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.2916+1G>C	SNV Germline	Chr20:10641459	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408244686	rs_1568791920	2 SubmittersRCV000008055
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_024408.4(NOTCH2):c.5930-1G>A	SNV Germline	Chr1:119917763	Pathogenic	Alagille syndrome due to a NOTCH2 point mutation	No Assertion Criteria Provided	CA340896	rs_312262798	1 SubmittersRCV000009810
NM_024408.4(NOTCH2):c.1331G>A (p.Cys444Tyr)	SNV Germline	Chr1:119967555	Pathogenic	Alagille syndrome due to a NOTCH2 point mutation	No Assertion Criteria Provided	CA340897	rs_111033632	1 SubmittersRCV000009811
NM_000214.3(JAG1):c.3583A>G (p.Asn1195Asp)	SNV Germline	Chr20:10639572	Conflicting classifications of pathogenicity	not specified Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA131303	rs_397515876	3 SubmittersRCV000035334 RCV001056389 RCV004018738
NM_024408.4(NOTCH2):c.3206G>A (p.Arg1069Gln)	SNV Germline	Chr1:119937988	Conflicting classifications of pathogenicity	not specified Condition: not provided Hajdu-Cheney syndrome Alagille syndrome due to a NOTCH2 point mutation Inborn genetic diseases NOTCH2-related disorder Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications	CA161257	rs_146014987	6 SubmittersRCV000121715 RCV000725834 RCV000764962 RCV005372235 RCV003892113 RCV002515888
NM_024408.4(NOTCH2):c.6979A>G (p.Thr2327Ala)	SNV Germline	Chr1:119915743	Conflicting classifications of pathogenicity	not specified Hajdu-Cheney syndrome Condition: not provided NOTCH2-related disorder Hajdu-Cheney syndrome Alagille syndrome due to a NOTCH2 point mutation	Criteria Provided Conflicting Classifications	CA161291	rs_587778578	5 SubmittersRCV000121732 RCV002517602 RCV000729463 RCV004739418 RCV002483225
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.601C>T (p.Arg201Cys)	SNV Germline	Chr20:10658561	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation not specified Condition: not provided JAG1-related disorder	Criteria Provided Conflicting Classifications	CA245082	rs_794727618	6 SubmittersRCV000697814 RCV001175471 RCV000178063 RCV004553002
NM_000214.3(JAG1):c.1101C>T (p.Thr367=)	SNV Germline	Chr20:10651600	Conflicting classifications of pathogenicity	Condition: not provided JAG1-related disorder Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA247501	rs_766771784	4 SubmittersRCV000180112 RCV004553021 RCV002054143 RCV002426861
NM_000214.3(JAG1):c.806C>T (p.Pro269Leu)	SNV Germline	Chr20:10652548	Conflicting classifications of pathogenicity	Inborn genetic diseases Alagille syndrome due to a JAG1 point mutation	Criteria Provided Conflicting Classifications	CA204910	rs_797044956	2 SubmittersRCV000190813 RCV002514092
NM_000214.3(JAG1):c.2698C>T (p.Arg900Ter)	SNV Germline	Chr20:10641678	Pathogenic	Atypical coarctation of aorta Alagille syndrome due to a JAG1 point mutation Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA323731	rs_1555827789	3 SubmittersRCV000845198 RCV001384081 RCV002251338
NM_000214.3(JAG1):c.2322G>A (p.Trp774Ter)	SNV Germline	Chr20:10644885	Pathogenic	Condition: not provided Alagille syndrome due to a JAG1 point mutation	Criteria Provided Multiple Submitters No Conflicts	CA320857	rs_1555828173	2 SubmittersRCV000733387 RCV001853159
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_000214.3(JAG1):c.1826C>T (p.Ser609Leu)	SNV Germline	Chr20:10646998	Conflicting classifications of pathogenicity	Condition: not provided Isolated Nonsyndromic Congenital Heart Disease Alagille syndrome due to a JAG1 point mutation not specified JAG1-related disorder	Criteria Provided Conflicting Classifications	CA321634	rs_199505265	7 SubmittersRCV000197189 RCV000351515 RCV001062019 RCV002247622 RCV004553067
NM_000214.3(JAG1):c.1627C>T (p.Arg543Cys)	SNV Germline	Chr20:10648053	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation	Criteria Provided Conflicting Classifications	CA324982	rs_375017114	3 SubmittersRCV000200413 RCV001054389
NM_000214.3(JAG1):c.1156G>A (p.Gly386Arg)	SNV Germline	Chr20:10650325	Pathogenic/Likely pathogenic	Condition: not provided Alagille syndrome due to a JAG1 point mutation JAG1-related disorder Arteriohepatic dysplasia	Criteria Provided Multiple Submitters No Conflicts	CA324344	rs_863223650	7 SubmittersRCV001529686 RCV000645012 RCV004553066 RCV005414324
NM_000214.3(JAG1):c.910C>T (p.Gln304Ter)	SNV Germline	Chr20:10652227	Pathogenic	Condition: not provided Alagille syndrome due to a JAG1 point mutation	Criteria Provided Multiple Submitters No Conflicts	CA322726	rs_863223649	2 SubmittersRCV000198219 RCV000817591
NM_000214.3(JAG1):c.439+1G>A	SNV Germline	Chr20:10663962	Pathogenic	Condition: not provided Atypical coarctation of aorta JAG1-related disorder Alagille syndrome due to a JAG1 point mutation	Criteria Provided Multiple Submitters No Conflicts	CA324540	rs_863223648	7 SubmittersRCV000199991 RCV000845195 RCV004553065 RCV001853157
NM_000214.3(JAG1):c.3G>A (p.Met1Ile)	SNV Germline	Chr20:10673528	Pathogenic	Condition: not provided Alagille syndrome due to a JAG1 point mutation	Criteria Provided Multiple Submitters No Conflicts	CA322254	rs_1555831014	2 SubmittersRCV000728541 RCV001210761
NM_000214.3(JAG1):c.3048+1G>T	SNV Germline	Chr20:10641112	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation	Criteria Provided Conflicting Classifications	CA10577604	rs_876661121	4 SubmittersRCV000219290 RCV004576930
NM_000214.3(JAG1):c.2304C>A (p.Cys768Ter)	SNV Germline	Chr20:10644903	Pathogenic	Condition: not provided Alagille syndrome due to a JAG1 point mutation	Criteria Provided Multiple Submitters No Conflicts	CA10577608	rs_755427292	2 SubmittersRCV000216570 RCV002519743
NM_000214.3(JAG1):c.2705G>C (p.Cys902Ser)	SNV Germline	Chr20:10641671	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation	Criteria Provided Conflicting Classifications	CA10577610	rs_876661122	2 SubmittersRCV000214606 RCV001236096
NM_000214.3(JAG1):c.2418C>A (p.Cys806Ter)	SNV Germline	Chr20:10643818	Pathogenic	Condition: not provided Alagille syndrome due to a JAG1 point mutation	Criteria Provided Multiple Submitters No Conflicts	CA10577614	rs_533306015	2 SubmittersRCV000220022 RCV000468229
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.871C>T (p.Gln291Ter)	SNV Germline	Chr20:10652483	Pathogenic	Condition: not provided Alagille syndrome due to a JAG1 point mutation	Criteria Provided Multiple Submitters No Conflicts	CA10577618	rs_876661096	2 SubmittersRCV000220558 RCV002516193
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.1720+5C>T	SNV Germline	Chr20:10647955	Conflicting classifications of pathogenicity	not specified Alagille syndrome due to a JAG1 point mutation	Criteria Provided Conflicting Classifications	CA9764786	rs_757230587	2 SubmittersRCV000253050 RCV005090255
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.2286C>T (p.Asn762=)	SNV Germline	Chr20:10644921	Conflicting classifications of pathogenicity	Cardiovascular phenotype Condition: not provided Alagille syndrome due to a JAG1 point mutation	Criteria Provided Conflicting Classifications	CA9764566	rs_144190443	4 SubmittersRCV000244899 RCV000734570 RCV001442516
NM_000214.3(JAG1):c.2778C>T (p.Phe926=)	SNV Germline	Chr20:10641598	Conflicting classifications of pathogenicity	Cardiovascular phenotype Condition: not provided Isolated Nonsyndromic Congenital Heart Disease Alagille syndrome due to a JAG1 point mutation	Criteria Provided Conflicting Classifications	CA9764396	rs_147793030	8 SubmittersRCV000250492 RCV000263872 RCV001138548 RCV001083311
NM_000214.3(JAG1):c.814G>A (p.Val272Ile)	SNV Germline	Chr20:10652540	Conflicting classifications of pathogenicity	Cardiovascular phenotype Condition: not provided Alagille syndrome due to a JAG1 point mutation JAG1-related disorder	Criteria Provided Conflicting Classifications	CA9765043	rs_148990028	5 SubmittersRCV000244534 RCV000597837 RCV001081833 RCV004547640
NM_000214.3(JAG1):c.3048+1G>A	SNV Germline	Chr20:10641112	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation	Criteria Provided Conflicting Classifications	CA10588691	rs_876661121	3 SubmittersRCV000255615 RCV001859478
NM_024408.4(NOTCH2):c.6362A>G (p.Lys2121Arg)	SNV Germline	Chr1:119916360	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome Inborn genetic diseases Alagille syndrome due to a NOTCH2 point mutation Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications	CA1039440	rs_148393324	4 SubmittersRCV000276229 RCV002059111 RCV002519113 RCV005025419
NM_000214.3(JAG1):c.36C>A (p.Arg12=)	SNV Germline	Chr20:10673495	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation	Criteria Provided Conflicting Classifications	CA10604710	rs_886042810	2 SubmittersRCV000325023 RCV002519144
NM_024408.4(NOTCH2):c.6496T>C (p.Ser2166Pro)	SNV Germline	Chr1:119916226	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome Alagille syndrome due to a NOTCH2 point mutation	Criteria Provided Conflicting Classifications	CA10604764	rs_886042848	2 SubmittersRCV000357190 RCV004725140
NM_000214.3(JAG1):c.1464C>T (p.Ile488=)	SNV Germline	Chr20:10648654	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation	Criteria Provided Conflicting Classifications	CA9764838	rs_374629171	2 SubmittersRCV000260075 RCV001502718
NM_024408.4(NOTCH2):c.5977A>G (p.Thr1993Ala)	SNV Germline	Chr1:119917715	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a NOTCH2 point mutation Hajdu-Cheney syndrome Inborn genetic diseases Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications	CA1039526	rs_779769077	4 SubmittersRCV000388266 RCV002487236 RCV005452970 RCV005090367
NM_000214.3(JAG1):c.1920C>T (p.Asn640=)	SNV Germline	Chr20:10646050	Conflicting classifications of pathogenicity	Isolated Nonsyndromic Congenital Heart Disease Condition: not provided Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9764702	rs_372121353	4 SubmittersRCV000289604 RCV000321152 RCV001088552 RCV002411158
NM_000214.3(JAG1):c.841C>T (p.Gln281Ter)	SNV Germline	Chr20:10652513	Pathogenic	Alagille syndrome due to a JAG1 point mutation Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10605712	rs_886043603	2 SubmittersRCV000342012 RCV000725977
NM_000214.3(JAG1):c.439C>T (p.Gln147Ter)	SNV Germline	Chr20:10663963	Pathogenic	Alagille syndrome due to a JAG1 point mutation Condition: not provided JAG1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10605717	rs_886043606	4 SubmittersRCV000370816 RCV000725978 RCV004739659
NM_000214.3(JAG1):c.3329A>C (p.Asn1110Thr)	SNV Germline	Chr20:10639826	Conflicting classifications of pathogenicity	Isolated Nonsyndromic Congenital Heart Disease Condition: not provided Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9764224	rs_150811951	5 SubmittersRCV000276199 RCV000726021 RCV001052188 RCV002321960
NM_000214.3(JAG1):c.3342C>T (p.Asn1114=)	SNV Germline	Chr20:10639813	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Alagille syndrome due to a JAG1 point mutation	Criteria Provided Conflicting Classifications	CA9764220	rs_759853433	3 SubmittersRCV000376088 RCV002321963 RCV003619669
NM_000214.3(JAG1):c.2781C>T (p.Val927=)	SNV Germline	Chr20:10641595	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype JAG1-related disorder	Criteria Provided Conflicting Classifications	CA9764394	rs_746664646	4 SubmittersRCV000313708 RCV001089190 RCV002436121 RCV004549606
NM_000214.3(JAG1):c.3651C>T (p.Ile1217=)	SNV Germline	Chr20:10639504	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation Isolated Nonsyndromic Congenital Heart Disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9764166	rs_542831744	4 SubmittersRCV000343144 RCV001078752 RCV001141013 RCV003165767
NM_000214.3(JAG1):c.2329C>T (p.Pro777Ser)	SNV Germline	Chr20:10644878	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation Isolated Nonsyndromic Congenital Heart Disease not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9764557	rs_202063628	7 SubmittersRCV000726296 RCV001083154 RCV000369805 RCV000366468 RCV005582289
NM_000214.3(JAG1):c.2122C>T (p.Gln708Ter)	SNV Germline	Chr20:10645248	Pathogenic	Condition: not provided Alagille syndrome due to a JAG1 point mutation	Criteria Provided Multiple Submitters No Conflicts	CA10606390	rs_886044136	2 SubmittersRCV000275364 RCV002518076
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.1146C>T (p.Asn382=)	SNV Germline	Chr20:10650335	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype JAG1-related disorder Condition: not provided Alagille syndrome due to a JAG1 point mutation	Criteria Provided Conflicting Classifications	CA9764966	rs_200133928	6 SubmittersRCV000346646 RCV000621443 RCV004549621 RCV000726436 RCV001087114
NM_000214.3(JAG1):c.2682+8A>G	SNV Germline	Chr20:10641775	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation	Criteria Provided Conflicting Classifications	CA9764419	rs_560065330	2 SubmittersRCV000292075 RCV000645024
NM_000214.3(JAG1):c.204C>T (p.Arg68=)	SNV Germline	Chr20:10672884	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype JAG1-related disorder	Criteria Provided Conflicting Classifications	CA9765195	rs_565407240	4 SubmittersRCV000263328 RCV001457336 RCV004021302 RCV004549622
NM_000214.3(JAG1):c.2298T>C (p.Phe766=)	SNV Germline	Chr20:10644909	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype JAG1-related disorder	Criteria Provided Conflicting Classifications	CA9764563	rs_771544217	4 SubmittersRCV000324880 RCV002059305 RCV004021313 RCV004549626
NM_024408.4(NOTCH2):c.6999G>A (p.Ala2333=)	SNV Germline	Chr1:119915723	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a NOTCH2 point mutation Hajdu-Cheney syndrome Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications	CA1039338	rs_760004891	3 SubmittersRCV000353065 RCV002502157 RCV002518153
NM_000214.3(JAG1):c.2604T>C (p.Ser868=)	SNV Germline	Chr20:10641861	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Alagille syndrome due to a JAG1 point mutation	Criteria Provided Conflicting Classifications	CA9764437	rs_138189639	3 SubmittersRCV000294579 RCV002429240 RCV002518165
NM_024408.4(NOTCH2):c.6893G>A (p.Arg2298Gln)	SNV Germline	Chr1:119915829	Conflicting classifications of pathogenicity	Alagille syndrome due to a NOTCH2 point mutation Hajdu-Cheney syndrome Hajdu-Cheney syndrome Condition: not provided NOTCH2-related disorder	Criteria Provided Conflicting Classifications	CA1039360	rs_140832430	4 SubmittersRCV000764961 RCV002061146 RCV000405161 RCV003422203
NM_000214.3(JAG1):c.3297G>A (p.Pro1099=)	SNV Germline	Chr20:10639858	Conflicting classifications of pathogenicity	Isolated Nonsyndromic Congenital Heart Disease Cardiovascular phenotype Alagille syndrome due to a JAG1 point mutation	Criteria Provided Conflicting Classifications	CA9764230	rs_748849177	3 SubmittersRCV000281669 RCV002450913 RCV001497922
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.2199C>T (p.Gly733=)	SNV Germline	Chr20:10645171	Conflicting classifications of pathogenicity	Isolated Nonsyndromic Congenital Heart Disease Condition: not provided Alagille syndrome due to a JAG1 point mutation JAG1-related disorder	Criteria Provided Conflicting Classifications	CA9764608	rs_756062969	5 SubmittersRCV000376106 RCV000728145 RCV001502689 RCV004549771
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_000214.3(JAG1):c.3521C>T (p.Pro1174Leu)	SNV Germline	Chr20:10639634	Conflicting classifications of pathogenicity	Isolated Nonsyndromic Congenital Heart Disease Alagille syndrome due to a JAG1 point mutation Condition: not provided JAG1-related disorder	Criteria Provided Conflicting Classifications	CA9764197	rs_775363555	5 SubmittersRCV000310081 RCV001506176 RCV000592285 RCV004739693
NM_000214.3(JAG1):c.3343G>A (p.Val1115Met)	SNV Germline	Chr20:10639812	Conflicting classifications of pathogenicity	Isolated Nonsyndromic Congenital Heart Disease Condition: not provided Cardiovascular phenotype Alagille syndrome due to a JAG1 point mutation	Criteria Provided Conflicting Classifications	CA9764219	rs_148373907	5 SubmittersRCV000389258 RCV000729052 RCV002323546 RCV001214423
NM_000214.3(JAG1):c.2917-7G>A	SNV Germline	Chr20:10641251	Conflicting classifications of pathogenicity	Isolated Nonsyndromic Congenital Heart Disease Condition: not provided Alagille syndrome due to a JAG1 point mutation	Criteria Provided Conflicting Classifications	CA9764342	rs_201573066	3 SubmittersRCV000336734 RCV000591911 RCV001488793
NM_000214.3(JAG1):c.3570G>A (p.Pro1190=)	SNV Germline	Chr20:10639585	Conflicting classifications of pathogenicity	Isolated Nonsyndromic Congenital Heart Disease Cardiovascular phenotype Condition: not provided Alagille syndrome due to a JAG1 point mutation JAG1-related disorder	Criteria Provided Conflicting Classifications	CA9764183	rs_201572666	7 SubmittersRCV000299839 RCV002450912 RCV000867990 RCV001522902 RCV004549768
NM_000214.3(JAG1):c.2590A>G (p.Ile864Val)	SNV Germline	Chr20:10641875	Conflicting classifications of pathogenicity	Isolated Nonsyndromic Congenital Heart Disease Arteriohepatic dysplasia Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9764441	rs_142742183	3 SubmittersRCV000339764 RCV000408414 RCV001068124 RCV004021826
NM_000214.3(JAG1):c.133G>T (p.Val45Leu)	SNV Germline	Chr20:10672955	Conflicting classifications of pathogenicity	Isolated Nonsyndromic Congenital Heart Disease not specified Cardiovascular phenotype Alagille syndrome due to a JAG1 point mutation Condition: not provided	Criteria Provided Conflicting Classifications	CA9765209	rs_183974372	6 SubmittersRCV000303889 RCV000597398 RCV000618886 RCV000645022 RCV001672588
NM_000214.3(JAG1):c.399G>A (p.Thr133=)	SNV Germline	Chr20:10664003	Conflicting classifications of pathogenicity	not specified Alagille syndrome due to a JAG1 point mutation Condition: not provided Cardiovascular phenotype JAG1-related disorder	Criteria Provided Conflicting Classifications	CA9765145	rs_763154396	5 SubmittersRCV000423465 RCV000528720 RCV000732793 RCV002374703 RCV004551495
NM_000214.3(JAG1):c.3006C>A (p.Cys1002Ter)	SNV Germline	Chr20:10641155	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA16616230	rs_372984801	1 SubmittersRCV000468292
NM_000214.3(JAG1):c.2844C>A (p.Cys948Ter)	SNV Germline	Chr20:10641532	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA16616233	rs_1060501352	1 SubmittersRCV000470074
NM_000214.3(JAG1):c.2688G>A (p.Trp896Ter)	SNV Germline	Chr20:10641688	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA16616454	rs_1060501350	1 SubmittersRCV000461685
NM_000214.3(JAG1):c.543T>A (p.Tyr181Ter)	SNV Germline	Chr20:10658619	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA16616456	rs_1060501351	1 SubmittersRCV000476270
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_024408.4(NOTCH2):c.4178G>A (p.Arg1393His)	SNV Germline	Chr1:119925638	Conflicting classifications of pathogenicity	NOTCH2-related disorder Hajdu-Cheney syndrome Alagille syndrome due to a NOTCH2 point mutation Condition: not provided Inborn genetic diseases Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications	CA1039899	rs_587735797	5 SubmittersRCV003409725 RCV005027594 RCV000513966 RCV004955568 RCV005091172
NM_000214.3(JAG1):c.2498C>T (p.Ala833Val)	SNV Germline	Chr20:10642562	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Alagille syndrome due to a JAG1 point mutation	Criteria Provided Conflicting Classifications	CA9764482	rs_141292792	3 SubmittersRCV000522322 RCV002431493 RCV002528288
NM_000214.3(JAG1):c.634T>C (p.Cys212Arg)	SNV Germline	Chr20:10658528	Likely pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408240030	rs_1555829660	1 SubmittersRCV000553685
NM_000214.3(JAG1):c.3281G>A (p.Arg1094Gln)	SNV Germline	Chr20:10639874	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Condition: not provided JAG1-related disorder	Criteria Provided Conflicting Classifications	CA9764236	rs_139629694	3 SubmittersRCV000527222 RCV001560044 RCV004553236
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_024408.4(NOTCH2):c.7199G>A (p.Arg2400Gln)	SNV Germline	Chr1:119915523	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome NOTCH2-related disorder Alagille syndrome due to a NOTCH2 point mutation Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications	CA1039304	rs_587654671	4 SubmittersRCV000591336 RCV002532381 RCV003905515 RCV005019015
NM_000214.3(JAG1):c.2671G>A (p.Ala891Thr)	SNV Germline	Chr20:10641794	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA408245235	rs_1454234098	4 SubmittersRCV000591762 RCV001342639 RCV004024732
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.1415G>A (p.Arg472His)	SNV Germline	Chr20:10648703	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation JAG1-related disorder	Criteria Provided Conflicting Classifications	CA9764848	rs_574349599	3 SubmittersRCV000596400 RCV002065158 RCV004553316
NM_000214.3(JAG1):c.1214C>G (p.Thr405Ser)	SNV Germline	Chr20:10650267	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation	Criteria Provided Conflicting Classifications	CA408238405	rs_1237367300	2 SubmittersRCV000595190 RCV005091561
NM_000214.3(JAG1):c.3560A>G (p.Asn1187Ser)	SNV Germline	Chr20:10639595	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation	Criteria Provided Conflicting Classifications	CA9764188	rs_755420729	2 SubmittersRCV000595898 RCV001860182
NM_000214.3(JAG1):c.2451C>T (p.Cys817=)	SNV Germline	Chr20:10643785	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9764501	rs_747532570	3 SubmittersRCV000595685 RCV003509576 RCV004024771
NM_000214.3(JAG1):c.2043G>A (p.Thr681=)	SNV Germline	Chr20:10645426	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Alagille syndrome due to a JAG1 point mutation	Criteria Provided Conflicting Classifications	CA9764662	rs_151291264	3 SubmittersRCV000596723 RCV000618168 RCV001089168
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.1628G>A (p.Arg543His)	SNV Germline	Chr20:10648052	Conflicting classifications of pathogenicity	not specified Condition: not provided Alagille syndrome due to a JAG1 point mutation JAG1-related disorder	Criteria Provided Conflicting Classifications	CA9764801	rs_544877858	4 SubmittersRCV000593468 RCV000727161 RCV001208418 RCV004553323
NM_000214.3(JAG1):c.2739C>T (p.Ser913=)	SNV Germline	Chr20:10641637	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation Isolated Nonsyndromic Congenital Heart Disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9764403	rs_766479402	4 SubmittersRCV000593636 RCV001088682 RCV001141105 RCV002438540
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.3280C>T (p.Arg1094Trp)	SNV Germline	Chr20:10639875	Conflicting classifications of pathogenicity	Condition: not provided JAG1-related disorder Alagille syndrome due to a JAG1 point mutation	Criteria Provided Conflicting Classifications	CA9764237	rs_75652750	3 SubmittersRCV000597293 RCV004553330 RCV001401841
NM_000214.3(JAG1):c.1335G>A (p.Gln445=)	SNV Germline	Chr20:10649535	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Alagille syndrome due to a JAG1 point mutation JAG1-related disorder	Criteria Provided Conflicting Classifications	CA9764915	rs_759545669	4 SubmittersRCV000593319 RCV002384301 RCV001437665 RCV004740356
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.3347G>A (p.Arg1116Gln)	SNV Germline	Chr20:10639808	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype JAG1-related disorder	Criteria Provided Conflicting Classifications	CA311367451	rs_908755268	4 SubmittersRCV000596683 RCV001337732 RCV002325132 RCV004553338
NM_024408.4(NOTCH2):c.875-9C>G	SNV Germline	Chr1:119969753	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a NOTCH2 point mutation Hajdu-Cheney syndrome Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications	CA526249902	rs_1324363153	3 SubmittersRCV000597523 RCV002476332 RCV003633519
NM_000214.3(JAG1):c.1755C>T (p.Asn585=)	SNV Germline	Chr20:10647069	Conflicting classifications of pathogenicity	Cardiovascular phenotype Condition: not provided Isolated Nonsyndromic Congenital Heart Disease Alagille syndrome due to a JAG1 point mutation	Criteria Provided Conflicting Classifications	CA9764756	rs_142808131	7 SubmittersRCV002413683 RCV000597479 RCV001138226 RCV001079881
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_000214.3(JAG1):c.1117A>G (p.Thr373Ala)	SNV Germline	Chr20:10651584	Conflicting classifications of pathogenicity	not specified Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA408238638	rs_1212026437	3 SubmittersRCV000610679 RCV001868072 RCV003362862
NM_024408.4(NOTCH2):c.7198C>T (p.Arg2400Ter)	SNV Germline	Chr1:119915524	Pathogenic	Hajdu-Cheney syndrome Condition: not provided Alagille syndrome due to a NOTCH2 point mutation	Criteria Provided Multiple Submitters No Conflicts	CA341872777	rs_1325403451	7 SubmittersRCV000617014 RCV002508237 RCV004760646
NM_000214.3(JAG1):c.1866G>A (p.Thr622=)	SNV Germline	Chr20:10646958	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Alagille syndrome due to a JAG1 point mutation	Criteria Provided Conflicting Classifications	CA9764736	rs_140624746	3 SubmittersRCV000734060 RCV000621611 RCV003509587
NM_000214.3(JAG1):c.2113+5G>C	SNV Germline	Chr20:10645351	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA658799330	rs_886044704	1 SubmittersRCV000625818
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.2473C>T (p.Gln825Ter)	SNV Germline	Chr20:10642587	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408245678	rs_1437309558	1 SubmittersRCV000645020
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.700T>A (p.Cys234Ser)	SNV Germline	Chr20:10656453	Likely pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408239859	rs_1555829415	1 SubmittersRCV000645018
NM_000214.3(JAG1):c.1609G>A (p.Gly537Ser)	SNV Germline	Chr20:10648071	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9764802	rs_756787187	4 SubmittersRCV000657990 RCV001352536 RCV002388163
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.2113+1G>T	SNV Germline	Chr20:10645355	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408235372	rs_1294950721	1 SubmittersRCV000708596
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.1971C>T (p.Asp657=)	SNV Germline	Chr20:10645999	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype JAG1-related disorder	Criteria Provided Conflicting Classifications	CA9764696	rs_368661822	4 SubmittersRCV000728702 RCV002067089 RCV002422625 RCV004547921
NM_000214.3(JAG1):c.1325G>A (p.Trp442Ter)	SNV Germline	Chr20:10649545	Pathogenic	Condition: not provided Alagille syndrome due to a JAG1 point mutation	Criteria Provided Multiple Submitters No Conflicts	CA408238138	rs_1568796883	2 SubmittersRCV000728711 RCV003509594
NM_024408.4(NOTCH2):c.822T>G (p.Val274=)	SNV Germline	Chr1:119987012	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a NOTCH2 point mutation Hajdu-Cheney syndrome Hajdu-Cheney syndrome NOTCH2-related disorder	Criteria Provided Conflicting Classifications	CA1040667	rs_782642000	4 SubmittersRCV000729258 RCV002477692 RCV003633537 RCV003947920
NM_000214.3(JAG1):c.2805G>A (p.Glu935=)	SNV Germline	Chr20:10641571	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation	Criteria Provided Conflicting Classifications	CA509816068	rs_1568792051	2 SubmittersRCV000729409 RCV003619719
NM_000214.3(JAG1):c.1704C>T (p.Arg568=)	SNV Germline	Chr20:10647976	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9764790	rs_144985667	3 SubmittersRCV000729542 RCV001862177 RCV002397506
NM_000214.3(JAG1):c.494G>A (p.Arg165Gln)	SNV Germline	Chr20:10658668	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation	Criteria Provided Conflicting Classifications	CA9765119	rs_779793192	3 SubmittersRCV000729607 RCV001337598
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.1527C>A (p.Phe509Leu)	SNV Germline	Chr20:10648591	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9764833	rs_770377023	6 SubmittersRCV000729751 RCV001245527 RCV005367529
NM_000214.3(JAG1):c.702C>T (p.Cys234=)	SNV Germline	Chr20:10656451	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Alagille syndrome due to a JAG1 point mutation	Criteria Provided Conflicting Classifications	CA9765073	rs_202109974	3 SubmittersRCV000729815 RCV002369992 RCV002060982
NM_000214.3(JAG1):c.82-2A>G	SNV Germline	Chr20:10673008	Pathogenic	Condition: not provided Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408243961	rs_1568807161	2 SubmittersRCV000729851 RCV003319416
NM_024408.4(NOTCH2):c.6562G>A (p.Ala2188Thr)	SNV Germline	Chr1:119916160	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome Alagille syndrome due to a NOTCH2 point mutation Hajdu-Cheney syndrome NOTCH2-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1039404	rs_139052054	7 SubmittersRCV000730285 RCV001855748 RCV002485874 RCV003420300 RCV005384838
NM_000214.3(JAG1):c.694+1G>T	SNV Germline	Chr20:10658467	Pathogenic	Condition: not provided Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408239878	rs_876660979	2 SubmittersRCV000730398 RCV003319417
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_024408.4(NOTCH2):c.7342G>T (p.Ala2448Ser)	SNV Germline	Chr1:119915380	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a NOTCH2 point mutation Hajdu-Cheney syndrome Inborn genetic diseases Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications	CA1039282	rs_764210725	4 SubmittersRCV000731226 RCV002507295 RCV003353010 RCV003633539
NM_000214.3(JAG1):c.3153C>T (p.Ala1051=)	SNV Germline	Chr20:10640829	Conflicting classifications of pathogenicity	Condition: not provided Isolated Nonsyndromic Congenital Heart Disease Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9764269	rs_754593633	4 SubmittersRCV000731414 RCV001138114 RCV001479945 RCV002325447
NM_000214.3(JAG1):c.2304C>T (p.Cys768=)	SNV Germline	Chr20:10644903	Conflicting classifications of pathogenicity	Condition: not provided Isolated Nonsyndromic Congenital Heart Disease Alagille syndrome due to a JAG1 point mutation	Criteria Provided Conflicting Classifications	CA9764560	rs_755427292	3 SubmittersRCV000731651 RCV001142961 RCV001484575
NM_000214.3(JAG1):c.915G>A (p.Pro305=)	SNV Germline	Chr20:10652222	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9765012	rs_371165309	3 SubmittersRCV000731774 RCV002061005 RCV003303216
NM_000214.3(JAG1):c.1348+3G>A	SNV Germline	Chr20:10649519	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation JAG1-related disorder Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9764913	rs_368718180	4 SubmittersRCV000731970 RCV001078955 RCV004547932 RCV004629317
NM_000214.3(JAG1):c.2148C>T (p.Asn716=)	SNV Germline	Chr20:10645222	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype JAG1-related disorder	Criteria Provided Conflicting Classifications	CA9764616	rs_550565756	4 SubmittersRCV000732290 RCV002067128 RCV003303217 RCV004547933
NM_000214.3(JAG1):c.3001G>A (p.Ala1001Thr)	SNV Germline	Chr20:10641160	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation JAG1-related disorder	Criteria Provided Conflicting Classifications	CA9764329	rs_200593413	3 SubmittersRCV000732496 RCV002067131 RCV004547935
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_024408.4(NOTCH2):c.5177G>A (p.Arg1726His)	SNV Germline	Chr1:119922272	Conflicting classifications of pathogenicity	Condition: not provided NOTCH2-related disorder Hajdu-Cheney syndrome Alagille syndrome due to a NOTCH2 point mutation	Criteria Provided Conflicting Classifications	CA341886729	rs_1557804884	4 SubmittersRCV000733343 RCV003396310 RCV001868985 RCV004564463
NM_000214.3(JAG1):c.2877G>A (p.Ala959=)	SNV Germline	Chr20:10641499	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9764374	rs_142085300	3 SubmittersRCV000734251 RCV001487472 RCV002440581
NM_000214.3(JAG1):c.1865C>T (p.Thr622Met)	SNV Germline	Chr20:10646959	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9764737	rs_764089304	3 SubmittersRCV000734571 RCV001417396 RCV002406672
NM_000214.3(JAG1):c.489C>T (p.Pro163=)	SNV Germline	Chr20:10658673	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation JAG1-related disorder Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9765121	rs_376298235	4 SubmittersRCV000734572 RCV003509596 RCV004547939 RCV004993987
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.1443C>T (p.Gly481=)	SNV Germline	Chr20:10648675	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a JAG1 point mutation	Criteria Provided Conflicting Classifications	CA311347251	rs_879921003	2 SubmittersRCV000734815 RCV001051725
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_000214.3(JAG1):c.3038A>T (p.His1013Leu)	SNV Germline	Chr20:10641123	Conflicting classifications of pathogenicity	Condition: not provided Isolated Nonsyndromic Congenital Heart Disease Alagille syndrome due to a JAG1 point mutation JAG1-related disorder	Criteria Provided Conflicting Classifications	CA9764321	rs_758687380	4 SubmittersRCV000734933 RCV001138116 RCV001399659 RCV004740440
NM_024408.4(NOTCH2):c.5431C>T (p.Gln1811Ter)	SNV Germline	Chr1:119920277	Likely pathogenic	Alagille syndrome due to a NOTCH2 point mutation	No Assertion Criteria Provided	CA341885445	rs_1557804111	1 SubmittersRCV000735810
NM_024408.4(NOTCH2):c.4304G>A (p.Arg1435Gln)	SNV Germline	Chr1:119925512	Conflicting classifications of pathogenicity	Hajdu-Cheney syndrome Alagille syndrome due to a NOTCH2 point mutation Hajdu-Cheney syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1039874	rs_747190078	3 SubmittersRCV000823875 RCV005021258 RCV005251231
NM_000214.3(JAG1):c.2532T>A (p.Cys844Ter)	SNV Germline	Chr20:10642528	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408245549	rs_1600179855	1 SubmittersRCV000811911
NM_000214.3(JAG1):c.1977G>A (p.Trp659Ter)	SNV Germline	Chr20:10645993	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408235695	rs_1600182107	1 SubmittersRCV000823654
NM_000214.3(JAG1):c.1375C>T (p.Gln459Ter)	SNV Germline	Chr20:10649081	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408238003	rs_1289016419	1 SubmittersRCV000823114
NM_000214.3(JAG1):c.1057G>T (p.Glu353Ter)	SNV Germline	Chr20:10651644	Pathogenic	Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA408238769	rs_1600185499	2 SubmittersRCV000792631 RCV002397567
NM_000214.3(JAG1):c.238A>T (p.Lys80Ter)	SNV Germline	Chr20:10672850	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408243131	rs_1600196443	1 SubmittersRCV000819337
NM_000214.3(JAG1):c.142G>T (p.Glu48Ter)	SNV Germline	Chr20:10672946	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408243665	rs_1600196580	1 SubmittersRCV000793200
NM_024408.4(NOTCH2):c.5644C>T (p.His1882Tyr)	SNV Germline	Chr1:119919449	Pathogenic	Alagille syndrome due to a NOTCH2 point mutation	No Assertion Criteria Provided	CA341884407	rs_1570658378	1 SubmittersRCV000845111
NM_024408.4(NOTCH2):c.5222C>T (p.Ser1741Leu)	SNV Germline	Chr1:119921801	Pathogenic	Alagille syndrome due to a NOTCH2 point mutation	No Assertion Criteria Provided	CA341886532	rs_1570660422	1 SubmittersRCV000845110
NM_000214.3(JAG1):c.48C>A (p.Leu16=)	SNV Germline	Chr20:10673483	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Isolated Nonsyndromic Congenital Heart Disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA311357562	rs_901489977	3 SubmittersRCV000870528 RCV001138743 RCV003307634
NM_024408.4(NOTCH2):c.85C>T (p.Arg29Ter)	SNV Germline	Chr1:120029976	Conflicting classifications of pathogenicity	Hajdu-Cheney syndrome Condition: not provided Alagille syndrome due to a NOTCH2 point mutation	Criteria Provided Conflicting Classifications	CA341849570	rs_1174406807	3 SubmittersRCV000986404 RCV001312091 RCV003313982
NM_000214.3(JAG1):c.886+1G>A	SNV Unknown	Chr20:10652467	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408239186	rs_1600186024	1 SubmittersRCV000990290
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.2767G>A (p.Asp923Asn)	SNV Germline	Chr20:10641609	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9764399	rs_775240101	2 SubmittersRCV001066148 RCV003160544
NM_000214.3(JAG1):c.2087G>A (p.Gly696Glu)	SNV Germline	Chr20:10645382	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9764657	rs_780243244	2 SubmittersRCV001068197 RCV002418552
NM_000214.3(JAG1):c.1756G>A (p.Asp586Asn)	SNV Germline	Chr20:10647068	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA9764755	rs_762348061	3 SubmittersRCV001064500 RCV002411585 RCV005436978
NM_000214.3(JAG1):c.1720G>T (p.Val574Leu)	SNV Germline	Chr20:10647960	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408236696	rs_2067320699	1 SubmittersRCV001035535
NM_000214.3(JAG1):c.1232T>A (p.Leu411Ter)	SNV Germline	Chr20:10650249	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408238366	rs_2067336398	1 SubmittersRCV001057664
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.3179G>A (p.Arg1060Gln)	SNV Germline	Chr20:10640803	Conflicting classifications of pathogenicity	Isolated Nonsyndromic Congenital Heart Disease Cardiovascular phenotype Alagille syndrome due to a JAG1 point mutation	Criteria Provided Conflicting Classifications	CA9764265	rs_773538545	3 SubmittersRCV001138111 RCV004032318 RCV003509653
NM_000214.3(JAG1):c.3154G>A (p.Val1052Ile)	SNV Germline	Chr20:10640828	Conflicting classifications of pathogenicity	Isolated Nonsyndromic Congenital Heart Disease Cardiovascular phenotype not specified Alagille syndrome due to a JAG1 point mutation	Criteria Provided Conflicting Classifications	CA9764268	rs_375200637	4 SubmittersRCV001138113 RCV002320371 RCV005236632 RCV001856763
NM_000214.3(JAG1):c.2979C>T (p.Ser993=)	SNV Germline	Chr20:10641182	Conflicting classifications of pathogenicity	Isolated Nonsyndromic Congenital Heart Disease Alagille syndrome due to a JAG1 point mutation JAG1-related disorder Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9764335	rs_542976402	4 SubmittersRCV001138545 RCV001488813 RCV004548014 RCV002436721
NM_000214.3(JAG1):c.2665C>T (p.Arg889Trp)	SNV Germline	Chr20:10641800	Conflicting classifications of pathogenicity	Isolated Nonsyndromic Congenital Heart Disease Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype JAG1-related disorder	Criteria Provided Conflicting Classifications	CA9764425	rs_765431150	4 SubmittersRCV001141106 RCV002032345 RCV003353171 RCV004548019
NM_000214.3(JAG1):c.2527C>T (p.Arg843Trp)	SNV Germline	Chr20:10642533	Conflicting classifications of pathogenicity	Isolated Nonsyndromic Congenital Heart Disease Cardiovascular phenotype Alagille syndrome due to a JAG1 point mutation	Criteria Provided Conflicting Classifications	CA9764476	rs_201608372	3 SubmittersRCV001141108 RCV002451338 RCV002032346
NM_000214.3(JAG1):c.2360G>A (p.Ser787Asn)	SNV Germline	Chr20:10644369	Conflicting classifications of pathogenicity	Isolated Nonsyndromic Congenital Heart Disease Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9764526	rs_761640153	3 SubmittersRCV001141111 RCV001309107 RCV004994263
NM_000214.3(JAG1):c.1659G>T (p.Glu553Asp)	SNV Germline	Chr20:10648021	Conflicting classifications of pathogenicity	Isolated Nonsyndromic Congenital Heart Disease Alagille syndrome due to a JAG1 point mutation JAG1-related disorder Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA408236835	rs_1337206941	4 SubmittersRCV001138227 RCV001856770 RCV004548013 RCV004032320
NM_000214.3(JAG1):c.1377G>C (p.Gln459His)	SNV Germline	Chr20:10649079	Conflicting classifications of pathogenicity	Isolated Nonsyndromic Congenital Heart Disease Alagille syndrome due to a JAG1 point mutation	Criteria Provided Conflicting Classifications	CA9764889	rs_762746994	2 SubmittersRCV001138647 RCV001314656
NM_000214.3(JAG1):c.1023C>T (p.Leu341=)	SNV Germline	Chr20:10651678	Conflicting classifications of pathogenicity	Isolated Nonsyndromic Congenital Heart Disease Alagille syndrome due to a JAG1 point mutation	Criteria Provided Conflicting Classifications	CA509661818	rs_1297627471	2 SubmittersRCV001138648 RCV002559337
NM_000214.3(JAG1):c.1015G>T (p.Ala339Ser)	SNV Germline	Chr20:10651686	Conflicting classifications of pathogenicity	Isolated Nonsyndromic Congenital Heart Disease Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9764988	rs_751516838	3 SubmittersRCV001141224 RCV001338524 RCV003163312
NM_000214.3(JAG1):c.303C>T (p.Val101=)	SNV Germline	Chr20:10672785	Conflicting classifications of pathogenicity	Isolated Nonsyndromic Congenital Heart Disease Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA509816786	rs_1212837838	3 SubmittersRCV001138322 RCV003117782 RCV005582550
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.439+9C>T	SNV Germline	Chr20:10663954	Conflicting classifications of pathogenicity	Isolated Nonsyndromic Congenital Heart Disease Alagille syndrome due to a JAG1 point mutation JAG1-related disorder	Criteria Provided Conflicting Classifications	CA9765138	rs_374350782	4 SubmittersRCV001143066 RCV001481233 RCV004548025
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_024408.4(NOTCH2):c.5684G>A (p.Arg1895His)	SNV Germline	Chr1:119919409	Conflicting classifications of pathogenicity	Hajdu-Cheney syndrome Alagille syndrome due to a NOTCH2 point mutation Hajdu-Cheney syndrome not specified	Criteria Provided Conflicting Classifications	CA1039585	rs_201996575	3 SubmittersRCV001224894 RCV002484219 RCV003987800
NM_000214.3(JAG1):c.1720G>C (p.Val574Leu)	SNV Germline	Chr20:10647960	Pathogenic	Alagille syndrome due to a JAG1 point mutation JAG1-related disorder	Criteria Provided Single Submitter	CA408236697	rs_2067320699	2 SubmittersRCV001219403 RCV004548074
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_000214.3(JAG1):c.1657G>T (p.Glu553Ter)	SNV Germline	Chr20:10648023	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408236840	rs_759763539	1 SubmittersRCV001212752
NM_000214.3(JAG1):c.3566C>T (p.Thr1189Met)	SNV Germline	Chr20:10639589	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype JAG1-related disorder	Criteria Provided Conflicting Classifications	CA311367261	rs_997363236	3 SubmittersRCV001238244 RCV004629513 RCV004740624
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.2990C>G (p.Ser997Ter)	SNV Germline	Chr20:10641171	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408244506	rs_2067268487	1 SubmittersRCV001230121
NM_000214.3(JAG1):c.2287G>A (p.Gly763Ser)	SNV Germline	Chr20:10644920	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9764565	rs_746939887	2 SubmittersRCV001226966 RCV002447141
NM_000214.3(JAG1):c.1102G>A (p.Gly368Ser)	SNV Germline	Chr20:10651599	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9764981	rs_372558458	2 SubmittersRCV001231397 RCV005582614
NM_024408.4(NOTCH2):c.3406C>G (p.Gln1136Glu)	SNV Germline	Chr1:119937398	Conflicting classifications of pathogenicity	Hajdu-Cheney syndrome Alagille syndrome due to a NOTCH2 point mutation NOTCH2-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA341852061	rs_1553195867	4 SubmittersRCV001246620 RCV002282499 RCV004740631 RCV004960648
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_000214.3(JAG1):c.388-2A>C	SNV Germline	Chr20:10664016	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408242192	rs_2067434947	1 SubmittersRCV001238101
NM_000214.3(JAG1):c.82-1G>C	SNV Germline	Chr20:10673007	Likely pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408243954	rs_2067508256	1 SubmittersRCV001248635
NM_000214.3(JAG1):c.2914C>G (p.Pro972Ala)	SNV Germline	Chr20:10641462	Likely pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408244693	rs_2067270959	1 SubmittersRCV001281184
NM_000214.3(JAG1):c.2579G>A (p.Gly860Glu)	SNV Germline	Chr20:10641886	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9764446	rs_762121866	3 SubmittersRCV001253045 RCV005348403
NM_000214.3(JAG1):c.588C>A (p.Cys196Ter)	SNV Unknown	Chr20:10658574	Likely pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408240159	rs_1801138	1 SubmittersRCV001281362
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.2752A>G (p.Ile918Val)	SNV Germline	Chr20:10641624	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA311368801	rs_773431867	2 SubmittersRCV001308696 RCV003294247
NM_000214.3(JAG1):c.2333T>C (p.Ile778Thr)	SNV Germline	Chr20:10644874	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9764555	rs_767504037	2 SubmittersRCV001297586 RCV004994386
NM_000214.3(JAG1):c.1706C>T (p.Thr569Met)	SNV Germline	Chr20:10647974	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9764789	rs_368438076	3 SubmittersRCV001300968 RCV004036186
NM_024408.4(NOTCH2):c.6125T>C (p.Met2042Thr)	SNV Germline	Chr1:119916597	Pathogenic	Alagille syndrome due to a NOTCH2 point mutation	Criteria Provided Single Submitter	CA341880783	rs_1649084282	1 SubmittersRCV001310089
NM_024408.4(NOTCH2):c.2785G>A (p.Gly929Arg)	SNV Germline	Chr1:119941722	Conflicting classifications of pathogenicity	Hajdu-Cheney syndrome NOTCH2-related disorder Inborn genetic diseases Alagille syndrome due to a NOTCH2 point mutation Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications	CA1040199	rs_199585130	4 SubmittersRCV001316334 RCV003399093 RCV004034391 RCV002476472
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.2372+1G>T	SNV Unknown	Chr20:10644356	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408234755	rs_2067293664	1 SubmittersRCV001329703
NM_024408.4(NOTCH2):c.2587C>T (p.Pro863Ser)	SNV Germline	Chr1:119949019	Likely pathogenic	Alagille syndrome due to a NOTCH2 point mutation	Criteria Provided Single Submitter	CA341858886	rs_1650362306	1 SubmittersRCV001336624
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.2552G>A (p.Ser851Asn)	SNV Germline	Chr20:10642508	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA408245503	rs_1211288472	2 SubmittersRCV001367359 RCV004037005
NM_000214.3(JAG1):c.2042C>T (p.Thr681Met)	SNV Germline	Chr20:10645427	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9764663	rs_772675011	2 SubmittersRCV001362843 RCV002420794
NM_000214.3(JAG1):c.1475C>T (p.Ala492Val)	SNV Germline	Chr20:10648643	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype JAG1-related disorder	Criteria Provided Conflicting Classifications	CA9764836	rs_200250528	3 SubmittersRCV001364173 RCV002395817 RCV004550087
NM_000214.3(JAG1):c.2732G>A (p.Cys911Tyr)	SNV Germline	Chr20:10641644	Likely pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408245094	rs_1555827782	1 SubmittersRCV001376921
NM_000214.3(JAG1):c.1720+1G>C	SNV Germline	Chr20:10647959	Likely pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408236694	rs_2122607604	1 SubmittersRCV001376996
NM_000214.3(JAG1):c.3049-2A>G	SNV Germline	Chr20:10640935	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408244383	rs_2122595262	1 SubmittersRCV001383277
NM_000214.3(JAG1):c.2917-1G>T	SNV Germline	Chr20:10641245	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408244677	rs_2122595945	1 SubmittersRCV001385742
NM_000214.3(JAG1):c.1779T>A (p.Tyr593Ter)	SNV Germline	Chr20:10647045	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408236166	rs_2122606277	1 SubmittersRCV001383128
NM_000214.3(JAG1):c.1308C>A (p.Cys436Ter)	SNV Germline	Chr20:10649562	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408238176	rs_764485729	1 SubmittersRCV001387935
NM_000214.3(JAG1):c.682G>T (p.Glu228Ter)	SNV Germline	Chr20:10658480	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408239911	rs_1286744339	1 SubmittersRCV001388474
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_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.2242T>C (p.Cys748Arg)	SNV Germline	Chr20:10644965	Likely pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408235052	rs_2122602509	1 SubmittersRCV001796554
NM_000214.3(JAG1):c.2358C>A (p.Cys786Ter)	SNV Germline	Chr20:10644371	Pathogenic	Alagille syndrome due to a JAG1 point mutation	No Assertion Criteria Provided	CA408234792	rs_1189479619	1 SubmittersRCV001580380
NM_024408.4(NOTCH2):c.5624G>A (p.Arg1875Gln)	SNV Germline	Chr1:119919469	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a NOTCH2 point mutation Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications	CA1039591	rs_148613210	3 SubmittersRCV001758446 RCV002282575 RCV002540407
NM_000214.3(JAG1):c.1007-2A>G	SNV Germline	Chr20:10651696	Pathogenic	Alagille syndrome due to a JAG1 point mutation	No Assertion Criteria Provided	CA408238893	rs_2122613705	1 SubmittersRCV001771819
NM_024408.4(NOTCH2):c.6586C>T (p.Gln2196Ter)	SNV Unknown	Chr1:119916136	Likely pathogenic	Alagille syndrome due to a NOTCH2 point mutation Hajdu-Cheney syndrome	Criteria Provided Single Submitter	CA341877406	rs_2101143618	1 SubmittersRCV001799543
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.2650C>T (p.Gln884Ter)	SNV Germline	Chr20:10641815	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Multiple Submitters No Conflicts	CA408245278	rs_2122597239	2 SubmittersRCV001807916
NM_000214.3(JAG1):c.1794C>T (p.Val598=)	SNV Germline	Chr20:10647030	Conflicting classifications of pathogenicity	not specified Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA311346533	rs_200580391	3 SubmittersRCV001817381 RCV002542528 RCV004996020
NM_000214.3(JAG1):c.1653C>A (p.Cys551Ter)	SNV Germline	Chr20:10648027	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408236848	rs_2122607772	1 SubmittersRCV001837375
NM_000214.3(JAG1):c.2863C>T (p.Gln955Ter)	SNV Germline	Chr20:10641513	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408244811	rs_2122596452	1 SubmittersRCV001902789
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.2687G>T (p.Trp896Leu)	SNV Germline	Chr20:10641689	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA408245186	rs_1227203387	3 SubmittersRCV001925525 RCV004762243 RCV005370033
NM_024408.4(NOTCH2):c.5423C>T (p.Thr1808Ile)	SNV Germline	Chr1:119920285	Conflicting classifications of pathogenicity	Hajdu-Cheney syndrome Alagille syndrome due to a NOTCH2 point mutation Hajdu-Cheney syndrome NOTCH2-related disorder not specified	Criteria Provided Conflicting Classifications	CA1039641	rs_144085962	5 SubmittersRCV001894410 RCV002506898 RCV004741101 RCV004526870
NM_000214.3(JAG1):c.3083T>G (p.Ile1028Ser)	SNV Germline	Chr20:10640899	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA408244241	rs_761187116	2 SubmittersRCV001907267 RCV003355575
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.2627G>A (p.Trp876Ter)	SNV Germline	Chr20:10641838	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408245334	rs_2122597289	1 SubmittersRCV001890870
NM_000214.3(JAG1):c.1666G>T (p.Glu556Ter)	SNV Germline	Chr20:10648014	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408236819	rs_2122607723	1 SubmittersRCV001950790
NM_000214.3(JAG1):c.95C>A (p.Ser32Ter)	SNV Germline	Chr20:10672993	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Multiple Submitters No Conflicts	CA408243880	rs_2122644940	2 SubmittersRCV001908477
NM_000214.3(JAG1):c.2733C>G (p.Cys911Trp)	SNV Germline	Chr20:10641643	Likely pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408245091	rs_1411780867	1 SubmittersRCV002010651
NM_024408.4(NOTCH2):c.881T>A (p.Phe294Tyr)	SNV Germline	Chr1:119969738	Conflicting classifications of pathogenicity	Hajdu-Cheney syndrome Alagille syndrome due to a NOTCH2 point mutation Hajdu-Cheney syndrome Inborn genetic diseases NOTCH2-related disorder	Criteria Provided Conflicting Classifications	CA1040652	rs_369664394	4 SubmittersRCV002008615 RCV002492249 RCV005445543 RCV004741179
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_024408.4(NOTCH2):c.2636C>T (p.Ser879Phe)	SNV Germline	Chr1:119948530	Conflicting classifications of pathogenicity	Hajdu-Cheney syndrome Alagille syndrome due to a NOTCH2 point mutation Hajdu-Cheney syndrome NOTCH2-related disorder	Criteria Provided Conflicting Classifications	CA30288057	rs_1004494435	3 SubmittersRCV001916783 RCV005031898 RCV003978420
NM_000214.3(JAG1):c.1878C>A (p.Cys626Ter)	SNV Germline	Chr20:10646946	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408235943	rs_2122606113	1 SubmittersRCV001942649
NM_000214.3(JAG1):c.984T>G (p.Tyr328Ter)	SNV Germline	Chr20:10652153	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408238949	rs_2122614368	1 SubmittersRCV001997021
NM_000214.3(JAG1):c.2632G>A (p.Asp878Asn)	SNV Germline	Chr20:10641833	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9764431	rs_750102792	2 SubmittersRCV001903469 RCV004042644
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_024408.4(NOTCH2):c.2501T>G (p.Leu834Trp)	SNV Germline	Chr1:119949105	Conflicting classifications of pathogenicity	Hajdu-Cheney syndrome Hajdu-Cheney syndrome Alagille syndrome due to a NOTCH2 point mutation Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1040260	rs_376526633	3 SubmittersRCV001989871 RCV002484783 RCV005374947
NM_000214.3(JAG1):c.622G>T (p.Gly208Ter)	SNV Germline	Chr20:10658540	Pathogenic	Alagille syndrome due to a JAG1 point mutation Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA408240055	rs_2122623590	2 SubmittersRCV002049610 RCV002254359
NM_000214.3(JAG1):c.3290G>A (p.Arg1097Gln)	SNV Germline	Chr20:10639865	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype Retinal dystrophy	Criteria Provided Conflicting Classifications	CA408243487	rs_1462490364	3 SubmittersRCV001928796 RCV002324343 RCV004816769
NM_000214.3(JAG1):c.3100A>T (p.Lys1034Ter)	SNV Germline	Chr20:10640882	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408244177	rs_2122595154	1 SubmittersRCV001893572
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.2528G>A (p.Arg843Gln)	SNV Germline	Chr20:10642532	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9764475	rs_751448440	2 SubmittersRCV002034950 RCV002458637
NM_000214.3(JAG1):c.2458+2T>G	SNV Germline	Chr20:10643776	Likely pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408234544	rs_2122600427	1 SubmittersRCV001994181
NM_000214.3(JAG1):c.2980G>A (p.Ala994Thr)	SNV Germline	Chr20:10641181	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9764334	rs_750273506	2 SubmittersRCV001938935 RCV004041896
NM_000214.3(JAG1):c.756-1G>C	SNV Germline	Chr20:10652599	Likely pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408239496	rs_1568798388	1 SubmittersRCV002016997
NM_000214.3(JAG1):c.936T>A (p.Cys312Ter)	SNV Germline	Chr20:10652201	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408239066	rs_2122614453	1 SubmittersRCV001894150
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.2412C>A (p.Tyr804Ter)	SNV Germline	Chr20:10643824	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408234652	rs_2122600550	1 SubmittersRCV001956444
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.2209G>T (p.Gly737Ter)	SNV Germline	Chr20:10645161	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408235138	rs_2122602893	1 SubmittersRCV001904678
NM_024408.4(NOTCH2):c.1113C>G (p.Leu371=)	SNV Germline	Chr1:119968228	Conflicting classifications of pathogenicity	Hajdu-Cheney syndrome Alagille syndrome due to a NOTCH2 point mutation Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications	CA420038913	rs_782323295	2 SubmittersRCV001941515 RCV005031957
NM_000214.3(JAG1):c.783C>G (p.Tyr261Ter)	SNV Germline	Chr20:10652571	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408239430	rs_2122615158	1 SubmittersRCV001901512
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.1775G>A (p.Arg592Gln)	SNV Germline	Chr20:10647049	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA408236175	rs_1436726865	2 SubmittersRCV002047497 RCV004996036
NM_000214.3(JAG1):c.2200G>A (p.Gly734Ser)	SNV Germline	Chr20:10645170	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9764607	rs_199561320	3 SubmittersRCV001883888 RCV002224104 RCV005584929
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_024408.4(NOTCH2):c.4511+7G>T	SNV Germline	Chr1:119925298	Conflicting classifications of pathogenicity	Hajdu-Cheney syndrome Alagille syndrome due to a NOTCH2 point mutation Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications	CA1039854	rs_778914409	2 SubmittersRCV002154204 RCV005025715
NM_000214.3(JAG1):c.3522G>A (p.Pro1174=)	SNV Germline	Chr20:10639633	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA509816237	rs_1413360004	3 SubmittersRCV002115652 RCV003138080 RCV004046275
NM_000214.3(JAG1):c.2596A>G (p.Met866Val)	SNV Germline	Chr20:10641869	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Condition: not provided	Criteria Provided Conflicting Classifications	CA9764439	rs_746108409	2 SubmittersRCV002071249 RCV003438913
NM_000214.3(JAG1):c.3007G>T (p.Glu1003Ter)	SNV Germline	Chr20:10641154	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408244474	rs_781509375	1 SubmittersRCV002244289
NM_000214.3(JAG1):c.203G>C (p.Arg68Pro)	SNV Germline	Chr20:10672885	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Alagille syndrome due to a JAG1 point mutation	Criteria Provided Conflicting Classifications	CA311357358	rs_892275570	3 SubmittersRCV002247908 RCV004045187 RCV003101328
NM_000214.3(JAG1):c.2458+1G>A	SNV Germline	Chr20:10643777	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408234548	rs_2122600431	1 SubmittersRCV002250059
NM_024408.4(NOTCH2):c.2642C>T (p.Pro881Leu)	SNV Germline	Chr1:119948524	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome Alagille syndrome due to a NOTCH2 point mutation Hajdu-Cheney syndrome NOTCH2-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1040231	rs_782728045	5 SubmittersRCV002261859 RCV002496195 RCV003095903 RCV003395436 RCV004958514
NM_024408.4(NOTCH2):c.5930-2A>G	SNV Germline	Chr1:119917764	Pathogenic	Alagille syndrome due to a NOTCH2 point mutation	No Assertion Criteria Provided	CA341882147	rs_2526112913	1 SubmittersRCV002280379
NM_000214.3(JAG1):c.771G>A (p.Trp257Ter)	SNV Germline	Chr20:10652583	Pathogenic	Condition: not provided Alagille syndrome due to a JAG1 point mutation	Criteria Provided Multiple Submitters No Conflicts	CA311349844	rs_868134621	2 SubmittersRCV002280566 RCV003619761
NM_000214.3(JAG1):c.702C>A (p.Cys234Ter)	SNV Unknown	Chr20:10656451	Likely pathogenic	Alagille syndrome due to a JAG1 point mutation	No Assertion Criteria Provided	CA408239853	rs_202109974	1 SubmittersRCV002285223
NM_000214.3(JAG1):c.3097G>A (p.Asp1033Asn)	SNV Germline	Chr20:10640885	Conflicting classifications of pathogenicity	Cardiovascular phenotype Alagille syndrome due to a JAG1 point mutation	Criteria Provided Conflicting Classifications	CA9764281	rs_772228887	2 SubmittersRCV002325866 RCV003099191
NM_000214.3(JAG1):c.3209T>C (p.Val1070Ala)	SNV Germline	Chr20:10639946	Conflicting classifications of pathogenicity	Cardiovascular phenotype Alagille syndrome due to a JAG1 point mutation	Criteria Provided Conflicting Classifications	CA9764247	rs_374654050	2 SubmittersRCV002323033 RCV005058278
NM_000214.3(JAG1):c.3503C>G (p.Ala1168Gly)	SNV Germline	Chr20:10639652	Conflicting classifications of pathogenicity	Cardiovascular phenotype Alagille syndrome due to a JAG1 point mutation	Criteria Provided Conflicting Classifications	CA9764201	rs_375431219	2 SubmittersRCV002459160 RCV003619767
NM_000214.3(JAG1):c.3124C>T (p.Arg1042Cys)	SNV Germline	Chr20:10640858	Conflicting classifications of pathogenicity	Cardiovascular phenotype Alagille syndrome due to a JAG1 point mutation JAG1-related disorder	Criteria Provided Conflicting Classifications	CA311368067	rs_778801776	3 SubmittersRCV002320515 RCV003099218 RCV004548273
NM_000214.3(JAG1):c.1274A>G (p.Lys425Arg)	SNV Germline	Chr20:10649596	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9764922	rs_780939183	2 SubmittersRCV003100118 RCV002450050
NM_000214.3(JAG1):c.1438G>T (p.Ala480Ser)	SNV Germline	Chr20:10648680	Conflicting classifications of pathogenicity	Cardiovascular phenotype Alagille syndrome due to a JAG1 point mutation JAG1-related disorder	Criteria Provided Conflicting Classifications	CA311347258	rs_144557870	3 SubmittersRCV002394310 RCV003103692 RCV004548290
NM_000214.3(JAG1):c.182C>T (p.Pro61Leu)	SNV Germline	Chr20:10672906	Conflicting classifications of pathogenicity	Cardiovascular phenotype Alagille syndrome due to a JAG1 point mutation	Criteria Provided Conflicting Classifications	CA9765201	rs_199603948	2 SubmittersRCV002410514 RCV003774520
NM_000214.3(JAG1):c.2665C>G (p.Arg889Gly)	SNV Germline	Chr20:10641800	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9764424	rs_765431150	2 SubmittersRCV003102086 RCV002453135
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.2572+1G>T	SNV Germline	Chr20:10642487	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408245455	rs_2514510396	1 SubmittersRCV003064602
NM_000214.3(JAG1):c.1189A>T (p.Lys397Ter)	SNV Germline	Chr20:10650292	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408238461	rs_2514519179	1 SubmittersRCV003050552
NM_024408.4(NOTCH2):c.4355G>A (p.Gly1452Glu)	SNV Germline	Chr1:119925461	Conflicting classifications of pathogenicity	Hajdu-Cheney syndrome Alagille syndrome due to a NOTCH2 point mutation Hajdu-Cheney syndrome NOTCH2-related disorder	Criteria Provided Conflicting Classifications	CA1039867	rs_587650323	3 SubmittersRCV005019616 RCV003063019 RCV003892210
NM_000214.3(JAG1):c.566A>G (p.Asp189Gly)	SNV Germline	Chr20:10658596	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA408240246	rs_1362570122	2 SubmittersRCV003073783 RCV003171004
NM_000214.3(JAG1):c.1414C>T (p.Arg472Cys)	SNV Germline	Chr20:10648704	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA408237907	rs_1346269262	2 SubmittersRCV003068206 RCV004070323
NM_000214.3(JAG1):c.3302G>A (p.Ser1101Asn)	SNV Germline	Chr20:10639853	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype JAG1-related disorder	Criteria Provided Conflicting Classifications	CA9764228	rs_377617900	3 SubmittersRCV002585054 RCV003161859 RCV004550408
NM_000214.3(JAG1):c.3505C>T (p.Arg1169Trp)	SNV Germline	Chr20:10639650	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA408242702	rs_368162343	2 SubmittersRCV002637777 RCV004070795
NM_000214.3(JAG1):c.1822C>T (p.Gln608Ter)	SNV Germline	Chr20:10647002	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408236068	rs_979265484	1 SubmittersRCV002601847
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_024408.4(NOTCH2):c.2063C>T (p.Ser688Phe)	SNV Germline	Chr1:119955196	Conflicting classifications of pathogenicity	Hajdu-Cheney syndrome Hajdu-Cheney syndrome Alagille syndrome due to a NOTCH2 point mutation	Criteria Provided Conflicting Classifications	CA1040389	rs_371567728	2 SubmittersRCV002671175 RCV005025936
NM_000214.3(JAG1):c.795C>A (p.Cys265Ter)	SNV Germline	Chr20:10652559	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408239400	rs_2514521753	1 SubmittersRCV002828571
NM_000214.3(JAG1):c.1566T>A (p.Cys522Ter)	SNV Germline	Chr20:10648552	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408237246	rs_2514517120	1 SubmittersRCV002851779
NM_000214.3(JAG1):c.3178C>T (p.Arg1060Trp)	SNV Germline	Chr20:10640804	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9764266	rs_760992773	2 SubmittersRCV002890513 RCV004065976
NM_000214.3(JAG1):c.2114-2A>C	SNV Germline	Chr20:10645258	Likely pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408235367	rs_2514513412	1 SubmittersRCV002894532
NM_024408.4(NOTCH2):c.6699A>G (p.Pro2233=)	SNV Germline	Chr1:119916023	Conflicting classifications of pathogenicity	Hajdu-Cheney syndrome Alagille syndrome due to a NOTCH2 point mutation Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications	CA1039388	rs_780347544	2 SubmittersRCV002908111 RCV005019434
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_024408.4(NOTCH2):c.5024G>A (p.Arg1675His)	SNV Germline	Chr1:119922425	Conflicting classifications of pathogenicity	Hajdu-Cheney syndrome NOTCH2-related disorder Alagille syndrome due to a NOTCH2 point mutation Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications	CA1039731	rs_372916164	3 SubmittersRCV002957559 RCV003409972 RCV005019486
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_024408.4(NOTCH2):c.1787A>G (p.Asn596Ser)	SNV Germline	Chr1:119963702	Conflicting classifications of pathogenicity	Hajdu-Cheney syndrome Alagille syndrome due to a NOTCH2 point mutation Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications	CA1040457	rs_782709024	2 SubmittersRCV002966084 RCV005034515
NM_024408.4(NOTCH2):c.4115G>A (p.Arg1372Gln)	SNV Germline	Chr1:119925701	Conflicting classifications of pathogenicity	Alagille syndrome due to a NOTCH2 point mutation Hajdu-Cheney syndrome Hajdu-Cheney syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1039910	rs_587610159	3 SubmittersRCV005028110 RCV002996300 RCV005412463
NM_000214.3(JAG1):c.3001G>T (p.Ala1001Ser)	SNV Germline	Chr20:10641160	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA408244485	rs_200593413	2 SubmittersRCV002999542 RCV005585291
NM_000214.3(JAG1):c.2505T>A (p.Cys835Ter)	SNV Germline	Chr20:10642555	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408245610	rs_2514510500	1 SubmittersRCV003003027
NM_000214.3(JAG1):c.2572+1G>C	SNV Germline	Chr20:10642487	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408245456	rs_2514510396	1 SubmittersRCV003006307
NM_000214.3(JAG1):c.3569C>T (p.Pro1190Leu)	SNV Germline	Chr20:10639586	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA408242477	rs_1334807463	2 SubmittersRCV003509774 RCV004224621
NM_000214.3(JAG1):c.3284A>G (p.Lys1095Arg)	SNV Germline	Chr20:10639871	Conflicting classifications of pathogenicity	Cardiovascular phenotype Alagille syndrome due to a JAG1 point mutation	Criteria Provided Conflicting Classifications	CA9764235	rs_748060377	2 SubmittersRCV003177418 RCV003509783
NM_000214.3(JAG1):c.695-1G>C	SNV Unknown	Chr20:10656459	Likely pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408239870	rs_2514524519	1 SubmittersRCV003315128
NM_000214.3(JAG1):c.2459-2A>G	SNV Unknown	Chr20:10642603	Likely pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408245719	rs_2514510557	1 SubmittersRCV003315191
NM_000214.3(JAG1):c.753C>A (p.Cys251Ter)	SNV Unknown	Chr20:10656400	Pathogenic	Alagille syndrome due to a JAG1 point mutation	No Assertion Criteria Provided	CA408239739	rs_2514524411	1 SubmittersRCV003493999
NM_024408.4(NOTCH2):c.6028-5T>A	SNV Germline	Chr1:119916699	Likely pathogenic	Alagille syndrome due to a NOTCH2 point mutation	Criteria Provided Single Submitter	CA2740097918	rs_1649088431	1 SubmittersRCV003991056
NM_024408.4(NOTCH2):c.1492T>C (p.Cys498Arg)	SNV Unknown	Chr1:119966451	Likely pathogenic	Alagille syndrome due to a NOTCH2 point mutation	Criteria Provided Single Submitter	CA341876700	rs_2526300230	1 SubmittersRCV003333374
NM_000214.3(JAG1):c.864G>A (p.Trp288Ter)	SNV Unknown	Chr20:10652490	Likely pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408239240	rs_2514521680	1 SubmittersRCV003333389
NM_000214.3(JAG1):c.2803G>A (p.Glu935Lys)	SNV Germline	Chr20:10641573	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation JAG1-related disorder Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9764391	rs_753161584	3 SubmittersRCV003511037 RCV004554250 RCV005363139
NM_024408.4(NOTCH2):c.1521G>T (p.Gly507=)	SNV Germline	Chr1:119966422	Conflicting classifications of pathogenicity	Hajdu-Cheney syndrome NOTCH2-related disorder Alagille syndrome due to a NOTCH2 point mutation Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications	CA420037287	rs_2526300115	3 SubmittersRCV003525056 RCV004738802 RCV005036875
NM_024408.4(NOTCH2):c.6131G>A (p.Arg2044His)	SNV Germline	Chr1:119916591	Conflicting classifications of pathogenicity	Hajdu-Cheney syndrome Alagille syndrome due to a NOTCH2 point mutation Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications	CA1039486	rs_145077404	2 SubmittersRCV003524877 RCV005014753
NM_000214.3(JAG1):c.1603C>T (p.Gln535Ter)	SNV Germline	Chr20:10648077	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408236966	rs_2514516680	1 SubmittersRCV003509032
NM_000214.3(JAG1):c.387+1G>A	SNV Germline	Chr20:10672700	Likely pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408242290	rs_2514537639	1 SubmittersRCV003509034
NM_000214.3(JAG1):c.2341C>T (p.Gln781Ter)	SNV Germline	Chr20:10644866	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408234841	rs_2514512834	1 SubmittersRCV003510208
NM_000214.3(JAG1):c.2683-1G>A	SNV Germline	Chr20:10641694	Likely pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408245200	rs_2514509368	1 SubmittersRCV003510425
NM_000214.3(JAG1):c.1263T>A (p.Cys421Ter)	SNV Germline	Chr20:10649607	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408238278	rs_1261578129	1 SubmittersRCV003620659
NM_000214.3(JAG1):c.760C>T (p.Gln254Ter)	SNV Germline	Chr20:10652594	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408239482	rs_2514521818	1 SubmittersRCV003620913
NM_000214.3(JAG1):c.3048+2T>A	SNV Germline	Chr20:10641111	Likely pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408244387	rs_2514508256	1 SubmittersRCV003620845
NM_000214.3(JAG1):c.1953C>A (p.Tyr651Ter)	SNV Germline	Chr20:10646017	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408235756	rs_2514514448	1 SubmittersRCV003620907
NM_000214.3(JAG1):c.1396-1G>A	SNV Germline	Chr20:10648723	Likely pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408237952	rs_2514517345	1 SubmittersRCV003620854
NM_024408.4(NOTCH2):c.5970G>A (p.Val1990=)	SNV Germline	Chr1:119917722	Conflicting classifications of pathogenicity	Hajdu-Cheney syndrome Hajdu-Cheney syndrome Alagille syndrome due to a NOTCH2 point mutation	Criteria Provided Conflicting Classifications	CA420035751	rs_2526112802	2 SubmittersRCV003634995 RCV005014850
NM_000214.3(JAG1):c.1437T>G (p.Tyr479Ter)	SNV Germline	Chr20:10648681	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408237859	rs_2067325167	1 SubmittersRCV003621289
NM_000214.3(JAG1):c.87T>A (p.Cys29Ter)	SNV Germline	Chr20:10673001	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408243923	rs_2514538159	1 SubmittersRCV003621390
NM_000214.3(JAG1):c.1569+1G>A	SNV Germline	Chr20:10648548	Likely pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408237212	rs_2514517119	1 SubmittersRCV003619411
NM_000214.3(JAG1):c.1427C>T (p.Pro476Leu)	SNV Germline	Chr20:10648691	Conflicting classifications of pathogenicity	Alagille syndrome due to a JAG1 point mutation Condition: not provided	Criteria Provided Conflicting Classifications	CA9764846	rs_148448920	2 SubmittersRCV003619619 RCV005422409
NM_024408.4(NOTCH2):c.1454-11G>T	SNV Germline	Chr1:119966500	Conflicting classifications of pathogenicity	Hajdu-Cheney syndrome Alagille syndrome due to a NOTCH2 point mutation Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications	CA1040540	rs_781975437	2 SubmittersRCV003822320 RCV005030281
NM_024408.4(NOTCH2):c.1278T>A (p.Pro426=)	SNV Germline	Chr1:119967608	Conflicting classifications of pathogenicity	Hajdu-Cheney syndrome Alagille syndrome due to a NOTCH2 point mutation Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications	CA420038295	rs_1553199845	2 SubmittersRCV003813784 RCV005038527
NM_000214.3(JAG1):c.1362C>A (p.Cys454Ter)	SNV Germline	Chr20:10649094	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408238033	rs_2514517862	1 SubmittersRCV003838020
NM_024408.4(NOTCH2):c.4194C>T (p.Tyr1398=)	SNV Germline	Chr1:119925622	Conflicting classifications of pathogenicity	Hajdu-Cheney syndrome Alagille syndrome due to a NOTCH2 point mutation Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications	CA420191155	rs_2101162618	2 SubmittersRCV003851313 RCV005015047
NM_000214.3(JAG1):c.1721-2A>T	SNV Germline	Chr20:10647105	Likely pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408236687	rs_2514515739	1 SubmittersRCV003885404
NM_000214.3(JAG1):c.1211G>A (p.Trp404Ter)	SNV Germline	Chr20:10650270	Likely pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408238414	rs_2514519130	1 SubmittersRCV003985953
NM_000214.3(JAG1):c.387+1G>C	SNV Germline	Chr20:10672700	Likely pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408242287	rs_2514537639	1 SubmittersRCV003986036
NM_000214.3(JAG1):c.496C>T (p.Gln166Ter)	SNV Germline	Chr20:10658666	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter	CA408240505	rs_2514526656	1 SubmittersRCV003989057
NM_024408.4(NOTCH2):c.273A>G (p.Arg91=)	SNV Germline	Chr1:120005471	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a NOTCH2 point mutation Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications	CA1040895	rs_201643251	2 SubmittersRCV004545996 RCV005023568
NM_000214.3(JAG1):c.73C>T (p.Arg25Ter)	SNV Germline	Chr20:10673458	Pathogenic	JAG1-related disorder Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter			2 SubmittersRCV004729915 RCV005103636
NM_000214.3(JAG1):c.396T>A (p.Tyr132Ter)	SNV Germline	Chr20:10664006	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter			1 SubmittersRCV004789887
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_024408.4(NOTCH2):c.416-2A>G	SNV Germline	Chr1:119997334	Likely pathogenic	Alagille syndrome due to a NOTCH2 point mutation Hajdu-Cheney syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005039083
NM_024408.4(NOTCH2):c.3813C>T (p.Asn1271=)	SNV Germline	Chr1:119929055	Conflicting classifications of pathogenicity	Alagille syndrome due to a NOTCH2 point mutation Hajdu-Cheney syndrome Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV005021002 RCV005112781
NM_024408.4(NOTCH2):c.1203C>T (p.Cys401=)	SNV Germline	Chr1:119968138	Conflicting classifications of pathogenicity	Alagille syndrome due to a NOTCH2 point mutation Hajdu-Cheney syndrome Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV005037261 RCV005063277
NM_024408.4(NOTCH2):c.2626G>T (p.Glu876Ter)	SNV Germline	Chr1:119948540	Likely pathogenic	Alagille syndrome due to a NOTCH2 point mutation Hajdu-Cheney syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005032791
NM_024408.4(NOTCH2):c.1310A>C (p.Asp437Ala)	SNV Germline	Chr1:119967576	Likely pathogenic	Alagille syndrome due to a NOTCH2 point mutation Hajdu-Cheney syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005603899
NM_000214.3(JAG1):c.439+1G>C	SNV Germline	Chr20:10663962	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter			1 SubmittersRCV005071932
NM_000214.3(JAG1):c.1602C>A (p.Cys534Ter)	SNV Germline	Chr20:10648078	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter			1 SubmittersRCV005129457
NM_000214.3(JAG1):c.1569+1G>T	SNV Germline	Chr20:10648548	Likely pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter			1 SubmittersRCV005116624
NM_000214.3(JAG1):c.1999+1G>A	SNV Germline	Chr20:10645970	Likely pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter			1 SubmittersRCV005124513
NM_000214.3(JAG1):c.1570-2A>T	SNV Germline	Chr20:10648112	Likely pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter			1 SubmittersRCV005132004
NM_000214.3(JAG1):c.416G>A (p.Trp139Ter)	SNV Germline	Chr20:10663986	Pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter			1 SubmittersRCV005198418
NM_024408.4(NOTCH2):c.3338-2A>G	SNV Germline	Chr1:119937468	Likely pathogenic	Alagille syndrome due to a NOTCH2 point mutation	No Assertion Criteria Provided			1 SubmittersRCV005414416
NM_000214.3(JAG1):c.1721-2A>G	SNV Germline	Chr20:10647105	Likely pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter			1 SubmittersRCV005622944
NM_000214.3(JAG1):c.2649C>A (p.Cys883Ter)	SNV Germline	Chr20:10641816	Likely pathogenic	Alagille syndrome due to a JAG1 point mutation	Criteria Provided Single Submitter			1 SubmittersRCV005622955

SNV
Germline

Chr20:10641459

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408244686

rs_1568791920

2 SubmittersRCV000008055

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_024408.4(NOTCH2):c.5930-1G>A

SNV
Germline

Chr1:119917763

Pathogenic

Alagille syndrome due to a NOTCH2 point mutation

No Assertion Criteria Provided

CA340896

rs_312262798

1 SubmittersRCV000009810

NM_024408.4(NOTCH2):c.1331G>A (p.Cys444Tyr)

SNV
Germline

Chr1:119967555

Pathogenic

Alagille syndrome due to a NOTCH2 point mutation

No Assertion Criteria Provided

CA340897

rs_111033632

1 SubmittersRCV000009811

NM_000214.3(JAG1):c.3583A>G (p.Asn1195Asp)

SNV
Germline

Chr20:10639572

Conflicting classifications of pathogenicity

not specified
Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA131303

rs_397515876

3 SubmittersRCV000035334 RCV001056389 RCV004018738

NM_024408.4(NOTCH2):c.3206G>A (p.Arg1069Gln)

SNV
Germline

Chr1:119937988

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hajdu-Cheney syndrome
Alagille syndrome due to a NOTCH2 point mutation
Inborn genetic diseases
NOTCH2-related disorder
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

CA161257

rs_146014987

6 SubmittersRCV000121715 RCV000725834 RCV000764962 RCV005372235 RCV003892113 RCV002515888

NM_024408.4(NOTCH2):c.6979A>G (p.Thr2327Ala)

SNV
Germline

Chr1:119915743

Conflicting classifications of pathogenicity

not specified
Hajdu-Cheney syndrome
Condition: not provided
NOTCH2-related disorder
Hajdu-Cheney syndrome
Alagille syndrome due to a NOTCH2 point mutation

Criteria Provided
Conflicting Classifications

CA161291

rs_587778578

5 SubmittersRCV000121732 RCV002517602 RCV000729463 RCV004739418 RCV002483225

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.601C>T (p.Arg201Cys)

SNV
Germline

Chr20:10658561

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
not specified
Condition: not provided
JAG1-related disorder

Criteria Provided
Conflicting Classifications

CA245082

rs_794727618

6 SubmittersRCV000697814 RCV001175471 RCV000178063 RCV004553002

NM_000214.3(JAG1):c.1101C>T (p.Thr367=)

SNV
Germline

Chr20:10651600

Conflicting classifications of pathogenicity

Condition: not provided
JAG1-related disorder
Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA247501

rs_766771784

4 SubmittersRCV000180112 RCV004553021 RCV002054143 RCV002426861

NM_000214.3(JAG1):c.806C>T (p.Pro269Leu)

SNV
Germline

Chr20:10652548

Conflicting classifications of pathogenicity

Inborn genetic diseases
Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Conflicting Classifications

CA204910

rs_797044956

2 SubmittersRCV000190813 RCV002514092

NM_000214.3(JAG1):c.2698C>T (p.Arg900Ter)

SNV
Germline

Chr20:10641678

Pathogenic

Atypical coarctation of aorta
Alagille syndrome due to a JAG1 point mutation
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA323731

rs_1555827789

3 SubmittersRCV000845198 RCV001384081 RCV002251338

NM_000214.3(JAG1):c.2322G>A (p.Trp774Ter)

SNV
Germline

Chr20:10644885

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA320857

rs_1555828173

2 SubmittersRCV000733387 RCV001853159

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_000214.3(JAG1):c.1826C>T (p.Ser609Leu)

SNV
Germline

Chr20:10646998

Conflicting classifications of pathogenicity

Condition: not provided
Isolated Nonsyndromic Congenital Heart Disease
Alagille syndrome due to a JAG1 point mutation
not specified
JAG1-related disorder

Criteria Provided
Conflicting Classifications

CA321634

rs_199505265

7 SubmittersRCV000197189 RCV000351515 RCV001062019 RCV002247622 RCV004553067

NM_000214.3(JAG1):c.1627C>T (p.Arg543Cys)

SNV
Germline

Chr20:10648053

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA324982

rs_375017114

3 SubmittersRCV000200413 RCV001054389

NM_000214.3(JAG1):c.1156G>A (p.Gly386Arg)

SNV
Germline

Chr20:10650325

Pathogenic/Likely pathogenic

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
JAG1-related disorder
Arteriohepatic dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA324344

rs_863223650

7 SubmittersRCV001529686 RCV000645012 RCV004553066 RCV005414324

NM_000214.3(JAG1):c.910C>T (p.Gln304Ter)

SNV
Germline

Chr20:10652227

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA322726

rs_863223649

2 SubmittersRCV000198219 RCV000817591

NM_000214.3(JAG1):c.439+1G>A

SNV
Germline

Chr20:10663962

Pathogenic

Condition: not provided
Atypical coarctation of aorta
JAG1-related disorder
Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Multiple Submitters
No Conflicts

CA324540

rs_863223648

7 SubmittersRCV000199991 RCV000845195 RCV004553065 RCV001853157

NM_000214.3(JAG1):c.3G>A (p.Met1Ile)

SNV
Germline

Chr20:10673528

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA322254

rs_1555831014

2 SubmittersRCV000728541 RCV001210761

NM_000214.3(JAG1):c.3048+1G>T

SNV
Germline

Chr20:10641112

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10577604

rs_876661121

4 SubmittersRCV000219290 RCV004576930

NM_000214.3(JAG1):c.2304C>A (p.Cys768Ter)

SNV
Germline

Chr20:10644903

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10577608

rs_755427292

2 SubmittersRCV000216570 RCV002519743

NM_000214.3(JAG1):c.2705G>C (p.Cys902Ser)

SNV
Germline

Chr20:10641671

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10577610

rs_876661122

2 SubmittersRCV000214606 RCV001236096

NM_000214.3(JAG1):c.2418C>A (p.Cys806Ter)

SNV
Germline

Chr20:10643818

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10577614

rs_533306015

2 SubmittersRCV000220022 RCV000468229

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.871C>T (p.Gln291Ter)

SNV
Germline

Chr20:10652483

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10577618

rs_876661096

2 SubmittersRCV000220558 RCV002516193

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.1720+5C>T

SNV
Germline

Chr20:10647955

Conflicting classifications of pathogenicity

not specified
Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Conflicting Classifications

CA9764786

rs_757230587

2 SubmittersRCV000253050 RCV005090255

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.2286C>T (p.Asn762=)

SNV
Germline

Chr20:10644921

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9764566

rs_144190443

4 SubmittersRCV000244899 RCV000734570 RCV001442516

NM_000214.3(JAG1):c.2778C>T (p.Phe926=)

SNV
Germline

Chr20:10641598

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Isolated Nonsyndromic Congenital Heart Disease
Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Conflicting Classifications

CA9764396

rs_147793030

8 SubmittersRCV000250492 RCV000263872 RCV001138548 RCV001083311

NM_000214.3(JAG1):c.814G>A (p.Val272Ile)

SNV
Germline

Chr20:10652540

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Alagille syndrome due to a JAG1 point mutation
JAG1-related disorder

Criteria Provided
Conflicting Classifications

CA9765043

rs_148990028

5 SubmittersRCV000244534 RCV000597837 RCV001081833 RCV004547640

NM_000214.3(JAG1):c.3048+1G>A

SNV
Germline

Chr20:10641112

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10588691

rs_876661121

3 SubmittersRCV000255615 RCV001859478

NM_024408.4(NOTCH2):c.6362A>G (p.Lys2121Arg)

SNV
Germline

Chr1:119916360

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome
Inborn genetic diseases
Alagille syndrome due to a NOTCH2 point mutation
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

CA1039440

rs_148393324

4 SubmittersRCV000276229 RCV002059111 RCV002519113 RCV005025419

NM_000214.3(JAG1):c.36C>A (p.Arg12=)

SNV
Germline

Chr20:10673495

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10604710

rs_886042810

2 SubmittersRCV000325023 RCV002519144

NM_024408.4(NOTCH2):c.6496T>C (p.Ser2166Pro)

SNV
Germline

Chr1:119916226

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome
Alagille syndrome due to a NOTCH2 point mutation

Criteria Provided
Conflicting Classifications

CA10604764

rs_886042848

2 SubmittersRCV000357190 RCV004725140

NM_000214.3(JAG1):c.1464C>T (p.Ile488=)

SNV
Germline

Chr20:10648654

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9764838

rs_374629171

2 SubmittersRCV000260075 RCV001502718

NM_024408.4(NOTCH2):c.5977A>G (p.Thr1993Ala)

SNV
Germline

Chr1:119917715

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a NOTCH2 point mutation
Hajdu-Cheney syndrome
Inborn genetic diseases
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

CA1039526

rs_779769077

4 SubmittersRCV000388266 RCV002487236 RCV005452970 RCV005090367

NM_000214.3(JAG1):c.1920C>T (p.Asn640=)

SNV
Germline

Chr20:10646050

Conflicting classifications of pathogenicity

Isolated Nonsyndromic Congenital Heart Disease
Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9764702

rs_372121353

4 SubmittersRCV000289604 RCV000321152 RCV001088552 RCV002411158

NM_000214.3(JAG1):c.841C>T (p.Gln281Ter)

SNV
Germline

Chr20:10652513

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10605712

rs_886043603

2 SubmittersRCV000342012 RCV000725977

NM_000214.3(JAG1):c.439C>T (p.Gln147Ter)

SNV
Germline

Chr20:10663963

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10605717

rs_886043606

4 SubmittersRCV000370816 RCV000725978 RCV004739659

NM_000214.3(JAG1):c.3329A>C (p.Asn1110Thr)

SNV
Germline

Chr20:10639826

Conflicting classifications of pathogenicity

Isolated Nonsyndromic Congenital Heart Disease
Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9764224

rs_150811951

5 SubmittersRCV000276199 RCV000726021 RCV001052188 RCV002321960

NM_000214.3(JAG1):c.3342C>T (p.Asn1114=)

SNV
Germline

Chr20:10639813

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9764220

rs_759853433

3 SubmittersRCV000376088 RCV002321963 RCV003619669

NM_000214.3(JAG1):c.2781C>T (p.Val927=)

SNV
Germline

Chr20:10641595

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
JAG1-related disorder

Criteria Provided
Conflicting Classifications

CA9764394

rs_746664646

4 SubmittersRCV000313708 RCV001089190 RCV002436121 RCV004549606

NM_000214.3(JAG1):c.3651C>T (p.Ile1217=)

SNV
Germline

Chr20:10639504

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Isolated Nonsyndromic Congenital Heart Disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9764166

rs_542831744

4 SubmittersRCV000343144 RCV001078752 RCV001141013 RCV003165767

NM_000214.3(JAG1):c.2329C>T (p.Pro777Ser)

SNV
Germline

Chr20:10644878

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Isolated Nonsyndromic Congenital Heart Disease
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9764557

rs_202063628

7 SubmittersRCV000726296 RCV001083154 RCV000369805 RCV000366468 RCV005582289

NM_000214.3(JAG1):c.2122C>T (p.Gln708Ter)

SNV
Germline

Chr20:10645248

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10606390

rs_886044136

2 SubmittersRCV000275364 RCV002518076

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.1146C>T (p.Asn382=)

SNV
Germline

Chr20:10650335

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
JAG1-related disorder
Condition: not provided
Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Conflicting Classifications

CA9764966

rs_200133928

6 SubmittersRCV000346646 RCV000621443 RCV004549621 RCV000726436 RCV001087114

NM_000214.3(JAG1):c.2682+8A>G

SNV
Germline

Chr20:10641775

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9764419

rs_560065330

2 SubmittersRCV000292075 RCV000645024

NM_000214.3(JAG1):c.204C>T (p.Arg68=)

SNV
Germline

Chr20:10672884

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
JAG1-related disorder

Criteria Provided
Conflicting Classifications

CA9765195

rs_565407240

4 SubmittersRCV000263328 RCV001457336 RCV004021302 RCV004549622

NM_000214.3(JAG1):c.2298T>C (p.Phe766=)

SNV
Germline

Chr20:10644909

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
JAG1-related disorder

Criteria Provided
Conflicting Classifications

CA9764563

rs_771544217

4 SubmittersRCV000324880 RCV002059305 RCV004021313 RCV004549626

NM_024408.4(NOTCH2):c.6999G>A (p.Ala2333=)

SNV
Germline

Chr1:119915723

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a NOTCH2 point mutation
Hajdu-Cheney syndrome
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

CA1039338

rs_760004891

3 SubmittersRCV000353065 RCV002502157 RCV002518153

NM_000214.3(JAG1):c.2604T>C (p.Ser868=)

SNV
Germline

Chr20:10641861

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9764437

rs_138189639

3 SubmittersRCV000294579 RCV002429240 RCV002518165

NM_024408.4(NOTCH2):c.6893G>A (p.Arg2298Gln)

SNV
Germline

Chr1:119915829

Conflicting classifications of pathogenicity

Alagille syndrome due to a NOTCH2 point mutation
Hajdu-Cheney syndrome
Hajdu-Cheney syndrome
Condition: not provided
NOTCH2-related disorder

Criteria Provided
Conflicting Classifications

CA1039360

rs_140832430

4 SubmittersRCV000764961 RCV002061146 RCV000405161 RCV003422203

NM_000214.3(JAG1):c.3297G>A (p.Pro1099=)

SNV
Germline

Chr20:10639858

Conflicting classifications of pathogenicity

Isolated Nonsyndromic Congenital Heart Disease
Cardiovascular phenotype
Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Conflicting Classifications

CA9764230

rs_748849177

3 SubmittersRCV000281669 RCV002450913 RCV001497922

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.2199C>T (p.Gly733=)

SNV
Germline

Chr20:10645171

Conflicting classifications of pathogenicity

Isolated Nonsyndromic Congenital Heart Disease
Condition: not provided
Alagille syndrome due to a JAG1 point mutation
JAG1-related disorder

Criteria Provided
Conflicting Classifications

CA9764608

rs_756062969

5 SubmittersRCV000376106 RCV000728145 RCV001502689 RCV004549771

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_000214.3(JAG1):c.3521C>T (p.Pro1174Leu)

SNV
Germline

Chr20:10639634

Conflicting classifications of pathogenicity

Isolated Nonsyndromic Congenital Heart Disease
Alagille syndrome due to a JAG1 point mutation
Condition: not provided
JAG1-related disorder

Criteria Provided
Conflicting Classifications

CA9764197

rs_775363555

5 SubmittersRCV000310081 RCV001506176 RCV000592285 RCV004739693

NM_000214.3(JAG1):c.3343G>A (p.Val1115Met)

SNV
Germline

Chr20:10639812

Conflicting classifications of pathogenicity

Isolated Nonsyndromic Congenital Heart Disease
Condition: not provided
Cardiovascular phenotype
Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Conflicting Classifications

CA9764219

rs_148373907

5 SubmittersRCV000389258 RCV000729052 RCV002323546 RCV001214423

NM_000214.3(JAG1):c.2917-7G>A

SNV
Germline

Chr20:10641251

Conflicting classifications of pathogenicity

Isolated Nonsyndromic Congenital Heart Disease
Condition: not provided
Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Conflicting Classifications

CA9764342

rs_201573066

3 SubmittersRCV000336734 RCV000591911 RCV001488793

NM_000214.3(JAG1):c.3570G>A (p.Pro1190=)

SNV
Germline

Chr20:10639585

Conflicting classifications of pathogenicity

Isolated Nonsyndromic Congenital Heart Disease
Cardiovascular phenotype
Condition: not provided
Alagille syndrome due to a JAG1 point mutation
JAG1-related disorder

Criteria Provided
Conflicting Classifications

CA9764183

rs_201572666

7 SubmittersRCV000299839 RCV002450912 RCV000867990 RCV001522902 RCV004549768

NM_000214.3(JAG1):c.2590A>G (p.Ile864Val)

SNV
Germline

Chr20:10641875

Conflicting classifications of pathogenicity

Isolated Nonsyndromic Congenital Heart Disease
Arteriohepatic dysplasia
Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9764441

rs_142742183

3 SubmittersRCV000339764 RCV000408414 RCV001068124 RCV004021826

NM_000214.3(JAG1):c.133G>T (p.Val45Leu)

SNV
Germline

Chr20:10672955

Conflicting classifications of pathogenicity

Isolated Nonsyndromic Congenital Heart Disease
not specified
Cardiovascular phenotype
Alagille syndrome due to a JAG1 point mutation
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9765209

rs_183974372

6 SubmittersRCV000303889 RCV000597398 RCV000618886 RCV000645022 RCV001672588

NM_000214.3(JAG1):c.399G>A (p.Thr133=)

SNV
Germline

Chr20:10664003

Conflicting classifications of pathogenicity

not specified
Alagille syndrome due to a JAG1 point mutation
Condition: not provided
Cardiovascular phenotype
JAG1-related disorder

Criteria Provided
Conflicting Classifications

CA9765145

rs_763154396

5 SubmittersRCV000423465 RCV000528720 RCV000732793 RCV002374703 RCV004551495

NM_000214.3(JAG1):c.3006C>A (p.Cys1002Ter)

SNV
Germline

Chr20:10641155

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA16616230

rs_372984801

1 SubmittersRCV000468292

NM_000214.3(JAG1):c.2844C>A (p.Cys948Ter)

SNV
Germline

Chr20:10641532

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA16616233

rs_1060501352

1 SubmittersRCV000470074

NM_000214.3(JAG1):c.2688G>A (p.Trp896Ter)

SNV
Germline

Chr20:10641688

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA16616454

rs_1060501350

1 SubmittersRCV000461685

NM_000214.3(JAG1):c.543T>A (p.Tyr181Ter)

SNV
Germline

Chr20:10658619

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA16616456

rs_1060501351

1 SubmittersRCV000476270

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_024408.4(NOTCH2):c.4178G>A (p.Arg1393His)

SNV
Germline

Chr1:119925638

Conflicting classifications of pathogenicity

NOTCH2-related disorder
Hajdu-Cheney syndrome
Alagille syndrome due to a NOTCH2 point mutation
Condition: not provided
Inborn genetic diseases
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

CA1039899

rs_587735797

5 SubmittersRCV003409725 RCV005027594 RCV000513966 RCV004955568 RCV005091172

NM_000214.3(JAG1):c.2498C>T (p.Ala833Val)

SNV
Germline

Chr20:10642562

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9764482

rs_141292792

3 SubmittersRCV000522322 RCV002431493 RCV002528288

NM_000214.3(JAG1):c.634T>C (p.Cys212Arg)

SNV
Germline

Chr20:10658528

Likely pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408240030

rs_1555829660

1 SubmittersRCV000553685

NM_000214.3(JAG1):c.3281G>A (p.Arg1094Gln)

SNV
Germline

Chr20:10639874

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9764236

rs_139629694

3 SubmittersRCV000527222 RCV001560044 RCV004553236

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_024408.4(NOTCH2):c.7199G>A (p.Arg2400Gln)

SNV
Germline

Chr1:119915523

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome
NOTCH2-related disorder
Alagille syndrome due to a NOTCH2 point mutation
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

CA1039304

rs_587654671

4 SubmittersRCV000591336 RCV002532381 RCV003905515 RCV005019015

NM_000214.3(JAG1):c.2671G>A (p.Ala891Thr)

SNV
Germline

Chr20:10641794

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA408245235

rs_1454234098

4 SubmittersRCV000591762 RCV001342639 RCV004024732

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.1415G>A (p.Arg472His)

SNV
Germline

Chr20:10648703

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9764848

rs_574349599

3 SubmittersRCV000596400 RCV002065158 RCV004553316

NM_000214.3(JAG1):c.1214C>G (p.Thr405Ser)

SNV
Germline

Chr20:10650267

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA408238405

rs_1237367300

2 SubmittersRCV000595190 RCV005091561

NM_000214.3(JAG1):c.3560A>G (p.Asn1187Ser)

SNV
Germline

Chr20:10639595

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9764188

rs_755420729

2 SubmittersRCV000595898 RCV001860182

NM_000214.3(JAG1):c.2451C>T (p.Cys817=)

SNV
Germline

Chr20:10643785

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9764501

rs_747532570

3 SubmittersRCV000595685 RCV003509576 RCV004024771

NM_000214.3(JAG1):c.2043G>A (p.Thr681=)

SNV
Germline

Chr20:10645426

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9764662

rs_151291264

3 SubmittersRCV000596723 RCV000618168 RCV001089168

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.1628G>A (p.Arg543His)

SNV
Germline

Chr20:10648052

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Alagille syndrome due to a JAG1 point mutation
JAG1-related disorder

Criteria Provided
Conflicting Classifications

CA9764801

rs_544877858

4 SubmittersRCV000593468 RCV000727161 RCV001208418 RCV004553323

NM_000214.3(JAG1):c.2739C>T (p.Ser913=)

SNV
Germline

Chr20:10641637

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Isolated Nonsyndromic Congenital Heart Disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9764403

rs_766479402

4 SubmittersRCV000593636 RCV001088682 RCV001141105 RCV002438540

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.3280C>T (p.Arg1094Trp)

SNV
Germline

Chr20:10639875

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9764237

rs_75652750

3 SubmittersRCV000597293 RCV004553330 RCV001401841

NM_000214.3(JAG1):c.1335G>A (p.Gln445=)

SNV
Germline

Chr20:10649535

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Alagille syndrome due to a JAG1 point mutation
JAG1-related disorder

Criteria Provided
Conflicting Classifications

CA9764915

rs_759545669

4 SubmittersRCV000593319 RCV002384301 RCV001437665 RCV004740356

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.3347G>A (p.Arg1116Gln)

SNV
Germline

Chr20:10639808

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
JAG1-related disorder

Criteria Provided
Conflicting Classifications

CA311367451

rs_908755268

4 SubmittersRCV000596683 RCV001337732 RCV002325132 RCV004553338

NM_024408.4(NOTCH2):c.875-9C>G

SNV
Germline

Chr1:119969753

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a NOTCH2 point mutation
Hajdu-Cheney syndrome
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

CA526249902

rs_1324363153

3 SubmittersRCV000597523 RCV002476332 RCV003633519

NM_000214.3(JAG1):c.1755C>T (p.Asn585=)

SNV
Germline

Chr20:10647069

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Isolated Nonsyndromic Congenital Heart Disease
Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Conflicting Classifications

CA9764756

rs_142808131

7 SubmittersRCV002413683 RCV000597479 RCV001138226 RCV001079881

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_000214.3(JAG1):c.1117A>G (p.Thr373Ala)

SNV
Germline

Chr20:10651584

Conflicting classifications of pathogenicity

not specified
Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA408238638

rs_1212026437

3 SubmittersRCV000610679 RCV001868072 RCV003362862

NM_024408.4(NOTCH2):c.7198C>T (p.Arg2400Ter)

SNV
Germline

Chr1:119915524

Pathogenic

Hajdu-Cheney syndrome
Condition: not provided
Alagille syndrome due to a NOTCH2 point mutation

Criteria Provided
Multiple Submitters
No Conflicts

CA341872777

rs_1325403451

7 SubmittersRCV000617014 RCV002508237 RCV004760646

NM_000214.3(JAG1):c.1866G>A (p.Thr622=)

SNV
Germline

Chr20:10646958

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9764736

rs_140624746

3 SubmittersRCV000734060 RCV000621611 RCV003509587

NM_000214.3(JAG1):c.2113+5G>C

SNV
Germline

Chr20:10645351

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA658799330

rs_886044704

1 SubmittersRCV000625818

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.2473C>T (p.Gln825Ter)

SNV
Germline

Chr20:10642587

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408245678

rs_1437309558

1 SubmittersRCV000645020

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.700T>A (p.Cys234Ser)

SNV
Germline

Chr20:10656453

Likely pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408239859

rs_1555829415

1 SubmittersRCV000645018

NM_000214.3(JAG1):c.1609G>A (p.Gly537Ser)

SNV
Germline

Chr20:10648071

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9764802

rs_756787187

4 SubmittersRCV000657990 RCV001352536 RCV002388163

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.2113+1G>T

SNV
Germline

Chr20:10645355

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408235372

rs_1294950721

1 SubmittersRCV000708596

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.1971C>T (p.Asp657=)

SNV
Germline

Chr20:10645999

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
JAG1-related disorder

Criteria Provided
Conflicting Classifications

CA9764696

rs_368661822

4 SubmittersRCV000728702 RCV002067089 RCV002422625 RCV004547921

NM_000214.3(JAG1):c.1325G>A (p.Trp442Ter)

SNV
Germline

Chr20:10649545

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA408238138

rs_1568796883

2 SubmittersRCV000728711 RCV003509594

NM_024408.4(NOTCH2):c.822T>G (p.Val274=)

SNV
Germline

Chr1:119987012

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a NOTCH2 point mutation
Hajdu-Cheney syndrome
Hajdu-Cheney syndrome
NOTCH2-related disorder

Criteria Provided
Conflicting Classifications

CA1040667

rs_782642000

4 SubmittersRCV000729258 RCV002477692 RCV003633537 RCV003947920

NM_000214.3(JAG1):c.2805G>A (p.Glu935=)

SNV
Germline

Chr20:10641571

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA509816068

rs_1568792051

2 SubmittersRCV000729409 RCV003619719

NM_000214.3(JAG1):c.1704C>T (p.Arg568=)

SNV
Germline

Chr20:10647976

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9764790

rs_144985667

3 SubmittersRCV000729542 RCV001862177 RCV002397506

NM_000214.3(JAG1):c.494G>A (p.Arg165Gln)

SNV
Germline

Chr20:10658668

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9765119

rs_779793192

3 SubmittersRCV000729607 RCV001337598

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.1527C>A (p.Phe509Leu)

SNV
Germline

Chr20:10648591

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9764833

rs_770377023

6 SubmittersRCV000729751 RCV001245527 RCV005367529

NM_000214.3(JAG1):c.702C>T (p.Cys234=)

SNV
Germline

Chr20:10656451

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9765073

rs_202109974

3 SubmittersRCV000729815 RCV002369992 RCV002060982

NM_000214.3(JAG1):c.82-2A>G

SNV
Germline

Chr20:10673008

Pathogenic

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

Criteria Provided
Single Submitter

CA408243961

rs_1568807161

2 SubmittersRCV000729851 RCV003319416

NM_024408.4(NOTCH2):c.6562G>A (p.Ala2188Thr)

SNV
Germline

Chr1:119916160

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome
Alagille syndrome due to a NOTCH2 point mutation
Hajdu-Cheney syndrome
NOTCH2-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1039404

rs_139052054

7 SubmittersRCV000730285 RCV001855748 RCV002485874 RCV003420300 RCV005384838

NM_000214.3(JAG1):c.694+1G>T

SNV
Germline

Chr20:10658467

Pathogenic

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

Criteria Provided
Single Submitter

CA408239878

rs_876660979

2 SubmittersRCV000730398 RCV003319417

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_024408.4(NOTCH2):c.7342G>T (p.Ala2448Ser)

SNV
Germline

Chr1:119915380

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a NOTCH2 point mutation
Hajdu-Cheney syndrome
Inborn genetic diseases
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

CA1039282

rs_764210725

4 SubmittersRCV000731226 RCV002507295 RCV003353010 RCV003633539

NM_000214.3(JAG1):c.3153C>T (p.Ala1051=)

SNV
Germline

Chr20:10640829

Conflicting classifications of pathogenicity

Condition: not provided
Isolated Nonsyndromic Congenital Heart Disease
Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9764269

rs_754593633

4 SubmittersRCV000731414 RCV001138114 RCV001479945 RCV002325447

NM_000214.3(JAG1):c.2304C>T (p.Cys768=)

SNV
Germline

Chr20:10644903

Conflicting classifications of pathogenicity

Condition: not provided
Isolated Nonsyndromic Congenital Heart Disease
Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Conflicting Classifications

CA9764560

rs_755427292

3 SubmittersRCV000731651 RCV001142961 RCV001484575

NM_000214.3(JAG1):c.915G>A (p.Pro305=)

SNV
Germline

Chr20:10652222

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9765012

rs_371165309

3 SubmittersRCV000731774 RCV002061005 RCV003303216

NM_000214.3(JAG1):c.1348+3G>A

SNV
Germline

Chr20:10649519

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
JAG1-related disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9764913

rs_368718180

4 SubmittersRCV000731970 RCV001078955 RCV004547932 RCV004629317

NM_000214.3(JAG1):c.2148C>T (p.Asn716=)

SNV
Germline

Chr20:10645222

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
JAG1-related disorder

Criteria Provided
Conflicting Classifications

CA9764616

rs_550565756

4 SubmittersRCV000732290 RCV002067128 RCV003303217 RCV004547933

NM_000214.3(JAG1):c.3001G>A (p.Ala1001Thr)

SNV
Germline

Chr20:10641160

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9764329

rs_200593413

3 SubmittersRCV000732496 RCV002067131 RCV004547935

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_024408.4(NOTCH2):c.5177G>A (p.Arg1726His)

SNV
Germline

Chr1:119922272

Conflicting classifications of pathogenicity

Condition: not provided
NOTCH2-related disorder
Hajdu-Cheney syndrome
Alagille syndrome due to a NOTCH2 point mutation

Criteria Provided
Conflicting Classifications

CA341886729

rs_1557804884

4 SubmittersRCV000733343 RCV003396310 RCV001868985 RCV004564463

NM_000214.3(JAG1):c.2877G>A (p.Ala959=)

SNV
Germline

Chr20:10641499

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9764374

rs_142085300

3 SubmittersRCV000734251 RCV001487472 RCV002440581

NM_000214.3(JAG1):c.1865C>T (p.Thr622Met)

SNV
Germline

Chr20:10646959

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9764737

rs_764089304

3 SubmittersRCV000734571 RCV001417396 RCV002406672

NM_000214.3(JAG1):c.489C>T (p.Pro163=)

SNV
Germline

Chr20:10658673

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
JAG1-related disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9765121

rs_376298235

4 SubmittersRCV000734572 RCV003509596 RCV004547939 RCV004993987

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.1443C>T (p.Gly481=)

SNV
Germline

Chr20:10648675

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA311347251

rs_879921003

2 SubmittersRCV000734815 RCV001051725

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_000214.3(JAG1):c.3038A>T (p.His1013Leu)

SNV
Germline

Chr20:10641123

Conflicting classifications of pathogenicity

Condition: not provided
Isolated Nonsyndromic Congenital Heart Disease
Alagille syndrome due to a JAG1 point mutation
JAG1-related disorder

Criteria Provided
Conflicting Classifications

CA9764321

rs_758687380

4 SubmittersRCV000734933 RCV001138116 RCV001399659 RCV004740440

NM_024408.4(NOTCH2):c.5431C>T (p.Gln1811Ter)

SNV
Germline

Chr1:119920277

Likely pathogenic

Alagille syndrome due to a NOTCH2 point mutation

No Assertion Criteria Provided

CA341885445

rs_1557804111

1 SubmittersRCV000735810

NM_024408.4(NOTCH2):c.4304G>A (p.Arg1435Gln)

SNV
Germline

Chr1:119925512

Conflicting classifications of pathogenicity

Hajdu-Cheney syndrome
Alagille syndrome due to a NOTCH2 point mutation
Hajdu-Cheney syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1039874

rs_747190078

3 SubmittersRCV000823875 RCV005021258 RCV005251231

NM_000214.3(JAG1):c.2532T>A (p.Cys844Ter)

SNV
Germline

Chr20:10642528

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408245549

rs_1600179855

1 SubmittersRCV000811911

NM_000214.3(JAG1):c.1977G>A (p.Trp659Ter)

SNV
Germline

Chr20:10645993

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408235695

rs_1600182107

1 SubmittersRCV000823654

NM_000214.3(JAG1):c.1375C>T (p.Gln459Ter)

SNV
Germline

Chr20:10649081

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408238003

rs_1289016419

1 SubmittersRCV000823114

NM_000214.3(JAG1):c.1057G>T (p.Glu353Ter)

SNV
Germline

Chr20:10651644

Pathogenic

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA408238769

rs_1600185499

2 SubmittersRCV000792631 RCV002397567

NM_000214.3(JAG1):c.238A>T (p.Lys80Ter)

SNV
Germline

Chr20:10672850

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408243131

rs_1600196443

1 SubmittersRCV000819337

NM_000214.3(JAG1):c.142G>T (p.Glu48Ter)

SNV
Germline

Chr20:10672946

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408243665

rs_1600196580

1 SubmittersRCV000793200

NM_024408.4(NOTCH2):c.5644C>T (p.His1882Tyr)

SNV
Germline

Chr1:119919449

Pathogenic

Alagille syndrome due to a NOTCH2 point mutation

No Assertion Criteria Provided

CA341884407

rs_1570658378

1 SubmittersRCV000845111

NM_024408.4(NOTCH2):c.5222C>T (p.Ser1741Leu)

SNV
Germline

Chr1:119921801

Pathogenic

Alagille syndrome due to a NOTCH2 point mutation

No Assertion Criteria Provided

CA341886532

rs_1570660422

1 SubmittersRCV000845110

NM_000214.3(JAG1):c.48C>A (p.Leu16=)

SNV
Germline

Chr20:10673483

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Isolated Nonsyndromic Congenital Heart Disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA311357562

rs_901489977

3 SubmittersRCV000870528 RCV001138743 RCV003307634

NM_024408.4(NOTCH2):c.85C>T (p.Arg29Ter)

SNV
Germline

Chr1:120029976

Conflicting classifications of pathogenicity

Hajdu-Cheney syndrome
Condition: not provided
Alagille syndrome due to a NOTCH2 point mutation

Criteria Provided
Conflicting Classifications

CA341849570

rs_1174406807

3 SubmittersRCV000986404 RCV001312091 RCV003313982

NM_000214.3(JAG1):c.886+1G>A

SNV
Unknown

Chr20:10652467

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408239186

rs_1600186024

1 SubmittersRCV000990290

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.2767G>A (p.Asp923Asn)

SNV
Germline

Chr20:10641609

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9764399

rs_775240101

2 SubmittersRCV001066148 RCV003160544

NM_000214.3(JAG1):c.2087G>A (p.Gly696Glu)

SNV
Germline

Chr20:10645382

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9764657

rs_780243244

2 SubmittersRCV001068197 RCV002418552

NM_000214.3(JAG1):c.1756G>A (p.Asp586Asn)

SNV
Germline

Chr20:10647068

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA9764755

rs_762348061

3 SubmittersRCV001064500 RCV002411585 RCV005436978

NM_000214.3(JAG1):c.1720G>T (p.Val574Leu)

SNV
Germline

Chr20:10647960

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408236696

rs_2067320699

1 SubmittersRCV001035535

NM_000214.3(JAG1):c.1232T>A (p.Leu411Ter)

SNV
Germline

Chr20:10650249

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408238366

rs_2067336398

1 SubmittersRCV001057664

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.3179G>A (p.Arg1060Gln)

SNV
Germline

Chr20:10640803

Conflicting classifications of pathogenicity

Isolated Nonsyndromic Congenital Heart Disease
Cardiovascular phenotype
Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Conflicting Classifications

CA9764265

rs_773538545

3 SubmittersRCV001138111 RCV004032318 RCV003509653

NM_000214.3(JAG1):c.3154G>A (p.Val1052Ile)

SNV
Germline

Chr20:10640828

Conflicting classifications of pathogenicity

Isolated Nonsyndromic Congenital Heart Disease
Cardiovascular phenotype
not specified
Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Conflicting Classifications

CA9764268

rs_375200637

4 SubmittersRCV001138113 RCV002320371 RCV005236632 RCV001856763

NM_000214.3(JAG1):c.2979C>T (p.Ser993=)

SNV
Germline

Chr20:10641182

Conflicting classifications of pathogenicity

Isolated Nonsyndromic Congenital Heart Disease
Alagille syndrome due to a JAG1 point mutation
JAG1-related disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9764335

rs_542976402

4 SubmittersRCV001138545 RCV001488813 RCV004548014 RCV002436721

NM_000214.3(JAG1):c.2665C>T (p.Arg889Trp)

SNV
Germline

Chr20:10641800

Conflicting classifications of pathogenicity

Isolated Nonsyndromic Congenital Heart Disease
Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
JAG1-related disorder

Criteria Provided
Conflicting Classifications

CA9764425

rs_765431150

4 SubmittersRCV001141106 RCV002032345 RCV003353171 RCV004548019

NM_000214.3(JAG1):c.2527C>T (p.Arg843Trp)

SNV
Germline

Chr20:10642533

Conflicting classifications of pathogenicity

Isolated Nonsyndromic Congenital Heart Disease
Cardiovascular phenotype
Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Conflicting Classifications

CA9764476

rs_201608372

3 SubmittersRCV001141108 RCV002451338 RCV002032346

NM_000214.3(JAG1):c.2360G>A (p.Ser787Asn)

SNV
Germline

Chr20:10644369

Conflicting classifications of pathogenicity

Isolated Nonsyndromic Congenital Heart Disease
Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9764526

rs_761640153

3 SubmittersRCV001141111 RCV001309107 RCV004994263

NM_000214.3(JAG1):c.1659G>T (p.Glu553Asp)

SNV
Germline

Chr20:10648021

Conflicting classifications of pathogenicity

Isolated Nonsyndromic Congenital Heart Disease
Alagille syndrome due to a JAG1 point mutation
JAG1-related disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA408236835

rs_1337206941

4 SubmittersRCV001138227 RCV001856770 RCV004548013 RCV004032320

NM_000214.3(JAG1):c.1377G>C (p.Gln459His)

SNV
Germline

Chr20:10649079

Conflicting classifications of pathogenicity

Isolated Nonsyndromic Congenital Heart Disease
Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Conflicting Classifications

CA9764889

rs_762746994

2 SubmittersRCV001138647 RCV001314656

NM_000214.3(JAG1):c.1023C>T (p.Leu341=)

SNV
Germline

Chr20:10651678

Conflicting classifications of pathogenicity

Isolated Nonsyndromic Congenital Heart Disease
Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Conflicting Classifications

CA509661818

rs_1297627471

2 SubmittersRCV001138648 RCV002559337

NM_000214.3(JAG1):c.1015G>T (p.Ala339Ser)

SNV
Germline

Chr20:10651686

Conflicting classifications of pathogenicity

Isolated Nonsyndromic Congenital Heart Disease
Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9764988

rs_751516838

3 SubmittersRCV001141224 RCV001338524 RCV003163312

NM_000214.3(JAG1):c.303C>T (p.Val101=)

SNV
Germline

Chr20:10672785

Conflicting classifications of pathogenicity

Isolated Nonsyndromic Congenital Heart Disease
Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA509816786

rs_1212837838

3 SubmittersRCV001138322 RCV003117782 RCV005582550

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.439+9C>T

SNV
Germline

Chr20:10663954

Conflicting classifications of pathogenicity

Isolated Nonsyndromic Congenital Heart Disease
Alagille syndrome due to a JAG1 point mutation
JAG1-related disorder

Criteria Provided
Conflicting Classifications

CA9765138

rs_374350782

4 SubmittersRCV001143066 RCV001481233 RCV004548025

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_024408.4(NOTCH2):c.5684G>A (p.Arg1895His)

SNV
Germline

Chr1:119919409

Conflicting classifications of pathogenicity

Hajdu-Cheney syndrome
Alagille syndrome due to a NOTCH2 point mutation
Hajdu-Cheney syndrome
not specified

Criteria Provided
Conflicting Classifications

CA1039585

rs_201996575

3 SubmittersRCV001224894 RCV002484219 RCV003987800

NM_000214.3(JAG1):c.1720G>C (p.Val574Leu)

SNV
Germline

Chr20:10647960

Pathogenic

Alagille syndrome due to a JAG1 point mutation
JAG1-related disorder

Criteria Provided
Single Submitter

CA408236697

rs_2067320699

2 SubmittersRCV001219403 RCV004548074

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_000214.3(JAG1):c.1657G>T (p.Glu553Ter)

SNV
Germline

Chr20:10648023

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408236840

rs_759763539

1 SubmittersRCV001212752

NM_000214.3(JAG1):c.3566C>T (p.Thr1189Met)

SNV
Germline

Chr20:10639589

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
JAG1-related disorder

Criteria Provided
Conflicting Classifications

CA311367261

rs_997363236

3 SubmittersRCV001238244 RCV004629513 RCV004740624

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.2990C>G (p.Ser997Ter)

SNV
Germline

Chr20:10641171

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408244506

rs_2067268487

1 SubmittersRCV001230121

NM_000214.3(JAG1):c.2287G>A (p.Gly763Ser)

SNV
Germline

Chr20:10644920

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9764565

rs_746939887

2 SubmittersRCV001226966 RCV002447141

NM_000214.3(JAG1):c.1102G>A (p.Gly368Ser)

SNV
Germline

Chr20:10651599

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9764981

rs_372558458

2 SubmittersRCV001231397 RCV005582614

NM_024408.4(NOTCH2):c.3406C>G (p.Gln1136Glu)

SNV
Germline

Chr1:119937398

Conflicting classifications of pathogenicity

Hajdu-Cheney syndrome
Alagille syndrome due to a NOTCH2 point mutation
NOTCH2-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA341852061

rs_1553195867

4 SubmittersRCV001246620 RCV002282499 RCV004740631 RCV004960648

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_000214.3(JAG1):c.388-2A>C

SNV
Germline

Chr20:10664016

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408242192

rs_2067434947

1 SubmittersRCV001238101

NM_000214.3(JAG1):c.82-1G>C

SNV
Germline

Chr20:10673007

Likely pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408243954

rs_2067508256

1 SubmittersRCV001248635

NM_000214.3(JAG1):c.2914C>G (p.Pro972Ala)

SNV
Germline

Chr20:10641462

Likely pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408244693

rs_2067270959

1 SubmittersRCV001281184

NM_000214.3(JAG1):c.2579G>A (p.Gly860Glu)

SNV
Germline

Chr20:10641886

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9764446

rs_762121866

3 SubmittersRCV001253045 RCV005348403

NM_000214.3(JAG1):c.588C>A (p.Cys196Ter)

SNV
Unknown

Chr20:10658574

Likely pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408240159

rs_1801138

1 SubmittersRCV001281362

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.2752A>G (p.Ile918Val)

SNV
Germline

Chr20:10641624

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA311368801

rs_773431867

2 SubmittersRCV001308696 RCV003294247

NM_000214.3(JAG1):c.2333T>C (p.Ile778Thr)

SNV
Germline

Chr20:10644874

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9764555

rs_767504037

2 SubmittersRCV001297586 RCV004994386

NM_000214.3(JAG1):c.1706C>T (p.Thr569Met)

SNV
Germline

Chr20:10647974

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9764789

rs_368438076

3 SubmittersRCV001300968 RCV004036186

NM_024408.4(NOTCH2):c.6125T>C (p.Met2042Thr)

SNV
Germline

Chr1:119916597

Pathogenic

Alagille syndrome due to a NOTCH2 point mutation

Criteria Provided
Single Submitter

CA341880783

rs_1649084282

1 SubmittersRCV001310089

NM_024408.4(NOTCH2):c.2785G>A (p.Gly929Arg)

SNV
Germline

Chr1:119941722

Conflicting classifications of pathogenicity

Hajdu-Cheney syndrome
NOTCH2-related disorder
Inborn genetic diseases
Alagille syndrome due to a NOTCH2 point mutation
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

CA1040199

rs_199585130

4 SubmittersRCV001316334 RCV003399093 RCV004034391 RCV002476472

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.2372+1G>T

SNV
Unknown

Chr20:10644356

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408234755

rs_2067293664

1 SubmittersRCV001329703

NM_024408.4(NOTCH2):c.2587C>T (p.Pro863Ser)

SNV
Germline

Chr1:119949019

Likely pathogenic

Alagille syndrome due to a NOTCH2 point mutation

Criteria Provided
Single Submitter

CA341858886

rs_1650362306

1 SubmittersRCV001336624

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.2552G>A (p.Ser851Asn)

SNV
Germline

Chr20:10642508

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA408245503

rs_1211288472

2 SubmittersRCV001367359 RCV004037005

NM_000214.3(JAG1):c.2042C>T (p.Thr681Met)

SNV
Germline

Chr20:10645427

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9764663

rs_772675011

2 SubmittersRCV001362843 RCV002420794

NM_000214.3(JAG1):c.1475C>T (p.Ala492Val)

SNV
Germline

Chr20:10648643

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
JAG1-related disorder

Criteria Provided
Conflicting Classifications

CA9764836

rs_200250528

3 SubmittersRCV001364173 RCV002395817 RCV004550087

NM_000214.3(JAG1):c.2732G>A (p.Cys911Tyr)

SNV
Germline

Chr20:10641644

Likely pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408245094

rs_1555827782

1 SubmittersRCV001376921

NM_000214.3(JAG1):c.1720+1G>C

SNV
Germline

Chr20:10647959

Likely pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408236694

rs_2122607604

1 SubmittersRCV001376996

NM_000214.3(JAG1):c.3049-2A>G

SNV
Germline

Chr20:10640935

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408244383

rs_2122595262

1 SubmittersRCV001383277

NM_000214.3(JAG1):c.2917-1G>T

SNV
Germline

Chr20:10641245

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408244677

rs_2122595945

1 SubmittersRCV001385742

NM_000214.3(JAG1):c.1779T>A (p.Tyr593Ter)

SNV
Germline

Chr20:10647045

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408236166

rs_2122606277

1 SubmittersRCV001383128

NM_000214.3(JAG1):c.1308C>A (p.Cys436Ter)

SNV
Germline

Chr20:10649562

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408238176

rs_764485729

1 SubmittersRCV001387935

NM_000214.3(JAG1):c.682G>T (p.Glu228Ter)

SNV
Germline

Chr20:10658480

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408239911

rs_1286744339

1 SubmittersRCV001388474

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_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.2242T>C (p.Cys748Arg)

SNV
Germline

Chr20:10644965

Likely pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408235052

rs_2122602509

1 SubmittersRCV001796554

NM_000214.3(JAG1):c.2358C>A (p.Cys786Ter)

SNV
Germline

Chr20:10644371

Pathogenic

Alagille syndrome due to a JAG1 point mutation

No Assertion Criteria Provided

CA408234792

rs_1189479619

1 SubmittersRCV001580380

NM_024408.4(NOTCH2):c.5624G>A (p.Arg1875Gln)

SNV
Germline

Chr1:119919469

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a NOTCH2 point mutation
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

CA1039591

rs_148613210

3 SubmittersRCV001758446 RCV002282575 RCV002540407

NM_000214.3(JAG1):c.1007-2A>G

SNV
Germline

Chr20:10651696

Pathogenic

Alagille syndrome due to a JAG1 point mutation

No Assertion Criteria Provided

CA408238893

rs_2122613705

1 SubmittersRCV001771819

NM_024408.4(NOTCH2):c.6586C>T (p.Gln2196Ter)

SNV
Unknown

Chr1:119916136

Likely pathogenic

Alagille syndrome due to a NOTCH2 point mutation
Hajdu-Cheney syndrome

Criteria Provided
Single Submitter

CA341877406

rs_2101143618

1 SubmittersRCV001799543

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.2650C>T (p.Gln884Ter)

SNV
Germline

Chr20:10641815

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Multiple Submitters
No Conflicts

CA408245278

rs_2122597239

2 SubmittersRCV001807916

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

SNV
Germline

Chr20:10647030

Conflicting classifications of pathogenicity

not specified
Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA311346533

rs_200580391

3 SubmittersRCV001817381 RCV002542528 RCV004996020

NM_000214.3(JAG1):c.1653C>A (p.Cys551Ter)

SNV
Germline

Chr20:10648027

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408236848

rs_2122607772

1 SubmittersRCV001837375

NM_000214.3(JAG1):c.2863C>T (p.Gln955Ter)

SNV
Germline

Chr20:10641513

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408244811

rs_2122596452

1 SubmittersRCV001902789

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.2687G>T (p.Trp896Leu)

SNV
Germline

Chr20:10641689

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA408245186

rs_1227203387

3 SubmittersRCV001925525 RCV004762243 RCV005370033

NM_024408.4(NOTCH2):c.5423C>T (p.Thr1808Ile)

SNV
Germline

Chr1:119920285

Conflicting classifications of pathogenicity

Hajdu-Cheney syndrome
Alagille syndrome due to a NOTCH2 point mutation
Hajdu-Cheney syndrome
NOTCH2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA1039641

rs_144085962

5 SubmittersRCV001894410 RCV002506898 RCV004741101 RCV004526870

NM_000214.3(JAG1):c.3083T>G (p.Ile1028Ser)

SNV
Germline

Chr20:10640899

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA408244241

rs_761187116

2 SubmittersRCV001907267 RCV003355575

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.2627G>A (p.Trp876Ter)

SNV
Germline

Chr20:10641838

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408245334

rs_2122597289

1 SubmittersRCV001890870

NM_000214.3(JAG1):c.1666G>T (p.Glu556Ter)

SNV
Germline

Chr20:10648014

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408236819

rs_2122607723

1 SubmittersRCV001950790

NM_000214.3(JAG1):c.95C>A (p.Ser32Ter)

SNV
Germline

Chr20:10672993

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Multiple Submitters
No Conflicts

CA408243880

rs_2122644940

2 SubmittersRCV001908477

NM_000214.3(JAG1):c.2733C>G (p.Cys911Trp)

SNV
Germline

Chr20:10641643

Likely pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408245091

rs_1411780867

1 SubmittersRCV002010651

NM_024408.4(NOTCH2):c.881T>A (p.Phe294Tyr)

SNV
Germline

Chr1:119969738

Conflicting classifications of pathogenicity

Hajdu-Cheney syndrome
Alagille syndrome due to a NOTCH2 point mutation
Hajdu-Cheney syndrome
Inborn genetic diseases
NOTCH2-related disorder

Criteria Provided
Conflicting Classifications

CA1040652

rs_369664394

4 SubmittersRCV002008615 RCV002492249 RCV005445543 RCV004741179

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_024408.4(NOTCH2):c.2636C>T (p.Ser879Phe)

SNV
Germline

Chr1:119948530

Conflicting classifications of pathogenicity

Hajdu-Cheney syndrome
Alagille syndrome due to a NOTCH2 point mutation
Hajdu-Cheney syndrome
NOTCH2-related disorder

Criteria Provided
Conflicting Classifications

CA30288057

rs_1004494435

3 SubmittersRCV001916783 RCV005031898 RCV003978420

NM_000214.3(JAG1):c.1878C>A (p.Cys626Ter)

SNV
Germline

Chr20:10646946

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408235943

rs_2122606113

1 SubmittersRCV001942649

NM_000214.3(JAG1):c.984T>G (p.Tyr328Ter)

SNV
Germline

Chr20:10652153

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408238949

rs_2122614368

1 SubmittersRCV001997021

NM_000214.3(JAG1):c.2632G>A (p.Asp878Asn)

SNV
Germline

Chr20:10641833

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9764431

rs_750102792

2 SubmittersRCV001903469 RCV004042644

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_024408.4(NOTCH2):c.2501T>G (p.Leu834Trp)

SNV
Germline

Chr1:119949105

Conflicting classifications of pathogenicity

Hajdu-Cheney syndrome
Hajdu-Cheney syndrome
Alagille syndrome due to a NOTCH2 point mutation
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1040260

rs_376526633

3 SubmittersRCV001989871 RCV002484783 RCV005374947

NM_000214.3(JAG1):c.622G>T (p.Gly208Ter)

SNV
Germline

Chr20:10658540

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA408240055

rs_2122623590

2 SubmittersRCV002049610 RCV002254359

NM_000214.3(JAG1):c.3290G>A (p.Arg1097Gln)

SNV
Germline

Chr20:10639865

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA408243487

rs_1462490364

3 SubmittersRCV001928796 RCV002324343 RCV004816769

NM_000214.3(JAG1):c.3100A>T (p.Lys1034Ter)

SNV
Germline

Chr20:10640882

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408244177

rs_2122595154

1 SubmittersRCV001893572

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.2528G>A (p.Arg843Gln)

SNV
Germline

Chr20:10642532

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9764475

rs_751448440

2 SubmittersRCV002034950 RCV002458637

NM_000214.3(JAG1):c.2458+2T>G

SNV
Germline

Chr20:10643776

Likely pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408234544

rs_2122600427

1 SubmittersRCV001994181

NM_000214.3(JAG1):c.2980G>A (p.Ala994Thr)

SNV
Germline

Chr20:10641181

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9764334

rs_750273506

2 SubmittersRCV001938935 RCV004041896

NM_000214.3(JAG1):c.756-1G>C

SNV
Germline

Chr20:10652599

Likely pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408239496

rs_1568798388

1 SubmittersRCV002016997

NM_000214.3(JAG1):c.936T>A (p.Cys312Ter)

SNV
Germline

Chr20:10652201

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408239066

rs_2122614453

1 SubmittersRCV001894150

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.2412C>A (p.Tyr804Ter)

SNV
Germline

Chr20:10643824

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408234652

rs_2122600550

1 SubmittersRCV001956444

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.2209G>T (p.Gly737Ter)

SNV
Germline

Chr20:10645161

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408235138

rs_2122602893

1 SubmittersRCV001904678

NM_024408.4(NOTCH2):c.1113C>G (p.Leu371=)

SNV
Germline

Chr1:119968228

Conflicting classifications of pathogenicity

Hajdu-Cheney syndrome
Alagille syndrome due to a NOTCH2 point mutation
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

CA420038913

rs_782323295

2 SubmittersRCV001941515 RCV005031957

NM_000214.3(JAG1):c.783C>G (p.Tyr261Ter)

SNV
Germline

Chr20:10652571

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408239430

rs_2122615158

1 SubmittersRCV001901512

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.1775G>A (p.Arg592Gln)

SNV
Germline

Chr20:10647049

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA408236175

rs_1436726865

2 SubmittersRCV002047497 RCV004996036

NM_000214.3(JAG1):c.2200G>A (p.Gly734Ser)

SNV
Germline

Chr20:10645170

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9764607

rs_199561320

3 SubmittersRCV001883888 RCV002224104 RCV005584929

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_024408.4(NOTCH2):c.4511+7G>T

SNV
Germline

Chr1:119925298

Conflicting classifications of pathogenicity

Hajdu-Cheney syndrome
Alagille syndrome due to a NOTCH2 point mutation
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

CA1039854

rs_778914409

2 SubmittersRCV002154204 RCV005025715

NM_000214.3(JAG1):c.3522G>A (p.Pro1174=)

SNV
Germline

Chr20:10639633

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA509816237

rs_1413360004

3 SubmittersRCV002115652 RCV003138080 RCV004046275

NM_000214.3(JAG1):c.2596A>G (p.Met866Val)

SNV
Germline

Chr20:10641869

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9764439

rs_746108409

2 SubmittersRCV002071249 RCV003438913

NM_000214.3(JAG1):c.3007G>T (p.Glu1003Ter)

SNV
Germline

Chr20:10641154

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408244474

rs_781509375

1 SubmittersRCV002244289

NM_000214.3(JAG1):c.203G>C (p.Arg68Pro)

SNV
Germline

Chr20:10672885

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Conflicting Classifications

CA311357358

rs_892275570

3 SubmittersRCV002247908 RCV004045187 RCV003101328

NM_000214.3(JAG1):c.2458+1G>A

SNV
Germline

Chr20:10643777

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408234548

rs_2122600431

1 SubmittersRCV002250059

NM_024408.4(NOTCH2):c.2642C>T (p.Pro881Leu)

SNV
Germline

Chr1:119948524

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome
Alagille syndrome due to a NOTCH2 point mutation
Hajdu-Cheney syndrome
NOTCH2-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1040231

rs_782728045

5 SubmittersRCV002261859 RCV002496195 RCV003095903 RCV003395436 RCV004958514

NM_024408.4(NOTCH2):c.5930-2A>G

SNV
Germline

Chr1:119917764

Pathogenic

Alagille syndrome due to a NOTCH2 point mutation

No Assertion Criteria Provided

CA341882147

rs_2526112913

1 SubmittersRCV002280379

NM_000214.3(JAG1):c.771G>A (p.Trp257Ter)

SNV
Germline

Chr20:10652583

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA311349844

rs_868134621

2 SubmittersRCV002280566 RCV003619761

NM_000214.3(JAG1):c.702C>A (p.Cys234Ter)

SNV
Unknown

Chr20:10656451

Likely pathogenic

Alagille syndrome due to a JAG1 point mutation

No Assertion Criteria Provided

CA408239853

rs_202109974

1 SubmittersRCV002285223

NM_000214.3(JAG1):c.3097G>A (p.Asp1033Asn)

SNV
Germline

Chr20:10640885

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Conflicting Classifications

CA9764281

rs_772228887

2 SubmittersRCV002325866 RCV003099191

NM_000214.3(JAG1):c.3209T>C (p.Val1070Ala)

SNV
Germline

Chr20:10639946

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Conflicting Classifications

CA9764247

rs_374654050

2 SubmittersRCV002323033 RCV005058278

NM_000214.3(JAG1):c.3503C>G (p.Ala1168Gly)

SNV
Germline

Chr20:10639652

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Conflicting Classifications

CA9764201

rs_375431219

2 SubmittersRCV002459160 RCV003619767

NM_000214.3(JAG1):c.3124C>T (p.Arg1042Cys)

SNV
Germline

Chr20:10640858

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Alagille syndrome due to a JAG1 point mutation
JAG1-related disorder

Criteria Provided
Conflicting Classifications

CA311368067

rs_778801776

3 SubmittersRCV002320515 RCV003099218 RCV004548273

NM_000214.3(JAG1):c.1274A>G (p.Lys425Arg)

SNV
Germline

Chr20:10649596

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9764922

rs_780939183

2 SubmittersRCV003100118 RCV002450050

NM_000214.3(JAG1):c.1438G>T (p.Ala480Ser)

SNV
Germline

Chr20:10648680

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Alagille syndrome due to a JAG1 point mutation
JAG1-related disorder

Criteria Provided
Conflicting Classifications

CA311347258

rs_144557870

3 SubmittersRCV002394310 RCV003103692 RCV004548290

NM_000214.3(JAG1):c.182C>T (p.Pro61Leu)

SNV
Germline

Chr20:10672906

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Conflicting Classifications

CA9765201

rs_199603948

2 SubmittersRCV002410514 RCV003774520

NM_000214.3(JAG1):c.2665C>G (p.Arg889Gly)

SNV
Germline

Chr20:10641800

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9764424

rs_765431150

2 SubmittersRCV003102086 RCV002453135

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.2572+1G>T

SNV
Germline

Chr20:10642487

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408245455

rs_2514510396

1 SubmittersRCV003064602

NM_000214.3(JAG1):c.1189A>T (p.Lys397Ter)

SNV
Germline

Chr20:10650292

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408238461

rs_2514519179

1 SubmittersRCV003050552

NM_024408.4(NOTCH2):c.4355G>A (p.Gly1452Glu)

SNV
Germline

Chr1:119925461

Conflicting classifications of pathogenicity

Hajdu-Cheney syndrome
Alagille syndrome due to a NOTCH2 point mutation
Hajdu-Cheney syndrome
NOTCH2-related disorder

Criteria Provided
Conflicting Classifications

CA1039867

rs_587650323

3 SubmittersRCV005019616 RCV003063019 RCV003892210

NM_000214.3(JAG1):c.566A>G (p.Asp189Gly)

SNV
Germline

Chr20:10658596

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA408240246

rs_1362570122

2 SubmittersRCV003073783 RCV003171004

NM_000214.3(JAG1):c.1414C>T (p.Arg472Cys)

SNV
Germline

Chr20:10648704

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA408237907

rs_1346269262

2 SubmittersRCV003068206 RCV004070323

NM_000214.3(JAG1):c.3302G>A (p.Ser1101Asn)

SNV
Germline

Chr20:10639853

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
JAG1-related disorder

Criteria Provided
Conflicting Classifications

CA9764228

rs_377617900

3 SubmittersRCV002585054 RCV003161859 RCV004550408

NM_000214.3(JAG1):c.3505C>T (p.Arg1169Trp)

SNV
Germline

Chr20:10639650

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA408242702

rs_368162343

2 SubmittersRCV002637777 RCV004070795

NM_000214.3(JAG1):c.1822C>T (p.Gln608Ter)

SNV
Germline

Chr20:10647002

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408236068

rs_979265484

1 SubmittersRCV002601847

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_024408.4(NOTCH2):c.2063C>T (p.Ser688Phe)

SNV
Germline

Chr1:119955196

Conflicting classifications of pathogenicity

Hajdu-Cheney syndrome
Hajdu-Cheney syndrome
Alagille syndrome due to a NOTCH2 point mutation

Criteria Provided
Conflicting Classifications

CA1040389

rs_371567728

2 SubmittersRCV002671175 RCV005025936

NM_000214.3(JAG1):c.795C>A (p.Cys265Ter)

SNV
Germline

Chr20:10652559

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408239400

rs_2514521753

1 SubmittersRCV002828571

NM_000214.3(JAG1):c.1566T>A (p.Cys522Ter)

SNV
Germline

Chr20:10648552

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408237246

rs_2514517120

1 SubmittersRCV002851779

NM_000214.3(JAG1):c.3178C>T (p.Arg1060Trp)

SNV
Germline

Chr20:10640804

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9764266

rs_760992773

2 SubmittersRCV002890513 RCV004065976

NM_000214.3(JAG1):c.2114-2A>C

SNV
Germline

Chr20:10645258

Likely pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408235367

rs_2514513412

1 SubmittersRCV002894532

NM_024408.4(NOTCH2):c.6699A>G (p.Pro2233=)

SNV
Germline

Chr1:119916023

Conflicting classifications of pathogenicity

Hajdu-Cheney syndrome
Alagille syndrome due to a NOTCH2 point mutation
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

CA1039388

rs_780347544

2 SubmittersRCV002908111 RCV005019434

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_024408.4(NOTCH2):c.5024G>A (p.Arg1675His)

SNV
Germline

Chr1:119922425

Conflicting classifications of pathogenicity

Hajdu-Cheney syndrome
NOTCH2-related disorder
Alagille syndrome due to a NOTCH2 point mutation
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

CA1039731

rs_372916164

3 SubmittersRCV002957559 RCV003409972 RCV005019486

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_024408.4(NOTCH2):c.1787A>G (p.Asn596Ser)

SNV
Germline

Chr1:119963702

Conflicting classifications of pathogenicity

Hajdu-Cheney syndrome
Alagille syndrome due to a NOTCH2 point mutation
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

CA1040457

rs_782709024

2 SubmittersRCV002966084 RCV005034515

NM_024408.4(NOTCH2):c.4115G>A (p.Arg1372Gln)

SNV
Germline

Chr1:119925701

Conflicting classifications of pathogenicity

Alagille syndrome due to a NOTCH2 point mutation
Hajdu-Cheney syndrome
Hajdu-Cheney syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1039910

rs_587610159

3 SubmittersRCV005028110 RCV002996300 RCV005412463

NM_000214.3(JAG1):c.3001G>T (p.Ala1001Ser)

SNV
Germline

Chr20:10641160

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA408244485

rs_200593413

2 SubmittersRCV002999542 RCV005585291

NM_000214.3(JAG1):c.2505T>A (p.Cys835Ter)

SNV
Germline

Chr20:10642555

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408245610

rs_2514510500

1 SubmittersRCV003003027

NM_000214.3(JAG1):c.2572+1G>C

SNV
Germline

Chr20:10642487

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408245456

rs_2514510396

1 SubmittersRCV003006307

NM_000214.3(JAG1):c.3569C>T (p.Pro1190Leu)

SNV
Germline

Chr20:10639586

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA408242477

rs_1334807463

2 SubmittersRCV003509774 RCV004224621

NM_000214.3(JAG1):c.3284A>G (p.Lys1095Arg)

SNV
Germline

Chr20:10639871

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Conflicting Classifications

CA9764235

rs_748060377

2 SubmittersRCV003177418 RCV003509783

NM_000214.3(JAG1):c.695-1G>C

SNV
Unknown

Chr20:10656459

Likely pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408239870

rs_2514524519

1 SubmittersRCV003315128

NM_000214.3(JAG1):c.2459-2A>G

SNV
Unknown

Chr20:10642603

Likely pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408245719

rs_2514510557

1 SubmittersRCV003315191

NM_000214.3(JAG1):c.753C>A (p.Cys251Ter)

SNV
Unknown

Chr20:10656400

Pathogenic

Alagille syndrome due to a JAG1 point mutation

No Assertion Criteria Provided

CA408239739

rs_2514524411

1 SubmittersRCV003493999

NM_024408.4(NOTCH2):c.6028-5T>A

SNV
Germline

Chr1:119916699

Likely pathogenic

Alagille syndrome due to a NOTCH2 point mutation

Criteria Provided
Single Submitter

CA2740097918

rs_1649088431

1 SubmittersRCV003991056

NM_024408.4(NOTCH2):c.1492T>C (p.Cys498Arg)

SNV
Unknown

Chr1:119966451

Likely pathogenic

Alagille syndrome due to a NOTCH2 point mutation

Criteria Provided
Single Submitter

CA341876700

rs_2526300230

1 SubmittersRCV003333374

NM_000214.3(JAG1):c.864G>A (p.Trp288Ter)

SNV
Unknown

Chr20:10652490

Likely pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408239240

rs_2514521680

1 SubmittersRCV003333389

NM_000214.3(JAG1):c.2803G>A (p.Glu935Lys)

SNV
Germline

Chr20:10641573

Conflicting classifications of pathogenicity

Alagille syndrome due to a JAG1 point mutation
JAG1-related disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9764391

rs_753161584

3 SubmittersRCV003511037 RCV004554250 RCV005363139

NM_024408.4(NOTCH2):c.1521G>T (p.Gly507=)

SNV
Germline

Chr1:119966422

Conflicting classifications of pathogenicity

Hajdu-Cheney syndrome
NOTCH2-related disorder
Alagille syndrome due to a NOTCH2 point mutation
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

CA420037287

rs_2526300115

3 SubmittersRCV003525056 RCV004738802 RCV005036875

NM_024408.4(NOTCH2):c.6131G>A (p.Arg2044His)

SNV
Germline

Chr1:119916591

Conflicting classifications of pathogenicity

Hajdu-Cheney syndrome
Alagille syndrome due to a NOTCH2 point mutation
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

CA1039486

rs_145077404

2 SubmittersRCV003524877 RCV005014753

NM_000214.3(JAG1):c.1603C>T (p.Gln535Ter)

SNV
Germline

Chr20:10648077

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408236966

rs_2514516680

1 SubmittersRCV003509032

NM_000214.3(JAG1):c.387+1G>A

SNV
Germline

Chr20:10672700

Likely pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408242290

rs_2514537639

1 SubmittersRCV003509034

NM_000214.3(JAG1):c.2341C>T (p.Gln781Ter)

SNV
Germline

Chr20:10644866

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408234841

rs_2514512834

1 SubmittersRCV003510208

NM_000214.3(JAG1):c.2683-1G>A

SNV
Germline

Chr20:10641694

Likely pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408245200

rs_2514509368

1 SubmittersRCV003510425

NM_000214.3(JAG1):c.1263T>A (p.Cys421Ter)

SNV
Germline

Chr20:10649607

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408238278

rs_1261578129

1 SubmittersRCV003620659

NM_000214.3(JAG1):c.760C>T (p.Gln254Ter)

SNV
Germline

Chr20:10652594

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408239482

rs_2514521818

1 SubmittersRCV003620913

NM_000214.3(JAG1):c.3048+2T>A

SNV
Germline

Chr20:10641111

Likely pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408244387

rs_2514508256

1 SubmittersRCV003620845

NM_000214.3(JAG1):c.1953C>A (p.Tyr651Ter)

SNV
Germline

Chr20:10646017

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408235756

rs_2514514448

1 SubmittersRCV003620907

NM_000214.3(JAG1):c.1396-1G>A

SNV
Germline

Chr20:10648723

Likely pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408237952

rs_2514517345

1 SubmittersRCV003620854

NM_024408.4(NOTCH2):c.5970G>A (p.Val1990=)

SNV
Germline

Chr1:119917722

Conflicting classifications of pathogenicity

Hajdu-Cheney syndrome
Hajdu-Cheney syndrome
Alagille syndrome due to a NOTCH2 point mutation

Criteria Provided
Conflicting Classifications

CA420035751

rs_2526112802

2 SubmittersRCV003634995 RCV005014850

NM_000214.3(JAG1):c.1437T>G (p.Tyr479Ter)

SNV
Germline

Chr20:10648681

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408237859

rs_2067325167

1 SubmittersRCV003621289

NM_000214.3(JAG1):c.87T>A (p.Cys29Ter)

SNV
Germline

Chr20:10673001

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408243923

rs_2514538159

1 SubmittersRCV003621390

NM_000214.3(JAG1):c.1569+1G>A

SNV
Germline

Chr20:10648548

Likely pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408237212

rs_2514517119

1 SubmittersRCV003619411

NM_000214.3(JAG1):c.1427C>T (p.Pro476Leu)

SNV
Germline

Chr20:10648691

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9764846

rs_148448920

2 SubmittersRCV003619619 RCV005422409

NM_024408.4(NOTCH2):c.1454-11G>T

SNV
Germline

Chr1:119966500

Conflicting classifications of pathogenicity

Hajdu-Cheney syndrome
Alagille syndrome due to a NOTCH2 point mutation
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

CA1040540

rs_781975437

2 SubmittersRCV003822320 RCV005030281

NM_024408.4(NOTCH2):c.1278T>A (p.Pro426=)

SNV
Germline

Chr1:119967608

Conflicting classifications of pathogenicity

Hajdu-Cheney syndrome
Alagille syndrome due to a NOTCH2 point mutation
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

CA420038295

rs_1553199845

2 SubmittersRCV003813784 RCV005038527

NM_000214.3(JAG1):c.1362C>A (p.Cys454Ter)

SNV
Germline

Chr20:10649094

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408238033

rs_2514517862

1 SubmittersRCV003838020

NM_024408.4(NOTCH2):c.4194C>T (p.Tyr1398=)

SNV
Germline

Chr1:119925622

Conflicting classifications of pathogenicity

Hajdu-Cheney syndrome
Alagille syndrome due to a NOTCH2 point mutation
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

CA420191155

rs_2101162618

2 SubmittersRCV003851313 RCV005015047

NM_000214.3(JAG1):c.1721-2A>T

SNV
Germline

Chr20:10647105

Likely pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408236687

rs_2514515739

1 SubmittersRCV003885404

NM_000214.3(JAG1):c.1211G>A (p.Trp404Ter)

SNV
Germline

Chr20:10650270

Likely pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408238414

rs_2514519130

1 SubmittersRCV003985953

NM_000214.3(JAG1):c.387+1G>C

SNV
Germline

Chr20:10672700

Likely pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408242287

rs_2514537639

1 SubmittersRCV003986036

NM_000214.3(JAG1):c.496C>T (p.Gln166Ter)

SNV
Germline

Chr20:10658666

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

CA408240505

rs_2514526656

1 SubmittersRCV003989057

NM_024408.4(NOTCH2):c.273A>G (p.Arg91=)

SNV
Germline

Chr1:120005471

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a NOTCH2 point mutation
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

CA1040895

rs_201643251

2 SubmittersRCV004545996 RCV005023568

NM_000214.3(JAG1):c.73C>T (p.Arg25Ter)

SNV
Germline

Chr20:10673458

Pathogenic

JAG1-related disorder
Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

2 SubmittersRCV004729915 RCV005103636

NM_000214.3(JAG1):c.396T>A (p.Tyr132Ter)

SNV
Germline

Chr20:10664006

Pathogenic

Alagille syndrome due to a JAG1 point mutation

Criteria Provided
Single Submitter

1 SubmittersRCV004789887

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_024408.4(NOTCH2):c.416-2A>G

SNV
Germline

Chr1:119997334

Likely pathogenic

Alagille syndrome due to a NOTCH2 point mutation
Hajdu-Cheney syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005039083

NM_024408.4(NOTCH2):c.3813C>T (p.Asn1271=)

SNV
Germline

Chr1:119929055