MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:5632
Name:Heterotaxy, visceral, X-linked
Definition:
Alternative IDs:OMIM:306955
ParentIDs:MESH:D003914|MESH:D040181|MESH:D059446
TreeNumbers:C14.240.400.280/C538116 |C14.240.400.592/C538116 |C14.280.400.280/C538116 |C14.280.400.592/C538116 |C15.604.744.146/C538116 |C16.131.077.401/C538116 |C16.131.240.400.280/C538116 |C16.131.240.400.592/C538116 |C16.131.810.250/C538116 |C16.320.322/C538116
Synonyms:CHTD1, INCLUDED |Dextrocardia with other cardiac malformations |Heterotaxy, Visceral, 1, X-Linked |Heterotaxy, Visceral, 5, Autosomal |HTX1 |Laterality, X-linked |Situs inversus, complex cardiac defects, and splenic defects, X-linked |SITUS INVERSUS, COMPLEX CA
Slim Mappings:Cardiovascular disease|Congenital abnormality|Genetic disease (inborn)|Lymphatic disease
Reference: MedGen: C538116
MeSH: C538116
OMIM: 306955;
MSeqDR LSDB:  
Genes: GLI3; ZIC3;
Phenotypes
1 HP:0001417X-linked inheritance
2 HP:0001419X-linked recessive inheritance
3 HP:0003363Abdominal situs inversus
4 HP:0001746Asplenia
5 HP:0001631Atrial septal defect
6 HP:0001640Cardiomegaly
7 HP:0011565Common atrium
8 HP:0001651Dextrocardia
9 HP:0001508Failure to thrive
10 HP:0000316Hypertelorism
11 HP:0011560Mitral atresia
12 HP:0001643Patent ductus arteriosus
13 HP:0003812Phenotypic variability
14 HP:0001748Polysplenia
15 HP:0012890Posteriorly placed anus
16 HP:0001642Pulmonic stenosis
17 HP:0000104Renal agenesis
18 HP:0001750Single ventricle
19 HP:0001669Transposition of the great arteries
20 HP:0001629Ventricular septal defect
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000023.10:g.(?_135067662)_(136652229_?)del-1subset of 12 genes: CD40LG:SLCPathogenic-1RCV001956451|RCV001956452; NMONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230, Orphanet:101088|MONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X135067662136652229nana-1-
NC_000023.10:g.36649710_136649711del100000002insG7547ZIC3Pathogenic-1RCV000754886; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X36649710136649711nana-
NM_003413.4(ZIC3):c.-479C>T7547ZIC3Uncertain significancers1022475218RCV000305791|RCV000340786|RCV000399858; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450|MedGen:CN239150|MONDO:MONDO:0010752,MedGen:C2931228,OMIM:314390, Orphanet:3412X136648372136648372CTX:g.136648372C>TClinGen:CA10651727CN239150 Congenital heart defects 1, nonsyndromic, 1;
NM_003413.4(ZIC3):c.-424C>A7547ZIC3Uncertain significancers933941596RCV001166384|RCV001166383; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450|MONDO:MONDO:0010752,MedGen:C2931228,OMIM:314390, Orphanet:3412X136648427136648427CAX:g.136648427C>A-
NM_003413.4(ZIC3):c.-335C>T7547ZIC3Uncertain significancers181414932RCV001166385|RCV001166386; NMONDO:MONDO:0010752,MedGen:C2931228,OMIM:314390, Orphanet:3412|MONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136648516136648516CTX:g.136648516C>T-
NM_003413.4(ZIC3):c.-169A>C7547ZIC3Uncertain significancers1931342053RCV001166387|RCV001166907; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450|MONDO:MONDO:0010752,MedGen:C2931228,OMIM:314390, Orphanet:3412X136648682136648682ACX:g.136648682A>C-
NC_000023.10:g.(?_136648845)_(136652234_?)dup7547ZIC3Uncertain significance-1RCV001372241; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136648845136652234nana-1-
NM_003413.4(ZIC3):c.18C>T (p.Asp6=)7547ZIC3Likely benignrs1602742253RCV000932580|RCV001477800; NMedGen:CN517202|MONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136648868136648868CTX:g.136648868C>T-
NM_003413.4(ZIC3):c.19G>C (p.Gly7Arg)7547ZIC3Conflicting interpretations of pathogenicityrs763534805RCV000479375|RCV001856821; NMedGen:CN517202|MONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136648869136648869GCX:g.136648869G>CClinGen:CA16621213CN517202 not provided;
NM_003413.4(ZIC3):c.49G>T (p.Gly17Cys)7547ZIC3Conflicting interpretations of pathogenicityrs147232392RCV000198780|RCV000201846|RCV000248648|RCV000360572|RCV001563202; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450|MONDO:MONDO:0010752,MedGen:C2931228,OMIM:314390, Orphanet:3412|MedGen:CN169374|MedGen:CN239150|MedGen:CN517202X136648899136648899GTX:g.136648899G>TClinGen:CA212542,UniProtKB:O60481#VAR_071330CN239150 Congenital heart defects 1, nonsyndromic, 1;
NM_003413.4(ZIC3):c.92A>T (p.Glu31Val)7547ZIC3Uncertain significancers752686913RCV001235634; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136648942136648942ATX:g.136648942A>T-
NM_003413.4(ZIC3):c.97G>T (p.Ala33Ser)7547ZIC3Uncertain significance-1RCV001991359; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136648947136648947GT136648947-
NM_003413.4(ZIC3):c.98C>T (p.Ala33Val)7547ZIC3Likely benignrs201398331RCV000640719; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136648948136648948CTX:g.136648948C>TClinGen:CA10529262C1844020 306955 Heterotaxy, visceral, X-linked;
NM_003413.4(ZIC3):c.105G>A (p.Met35Ile)7547ZIC3Uncertain significancers1931349869RCV001336036; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136648955136648955GA136648955-
NM_003413.4(ZIC3):c.116C>T (p.Pro39Leu)7547ZIC3Uncertain significancers1302645424RCV001166909|RCV001166908; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450|MONDO:MONDO:0010752,MedGen:C2931228,OMIM:314390, Orphanet:3412X136648966136648966CTX:g.136648966C>T-
NM_003413.4(ZIC3):c.128C>A (p.Ser43Ter)7547ZIC3Pathogenicrs1569345504RCV000754889; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136648978136648978CANC_000023.10:g.136648978C>A-
NM_003413.4(ZIC3):c.128C>G (p.Ser43Ter)7547ZIC3Pathogenicrs1569345504RCV001057896; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136648978136648978CGX:g.136648978C>G-
NM_003413.4(ZIC3):c.131C>G (p.Thr44Ser)7547ZIC3Conflicting interpretations of pathogenicityrs78870836RCV000274738|RCV000329757|RCV000355474; NMedGen:CN239150|MONDO:MONDO:0010752,MedGen:C2931228,OMIM:314390, Orphanet:3412|MONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136648981136648981CGX:g.136648981C>GClinGen:CA10529264CN239150 Congenital heart defects 1, nonsyndromic, 1;
NM_003413.4(ZIC3):c.135CGC[10] (p.Ala55dup)7547ZIC3Conflicting interpretations of pathogenicityrs748325646RCV000251685|RCV000824720|RCV001084923; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136648984136648985AACGCNC_000023.10:g.136648985CGC[10]ClinGen:CA10529265C1844020 306955 Heterotaxy, visceral, X-linked;
NM_003413.4(ZIC3):c.135CGC[11] (p.Ala54_Ala55dup)7547ZIC3Uncertain significancers748325646RCV000470529; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136648984136648985AACGCCGCNC_000023.10:g.136648985CGC[11]ClinGen:CA10529269C1844020 306955 Heterotaxy, visceral, X-linked;
NM_003413.4(ZIC3):c.135CGC[6] (p.Ala53_Ala55del)7547ZIC3Benignrs748325646RCV000543613|RCV001509892; NMedGen:CN517202|MONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136648985136648993ACGCCGCCGCAX:g.136648985_136648993delClinGen:CA10529266C1844020 306955 Heterotaxy, visceral, X-linked;
NM_003413.4(ZIC3):c.135CGC[7] (p.Ala54_Ala55del)7547ZIC3Uncertain significancers748325646RCV000822519; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136648985136648990ACGCCGCAX:g.136648985_136648990del-
NM_003413.4(ZIC3):c.141C>T (p.Ala47=)7547ZIC3Likely benignrs771406033RCV000873433|RCV001422837; NMedGen:CN517202|MONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136648991136648991CTX:g.136648991C>T-
NM_003413.4(ZIC3):c.135CGC[8] (p.Ala55del)7547ZIC3Conflicting interpretations of pathogenicityrs748325646RCV000694874; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136649009136649011ACGCANC_000023.10:g.136648985CGC[8]-C1844020 306955 Heterotaxy, visceral, X-linked;
NM_003413.4(ZIC3):c.162T>C (p.Ala54=)7547ZIC3Benignrs62637689RCV000126381|RCV000476035; NMedGen:CN169374|MONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136649012136649012TCX:g.136649012T>CClinGen:CA291686C1844020 306955 Heterotaxy, visceral, X-linked;
NM_003413.4(ZIC3):c.251C>G (p.Ala84Gly)7547ZIC3Uncertain significance-1RCV001990940; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136649101136649101CG136649101-
NM_003413.4(ZIC3):c.270C>T (p.His90=)7547ZIC3Conflicting interpretations of pathogenicityrs369721947RCV000591132|RCV001511525; NMedGen:CN517202|MONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136649120136649120CTX:g.136649120C>TClinGen:CA10529282CN169374 not specified;
NM_003413.4(ZIC3):c.326C>G (p.Ser109Cys)7547ZIC3Uncertain significancers373628598RCV001348649; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136649176136649176CG136649176-
NM_003413.4(ZIC3):c.366G>A (p.Gln122=)7547ZIC3Likely benign-1RCV001484648; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136649216136649216GA136649216-
NM_003413.4(ZIC3):c.420C>T (p.Phe140=)7547ZIC3Benignrs761546254RCV000878934|RCV001513538; NMedGen:CN517202|MONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136649270136649270CTX:g.136649270C>T-
NM_003413.4(ZIC3):c.426C>T (p.Gly142=)7547ZIC3Likely benign-1RCV001424156; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136649276136649276CT136649276-
NM_003413.4(ZIC3):c.429G>C (p.Ser143=)7547ZIC3Likely benign-1RCV002147108; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136649279136649279GC136649279-
NM_003413.4(ZIC3):c.476_479del (p.Tyr159fs)7547ZIC3Pathogenicrs1556029841RCV000540603; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136649325136649328CTACTCNC_000023.10:g.136649326_136649329delClinGen:CA658659048C1844020 306955 Heterotaxy, visceral, X-linked;
NM_003413.4(ZIC3):c.508_514del (p.Ala170fs)7547ZIC3Pathogenicrs1931360759RCV001223598; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136649354136649360AGGGCGCTAX:g.136649354_136649360del-
NM_003413.4(ZIC3):c.535dup (p.Val179fs)7547ZIC3Pathogenicrs1569345723RCV000691248; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136649384136649385CCGNC_000023.10:g.136649385dup-C1844020 306955 Heterotaxy, visceral, X-linked;
NM_003413.4(ZIC3):c.571del (p.Glu191fs)7547ZIC3Pathogenicrs1602742808RCV000800000; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136649418136649418TGTX:g.136649418_136649418del-
NM_003413.4(ZIC3):c.593_609del (p.Pro198fs)7547ZIC3Pathogenicrs1569345742RCV000754890; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136649441136649457ACCCATACCGCCCAGTGGANC_000023.10:g.136649443_136649459del-
NM_003413.4(ZIC3):c.607G>A (p.Ala203Thr)7547ZIC3Benign/Likely benignrs140823819RCV001166910|RCV001168621; NMONDO:MONDO:0010752,MedGen:C2931228,OMIM:314390, Orphanet:3412|MONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136649457136649457GAX:g.136649457G>A-
NM_003413.4(ZIC3):c.630C>T (p.Tyr210=)7547ZIC3Likely benignrs779878257RCV000253615|RCV002058136; NMedGen:CN169374|MONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136649480136649480CTX:g.136649480C>TClinGen:CA10529310CN169374 not specified;
NM_003413.4(ZIC3):c.649C>G (p.Pro217Ala)7547ZIC3Benign/Likely benignrs104894963RCV000012192|RCV000126382|RCV000275713|RCV000326072|RCV000370424|RCV000514533; NMedGen:C3151867|MedGen:CN169374|MONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450|MONDO:MONDO:0010752,MedGen:C2931228,OMIM:314390, Orphanet:3412|MedGen:CN239150|MedGen:CN517202X136649499136649499CGX:g.136649499C>GClinGen:CA121446,UniProtKB:O60481#VAR_025632,OMIM:300265.0007CN239150 Congenital heart defects 1, nonsyndromic, 1;
NM_003413.4(ZIC3):c.668A>G (p.Asn223Ser)7547ZIC3Uncertain significancers1034877221RCV001168622|RCV001168623; NMONDO:MONDO:0010752,MedGen:C2931228,OMIM:314390, Orphanet:3412|MONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136649518136649518AGX:g.136649518A>G-
NM_003413.4(ZIC3):c.739A>G (p.Ile247Val)7547ZIC3Benign-1RCV002115891; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136649589136649589AG136649589-
NM_003413.4(ZIC3):c.745C>T (p.Gln249Ter)7547ZIC3Pathogenicrs104894960RCV000012189; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136649595136649595CTX:g.136649595C>TClinGen:CA281605,OMIM:300265.0004C1844020 306955 Heterotaxy, visceral, X-linked;
NM_003413.4(ZIC3):c.755C>A (p.Ser252Ter)7547ZIC3Pathogenicrs1203069392RCV000754887; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136649605136649605CANC_000023.10:g.136649605C>A-
NM_003413.4(ZIC3):c.757T>A (p.Cys253Ser)7547ZIC3Pathogenicrs122463167RCV000754888; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136649607136649607TANC_000023.10:g.136649607T>A-
NM_003413.4(ZIC3):c.758G>C (p.Cys253Ser)7547ZIC3Pathogenicrs104894961RCV000012190; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136649608136649608GCX:g.136649608G>COMIM:300265.0005,ClinGen:CA281607,UniProtKB:O60481#VAR_025633C1844020 306955 Heterotaxy, visceral, X-linked;
NM_003413.4(ZIC3):c.763T>G (p.Trp255Gly)7547ZIC3Pathogenicrs122463168RCV000012194; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136649613136649613TGX:g.136649613T>GClinGen:CA281609,UniProtKB:O60481#VAR_042416,OMIM:300265.0009C1844020 306955 Heterotaxy, visceral, X-linked;
NM_003413.4(ZIC3):c.764G>C (p.Trp255Ser)7547ZIC3Likely pathogenicrs886041111RCV000258959; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136649614136649614GCNC_000023.10:g.136649614G>CClinGen:CA10602717C1844020 306955 Heterotaxy, visceral, X-linked;
NM_003413.4(ZIC3):c.804C>A (p.Cys268Ter)7547ZIC3Pathogenicrs122462166RCV000012187; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136649654136649654CAX:g.136649654C>AClinGen:CA281603,OMIM:300265.0002C1844020 306955 Heterotaxy, visceral, X-linked;
NM_003413.4(ZIC3):c.810del (p.Thr271fs)7547ZIC3Pathogenic-1RCV001935541; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136649659136649659CGC136649658-
NM_003413.4(ZIC3):c.860_864del (p.Val287fs)7547ZIC3Pathogenic-1RCV001389078; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136649709136649713TGTGGGT136649708-
NM_003413.4(ZIC3):c.861G>A (p.Val287=)7547ZIC3Benignrs61735159RCV000126383|RCV000230404; NMedGen:CN169374|MONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136649711136649711GAX:g.136649711G>AClinGen:CA291688C1844020 306955 Heterotaxy, visceral, X-linked;
NM_003413.4(ZIC3):c.870G>A (p.Pro290=)7547ZIC3Likely benign-1RCV002146458; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136649720136649720GA136649720-
NM_003413.4(ZIC3):c.882C>G (p.Asn294Lys)7547ZIC3Uncertain significancers1298851009RCV000690871; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136649732136649732CGNC_000023.10:g.136649732C>G-C1844020 306955 Heterotaxy, visceral, X-linked;
NM_003413.4(ZIC3):c.906C>T (p.Cys302=)7547ZIC3Benign/Likely benignrs779221820RCV000380783|RCV000291067|RCV000327705; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450|MedGen:CN239150|MONDO:MONDO:0010752,MedGen:C2931228,OMIM:314390, Orphanet:3412X136649756136649756CTX:g.136649756C>TClinGen:CA10529335CN239150 Congenital heart defects 1, nonsyndromic, 1;
NM_003413.4(ZIC3):c.912G>A (p.Arg304=)7547ZIC3Benignrs10126585RCV000234394|RCV000253727|RCV001510261; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136649762136649762GAX:g.136649762G>AClinGen:CA10529336C1844020 306955 Heterotaxy, visceral, X-linked;
NM_003413.4(ZIC3):c.958C>T (p.Arg320Ter)7547ZIC3Likely pathogenicrs1602743059RCV001007872; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136649808136649808CTX:g.136649808C>T-
NM_003413.4(ZIC3):c.968C>T (p.Thr323Met)7547ZIC3Pathogenicrs122462165RCV000012186; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136649818136649818CTX:g.136649818C>TClinGen:CA281602,UniProtKB:O60481#VAR_007753,OMIM:300265.0001C1844020 306955 Heterotaxy, visceral, X-linked;
NM_003413.4(ZIC3):c.972_973insTT (p.Glu325fs)7547ZIC3Pathogenic-1RCV000012193; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136649822136649823CCTTNC_000023.10:g.136649822_136649823insTTLOVD 3:ZIC3_000022,OMIM:300265.0008C1844020 306955 Heterotaxy, visceral, X-linked;
NM_003413.4(ZIC3):c.984C>G (p.Phe328Leu)7547ZIC3Uncertain significancers1266364318RCV001204790; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136649834136649834CGX:g.136649834C>G-
NM_003413.4(ZIC3):c.1050G>C (p.Arg350Ser)7547ZIC3Uncertain significancers1569345912RCV000687841; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136649900136649900GCNC_000023.10:g.136649900G>C-C1844020 306955 Heterotaxy, visceral, X-linked;
NM_003413.4(ZIC3):c.1069C>A (p.Pro357Thr)7547ZIC3Uncertain significancers1556030199RCV000530572; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136651069136651069CAX:g.136651069C>AClinGen:CA414771361C1844020 306955 Heterotaxy, visceral, X-linked;
NM_003413.4(ZIC3):c.1103del (p.Arg368fs)7547ZIC3Pathogenic/Likely pathogenic-1RCV001387447|RCV001420556; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450|MONDO:MONDO:0010752,MedGen:C2931228,OMIM:314390, Orphanet:3412X136651103136651103CGC136651102-
NM_003413.4(ZIC3):c.1161del (p.Tyr388fs)7547ZIC3Uncertain significancers1931397833RCV001057870; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136651159136651159GCGX:g.136651159_136651159del-
NM_003413.4(ZIC3):c.1184_1192del (p.Lys395_Tyr397del)7547ZIC3Uncertain significancers1931398545RCV001232636; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136651181136651189GACAAGTCCTGX:g.136651181_136651189del-
NM_003413.4(ZIC3):c.1194G>T (p.Thr398=)7547ZIC3Conflicting interpretations of pathogenicityrs143990850RCV000175749|RCV001433544; NMedGen:CN517202|MONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136651194136651194GTX:g.136651194G>TClinGen:CA241507C1844020 306955 Heterotaxy, visceral, X-linked;
NM_003413.4(ZIC3):c.1211G>T (p.Arg404Leu)7547ZIC3Uncertain significancers1931398768RCV001319815; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136651211136651211GT136651211-
NM_003413.4(ZIC3):c.1213A>G (p.Lys405Glu)7547ZIC3Pathogenicrs104894962RCV000012191; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136651213136651213AGX:g.136651213A>GClinGen:CA281608,UniProtKB:O60481#VAR_025635,OMIM:300265.0006C1844020 306955 Heterotaxy, visceral, X-linked;
NM_003413.4(ZIC3):c.1248T>G (p.Asp416Glu)7547ZIC3Benignrs755343529RCV000640718; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136652073136652073TGX:g.136652073T>GClinGen:CA10529392C1844020 306955 Heterotaxy, visceral, X-linked;
NM_003413.4(ZIC3):c.1342G>A (p.Val448Ile)7547ZIC3Benign/Likely benign-1RCV001512604|RCV001587447; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450|MedGen:CN517202X136652167136652167GA136652167-
NM_003413.4(ZIC3):c.*26T>C7547ZIC3Conflicting interpretations of pathogenicityrs370928726RCV001169385|RCV001168624; NMONDO:MONDO:0010752,MedGen:C2931228,OMIM:314390, Orphanet:3412|MONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136652255136652255TCX:g.136652255T>C-
NM_003413.4(ZIC3):c.*41A>G7547ZIC3Benign/Likely benignrs12387258RCV000342724|RCV000377698|RCV000283049; NMONDO:MONDO:0010752,MedGen:C2931228,OMIM:314390, Orphanet:3412|MedGen:CN239150|MONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136652270136652270AGX:g.136652270A>GClinGen:CA10529423CN239150 Congenital heart defects 1, nonsyndromic, 1;
NM_003413.4(ZIC3):c.*153A>G7547ZIC3Uncertain significancers1931418607RCV001169386|RCV001169387; NMONDO:MONDO:0010752,MedGen:C2931228,OMIM:314390, Orphanet:3412|MONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136652382136652382AGX:g.136652382A>G-
NM_003413.4(ZIC3):c.*260T>C7547ZIC3Uncertain significancers41299098RCV001169388|RCV001169389; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450|MONDO:MONDO:0010752,MedGen:C2931228,OMIM:314390, Orphanet:3412X136652489136652489TCX:g.136652489T>C-
NM_003413.4(ZIC3):c.*489A>G7547ZIC3Benign/Likely benignrs183286584RCV000334730|RCV000279785|RCV000398018; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450|MONDO:MONDO:0010752,MedGen:C2931228,OMIM:314390, Orphanet:3412|MedGen:CN239150X136652718136652718AGX:g.136652718A>GClinGen:CA10653809CN239150 Congenital heart defects 1, nonsyndromic, 1;
NM_003413.4(ZIC3):c.*750A>G7547ZIC3Uncertain significancers1931426956RCV001166443|RCV001166442; NMONDO:MONDO:0010752,MedGen:C2931228,OMIM:314390, Orphanet:3412|MONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136652979136652979AGX:g.136652979A>G-
NM_003413.4(ZIC3):c.*798_*802del7547ZIC3Uncertain significancers899320157RCV000299821|RCV000401459|RCV000368535; NMONDO:MONDO:0010752,MedGen:C2931228,OMIM:314390, Orphanet:3412|MedGen:CN239150|MONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136653023136653027CTTGTTCX:g.136653023_136653027delClinGen:CA10654269CN239150 Congenital heart defects 1, nonsyndromic, 1;
NM_003413.4(ZIC3):c.*1171_*1173del7547ZIC3Uncertain significancers1057515786RCV000369849|RCV000315114|RCV000402387; NMedGen:CN239150|MONDO:MONDO:0010752,MedGen:C2931228,OMIM:314390, Orphanet:3412|MONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136653400136653402CTTTCX:g.136653400_136653402delClinGen:CA10653810CN239150 Congenital heart defects 1, nonsyndromic, 1;
NM_003413.4(ZIC3):c.*1189A>G7547ZIC3Benign/Likely benignrs41300285RCV000269010|RCV000326395|RCV000364731; NMedGen:CN239150|MONDO:MONDO:0010752,MedGen:C2931228,OMIM:314390, Orphanet:3412|MONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450X136653418136653418AGX:g.136653418A>GClinGen:CA10651728CN239150 Congenital heart defects 1, nonsyndromic, 1;
NM_003413.4(ZIC3):c.*1237A>T7547ZIC3Uncertain significancers772508899RCV000377339|RCV000272400|RCV000320508; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450|MedGen:CN239150|MONDO:MONDO:0010752,MedGen:C2931228,OMIM:314390, Orphanet:3412X136653466136653466ATX:g.136653466A>TClinGen:CA10651730CN239150 Congenital heart defects 1, nonsyndromic, 1;
NM_003413.4(ZIC3):c.*1362T>G7547ZIC3Uncertain significancers775549541RCV001166444|RCV001166974; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450|MONDO:MONDO:0010752,MedGen:C2931228,OMIM:314390, Orphanet:3412X136653591136653591TGX:g.136653591T>G-
NM_003413.4(ZIC3):c.*1492T>C7547ZIC3Uncertain significancers1931437482RCV001166975|RCV001166976; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450|MONDO:MONDO:0010752,MedGen:C2931228,OMIM:314390, Orphanet:3412X136653721136653721TCX:g.136653721T>C-
NM_003413.4(ZIC3):c.*1540G>A7547ZIC3Conflicting interpretations of pathogenicityrs184855783RCV000285322|RCV000323790|RCV000371410; NMONDO:MONDO:0010752,MedGen:C2931228,OMIM:314390, Orphanet:3412|MONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450|MedGen:CN239150X136653769136653769GAX:g.136653769G>AClinGen:CA10646005CN239150 Congenital heart defects 1, nonsyndromic, 1;
NM_003413.4(ZIC3):c.*1581G>A7547ZIC3Uncertain significancers1308496629RCV001166977|RCV001166978; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450|MONDO:MONDO:0010752,MedGen:C2931228,OMIM:314390, Orphanet:3412X136653810136653810GAX:g.136653810G>A-
NM_003413.4(ZIC3):c.*1715A>G7547ZIC3Uncertain significancers1057515787RCV000336742|RCV000279299|RCV000397270; NMONDO:MONDO:0010752,MedGen:C2931228,OMIM:314390, Orphanet:3412|MONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450|MedGen:CN239150X136653944136653944AGX:g.136653944A>GClinGen:CA10654270CN239150 Congenital heart defects 1, nonsyndromic, 1;
NM_003413.4(ZIC3):c.*2024G>C7547ZIC3Benign/Likely benignrs113057036RCV000351497|RCV000397261|RCV000294271; NMONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955, Orphanet:450|MONDO:MONDO:0010752,MedGen:C2931228,OMIM:314390, Orphanet:3412|MedGen:CN239150X136654253136654253GCX:g.136654253G>CClinGen:CA10651731CN239150 Congenital heart defects 1, nonsyndromic, 1;
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