135067662135067662X:g.135067662A>G-
NC_000023.10:g.(?_135067662)_(135068006_?)dup10479SLC9A6Uncertain significance-1RCV001942982; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067662135068006-1-
NM_001379110.1(SLC9A6):c.-57+27T>G10479SLC9A6Uncertain significance1006154022RCV000433846|RCV001507050|RCV002519559; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MeSH:D030342,MedGen:C0950123X135067663135067663X:g.135067663T>GClinGen:CA16608696CN517202 not provided;
NM_001379110.1(SLC9A6):c.-57+30C>T10479SLC9A6Uncertain significance1334602422RCV000762672|RCV001855958; NMedGen:C3661900|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067666135067666NC_000023.10:g.135067666C>T-
NM_001379110.1(SLC9A6):c.-57+32C>T10479SLC9A6Uncertain significance1556614701RCV000813836|RCV003413636; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|X135067668135067668X:g.135067668C>T-
NM_001379110.1(SLC9A6):c.-57+33G>T10479SLC9A6Uncertain significance1016216648RCV000694032; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067669135067669X:g.135067669G>T-C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.-57+34G>C10479SLC9A6Likely benign1556614706RCV001499423; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067670135067670135067670-
NM_001379110.1(SLC9A6):c.-57+43G>C10479SLC9A6Uncertain significance1012532789RCV000523044|RCV002528239; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067679135067679X:g.135067679G>CClinGen:CA336084217CN169374 not specified;
NM_001379110.1(SLC9A6):c.-57+50G>T10479SLC9A6Benign201523857RCV000147542|RCV000224732|RCV000462225|RCV002312660; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MeSH:D030342,MedGen:C0950123X135067686135067686X:g.135067686G>TClinGen:CA295170C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.-57+50G>C10479SLC9A6Uncertain significance201523857RCV001331523; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067686135067686135067686-
NM_001379110.1(SLC9A6):c.-57+52A>G10479SLC9A6Likely benign1381680693RCV002090688; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067688135067688135067688-
NM_001379110.1(SLC9A6):c.-57+53C>T10479SLC9A6Uncertain significance2148129304RCV002035174; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067689135067689135067689-
NM_001379110.1(SLC9A6):c.-57+62C>T10479SLC9A6Uncertain significance1556614725RCV001344185; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067698135067698135067698-
NM_001379110.1(SLC9A6):c.-56-54G>T10479SLC9A6Uncertain significance-1RCV003065137; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067708135067708NC_000023.10:g.135067708G>T-
NM_001379110.1(SLC9A6):c.-56-43C>G10479SLC9A6Uncertain significance1556614733RCV001988798; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067719135067719135067719-
NM_001379110.1(SLC9A6):c.-56-36G>A10479SLC9A6Uncertain significance2089320091RCV002024102; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067726135067726135067726-
NM_001379110.1(SLC9A6):c.-56-35C>G10479SLC9A6Benign1282592417RCV002132206; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067727135067727135067727-
NM_001379110.1(SLC9A6):c.-56-32G>A10479SLC9A6Likely benign2148129449RCV002177530; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067730135067730135067730-
NM_001379110.1(SLC9A6):c.-56-31C>T10479SLC9A6Uncertain significance2148129457RCV001975690|RCV003128838; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MedGen:C3661900X135067731135067731135067731-
NM_001379110.1(SLC9A6):c.-56-25C>G10479SLC9A6Conflicting interpretations of pathogenicity782396686RCV000189404|RCV001857654; NMedGen:CN169374|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067737135067737X:g.135067737C>GClinGen:CA318510CN169374 not specified;
NM_001379110.1(SLC9A6):c.-56-21C>A10479SLC9A6Uncertain significance782242879RCV001209614|RCV003398938; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|X135067741135067741X:g.135067741C>A-
NM_001379110.1(SLC9A6):c.-56-17T>G10479SLC9A6Likely benign-1RCV003034133; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067745135067745NC_000023.10:g.135067745T>G-
NM_001379110.1(SLC9A6):c.-56-7C>A10479SLC9A6Likely benign-1RCV002630898; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067755135067755NC_000023.10:g.135067755C>A-
NM_001379110.1(SLC9A6):c.-56-4G>T10479SLC9A6Uncertain significance782312727RCV001372571; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067758135067758135067758-
NM_001379110.1(SLC9A6):c.-25C>T10479SLC9A6Likely benign-1RCV002609249; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067793135067793NC_000023.10:g.135067793C>T-
NM_001379110.1(SLC9A6):c.-20G>A10479SLC9A6Uncertain significance782736274RCV000494024|RCV001507028; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067798135067798X:g.135067798G>AClinGen:CA10524597CN169374 not specified;
NM_001379110.1(SLC9A6):c.-19C>A10479SLC9A6Likely benign1030979223RCV001427997; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067799135067799135067799-
NM_001379110.1(SLC9A6):c.-16C>T10479SLC9A6Likely benign139299794RCV000213002|RCV000724400|RCV001078789; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067802135067802X:g.135067802C>TClinGen:CA293620CN169374 not specified;
NM_001379110.1(SLC9A6):c.-13A>C10479SLC9A6Likely benign-1RCV002830170; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067805135067805NC_000023.10:g.135067805A>C-
NM_001379110.1(SLC9A6):c.-9G>T10479SLC9A6Likely benign367724979RCV000865182|RCV001721224|RCV002390500; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MedGen:C3661900|MeSH:D030342,MedGen:C0950123X135067809135067809X:g.135067809G>TClinGen:CA318535CN169374 not specified;
NM_001379110.1(SLC9A6):c.-4A>G10479SLC9A6Benign782090744RCV000419289|RCV001507040; NMedGen:CN169374|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067814135067814X:g.135067814A>GClinGen:CA10524601C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.-1C>T10479SLC9A6Likely benign911499882RCV001400757; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067817135067817135067817-
NM_001379110.1(SLC9A6):c.13A>C (p.Ile5Leu)10479SLC9A6Uncertain significance1556614802RCV001238532; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067830135067830X:g.135067830A>C-
NM_001379110.1(SLC9A6):c.15C>G (p.Ile5Met)10479SLC9A6Likely benign782296172RCV000433575|RCV001088949; NMedGen:C3661900|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067832135067832X:g.135067832C>GClinGen:CA10524605C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.22G>C (p.Glu8Gln)10479SLC9A6Uncertain significance2148129792RCV001981862; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067839135067839135067839-
NM_001379110.1(SLC9A6):c.27del (p.Lys9fs)10479SLC9A6Pathogenic587784398RCV000147540; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067844135067844NC_000023.10:g.135067844delGClinGen:CA173495C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.57C>T (p.Ser19=)10479SLC9A6Benign/Likely benign781963863RCV001521806|RCV001703570; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MedGen:C3661900X135067874135067874X:g.135067874C>TClinGen:CA10524610CN169374 not specified;
NM_001379110.1(SLC9A6):c.71_88del (p.Ile24_Leu29del)10479SLC9A6Uncertain significance1603184929RCV000808896; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067881135067898X:g.135067881_135067898del-
NM_001379110.1(SLC9A6):c.66G>A (p.Leu22=)10479SLC9A6Likely benign1230295623RCV001411205; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067883135067883135067883-
NM_001379110.1(SLC9A6):c.67C>G (p.Leu23Val)10479SLC9A6Uncertain significance-1RCV002510626; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067884135067884NC_000023.10:g.135067884C>G-
NM_001379110.1(SLC9A6):c.75C>T (p.Phe25=)10479SLC9A6Likely benign977361236RCV002162468; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067892135067892135067892-
NM_001379110.1(SLC9A6):c.78C>T (p.Ile26=)10479SLC9A6Likely benign-1RCV002658414; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067895135067895-
NM_001379110.1(SLC9A6):c.81G>A (p.Leu27=)10479SLC9A6Uncertain significance2089324822RCV001481702|RCV001762696; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MedGen:C3661900X135067898135067898135067898-
NM_001379110.1(SLC9A6):c.90C>T (p.Thr30=)10479SLC9A6Likely benign782806095RCV002156477; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067907135067907135067907-
NM_001379110.1(SLC9A6):c.113T>C (p.Leu38Pro)10479SLC9A6Uncertain significance1556614843RCV000533095; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067930135067930X:g.135067930T>CClinGen:CA414606885C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.120G>A (p.Lys40=)10479SLC9A6Likely benign1301281396RCV002539034; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067937135067937X:g.135067937G>A-
NM_001379110.1(SLC9A6):c.130G>C (p.Ala44Pro)10479SLC9A6Uncertain significance1556614849RCV000657963|RCV002534264; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067947135067947X:g.135067947G>C-CN517202 not provided;
NM_001379110.1(SLC9A6):c.138C>G (p.Phe46Leu)10479SLC9A6Uncertain significance-1RCV002441830|RCV003102909; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067955135067955135067955-
NM_001379110.1(SLC9A6):c.168T>C (p.Tyr56=)10479SLC9A6Likely benign782671441RCV001391706; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067985135067985135067985-
NM_001379110.1(SLC9A6):c.169+14C>G10479SLC9A6Likely benign1556614871RCV000612479|RCV002063108; NMedGen:CN169374|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135068000135068000X:g.135068000C>GClinGen:CA658799867CN169374 not specified;
NM_001379110.1(SLC9A6):c.170-11C>T10479SLC9A6Likely benign-1RCV002923401; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135076934135076934NC_000023.10:g.135076934C>T-
NM_001379110.1(SLC9A6):c.170G>T (p.Gly57Val)10479SLC9A6Likely pathogenic2148143998RCV001917519; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135076945135076945135076945-
NM_001379110.1(SLC9A6):c.206A>G (p.His69Arg)10479SLC9A6Likely benign1060502675RCV000474987; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135076981135076981NC_000023.10:g.135076981A>GClinGen:CA16616449C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.211C>T (p.Pro71Ser)10479SLC9A6Uncertain significance587784400RCV000147543; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135076986135076986NC_000023.10:g.135076986C>TClinGen:CA173498C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.212C>T (p.Pro71Leu)10479SLC9A6Uncertain significance782469016RCV001362877; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135076987135076987135076987-
NM_001379110.1(SLC9A6):c.213G>A (p.Pro71=)10479SLC9A6Likely benign782600941RCV000920546; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135076988135076988X:g.135076988G>A-
NM_001379110.1(SLC9A6):c.220G>A (p.Val74Ile)10479SLC9A6Benign781798443RCV002194334; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135076995135076995135076995-
NM_001379110.1(SLC9A6):c.228T>C (p.Asn76=)10479SLC9A6Likely benign782529317RCV000468100|RCV001474069|RCV002356745; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MeSH:D030342,MedGen:C0950123X135077003135077003NC_000023.10:g.135077003T>CClinGen:CA10524644C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.233C>A (p.Thr78Asn)10479SLC9A6Uncertain significance782644535RCV001894327; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135077008135077008135077008-
NM_001379110.1(SLC9A6):c.239G>A (p.Ser80Asn)10479SLC9A6Uncertain significance1451637533RCV001370795; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135077014135077014135077014-
NM_001379110.1(SLC9A6):c.256A>G (p.Ser86Gly)10479SLC9A6Uncertain significance587784401RCV000147544; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135077031135077031NC_000023.10:g.135077031A>GClinGen:CA173500C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.261A>G (p.Pro87=)10479SLC9A6Likely benign2148144184RCV002196075; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135077036135077036135077036-
NM_001379110.1(SLC9A6):c.262A>G (p.Thr88Ala)10479SLC9A6Uncertain significance372003999RCV000520347|RCV001300841; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135077037135077037X:g.135077037A>GClinGen:CA10524646CN169374 not specified;
NM_001379110.1(SLC9A6):c.290A>G (p.Lys97Arg)10479SLC9A6Likely benign2148144215RCV002090658; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135077065135077065135077065-
NC_000023.10:g.(?_135080247)_(135126903_?)dup10479SLC9A6Uncertain significance-1RCV003109507; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080247135126903-
NC_000023.10:g.(?_135080257)_(135292184_?)dup10479SLC9A6Uncertain significance-1RCV001339208; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080257135292184-1-
NM_001379110.1(SLC9A6):c.370-3C>T10479SLC9A6Uncertain significance2148149795RCV001888411; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080264135080264135080264-
NM_001379110.1(SLC9A6):c.370G>T (p.Val124Phe)10479SLC9A6Uncertain significance1556616820RCV002018407; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080267135080267135080267-
NM_001379110.1(SLC9A6):c.372T>A (p.Val124=)10479SLC9A6Likely benign2148149814RCV001436629; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080269135080269135080269-
NM_001379110.1(SLC9A6):c.393T>G (p.Phe131Leu)10479SLC9A6Uncertain significance1603198044RCV000802213; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080290135080290X:g.135080290T>G-
NM_001379110.1(SLC9A6):c.400A>G (p.Ile134Val)10479SLC9A6Uncertain significance2089531604RCV001899205; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080297135080297135080297-
NM_001379110.1(SLC9A6):c.420_421del (p.Phe141fs)10479SLC9A6Pathogenic1603198063RCV000770998; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080315135080316X:g.135080315_135080316del-
NM_001379110.1(SLC9A6):c.425A>G (p.Tyr142Cys)10479SLC9A6Uncertain significance1556616834RCV000543846|RCV002464255; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MedGen:CN517202X135080322135080322X:g.135080322A>GClinGen:CA414749819C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.447+3_447+4delinsCC10479SLC9A6Pathogenic730882187RCV000012233; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080347135080348NC_000023.10:g.135080347_135080348delinsCCClinGen:CA121511,OMIM:300231.0003C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.447+20A>C10479SLC9A6Likely benign2089532535RCV002194502; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080364135080364135080364-
NM_001379110.1(SLC9A6):c.448-6dup10479SLC9A6Benign/Likely benign375038684RCV001536470|RCV001810086|RCV002334587; NMedGen:C3661900|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MeSH:D030342,MedGen:C0950123X135080623135080624135080623-
NM_001379110.1(SLC9A6):c.448-7_448-6dup10479SLC9A6Benign375038684RCV001658705|RCV002073031; NMedGen:C3661900|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080623135080624135080623-
NM_001379110.1(SLC9A6):c.448-6del10479SLC9A6Benign375038684RCV000322967|RCV002059160; NMedGen:CN169374|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080624135080624X:g.135080624_135080624delClinGen:CA10524670CN169374 not specified;
NM_001379110.1(SLC9A6):c.448-9_459del10479SLC9A6Likely pathogenic-1RCV002466304; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080625135080645NC_000023.10:g.135080632_135080652del-
NM_001379110.1(SLC9A6):c.448-9_448-8insC10479SLC9A6Likely benign781959681RCV001485146; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080632135080633135080632-
NM_001379110.1(SLC9A6):c.448-8_448-7insG10479SLC9A6Likely benign782131315RCV001426204; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080633135080634135080633-
NM_001379110.1(SLC9A6):c.448-1G>A10479SLC9A6Pathogenic797044508RCV000153971|RCV001507037; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080640135080640X:g.135080640G>AClinGen:CA180441C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.448A>G (p.Arg150Gly)10479SLC9A6Uncertain significance796053280RCV000189406|RCV001229044; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080641135080641X:g.135080641A>GClinGen:CA318515CN169374 not specified;
NM_001379110.1(SLC9A6):c.452_453del (p.His151fs)10479SLC9A6Pathogenic730882188RCV000012234; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080645135080646X:g.135080645_135080646delClinGen:CA121512,OMIM:300231.0004C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.452A>T (p.His151Leu)10479SLC9A6Conflicting interpretations of pathogenicity796053275RCV000189401|RCV001342805; NMedGen:CN169374|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080645135080645X:g.135080645A>TClinGen:CA318501CN169374 not specified;
NM_001379110.1(SLC9A6):c.461G>A (p.Arg154Gln)10479SLC9A6Uncertain significance782262088RCV001313713; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080654135080654135080654-
NM_001379110.1(SLC9A6):c.471G>A (p.Gly157=)10479SLC9A6Likely benign1292220528RCV001430645; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080664135080664135080664-
NM_001379110.1(SLC9A6):c.471G>T (p.Gly157=)10479SLC9A6Likely benign1292220528RCV002215587; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080664135080664135080664-
NM_001379110.1(SLC9A6):c.474T>C (p.Ser158=)10479SLC9A6Benign144316388RCV000128150|RCV000231992|RCV002312941; NMedGen:CN169374|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MeSH:D030342,MedGen:C0950123X135080667135080667X:g.135080667T>CClinGen:CA293611C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.475A>G (p.Ile159Val)10479SLC9A6Uncertain significance1395246172RCV001552734|RCV002568344; NMedGen:C3661900|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080668135080668135080668-
NM_001379110.1(SLC9A6):c.483A>G (p.Ala161=)10479SLC9A6Likely benign781961294RCV000813072; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080676135080676X:g.135080676A>G-
NM_001379110.1(SLC9A6):c.487G>A (p.Ala163Thr)10479SLC9A6Uncertain significance796053281RCV000189407|RCV001051665; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080680135080680X:g.135080680G>AClinGen:CA318518CN169374 not specified;
NM_001379110.1(SLC9A6):c.492T>C (p.Phe164=)10479SLC9A6Likely benign-1RCV003017107; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080685135080685-
NM_001379110.1(SLC9A6):c.504A>G (p.Ala168=)10479SLC9A6Likely benign782010755RCV001408950; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080697135080697135080697-
NM_001379110.1(SLC9A6):c.506T>A (p.Ile169Asn)10479SLC9A6Uncertain significance-1RCV001270374|RCV002541646; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MeSH:D030342,MedGen:C0950123X135080699135080699X:g.135080699T>A-
NM_001379110.1(SLC9A6):c.516C>T (p.Phe172=)10479SLC9A6Likely benign1423014570RCV000554011|RCV000609426; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MedGen:CN169374X135080709135080709X:g.135080709C>TClinGen:CA518744234C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.517G>A (p.Val173Ile)10479SLC9A6Conflicting interpretations of pathogenicity782117973RCV000871818|RCV002065336|RCV002358707; NMedGen:C3661900|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MeSH:D030342,MedGen:C0950123X135080710135080710X:g.135080710G>AClinGen:CA10524682CN169374 not specified;
NM_001379110.1(SLC9A6):c.524+3A>G10479SLC9A6Conflicting interpretations of pathogenicity372679456RCV000993018|RCV001202051; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080720135080720X:g.135080720A>G-
NM_001379110.1(SLC9A6):c.524+8_524+12del10479SLC9A6Likely benign782802858RCV002125767; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135080723135080727135080722-
NM_001379110.1(SLC9A6):c.525G>A (p.Gly175=)10479SLC9A6Uncertain significance143859232RCV001369847; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135081015135081015135081015-
NM_001379110.1(SLC9A6):c.529A>G (p.Ile177Val)10479SLC9A6Uncertain significance587784402RCV000147545|RCV003436957; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MedGen:C3661900X135081019135081019NC_000023.10:g.135081019A>GClinGen:CA173502C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.534G>A (p.Met178Ile)10479SLC9A6Uncertain significance186896302RCV001872197; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135081024135081024135081024-
NM_001379110.1(SLC9A6):c.548C>T (p.Thr183Met)10479SLC9A6Uncertain significance782759179RCV001212192|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 PhenX135081038135081038X:g.135081038C>T-
NM_001379110.1(SLC9A6):c.549G>A (p.Thr183=)10479SLC9A6Likely benign782386487RCV000929323|RCV002354783; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MeSH:D030342,MedGen:C0950123X135081039135081039X:g.135081039G>A-
NM_001379110.1(SLC9A6):c.559G>A (p.Val187Ile)10479SLC9A6Uncertain significance1556616995RCV000697166; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135081049135081049NC_000023.10:g.135081049G>A-C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.563C>T (p.Thr188Met)10479SLC9A6Uncertain significance372747388RCV000189421|RCV001370517; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135081053135081053X:g.135081053C>TClinGen:CA318544CN169374 not specified;
NM_001379110.1(SLC9A6):c.564G>A (p.Thr188=)10479SLC9A6Benign/Likely benign782216766RCV001511059|RCV001581164; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MedGen:C3661900X135081054135081054135081054-
NM_001379110.1(SLC9A6):c.569A>G (p.Gln190Arg)10479SLC9A6Uncertain significance-1RCV002928334; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135081059135081059NC_000023.10:g.135081059A>G-
NM_001379110.1(SLC9A6):c.594A>G (p.Thr198=)10479SLC9A6Likely benign782072028RCV001417226; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135081084135081084135081084-
NM_001379110.1(SLC9A6):c.603A>G (p.Leu201=)10479SLC9A6Likely benign1060504685RCV001453308; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135081093135081093NC_000023.10:g.135081093A>GClinGen:CA16616615C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.609T>C (p.Phe203=)10479SLC9A6Likely benign-1RCV002750286; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135081099135081099-
NM_001379110.1(SLC9A6):c.630T>C (p.Thr210=)10479SLC9A6Likely benign1556617019RCV001464704; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135081120135081120135081120-
NM_001379110.1(SLC9A6):c.634C>G (p.Pro212Ala)10479SLC9A6Uncertain significance2148151197RCV001360212|RCV001751705; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MedGen:C3661900X135081124135081124135081124-
NM_001379110.1(SLC9A6):c.637+12del10479SLC9A6Likely benign782060423RCV002204603; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135081139135081139135081138-
NM_001379110.1(SLC9A6):c.637+16G>A10479SLC9A6Likely benign-1RCV002838322; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135081143135081143NC_000023.10:g.135081143G>A-
NM_001379110.1(SLC9A6):c.638-10dup10479SLC9A6Benign2089592364RCV002117795; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135084252135084253135084252-
NM_001379110.1(SLC9A6):c.638-8C>T10479SLC9A6Likely benign2148156491RCV001424896; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135084259135084259135084259-
NM_001379110.1(SLC9A6):c.638-5A>G10479SLC9A6Conflicting interpretations of pathogenicity1057520615RCV000432454|RCV001504630|RCV002311451; NMedGen:CN169374|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MeSH:D030342,MedGen:C0950123X135084262135084262X:g.135084262A>GClinGen:CA16608280CN169374 not specified;
NM_001379110.1(SLC9A6):c.638-2A>G10479SLC9A6Likely pathogenic-1RCV003061645; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135084265135084265NC_000023.10:g.135084265A>G-
NM_001379110.1(SLC9A6):c.638-1G>A10479SLC9A6Likely pathogenic2148156504RCV002027540; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135084266135084266135084266-
NM_001379110.1(SLC9A6):c.652A>G (p.Ile218Val)10479SLC9A6Uncertain significance782677140RCV000800387; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135084281135084281X:g.135084281A>G-
NM_001379110.1(SLC9A6):c.657C>T (p.Phe219=)10479SLC9A6Likely benign-1RCV003035804; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135084286135084286-
NM_001379110.1(SLC9A6):c.660C>T (p.His220=)10479SLC9A6Likely benign-1RCV003088415; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135084289135084289-
NM_001379110.1(SLC9A6):c.674A>G (p.Asp225Gly)10479SLC9A6Uncertain significance-1RCV002380232|RCV003103392; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135084303135084303135084303-
NM_001379110.1(SLC9A6):c.682C>T (p.Leu228Phe)10479SLC9A6Uncertain significance2148156546RCV001916190; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135084311135084311135084311-
NM_001379110.1(SLC9A6):c.691CTT[1] (p.Leu232del)10479SLC9A6Likely pathogenic1603201557RCV000990950; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135084320135084322X:g.135084320_135084322del-
NM_001379110.1(SLC9A6):c.704_709del (p.Glu235_Ser236del)10479SLC9A6Pathogenic886037619RCV000012231; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135084330135084335NC_000023.10:g.135084333_135084338delClinGen:CA10602351,OMIM:300231.0001C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.717T>C (p.Asn239=)10479SLC9A6Likely benign2089593239RCV001423432; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135084346135084346135084346-
NM_001379110.1(SLC9A6):c.726del (p.Ala243fs)10479SLC9A6Pathogenic1057519394RCV000417039; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135084354135084354X:g.135084354_135084354delClinGen:CA16044365C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.743+1G>A10479SLC9A6Pathogenic/Likely pathogenic1556617455RCV000498280|RCV000792492; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135084373135084373NC_000023.10:g.135084373G>AClinGen:CA414750658CN517202 not provided;
NM_001379110.1(SLC9A6):c.743+3_743+6del10479SLC9A6Pathogenic2148156632RCV001553534|RCV002032599; NMedGen:C3661900|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135084373135084376135084372-
NM_001379110.1(SLC9A6):c.743+11G>C10479SLC9A6Likely benign1556617460RCV002166259; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135084383135084383135084383-
NM_001379110.1(SLC9A6):c.744-12T>C10479SLC9A6Likely benign-1RCV003108537; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135092589135092589NC_000023.10:g.135092589T>C-
NM_001379110.1(SLC9A6):c.744-7T>C10479SLC9A6Likely benign1556618483RCV001474550; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135092594135092594X:g.135092594T>C-
NM_001379110.1(SLC9A6):c.744-6C>T10479SLC9A6Benign17001258RCV000147546|RCV000473826; NMedGen:CN169374|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135092595135092595X:g.135092595C>TClinGen:CA295173C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.756A>G (p.Ala252=)10479SLC9A6Likely benign1556618492RCV001406304; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135092613135092613135092613-
NM_001379110.1(SLC9A6):c.766G>C (p.Ala256Pro)10479SLC9A6Uncertain significance-1RCV002594293; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135092623135092623NC_000023.10:g.135092623G>C-
NM_001379110.1(SLC9A6):c.775A>G (p.Asn259Asp)10479SLC9A6Uncertain significance-1RCV002304927; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135092632135092632135092632-
NM_001379110.1(SLC9A6):c.801G>A (p.Ala267=)10479SLC9A6Benign/Likely benign185192141RCV000128152|RCV002055810; NMedGen:CN169374|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135092658135092658X:g.135092658G>AClinGen:CA293614CN169374 not specified;
NM_001379110.1(SLC9A6):c.803T>C (p.Met268Thr)10479SLC9A6Uncertain significance2148169885RCV001982794; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135092660135092660135092660-
NM_001379110.1(SLC9A6):c.806dup (p.Lys270fs)10479SLC9A6Pathogenic2148169894RCV001987775; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135092661135092662135092661-
NM_001379110.1(SLC9A6):c.814A>G (p.Ile272Val)10479SLC9A6Uncertain significance-1RCV003007936; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135092671135092671NC_000023.10:g.135092671A>G-
NM_001379110.1(SLC9A6):c.821T>C (p.Ile274Thr)10479SLC9A6Uncertain significance-1RCV001270393; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135092678135092678X:g.135092678T>C-
NM_001379110.1(SLC9A6):c.825C>G (p.Phe275Leu)10479SLC9A6Uncertain significance797044779RCV000179915|RCV001542375; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135092682135092682X:g.135092682C>GClinGen:CA247246CN169374 not specified;
NM_001379110.1(SLC9A6):c.852A>T (p.Ala284=)10479SLC9A6Likely benign371472909RCV000867618|RCV001482709|RCV002377283; NMedGen:C3661900|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MeSH:D030342,MedGen:C0950123X135092709135092709X:g.135092709A>TClinGen:CA10524733CN169374 not specified;
NM_001379110.1(SLC9A6):c.856_864del (p.Gly286_Ala288del)10479SLC9A6Pathogenic398122849RCV000022841; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135092713135092721X:g.135092713_135092721delClinGen:CA128786,OMIM:300231.0005C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.885+5C>T10479SLC9A6Uncertain significance2070901186RCV001298393|RCV001751571; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MedGen:C3661900X135092747135092747135092747-
NM_001379110.1(SLC9A6):c.885+7T>G10479SLC9A6Uncertain significance886044788RCV000350312|RCV002518845; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135092749135092749X:g.135092749T>GClinGen:CA10604106CN169374 not specified;
NM_001379110.1(SLC9A6):c.885+10T>C10479SLC9A6Likely benign782141848RCV002105512; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135092752135092752135092752-
NM_001379110.1(SLC9A6):c.886-17A>G10479SLC9A6Likely benign2070950996RCV002189683; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095091135095091135095091-
NM_001379110.1(SLC9A6):c.886-1C>A10479SLC9A6Pathogenic149044510RCV001784991; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095107135095107135095107-
NM_001379110.1(SLC9A6):c.886G>A (p.Val296Met)10479SLC9A6Uncertain significance1556618832RCV000532326; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095108135095108X:g.135095108G>AClinGen:CA414751479C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.902A>G (p.Lys301Arg)10479SLC9A6Uncertain significance2148173863RCV001953106; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095124135095124135095124-
NM_001379110.1(SLC9A6):c.916C>T (p.Gln306Ter)10479SLC9A6Pathogenic398124224RCV000081397|RCV001507034; NMedGen:C3661900|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095138135095138X:g.135095138C>TClinGen:CA222934CN517202 not provided;
NM_001379110.1(SLC9A6):c.932G>A (p.Gly311Asp)10479SLC9A6Uncertain significance-1RCV003017247; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095154135095154NC_000023.10:g.135095154G>A-
NM_001379110.1(SLC9A6):c.933C>A (p.Gly311=)10479SLC9A6Likely benign1312175298RCV002217167; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095155135095155135095155-
NM_001379110.1(SLC9A6):c.953G>A (p.Trp318Ter)10479SLC9A6Pathogenic-1RCV003051683; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095175135095175NC_000023.10:g.135095175G>A-
NM_001379110.1(SLC9A6):c.959C>G (p.Thr320Ser)10479SLC9A6Uncertain significance2148173982RCV001944253; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095181135095181135095181-
NM_001379110.1(SLC9A6):c.960C>G (p.Thr320=)10479SLC9A6Likely benign1060504686RCV001493415; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095182135095182NC_000023.10:g.135095182C>GClinGen:CA16616633C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.971C>T (p.Ala324Val)10479SLC9A6Uncertain significance2070952678RCV001222469; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095193135095193X:g.135095193C>T-
NM_001379110.1(SLC9A6):c.982G>A (p.Gly328Ser)10479SLC9A6Uncertain significance1327086146RCV001302383; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095204135095204135095204-
NM_001379110.1(SLC9A6):c.991+1G>A10479SLC9A6Likely pathogenic-1RCV002807277; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095214135095214NC_000023.10:g.135095214G>A-
NM_001379110.1(SLC9A6):c.991+15C>G10479SLC9A6Likely benign2148174041RCV002144092; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095228135095228135095228-
NM_001379110.1(SLC9A6):c.992-3T>C10479SLC9A6Uncertain significance2070958568RCV001245424; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095505135095505X:g.135095505T>C-
NM_001379110.1(SLC9A6):c.992G>A (p.Gly331Asp)10479SLC9A6Pathogenic782108464RCV001004677; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095508135095508X:g.135095508G>A-
NM_001379110.1(SLC9A6):c.1005A>G (p.Val335=)10479SLC9A6Benign/Likely benign782706500RCV002067052|RCV002316693; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MeSH:D030342,MedGen:C0950123X135095521135095521NC_000023.10:g.135095521A>G-
NM_001379110.1(SLC9A6):c.1026A>G (p.Gln342=)10479SLC9A6Uncertain significance1556618901RCV001969221; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095542135095542135095542-
NM_001379110.1(SLC9A6):c.1029A>C (p.Ala343=)10479SLC9A6Benign142049079RCV000147536|RCV000475960|RCV002312604; NMedGen:CN169374|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MeSH:D030342,MedGen:C0950123X135095545135095545X:g.135095545A>CClinGen:CA295164C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.1037C>T (p.Thr346Met)10479SLC9A6Uncertain significance2148174486RCV001906210; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095553135095553135095553-
NM_001379110.1(SLC9A6):c.1038G>A (p.Thr346=)10479SLC9A6Likely benign782783023RCV000616075|RCV001503135; NMedGen:CN169374|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095554135095554X:g.135095554G>AClinGen:CA10524756CN169374 not specified;
NM_001379110.1(SLC9A6):c.1038G>T (p.Thr346=)10479SLC9A6Likely benign782783023RCV000828607|RCV001458153; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095554135095554X:g.135095554G>T-
NM_001379110.1(SLC9A6):c.1055C>T (p.Thr352Met)10479SLC9A6Uncertain significance782819852RCV001919797; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095571135095571135095571-
NM_001379110.1(SLC9A6):c.1059G>A (p.Glu353=)10479SLC9A6Benign-1RCV003071507; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095575135095575-
NM_001379110.1(SLC9A6):c.1080+10A>G10479SLC9A6Benign191388209RCV002115697; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095606135095606135095606-
NM_001379110.1(SLC9A6):c.1080+17A>G10479SLC9A6Uncertain significance2070960570RCV001334542; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135095613135095613135095613-
NM_001379110.1(SLC9A6):c.1080+80dup10479SLC9A6Benign/Likely benign35492327RCV000990951|RCV001559949; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MedGen:CN517202X135095664135095665X:g.135095664_135095665insA-
NM_001379110.1(SLC9A6):c.1081-18T>C10479SLC9A6Likely benign376479501RCV002160925; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135098786135098786135098786-
NM_001379110.1(SLC9A6):c.1081-8C>T10479SLC9A6Likely benign1060504684RCV000473803; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135098796135098796NC_000023.10:g.135098796C>TClinGen:CA16616616C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.1081-7G>A10479SLC9A6Likely benign1556619293RCV002083326; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135098797135098797135098797-
NM_001379110.1(SLC9A6):c.1083G>A (p.Leu361=)10479SLC9A6Conflicting interpretations of pathogenicity151178361RCV000594833|RCV000720971|RCV001083801; NMedGen:C3661900|MedGen:C2711754|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135098806135098806NC_000023.10:g.135098806G>AClinGen:CA10524772C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.1119C>T (p.Ile373=)10479SLC9A6Conflicting interpretations of pathogenicity140158476RCV000862299|RCV002064449; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135098842135098842X:g.135098842C>T-
NM_001379110.1(SLC9A6):c.1128C>T (p.Tyr376=)10479SLC9A6Likely benign-1RCV002835132; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135098851135098851-
NM_001379110.1(SLC9A6):c.1132G>A (p.Gly378Arg)10479SLC9A6Uncertain significance-1RCV003016526; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135098855135098855NC_000023.10:g.135098855G>A-
NM_001379110.1(SLC9A6):c.1143_1144del (p.Phe382fs)10479SLC9A6Pathogenic/Likely pathogenic1064793575RCV000482382|RCV001004015|RCV001251111; NMedGen:C3661900|6 conditions|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135098865135098866X:g.135098865_135098866delClinGen:CA16621205CN517202 not provided;
NM_001379110.1(SLC9A6):c.1143G>A (p.Leu381=)10479SLC9A6Likely benign782501407RCV000418279|RCV001396840; NMedGen:CN169374|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135098866135098866X:g.135098866G>AClinGen:CA16608700CN169374 not specified;
NM_001379110.1(SLC9A6):c.1157A>G (p.Asn386Ser)10479SLC9A6Uncertain significance782772247RCV001360563; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135098880135098880135098880-
NM_001379110.1(SLC9A6):c.1164C>T (p.Val388=)10479SLC9A6Likely benign1556619315RCV000555538; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135098887135098887NC_000023.10:g.135098887C>TClinGen:CA518753566C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.1170C>T (p.Asn390=)10479SLC9A6Likely benign781953296RCV002186753; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135098893135098893135098893-
NM_001379110.1(SLC9A6):c.1186G>A (p.Gly396Arg)10479SLC9A6Likely pathogenic-1RCV003229503; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135098909135098909-
NM_001379110.1(SLC9A6):c.1189del (p.Ala397fs)10479SLC9A6Likely pathogenic-1RCV002467421; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135098912135098912NC_000023.10:g.135098912del-
NC_000023.10:g.(?_135104725)_(135106662_?)del10479SLC9A6Pathogenic-1RCV003109506; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135104725135106662-
NC_000023.10:g.(?_135104725)_(135104876_?)del10479SLC9A6Pathogenic-1RCV003109508; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135104725135104876-
NC_000023.10:g.(?_135104735)_(135106652_?)del10479SLC9A6Pathogenic-1RCV001387709; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135104735135106652-1-
NM_001379110.1(SLC9A6):c.1201A>G (p.Ile401Val)10479SLC9A6Uncertain significance-1RCV003110457; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135104751135104751NC_000023.10:g.135104751A>G-
NM_001379110.1(SLC9A6):c.1223A>G (p.Asn408Ser)10479SLC9A6Uncertain significance2148186858RCV001917326; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135104773135104773135104773-
NM_001379110.1(SLC9A6):c.1227T>C (p.Ile409=)10479SLC9A6Likely benign1556620031RCV001475893; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135104777135104777135104777-
NM_001379110.1(SLC9A6):c.1246_1249del (p.Leu416fs)10479SLC9A6Pathogenic2071147098RCV001221608; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135104792135104795X:g.135104792_135104795del-
NM_001379110.1(SLC9A6):c.1269G>C (p.Lys423Asn)10479SLC9A6Conflicting interpretations of pathogenicity781918578RCV001593567|RCV001866179; NMedGen:C3661900|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135104819135104819135104819-
NM_001379110.1(SLC9A6):c.1287A>G (p.Gln429=)10479SLC9A6Likely benign142161862RCV000189402|RCV001456305|RCV001721223; NMedGen:CN169374|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MedGen:C3661900X135104837135104837X:g.135104837A>GClinGen:CA318504CN169374 not specified;
NM_001379110.1(SLC9A6):c.1306+1G>C10479SLC9A6Uncertain significance-1RCV003151929; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135104857135104857-
NM_001379110.1(SLC9A6):c.1306+8G>A10479SLC9A6Benign/Likely benign6654310RCV000081394|RCV001522385|RCV002381402; NMedGen:CN169374|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MeSH:D030342,MedGen:C0950123X135104864135104864X:g.135104864G>AClinGen:CA285657CN169374 not specified;
NM_001379110.1(SLC9A6):c.1306+15_1306+18del10479SLC9A6Likely benign-1RCV002866167; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135104868135104871NC_000023.10:g.135104871_135104874del-
NM_001379110.1(SLC9A6):c.1306+16C>G10479SLC9A6Likely benign-1RCV002857546; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135104872135104872NC_000023.10:g.135104872C>G-
NM_001379110.1(SLC9A6):c.1307-20C>T10479SLC9A6Likely benign-1RCV002623244; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135106469135106469NC_000023.10:g.135106469C>T-
NM_001379110.1(SLC9A6):c.1307-19C>T10479SLC9A6Likely benign2148189827RCV002163445; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135106470135106470135106470-
NM_001379110.1(SLC9A6):c.1307-17T>C10479SLC9A6Likely benign1212441893RCV002101366; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135106472135106472135106472-
NM_001379110.1(SLC9A6):c.1307-12G>C10479SLC9A6Benign/Likely benign372153079RCV001588095|RCV002592487; NMedGen:C3661900|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135106477135106477135106477-
NM_001379110.1(SLC9A6):c.1307-8C>T10479SLC9A6Uncertain significance-1RCV003136827; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135106481135106481NC_000023.10:g.135106481C>T-
NM_001379110.1(SLC9A6):c.1307-1G>A10479SLC9A6Pathogenic1603215383RCV000845288; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135106488135106488X:g.135106488G>A-
NM_001379110.1(SLC9A6):c.1316G>A (p.Gly439Asp)10479SLC9A6Likely pathogenic1569525357RCV000700654; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135106498135106498NC_000023.10:g.135106498G>A-C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.1330G>A (p.Ala444Thr)10479SLC9A6Uncertain significance-1RCV002631829; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135106512135106512NC_000023.10:g.135106512G>A-
NM_001379110.1(SLC9A6):c.1338C>T (p.Ala446=)10479SLC9A6Likely benign-1RCV002881714; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135106520135106520-
NM_001379110.1(SLC9A6):c.1342C>T (p.Arg448Ter)10479SLC9A6Pathogenic122461162RCV000012232|RCV000627211; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MedGen:C3661900X135106524135106524X:g.135106524C>TClinGen:CA121507,OMIM:300231.0002C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.1385C>T (p.Thr462Met)10479SLC9A6Uncertain significance1229345478RCV001925505|RCV002557565|RCV003438893; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MeSH:D030342,MedGen:C0950123|MedGen:C3661900X135106567135106567135106567-
NM_001379110.1(SLC9A6):c.1420G>T (p.Gly474Cys)10479SLC9A6Uncertain significance2071193961RCV001338290; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135106602135106602135106602-
NM_001379110.1(SLC9A6):c.1423_1424insCA (p.Gly475fs)10479SLC9A6Likely pathogenic2148189993RCV001775316; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135106605135106606135106605-
NM_001379110.1(SLC9A6):c.1428C>T (p.Gly476=)10479SLC9A6Likely benign782370742RCV000525320; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135106610135106610X:g.135106610C>TClinGen:CA10524813C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.1434T>C (p.Thr478=)10479SLC9A6Likely benign1057520374RCV000431608|RCV001495795; NMedGen:CN169374|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135106616135106616X:g.135106616T>CClinGen:CA16608284CN169374 not specified;
NM_001379110.1(SLC9A6):c.1438dup (p.Met480fs)10479SLC9A6Pathogenic/Likely pathogenic2148190013RCV001577049|RCV002072270; NMedGen:C3661900|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135106618135106619135106618-
NM_001379110.1(SLC9A6):c.1460+4A>G10479SLC9A6Benign180727016RCV000081395|RCV000990952|RCV001705756|RCV002311631; NMedGen:CN169374|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MedGen:C3661900|MeSH:D030342,MedGen:C0950123X135106646135106646X:g.135106646A>GClinGen:CA285658C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.1460+6T>C10479SLC9A6Benign/Likely benign781963949RCV000981713|RCV001719114; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MedGen:C3661900X135106648135106648X:g.135106648T>CClinGen:CA336248940CN169374 not specified;
NM_001379110.1(SLC9A6):c.1460+10A>G10479SLC9A6Benign185533973RCV000128156|RCV000463980; NMedGen:CN169374|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135106652135106652X:g.135106652A>GClinGen:CA293617C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.1551-19C>T10479SLC9A6Likely benign-1RCV002918019; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135112272135112272NC_000023.10:g.135112272C>T-
NM_001379110.1(SLC9A6):c.1551-18T>G10479SLC9A6Likely benign782056708RCV002111591; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135112273135112273135112273-
NM_001379110.1(SLC9A6):c.1551-11T>C10479SLC9A6Likely benign147479371RCV001688664|RCV002073243; NMedGen:C3661900|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135112280135112280135112280-
NM_001379110.1(SLC9A6):c.1551-6C>T10479SLC9A6Likely benign-1RCV002601680; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135112285135112285NC_000023.10:g.135112285C>T-
NM_001379110.1(SLC9A6):c.1555G>A (p.Gly519Ser)10479SLC9A6Uncertain significance782731165RCV001213237; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135112295135112295X:g.135112295G>A-
NM_001379110.1(SLC9A6):c.1566A>C (p.Ser522=)10479SLC9A6Likely benign781843930RCV001501049; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135112306135112306X:g.135112306A>C-
NM_001379110.1(SLC9A6):c.1573G>T (p.Glu525Ter)10479SLC9A6Pathogenic398123003RCV000077787; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135112313135112313X:g.135112313G>TClinGen:CA145508,OMIM:300231.0006C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.1578C>T (p.His526=)10479SLC9A6Likely benign782430960RCV001469062|RCV002405101; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MeSH:D030342,MedGen:C0950123X135112318135112318135112318-
NM_001379110.1(SLC9A6):c.1581+11G>A10479SLC9A6Benign375145994RCV000128157|RCV002055811; NMedGen:CN169374|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135112332135112332X:g.135112332G>AClinGen:CA293618CN169374 not specified;
NM_001379110.1(SLC9A6):c.1581+15T>C10479SLC9A6Likely benign990491678RCV002096719; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135112336135112336135112336-
NM_001379110.1(SLC9A6):c.1581+17G>A10479SLC9A6Likely benign917623322RCV000841339|RCV002536130; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135112338135112338X:g.135112338G>A-
NM_001379110.1(SLC9A6):c.1582-9T>C10479SLC9A6Likely benign782039050RCV002179477; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135115564135115564135115564-
NM_001379110.1(SLC9A6):c.1582-3C>T10479SLC9A6Benign563279759RCV000194620|RCV000540036|RCV001729404; NMedGen:CN169374|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MedGen:C3661900X135115570135115570X:g.135115570C>TClinGen:CA208905C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.1582G>A (p.Gly528Ser)10479SLC9A6Uncertain significance2071360759RCV001223382; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135115573135115573X:g.135115573G>A-
NM_001379110.1(SLC9A6):c.1588C>A (p.Pro530Thr)10479SLC9A6Uncertain significance782145804RCV000189422|RCV001346203; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135115579135115579X:g.135115579C>AClinGen:CA318547CN169374 not specified;
NM_001379110.1(SLC9A6):c.1588C>G (p.Pro530Ala)10479SLC9A6Uncertain significance782145804RCV002038715; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135115579135115579135115579-
NM_001379110.1(SLC9A6):c.1599_1603del (p.Arg534fs)10479SLC9A6Pathogenic1603219805RCV000995874; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135115588135115592X:g.135115588_135115592del-
NM_001379110.1(SLC9A6):c.1636C>T (p.Arg546Trp)10479SLC9A6Uncertain significance-1RCV002639261; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135115627135115627NC_000023.10:g.135115627C>T-
NM_001379110.1(SLC9A6):c.1637G>A (p.Arg546Gln)10479SLC9A6Benign/Likely benign146263125RCV000174756|RCV000223989|RCV001080901|RCV001251650|RCV002312605; NMedGen:CN169374|MedGen:C3661900|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 PhenotypX135115628135115628X:g.135115628G>AClinGen:CA302758C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.1638G>T (p.Arg546=)10479SLC9A6Uncertain significance2148201776RCV002017677; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135115629135115629135115629-
NM_001379110.1(SLC9A6):c.1638G>A (p.Arg546=)10479SLC9A6Likely benign2148201776RCV002143959; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135115629135115629135115629-
NM_001379110.1(SLC9A6):c.1644del (p.Trp548fs)10479SLC9A6Pathogenic2148201789RCV002012056; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135115634135115634135115633-
NM_001379110.1(SLC9A6):c.1661+28dup10479SLC9A6Benign376371956RCV002124929; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135115669135115670135115669-
NM_001379110.1(SLC9A6):c.1661+18A>G10479SLC9A6Likely benign782141247RCV002195275; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135115670135115670135115670-
NM_001379110.1(SLC9A6):c.1661+28del10479SLC9A6Benign376371956RCV002129799; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135115670135115670135115669-
NM_001379110.1(SLC9A6):c.1662-4G>A10479SLC9A6Benign188072063RCV000147538|RCV000228298|RCV000857967|RCV002312606; NMedGen:CN169374|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MedGen:C3661900|MeSH:D030342,MedGen:C0950123X135122231135122231X:g.135122231G>AClinGen:CA173494C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.1664A>G (p.Tyr555Cys)10479SLC9A6Uncertain significance-1RCV002607378; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135122237135122237NC_000023.10:g.135122237A>G-
NM_001379110.1(SLC9A6):c.1689C>T (p.Ser563=)10479SLC9A6Benign/Likely benign2307131RCV000147539|RCV000460704|RCV002312607; NMedGen:CN169374|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MeSH:D030342,MedGen:C0950123X135122262135122262X:g.135122262C>TClinGen:CA295167C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.1690G>A (p.Gly564Arg)10479SLC9A6Uncertain significance782196157RCV001928164; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135122263135122263135122263-
NM_001379110.1(SLC9A6):c.1698G>A (p.Pro566=)10479SLC9A6Likely benign1060504687RCV001472348; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135122271135122271NC_000023.10:g.135122271G>AClinGen:CA16616635C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.1711C>T (p.Leu571Phe)10479SLC9A6Uncertain significance149360465RCV001325395; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135122284135122284135122284-
NM_001379110.1(SLC9A6):c.1718C>G (p.Ala573Gly)10479SLC9A6Uncertain significance-1RCV003040509; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135122291135122291NC_000023.10:g.135122291C>G-
NM_001379110.1(SLC9A6):c.1721G>A (p.Cys574Tyr)10479SLC9A6Uncertain significance2148211264RCV001907739; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135122294135122294135122294-
NM_001379110.1(SLC9A6):c.1727G>A (p.Gly576Glu)10479SLC9A6Uncertain significance2071482037RCV001233445; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135122300135122300X:g.135122300G>A-
NM_001379110.1(SLC9A6):c.1728A>G (p.Gly576=)10479SLC9A6Likely benign2148211280RCV001490467; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135122301135122301135122301-
NM_001379110.1(SLC9A6):c.1734C>T (p.Ile578=)10479SLC9A6Likely benign375760367RCV001436660|RCV001655724; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MedGen:C3661900X135122307135122307135122307-
NM_001379110.1(SLC9A6):c.1738A>T (p.Arg580Trp)10479SLC9A6Uncertain significance144661402RCV001586713|RCV002573338; NMedGen:C3661900|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135122311135122311135122311-
NM_001379110.1(SLC9A6):c.1746C>G (p.Leu582=)10479SLC9A6Likely benign-1RCV003015159; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135122319135122319-
NM_001379110.1(SLC9A6):c.1764C>T (p.Tyr588=)10479SLC9A6Likely benign2071482902RCV001435193; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135122337135122337135122337-
NM_001379110.1(SLC9A6):c.1765G>A (p.Glu589Lys)10479SLC9A6Uncertain significance1556622379RCV001303447; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135122338135122338135122338-
NM_001379110.1(SLC9A6):c.1767+9G>A10479SLC9A6Likely benign-1RCV002999557; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135122349135122349NC_000023.10:g.135122349G>A-
NM_001379110.1(SLC9A6):c.1767+12T>G10479SLC9A6Likely benign-1RCV002756541; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135122352135122352NC_000023.10:g.135122352T>G-
NM_001379110.1(SLC9A6):c.1768-6A>G10479SLC9A6Likely benign1556623179RCV000501576|RCV001461996; NMedGen:CN169374|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126605135126605NC_000023.10:g.135126605A>GClinGen:CA644626142CN169374 not specified;
NM_001379110.1(SLC9A6):c.1768A>C (p.Asn590His)10479SLC9A6Uncertain significance2071563497RCV001313742; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126611135126611135126611-
NM_001379110.1(SLC9A6):c.1770C>T (p.Asn590=)10479SLC9A6Likely benign-1RCV002770513; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126613135126613-
NM_001379110.1(SLC9A6):c.1814A>T (p.Asp605Val)10479SLC9A6Uncertain significance1556623185RCV002266689; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126657135126657135126657-
NM_001379110.1(SLC9A6):c.1826G>A (p.Ser609Asn)10479SLC9A6Uncertain significance1401623269RCV001889808; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126669135126669135126669-
NM_001379110.1(SLC9A6):c.1832C>T (p.Thr611Ile)10479SLC9A6Uncertain significance2071564662RCV001237236; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126675135126675X:g.135126675C>T-
NM_001379110.1(SLC9A6):c.1833A>T (p.Thr611=)10479SLC9A6Likely benign782629258RCV000871440|RCV002317633; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MeSH:D030342,MedGen:C0950123X135126676135126676NC_000023.10:g.135126676A>T-
NM_001379110.1(SLC9A6):c.1839A>T (p.Gly613=)10479SLC9A6Likely benign1556623192RCV001447300; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126682135126682135126682-
NM_001379110.1(SLC9A6):c.1844C>T (p.Ser615Phe)10479SLC9A6Likely benign782178607RCV001446311; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126687135126687135126687-
NM_001379110.1(SLC9A6):c.1857T>C (p.Thr619=)10479SLC9A6Likely benign398124223RCV000081396|RCV003105788; NMedGen:CN169374|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126700135126700X:g.135126700T>CClinGen:CA222931CN169374 not specified;
NM_001379110.1(SLC9A6):c.1862C>T (p.Pro621Leu)10479SLC9A6Likely benign782442071RCV001394571|RCV002413932; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278|MeSH:D030342,MedGen:C0950123X135126705135126705135126705-
NM_001379110.1(SLC9A6):c.1863G>A (p.Pro621=)10479SLC9A6Likely benign782665428RCV000713359|RCV002534518; NMedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126706135126706NC_000023.10:g.135126706G>A-
NM_001379110.1(SLC9A6):c.1869A>T (p.Thr623=)10479SLC9A6Likely benign2071565905RCV002137043; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126712135126712135126712-
NM_001379110.1(SLC9A6):c.1871C>A (p.Ser624Tyr)10479SLC9A6Uncertain significance-1RCV002903632; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126714135126714NC_000023.10:g.135126714C>A-
NM_001379110.1(SLC9A6):c.1873A>G (p.Ser625Gly)10479SLC9A6Uncertain significance558960349RCV000646195; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126716135126716NC_000023.10:g.135126716A>GClinGen:CA336249943C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.1875C>T (p.Ser625=)10479SLC9A6Likely benign-1RCV003069840; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126718135126718-
NM_001379110.1(SLC9A6):c.1876G>A (p.Ala626Thr)10479SLC9A6Uncertain significance1556623211RCV001342341; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126719135126719135126719-
NM_001379110.1(SLC9A6):c.1887A>G (p.Arg629=)10479SLC9A6Benign782350079RCV002185126; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126730135126730135126730-
NM_001379110.1(SLC9A6):c.1891A>G (p.Met631Val)10479SLC9A6Uncertain significance-1RCV003136828; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126734135126734NC_000023.10:g.135126734A>G-
NM_001379110.1(SLC9A6):c.1900A>G (p.Ser634Gly)10479SLC9A6Likely benign-1RCV003065882; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126743135126743NC_000023.10:g.135126743A>G-
NM_001379110.1(SLC9A6):c.1922G>A (p.Arg641Gln)10479SLC9A6Benign781912974RCV001516540; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126765135126765135126765-
NM_001379110.1(SLC9A6):c.1934T>G (p.Phe645Cys)10479SLC9A6Uncertain significance2071567769RCV001035156; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126777135126777X:g.135126777T>G-
NM_001379110.1(SLC9A6):c.1951G>A (p.Val651Ile)10479SLC9A6Uncertain significance-1RCV002932680; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126794135126794NC_000023.10:g.135126794G>A-
NM_001379110.1(SLC9A6):c.1953C>T (p.Val651=)10479SLC9A6Likely benign-1RCV002810276; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126796135126796-
NM_001379110.1(SLC9A6):c.1955T>C (p.Ile652Thr)10479SLC9A6Uncertain significance2071568073RCV001919584; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126798135126798135126798-
NM_001379110.1(SLC9A6):c.1958G>T (p.Arg653Leu)10479SLC9A6Uncertain significance1177738754RCV001372697; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126801135126801135126801-
NM_001379110.1(SLC9A6):c.1958G>A (p.Arg653Gln)10479SLC9A6Uncertain significance1177738754RCV001995111; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126801135126801135126801-
NM_001379110.1(SLC9A6):c.1983G>A (p.Met661Ile)10479SLC9A6Uncertain significance782730126RCV002001282; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126826135126826135126826-
NM_001379110.1(SLC9A6):c.1992T>G (p.Ser664=)10479SLC9A6Likely benign782053418RCV002168293; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126835135126835135126835-
NM_001379110.1(SLC9A6):c.1996C>T (p.Pro666Ser)10479SLC9A6Uncertain significance2071569462RCV001216484; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126839135126839X:g.135126839C>T-
NM_001379110.1(SLC9A6):c.2000C>T (p.Pro667Leu)10479SLC9A6Uncertain significance782228236RCV002038025; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126843135126843135126843-
NM_001379110.1(SLC9A6):c.2001G>A (p.Pro667=)10479SLC9A6Likely benign782708610RCV000295638|RCV001516730; NMedGen:C3661900|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126844135126844X:g.135126844G>AClinGen:CA10524885CN169374 not specified;
NM_001379110.1(SLC9A6):c.2006A>G (p.Asn669Ser)10479SLC9A6Uncertain significance370119753RCV001933537; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126849135126849135126849-
NM_001379110.1(SLC9A6):c.2012T>G (p.Leu671Ter)10479SLC9A6Pathogenic587784399RCV000147541; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126855135126855NC_000023.10:g.135126855T>GClinGen:CA173496C2678194 300243 Christianson syndrome;
NM_001379110.1(SLC9A6):c.2018A>G (p.Asn673Ser)10479SLC9A6Uncertain significance2071570215RCV001319777; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126861135126861135126861-
NM_001379110.1(SLC9A6):c.2019T>C (p.Asn673=)10479SLC9A6Likely benign1603225936RCV002143900; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126862135126862135126862-
NM_001379110.1(SLC9A6):c.2021C>T (p.Thr674Met)10479SLC9A6Conflicting interpretations of pathogenicity886044780RCV000316927|RCV000724968|RCV001321181; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126864135126864X:g.135126864C>TClinGen:CA10603972CN169374 not specified;
NM_001379110.1(SLC9A6):c.2022G>A (p.Thr674=)10479SLC9A6Benign781885129RCV001510862; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126865135126865135126865-
NM_001379110.1(SLC9A6):c.2031T>A (p.Gly677=)10479SLC9A6Likely benign1603225948RCV001466320; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126874135126874X:g.135126874T>A-
NM_001379110.1(SLC9A6):c.2039A>G (p.Ter680=)10479SLC9A6Uncertain significance-1RCV002858104; NMONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135126882135126882NC_000023.10:g.135126882A>G-
NM_001379110.1(SLC9A6):c.*8A>T10479SLC9A6Benign200171451RCV000128162|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 PhenotypX135126891135126891X:g.135126891A>TClinGen:CA293619CN169374 not specified;
NC_000023.10:g.(?_135067662)_(136652229_?)del-1subset of 12 genes: CD40LG:SLC9A6:ZIC3Pathogenic-1RCV001956452|RCV001956451|RCV003107929; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450|MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230, Orphanet:101088|MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243, Orphanet:85278X135067662136652229-1-
MSeqDR Portal