Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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

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

Disease Browser
Parent Node: Heart Block (D006327)
Parent Node: Heart Septal Defects, Atrial (D006344)
..Starting node ..Atrial Septal Defect with Atrioventricular Conduction Defects (C566238)
Child Nodes:
........ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS (OMIM:108900)
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:

1037

Name:

Atrial Septal Defect with Atrioventricular Conduction Defects

Definition:

Alternative IDs:

ParentIDs:

MESH:D006327|MESH:D006344

TreeNumbers:

C14.240.400.560.375/C566238 |C14.280.067.558/C566238 |C14.280.400.560.375/C566238 |C16.131.240.400.560.375/C566238 |C23.550.073.425/C566238

Synonyms:

ASD with Atrioventricular Conduction Defects

Slim Mappings:

Cardiovascular disease|Congenital abnormality|Pathology (process)

Reference:

MedGen: C566238
MeSH: C566238
OMIM: 108900;

Genes: NKX2-5;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0005110	Atrial fibrillation
3	HP:0001712	Left ventricular hypertrophy	HP:0040283
4	HP:0012248	Prolonged PR interval
5	HP:0004935	Pulmonary artery atresia	HP:0040283
6	HP:0001684	Secundum atrial septal defect
7	HP:0001682	Subvalvular aortic stenosis	HP:0040283
8	HP:0001636	Tetralogy of Fallot	HP:0040283
9	HP:0001629	Ventricular septal defect	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_004387.3(NKX2-5):c.896A>G (p.Asp299Gly)	1482	NKX2-5	Pathogenic	137852683	RCV000009579; RCV000009580;	N	MedGen:C1833590; MedGen:C1862388,OMIM:108900	5	172659651	172659651	NM_004387.3:c.896A>G	NP_004378.1:p.Asp299Gly	NC_000005.9:g.172659651T>C	OMIM Allelic Variant:600584.0011	C1862388 108900 Atrial septal defect 7 with or without atrioventricular conduction defects; C1833590 Atrioventricular septal defect, somatic
NM_004387.3(NKX2-5):c.768T>A (p.Tyr256Ter)	1482	NKX2-5	Pathogenic	104893907	RCV000009583;	N	MedGen:C1862388,OMIM:108900	5	172659779	172659779	NM_004387.3:c.768T>A	NP_004378.1:p.Tyr256Ter	NC_000005.9:g.172659779A>T	OMIM Allelic Variant:600584.0014	C1862388 108900 Atrial septal defect 7 with or without atrioventricular conduction defects
NM_004387.3(NKX2-5):c.721_728delTACGGCGT (p.Tyr241Glyfs)	1482	NKX2-5	Pathogenic	587782930	RCV000144178;	N	MedGen:C1862388,OMIM:108900	5	172659819	172659826	NM_004387.3:c.721_728delTACGGCGT	NP_004378.1:p.Tyr241Glyfs	NC_000005.9:g.172659819_172659826delACGCCGTA	-	C1862388 108900 Atrial septal defect 7 with or without atrioventricular conduction defects
NM_004387.3(NKX2-5):c.618delG (p.Leu207Cysfs)	1482	NKX2-5	Pathogenic	587782929	RCV000144177;	N	MedGen:C1862388,OMIM:108900	5	172659929	172659929	NM_004387.3:c.618delG	NP_004378.1:p.Leu207Cysfs	NC_000005.9:g.172659929delC	-	C1862388 108900 Atrial septal defect 7 with or without atrioventricular conduction defects
NM_004387.3(NKX2-5):c.592C>T (p.Gln198Ter)	1482	NKX2-5	Pathogenic	104893903	RCV000009570;	N	MedGen:C1862388,OMIM:108900	5	172659955	172659955	NM_004387.3:c.592C>T	NP_004378.1:p.Gln198Ter	NC_000005.9:g.172659955G>A	OMIM Allelic Variant:600584.0003	C1862388 108900 Atrial septal defect 7 with or without atrioventricular conduction defects
NM_004387.3(NKX2-5):c.568C>T (p.Arg190Cys)	1482	NKX2-5	Pathogenic	104893906	RCV000009582;	N	MedGen:C1862388,OMIM:108900	5	172659979	172659979	NM_004387.3:c.568C>T	NP_004378.1:p.Arg190Cys	NC_000005.9:g.172659979G>A	OMIM Allelic Variant:600584.0013	C1862388 108900 Atrial septal defect 7 with or without atrioventricular conduction defects
NM_004387.3(NKX2-5):c.543G>C (p.Gln181His)	1482	NKX2-5	Likely pathogenic	72554028	RCV000030338;	N	MedGen:C1862388,OMIM:108900	5	172660004	172660004	NM_004387.3:c.543G>C	NP_004378.1:p.Gln181His	NC_000005.9:g.172660004C>G,NC_000005.9:g.172660004C>T	-	C1862388 108900 Atrial septal defect 7 with or without atrioventricular conduction defects
NM_004387.3(NKX2-5):c.533C>T (p.Thr178Met)	1482	NKX2-5	Pathogenic	104893900	RCV000009568;	N	MedGen:C1862388,OMIM:108900	5	172660014	172660014	NM_004387.3:c.533C>T	NP_004378.1:p.Thr178Met	NC_000005.9:g.172660014G>A	OMIM Allelic Variant:600584.0001	C1862388 108900 Atrial septal defect 7 with or without atrioventricular conduction defects
NM_004387.3(NKX2-5):c.508C>T (p.Gln170Ter)	1482	NKX2-5	Pathogenic	104893901	RCV000009569;	N	MedGen:C1862388,OMIM:108900	5	172660039	172660039	NM_004387.3:c.508C>T	NP_004378.1:p.Gln170Ter	NC_000005.9:g.172660039G>A	OMIM Allelic Variant:600584.0002	C1862388 108900 Atrial septal defect 7 with or without atrioventricular conduction defects
NM_004387.3(NKX2-5):c.461A>G (p.Glu154Gly)	1482	NKX2-5	Pathogenic	587782928	RCV000144176;	N	MedGen:C1862388,OMIM:108900	5	172660086	172660086	NM_004387.3:c.461A>G	NP_004378.1:p.Glu154Gly	NC_000005.9:g.172660086T>C	-	C1862388 108900 Atrial septal defect 7 with or without atrioventricular conduction defects
NM_004387.3(NKX2-5):c.380C>A (p.Ala127Glu)	1482	NKX2-5	Pathogenic	387906774	RCV000023021;	N	MedGen:C1862388,OMIM:108900	5	172660167	172660167	NM_004387.3:c.380C>A	NP_004378.1:p.Ala127Glu	NC_000005.9:g.172660167G>T	OMIM Allelic Variant:600584.0019	C1862388 108900 Atrial septal defect 7 with or without atrioventricular conduction defects
NM_004387.3(NKX2-5):c.262delG (p.Ala88Profs)	1482	NKX2-5	Pathogenic	606231360	RCV000009581;	N	MedGen:C1862388,OMIM:108900	5	172661825	172661825	NM_004387.3:c.262delG	NP_004378.1:p.Ala88Profs	NC_000005.9:g.172661825delC	OMIM Allelic Variant:600584.0012	C1862388 108900 Atrial septal defect 7 with or without atrioventricular conduction defects
NM_004387.3(NKX2-5):c.237G>A (p.Pro79=)	1482	NKX2-5	Likely benign	72554029	RCV000030335;	N	MedGen:C1862388,OMIM:108900	5	172661850	172661850	NM_004387.3:c.237G>A	NP_004378.1:p.Pro79=	NC_000005.9:g.172661850C>G,NC_000005.9:g.172661850C>T	-	C1862388 108900 Atrial septal defect 7 with or without atrioventricular conduction defects
NM_004387.3(NKX2-5):c.237G>C (p.Pro79=)	1482	NKX2-5	Likely benign	72554029	RCV000030336;	N	MedGen:C1862388,OMIM:108900	5	172661850	172661850	NM_004387.3:c.237G>C	NP_004378.1:p.Pro79=	NC_000005.9:g.172661850C>G,NC_000005.9:g.172661850C>T	-	C1862388 108900 Atrial septal defect 7 with or without atrioventricular conduction defects
NM_004387.3(NKX2-5):c.228_229delGC (p.Pro77Phefs)	1482	NKX2-5	Pathogenic	606231359	RCV000009578;	N	MedGen:C1862388,OMIM:108900	5	172661858	172661859	NM_004387.3:c.228_229delGC	NP_004378.1:p.Pro77Phefs	NC_000005.9:g.172661858_172661859delGC	OMIM Allelic Variant:600584.0010	C1862388 108900 Atrial septal defect 7 with or without atrioventricular conduction defects
NM_004387.3(NKX2-5):c.215_221delAGCTGGG (p.Glu72Alafs)	1482	NKX2-5	Pathogenic	606231358	RCV000009577;	N	MedGen:C1862388,OMIM:108900	5	172661866	172661872	NM_004387.3:c.215_221delAGCTGGG	NP_004378.1:p.Glu72Alafs	NC_000005.9:g.172661866_172661872delCCCAGCT	OMIM Allelic Variant:600584.0009	C1862388 108900 Atrial septal defect 7 with or without atrioventricular conduction defects
NM_004387.3(NKX2-5):c.73C>T (p.Arg25Cys)	1482	NKX2-5	Benign;Likely benign;Pathogenic	28936670	RCV000009572; RCV000206285; RCV000009573; RCV000023019; RCV000023017; RCV000023018; RCV000030339; RCV000171008; RCV000037968; RCV000146755;	N	Human Phenotype Ontology:HP:0001660,MedGen:CN001511; MedGen:C0039685,OMIM:187500,ORPHA:3303,SNOMED CT:86299006; MedGen:C0152021,SNOMED CT:13213009; MedGen:C0152419; MedGen:C1862388,OMIM:108900; MedGen:C2673630,OMIM:225250; MedGen:C3280795,OMIM:614435; MedGen:C	5	172662014	172662014	NM_004387.3:c.73C>T	NP_004378.1:p.Arg25Cys	NC_000005.9:g.172662014G>A	OMIM Allelic Variant:600584.0004	C1862388 108900 Atrial septal defect 7 with or without atrioventricular conduction defects; C0152021 Congenital heart disease; C3280795 614435 Hypoplastic left heart syndrome 2; C2673630 225250 Hypothyroidism, congenital, nongoitrous, 5; C0152419 Inter
NM_004387.3(NKX2-5):c.44A>T (p.Lys15Ile)	1482	NKX2-5	Pathogenic	387906773	RCV000023020;	N	MedGen:C1862388,OMIM:108900	5	172662043	172662043	NM_004387.3:c.44A>T	NP_004378.1:p.Lys15Ile	NC_000005.9:g.172662043T>A	OMIM Allelic Variant:600584.0018	C1862388 108900 Atrial septal defect 7 with or without atrioventricular conduction defects