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:5421
Name:Heart Septal Defects, Ventricular
Definition:Developmental abnormalities in any portion of the VENTRICULAR SEPTUM resulting in abnormal communications between the two lower chambers of the heart. Classification of ventricular septal defects is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect.
Alternative IDs:DO:DOID:1657|OMIM:614429|OMIM:614431|OMIM:614432
ParentIDs:MESH:D006343
TreeNumbers:C14.240.400.560.540 |C14.280.400.560.540 |C16.131.240.400.560.540
Synonyms:Defect, Intraventricular Septal |Defects, Intraventricular Septal |Defect, Ventricular Septal |Intraventricular Septal Defect |Intraventricular Septal Defects |Septal Defect, Intraventricular |Septal Defects, Intraventricular |Septal Defects, Ventricular |Septal
Slim Mappings:Cardiovascular disease|Congenital abnormality
Reference: MedGen: D006345
MeSH: D006345
OMIM: 614429;
MSeqDR LSDB:  
Genes: CITED2; GATA4; NKX2-5;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001631Atrial septal defectHP:0040283
3 HP:0001642Pulmonic stenosisHP:0040283
4 HP:0001629Ventricular septal defect
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_002052.4(GATA4):c.127C>T (p.Arg43Trp)2626GATA4Uncertain significance387906770RCV000618680; RCV000023012; NMedGen:CN230736; MedGen:C3280777,OMIM:61442981156594811565948OMIM Allelic Variant:600576.0015,UniProtKB (protein):P43694#VAR_067606CN230736 Cardiovascular phenotype;
NM_002052.4(GATA4):c.263G>T (p.Gly88Val)2626GATA4Uncertain significance980402710RCV000765985; RCV000530941; RCV000765985; RCV000765985; RCV000765985; RCV000765985; NMedGen:C1842778,OMIM:607941; MedGen:C3280781,OMIM:614430; MedGen:C3280781,OMIM:614430; MedGen:C3809858,OMIM:615542; Human Phenotype Ontology:HP:0001636,MedGen:C0039685,OMIM:187500, Orphanet:ORPHA3303,SNOMED CT:86299006; MedGen:C3280777,OMIM:61442981156608411566084-C3280781 614430 Atrioventricular septal defect 4;
NM_002052.4(GATA4):c.487C>T (p.Pro163Ser)2626GATA4Conflicting interpretations of pathogenicity387906769RCV000023002; RCV000023004; RCV000023003; NMedGen:C3280781,OMIM:614430; Human Phenotype Ontology:HP:0001636,MedGen:C0039685,OMIM:187500, Orphanet:ORPHA3303,SNOMED CT:86299006; MedGen:C3280777,OMIM:61442981156630811566308OMIM Allelic Variant:600576.0007,UniProtKB (protein):P43694#VAR_067610C3280781 614430 Atrioventricular septal defect 4;
NM_002052.4(GATA4):c.886G>C (p.Gly296Arg)2626GATA4Pathogenic104894073RCV000023011; NMedGen:C3280777,OMIM:61442981160772211607722OMIM Allelic Variant:600576.0014,UniProtKB (protein):P43694#VAR_067613C3280777 614429 Ventricular septal defect 1;
NM_002052.4(GATA4):c.1075G>A (p.Glu359Lys)2626GATA4Pathogenic368489876RCV000023006; NMedGen:C3280777,OMIM:61442981161452111614521OMIM Allelic Variant:600576.0009,UniProtKB (protein):P43694#VAR_067617C3280777 614429 Ventricular septal defect 1;
NM_002052.4(GATA4):c.1220C>A (p.Pro407Gln)2626GATA4Conflicting interpretations of pathogenicity115099192RCV000490358; RCV000490358; RCV000526826; RCV000023008; RCV000030949; RCV000490358; NMedGen:C1842778,OMIM:607941; MedGen:C3280781,OMIM:614430; MedGen:C3280781,OMIM:614430; Human Phenotype Ontology:HP:0001636,MedGen:C0039685,OMIM:187500, Orphanet:ORPHA3303,SNOMED CT:86299006; MedGen:C3280777,OMIM:614429; MedGen:C3280777,OMIM:61442981161587511615875OMIM Allelic Variant:600576.0011,OMIM Allelic Variant:600576.0013,UniProtKB (protein):P43694#VAR_067619C1842778 607941 Atrial septal defect 2;
NM_002052.4(GATA4):c.1325C>T (p.Ala442Val)2626GATA4Pathogenic146017816RCV000023007; NMedGen:C3280777,OMIM:61442981161598011615980OMIM Allelic Variant:600576.0010,UniProtKB (protein):P43694#VAR_067623C3280777 614429 Ventricular septal defect 1;
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