Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000214.3(JAG1):c.551G>A (p.Arg184His)	SNV Germline	Chr20:10658611	Pathogenic	Alagille syndrome due to a JAG1 point mutation Condition: not provided 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	Criteria Provided Multiple Submitters No Conflicts	CA254223	rs_121918351	7 SubmittersRCV000008059 RCV000725979 RCV002476943
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 Truncus arteriosus Hypoplastic left heart syndrome 2 Congenital heart disease Aortic arch interruption not specified Cardiovascular phenotype Atrial septal defect 7 Condition: not provided	Criteria Provided Conflicting Classifications	CA120055	rs_28936670	10 SubmittersRCV000009572 RCV000009573 RCV000023018 RCV000023019 RCV000030339 RCV000023017 RCV000037968 RCV000619696 RCV000987632 RCV003311655
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	9 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 Inborn genetic diseases Condition: not provided Atrioventricular septal defect 4 Pulmonic stenosis Pulmonary valve atresia Tricuspid regurgitation Congenital heart disease not specified GATA4-related disorder	Criteria Provided Conflicting Classifications	CA204708	rs_56208331	11 SubmittersRCV000009600 RCV000009601 RCV000190715 RCV000431077 RCV000988036 RCV000626818 RCV002470705 RCV001794439 RCV004018606
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 Testicular anomalies with or without congenital heart disease Male infertility with azoospermia or oligozoospermia due to single gene mutation Condition: not provided	Criteria Provided Conflicting Classifications	CA212669	rs_387906769	7 SubmittersRCV000023002 RCV000023004 RCV000023003 RCV002470717 RCV003991569 RCV001753426
NM_001308093.3(GATA4):c.1223C>A (p.Pro408Gln)	SNV Germline	Chr8:11758366	Conflicting classifications of pathogenicity	Tetralogy of Fallot Ventricular septal defect 1 Atrial septal defect 2 Ventricular septal defect 1 Atrioventricular septal defect 4 Atrioventricular septal defect 4 46,XY sex reversal 3 not specified Microcephaly Condition: not provided Testicular anomalies with or without congenital heart disease	Criteria Provided Conflicting Classifications	CA212683	rs_115099192	8 SubmittersRCV000023008 RCV000030949 RCV000490358 RCV000526826 RCV001007695 RCV001195378 RCV001252768 RCV001555802 RCV002272027
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_012082.4(ZFPM2):c.1632G>A (p.Met544Ile)	SNV Germline	Chr8:105801714	Conflicting classifications of pathogenicity	Tetralogy of Fallot 46,XY sex reversal 9 not specified Condition: not provided 46,XY sex reversal 3 ZFPM2-related disorder	Criteria Provided Conflicting Classifications	CA170935	rs_187043152	10 SubmittersRCV000032716 RCV000144723 RCV000455350 RCV000514546 RCV001007702 RCV003974865
NM_001308093.3(GATA4):c.825C>T (p.Cys275=)	SNV Germline	Chr8:11750149	Conflicting classifications of pathogenicity	not specified Atrioventricular septal defect 4 Cardiovascular phenotype Ventricular septal defect 1 Atrial septal defect 2 Primary dilated cardiomyopathy Tetralogy of Fallot Condition: not provided	Criteria Provided Conflicting Classifications	CA133997	rs_55980825	12 SubmittersRCV000037324 RCV000228063 RCV000249584 RCV000578024 RCV000577946 RCV000578059 RCV000577944 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 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	Criteria Provided Conflicting Classifications	CA270004	rs_527236046	6 SubmittersRCV000132568 RCV000597619 RCV001138646 RCV002498649
NM_004444.5(EPHB4):c.980C>T (p.Pro327Leu)	SNV Germline	Chr7:100819874	Likely pathogenic	Tetralogy of Fallot	No Assertion Criteria Provided	CA10602395	rs_1057515420	1 SubmittersRCV000408650
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 Alagille syndrome due to a JAG1 point mutation Tetralogy of Fallot Deafness, congenital heart defects, and posterior embryotoxon Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9764423	rs_149419694	6 SubmittersRCV000220286 RCV000476409 RCV000765486 RCV002429080
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 Tetralogy of Fallot Charcot-Marie-Tooth disease, axonal, Type 2HH Alagille syndrome due to a JAG1 point mutation	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 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	Criteria Provided Conflicting Classifications	CA9765038	rs_768317581	4 SubmittersRCV000213865 RCV001369966 RCV002444870 RCV002485440
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 Condition: not provided Cardiovascular phenotype Alagille syndrome due to a JAG1 point mutation Deafness, congenital heart defects, and posterior embryotoxon Alagille syndrome due to a JAG1 point mutation Charcot-Marie-Tooth disease, axonal, Type 2HH Tetralogy of Fallot	Criteria Provided Conflicting Classifications	CA9764562	rs_140330283	5 SubmittersRCV000357300 RCV000730538 RCV000618450 RCV000645019 RCV002487494
NM_001018005.2(TPM1):c.114+2T>C	SNV Not applicable	Chr15:63042945	Likely pathogenic	Tetralogy of Fallot	No Assertion Criteria Provided	CA392718181	rs_1114167357	1 SubmittersRCV000491976
NM_005257.6(GATA6):c.1663C>G (p.Pro555Ala)	SNV Germline	Chr18:22200698	Conflicting classifications of pathogenicity	Atrioventricular septal defect 5 Condition: not provided Conotruncal heart malformations Atrioventricular septal defect 5 Atrial septal defect 9 Tetralogy of Fallot Pancreatic hypoplasia-diabetes-congenital heart disease syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8909066	rs_146243018	4 SubmittersRCV000470809 RCV001764455 RCV003224291 RCV002525630
NM_000214.3(JAG1):c.3467T>C (p.Val1156Ala)	SNV Germline	Chr20:10639688	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 Condition: not provided	Criteria Provided Conflicting Classifications	CA9764206	rs_143966918	5 SubmittersRCV000687251 RCV000765484 RCV000730936
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 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	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 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	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 Tetralogy of Fallot Charcot-Marie-Tooth disease, axonal, Type 2HH Deafness, congenital heart defects, and posterior embryotoxon	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 Charcot-Marie-Tooth disease, axonal, Type 2HH 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	CA9764165	rs_150295026	5 SubmittersRCV000596800 RCV001854061 RCV002456305 RCV002491208 RCV004553327
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	6 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.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 Deafness, congenital heart defects, and posterior embryotoxon Tetralogy of Fallot 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 Charcot-Marie-Tooth disease, axonal, Type 2HH Tetralogy of Fallot Deafness, congenital heart defects, and posterior embryotoxon	Criteria Provided Conflicting Classifications		rs_534533867	3 SubmittersRCV000732141 RCV000694563 RCV002477575
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 Deafness, congenital heart defects, and posterior embryotoxon Alagille syndrome due to a JAG1 point mutation Charcot-Marie-Tooth disease, axonal, Type 2HH JAG1-related disorder	Criteria Provided Conflicting Classifications		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 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		rs_138007561	4 SubmittersRCV000729669 RCV001226725 RCV002485869
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 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		rs_758876727	3 SubmittersRCV000730832 RCV001855645 RCV002493329
NM_000214.3(JAG1):c.248A>G (p.Gln83Arg)	SNV Germline	Chr20:10672840	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease, axonal, Type 2HH Deafness, congenital heart defects, and posterior embryotoxon Alagille syndrome due to a JAG1 point mutation Tetralogy of Fallot Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype	Criteria Provided Conflicting Classifications		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		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 DiGeorge syndrome Conotruncal heart malformations Velocardiofacial syndrome Tetralogy of Fallot Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_753192876	4 SubmittersRCV000735273 RCV002535423 RCV002493365 RCV002386310
NM_001379200.1(TBX1):c.351C>T (p.Ala117=)	SNV Germline	Chr22:19761194	Conflicting classifications of pathogenicity	Tetralogy of Fallot DiGeorge syndrome Conotruncal heart malformations Velocardiofacial syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		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		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		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 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	Criteria Provided Conflicting Classifications		rs_368032094	2 SubmittersRCV001044255 RCV002481911
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 Deafness, congenital heart defects, and posterior embryotoxon Tetralogy of Fallot Charcot-Marie-Tooth disease, axonal, Type 2HH Cardiovascular phenotype Alagille syndrome due to a JAG1 point mutation	Criteria Provided Conflicting Classifications		rs_1268561604	4 SubmittersRCV001200019 RCV002484072 RCV003284036 RCV003770226
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 Deafness, congenital heart defects, and posterior embryotoxon Charcot-Marie-Tooth disease, axonal, Type 2HH Tetralogy of Fallot	Criteria Provided Conflicting Classifications		rs_144204614	2 SubmittersRCV001217867 RCV002491678
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 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		rs_376089631	2 SubmittersRCV001203477 RCV002484096
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 Deafness, congenital heart defects, and posterior embryotoxon Charcot-Marie-Tooth disease, axonal, Type 2HH Tetralogy of Fallot JAG1-related disorder	Criteria Provided Conflicting Classifications		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 DiGeorge syndrome Conotruncal heart malformations Velocardiofacial syndrome Tetralogy of Fallot Condition: not provided	Criteria Provided Conflicting Classifications		rs_144848597	3 SubmittersRCV001202887 RCV002069302 RCV001570784
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 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 Conflicting Classifications		rs_111706668	2 SubmittersRCV001246770 RCV002480844
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		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		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		rs_1431830142	3 SubmittersRCV001290235 RCV001760327
NM_002941.4(ROBO1):c.355C>T (p.Arg119Ter)	SNV Germline	Chr3:78938745	Likely pathogenic	Tetralogy of Fallot	Criteria Provided Single Submitter		rs_1017845770	1 SubmittersRCV001290239
NM_005257.6(GATA6):c.660C>T (p.Gly220=)	SNV Germline	Chr18:22171804	Conflicting classifications of pathogenicity	Atrioventricular septal defect 5 Conotruncal heart malformations Atrioventricular septal defect 5 Atrial septal defect 9 Tetralogy of Fallot Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	Criteria Provided Conflicting Classifications		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 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		rs_750570683	2 SubmittersRCV001301911 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 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		rs_767826365	3 SubmittersRCV001309210 RCV002437057 RCV002476429
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 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		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 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		rs_150811951	3 SubmittersRCV001351919 RCV002322306 RCV002486458
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 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		rs_1480738447	2 SubmittersRCV001351249 RCV002499704
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	Criteria Provided Conflicting Classifications		rs_752608779	2 SubmittersRCV001341202 RCV002499675
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 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		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 Tetralogy of Fallot Deafness, congenital heart defects, and posterior embryotoxon Charcot-Marie-Tooth disease, axonal, Type 2HH JAG1-related disorder	Criteria Provided Conflicting Classifications		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 Tetralogy of Fallot Deafness, congenital heart defects, and posterior embryotoxon Charcot-Marie-Tooth disease, axonal, Type 2HH Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_372904306	3 SubmittersRCV001369546 RCV002493884 RCV003169894
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 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		rs_574205422	3 SubmittersRCV001487548 RCV002432367 RCV002495730
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		rs_758788135	4 SubmittersRCV001989225 RCV002479705 RCV003170463 RCV004553615
NM_000214.3(JAG1):c.1270G>A (p.Ala424Thr)	SNV Germline	Chr20:10649600	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		rs_755648887	2 SubmittersRCV001864130 RCV002506897
NM_000214.3(JAG1):c.316A>G (p.Thr106Ala)	SNV Germline	Chr20:10672772	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype Charcot-Marie-Tooth disease, axonal, Type 2HH Alagille syndrome due to a JAG1 point mutation Tetralogy of Fallot Deafness, congenital heart defects, and posterior embryotoxon	Criteria Provided Conflicting Classifications		rs_909905245	3 SubmittersRCV001992501 RCV002324391 RCV002479548
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 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 See cases	Criteria Provided Conflicting Classifications		rs_747142039	3 SubmittersRCV001981850 RCV002484630 RCV004584452
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 Charcot-Marie-Tooth disease, axonal, Type 2HH Deafness, congenital heart defects, and posterior embryotoxon Alagille syndrome due to a JAG1 point mutation Tetralogy of Fallot	Criteria Provided Conflicting Classifications		rs_768823146	2 SubmittersRCV002026088 RCV002486707
NM_001379200.1(TBX1):c.711+3G>A	SNV Germline	Chr22:19764329	Conflicting classifications of pathogenicity	DiGeorge syndrome Tetralogy of Fallot Conotruncal heart malformations Velocardiofacial syndrome DiGeorge syndrome TBX1-related disorder	Criteria Provided Conflicting Classifications		rs_376779775	3 SubmittersRCV001930671 RCV002479395 RCV003892953
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 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		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 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 Condition: not provided	Criteria Provided Conflicting Classifications		rs_755047447	3 SubmittersRCV001977312 RCV002497926 RCV003481232
NM_001458.5(FLNC):c.1453C>T (p.Gln485Ter)	SNV Germline	Chr7:128840064	Pathogenic	Tetralogy of Fallot	No Assertion Criteria Provided			1 SubmittersRCV003156715
NM_001379200.1(TBX1):c.437+1G>C	SNV Unknown	Chr22:19761281	Likely pathogenic	Velocardiofacial syndrome Tetralogy of Fallot DiGeorge syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003148070 RCV003148068 RCV003148069
NM_004387.4(NKX2-5):c.469T>G (p.Phe157Val)	SNV Germline	Chr5:173233075	Likely pathogenic	Tetralogy of Fallot	Criteria Provided Single Submitter			1 SubmittersRCV003315207

NM_000214.3(JAG1):c.551G>A (p.Arg184His)

SNV
Germline

Chr20:10658611

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA254223

rs_121918351

7 SubmittersRCV000008059 RCV000725979 RCV002476943

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
Truncus arteriosus
Hypoplastic left heart syndrome 2
Congenital heart disease
Aortic arch interruption
not specified
Cardiovascular phenotype
Atrial septal defect 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA120055

rs_28936670

10 SubmittersRCV000009572 RCV000009573 RCV000023018 RCV000023019 RCV000030339 RCV000023017 RCV000037968 RCV000619696 RCV000987632 RCV003311655

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

9 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
Inborn genetic diseases
Condition: not provided
Atrioventricular septal defect 4
Pulmonic stenosis
Pulmonary valve atresia
Tricuspid regurgitation
Congenital heart disease
not specified
GATA4-related disorder

Criteria Provided
Conflicting Classifications

CA204708

rs_56208331

11 SubmittersRCV000009600 RCV000009601 RCV000190715 RCV000431077 RCV000988036 RCV000626818 RCV002470705 RCV001794439 RCV004018606

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
Testicular anomalies with or without congenital heart disease
Male infertility with azoospermia or oligozoospermia due to single gene mutation
Condition: not provided

Criteria Provided
Conflicting Classifications

CA212669

rs_387906769

7 SubmittersRCV000023002 RCV000023004 RCV000023003 RCV002470717 RCV003991569 RCV001753426

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

SNV
Germline

Chr8:11758366

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA212683

rs_115099192

8 SubmittersRCV000023008 RCV000030949 RCV000490358 RCV000526826 RCV001007695 RCV001195378 RCV001252768 RCV001555802 RCV002272027

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_012082.4(ZFPM2):c.1632G>A (p.Met544Ile)

SNV
Germline

Chr8:105801714

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA170935

rs_187043152

10 SubmittersRCV000032716 RCV000144723 RCV000455350 RCV000514546 RCV001007702 RCV003974865

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

SNV
Germline

Chr8:11750149

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA133997

rs_55980825

12 SubmittersRCV000037324 RCV000228063 RCV000249584 RCV000578024 RCV000577946 RCV000578059 RCV000577944 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
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

Criteria Provided
Conflicting Classifications

CA270004

rs_527236046

6 SubmittersRCV000132568 RCV000597619 RCV001138646 RCV002498649

NM_004444.5(EPHB4):c.980C>T (p.Pro327Leu)

SNV
Germline

Chr7:100819874

Likely pathogenic

Tetralogy of Fallot

No Assertion Criteria Provided

CA10602395

rs_1057515420

1 SubmittersRCV000408650

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
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9764423

rs_149419694

6 SubmittersRCV000220286 RCV000476409 RCV000765486 RCV002429080

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
Tetralogy of Fallot
Charcot-Marie-Tooth disease, axonal, Type 2HH
Alagille syndrome due to a JAG1 point mutation

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
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

Criteria Provided
Conflicting Classifications

CA9765038

rs_768317581

4 SubmittersRCV000213865 RCV001369966 RCV002444870 RCV002485440

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

Criteria Provided
Conflicting Classifications

CA9764562

rs_140330283

5 SubmittersRCV000357300 RCV000730538 RCV000618450 RCV000645019 RCV002487494

NM_001018005.2(TPM1):c.114+2T>C

SNV
Not applicable

Chr15:63042945

Likely pathogenic

Tetralogy of Fallot

No Assertion Criteria Provided

CA392718181

rs_1114167357

1 SubmittersRCV000491976

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

SNV
Germline

Chr18:22200698

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8909066

rs_146243018

4 SubmittersRCV000470809 RCV001764455 RCV003224291 RCV002525630

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

SNV
Germline

Chr20:10639688

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9764206

rs_143966918

5 SubmittersRCV000687251 RCV000765484 RCV000730936

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
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

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
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

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
Tetralogy of Fallot
Charcot-Marie-Tooth disease, axonal, Type 2HH
Deafness, congenital heart defects, and posterior embryotoxon

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
Charcot-Marie-Tooth disease, axonal, Type 2HH
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

CA9764165

rs_150295026

5 SubmittersRCV000596800 RCV001854061 RCV002456305 RCV002491208 RCV004553327

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

6 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.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
Deafness, congenital heart defects, and posterior embryotoxon
Tetralogy of Fallot
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
Charcot-Marie-Tooth disease, axonal, Type 2HH
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon

Criteria Provided
Conflicting Classifications

rs_534533867

3 SubmittersRCV000732141 RCV000694563 RCV002477575

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

Criteria Provided
Conflicting Classifications

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
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

rs_138007561

4 SubmittersRCV000729669 RCV001226725 RCV002485869

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
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

rs_758876727

3 SubmittersRCV000730832 RCV001855645 RCV002493329

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

SNV
Germline

Chr20:10672840

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

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

Criteria Provided
Conflicting Classifications

rs_753192876

4 SubmittersRCV000735273 RCV002535423 RCV002493365 RCV002386310

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

SNV
Germline

Chr22:19761194

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

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

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
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

Criteria Provided
Conflicting Classifications

rs_368032094

2 SubmittersRCV001044255 RCV002481911

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

Criteria Provided
Conflicting Classifications

rs_1268561604

4 SubmittersRCV001200019 RCV002484072 RCV003284036 RCV003770226

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
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH
Tetralogy of Fallot

Criteria Provided
Conflicting Classifications

rs_144204614

2 SubmittersRCV001217867 RCV002491678

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
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

rs_376089631

2 SubmittersRCV001203477 RCV002484096

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
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH
Tetralogy of Fallot
JAG1-related disorder

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Conflicting Classifications

rs_144848597

3 SubmittersRCV001202887 RCV002069302 RCV001570784

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
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
Conflicting Classifications

rs_111706668

2 SubmittersRCV001246770 RCV002480844

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

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

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

rs_1431830142

3 SubmittersRCV001290235 RCV001760327

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

SNV
Germline

Chr3:78938745

Likely pathogenic

Tetralogy of Fallot

Criteria Provided
Single Submitter

rs_1017845770

1 SubmittersRCV001290239

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

SNV
Germline

Chr18:22171804

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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
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

rs_750570683

2 SubmittersRCV001301911 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
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

rs_767826365

3 SubmittersRCV001309210 RCV002437057 RCV002476429

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
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

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
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

rs_150811951

3 SubmittersRCV001351919 RCV002322306 RCV002486458

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
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

rs_1480738447

2 SubmittersRCV001351249 RCV002499704

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

Criteria Provided
Conflicting Classifications

rs_752608779

2 SubmittersRCV001341202 RCV002499675

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
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

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
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH
JAG1-related disorder

Criteria Provided
Conflicting Classifications

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
Tetralogy of Fallot
Deafness, congenital heart defects, and posterior embryotoxon
Charcot-Marie-Tooth disease, axonal, Type 2HH
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_372904306

3 SubmittersRCV001369546 RCV002493884 RCV003169894

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
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

rs_574205422

3 SubmittersRCV001487548 RCV002432367 RCV002495730

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

rs_758788135

4 SubmittersRCV001989225 RCV002479705 RCV003170463 RCV004553615

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

SNV
Germline

Chr20:10649600

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

rs_755648887

2 SubmittersRCV001864130 RCV002506897

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

SNV
Germline

Chr20:10672772

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_909905245

3 SubmittersRCV001992501 RCV002324391 RCV002479548

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
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
See cases

Criteria Provided
Conflicting Classifications

rs_747142039

3 SubmittersRCV001981850 RCV002484630 RCV004584452

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

Criteria Provided
Conflicting Classifications

rs_768823146

2 SubmittersRCV002026088 RCV002486707

NM_001379200.1(TBX1):c.711+3G>A

SNV
Germline

Chr22:19764329

Conflicting classifications of pathogenicity

DiGeorge syndrome
Tetralogy of Fallot
Conotruncal heart malformations
Velocardiofacial syndrome
DiGeorge syndrome
TBX1-related disorder

Criteria Provided
Conflicting Classifications

rs_376779775

3 SubmittersRCV001930671 RCV002479395 RCV003892953

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
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

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
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
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_755047447

3 SubmittersRCV001977312 RCV002497926 RCV003481232

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

SNV
Germline

Chr7:128840064

Pathogenic

Tetralogy of Fallot

No Assertion Criteria Provided

1 SubmittersRCV003156715

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

SNV
Unknown