Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_012082.4(ZFPM2):c.2107A>C (p.Met703Leu)	SNV Germline	Chr8:105802189	Conflicting classifications of pathogenicity	Diaphragmatic hernia 3 Double outlet right ventricle 46,XY sex reversal 3 Condition: not provided 46,XY sex reversal 9 not specified 46,XY sex reversal 9 Tetralogy of Fallot Diaphragmatic hernia 3 ZFPM2-related disorder	Criteria Provided Conflicting Classifications	CA117963	rs_121908603	10 SubmittersRCV000006504 RCV000032715 RCV001007705 RCV001529320 RCV000861889 RCV003330385 RCV005394128 RCV003914814
NM_000214.3(JAG1):c.550C>T (p.Arg184Cys)	SNV Germline	Chr20:10658612	Pathogenic	Alagille syndrome due to a JAG1 point mutation Condition: not provided JAG1-related disorder Charcot-Marie-Tooth disease, axonal, Type 2HH Deafness, congenital heart defects, and posterior embryotoxon Tetralogy of Fallot Alagille syndrome due to a JAG1 point mutation	Criteria Provided Multiple Submitters No Conflicts	CA254222	rs_121918350	7 SubmittersRCV000008058 RCV000729764 RCV004739294 RCV005031418
NM_000214.3(JAG1):c.821G>A (p.Gly274Asp)	SNV Germline	Chr20:10652533	Likely pathogenic	Tetralogy of Fallot Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA248605	rs_28939668	2 SubmittersRCV000008063 RCV000555146
NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys)	SNV Germline	Chr5:173235011	Conflicting classifications of pathogenicity	Tetralogy of Fallot Hypothyroidism, congenital, nongoitrous, 5 Aortic arch interruption Hypoplastic left heart syndrome 2 not specified Congenital heart disease Cardiovascular phenotype Atrial septal defect 7 Condition: not provided Persistent truncus arteriosus	Criteria Provided Conflicting Classifications	CA120055	rs_28936670	11 SubmittersRCV000009572 RCV000009573 RCV000023017 RCV000023019 RCV000037968 RCV000030339 RCV000619696 RCV000987632 RCV003311655 RCV004794326
NM_004387.4(NKX2-5):c.61G>C (p.Glu21Gln)	SNV Germline	Chr5:173235023	Conflicting classifications of pathogenicity	Tetralogy of Fallot Congenital heart disease not specified Condition: not provided Cardiovascular phenotype Atrial septal defect 7	Criteria Provided Conflicting Classifications	CA214394	rs_104893904	10 SubmittersRCV000009574 RCV000030618 RCV000171013 RCV000514277 RCV000618034 RCV000987633
NM_001308093.3(GATA4):c.1276G>A (p.Asp426Asn)	SNV Germline	Chr8:11758419	Conflicting classifications of pathogenicity	Atrial septal defect 2 Tetralogy of Fallot Pulmonic stenosis Tricuspid regurgitation Pulmonary valve atresia Inborn genetic diseases not specified Condition: not provided Atrioventricular septal defect 4 GATA4-related disorder Congenital heart disease Ventricular septal defect 1 Atrioventricular septal defect 4 Testicular anomalies with or without congenital heart disease Tetralogy of Fallot Atrial septal defect 2	Criteria Provided Conflicting Classifications	CA204708	rs_56208331	12 SubmittersRCV000009600 RCV000009601 RCV000626818 RCV000190715 RCV001794439 RCV000431077 RCV000988036 RCV004018606 RCV002470705 RCV005357100
NM_001308093.3(GATA4):c.487C>T (p.Pro163Ser)	SNV Germline	Chr8:11708799	Conflicting classifications of pathogenicity	Atrioventricular septal defect 4 Tetralogy of Fallot Ventricular septal defect 1 Condition: not provided Testicular anomalies with or without congenital heart disease Male infertility with azoospermia or oligozoospermia due to single gene mutation Atrial septal defect 2 Atrioventricular septal defect 4 Ventricular septal defect 1 Tetralogy of Fallot Testicular anomalies with or without congenital heart disease Atrial septal defect 2 Atrioventricular septal defect 4 Ventricular septal defect 1	Criteria Provided Conflicting Classifications	CA212669	rs_387906769	9 SubmittersRCV000023002 RCV000023004 RCV000023003 RCV001753426 RCV002470717 RCV003991569 RCV005051737 RCV005364887
NM_001308093.3(GATA4):c.1223C>A (p.Pro408Gln)	SNV Germline	Chr8:11758366	Conflicting classifications of pathogenicity	Atrial septal defect 2 Ventricular septal defect 1 Atrioventricular septal defect 4 Tetralogy of Fallot not specified Condition: not provided Testicular anomalies with or without congenital heart disease 46,XY sex reversal 3 Ventricular septal defect 1 Atrioventricular septal defect 4 Microcephaly	Criteria Provided Conflicting Classifications	CA212683	rs_115099192	8 SubmittersRCV000490358 RCV000023008 RCV001195378 RCV001555802 RCV002272027 RCV001007695 RCV000030949 RCV000526826 RCV001252768
NM_005257.6(GATA6):c.592C>G (p.Leu198Val)	SNV Germline	Chr18:22171736	Conflicting classifications of pathogenicity	Tetralogy of Fallot Atrioventricular septal defect 5 Monogenic diabetes Condition: not provided	Criteria Provided Conflicting Classifications	CA248633	rs_387906814	5 SubmittersRCV000023129 RCV000650081 RCV001174441 RCV001588823
NM_005257.6(GATA6):c.551G>A (p.Ser184Asn)	SNV Germline	Chr18:22171695	Conflicting classifications of pathogenicity	Atrial septal defect 9 Tetralogy of Fallot Atrioventricular septal defect 5 Condition: not provided Atrioventricular septal defect 5 Atrial septal defect 9 Tetralogy of Fallot Conotruncal heart malformations Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	Criteria Provided Conflicting Classifications	CA129026	rs_387906816	6 SubmittersRCV000023131 RCV000023132 RCV000990075 RCV001847620 RCV005025078
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile)	SNV Germline	Chr8:105801714	Conflicting classifications of pathogenicity	Tetralogy of Fallot 46,XY sex reversal 9 Condition: not provided not specified Tetralogy of Fallot Diaphragmatic hernia 3 46,XY sex reversal 9 ZFPM2-related disorder 46,XY sex reversal 3	Criteria Provided Conflicting Classifications	CA170935	rs_187043152	12 SubmittersRCV000032716 RCV000144723 RCV000514546 RCV000455350 RCV005394189 RCV003974865 RCV001007702
NM_001308093.3(GATA4):c.825C>T (p.Cys275=)	SNV Germline	Chr8:11750149	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Atrioventricular septal defect 4 Atrial septal defect 2 Tetralogy of Fallot Ventricular septal defect 1 Primary dilated cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA133997	rs_55980825	12 SubmittersRCV000037324 RCV000249584 RCV000228063 RCV000577946 RCV000577944 RCV000578024 RCV000578059 RCV001529780
NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser)	SNV Germline	Chr20:10648607	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Condition: not provided Isolated Nonsyndromic Congenital Heart Disease Alagille syndrome due to a JAG1 point mutation Charcot-Marie-Tooth disease, axonal, Type 2HH Deafness, congenital heart defects, and posterior embryotoxon Tetralogy of Fallot	Criteria Provided Conflicting Classifications	CA270004	rs_527236046	6 SubmittersRCV000132568 RCV000597619 RCV001138646 RCV002498649
NM_000214.3(JAG1):c.3308C>T (p.Thr1103Ile)	SNV Germline	Chr20:10639847	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Alagille syndrome due to a JAG1 point mutation Alagille syndrome due to a JAG1 point mutation Charcot-Marie-Tooth disease, axonal, Type 2HH Deafness, congenital heart defects, and posterior embryotoxon Tetralogy of Fallot	Criteria Provided Conflicting Classifications	CA242623	rs_781429347	5 SubmittersRCV000176613 RCV004992051 RCV002516710 RCV005025282
NM_000214.3(JAG1):c.2230C>T (p.Arg744Ter)	SNV Germline	Chr20:10644977	Pathogenic	Condition: not provided Alagille syndrome due to a JAG1 point mutation JAG1-related disorder Deafness, congenital heart defects, and posterior embryotoxon Charcot-Marie-Tooth disease, axonal, Type 2HH Alagille syndrome due to a JAG1 point mutation Tetralogy of Fallot	Criteria Provided Multiple Submitters No Conflicts	CA321376	rs_863223655	9 SubmittersRCV000196949 RCV001038520 RCV004553068 RCV005025314
NM_004387.4(NKX2-5):c.443C>A (p.Ala148Glu)	SNV Germline	Chr5:173233101	Likely pathogenic	Congenital heart disease Tetralogy of Fallot	Criteria Provided Single Submitter	CA279927	rs_864321649	2 SubmittersRCV000203525 RCV004813078
NM_017617.5(NOTCH1):c.578G>A (p.Gly193Asp)	SNV Germline	Chr9:136523014	Pathogenic	Tetralogy of Fallot	No Assertion Criteria Provided	CA10602398	rs_774966208	1 SubmittersRCV000408653
NM_000214.3(JAG1):c.2666G>A (p.Arg889Gln)	SNV Germline	Chr20:10641799	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation Deafness, congenital heart defects, and posterior embryotoxon Alagille syndrome due to a JAG1 point mutation Tetralogy of Fallot Cardiovascular phenotype Deafness, congenital heart defects, and posterior embryotoxon Alagille syndrome due to a JAG1 point mutation Tetralogy of Fallot Charcot-Marie-Tooth disease, axonal, Type 2HH	Criteria Provided Conflicting Classifications	CA9764423	rs_149419694	7 SubmittersRCV000220286 RCV000476409 RCV000765486 RCV002429080 RCV005396730
NM_000214.3(JAG1):c.2312A>G (p.Lys771Arg)	SNV Germline	Chr20:10644895	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation Deafness, congenital heart defects, and posterior embryotoxon Alagille syndrome due to a JAG1 point mutation Tetralogy of Fallot Charcot-Marie-Tooth disease, axonal, Type 2HH	Criteria Provided Conflicting Classifications	CA9764558	rs_149949294	3 SubmittersRCV000223517 RCV001322306 RCV002485443
NM_000214.3(JAG1):c.860A>G (p.Asn287Ser)	SNV Germline	Chr20:10652494	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation Deafness, congenital heart defects, and posterior embryotoxon Alagille syndrome due to a JAG1 point mutation Tetralogy of Fallot Charcot-Marie-Tooth disease, axonal, Type 2HH Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9765038	rs_768317581	4 SubmittersRCV000213865 RCV001369966 RCV002485440 RCV002444870
NM_000214.3(JAG1):c.703C>T (p.Arg235Ter)	SNV Germline	Chr20:10656450	Pathogenic	Condition: not provided Alagille syndrome due to a JAG1 point mutation Deafness, congenital heart defects, and posterior embryotoxon Alagille syndrome due to a JAG1 point mutation Tetralogy of Fallot Charcot-Marie-Tooth disease, axonal, Type 2HH JAG1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10577624	rs_876660980	7 SubmittersRCV000218714 RCV000820770 RCV005025367 RCV004547565
NM_000214.3(JAG1):c.1195G>A (p.Val399Met)	SNV Germline	Chr20:10650286	Conflicting classifications of pathogenicity	not specified Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype Alagille syndrome due to a JAG1 point mutation Deafness, congenital heart defects, and posterior embryotoxon Tetralogy of Fallot Charcot-Marie-Tooth disease, axonal, Type 2HH	Criteria Provided Conflicting Classifications	CA9764957	rs_181970528	4 SubmittersRCV000244469 RCV001237017 RCV002338795 RCV005025398
NM_000214.3(JAG1):c.1395+3A>G	SNV Germline	Chr20:10649058	Pathogenic	Condition: not provided Alagille syndrome due to a JAG1 point mutation Tetralogy of Fallot	Criteria Provided Multiple Submitters No Conflicts	CA10606495	rs_886044220	4 SubmittersRCV000320018 RCV001218520 RCV004021282
NM_000214.3(JAG1):c.2300C>T (p.Thr767Met)	SNV Germline	Chr20:10644907	Conflicting classifications of pathogenicity	Isolated Nonsyndromic Congenital Heart Disease Cardiovascular phenotype Condition: not provided Deafness, congenital heart defects, and posterior embryotoxon Alagille syndrome due to a JAG1 point mutation Tetralogy of Fallot Charcot-Marie-Tooth disease, axonal, Type 2HH Alagille syndrome due to a JAG1 point mutation	Criteria Provided Conflicting Classifications	CA9764562	rs_140330283	5 SubmittersRCV000357300 RCV000618450 RCV000730538 RCV002487494 RCV000645019
NM_000214.3(JAG1):c.756-14C>T	SNV Germline	Chr20:10652612	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Isolated Nonsyndromic Congenital Heart Disease Deafness, congenital heart defects, and posterior embryotoxon Alagille syndrome due to a JAG1 point mutation Tetralogy of Fallot Charcot-Marie-Tooth disease, axonal, Type 2HH	Criteria Provided Conflicting Classifications	CA9765048	rs_757351921	3 SubmittersRCV002057726 RCV000400703 RCV005027436
NM_005257.6(GATA6):c.1663C>G (p.Pro555Ala)	SNV Germline	Chr18:22200698	Conflicting classifications of pathogenicity	Atrioventricular septal defect 5 Inborn genetic diseases Conotruncal heart malformations Pancreatic hypoplasia-diabetes-congenital heart disease syndrome Atrioventricular septal defect 5 Atrial septal defect 9 Tetralogy of Fallot Condition: not provided	Criteria Provided Conflicting Classifications	CA8909066	rs_146243018	5 SubmittersRCV000470809 RCV002525630 RCV003224291 RCV001764455
NM_000214.3(JAG1):c.3467T>C (p.Val1156Ala)	SNV Germline	Chr20:10639688	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation Deafness, congenital heart defects, and posterior embryotoxon Alagille syndrome due to a JAG1 point mutation Tetralogy of Fallot Conotruncal heart malformations	Criteria Provided Conflicting Classifications	CA9764206	rs_143966918	6 SubmittersRCV000730936 RCV000687251 RCV000765484 RCV005621953
NM_000214.3(JAG1):c.2827C>T (p.Pro943Ser)	SNV Germline	Chr20:10641549	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Deafness, congenital heart defects, and posterior embryotoxon Charcot-Marie-Tooth disease, axonal, Type 2HH Alagille syndrome due to a JAG1 point mutation Tetralogy of Fallot Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9764386	rs_760332763	3 SubmittersRCV000533650 RCV002491063 RCV004024061
NM_001379200.1(TBX1):c.412G>A (p.Glu138Lys)	SNV Germline	Chr22:19761255	Conflicting classifications of pathogenicity	Tetralogy of Fallot DiGeorge syndrome	Criteria Provided Conflicting Classifications	CA410681809	rs_1445910672	2 SubmittersRCV000578422 RCV000702287
NM_000214.3(JAG1):c.19C>T (p.Arg7Cys)	SNV Germline	Chr20:10673512	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation Alagille syndrome due to a JAG1 point mutation Deafness, congenital heart defects, and posterior embryotoxon Charcot-Marie-Tooth disease, axonal, Type 2HH Tetralogy of Fallot Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA311357576	rs_563232654	5 SubmittersRCV000592427 RCV001039478 RCV002476291 RCV003160015
NM_000214.3(JAG1):c.521C>T (p.Thr174Met)	SNV Germline	Chr20:10658641	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation Alagille syndrome due to a JAG1 point mutation Deafness, congenital heart defects, and posterior embryotoxon Charcot-Marie-Tooth disease, axonal, Type 2HH Tetralogy of Fallot	Criteria Provided Conflicting Classifications	CA9765115	rs_144999773	4 SubmittersRCV000658070 RCV000697734 RCV002491201
NM_000214.3(JAG1):c.3652G>A (p.Val1218Ile)	SNV Germline	Chr20:10639503	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype Alagille syndrome due to a JAG1 point mutation Deafness, congenital heart defects, and posterior embryotoxon Charcot-Marie-Tooth disease, axonal, Type 2HH Tetralogy of Fallot JAG1-related disorder	Criteria Provided Conflicting Classifications	CA9764165	rs_150295026	5 SubmittersRCV000596800 RCV001854061 RCV002456305 RCV002491208 RCV004553327
NM_000214.3(JAG1):c.3346C>T (p.Arg1116Trp)	SNV Germline	Chr20:10639809	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype JAG1-related disorder Alagille syndrome due to a JAG1 point mutation Deafness, congenital heart defects, and posterior embryotoxon Charcot-Marie-Tooth disease, axonal, Type 2HH Tetralogy of Fallot	Criteria Provided Conflicting Classifications	CA9764218	rs_377723772	5 SubmittersRCV000598181 RCV000810621 RCV002325129 RCV004553329 RCV005034169
NM_000214.3(JAG1):c.2927C>T (p.Thr976Met)	SNV Germline	Chr20:10641234	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation Alagille syndrome due to a JAG1 point mutation Deafness, congenital heart defects, and posterior embryotoxon Tetralogy of Fallot Charcot-Marie-Tooth disease, axonal, Type 2HH Cardiovascular phenotype JAG1-related disorder	Criteria Provided Conflicting Classifications	CA9764340	rs_751809412	7 SubmittersRCV000591569 RCV001482684 RCV005027711 RCV002438541 RCV004740358
NM_000214.3(JAG1):c.1308C>T (p.Cys436=)	SNV Germline	Chr20:10649562	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype Alagille syndrome due to a JAG1 point mutation Deafness, congenital heart defects, and posterior embryotoxon Tetralogy of Fallot Charcot-Marie-Tooth disease, axonal, Type 2HH	Criteria Provided Conflicting Classifications	CA9764919	rs_764485729	5 SubmittersRCV000592331 RCV001345958 RCV004629251 RCV005027713
NM_000214.3(JAG1):c.2305G>A (p.Val769Ile)	SNV Germline	Chr20:10644902	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Alagille syndrome due to a JAG1 point mutation Alagille syndrome due to a JAG1 point mutation Deafness, congenital heart defects, and posterior embryotoxon Charcot-Marie-Tooth disease, axonal, Type 2HH Tetralogy of Fallot	Criteria Provided Conflicting Classifications	CA9764559	rs_754301929	4 SubmittersRCV000591788 RCV002448839 RCV002532683 RCV005027717
NM_001379200.1(TBX1):c.1076G>A (p.Gly359Asp)	SNV Germline	Chr22:19766428	Conflicting classifications of pathogenicity	Cardiovascular phenotype Conotruncal heart malformations Velocardiofacial syndrome DiGeorge syndrome Tetralogy of Fallot DiGeorge syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA10102660	rs_781731042	7 SubmittersRCV000618252 RCV000765609 RCV000876712 RCV001574708 RCV003479173
NM_000214.3(JAG1):c.2429C>T (p.Pro810Leu)	SNV Germline	Chr20:10643807	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Condition: not provided Tetralogy of Fallot	Criteria Provided Conflicting Classifications	CA9764505	rs_769531968	7 SubmittersRCV000626071 RCV000730482 RCV000755708
NM_000214.3(JAG1):c.1794C>G (p.Val598=)	SNV Germline	Chr20:10647030	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Alagille syndrome due to a JAG1 point mutation Tetralogy of Fallot Charcot-Marie-Tooth disease, axonal, Type 2HH Deafness, congenital heart defects, and posterior embryotoxon	Criteria Provided Conflicting Classifications	CA509661330	rs_200580391	2 SubmittersRCV000645028 RCV005034216
NM_000214.3(JAG1):c.3391G>A (p.Ala1131Thr)	SNV Germline	Chr20:10639764	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Alagille syndrome due to a JAG1 point mutation Tetralogy of Fallot Deafness, congenital heart defects, and posterior embryotoxon JAG1-related disorder	Criteria Provided Conflicting Classifications	CA9764212	rs_769242977	3 SubmittersRCV000645016 RCV000765485 RCV004547815
NM_000214.3(JAG1):c.1367G>A (p.Gly456Asp)	SNV Germline	Chr20:10649089	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation Alagille syndrome due to a JAG1 point mutation Tetralogy of Fallot Deafness, congenital heart defects, and posterior embryotoxon Charcot-Marie-Tooth disease, axonal, Type 2HH	Criteria Provided Conflicting Classifications	CA9764891	rs_534533867	3 SubmittersRCV000732141 RCV000694563 RCV002477575
NM_000214.3(JAG1):c.2350A>G (p.Asn784Asp)	SNV Germline	Chr20:10644379	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype Tetralogy of Fallot Charcot-Marie-Tooth disease, axonal, Type 2HH Deafness, congenital heart defects, and posterior embryotoxon Alagille syndrome due to a JAG1 point mutation	Criteria Provided Conflicting Classifications	CA9764529	rs_760470297	4 SubmittersRCV000728261 RCV001037675 RCV002442550 RCV005027897
NM_000214.3(JAG1):c.5G>T (p.Arg2Leu)	SNV Germline	Chr20:10673526	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation Tetralogy of Fallot Charcot-Marie-Tooth disease, axonal, Type 2HH Deafness, congenital heart defects, and posterior embryotoxon Alagille syndrome due to a JAG1 point mutation JAG1-related disorder	Criteria Provided Conflicting Classifications	CA311357585	rs_1026004197	5 SubmittersRCV000729658 RCV001270881 RCV002499351 RCV004547925
NM_000214.3(JAG1):c.3638G>A (p.Arg1213Gln)	SNV Germline	Chr20:10639517	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation Tetralogy of Fallot Charcot-Marie-Tooth disease, axonal, Type 2HH Deafness, congenital heart defects, and posterior embryotoxon Alagille syndrome due to a JAG1 point mutation JAG1-related disorder	Criteria Provided Conflicting Classifications	CA9764169	rs_138007561	5 SubmittersRCV000729669 RCV001226725 RCV002485869 RCV004740434
NM_000214.3(JAG1):c.1309G>A (p.Asp437Asn)	SNV Germline	Chr20:10649561	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation Charcot-Marie-Tooth disease, axonal, Type 2HH Alagille syndrome due to a JAG1 point mutation Deafness, congenital heart defects, and posterior embryotoxon Tetralogy of Fallot Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9764918	rs_758876727	4 SubmittersRCV000730832 RCV001855645 RCV002493329 RCV005582417
NM_000214.3(JAG1):c.3524C>T (p.Ala1175Val)	SNV Germline	Chr20:10639631	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype Alagille syndrome due to a JAG1 point mutation Tetralogy of Fallot Deafness, congenital heart defects, and posterior embryotoxon Charcot-Marie-Tooth disease, axonal, Type 2HH JAG1-related disorder	Criteria Provided Conflicting Classifications	CA311367334	rs_918046091	5 SubmittersRCV000733299 RCV001057425 RCV002458350 RCV005027915 RCV004547936
NM_000214.3(JAG1):c.2779G>A (p.Val927Ile)	SNV Germline	Chr20:10641597	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Alagille syndrome due to a JAG1 point mutation Alagille syndrome due to a JAG1 point mutation Tetralogy of Fallot Deafness, congenital heart defects, and posterior embryotoxon Charcot-Marie-Tooth disease, axonal, Type 2HH	Criteria Provided Conflicting Classifications	CA9764395	rs_770415804	4 SubmittersRCV000734627 RCV002440583 RCV002536524 RCV005029400
NM_000214.3(JAG1):c.248A>G (p.Gln83Arg)	SNV Germline	Chr20:10672840	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation Tetralogy of Fallot Deafness, congenital heart defects, and posterior embryotoxon Charcot-Marie-Tooth disease, axonal, Type 2HH Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9765191	rs_376092818	4 SubmittersRCV000734693 RCV002485942 RCV003768246 RCV002424747
NM_000214.3(JAG1):c.3127G>A (p.Asp1043Asn)	SNV Germline	Chr20:10640855	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation Alagille syndrome due to a JAG1 point mutation Tetralogy of Fallot Deafness, congenital heart defects, and posterior embryotoxon Charcot-Marie-Tooth disease, axonal, Type 2HH Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA408244082	rs_1278689263	4 SubmittersRCV000734924 RCV001340733 RCV002493364 RCV004027097
NM_001379200.1(TBX1):c.1401C>G (p.Pro467=)	SNV Germline	Chr22:19766753	Conflicting classifications of pathogenicity	Tetralogy of Fallot DiGeorge syndrome Cardiovascular phenotype Conotruncal heart malformations DiGeorge syndrome Velocardiofacial syndrome Tetralogy of Fallot	Criteria Provided Conflicting Classifications	CA10102739	rs_753192876	4 SubmittersRCV000735273 RCV002535423 RCV002386310 RCV002493365
NM_001379200.1(TBX1):c.351C>T (p.Ala117=)	SNV Germline	Chr22:19761194	Conflicting classifications of pathogenicity	DiGeorge syndrome Conotruncal heart malformations Velocardiofacial syndrome Tetralogy of Fallot Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10102401	rs_757290764	2 SubmittersRCV000768330 RCV002325462
NM_001379200.1(TBX1):c.1178C>A (p.Pro393Gln)	SNV Germline	Chr22:19766530	Conflicting classifications of pathogenicity	DiGeorge syndrome Condition: not provided Conotruncal heart malformations DiGeorge syndrome Tetralogy of Fallot Velocardiofacial syndrome	Criteria Provided Conflicting Classifications	CA322058209	rs_918788695	3 SubmittersRCV000983966 RCV003327473 RCV002488070
NM_000214.3(JAG1):c.3007G>A (p.Glu1003Lys)	SNV Germline	Chr20:10641154	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Alagille syndrome due to a JAG1 point mutation Deafness, congenital heart defects, and posterior embryotoxon Charcot-Marie-Tooth disease, axonal, Type 2HH Tetralogy of Fallot JAG1-related disorder	Criteria Provided Conflicting Classifications	CA9764325	rs_781509375	3 SubmittersRCV001047259 RCV002497386 RCV004553584
NM_000214.3(JAG1):c.2792C>T (p.Thr931Ile)	SNV Germline	Chr20:10641584	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Alagille syndrome due to a JAG1 point mutation Deafness, congenital heart defects, and posterior embryotoxon Charcot-Marie-Tooth disease, axonal, Type 2HH Tetralogy of Fallot	Criteria Provided Conflicting Classifications	CA9764393	rs_368032094	2 SubmittersRCV001044255 RCV002481911
NM_000214.3(JAG1):c.1115C>T (p.Ser372Phe)	SNV Germline	Chr20:10651586	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype JAG1-related disorder Alagille syndrome due to a JAG1 point mutation Deafness, congenital heart defects, and posterior embryotoxon Tetralogy of Fallot Charcot-Marie-Tooth disease, axonal, Type 2HH not specified	Criteria Provided Conflicting Classifications	CA9764979	rs_772669312	5 SubmittersRCV001053508 RCV002436610 RCV004553593 RCV005036347 RCV005436971
NM_000214.3(JAG1):c.3385C>A (p.His1129Asn)	SNV Germline	Chr20:10639770	Conflicting classifications of pathogenicity	Isolated Nonsyndromic Congenital Heart Disease Alagille syndrome due to a JAG1 point mutation Alagille syndrome due to a JAG1 point mutation Deafness, congenital heart defects, and posterior embryotoxon Tetralogy of Fallot Charcot-Marie-Tooth disease, axonal, Type 2HH	Criteria Provided Conflicting Classifications	CA9764215	rs_768642155	3 SubmittersRCV001142857 RCV001201469 RCV005029713
NM_000214.3(JAG1):c.74G>A (p.Arg25Gln)	SNV Germline	Chr20:10673457	Conflicting classifications of pathogenicity	Isolated Nonsyndromic Congenital Heart Disease Alagille syndrome due to a JAG1 point mutation not specified Alagille syndrome due to a JAG1 point mutation Deafness, congenital heart defects, and posterior embryotoxon Tetralogy of Fallot Charcot-Marie-Tooth disease, axonal, Type 2HH	Criteria Provided Conflicting Classifications	CA408244062	rs_1265642949	4 SubmittersRCV001138324 RCV001318229 RCV003987786 RCV005029705
NM_000214.3(JAG1):c.3506G>A (p.Arg1169Gln)	SNV Germline	Chr20:10639649	Conflicting classifications of pathogenicity	Scoliosis Pes planus Aortic dilatation Alagille syndrome due to a JAG1 point mutation Tetralogy of Fallot Charcot-Marie-Tooth disease, axonal, Type 2HH Deafness, congenital heart defects, and posterior embryotoxon Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA408242700	rs_1268561604	4 SubmittersRCV001200019 RCV002484072 RCV003770226 RCV003284036
NM_000214.3(JAG1):c.1205C>G (p.Pro402Arg)	SNV Germline	Chr20:10650276	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Alagille syndrome due to a JAG1 point mutation Tetralogy of Fallot Charcot-Marie-Tooth disease, axonal, Type 2HH Deafness, congenital heart defects, and posterior embryotoxon Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9764954	rs_144204614	3 SubmittersRCV001217867 RCV002491678 RCV005348363
NM_000214.3(JAG1):c.3523G>A (p.Ala1175Thr)	SNV Germline	Chr20:10639632	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Condition: not provided Alagille syndrome due to a JAG1 point mutation Tetralogy of Fallot Deafness, congenital heart defects, and posterior embryotoxon Charcot-Marie-Tooth disease, axonal, Type 2HH	Criteria Provided Conflicting Classifications	CA9764196	rs_769685858	3 SubmittersRCV001207078 RCV004695167 RCV005036461
NM_000214.3(JAG1):c.3065G>A (p.Arg1022Gln)	SNV Germline	Chr20:10640917	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Deafness, congenital heart defects, and posterior embryotoxon Charcot-Marie-Tooth disease, axonal, Type 2HH Tetralogy of Fallot Alagille syndrome due to a JAG1 point mutation Condition: not provided	Criteria Provided Conflicting Classifications	CA9764291	rs_376089631	3 SubmittersRCV001203477 RCV002484096 RCV004768910
NM_000214.3(JAG1):c.1835A>G (p.Lys612Arg)	SNV Germline	Chr20:10646989	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype Alagille syndrome due to a JAG1 point mutation Tetralogy of Fallot Deafness, congenital heart defects, and posterior embryotoxon Charcot-Marie-Tooth disease, axonal, Type 2HH JAG1-related disorder	Criteria Provided Conflicting Classifications	CA9764741	rs_750855317	4 SubmittersRCV001209633 RCV002411771 RCV002484135 RCV004548060
NM_001379200.1(TBX1):c.823G>A (p.Glu275Lys)	SNV Germline	Chr22:19765069	Conflicting classifications of pathogenicity	DiGeorge syndrome Velocardiofacial syndrome Tetralogy of Fallot Conotruncal heart malformations DiGeorge syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10102563	rs_144848597	3 SubmittersRCV001202887 RCV002069302 RCV001570784
NM_000214.3(JAG1):c.3260C>T (p.Thr1087Met)	SNV Germline	Chr20:10639895	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype Alagille syndrome due to a JAG1 point mutation Deafness, congenital heart defects, and posterior embryotoxon Charcot-Marie-Tooth disease, axonal, Type 2HH Tetralogy of Fallot	Criteria Provided Conflicting Classifications	CA9764241	rs_763164530	3 SubmittersRCV001234479 RCV002322124 RCV005029807
NM_000214.3(JAG1):c.2615A>G (p.Asp872Gly)	SNV Germline	Chr20:10641850	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Tetralogy of Fallot Deafness, congenital heart defects, and posterior embryotoxon Alagille syndrome due to a JAG1 point mutation Charcot-Marie-Tooth disease, axonal, Type 2HH	Criteria Provided Conflicting Classifications	CA9764435	rs_111706668	2 SubmittersRCV001246770 RCV002480844
NM_000214.3(JAG1):c.2609T>C (p.Ile870Thr)	SNV Germline	Chr20:10641856	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype Alagille syndrome due to a JAG1 point mutation Charcot-Marie-Tooth disease, axonal, Type 2HH Tetralogy of Fallot Deafness, congenital heart defects, and posterior embryotoxon	Criteria Provided Conflicting Classifications	CA408245370	rs_1386302689	3 SubmittersRCV001242041 RCV005367789 RCV005036524
NM_001379200.1(TBX1):c.503T>C (p.Leu168Pro)	SNV Germline	Chr22:19763306	Likely pathogenic	Tetralogy of Fallot Velocardiofacial syndrome DiGeorge syndrome	Criteria Provided Single Submitter	CA410682299	rs_1936727304	1 SubmittersRCV001249619
NM_005257.6(GATA6):c.23G>A (p.Trp8Ter)	SNV Unknown	Chr18:22171167	Pathogenic	Tetralogy of Fallot	Criteria Provided Single Submitter	CA401798306	rs_2033033528	1 SubmittersRCV001255705
NM_002941.4(ROBO1):c.928C>T (p.Arg310Ter)	SNV Germline	Chr3:78714514	Pathogenic/Likely pathogenic	Tetralogy of Fallot Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA353662449	rs_1431830142	3 SubmittersRCV001290235 RCV001760327
NM_002941.4(ROBO1):c.355C>T (p.Arg119Ter)	SNV Germline	Chr3:78938745	Likely pathogenic	Tetralogy of Fallot Neurooculorenal syndrome	Criteria Provided Multiple Submitters No Conflicts	CA77706949	rs_1017845770	2 SubmittersRCV001290239 RCV004820872
NM_005257.6(GATA6):c.660C>T (p.Gly220=)	SNV Germline	Chr18:22171804	Conflicting classifications of pathogenicity	Atrioventricular septal defect 5 Conotruncal heart malformations Pancreatic hypoplasia-diabetes-congenital heart disease syndrome Atrioventricular septal defect 5 Atrial septal defect 9 Tetralogy of Fallot	Criteria Provided Conflicting Classifications	CA503529190	rs_1385756157	2 SubmittersRCV001295856 RCV002493554
NM_000214.3(JAG1):c.2911T>C (p.Ser971Pro)	SNV Germline	Chr20:10641465	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation JAG1-related disorder Alagille syndrome due to a JAG1 point mutation Deafness, congenital heart defects, and posterior embryotoxon Charcot-Marie-Tooth disease, axonal, Type 2HH Tetralogy of Fallot	Criteria Provided Conflicting Classifications	CA9764369	rs_750570683	3 SubmittersRCV001301911 RCV004740660 RCV002486162
NM_000214.3(JAG1):c.2828C>T (p.Pro943Leu)	SNV Germline	Chr20:10641548	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype Tetralogy of Fallot Deafness, congenital heart defects, and posterior embryotoxon Charcot-Marie-Tooth disease, axonal, Type 2HH Alagille syndrome due to a JAG1 point mutation JAG1-related disorder	Criteria Provided Conflicting Classifications	CA9764385	rs_767826365	4 SubmittersRCV001309210 RCV002437057 RCV002476429 RCV004740663
NM_000214.3(JAG1):c.1465G>A (p.Asp489Asn)	SNV Germline	Chr20:10648653	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype Alagille syndrome due to a JAG1 point mutation Tetralogy of Fallot Charcot-Marie-Tooth disease, axonal, Type 2HH Deafness, congenital heart defects, and posterior embryotoxon	Criteria Provided Conflicting Classifications	CA9764837	rs_370107709	3 SubmittersRCV001317558 RCV002395679 RCV002476481
NM_000214.3(JAG1):c.3329A>G (p.Asn1110Ser)	SNV Germline	Chr20:10639826	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype Charcot-Marie-Tooth disease, axonal, Type 2HH Tetralogy of Fallot Alagille syndrome due to a JAG1 point mutation Deafness, congenital heart defects, and posterior embryotoxon Retinal dystrophy	Criteria Provided Conflicting Classifications	CA9764223	rs_150811951	4 SubmittersRCV001351919 RCV002322306 RCV002486458 RCV004815441
NM_000214.3(JAG1):c.1444G>A (p.Asp482Asn)	SNV Germline	Chr20:10648674	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Condition: not provided Alagille syndrome due to a JAG1 point mutation Tetralogy of Fallot Deafness, congenital heart defects, and posterior embryotoxon Charcot-Marie-Tooth disease, axonal, Type 2HH Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9764841	rs_766370717	4 SubmittersRCV001347805 RCV002469378 RCV005023070 RCV003294367
NM_000214.3(JAG1):c.1321G>A (p.Gly441Ser)	SNV Germline	Chr20:10649549	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype Condition: not provided Alagille syndrome due to a JAG1 point mutation Charcot-Marie-Tooth disease, axonal, Type 2HH Tetralogy of Fallot Deafness, congenital heart defects, and posterior embryotoxon	Criteria Provided Conflicting Classifications	CA408238147	rs_1327002160	4 SubmittersRCV001349261 RCV002384487 RCV003130490 RCV005023075
NM_000214.3(JAG1):c.978G>A (p.Glu326=)	SNV Germline	Chr20:10652159	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Charcot-Marie-Tooth disease, axonal, Type 2HH Tetralogy of Fallot Alagille syndrome due to a JAG1 point mutation Deafness, congenital heart defects, and posterior embryotoxon Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA509661857	rs_1480738447	3 SubmittersRCV001351249 RCV002499704 RCV004629597
NM_000214.3(JAG1):c.349C>G (p.Arg117Gly)	SNV Germline	Chr20:10672739	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Alagille syndrome due to a JAG1 point mutation Charcot-Marie-Tooth disease, axonal, Type 2HH Tetralogy of Fallot Deafness, congenital heart defects, and posterior embryotoxon Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9765176	rs_752608779	4 SubmittersRCV001341202 RCV002499675 RCV004720863 RCV005582709
NM_000214.3(JAG1):c.3562G>A (p.Gly1188Ser)	SNV Germline	Chr20:10639593	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Tetralogy of Fallot Deafness, congenital heart defects, and posterior embryotoxon Alagille syndrome due to a JAG1 point mutation Charcot-Marie-Tooth disease, axonal, Type 2HH Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA311367274	rs_1051571820	3 SubmittersRCV001359315 RCV002486499 RCV004034526
NM_000214.3(JAG1):c.3398C>T (p.Thr1133Met)	SNV Germline	Chr20:10639757	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Alagille syndrome due to a JAG1 point mutation Deafness, congenital heart defects, and posterior embryotoxon Charcot-Marie-Tooth disease, axonal, Type 2HH Tetralogy of Fallot JAG1-related disorder	Criteria Provided Conflicting Classifications	CA9764211	rs_373260040	3 SubmittersRCV001372709 RCV002493898 RCV004550092
NM_000214.3(JAG1):c.2701C>A (p.Pro901Thr)	SNV Germline	Chr20:10641675	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Alagille syndrome due to a JAG1 point mutation Deafness, congenital heart defects, and posterior embryotoxon Tetralogy of Fallot Charcot-Marie-Tooth disease, axonal, Type 2HH Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9764410	rs_372904306	3 SubmittersRCV001369546 RCV002493884 RCV003169894
NM_000214.3(JAG1):c.2715C>T (p.His905=)	SNV Germline	Chr20:10641661	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Alagille syndrome due to a JAG1 point mutation Deafness, congenital heart defects, and posterior embryotoxon Tetralogy of Fallot Charcot-Marie-Tooth disease, axonal, Type 2HH	Criteria Provided Conflicting Classifications	CA509816147	rs_2122596864	2 SubmittersRCV001422254 RCV005038219
NM_001379200.1(TBX1):c.941G>A (p.Arg314Gln)	SNV Germline	Chr22:19765907	Conflicting classifications of pathogenicity	DiGeorge syndrome Conotruncal heart malformations Velocardiofacial syndrome DiGeorge syndrome Tetralogy of Fallot Condition: not provided	Criteria Provided Conflicting Classifications	CA10102637	rs_555522870	4 SubmittersRCV001442626 RCV002495621 RCV004704557
NM_000214.3(JAG1):c.2497G>A (p.Ala833Thr)	SNV Germline	Chr20:10642563	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype Tetralogy of Fallot Alagille syndrome due to a JAG1 point mutation Deafness, congenital heart defects, and posterior embryotoxon Charcot-Marie-Tooth disease, axonal, Type 2HH	Criteria Provided Conflicting Classifications	CA9764483	rs_574205422	3 SubmittersRCV001487548 RCV002432367 RCV002495730
NM_000214.3(JAG1):c.2113+1G>A	SNV Germline	Chr20:10645355	Likely pathogenic	Condition: not provided Alagille syndrome due to a JAG1 point mutation Tetralogy of Fallot Charcot-Marie-Tooth disease, axonal, Type 2HH Deafness, congenital heart defects, and posterior embryotoxon Arteriohepatic dysplasia Alagille syndrome due to a JAG1 point mutation	Criteria Provided Multiple Submitters No Conflicts	CA408235374	rs_1294950721	4 SubmittersRCV001799920 RCV005038328 RCV005414339 RCV003330100
NM_000214.3(JAG1):c.3542G>A (p.Arg1181Lys)	SNV Germline	Chr20:10639613	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Tetralogy of Fallot Deafness, congenital heart defects, and posterior embryotoxon Alagille syndrome due to a JAG1 point mutation Charcot-Marie-Tooth disease, axonal, Type 2HH Cardiovascular phenotype JAG1-related disorder	Criteria Provided Conflicting Classifications	CA9764191	rs_758788135	4 SubmittersRCV001989225 RCV002479705 RCV003170463 RCV004553615
NM_000214.3(JAG1):c.1270G>A (p.Ala424Thr)	SNV Germline	Chr20:10649600	Conflicting classifications of pathogenicity	Tetralogy of Fallot Alagille syndrome due to a JAG1 point mutation Deafness, congenital heart defects, and posterior embryotoxon Charcot-Marie-Tooth disease, axonal, Type 2HH Alagille syndrome due to a JAG1 point mutation	Criteria Provided Conflicting Classifications	CA9764924	rs_755648887	2 SubmittersRCV002506897 RCV001864130
NM_000214.3(JAG1):c.3307A>G (p.Thr1103Ala)	SNV Germline	Chr20:10639848	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype Alagille syndrome due to a JAG1 point mutation Charcot-Marie-Tooth disease, axonal, Type 2HH Tetralogy of Fallot Deafness, congenital heart defects, and posterior embryotoxon	Criteria Provided Conflicting Classifications	CA9764227	rs_750032058	3 SubmittersRCV001872676 RCV002458692 RCV005397088
NM_000214.3(JAG1):c.316A>G (p.Thr106Ala)	SNV Germline	Chr20:10672772	Conflicting classifications of pathogenicity	Cardiovascular phenotype Alagille syndrome due to a JAG1 point mutation Alagille syndrome due to a JAG1 point mutation Tetralogy of Fallot Deafness, congenital heart defects, and posterior embryotoxon Charcot-Marie-Tooth disease, axonal, Type 2HH	Criteria Provided Conflicting Classifications	CA311357318	rs_909905245	3 SubmittersRCV002324391 RCV001992501 RCV002479548
NM_000214.3(JAG1):c.3505C>G (p.Arg1169Gly)	SNV Germline	Chr20:10639650	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Alagille syndrome due to a JAG1 point mutation Tetralogy of Fallot Deafness, congenital heart defects, and posterior embryotoxon Charcot-Marie-Tooth disease, axonal, Type 2HH	Criteria Provided Conflicting Classifications	CA9764200	rs_368162343	2 SubmittersRCV001982731 RCV005025481
NM_000214.3(JAG1):c.3017C>T (p.Pro1006Leu)	SNV Germline	Chr20:10641144	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation See cases Deafness, congenital heart defects, and posterior embryotoxon Tetralogy of Fallot Alagille syndrome due to a JAG1 point mutation Charcot-Marie-Tooth disease, axonal, Type 2HH Condition: not provided	Criteria Provided Conflicting Classifications	CA9764323	rs_747142039	4 SubmittersRCV001981850 RCV004584452 RCV002484630 RCV005428446
NM_000214.3(JAG1):c.3098A>G (p.Asp1033Gly)	SNV Germline	Chr20:10640884	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Alagille syndrome due to a JAG1 point mutation Deafness, congenital heart defects, and posterior embryotoxon Tetralogy of Fallot Charcot-Marie-Tooth disease, axonal, Type 2HH	Criteria Provided Conflicting Classifications	CA9764280	rs_748220102	2 SubmittersRCV001915145 RCV005038465
NM_000214.3(JAG1):c.425G>A (p.Ser142Asn)	SNV Germline	Chr20:10663977	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Alagille syndrome due to a JAG1 point mutation Charcot-Marie-Tooth disease, axonal, Type 2HH Tetralogy of Fallot Deafness, congenital heart defects, and posterior embryotoxon	Criteria Provided Conflicting Classifications	CA408242104	rs_1436395839	2 SubmittersRCV002043128 RCV005025642
NM_000214.3(JAG1):c.3109G>A (p.Asp1037Asn)	SNV Germline	Chr20:10640873	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Alagille syndrome due to a JAG1 point mutation Charcot-Marie-Tooth disease, axonal, Type 2HH Tetralogy of Fallot Deafness, congenital heart defects, and posterior embryotoxon	Criteria Provided Conflicting Classifications	CA9764278	rs_768823146	2 SubmittersRCV002026088 RCV002486707
NM_000214.3(JAG1):c.1329G>A (p.Met443Ile)	SNV Germline	Chr20:10649541	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Deafness, congenital heart defects, and posterior embryotoxon Tetralogy of Fallot Alagille syndrome due to a JAG1 point mutation Charcot-Marie-Tooth disease, axonal, Type 2HH	Criteria Provided Conflicting Classifications	CA9764916	rs_547676061	2 SubmittersRCV002008937 RCV002497970
NM_000214.3(JAG1):c.2307C>T (p.Val769=)	SNV Germline	Chr20:10644900	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation JAG1-related disorder Alagille syndrome due to a JAG1 point mutation Tetralogy of Fallot Deafness, congenital heart defects, and posterior embryotoxon Charcot-Marie-Tooth disease, axonal, Type 2HH	Criteria Provided Conflicting Classifications	CA311345329	rs_1009422076	3 SubmittersRCV001910914 RCV004741129 RCV005023382
NM_000214.3(JAG1):c.2758A>T (p.Ile920Phe)	SNV Germline	Chr20:10641618	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Tetralogy of Fallot Charcot-Marie-Tooth disease, axonal, Type 2HH Alagille syndrome due to a JAG1 point mutation Deafness, congenital heart defects, and posterior embryotoxon	Criteria Provided Conflicting Classifications	CA408245035	rs_1252730791	2 SubmittersRCV001984616 RCV002492002
NM_000214.3(JAG1):c.3478G>A (p.Asp1160Asn)	SNV Germline	Chr20:10639677	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Condition: not provided Alagille syndrome due to a JAG1 point mutation Deafness, congenital heart defects, and posterior embryotoxon Tetralogy of Fallot Charcot-Marie-Tooth disease, axonal, Type 2HH Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9764204	rs_755047447	4 SubmittersRCV001977312 RCV003481232 RCV002497926 RCV005585040
NM_001458.5(FLNC):c.1453C>T (p.Gln485Ter)	SNV Germline	Chr7:128840064	Pathogenic	Tetralogy of Fallot	No Assertion Criteria Provided	CA369225552	rs_2536624682	1 SubmittersRCV003156715
NM_000214.3(JAG1):c.744A>T (p.Pro248=)	SNV Germline	Chr20:10656409	Conflicting classifications of pathogenicity	Tetralogy of Fallot Cardiovascular phenotype Alagille syndrome due to a JAG1 point mutation	Criteria Provided Conflicting Classifications	CA9765068	rs_10485741	3 SubmittersRCV002471661 RCV004631992 RCV005098453
NM_000214.3(JAG1):c.3313T>A (p.Ser1105Thr)	SNV Germline	Chr20:10639842	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Deafness, congenital heart defects, and posterior embryotoxon Tetralogy of Fallot Alagille syndrome due to a JAG1 point mutation Charcot-Marie-Tooth disease, axonal, Type 2HH	Criteria Provided Conflicting Classifications	CA9764226	rs_757600041	2 SubmittersRCV002613310 RCV005025897
NM_001379200.1(TBX1):c.1004C>T (p.Ala335Val)	SNV Germline	Chr22:19765970	Conflicting classifications of pathogenicity	DiGeorge syndrome Conotruncal heart malformations DiGeorge syndrome Tetralogy of Fallot Velocardiofacial syndrome	Criteria Provided Conflicting Classifications	CA410683875	rs_1936824289	2 SubmittersRCV002631818 RCV004725338
NM_001379200.1(TBX1):c.1342C>A (p.Pro448Thr)	SNV Germline	Chr22:19766694	Conflicting classifications of pathogenicity	DiGeorge syndrome Conotruncal heart malformations Velocardiofacial syndrome DiGeorge syndrome Tetralogy of Fallot	Criteria Provided Conflicting Classifications	CA410685064	rs_2145839048	2 SubmittersRCV002810902 RCV004725390
NM_000214.3(JAG1):c.506C>T (p.Thr169Met)	SNV Germline	Chr20:10658656	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation JAG1-related disorder Cardiovascular phenotype Tetralogy of Fallot Deafness, congenital heart defects, and posterior embryotoxon Alagille syndrome due to a JAG1 point mutation Charcot-Marie-Tooth disease, axonal, Type 2HH	Criteria Provided Conflicting Classifications	CA9765117	rs_745324562	4 SubmittersRCV002914086 RCV004548405 RCV004066257 RCV005034478
NM_000214.3(JAG1):c.2884A>G (p.Thr962Ala)	SNV Germline	Chr20:10641492	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Tetralogy of Fallot Alagille syndrome due to a JAG1 point mutation Deafness, congenital heart defects, and posterior embryotoxon Charcot-Marie-Tooth disease, axonal, Type 2HH	Criteria Provided Conflicting Classifications	CA9764373	rs_527420845	2 SubmittersRCV002962070 RCV005028068
NM_000214.3(JAG1):c.3577C>T (p.His1193Tyr)	SNV Germline	Chr20:10639578	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Alagille syndrome due to a JAG1 point mutation Deafness, congenital heart defects, and posterior embryotoxon Charcot-Marie-Tooth disease, axonal, Type 2HH Tetralogy of Fallot	Criteria Provided Conflicting Classifications	CA9764181	rs_775241983	2 SubmittersRCV002943694 RCV005028063
NM_001379200.1(TBX1):c.437+1G>C	SNV Unknown	Chr22:19761281	Likely pathogenic	DiGeorge syndrome Tetralogy of Fallot Velocardiofacial syndrome	Criteria Provided Single Submitter	CA410681870	rs_2517843174	1 SubmittersRCV003148069 RCV003148068 RCV003148070
NM_004387.4(NKX2-5):c.469T>G (p.Phe157Val)	SNV Germline	Chr5:173233075	Likely pathogenic	Tetralogy of Fallot	Criteria Provided Single Submitter	CA362161801	rs_2480073228	1 SubmittersRCV003315207
NM_012082.4(ZFPM2):c.1463T>C (p.Ile488Thr)	SNV Germline	Chr8:105801545	Conflicting classifications of pathogenicity	46,XY sex reversal 9 Inborn genetic diseases Diaphragmatic hernia 3 46,XY sex reversal 9 Tetralogy of Fallot	Criteria Provided Conflicting Classifications	CA4839755	rs_775854541	3 SubmittersRCV003749736 RCV004374339 RCV005392692
NM_000214.3(JAG1):c.2472C>A (p.Cys824Ter)	SNV Germline	Chr20:10642588	Pathogenic	Tetralogy of Fallot Alagille syndrome due to a JAG1 point mutation Charcot-Marie-Tooth disease, axonal, Type 2HH Deafness, congenital heart defects, and posterior embryotoxon	Criteria Provided Single Submitter			1 SubmittersRCV004795575
NM_005257.6(GATA6):c.1135+2T>C	SNV Germline	Chr18:22172281	Likely pathogenic	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome Atrioventricular septal defect 5 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome Atrioventricular septal defect 5 Atrial septal defect 9 Tetralogy of Fallot Conotruncal heart malformations	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005358184 RCV005026176
NM_005257.6(GATA6):c.1135+1G>A	SNV Germline	Chr18:22172280	Likely pathogenic	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome Atrioventricular septal defect 5 Atrial septal defect 9 Conotruncal heart malformations Tetralogy of Fallot	Criteria Provided Single Submitter			1 SubmittersRCV005412191

NM_012082.4(ZFPM2):c.2107A>C (p.Met703Leu)

SNV
Germline

Chr8:105802189

Conflicting classifications of pathogenicity

Diaphragmatic hernia 3
Double outlet right ventricle
46,XY sex reversal 3
Condition: not provided
46,XY sex reversal 9
not specified
46,XY sex reversal 9
Tetralogy of Fallot
Diaphragmatic hernia 3
ZFPM2-related disorder

Criteria Provided
Conflicting Classifications

CA117963

rs_121908603

10 SubmittersRCV000006504 RCV000032715 RCV001007705 RCV001529320 RCV000861889 RCV003330385 RCV005394128 RCV003914814

NM_000214.3(JAG1):c.550C>T (p.Arg184Cys)

SNV
Germline

Chr20:10658612

Pathogenic

Alagille syndrome due to a JAG1 point mutation
Condition: not provided
JAG1-related disorder
Charcot-Marie-Tooth disease, axonal, Type 2HH
Deafness, congenital heart defects, and posterior embryotoxon
Tetralogy of Fallot
Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Multiple Submitters
No Conflicts

CA254222

rs_121918350

7 SubmittersRCV000008058 RCV000729764 RCV004739294 RCV005031418

NM_000214.3(JAG1):c.821G>A (p.Gly274Asp)

SNV
Germline

Chr20:10652533

Likely pathogenic

Tetralogy of Fallot
Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA248605

rs_28939668

2 SubmittersRCV000008063 RCV000555146

NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys)

SNV
Germline

Chr5:173235011

Conflicting classifications of pathogenicity

Tetralogy of Fallot
Hypothyroidism, congenital, nongoitrous, 5
Aortic arch interruption
Hypoplastic left heart syndrome 2
not specified
Congenital heart disease
Cardiovascular phenotype
Atrial septal defect 7
Condition: not provided
Persistent truncus arteriosus

Criteria Provided
Conflicting Classifications

CA120055

rs_28936670

11 SubmittersRCV000009572 RCV000009573 RCV000023017 RCV000023019 RCV000037968 RCV000030339 RCV000619696 RCV000987632 RCV003311655 RCV004794326

NM_004387.4(NKX2-5):c.61G>C (p.Glu21Gln)

SNV
Germline

Chr5:173235023

Conflicting classifications of pathogenicity

Tetralogy of Fallot
Congenital heart disease
not specified
Condition: not provided
Cardiovascular phenotype
Atrial septal defect 7

Criteria Provided
Conflicting Classifications

CA214394

rs_104893904

10 SubmittersRCV000009574 RCV000030618 RCV000171013 RCV000514277 RCV000618034 RCV000987633

NM_001308093.3(GATA4):c.1276G>A (p.Asp426Asn)

SNV
Germline

Chr8:11758419

Conflicting classifications of pathogenicity

Atrial septal defect 2
Tetralogy of Fallot
Pulmonic stenosis
Tricuspid regurgitation
Pulmonary valve atresia
Inborn genetic diseases
not specified
Condition: not provided
Atrioventricular septal defect 4
GATA4-related disorder
Congenital heart disease
Ventricular septal defect 1
Atrioventricular septal defect 4
Testicular anomalies with or without congenital heart disease
Tetralogy of Fallot
Atrial septal defect 2

Criteria Provided
Conflicting Classifications

CA204708

rs_56208331

12 SubmittersRCV000009600 RCV000009601 RCV000626818 RCV000190715 RCV001794439 RCV000431077 RCV000988036 RCV004018606 RCV002470705 RCV005357100

NM_001308093.3(GATA4):c.487C>T (p.Pro163Ser)

SNV
Germline

Chr8:11708799

Conflicting classifications of pathogenicity

Atrioventricular septal defect 4
Tetralogy of Fallot
Ventricular septal defect 1
Condition: not provided
Testicular anomalies with or without congenital heart disease
Male infertility with azoospermia or oligozoospermia due to single gene mutation
Atrial septal defect 2
Atrioventricular septal defect 4
Ventricular septal defect 1
Tetralogy of Fallot
Testicular anomalies with or without congenital heart disease
Atrial septal defect 2
Atrioventricular septal defect 4
Ventricular septal defect 1

Criteria Provided
Conflicting Classifications

CA212669

rs_387906769

9 SubmittersRCV000023002 RCV000023004 RCV000023003 RCV001753426 RCV002470717 RCV003991569 RCV005051737 RCV005364887

NM_001308093.3(GATA4):c.1223C>A (p.Pro408Gln)

SNV
Germline

Chr8:11758366

Conflicting classifications of pathogenicity

Atrial septal defect 2
Ventricular septal defect 1
Atrioventricular septal defect 4
Tetralogy of Fallot
not specified
Condition: not provided
Testicular anomalies with or without congenital heart disease
46,XY sex reversal 3
Ventricular septal defect 1
Atrioventricular septal defect 4
Microcephaly

Criteria Provided
Conflicting Classifications

CA212683

rs_115099192

8 SubmittersRCV000490358 RCV000023008 RCV001195378 RCV001555802 RCV002272027 RCV001007695 RCV000030949 RCV000526826 RCV001252768

NM_005257.6(GATA6):c.592C>G (p.Leu198Val)

SNV
Germline

Chr18:22171736

Conflicting classifications of pathogenicity

Tetralogy of Fallot
Atrioventricular septal defect 5
Monogenic diabetes
Condition: not provided

Criteria Provided
Conflicting Classifications

CA248633

rs_387906814

5 SubmittersRCV000023129 RCV000650081 RCV001174441 RCV001588823

NM_005257.6(GATA6):c.551G>A (p.Ser184Asn)

SNV
Germline

Chr18:22171695

Conflicting classifications of pathogenicity

Atrial septal defect 9
Tetralogy of Fallot
Atrioventricular septal defect 5
Condition: not provided
Atrioventricular septal defect 5
Atrial septal defect 9
Tetralogy of Fallot
Conotruncal heart malformations
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome

Criteria Provided
Conflicting Classifications

CA129026

rs_387906816

6 SubmittersRCV000023131 RCV000023132 RCV000990075 RCV001847620 RCV005025078

NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile)

SNV
Germline

Chr8:105801714

Conflicting classifications of pathogenicity

Tetralogy of Fallot
46,XY sex reversal 9
Condition: not provided
not specified
Tetralogy of Fallot
Diaphragmatic hernia 3
46,XY sex reversal 9
ZFPM2-related disorder
46,XY sex reversal 3

Criteria Provided
Conflicting Classifications

CA170935

rs_187043152

12 SubmittersRCV000032716 RCV000144723 RCV000514546 RCV000455350 RCV005394189 RCV003974865 RCV001007702

NM_001308093.3(GATA4):c.825C>T (p.Cys275=)

SNV
Germline

Chr8:11750149

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Atrioventricular septal defect 4
Atrial septal defect 2
Tetralogy of Fallot
Ventricular septal defect 1
Primary dilated cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA133997

rs_55980825

12 SubmittersRCV000037324 RCV000249584 RCV000228063 RCV000577946 RCV000577944 RCV000578024 RCV000578059 RCV001529780

NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser)

SNV
Germline

Chr20:10648607

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Condition: not provided
Isolated Nonsyndromic Congenital Heart Disease
Alagille syndrome due to a JAG1 point mutation
Charcot-Marie-Tooth disease, axonal, Type 2HH
Deafness, congenital heart defects, and posterior embryotoxon
Tetralogy of Fallot

Criteria Provided
Conflicting Classifications

CA270004

rs_527236046

6 SubmittersRCV000132568 RCV000597619 RCV001138646 RCV002498649

NM_000214.3(JAG1):c.3308C>T (p.Thr1103Ile)

SNV
Germline

Chr20:10639847

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation
Charcot-Marie-Tooth disease, axonal, Type 2HH
Deafness, congenital heart defects, and posterior embryotoxon
Tetralogy of Fallot

Criteria Provided
Conflicting Classifications

CA242623

rs_781429347

5 SubmittersRCV000176613 RCV004992051 RCV002516710 RCV005025282

NM_000214.3(JAG1):c.2230C>T (p.Arg744Ter)

SNV
Germline

Chr20:10644977

Pathogenic

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
JAG1-related disorder
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot

Criteria Provided
Multiple Submitters
No Conflicts

CA321376

rs_863223655

9 SubmittersRCV000196949 RCV001038520 RCV004553068 RCV005025314

NM_004387.4(NKX2-5):c.443C>A (p.Ala148Glu)

SNV
Germline

Chr5:173233101

Likely pathogenic

Congenital heart disease
Tetralogy of Fallot

Criteria Provided
Single Submitter

CA279927

rs_864321649

2 SubmittersRCV000203525 RCV004813078

NM_017617.5(NOTCH1):c.578G>A (p.Gly193Asp)

SNV
Germline

Chr9:136523014

Pathogenic

Tetralogy of Fallot

No Assertion Criteria Provided

CA10602398

rs_774966208

1 SubmittersRCV000408653

NM_000214.3(JAG1):c.2666G>A (p.Arg889Gln)

SNV
Germline

Chr20:10641799

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Cardiovascular phenotype
Deafness, congenital heart defects, and posterior embryotoxon
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Charcot-Marie-Tooth disease, axonal, Type 2HH

Criteria Provided
Conflicting Classifications

CA9764423

rs_149419694

7 SubmittersRCV000220286 RCV000476409 RCV000765486 RCV002429080 RCV005396730

NM_000214.3(JAG1):c.2312A>G (p.Lys771Arg)

SNV
Germline

Chr20:10644895

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Charcot-Marie-Tooth disease, axonal, Type 2HH

Criteria Provided
Conflicting Classifications

CA9764558

rs_149949294

3 SubmittersRCV000223517 RCV001322306 RCV002485443

NM_000214.3(JAG1):c.860A>G (p.Asn287Ser)

SNV
Germline

Chr20:10652494

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Charcot-Marie-Tooth disease, axonal, Type 2HH
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9765038

rs_768317581

4 SubmittersRCV000213865 RCV001369966 RCV002485440 RCV002444870

NM_000214.3(JAG1):c.703C>T (p.Arg235Ter)

SNV
Germline

Chr20:10656450

Pathogenic

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Charcot-Marie-Tooth disease, axonal, Type 2HH
JAG1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10577624

rs_876660980

7 SubmittersRCV000218714 RCV000820770 RCV005025367 RCV004547565

NM_000214.3(JAG1):c.1195G>A (p.Val399Met)

SNV
Germline

Chr20:10650286

Conflicting classifications of pathogenicity

not specified
Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Tetralogy of Fallot
Charcot-Marie-Tooth disease, axonal, Type 2HH

Criteria Provided
Conflicting Classifications

CA9764957

rs_181970528

4 SubmittersRCV000244469 RCV001237017 RCV002338795 RCV005025398

NM_000214.3(JAG1):c.1395+3A>G

SNV
Germline

Chr20:10649058

Pathogenic

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot

Criteria Provided
Multiple Submitters
No Conflicts

CA10606495

rs_886044220

4 SubmittersRCV000320018 RCV001218520 RCV004021282

NM_000214.3(JAG1):c.2300C>T (p.Thr767Met)

SNV
Germline

Chr20:10644907

Conflicting classifications of pathogenicity

Isolated Nonsyndromic Congenital Heart Disease
Cardiovascular phenotype
Condition: not provided
Deafness, congenital heart defects, and posterior embryotoxon
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Charcot-Marie-Tooth disease, axonal, Type 2HH
Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Conflicting Classifications

CA9764562

rs_140330283

5 SubmittersRCV000357300 RCV000618450 RCV000730538 RCV002487494 RCV000645019

NM_000214.3(JAG1):c.756-14C>T

SNV
Germline

Chr20:10652612

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Isolated Nonsyndromic Congenital Heart Disease
Deafness, congenital heart defects, and posterior embryotoxon
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Charcot-Marie-Tooth disease, axonal, Type 2HH

Criteria Provided
Conflicting Classifications

CA9765048

rs_757351921

3 SubmittersRCV002057726 RCV000400703 RCV005027436

NM_005257.6(GATA6):c.1663C>G (p.Pro555Ala)

SNV
Germline

Chr18:22200698

Conflicting classifications of pathogenicity

Atrioventricular septal defect 5
Inborn genetic diseases
Conotruncal heart malformations
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Atrioventricular septal defect 5
Atrial septal defect 9
Tetralogy of Fallot
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8909066

rs_146243018

5 SubmittersRCV000470809 RCV002525630 RCV003224291 RCV001764455

NM_000214.3(JAG1):c.3467T>C (p.Val1156Ala)

SNV
Germline

Chr20:10639688

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Conotruncal heart malformations

Criteria Provided
Conflicting Classifications

CA9764206

rs_143966918

6 SubmittersRCV000730936 RCV000687251 RCV000765484 RCV005621953

NM_000214.3(JAG1):c.2827C>T (p.Pro943Ser)

SNV
Germline

Chr20:10641549

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9764386

rs_760332763

3 SubmittersRCV000533650 RCV002491063 RCV004024061

NM_001379200.1(TBX1):c.412G>A (p.Glu138Lys)

SNV
Germline

Chr22:19761255

Conflicting classifications of pathogenicity

Tetralogy of Fallot
DiGeorge syndrome

Criteria Provided
Conflicting Classifications

CA410681809

rs_1445910672

2 SubmittersRCV000578422 RCV000702287

NM_000214.3(JAG1):c.19C>T (p.Arg7Cys)

SNV
Germline

Chr20:10673512

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH
Tetralogy of Fallot
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA311357576

rs_563232654

5 SubmittersRCV000592427 RCV001039478 RCV002476291 RCV003160015

NM_000214.3(JAG1):c.521C>T (p.Thr174Met)

SNV
Germline

Chr20:10658641

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH
Tetralogy of Fallot

Criteria Provided
Conflicting Classifications

CA9765115

rs_144999773

4 SubmittersRCV000658070 RCV000697734 RCV002491201

NM_000214.3(JAG1):c.3652G>A (p.Val1218Ile)

SNV
Germline

Chr20:10639503

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH
Tetralogy of Fallot
JAG1-related disorder

Criteria Provided
Conflicting Classifications

CA9764165

rs_150295026

5 SubmittersRCV000596800 RCV001854061 RCV002456305 RCV002491208 RCV004553327

NM_000214.3(JAG1):c.3346C>T (p.Arg1116Trp)

SNV
Germline

Chr20:10639809

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
JAG1-related disorder
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH
Tetralogy of Fallot

Criteria Provided
Conflicting Classifications

CA9764218

rs_377723772

5 SubmittersRCV000598181 RCV000810621 RCV002325129 RCV004553329 RCV005034169

NM_000214.3(JAG1):c.2927C>T (p.Thr976Met)

SNV
Germline

Chr20:10641234

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Tetralogy of Fallot
Charcot-Marie-Tooth disease, axonal, Type 2HH
Cardiovascular phenotype
JAG1-related disorder

Criteria Provided
Conflicting Classifications

CA9764340

rs_751809412

7 SubmittersRCV000591569 RCV001482684 RCV005027711 RCV002438541 RCV004740358

NM_000214.3(JAG1):c.1308C>T (p.Cys436=)

SNV
Germline

Chr20:10649562

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Tetralogy of Fallot
Charcot-Marie-Tooth disease, axonal, Type 2HH

Criteria Provided
Conflicting Classifications

CA9764919

rs_764485729

5 SubmittersRCV000592331 RCV001345958 RCV004629251 RCV005027713

NM_000214.3(JAG1):c.2305G>A (p.Val769Ile)

SNV
Germline

Chr20:10644902

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH
Tetralogy of Fallot

Criteria Provided
Conflicting Classifications

CA9764559

rs_754301929

4 SubmittersRCV000591788 RCV002448839 RCV002532683 RCV005027717

NM_001379200.1(TBX1):c.1076G>A (p.Gly359Asp)

SNV
Germline

Chr22:19766428

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Conotruncal heart malformations
Velocardiofacial syndrome
DiGeorge syndrome
Tetralogy of Fallot
DiGeorge syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10102660

rs_781731042

7 SubmittersRCV000618252 RCV000765609 RCV000876712 RCV001574708 RCV003479173

NM_000214.3(JAG1):c.2429C>T (p.Pro810Leu)

SNV
Germline

Chr20:10643807

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Condition: not provided
Tetralogy of Fallot

Criteria Provided
Conflicting Classifications

CA9764505

rs_769531968

7 SubmittersRCV000626071 RCV000730482 RCV000755708

NM_000214.3(JAG1):c.1794C>G (p.Val598=)

SNV
Germline

Chr20:10647030

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Charcot-Marie-Tooth disease, axonal, Type 2HH
Deafness, congenital heart defects, and posterior embryotoxon

Criteria Provided
Conflicting Classifications

CA509661330

rs_200580391

2 SubmittersRCV000645028 RCV005034216

NM_000214.3(JAG1):c.3391G>A (p.Ala1131Thr)

SNV
Germline

Chr20:10639764

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon
JAG1-related disorder

Criteria Provided
Conflicting Classifications

CA9764212

rs_769242977

3 SubmittersRCV000645016 RCV000765485 RCV004547815

NM_000214.3(JAG1):c.1367G>A (p.Gly456Asp)

SNV
Germline

Chr20:10649089

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH

Criteria Provided
Conflicting Classifications

CA9764891

rs_534533867

3 SubmittersRCV000732141 RCV000694563 RCV002477575

NM_000214.3(JAG1):c.2350A>G (p.Asn784Asp)

SNV
Germline

Chr20:10644379

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
Tetralogy of Fallot
Charcot-Marie-Tooth disease, axonal, Type 2HH
Deafness, congenital heart defects, and posterior embryotoxon
Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Conflicting Classifications

CA9764529

rs_760470297

4 SubmittersRCV000728261 RCV001037675 RCV002442550 RCV005027897

NM_000214.3(JAG1):c.5G>T (p.Arg2Leu)

SNV
Germline

Chr20:10673526

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Charcot-Marie-Tooth disease, axonal, Type 2HH
Deafness, congenital heart defects, and posterior embryotoxon
Alagille syndrome due to a JAG1 point mutation
JAG1-related disorder

Criteria Provided
Conflicting Classifications

CA311357585

rs_1026004197

5 SubmittersRCV000729658 RCV001270881 RCV002499351 RCV004547925

NM_000214.3(JAG1):c.3638G>A (p.Arg1213Gln)

SNV
Germline

Chr20:10639517

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Charcot-Marie-Tooth disease, axonal, Type 2HH
Deafness, congenital heart defects, and posterior embryotoxon
Alagille syndrome due to a JAG1 point mutation
JAG1-related disorder

Criteria Provided
Conflicting Classifications

CA9764169

rs_138007561

5 SubmittersRCV000729669 RCV001226725 RCV002485869 RCV004740434

NM_000214.3(JAG1):c.1309G>A (p.Asp437Asn)

SNV
Germline

Chr20:10649561

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Charcot-Marie-Tooth disease, axonal, Type 2HH
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Tetralogy of Fallot
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9764918

rs_758876727

4 SubmittersRCV000730832 RCV001855645 RCV002493329 RCV005582417

NM_000214.3(JAG1):c.3524C>T (p.Ala1175Val)

SNV
Germline

Chr20:10639631

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH
JAG1-related disorder

Criteria Provided
Conflicting Classifications

CA311367334

rs_918046091

5 SubmittersRCV000733299 RCV001057425 RCV002458350 RCV005027915 RCV004547936

NM_000214.3(JAG1):c.2779G>A (p.Val927Ile)

SNV
Germline

Chr20:10641597

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH

Criteria Provided
Conflicting Classifications

CA9764395

rs_770415804

4 SubmittersRCV000734627 RCV002440583 RCV002536524 RCV005029400

NM_000214.3(JAG1):c.248A>G (p.Gln83Arg)

SNV
Germline

Chr20:10672840

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH
Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9765191

rs_376092818

4 SubmittersRCV000734693 RCV002485942 RCV003768246 RCV002424747

NM_000214.3(JAG1):c.3127G>A (p.Asp1043Asn)

SNV
Germline

Chr20:10640855

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA408244082

rs_1278689263

4 SubmittersRCV000734924 RCV001340733 RCV002493364 RCV004027097

NM_001379200.1(TBX1):c.1401C>G (p.Pro467=)

SNV
Germline

Chr22:19766753

Conflicting classifications of pathogenicity

Tetralogy of Fallot
DiGeorge syndrome
Cardiovascular phenotype
Conotruncal heart malformations
DiGeorge syndrome
Velocardiofacial syndrome
Tetralogy of Fallot

Criteria Provided
Conflicting Classifications

CA10102739

rs_753192876

4 SubmittersRCV000735273 RCV002535423 RCV002386310 RCV002493365

NM_001379200.1(TBX1):c.351C>T (p.Ala117=)

SNV
Germline

Chr22:19761194

Conflicting classifications of pathogenicity

DiGeorge syndrome
Conotruncal heart malformations
Velocardiofacial syndrome
Tetralogy of Fallot
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10102401

rs_757290764

2 SubmittersRCV000768330 RCV002325462

NM_001379200.1(TBX1):c.1178C>A (p.Pro393Gln)

SNV
Germline

Chr22:19766530

Conflicting classifications of pathogenicity

DiGeorge syndrome
Condition: not provided
Conotruncal heart malformations
DiGeorge syndrome
Tetralogy of Fallot
Velocardiofacial syndrome

Criteria Provided
Conflicting Classifications

CA322058209

rs_918788695

3 SubmittersRCV000983966 RCV003327473 RCV002488070

NM_000214.3(JAG1):c.3007G>A (p.Glu1003Lys)

SNV
Germline

Chr20:10641154

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH
Tetralogy of Fallot
JAG1-related disorder

Criteria Provided
Conflicting Classifications

CA9764325

rs_781509375

3 SubmittersRCV001047259 RCV002497386 RCV004553584

NM_000214.3(JAG1):c.2792C>T (p.Thr931Ile)

SNV
Germline

Chr20:10641584

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH
Tetralogy of Fallot

Criteria Provided
Conflicting Classifications

CA9764393

rs_368032094

2 SubmittersRCV001044255 RCV002481911

NM_000214.3(JAG1):c.1115C>T (p.Ser372Phe)

SNV
Germline

Chr20:10651586

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
JAG1-related disorder
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Tetralogy of Fallot
Charcot-Marie-Tooth disease, axonal, Type 2HH
not specified

Criteria Provided
Conflicting Classifications

CA9764979

rs_772669312

5 SubmittersRCV001053508 RCV002436610 RCV004553593 RCV005036347 RCV005436971

NM_000214.3(JAG1):c.3385C>A (p.His1129Asn)

SNV
Germline

Chr20:10639770

Conflicting classifications of pathogenicity

Isolated Nonsyndromic Congenital Heart Disease
Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Tetralogy of Fallot
Charcot-Marie-Tooth disease, axonal, Type 2HH

Criteria Provided
Conflicting Classifications

CA9764215

rs_768642155

3 SubmittersRCV001142857 RCV001201469 RCV005029713

NM_000214.3(JAG1):c.74G>A (p.Arg25Gln)

SNV
Germline

Chr20:10673457

Conflicting classifications of pathogenicity

Isolated Nonsyndromic Congenital Heart Disease
Alagille syndrome due to a JAG1 point mutation
not specified
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Tetralogy of Fallot
Charcot-Marie-Tooth disease, axonal, Type 2HH

Criteria Provided
Conflicting Classifications

CA408244062

rs_1265642949

4 SubmittersRCV001138324 RCV001318229 RCV003987786 RCV005029705

NM_000214.3(JAG1):c.3506G>A (p.Arg1169Gln)

SNV
Germline

Chr20:10639649

Conflicting classifications of pathogenicity

Scoliosis
Pes planus
Aortic dilatation
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Charcot-Marie-Tooth disease, axonal, Type 2HH
Deafness, congenital heart defects, and posterior embryotoxon
Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA408242700

rs_1268561604

4 SubmittersRCV001200019 RCV002484072 RCV003770226 RCV003284036

NM_000214.3(JAG1):c.1205C>G (p.Pro402Arg)

SNV
Germline

Chr20:10650276

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Charcot-Marie-Tooth disease, axonal, Type 2HH
Deafness, congenital heart defects, and posterior embryotoxon
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9764954

rs_144204614

3 SubmittersRCV001217867 RCV002491678 RCV005348363

NM_000214.3(JAG1):c.3523G>A (p.Ala1175Thr)

SNV
Germline

Chr20:10639632

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH

Criteria Provided
Conflicting Classifications

CA9764196

rs_769685858

3 SubmittersRCV001207078 RCV004695167 RCV005036461

NM_000214.3(JAG1):c.3065G>A (p.Arg1022Gln)

SNV
Germline

Chr20:10640917

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH
Tetralogy of Fallot
Alagille syndrome due to a JAG1 point mutation
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9764291

rs_376089631

3 SubmittersRCV001203477 RCV002484096 RCV004768910

NM_000214.3(JAG1):c.1835A>G (p.Lys612Arg)

SNV
Germline

Chr20:10646989

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH
JAG1-related disorder

Criteria Provided
Conflicting Classifications

CA9764741

rs_750855317

4 SubmittersRCV001209633 RCV002411771 RCV002484135 RCV004548060

NM_001379200.1(TBX1):c.823G>A (p.Glu275Lys)

SNV
Germline

Chr22:19765069

Conflicting classifications of pathogenicity

DiGeorge syndrome
Velocardiofacial syndrome
Tetralogy of Fallot
Conotruncal heart malformations
DiGeorge syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10102563

rs_144848597

3 SubmittersRCV001202887 RCV002069302 RCV001570784

NM_000214.3(JAG1):c.3260C>T (p.Thr1087Met)

SNV
Germline

Chr20:10639895

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH
Tetralogy of Fallot

Criteria Provided
Conflicting Classifications

CA9764241

rs_763164530

3 SubmittersRCV001234479 RCV002322124 RCV005029807

NM_000214.3(JAG1):c.2615A>G (p.Asp872Gly)

SNV
Germline

Chr20:10641850

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon
Alagille syndrome due to a JAG1 point mutation
Charcot-Marie-Tooth disease, axonal, Type 2HH

Criteria Provided
Conflicting Classifications

CA9764435

rs_111706668

2 SubmittersRCV001246770 RCV002480844

NM_000214.3(JAG1):c.2609T>C (p.Ile870Thr)

SNV
Germline

Chr20:10641856

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
Alagille syndrome due to a JAG1 point mutation
Charcot-Marie-Tooth disease, axonal, Type 2HH
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon

Criteria Provided
Conflicting Classifications

CA408245370

rs_1386302689

3 SubmittersRCV001242041 RCV005367789 RCV005036524

NM_001379200.1(TBX1):c.503T>C (p.Leu168Pro)

SNV
Germline

Chr22:19763306

Likely pathogenic

Tetralogy of Fallot
Velocardiofacial syndrome
DiGeorge syndrome

Criteria Provided
Single Submitter

CA410682299

rs_1936727304

1 SubmittersRCV001249619

NM_005257.6(GATA6):c.23G>A (p.Trp8Ter)

SNV
Unknown

Chr18:22171167

Pathogenic

Tetralogy of Fallot

Criteria Provided
Single Submitter

CA401798306

rs_2033033528

1 SubmittersRCV001255705

NM_002941.4(ROBO1):c.928C>T (p.Arg310Ter)

SNV
Germline

Chr3:78714514

Pathogenic/Likely pathogenic

Tetralogy of Fallot
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA353662449

rs_1431830142

3 SubmittersRCV001290235 RCV001760327

NM_002941.4(ROBO1):c.355C>T (p.Arg119Ter)

SNV
Germline

Chr3:78938745

Likely pathogenic

Tetralogy of Fallot
Neurooculorenal syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA77706949

rs_1017845770

2 SubmittersRCV001290239 RCV004820872

NM_005257.6(GATA6):c.660C>T (p.Gly220=)

SNV
Germline

Chr18:22171804

Conflicting classifications of pathogenicity

Atrioventricular septal defect 5
Conotruncal heart malformations
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Atrioventricular septal defect 5
Atrial septal defect 9
Tetralogy of Fallot

Criteria Provided
Conflicting Classifications

CA503529190

rs_1385756157

2 SubmittersRCV001295856 RCV002493554

NM_000214.3(JAG1):c.2911T>C (p.Ser971Pro)

SNV
Germline

Chr20:10641465

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
JAG1-related disorder
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH
Tetralogy of Fallot

Criteria Provided
Conflicting Classifications

CA9764369

rs_750570683

3 SubmittersRCV001301911 RCV004740660 RCV002486162

NM_000214.3(JAG1):c.2828C>T (p.Pro943Leu)

SNV
Germline

Chr20:10641548

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH
Alagille syndrome due to a JAG1 point mutation
JAG1-related disorder

Criteria Provided
Conflicting Classifications

CA9764385

rs_767826365

4 SubmittersRCV001309210 RCV002437057 RCV002476429 RCV004740663

NM_000214.3(JAG1):c.1465G>A (p.Asp489Asn)

SNV
Germline

Chr20:10648653

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Charcot-Marie-Tooth disease, axonal, Type 2HH
Deafness, congenital heart defects, and posterior embryotoxon

Criteria Provided
Conflicting Classifications

CA9764837

rs_370107709

3 SubmittersRCV001317558 RCV002395679 RCV002476481

NM_000214.3(JAG1):c.3329A>G (p.Asn1110Ser)

SNV
Germline

Chr20:10639826

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
Charcot-Marie-Tooth disease, axonal, Type 2HH
Tetralogy of Fallot
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA9764223

rs_150811951

4 SubmittersRCV001351919 RCV002322306 RCV002486458 RCV004815441

NM_000214.3(JAG1):c.1444G>A (p.Asp482Asn)

SNV
Germline

Chr20:10648674

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9764841

rs_766370717

4 SubmittersRCV001347805 RCV002469378 RCV005023070 RCV003294367

NM_000214.3(JAG1):c.1321G>A (p.Gly441Ser)

SNV
Germline

Chr20:10649549

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Charcot-Marie-Tooth disease, axonal, Type 2HH
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon

Criteria Provided
Conflicting Classifications

CA408238147

rs_1327002160

4 SubmittersRCV001349261 RCV002384487 RCV003130490 RCV005023075

NM_000214.3(JAG1):c.978G>A (p.Glu326=)

SNV
Germline

Chr20:10652159

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Charcot-Marie-Tooth disease, axonal, Type 2HH
Tetralogy of Fallot
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA509661857

rs_1480738447

3 SubmittersRCV001351249 RCV002499704 RCV004629597

NM_000214.3(JAG1):c.349C>G (p.Arg117Gly)

SNV
Germline

Chr20:10672739

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation
Charcot-Marie-Tooth disease, axonal, Type 2HH
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9765176

rs_752608779

4 SubmittersRCV001341202 RCV002499675 RCV004720863 RCV005582709

NM_000214.3(JAG1):c.3562G>A (p.Gly1188Ser)

SNV
Germline

Chr20:10639593

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon
Alagille syndrome due to a JAG1 point mutation
Charcot-Marie-Tooth disease, axonal, Type 2HH
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA311367274

rs_1051571820

3 SubmittersRCV001359315 RCV002486499 RCV004034526

NM_000214.3(JAG1):c.3398C>T (p.Thr1133Met)

SNV
Germline

Chr20:10639757

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH
Tetralogy of Fallot
JAG1-related disorder

Criteria Provided
Conflicting Classifications

CA9764211

rs_373260040

3 SubmittersRCV001372709 RCV002493898 RCV004550092

NM_000214.3(JAG1):c.2701C>A (p.Pro901Thr)

SNV
Germline

Chr20:10641675

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Tetralogy of Fallot
Charcot-Marie-Tooth disease, axonal, Type 2HH
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9764410

rs_372904306

3 SubmittersRCV001369546 RCV002493884 RCV003169894

NM_000214.3(JAG1):c.2715C>T (p.His905=)

SNV
Germline

Chr20:10641661

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Tetralogy of Fallot
Charcot-Marie-Tooth disease, axonal, Type 2HH

Criteria Provided
Conflicting Classifications

CA509816147

rs_2122596864

2 SubmittersRCV001422254 RCV005038219

NM_001379200.1(TBX1):c.941G>A (p.Arg314Gln)

SNV
Germline

Chr22:19765907

Conflicting classifications of pathogenicity

DiGeorge syndrome
Conotruncal heart malformations
Velocardiofacial syndrome
DiGeorge syndrome
Tetralogy of Fallot
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10102637

rs_555522870

4 SubmittersRCV001442626 RCV002495621 RCV004704557

NM_000214.3(JAG1):c.2497G>A (p.Ala833Thr)

SNV
Germline

Chr20:10642563

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
Tetralogy of Fallot
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH

Criteria Provided
Conflicting Classifications

CA9764483

rs_574205422

3 SubmittersRCV001487548 RCV002432367 RCV002495730

NM_000214.3(JAG1):c.2113+1G>A

SNV
Germline

Chr20:10645355

Likely pathogenic

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Charcot-Marie-Tooth disease, axonal, Type 2HH
Deafness, congenital heart defects, and posterior embryotoxon
Arteriohepatic dysplasia
Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Multiple Submitters
No Conflicts

CA408235374

rs_1294950721

4 SubmittersRCV001799920 RCV005038328 RCV005414339 RCV003330100

NM_000214.3(JAG1):c.3542G>A (p.Arg1181Lys)

SNV
Germline

Chr20:10639613

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon
Alagille syndrome due to a JAG1 point mutation
Charcot-Marie-Tooth disease, axonal, Type 2HH
Cardiovascular phenotype
JAG1-related disorder

Criteria Provided
Conflicting Classifications

CA9764191

rs_758788135

4 SubmittersRCV001989225 RCV002479705 RCV003170463 RCV004553615

NM_000214.3(JAG1):c.1270G>A (p.Ala424Thr)

SNV
Germline

Chr20:10649600

Conflicting classifications of pathogenicity

Tetralogy of Fallot
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH
Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Conflicting Classifications

CA9764924

rs_755648887

2 SubmittersRCV002506897 RCV001864130

NM_000214.3(JAG1):c.3307A>G (p.Thr1103Ala)

SNV
Germline

Chr20:10639848

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
Alagille syndrome due to a JAG1 point mutation
Charcot-Marie-Tooth disease, axonal, Type 2HH
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon

Criteria Provided
Conflicting Classifications

CA9764227

rs_750032058

3 SubmittersRCV001872676 RCV002458692 RCV005397088

NM_000214.3(JAG1):c.316A>G (p.Thr106Ala)

SNV
Germline

Chr20:10672772

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH

Criteria Provided
Conflicting Classifications

CA311357318

rs_909905245

3 SubmittersRCV002324391 RCV001992501 RCV002479548

NM_000214.3(JAG1):c.3505C>G (p.Arg1169Gly)

SNV
Germline

Chr20:10639650

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH

Criteria Provided
Conflicting Classifications

CA9764200

rs_368162343

2 SubmittersRCV001982731 RCV005025481

NM_000214.3(JAG1):c.3017C>T (p.Pro1006Leu)

SNV
Germline

Chr20:10641144

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
See cases
Deafness, congenital heart defects, and posterior embryotoxon
Tetralogy of Fallot
Alagille syndrome due to a JAG1 point mutation
Charcot-Marie-Tooth disease, axonal, Type 2HH
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9764323

rs_747142039

4 SubmittersRCV001981850 RCV004584452 RCV002484630 RCV005428446

NM_000214.3(JAG1):c.3098A>G (p.Asp1033Gly)

SNV
Germline

Chr20:10640884

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Tetralogy of Fallot
Charcot-Marie-Tooth disease, axonal, Type 2HH

Criteria Provided
Conflicting Classifications

CA9764280

rs_748220102

2 SubmittersRCV001915145 RCV005038465

NM_000214.3(JAG1):c.425G>A (p.Ser142Asn)

SNV
Germline

Chr20:10663977

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation
Charcot-Marie-Tooth disease, axonal, Type 2HH
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon

Criteria Provided
Conflicting Classifications

CA408242104

rs_1436395839

2 SubmittersRCV002043128 RCV005025642

NM_000214.3(JAG1):c.3109G>A (p.Asp1037Asn)

SNV
Germline

Chr20:10640873

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation
Charcot-Marie-Tooth disease, axonal, Type 2HH
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon

Criteria Provided
Conflicting Classifications

CA9764278

rs_768823146

2 SubmittersRCV002026088 RCV002486707

NM_000214.3(JAG1):c.1329G>A (p.Met443Ile)

SNV
Germline

Chr20:10649541

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Tetralogy of Fallot
Alagille syndrome due to a JAG1 point mutation
Charcot-Marie-Tooth disease, axonal, Type 2HH

Criteria Provided
Conflicting Classifications

CA9764916

rs_547676061

2 SubmittersRCV002008937 RCV002497970

NM_000214.3(JAG1):c.2307C>T (p.Val769=)

SNV
Germline

Chr20:10644900

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
JAG1-related disorder
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH

Criteria Provided
Conflicting Classifications

CA311345329

rs_1009422076

3 SubmittersRCV001910914 RCV004741129 RCV005023382

NM_000214.3(JAG1):c.2758A>T (p.Ile920Phe)

SNV
Germline

Chr20:10641618

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Charcot-Marie-Tooth disease, axonal, Type 2HH
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon

Criteria Provided
Conflicting Classifications

CA408245035

rs_1252730791

2 SubmittersRCV001984616 RCV002492002

NM_000214.3(JAG1):c.3478G>A (p.Asp1160Asn)

SNV
Germline

Chr20:10639677

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Tetralogy of Fallot
Charcot-Marie-Tooth disease, axonal, Type 2HH
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9764204

rs_755047447

4 SubmittersRCV001977312 RCV003481232 RCV002497926 RCV005585040

NM_001458.5(FLNC):c.1453C>T (p.Gln485Ter)

SNV
Germline

Chr7:128840064

Pathogenic

Tetralogy of Fallot

No Assertion Criteria Provided

CA369225552

rs_2536624682

1 SubmittersRCV003156715

NM_000214.3(JAG1):c.744A>T (p.Pro248=)

SNV
Germline

Chr20:10656409

Conflicting classifications of pathogenicity

Tetralogy of Fallot
Cardiovascular phenotype
Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Conflicting Classifications

CA9765068

rs_10485741

3 SubmittersRCV002471661 RCV004631992 RCV005098453

NM_000214.3(JAG1):c.3313T>A (p.Ser1105Thr)

SNV
Germline

Chr20:10639842

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Tetralogy of Fallot
Alagille syndrome due to a JAG1 point mutation
Charcot-Marie-Tooth disease, axonal, Type 2HH

Criteria Provided
Conflicting Classifications

CA9764226

rs_757600041

2 SubmittersRCV002613310 RCV005025897

NM_001379200.1(TBX1):c.1004C>T (p.Ala335Val)

SNV
Germline

Chr22:19765970

Conflicting classifications of pathogenicity

DiGeorge syndrome
Conotruncal heart malformations
DiGeorge syndrome
Tetralogy of Fallot
Velocardiofacial syndrome

Criteria Provided
Conflicting Classifications

CA410683875

rs_1936824289

2 SubmittersRCV002631818 RCV004725338

NM_001379200.1(TBX1):c.1342C>A (p.Pro448Thr)

SNV
Germline

Chr22:19766694

Conflicting classifications of pathogenicity

DiGeorge syndrome
Conotruncal heart malformations
Velocardiofacial syndrome
DiGeorge syndrome
Tetralogy of Fallot

Criteria Provided
Conflicting Classifications

CA410685064

rs_2145839048

2 SubmittersRCV002810902 RCV004725390

NM_000214.3(JAG1):c.506C>T (p.Thr169Met)

SNV
Germline

Chr20:10658656

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
JAG1-related disorder
Cardiovascular phenotype
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon
Alagille syndrome due to a JAG1 point mutation
Charcot-Marie-Tooth disease, axonal, Type 2HH

Criteria Provided
Conflicting Classifications

CA9765117

rs_745324562

4 SubmittersRCV002914086 RCV004548405 RCV004066257 RCV005034478

NM_000214.3(JAG1):c.2884A>G (p.Thr962Ala)

SNV
Germline

Chr20:10641492

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH

Criteria Provided
Conflicting Classifications

CA9764373

rs_527420845

2 SubmittersRCV002962070 RCV005028068

NM_000214.3(JAG1):c.3577C>T (p.His1193Tyr)

SNV
Germline

Chr20:10639578

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH
Tetralogy of Fallot

Criteria Provided
Conflicting Classifications

CA9764181

rs_775241983

2 SubmittersRCV002943694 RCV005028063

NM_001379200.1(TBX1):c.437+1G>C

SNV
Unknown

Chr22:19761281

Likely pathogenic

DiGeorge syndrome
Tetralogy of Fallot
Velocardiofacial syndrome

Criteria Provided
Single Submitter

CA410681870

rs_2517843174

1 SubmittersRCV003148069 RCV003148068 RCV003148070

NM_004387.4(NKX2-5):c.469T>G (p.Phe157Val)

SNV
Germline

Chr5:173233075

Likely pathogenic

Tetralogy of Fallot

Criteria Provided
Single Submitter

CA362161801

rs_2480073228

1 SubmittersRCV003315207

NM_012082.4(ZFPM2):c.1463T>C (p.Ile488Thr)

SNV
Germline

Chr8:105801545

Conflicting classifications of pathogenicity

46,XY sex reversal 9
Inborn genetic diseases
Diaphragmatic hernia 3
46,XY sex reversal 9
Tetralogy of Fallot

Criteria Provided
Conflicting Classifications

CA4839755

rs_775854541

3 SubmittersRCV003749736 RCV004374339 RCV005392692

NM_000214.3(JAG1):c.2472C>A (p.Cys824Ter)

SNV
Germline

Chr20:10642588

Pathogenic

Tetralogy of Fallot
Alagille syndrome due to a JAG1 point mutation
Charcot-Marie-Tooth disease, axonal, Type 2HH
Deafness, congenital heart defects, and posterior embryotoxon

Criteria Provided
Single Submitter

1 SubmittersRCV004795575

NM_005257.6(GATA6):c.1135+2T>C

SNV
Germline

Chr18:22172281

Likely pathogenic

Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Atrioventricular septal defect 5
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Atrioventricular septal defect 5
Atrial septal defect 9
Tetralogy of Fallot
Conotruncal heart malformations

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005358184 RCV005026176

NM_005257.6(GATA6):c.1135+1G>A

SNV
Germline

Chr18:22172280

Likely pathogenic

Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Atrioventricular septal defect 5
Atrial septal defect 9
Conotruncal heart malformations
Tetralogy of Fallot

Criteria Provided
Single Submitter

1 SubmittersRCV005412191