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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Heart Septal Defects, Atrial (D006344)
..Starting node ..Atrial Septal Defect 4 (C566963)
Child Nodes:
Sister Nodes:
..3C syndrome (C535313)
..Atrial Septal Defect 1 (C566239)
..Atrial septal defect 2 (C538263)
..Atrial Septal Defect 3 (C563540)
..Atrial Septal Defect 4 (C566963)
..Atrial Septal Defect 5 (C567561)
..Atrial Septal Defect 6 (C567764)
..Atrial Septal Defect Ostium Primum (C548006)
..Atrial Septal Defect Sinus Venosus (C548009)
..Atrial Septal Defect with Atrioventricular Conduction Defects (C566238) 1
..Atrial Septal Defect, Primum Type (C566240)
..Atrial Septal Defect, Secundum Type (C566241)
..Atrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects (C566351)
..Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss (C537789)
..Ciuffo Syndrome (C566733)
..Dursun Syndrome (C567804)
..Foramen Ovale, Patent (D054092)
..Holt-Oram syndrome (C535326)
..Irons Bhan syndrome (C535539)
..Lutembacher Syndrome (D008185)
..Lymphedema, Cardiac Septal Defects, And Characteristic Facies (C567398)
..Oculootofacial Dysplasia (C563682)
..Radial Ray Deficiency, X-Linked (C564523)
..Rapadilino syndrome (C535288)
..Tel Hashomer camptodactyly syndrome (C536953)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1028

Name:

Atrial Septal Defect 4

Definition:

Alternative IDs:

OMIM:611363

ParentIDs:

MESH:D006344

TreeNumbers:

C14.240.400.560.375/C566963 |C14.280.400.560.375/C566963 |C16.131.240.400.560.375/C566963

Synonyms:

ASD4

Slim Mappings:

Cardiovascular disease|Congenital abnormality

Reference:

MedGen: C566963
MeSH: C566963
OMIM: 611363;

Genes: TBX20;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001680	Coarctation of aorta	HP:0040283
3	HP:0001655	Patent foramen ovale	HP:0040283

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_001077653.2(TBX20):c.*48T>A	57057	TBX20	Uncertain significance	483353005	RCV000119299;	N	MedGen:C1969657,OMIM:611363	7	35241994	35241994	NM_001077653.2:c.*48T>A		NC_000007.13:g.35241994A>T	-	C1969657 611363 Atrial septal defect 4
NM_001077653.2(TBX20):c.*13T>A	57057	TBX20	Uncertain significance	483353004	RCV000119298;	N	MedGen:C1969657,OMIM:611363	7	35242029	35242029	NM_001077653.2:c.*13T>A		NC_000007.13:g.35242029A>T	-	C1969657 611363 Atrial septal defect 4
NM_001077653.2(TBX20):c.*12A>T	57057	TBX20	Uncertain significance	483353000	RCV000119297;	N	MedGen:C1969657,OMIM:611363	7	35242030	35242030	NM_001077653.2:c.*12A>T		NC_000007.13:g.35242030T>A	-	C1969657 611363 Atrial septal defect 4
NM_001077653.2(TBX20):c.1189C>T (p.Leu397=)	57057	TBX20	Uncertain significance	483353003	RCV000119296;	N	MedGen:C1969657,OMIM:611363	7	35242197	35242197	NM_001077653.2:c.1189C>T	NP_001071121.1:p.Leu397=	NC_000007.13:g.35242197G>A	-	C1969657 611363 Atrial septal defect 4
NM_001077653.2(TBX20):c.1184T>G (p.Met395Arg)	57057	TBX20	Uncertain significance	483352999	RCV000119295;	N	MedGen:C1969657,OMIM:611363	7	35242202	35242202	NM_001077653.2:c.1184T>G	NP_001071121.1:p.Met395Arg	NC_000007.13:g.35242202A>C	-	C1969657 611363 Atrial septal defect 4
NM_001077653.2(TBX20):c.1108A>C (p.Thr370Pro)	57057	TBX20	Uncertain significance	483352998	RCV000119294;	N	MedGen:C1969657,OMIM:611363	7	35242278	35242278	NM_001077653.2:c.1108A>C	NP_001071121.1:p.Thr370Pro	NC_000007.13:g.35242278T>G	-	C1969657 611363 Atrial septal defect 4
NM_001077653.2(TBX20):c.1003+129T>C	57057	TBX20	Uncertain significance	483353008	RCV000119292;	N	MedGen:C1969657,OMIM:611363	7	35243953	35243953	NM_001077653.2:c.1003+129T>C		NC_000007.13:g.35243953A>G	-	C1969657 611363 Atrial septal defect 4
NM_001077653.2(TBX20):c.1003+99C>T	57057	TBX20	Uncertain significance	483353007	RCV000119293;	N	MedGen:C1969657,OMIM:611363	7	35243983	35243983	NM_001077653.2:c.1003+99C>T		NC_000007.13:g.35243983G>A	-	C1969657 611363 Atrial septal defect 4
NM_001077653.2(TBX20):c.925T>G (p.Tyr309Asp)	57057	TBX20	Uncertain significance	111862418	RCV000119303;	N	MedGen:C1969657,OMIM:611363	7	35244160	35244160	NM_001077653.2:c.925T>G	NP_001071121.1:p.Tyr309Asp	NC_000007.13:g.35244160A>C	-	C1969657 611363 Atrial septal defect 4
NM_001077653.2(TBX20):c.657A>C (p.Ile219=)	57057	TBX20	Uncertain significance	483353002	RCV000119302;	N	MedGen:C1969657,OMIM:611363	7	35280647	35280647	NM_001077653.2:c.657A>C	NP_001071121.1:p.Ile219=	NC_000007.13:g.35280647T>G	-	C1969657 611363 Atrial septal defect 4
NM_001077653.2(TBX20):c.655-18C>T	57057	TBX20	Uncertain significance	483353009	RCV000119301;	N	MedGen:C1969657,OMIM:611363	7	35280667	35280667	NM_001077653.2:c.655-18C>T		NC_000007.13:g.35280667G>A	-	C1969657 611363 Atrial septal defect 4
NM_001077653.2(TBX20):c.583C>T (p.Gln195Ter)	57057	TBX20	Pathogenic	137852955	RCV000004896;	N	MedGen:C1969657,OMIM:611363	7	35284632	35284632	NM_001077653.2:c.583C>T	NP_001071121.1:p.Gln195Ter	NC_000007.13:g.35284632G>A	OMIM Allelic Variant:606061.0002	C1969657 611363 Atrial septal defect 4
NM_001077653.2(TBX20):c.546-1223dup	57057	TBX20	Uncertain significance	483353006	RCV000119300;	N	MedGen:C1969657,OMIM:611363	7	35285892	35285892	NM_001077653.2:c.546-1223dup		NC_000007.13:g.35285892dupA	-	C1969657 611363 Atrial septal defect 4
NM_001077653.2(TBX20):c.456C>G (p.Ile152Met)	57057	TBX20	Pathogenic	137852954	RCV000004895;	N	MedGen:C1969657,OMIM:611363	7	35288378	35288378	NM_001077653.2:c.456C>G	NP_001071121.1:p.Ile152Met	NC_000007.13:g.35288378G>C	OMIM Allelic Variant:606061.0001	C1969657 611363 Atrial septal defect 4
NM_001077653.2(TBX20):c.363C>G (p.Ile121Met)	57057	TBX20	Pathogenic	267607106	RCV000004897;	N	MedGen:C1969657,OMIM:611363	7	35289580	35289580	NM_001077653.2:c.363C>G	NP_001071121.1:p.Ile121Met	NC_000007.13:g.35289580G>C	OMIM Allelic Variant:606061.0003	C1969657 611363 Atrial septal defect 4
NM_001077653.2(TBX20):c.-517C>T	57057	TBX20	Uncertain significance	483353001	RCV000119291;	N	MedGen:C1969657,OMIM:611363	7	35293748	35293748	NM_001077653.2:c.-517C>T		NC_000007.13:g.35293748G>A	-	C1969657 611363 Atrial septal defect 4