MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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

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
Parent Node: Heart Defects, Congenital (D006330)
..Starting node ..Hypoplastic Left Heart Syndrome (D018636)
Child Nodes:
Sister Nodes:
..22q11 Deletion Syndrome (D058165) 5
..Aarskog Syndrome (C535331) 1
..Al Gazali Aziz Salem syndrome (C535613)
..Alagille Syndrome (D016738)
..Amastia, Bilateral, With Ureteral Triplication And Dysmorphism (C566295)
..Aortic Coarctation (D001017) 3
..Aortic Valve Disease 1 (C563178) 1
..Aplasia Cutis Congenita, Congenital Heart Defect, And Frontonasal Cysts (C566997)
..Arrhythmogenic Right Ventricular Dysplasia (D019571) 13
..Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly (C566529)
..Baetz-Greenwalt syndrome (C537795)
..Barth Syndrome (D056889) 2 L: 00399;
..BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
..Beemer Ertbruggen syndrome (C537668)
..Bixler Christian Gorlin syndrome (C537632)
..Blepharophimosis syndrome Ohdo type (C536232)
..Bonneau Syndrome (C564875)
..Burn-Mckeown syndrome (C537411)
..Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies (C563414)
..Cardiac Valvular Defect, Developmental (C565882)
..Cardiac valvular dysplasia, X-linked (C535576)
..Cardioauditory syndrome of Sanchez Cascos (C535577)
..Cardiocranial syndrome (C535578)
..Cardiofaciocutaneous syndrome (C535579)
..Chromosome 1q21.1 Duplication Syndrome (C567290)
..Chromosome 6pter-P24 Deletion Syndrome (C567239)
..Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly (C563936)
..CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA (OMIM:617364)
..CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
..CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2 (OMIM:614980)
..CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 (OMIM:615779)
..Congenital Heart Defects, X-Linked (C567444)
..Conotruncal cardiac defects (C535464) 1
..Cor Triatriatum (D003310)
..Coronary Vessel Anomalies (D003330) 3
..Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
..Cranioacrofacial Syndrome (C565147)
..Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation (C564271)
..Craniofaciofrontodigital Syndrome (C567298)
..Crisscross Heart (D003420)
..Deafness, Congenital Heart Defects, and Posterior Embryotoxon (C566604)
..Dextrocardia (D003914) 10
..Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature (C565092)
..Ductus Arteriosus, Patent (D004374) 6
..Ebstein Anomaly (D004437)
..Ectopia Cordis (D054083)
..Ectrodactyly cardiopathy dysmorphism (C536187)
..Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia (C563344)
..Eisenmenger Complex (D004541)
..Ellis Yale Winter syndrome (C536205)
..Emanuel syndrome (C535733)
..Faciocardiomelic Dysplasia, Lethal (C565578)
..Faciocardiomelic Syndrome (C567176)
..Faciocardiorenal syndrome (C536388)
..Familial anomalous origin of right pulmonary artery (C535681)
..Fragile Site 16p12 (C565001)
..Frontoocular Syndrome (C565340)
..Gay Feinmesser Cohen syndrome (C537676)
..Genito palato cardiac syndrome (C537683)
..Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia (C565755)
..Heart defects limb shortening (C535850)
..HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES (OMIM:600001)
..Heart Septal Defects (D006343) 47
..Heart-hand syndrome, Slovenian type (C535852)
..Heart-hand syndrome, Spanish type (C535853)
..Hecht Scott syndrome (C535856)
..Heterotaxy Syndrome (D059446) 7
..Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly (C565817)
..Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction (C563939)
..Hittner Hirsch Kreh syndrome (C538323)
..Ho Kaufman Mcalister syndrome (C538325)
..Holt-Oram syndrome (C535326)
..Holzgreve Wagner Rehder syndrome (C535327)
..Hydrolethalus syndrome (C536079)
..Hypoplastic Left Heart Syndrome (D018636)
..Isolated Noncompaction of the Ventricular Myocardium (D056830) 5
..Kasznica Carlson Coppedge syndrome (C537011)
..Kleefstra Syndrome (C563043)
..LEOPARD Syndrome (D044542) 2
..Levocardia (D007979)
..Long QT Syndrome (D008133) 20
..Lowry Maclean syndrome (C537037)
..Malpuech facial clefting syndrome (C535704)
..Marcus Gunn phenomenon (C535908)
..Marfan Syndrome (D008382) 9
..McDonough syndrome (C538158)
..McKusick Kaufman syndrome (C538159)
..McPherson Clemens syndrome (C538160)
..Mehta Lewis Patton syndrome (C536147)
..MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS (OMIM:616789)
..Mexican Cardiomelic Dysplasia (C563087)
..Microcephaly seizures mental retardation heart disorders (C537544)
..Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs (C563341)
..MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
..NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
..Noncompaction of Left Ventricular Myocardium with Congenital Heart Defects (C564690)
..Noonan Syndrome (D009634) 12
..Orstavik Lindemann Solberg syndrome (C537137)
..Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease (C564011)
..Pilotto syndrome (C537400)
..Powell Chandra Saal syndrome (C538357)
..Pseudodiastrophic dysplasia (C535826)
..Pulmonary Atresia with Intact Ventricular Septum (C562832)
..Right ventricle hypoplasia (C535682)
..Rommen Mueller Sybert syndrome (C535871)
..Saal Bulas syndrome (C537193)
..Sacral meningocele conotruncal heart defects (C537223)
..Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities (C564262)
..Short QT Syndrome 1 (C566506)
..Short QT Syndrome 2 (C566505)
..Short QT Syndrome 3 (C566504)
..Simpson-Golabi-Behmel syndrome (C537340)
..Sonoda syndrome (C536680)
..Steinfeld Syndrome (C566655)
..Stratton-Parker Syndrome (C566105)
..Subaortic Stenosis, Membranous (C564793)
..T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS (OMIM:614868)
..Tabatznik syndrome (C536784)
..Tamari Goodman syndrome (C536896)
..TARP syndrome (C536942)
..Ter Haar syndrome (C537274)
..TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE (OMIM:615542)
..Tetralogy of Fallot (D013771) 4
..Thomas syndrome (C536514)
..Transposition of Great Vessels (D014188) 5
..Tricuspid Atresia (D018785) 1
..Trilogy of Fallot (D014286)
..Trisomy 13 Syndrome (D000073839)
..Trisomy 18 Syndrome (D000073842)
..Turner Syndrome (D014424) 2
..Uhl anomaly (C536932)
..VACTERL association (C536495)
..VATER association (C536534)
..Vater Association With Hydrocephalus (C564752)
..Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency (C564244)
..Ventricular extrasystoles perodactyly Robin sequence (C536537)
..Verloove-Vanhorick Brubakk syndrome (C536541)
..Wolff-Parkinson-White Syndrome (D014927)
..Young Simpson syndrome (C536717)
..Zunich neuroectodermal syndrome (C536729)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

6119

Name:

Hypoplastic Left Heart Syndrome

Definition:

A condition caused by underdevelopment of the whole left half of the heart. It is characterized by hypoplasia of the left cardiac chambers (HEART ATRIUM; HEART VENTRICLE), the AORTA, the AORTIC VALVE, and the MITRAL VALVE. Severe symptoms appear in early infancy when DUCTUS ARTERIOSUS closes.

Alternative IDs:

DO:DOID:9955|OMIM:241550|OMIM:614435

ParentIDs:

MESH:D006330

TreeNumbers:

C14.240.400.625 |C14.280.400.625 |C16.131.240.400.625

Synonyms:

Slim Mappings:

Cardiovascular disease|Congenital abnormality

Reference:

MedGen: D018636
MeSH: D018636
OMIM: 241550;
MSeqDR :
Genes: GJA1; NKX2-5;

Phenotypes

HP:0004383

Hypoplastic left heart

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
GRCh37/hg19 15q11.2(chr15:22770421-23282799)	-1	CYFIP1;NIPA1;NIPA2;TUBGCP5	Uncertain significance	-1	RCV002280614;	N	MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248	15	22770421	23282799	-1	-
NM_000165.5(GJA1):c.-197T>G	2697	GJA1	Uncertain significance	1387189062	RCV001153004\|RCV001153006\|RCV001153005;	N	MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710\|MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404	6	121756798	121756798	6:g.121756798T>G	-
NM_000165.5(GJA1):c.-188G>T	2697	GJA1	Uncertain significance	886061008	RCV000296946\|RCV000341333\|RCV000398444;	N	MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710	6	121756807	121756807	6:g.121756807G>T	ClinGen:CA10625699	CN031062 241550 Hypoplastic left heart syndrome 1;
NM_000165.5(GJA1):c.-161G>T	2697	GJA1	Uncertain significance	764033415	RCV000313162\|RCV000356469\|RCV000400437;	N	MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710\|MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248	6	121756834	121756834	6:g.121756834G>T	ClinGen:CA10622866	CN031062 241550 Hypoplastic left heart syndrome 1;
NM_000165.5(GJA1):c.-135C>T	2697	GJA1	Conflicting interpretations of pathogenicity	539558089	RCV000277770\|RCV000333087\|RCV000367853;	N	MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710	6	121756860	121756860	6:g.121756860C>T	ClinGen:CA10621311	CN031062 241550 Hypoplastic left heart syndrome 1;
NM_000165.5(GJA1):c.-87C>T	2697	GJA1	Uncertain significance	1263521795	RCV001155652\|RCV001157319\|RCV001157320;	N	MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710\|MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404	6	121756908	121756908	6:g.121756908C>T	-
NM_000165.5(GJA1):c.-67C>G	2697	GJA1	Conflicting interpretations of pathogenicity	111581053	RCV000269687\|RCV000329447\|RCV000364357\|RCV002274018;	N	MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710\|MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MedGen:C3661900	6	121756928	121756928	6:g.121756928C>G	ClinGen:CA10621312	CN031062 241550 Hypoplastic left heart syndrome 1;
NM_000165.5(GJA1):c.-16-12T>A	2697	GJA1	Conflicting interpretations of pathogenicity	56199702	RCV000284492\|RCV000320948\|RCV000383666\|RCV000436781;	N	MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710\|MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404\|MedGen:C3661900	6	121767966	121767966	NC_000006.11:g.121767966T>A	ClinGen:CA3981646	CN031062 241550 Hypoplastic left heart syndrome 1;
NM_000165.5(GJA1):c.129A>G (p.Ser43=)	2697	GJA1	Uncertain significance	749135596	RCV001151879\|RCV001151877\|RCV001151878;	N	MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710\|MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404	6	121768122	121768122	6:g.121768122A>G	-
NM_000165.5(GJA1):c.270C>G (p.Leu90=)	2697	GJA1	Uncertain significance	886061009	RCV000285882\|RCV000336228\|RCV000380167;	N	MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710\|MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404	6	121768263	121768263	NC_000006.11:g.121768263C>G	ClinGen:CA10625701	CN031062 241550 Hypoplastic left heart syndrome 1;
NM_000165.5(GJA1):c.456G>A (p.Leu152=)	2697	GJA1	Conflicting interpretations of pathogenicity	72548741	RCV000282479\|RCV000349696\|RCV000372243\|RCV000842194\|RCV001429544;	N	MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404\|MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710\|MedGen:C3661900\|MONDO:MONDO:0009768,MedGen:C2749477,OMIM:257850,Or	6	121768449	121768449	NC_000006.11:g.121768449G>A	ClinGen:CA3981689	CN031062 241550 Hypoplastic left heart syndrome 1;
NM_000165.5(GJA1):c.483C>G (p.Phe161Leu)	2697	GJA1	Uncertain significance	750243405	RCV001153116\|RCV001153117\|RCV001153118;	N	MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710\|MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404\|MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248	6	121768476	121768476	6:g.121768476C>G	-
NM_000165.5(GJA1):c.612G>A (p.Thr204=)	2697	GJA1	Benign/Likely benign	766082259	RCV001153121\|RCV001153120\|RCV001153119\|RCV002064473;	N	MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710\|MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404\|MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MONDO:MONDO:0009768,MedGen:C2749477,OMIM:257850, Orphanet:2710	6	121768605	121768605	6:g.121768605G>A	-
NM_000165.5(GJA1):c.706G>A (p.Val236Ile)	2697	GJA1	Conflicting interpretations of pathogenicity	148384161	RCV001153122\|RCV001155725\|RCV001155726\|RCV001454547\|RCV001570333;	N	MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710\|MONDO:MONDO:0009768,MedGen:C2749477,OMIM:257850, Orphanet:2710\|MedG	6	121768699	121768699	6:g.121768699G>A	-
NM_000165.5(GJA1):c.712G>T (p.Asp238Tyr)	2697	GJA1	Uncertain significance	143026885	RCV001155728\|RCV001155727\|RCV001155729;	N	MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710\|MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248	6	121768705	121768705	6:g.121768705G>T	-
NM_000165.5(GJA1):c.717G>A (p.Arg239=)	2697	GJA1	Benign/Likely benign	57946868	RCV000146001\|RCV000314566\|RCV000350764\|RCV000402105\|RCV000465870;	N	MedGen:CN169374\|MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710\|MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MONDO:MONDO:0009768,MedGen:C2749477,OMIM:257850,Or	6	121768710	121768710	6:g.121768710G>A	ClinGen:CA172203	CN031062 241550 Hypoplastic left heart syndrome 1;
NM_000165.5(GJA1):c.717G>C (p.Arg239=)	2697	GJA1	Conflicting interpretations of pathogenicity	57946868	RCV001157428\|RCV001157429\|RCV001157430\|RCV001441182\|RCV001732055;	N	MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710\|MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MONDO:MONDO:0009768,MedGen:C2749477,OMIM:257850, Orphanet:2710\|MedG	6	121768710	121768710	6:g.121768710G>C	-
NM_000165.5(GJA1):c.764G>A (p.Ser255Asn)	2697	GJA1	Conflicting interpretations of pathogenicity	765459582	RCV001157432\|RCV001157431\|RCV001157433\|RCV002032456;	N	MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710\|MONDO:MONDO:0009768,MedGen:C2749477,OMIM:257850, Orphanet:2710	6	121768757	121768757	6:g.121768757G>A	-
NM_000165.5(GJA1):c.814T>C (p.Ser272Pro)	2697	GJA1	Conflicting interpretations of pathogenicity	376074787	RCV000703913\|RCV001151960\|RCV001151961\|RCV001157434;	N	MONDO:MONDO:0009768,MedGen:C2749477,OMIM:257850, Orphanet:2710\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710\|MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404\|MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248	6	121768807	121768807	6:g.121768807T>C	-	C2749477 257850 Oculodentodigital dysplasia, autosomal recessive;
NM_000165.5(GJA1):c.837G>A (p.Ser279=)	2697	GJA1	Benign/Likely benign	67407537	RCV000271108\|RCV000306229\|RCV000365711\|RCV000862762\|RCV001548051;	N	MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710\|MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404\|MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MONDO:MONDO:0009768,MedGen:C2749477,OMIM:257850, Orphanet:2710\|MedG	6	121768830	121768830	NC_000006.11:g.121768830G>A	ClinGen:CA3981766	CN031062 241550 Hypoplastic left heart syndrome 1;
NM_000165.5(GJA1):c.886T>C (p.Ser296Pro)	2697	GJA1	Uncertain significance	1773914179	RCV001151963\|RCV001151964\|RCV001151962;	N	MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710\|MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404	6	121768879	121768879	6:g.121768879T>C	-
NM_000165.5(GJA1):c.893G>A (p.Cys298Tyr)	2697	GJA1	Uncertain significance	1773914309	RCV001153225\|RCV001153226\|RCV001153227\|RCV003153932;	N	MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710\|MedGen:CN517202	6	121768886	121768886	6:g.121768886G>A	-
NM_000165.5(GJA1):c.1015G>A (p.Asp339Asn)	2697	GJA1	Uncertain significance	772121642	RCV000267802\|RCV000303164\|RCV000357984\|RCV001861268;	N	MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710\|MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MONDO:MONDO:0009768,MedGen:C2749477,OMIM:257850, Orphanet:2710	6	121769008	121769008	NC_000006.11:g.121769008G>A	ClinGen:CA3981809	CN031062 241550 Hypoplastic left heart syndrome 1;
NM_000165.5(GJA1):c.1085G>A (p.Arg362Gln)	2697	GJA1	Conflicting interpretations of pathogenicity	2227885	RCV000018511\|RCV000018512\|RCV000444307\|RCV001089368;	N	MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MedGen:C0344783\|MedGen:C3661900\|MONDO:MONDO:0009768,MedGen:C2749477,OMIM:257850, Orphanet:2710	6	121769078	121769078	6:g.121769078G>A	ClinGen:CA215135,UniProtKB:P17302#VAR_032924,OMIM:121014.0011	C0344783 600309 Atrioventricular septal defect and common atrioventricular junction;
NM_000165.5(GJA1):c.1127G>A (p.Arg376Gln)	2697	GJA1	Conflicting interpretations of pathogenicity	104893965	RCV000018514\|RCV000018513\|RCV000860936\|RCV001155824\|RCV001153228\|RCV001557593;	N	MedGen:C0344783\|MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MONDO:MONDO:0009768,MedGen:C2749477,OMIM:257850, Orphanet:2710\|MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200,Or	6	121769120	121769120	6:g.121769120G>A	ClinGen:CA215136,UniProtKB:P17302#VAR_032925,OMIM:121014.0012	C0344783 600309 Atrioventricular septal defect and common atrioventricular junction;
NM_000165.5(GJA1):c.1128G>A (p.Arg376=)	2697	GJA1	Conflicting interpretations of pathogenicity	145215218	RCV000259758\|RCV000322881\|RCV000373116\|RCV000827825\|RCV001088161;	N	MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710\|MedGen:C3661900\|MONDO:MONDO:0009768,MedGen:C2749477,OMIM:257850,Or	6	121769121	121769121	NC_000006.11:g.121769121G>A	ClinGen:CA3981829	CN031062 241550 Hypoplastic left heart syndrome 1;
NM_000165.5(GJA1):c.*3dup	2697	GJA1	Benign	397824185	RCV000248771\|RCV000293935\|RCV000374195\|RCV000319506\|RCV001521083\|RCV001529262;	N	MedGen:CN169374\|MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710\|Human Phenotype Ontology:HP:0001159,Human Phenotype Ontology:HP:0001206,Human Phenotype Ontology:HP:0001236,MONDO	6	121769144	121769145	6:g.121769144_121769145insA	ClinGen:CA3981836	CN031062 241550 Hypoplastic left heart syndrome 1;
NM_000165.5(GJA1):c.*47A>G	2697	GJA1	Uncertain significance	886061010	RCV000295219\|RCV000348847\|RCV000389502;	N	MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404\|MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710	6	121769189	121769189	NC_000006.11:g.121769189A>G	ClinGen:CA10621313	CN031062 241550 Hypoplastic left heart syndrome 1;
NM_000165.5(GJA1):c.*119T>C	2697	GJA1	Conflicting interpretations of pathogenicity	72548742	RCV000308917\|RCV000345504\|RCV000394994;	N	MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710	6	121769261	121769261	NC_000006.11:g.121769261T>C	ClinGen:CA10625774	CN031062 241550 Hypoplastic left heart syndrome 1;
NM_000165.5(GJA1):c.*163G>A	2697	GJA1	Uncertain significance	886061011	RCV000302991\|RCV000347372\|RCV000401222;	N	MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710	6	121769305	121769305	NC_000006.11:g.121769305G>A	ClinGen:CA10622869	CN031062 241550 Hypoplastic left heart syndrome 1;
NM_000165.5(GJA1):c.*173G>A	2697	GJA1	Benign	72548744	RCV000267700\|RCV000296888\|RCV000359955\|RCV001672671;	N	MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710\|MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404\|MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MedGen:C3661900	6	121769315	121769315	NC_000006.11:g.121769315G>A	ClinGen:CA10625785	CN031062 241550 Hypoplastic left heart syndrome 1;
NM_000165.5(GJA1):c.*191G>A	2697	GJA1	Uncertain significance	886061012	RCV000261624\|RCV000319191\|RCV000354070;	N	MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710	6	121769333	121769333	NC_000006.11:g.121769333G>A	ClinGen:CA10621317	CN031062 241550 Hypoplastic left heart syndrome 1;
NM_000165.5(GJA1):c.*212A>T	2697	GJA1	Uncertain significance	1408036306	RCV001152063\|RCV001152064\|RCV001152065;	N	MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710\|MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404	6	121769354	121769354	6:g.121769354A>T	-
NM_000165.5(GJA1):c.*214G>A	2697	GJA1	Uncertain significance	549064986	RCV000276657\|RCV000333992\|RCV000387449;	N	MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404\|MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710	6	121769356	121769356	NC_000006.11:g.121769356G>A	ClinGen:CA10625703	CN031062 241550 Hypoplastic left heart syndrome 1;
NM_000165.5(GJA1):c.*243A>G	2697	GJA1	Conflicting interpretations of pathogenicity	139128953	RCV000289708\|RCV000328392\|RCV000381548\|RCV001591021;	N	MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710\|MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404\|MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MedGen:C3661900	6	121769385	121769385	NC_000006.11:g.121769385A>G	ClinGen:CA10621318	CN031062 241550 Hypoplastic left heart syndrome 1;
NM_000165.5(GJA1):c.*285A>T	2697	GJA1	Uncertain significance	72548748	RCV000283851\|RCV000340720\|RCV000385161;	N	MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404\|MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710	6	121769427	121769427	NC_000006.11:g.121769427A>T	ClinGen:CA10621323	CN031062 241550 Hypoplastic left heart syndrome 1;
NM_000165.5(GJA1):c.*301C>T	2697	GJA1	Uncertain significance	72548749	RCV001153329\|RCV001155936\|RCV001155937;	N	MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710	6	121769443	121769443	6:g.121769443C>T	-
NM_000165.5(GJA1):c.*444A>G	2697	GJA1	Uncertain significance	919415571	RCV001155939\|RCV001155940\|RCV001155938;	N	MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710\|MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404	6	121769586	121769586	6:g.121769586A>G	-
NM_000165.5(GJA1):c.*498G>A	2697	GJA1	Conflicting interpretations of pathogenicity	575593821	RCV001155941\|RCV001155942\|RCV001155943;	N	MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710\|MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404	6	121769640	121769640	6:g.121769640G>A	-
NM_000165.5(GJA1):c.*521G>C	2697	GJA1	Uncertain significance	1270925038	RCV001157641\|RCV001157643\|RCV001157642;	N	MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710\|MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248	6	121769663	121769663	6:g.121769663G>C	-
NM_000165.5(GJA1):c.*529C>G	2697	GJA1	Uncertain significance	886061013	RCV000286949\|RCV000334986\|RCV000393342;	N	MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710	6	121769671	121769671	NC_000006.11:g.121769671C>G	ClinGen:CA10625801	CN031062 241550 Hypoplastic left heart syndrome 1;
NM_000165.5(GJA1):c.*538G>A	2697	GJA1	Uncertain significance	886061014	RCV000300135\|RCV000357324\|RCV000398964;	N	MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404\|MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710	6	121769680	121769680	NC_000006.11:g.121769680G>A	ClinGen:CA10625802	CN031062 241550 Hypoplastic left heart syndrome 1;
NM_000165.5(GJA1):c.*635C>T	2697	GJA1	Uncertain significance	886061015	RCV000312297\|RCV000369374\|RCV000399823;	N	MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710\|MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404	6	121769777	121769777	NC_000006.11:g.121769777C>T	ClinGen:CA10625803	CN031062 241550 Hypoplastic left heart syndrome 1;
NM_000165.5(GJA1):c.*694T>C	2697	GJA1	Uncertain significance	886061016	RCV000277136\|RCV000325141\|RCV000363305;	N	MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404\|MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710	6	121769836	121769836	NC_000006.11:g.121769836T>C	ClinGen:CA10625706	CN031062 241550 Hypoplastic left heart syndrome 1;
NM_000165.5(GJA1):c.*750G>A	2697	GJA1	Uncertain significance	1773934302	RCV001152177\|RCV001153452\|RCV001153453;	N	MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710	6	121769892	121769892	6:g.121769892G>A	-
NM_000165.5(GJA1):c.772_773dup	2697	GJA1	Likely benign	397698276	RCV000284315\|RCV000322948\|RCV000379823;	N	MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710\|Human Phenotype Ontology:HP:0001159,Human Phenotype Ontology:HP:0001206,Human Phenotype Ontology:HP:0001236,MONDO:MONDO:0021002,MedGen:C0039075\|MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550	6	121769905	121769906	NC_000006.11:g.121769914_121769915dupTT	ClinGen:CA10622870	CN031062 241550 Hypoplastic left heart syndrome 1;
NM_000165.5(GJA1):c.*773dup	2697	GJA1	Benign	397698276	RCV000271029\|RCV000328478\|RCV000376154;	N	MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|Human Phenotype Ontology:HP:0001159,Human Phenotype Ontology:HP:0001206,Human Phenotype Ontology:HP:0001236,MONDO:MONDO:0021002,MedGen:C0039075\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200	6	121769905	121769906	NC_000006.11:g.121769915dupT	ClinGen:CA10622872	CN031062 241550 Hypoplastic left heart syndrome 1;
NM_000165.5(GJA1):c.*773del	2697	GJA1	Uncertain significance	397698276	RCV000278385\|RCV000335976\|RCV000397040;	N	Human Phenotype Ontology:HP:0001159,Human Phenotype Ontology:HP:0001206,Human Phenotype Ontology:HP:0001236,MONDO:MONDO:0021002,MedGen:C0039075\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710\|MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550	6	121769906	121769906	NC_000006.11:g.121769915del	ClinGen:CA10622871	CN031062 241550 Hypoplastic left heart syndrome 1;
NM_000165.5(GJA1):c.*832C>G	2697	GJA1	Uncertain significance	773394030	RCV001153454\|RCV001153456\|RCV001153455;	N	MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404\|MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710	6	121769974	121769974	6:g.121769974C>G	-
NM_000165.5(GJA1):c.*888C>A	2697	GJA1	Uncertain significance	1329687638	RCV001153457\|RCV001153458\|RCV001153459;	N	MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710\|MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404	6	121770030	121770030	6:g.121770030C>A	-
NM_000165.5(GJA1):c.916_918del	2697	GJA1	Uncertain significance	886061018	RCV000282101\|RCV000348773\|RCV000397032;	N	MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710\|Human Phenotype Ontology:HP:0001159,Human Phenotype Ontology:HP:0001206,Human Phenotype Ontology:HP:0001236,MONDO:MONDO:0021002,MedGen:C0039075\|MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550	6	121770058	121770060	NC_000006.11:g.121770058_121770060del	ClinGen:CA10625707	CN031062 241550 Hypoplastic left heart syndrome 1;
NM_000165.5(GJA1):c.*926A>T	2697	GJA1	Uncertain significance	765290352	RCV001156041\|RCV001156042\|RCV001156043;	N	MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710\|MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404	6	121770068	121770068	6:g.121770068A>T	-
NM_000165.5(GJA1):c.*968T>C	2697	GJA1	Benign	111878880	RCV000315044\|RCV000362760\|RCV000400715;	N	MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710\|MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248	6	121770110	121770110	NC_000006.11:g.121770110T>C	ClinGen:CA10622873	CN031062 241550 Hypoplastic left heart syndrome 1;
NM_000165.5(GJA1):c.*992G>A	2697	GJA1	Uncertain significance	903940354	RCV001156044\|RCV001156045\|RCV001157762;	N	MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710\|MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404	6	121770134	121770134	6:g.121770134G>A	-
NM_000165.5(GJA1):c.1018_1021del	2697	GJA1	Likely benign	375943953	RCV000267634\|RCV000321742\|RCV000360032;	N	MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710\|MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|Human Phenotype Ontology:HP:0001159,Human Phenotype Ontology:HP:0001206,Human Phenotype Ontology:HP:0001236,MONDO:MONDO:0021002,M	6	121770155	121770158	NC_000006.11:g.121770160_121770163del	ClinGen:CA10625712	CN031062 241550 Hypoplastic left heart syndrome 1;
NM_000165.5(GJA1):c.1020_1021del	2697	GJA1	Uncertain significance	375943953	RCV000264223\|RCV000308963\|RCV000365931;	N	Human Phenotype Ontology:HP:0001159,Human Phenotype Ontology:HP:0001206,Human Phenotype Ontology:HP:0001236,MONDO:MONDO:0021002,MedGen:C0039075\|MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200	6	121770155	121770156	NC_000006.11:g.121770162_121770163del	ClinGen:CA10625804	CN031062 241550 Hypoplastic left heart syndrome 1;
NM_000165.5(GJA1):c.*1043T>C	2697	GJA1	Uncertain significance	886061021	RCV000261548\|RCV000315877\|RCV000372782;	N	MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710	6	121770185	121770185	NC_000006.11:g.121770185T>C	ClinGen:CA10622874	CN031062 241550 Hypoplastic left heart syndrome 1;
NM_000165.5(GJA1):c.*1077T>C	2697	GJA1	Uncertain significance	528853645	RCV000293467\|RCV000319116\|RCV000385368;	N	MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710\|MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248	6	121770219	121770219	NC_000006.11:g.121770219T>C	ClinGen:CA10621325	CN031062 241550 Hypoplastic left heart syndrome 1;
NM_000165.5(GJA1):c.*1101T>C	2697	GJA1	Uncertain significance	886061022	RCV000288331\|RCV000351539\|RCV000389763;	N	MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710\|MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404	6	121770243	121770243	NC_000006.11:g.121770243T>C	ClinGen:CA10621326	CN031062 241550 Hypoplastic left heart syndrome 1;
NM_000165.5(GJA1):c.*1143T>G	2697	GJA1	Uncertain significance	765423162	RCV001152276\|RCV001152277\|RCV001152278;	N	MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710\|MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404	6	121770285	121770285	6:g.121770285T>G	-
NM_000165.5(GJA1):c.*1204A>G	2697	GJA1	Uncertain significance	1773943656	RCV001152280\|RCV001152281\|RCV001152279;	N	MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710	6	121770346	121770346	6:g.121770346A>G	-
NM_000165.5(GJA1):c.*1252A>G	2697	GJA1	Uncertain significance	976353489	RCV001153556\|RCV001153554\|RCV001153555;	N	MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710	6	121770394	121770394	6:g.121770394A>G	-
NM_000165.5(GJA1):c.*1322A>T	2697	GJA1	Benign	12212865	RCV000310770\|RCV000345686\|RCV000395069;	N	MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710\|MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404	6	121770464	121770464	NC_000006.11:g.121770464A>T	ClinGen:CA10625713	CN031062 241550 Hypoplastic left heart syndrome 1;
NM_000165.5(GJA1):c.*1334T>C	2697	GJA1	Uncertain significance	749953074	RCV001153558\|RCV001153557\|RCV001156176;	N	MONDO:MONDO:0008514,MedGen:C1861366,OMIM:186100, Orphanet:93404\|MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200, Orphanet:2710	6	121770476	121770476	6:g.121770476T>C	-
NM_000165.5(GJA1):c.*1733C>T	2697	GJA1	Benign	78394273	RCV000277207\|RCV000313768\|RCV000368496;	N	Human Phenotype Ontology:HP:0001159,Human Phenotype Ontology:HP:0001206,Human Phenotype Ontology:HP:0001236,MONDO:MONDO:0021002,MedGen:C0039075\|MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|MONDO:MONDO:0008111,MedGen:C0812437,OMIM:164200	6	121770875	121770875	6:g.121770875C>T	ClinGen:CA10654694	CN031062 241550 Hypoplastic left heart syndrome 1;
NM_004821.3(HAND1):c.587A>G (p.Lys196Arg)	9421	HAND1	Uncertain significance	878854747	RCV000227604\|RCV001343245;	N	MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|Human Phenotype Ontology:HP:0004383,MONDO:MONDO:0004933,MedGen:C0152101,OMIM:PS241550, Orphanet:2248	5	153855427	153855427	5:g.153855427T>C	ClinGen:CA10582410	CN031062 241550 Hypoplastic left heart syndrome 1;
NM_004821.3(HAND1):c.289G>T (p.Gly97Cys)	9421	HAND1	Uncertain significance	878854746	RCV000232915\|RCV001317302;	N	MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248\|Human Phenotype Ontology:HP:0004383,MONDO:MONDO:0004933,MedGen:C0152101,OMIM:PS241550, Orphanet:2248	5	153857280	153857280	5:g.153857280C>A	ClinGen:CA10582411	CN031062 241550 Hypoplastic left heart syndrome 1;
GRCh37/hg19 1q21.1-21.2(chr1:145792051-148001265)	-1	subset of 11 genes: GJA5:GJA8	Pathogenic	-1	RCV002280613;	N	MONDO:MONDO:0009433,MedGen:C4551854,OMIM:241550, Orphanet:2248	1	145792051	148001265	-1	-

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