Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_024408.4(NOTCH2):c.6622C>T (p.Gln2208Ter)	SNV Germline	Chr1:119916100	Pathogenic	Hajdu-Cheney syndrome	No Assertion Criteria Provided	CA128895	rs_387906746	1 SubmittersRCV000022959
NM_024408.4(NOTCH2):c.7119T>G (p.Tyr2373Ter)	SNV Germline	Chr1:119915603	Pathogenic	Hajdu-Cheney syndrome	No Assertion Criteria Provided		rs_1557801639	1 SubmittersRCV000022960
NM_024408.4(NOTCH2):c.6949C>T (p.Gln2317Ter)	SNV Germline	Chr1:119915773	Pathogenic	Hajdu-Cheney syndrome	No Assertion Criteria Provided	CA128897	rs_387906747	1 SubmittersRCV000022961
NM_024408.4(NOTCH2):c.6895G>T (p.Glu2299Ter)	SNV Germline	Chr1:119915827	Pathogenic	Hajdu-Cheney syndrome	No Assertion Criteria Provided	CA128899	rs_387906748	1 SubmittersRCV000022962
NM_024408.4(NOTCH2):c.7165C>T (p.Gln2389Ter)	SNV Germline	Chr1:119915557	Pathogenic	Hajdu-Cheney syndrome	No Assertion Criteria Provided	CA128901	rs_387906749	1 SubmittersRCV000022963
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 Hajdu-Cheney syndrome NOTCH2-related disorder	Criteria Provided Conflicting Classifications	CA161257	rs_146014987	5 SubmittersRCV000121715 RCV000725834 RCV000764962 RCV002515888 RCV003892113
NM_024408.4(NOTCH2):c.5161G>A (p.Ala1721Thr)	SNV Germline	Chr1:119922288	Conflicting classifications of pathogenicity	not specified Condition: not provided Hajdu-Cheney syndrome NOTCH2-related disorder	Criteria Provided Conflicting Classifications	CA161285	rs_115013051	4 SubmittersRCV000121729 RCV000728639 RCV001497958 RCV003905162
NM_024408.4(NOTCH2):c.6979A>G (p.Thr2327Ala)	SNV Germline	Chr1:119915743	Conflicting classifications of pathogenicity	not specified Condition: not provided Hajdu-Cheney syndrome Alagille syndrome due to a NOTCH2 point mutation Hajdu-Cheney syndrome NOTCH2-related disorder	Criteria Provided Conflicting Classifications	CA161291	rs_587778578	5 SubmittersRCV000121732 RCV000729463 RCV002483225 RCV002517602 RCV004739418
NM_024408.4(NOTCH2):c.4041A>G (p.Gly1347=)	SNV Germline	Chr1:119925775	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications	CA242576	rs_753043164	2 SubmittersRCV000176589 RCV002054080
NM_024408.4(NOTCH2):c.4740G>A (p.Lys1580=)	SNV Germline	Chr1:119923756	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome NOTCH2-related disorder	Criteria Provided Conflicting Classifications	CA242713	rs_367699419	3 SubmittersRCV000176689 RCV000638610 RCV003955050
NM_024408.4(NOTCH2):c.5871G>A (p.Glu1957=)	SNV Germline	Chr1:119918464	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications	CA244167	rs_587718458	2 SubmittersRCV000177659 RCV001236924
NM_024408.4(NOTCH2):c.7413G>A (p.Ala2471=)	SNV Germline	Chr1:119915309	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome NOTCH2-related disorder	Criteria Provided Conflicting Classifications	CA244741	rs_771638958	3 SubmittersRCV000177811 RCV002516755 RCV003947508
NM_024408.4(NOTCH2):c.6766C>T (p.Arg2256Cys)	SNV Germline	Chr1:119915956	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome NOTCH2-related disorder	Criteria Provided Conflicting Classifications	CA244745	rs_147522485	4 SubmittersRCV000177813 RCV002054103 RCV003947509
NM_024408.4(NOTCH2):c.2196A>C (p.Gly732=)	SNV Germline	Chr1:119955063	Conflicting classifications of pathogenicity	not specified Condition: not provided Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications	CA1040367	rs_782101275	3 SubmittersRCV000244994 RCV000726704 RCV002058328
NM_024408.4(NOTCH2):c.6787C>T (p.Gln2263Ter)	SNV Germline	Chr1:119915935	Pathogenic	Condition: not provided Hajdu-Cheney syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10602736	rs_886041862	3 SubmittersRCV000396824 RCV003633494
NM_024408.4(NOTCH2):c.4938A>G (p.Ala1646=)	SNV Germline	Chr1:119922700	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications	CA10604034	rs_886042285	2 SubmittersRCV000384147 RCV002059099
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	Criteria Provided Conflicting Classifications	CA1039440	rs_148393324	3 SubmittersRCV000276229 RCV002059111 RCV002519113
NM_024408.4(NOTCH2):c.1287T>C (p.His429=)	SNV Germline	Chr1:119967599	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications	CA1040566	rs_377469966	2 SubmittersRCV000305517 RCV002519136
NM_024408.4(NOTCH2):c.3759G>A (p.Leu1253=)	SNV Germline	Chr1:119929109	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications	CA1039969	rs_143045192	2 SubmittersRCV000289223 RCV002519137
NM_024408.4(NOTCH2):c.6159C>T (p.Arg2053=)	SNV Germline	Chr1:119916563	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications	CA1039474	rs_143282787	2 SubmittersRCV000285960 RCV002059131
NM_024408.4(NOTCH2):c.4897G>A (p.Val1633Ile)	SNV Germline	Chr1:119922741	Conflicting classifications of pathogenicity	not specified Hajdu-Cheney syndrome Condition: not provided NOTCH2-related disorder	Criteria Provided Conflicting Classifications	CA1039771	rs_116321057	5 SubmittersRCV000268720 RCV000556572 RCV001753744 RCV003897609
NM_024408.4(NOTCH2):c.6496T>C (p.Ser2166Pro)	SNV Germline	Chr1:119916226	Conflicting classifications of pathogenicity	Condition: not provided Alagille syndrome due to a NOTCH2 point mutation Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications	CA10604764	rs_886042848	2 SubmittersRCV000357190 RCV004725140
NM_024408.4(NOTCH2):c.3205C>A (p.Arg1069=)	SNV Germline	Chr1:119937989	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications	CA1040121	rs_61752485	2 SubmittersRCV000328151 RCV000529648
NM_024408.4(NOTCH2):c.6028-4G>A	SNV Germline	Chr1:119916698	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome NOTCH2-related disorder	Criteria Provided Conflicting Classifications	CA1039502	rs_372465730	3 SubmittersRCV000318641 RCV003633495 RCV003977798
NM_024408.4(NOTCH2):c.4312G>A (p.Val1438Ile)	SNV Germline	Chr1:119925504	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome NOTCH2-related disorder	Criteria Provided Conflicting Classifications	CA1039872	rs_745861610	3 SubmittersRCV000359132 RCV001514294 RCV003897634
NM_024408.4(NOTCH2):c.6477G>A (p.Thr2159=)	SNV Germline	Chr1:119916245	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome NOTCH2-related disorder	Criteria Provided Conflicting Classifications	CA1039422	rs_145566650	4 SubmittersRCV000374286 RCV002059244 RCV003940057
NM_024408.4(NOTCH2):c.5781+10A>C	SNV Germline	Chr1:119919302	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome NOTCH2-related disorder	Criteria Provided Conflicting Classifications	CA1039574	rs_369586235	3 SubmittersRCV000259633 RCV003522955 RCV003967785
NM_024408.4(NOTCH2):c.1554C>T (p.Cys518=)	SNV Germline	Chr1:119966389	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications	CA1040529	rs_138817140	2 SubmittersRCV000350930 RCV002059260
NM_024408.4(NOTCH2):c.956A>G (p.Asn319Ser)	SNV Germline	Chr1:119969663	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome NOTCH2-related disorder	Criteria Provided Conflicting Classifications	CA1040640	rs_144936899	3 SubmittersRCV000368673 RCV000552666 RCV003949938
NM_024408.4(NOTCH2):c.7263T>A (p.Ser2421=)	SNV Germline	Chr1:119915459	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome NOTCH2-related disorder	Criteria Provided Conflicting Classifications	CA1039297	rs_369912969	3 SubmittersRCV000342906 RCV003105853 RCV003957512
NM_024408.4(NOTCH2):c.5218C>A (p.Leu1740Ile)	SNV Germline	Chr1:119921805	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications	CA1039686	rs_747138507	2 SubmittersRCV000404846 RCV000691348
NM_024408.4(NOTCH2):c.6999G>A (p.Ala2333=)	SNV Germline	Chr1:119915723	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome Alagille syndrome due to a NOTCH2 point mutation Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications	CA1039338	rs_760004891	3 SubmittersRCV000353065 RCV002518153 RCV002502157
NM_024408.4(NOTCH2):c.6363G>C (p.Lys2121Asn)	SNV Germline	Chr1:119916359	Conflicting classifications of pathogenicity	Condition: not provided not specified Hajdu-Cheney syndrome NOTCH2-related disorder	Criteria Provided Conflicting Classifications	CA1039439	rs_144047610	6 SubmittersRCV000301106 RCV001820842 RCV001859732 RCV003957526
NM_024408.4(NOTCH2):c.6893G>A (p.Arg2298Gln)	SNV Germline	Chr1:119915829	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	CA1039360	rs_140832430	4 SubmittersRCV000405161 RCV000764961 RCV002061146 RCV003422203
NM_024408.4(NOTCH2):c.1567+8C>T	SNV Germline	Chr1:119966368	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome NOTCH2-related disorder	Criteria Provided Conflicting Classifications	CA1040523	rs_372367275	5 SubmittersRCV000593705 RCV001082679 RCV003935591
NM_024408.4(NOTCH2):c.5103A>G (p.Lys1701=)	SNV Germline	Chr1:119922346	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications	CA1039719	rs_201233415	3 SubmittersRCV000594137 RCV002062009
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	Criteria Provided Conflicting Classifications	CA1039304	rs_587654671	3 SubmittersRCV000591336 RCV002532381 RCV003905515
NM_024408.4(NOTCH2):c.1245T>C (p.Asp415=)	SNV Germline	Chr1:119968096	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications	CA1040594	rs_782057759	2 SubmittersRCV000597244 RCV002065146
NM_024408.4(NOTCH2):c.5958T>C (p.Ala1986=)	SNV Germline	Chr1:119917734	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome NOTCH2-related disorder	Criteria Provided Conflicting Classifications	CA1039529	rs_563486507	3 SubmittersRCV000593446 RCV002532406 RCV004740350
NM_024408.4(NOTCH2):c.6957G>A (p.Ala2319=)	SNV Germline	Chr1:119915765	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome NOTCH2-related disorder	Criteria Provided Conflicting Classifications	CA1039349	rs_369891453	4 SubmittersRCV000593591 RCV002065157 RCV003927911
NM_024408.4(NOTCH2):c.3235G>A (p.Val1079Ile)	SNV Germline	Chr1:119937959	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications	CA1040115	rs_368918146	2 SubmittersRCV000597289 RCV002062034
NM_024408.4(NOTCH2):c.7368G>A (p.Gly2456=)	SNV Germline	Chr1:119915354	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications	CA1039278	rs_759456867	2 SubmittersRCV000596545 RCV002532443
NM_024408.4(NOTCH2):c.2388T>A (p.Ile796=)	SNV Germline	Chr1:119950815	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome NOTCH2-related disorder	Criteria Provided Conflicting Classifications	CA1040311	rs_138943874	3 SubmittersRCV000594782 RCV002532453 RCV003900321
NM_024408.4(NOTCH2):c.3789A>C (p.Gly1263=)	SNV Germline	Chr1:119929079	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome NOTCH2-related disorder	Criteria Provided Conflicting Classifications	CA30320395	rs_149036937	3 SubmittersRCV000591481 RCV002532465 RCV003980086
NM_024408.4(NOTCH2):c.1134A>G (p.Ala378=)	SNV Germline	Chr1:119968207	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome NOTCH2-related disorder	Criteria Provided Conflicting Classifications	CA1040602	rs_782178170	3 SubmittersRCV000596158 RCV003117364 RCV004740353
NM_024408.4(NOTCH2):c.1804G>A (p.Ala602Thr)	SNV Germline	Chr1:119963685	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome NOTCH2-related disorder	Criteria Provided Conflicting Classifications	CA1040450	rs_140311741	7 SubmittersRCV000595171 RCV000693115 RCV003952977
NM_024408.4(NOTCH2):c.1791C>T (p.Pro597=)	SNV Germline	Chr1:119963698	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome NOTCH2-related disorder	Criteria Provided Conflicting Classifications	CA1040455	rs_781999109	3 SubmittersRCV000595469 RCV002531066 RCV003952981
NM_024408.4(NOTCH2):c.1653G>A (p.Pro551=)	SNV Germline	Chr1:119965481	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications	CA1040488	rs_187731832	2 SubmittersRCV000594946 RCV002062071
NM_024408.4(NOTCH2):c.4929G>A (p.Thr1643=)	SNV Germline	Chr1:119922709	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome NOTCH2-related disorder	Criteria Provided Conflicting Classifications	CA1039768	rs_587697719	3 SubmittersRCV000594207 RCV002062075 RCV003952982
NM_024408.4(NOTCH2):c.5480-7C>T	SNV Germline	Chr1:119919620	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications	CA1039615	rs_368724241	2 SubmittersRCV000593612 RCV002532549
NM_024408.4(NOTCH2):c.5123C>T (p.Ser1708Phe)	SNV Germline	Chr1:119922326	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications	CA1039716	rs_761415665	2 SubmittersRCV000593654 RCV002065169
NM_024408.4(NOTCH2):c.4185T>A (p.Pro1395=)	SNV Germline	Chr1:119925631	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications	CA420191180	rs_1553194472	2 SubmittersRCV000591123 RCV003633518
NM_024408.4(NOTCH2):c.875-9C>G	SNV Germline	Chr1:119969753	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome Alagille syndrome due to a NOTCH2 point mutation Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications	CA526249902	rs_1324363153	3 SubmittersRCV000597523 RCV002476332 RCV003633519
NM_024408.4(NOTCH2):c.6027+10G>T	SNV Germline	Chr1:119917655	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications	CA1039518	rs_774867522	2 SubmittersRCV000593702 RCV001510722
NM_024408.4(NOTCH2):c.7078C>T (p.Gln2360Ter)	SNV Germline	Chr1:119915644	Pathogenic	Hajdu-Cheney syndrome	No Assertion Criteria Provided	CA341873665	rs_1553193485	1 SubmittersRCV000617018
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	6 SubmittersRCV000617014 RCV002508237 RCV004760646
NM_024408.4(NOTCH2):c.6853C>T (p.Gln2285Ter)	SNV Germline	Chr1:119915869	Pathogenic/Likely pathogenic	Hajdu-Cheney syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1553193507	2 SubmittersRCV000656524
NM_024408.4(NOTCH2):c.4973C>T (p.Thr1658Ile)	SNV Germline	Chr1:119922665	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome NOTCH2-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_142462128	4 SubmittersRCV000728271 RCV001234445 RCV003980361 RCV004639340
NM_024408.4(NOTCH2):c.3702T>C (p.His1234=)	SNV Germline	Chr1:119929166	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome NOTCH2-related disorder	Criteria Provided Conflicting Classifications		rs_376503331	3 SubmittersRCV000728693 RCV002535084 RCV003892607
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 NOTCH2-related disorder Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications		rs_782642000	4 SubmittersRCV000729258 RCV002477692 RCV003947920 RCV003633537
NM_024408.4(NOTCH2):c.5782-10C>T	SNV Germline	Chr1:119918563	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications		rs_1220746088	2 SubmittersRCV000729466 RCV003633538
NM_024408.4(NOTCH2):c.5074A>G (p.Ile1692Val)	SNV Germline	Chr1:119922375	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome NOTCH2-related disorder	Criteria Provided Conflicting Classifications		rs_143134864	3 SubmittersRCV000729663 RCV002067097 RCV003953304
NM_024408.4(NOTCH2):c.2830G>T (p.Asp944Tyr)	SNV Germline	Chr1:119941677	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome NOTCH2-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_151130105	6 SubmittersRCV000729664 RCV002060979 RCV003953305 RCV004026976
NM_024408.4(NOTCH2):c.2578T>C (p.Leu860=)	SNV Germline	Chr1:119949028	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications		rs_200524116	2 SubmittersRCV000729756 RCV002060980
NM_024408.4(NOTCH2):c.6042G>C (p.Leu2014=)	SNV Germline	Chr1:119916680	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications		rs_1000209105	2 SubmittersRCV000729791 RCV002067099
NM_024408.4(NOTCH2):c.7338G>A (p.Gly2446=)	SNV Germline	Chr1:119915384	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications		rs_372087953	2 SubmittersRCV000729930 RCV002060985
NM_024408.4(NOTCH2):c.2366-9T>C	SNV Germline	Chr1:119950846	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications		rs_368664174	2 SubmittersRCV000730120 RCV002536439
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 Hajdu-Cheney syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_764210725	4 SubmittersRCV000731226 RCV002507295 RCV003633539 RCV003353010
NM_024408.4(NOTCH2):c.6307T>A (p.Ser2103Thr)	SNV Germline	Chr1:119916415	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome NOTCH2-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_779311707	4 SubmittersRCV000731300 RCV002067116 RCV003892634 RCV004027004
NM_024408.4(NOTCH2):c.6673C>T (p.Leu2225=)	SNV Germline	Chr1:119916049	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications		rs_1314464356	2 SubmittersRCV000731441 RCV003117531
NM_024408.4(NOTCH2):c.4002C>G (p.Pro1334=)	SNV Germline	Chr1:119926502	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome NOTCH2-related disorder	Criteria Provided Conflicting Classifications		rs_1390174762	3 SubmittersRCV000731572 RCV002067122 RCV003947933
NM_024408.4(NOTCH2):c.786T>C (p.Asp262=)	SNV Germline	Chr1:119987048	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications		rs_374224226	3 SubmittersRCV000731775 RCV002067125
NM_024408.4(NOTCH2):c.2752+8T>C	SNV Germline	Chr1:119948406	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications		rs_587621243	2 SubmittersRCV000731930 RCV002535245
NM_024408.4(NOTCH2):c.2816C>T (p.Pro939Leu)	SNV Germline	Chr1:119941691	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome NOTCH2-related disorder	Criteria Provided Conflicting Classifications		rs_201100122	4 SubmittersRCV000732627 RCV002067136 RCV003411679
NM_024408.4(NOTCH2):c.6140G>A (p.Arg2047Gln)	SNV Germline	Chr1:119916582	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome NOTCH2-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_371060516	4 SubmittersRCV000733080 RCV002067141 RCV004723146 RCV004027050
NM_024408.4(NOTCH2):c.2949T>C (p.His983=)	SNV Germline	Chr1:119941558	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications		rs_1557814141	2 SubmittersRCV000733109 RCV002067143
NM_024408.4(NOTCH2):c.5177G>A (p.Arg1726His)	SNV Germline	Chr1:119922272	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome NOTCH2-related disorder Alagille syndrome due to a NOTCH2 point mutation	Criteria Provided Conflicting Classifications		rs_1557804884	4 SubmittersRCV000733343 RCV001868985 RCV003396310 RCV004564463
NM_024408.4(NOTCH2):c.3252G>A (p.Glu1084=)	SNV Germline	Chr1:119937942	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome NOTCH2-related disorder	Criteria Provided Conflicting Classifications		rs_372751663	3 SubmittersRCV000733523 RCV002535336 RCV003975288
NM_024408.4(NOTCH2):c.4992G>A (p.Val1664=)	SNV Germline	Chr1:119922646	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome NOTCH2-related disorder	Criteria Provided Conflicting Classifications		rs_587748556	3 SubmittersRCV000733754 RCV002067156 RCV003892664
NM_024408.4(NOTCH2):c.6270T>G (p.Ser2090=)	SNV Germline	Chr1:119916452	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications		rs_747743815	2 SubmittersRCV000733980 RCV002061017
NM_024408.4(NOTCH2):c.1635A>G (p.Ala545=)	SNV Germline	Chr1:119965499	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications		rs_193116983	2 SubmittersRCV000734157 RCV003523021
NM_024408.4(NOTCH2):c.6222C>T (p.Thr2074=)	SNV Germline	Chr1:119916500	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications		rs_764335447	2 SubmittersRCV000734851 RCV002536528
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		rs_1174406807	3 SubmittersRCV000986404 RCV001312091 RCV003313982
NM_024408.4(NOTCH2):c.4174C>T (p.Gln1392Ter)	SNV Germline	Chr1:119925642	Pathogenic	Hajdu-Cheney syndrome	Criteria Provided Single Submitter		rs_1649449471	1 SubmittersRCV001048880
NM_024408.4(NOTCH2):c.5105G>A (p.Arg1702Gln)	SNV Germline	Chr1:119922344	Conflicting classifications of pathogenicity	Premature ovarian failure Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications		rs_999822357	2 SubmittersRCV001270188 RCV001863079
NM_024408.4(NOTCH2):c.5684G>A (p.Arg1895His)	SNV Germline	Chr1:119919409	Conflicting classifications of pathogenicity	Hajdu-Cheney syndrome not specified Alagille syndrome due to a NOTCH2 point mutation Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications		rs_201996575	3 SubmittersRCV001224894 RCV003987800 RCV002484219
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		rs_1553195867	4 SubmittersRCV001246620 RCV002282499 RCV004740631 RCV004960648
NM_024408.4(NOTCH2):c.1668C>A (p.Cys556Ter)	SNV Germline	Chr1:119965466	Pathogenic	Hajdu-Cheney syndrome	Criteria Provided Single Submitter		rs_2101139955	1 SubmittersRCV001380501
NM_024408.4(NOTCH2):c.3109G>A (p.Glu1037Lys)	SNV Germline	Chr1:119940629	Conflicting classifications of pathogenicity	Hajdu-Cheney syndrome NOTCH2-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_782463588	3 SubmittersRCV001503620 RCV003966034 RCV004037443
NM_024408.4(NOTCH2):c.3508G>T (p.Gly1170Ter)	SNV Germline	Chr1:119937296	Likely pathogenic	Hajdu-Cheney syndrome	Criteria Provided Single Submitter		rs_2101098803	1 SubmittersRCV001533199
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		rs_148613210	3 SubmittersRCV001758446 RCV002282575 RCV002540407
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		rs_2101143618	1 SubmittersRCV001799543
NM_024408.4(NOTCH2):c.5276T>C (p.Val1759Ala)	SNV Germline	Chr1:119921747	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications		rs_373166152	2 SubmittersRCV001816060 RCV002541505
NM_024408.4(NOTCH2):c.4228C>T (p.Arg1410Cys)	SNV Germline	Chr1:119925588	Conflicting classifications of pathogenicity	Hajdu-Cheney syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_145799900	2 SubmittersRCV002118595 RCV004793736
NM_024408.4(NOTCH2):c.4688G>A (p.Arg1563His)	SNV Germline	Chr1:119923808	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications		rs_767706572	2 SubmittersRCV002226159 RCV003523118
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		rs_782728045	5 SubmittersRCV002261859 RCV002496195 RCV003095903 RCV003395436 RCV004958514
NM_024408.4(NOTCH2):c.6667C>T (p.Gln2223Ter)	SNV Germline	Chr1:119916055	Pathogenic	Hajdu-Cheney syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002471963
NM_024408.4(NOTCH2):c.7030G>T (p.Glu2344Ter)	SNV Germline	Chr1:119915692	Pathogenic	Hajdu-Cheney syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002814380
NM_024408.4(NOTCH2):c.901G>T (p.Glu301Ter)	SNV Germline	Chr1:119969718	Pathogenic	Hajdu-Cheney syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002863686
NM_024408.4(NOTCH2):c.7099C>T (p.Gln2367Ter)	SNV Germline	Chr1:119915623	Pathogenic	Hajdu-Cheney syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003055693
NM_024408.4(NOTCH2):c.6106C>T (p.Arg2036Ter)	SNV Germline	Chr1:119916616	Conflicting classifications of pathogenicity	Condition: not provided Hajdu-Cheney syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV003406719 RCV003633717
NM_024408.4(NOTCH2):c.5356C>T (p.Arg1786Ter)	SNV Germline	Chr1:119920352	Pathogenic	Hajdu-Cheney syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003633895
NM_024408.4(NOTCH2):c.5781+1G>T	SNV Germline	Chr1:119919311	Likely pathogenic	Hajdu-Cheney syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003634596
NM_024408.4(NOTCH2):c.5987T>A (p.Leu1996Ter)	SNV Germline	Chr1:119917705	Pathogenic	Hajdu-Cheney syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003862348
NM_024408.4(NOTCH2):c.337C>T (p.Arg113Ter)	SNV Germline	Chr1:120005407	Likely pathogenic	Hajdu-Cheney syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003984997

NM_024408.4(NOTCH2):c.6622C>T (p.Gln2208Ter)

SNV
Germline

Chr1:119916100

Pathogenic

Hajdu-Cheney syndrome

No Assertion Criteria Provided

CA128895

rs_387906746

1 SubmittersRCV000022959

NM_024408.4(NOTCH2):c.7119T>G (p.Tyr2373Ter)

SNV
Germline

Chr1:119915603

Pathogenic

Hajdu-Cheney syndrome

No Assertion Criteria Provided

rs_1557801639

1 SubmittersRCV000022960

NM_024408.4(NOTCH2):c.6949C>T (p.Gln2317Ter)

SNV
Germline

Chr1:119915773

Pathogenic

Hajdu-Cheney syndrome

No Assertion Criteria Provided

CA128897

rs_387906747

1 SubmittersRCV000022961

NM_024408.4(NOTCH2):c.6895G>T (p.Glu2299Ter)

SNV
Germline

Chr1:119915827

Pathogenic

Hajdu-Cheney syndrome

No Assertion Criteria Provided

CA128899

rs_387906748

1 SubmittersRCV000022962

NM_024408.4(NOTCH2):c.7165C>T (p.Gln2389Ter)

SNV
Germline

Chr1:119915557

Pathogenic

Hajdu-Cheney syndrome

No Assertion Criteria Provided

CA128901

rs_387906749

1 SubmittersRCV000022963

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
Hajdu-Cheney syndrome
NOTCH2-related disorder

Criteria Provided
Conflicting Classifications

CA161257

rs_146014987

5 SubmittersRCV000121715 RCV000725834 RCV000764962 RCV002515888 RCV003892113

NM_024408.4(NOTCH2):c.5161G>A (p.Ala1721Thr)

SNV
Germline

Chr1:119922288

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hajdu-Cheney syndrome
NOTCH2-related disorder

Criteria Provided
Conflicting Classifications

CA161285

rs_115013051

4 SubmittersRCV000121729 RCV000728639 RCV001497958 RCV003905162

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

SNV
Germline

Chr1:119915743

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA161291

rs_587778578

5 SubmittersRCV000121732 RCV000729463 RCV002483225 RCV002517602 RCV004739418

NM_024408.4(NOTCH2):c.4041A>G (p.Gly1347=)

SNV
Germline

Chr1:119925775

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

CA242576

rs_753043164

2 SubmittersRCV000176589 RCV002054080

NM_024408.4(NOTCH2):c.4740G>A (p.Lys1580=)

SNV
Germline

Chr1:119923756

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome
NOTCH2-related disorder

Criteria Provided
Conflicting Classifications

CA242713

rs_367699419

3 SubmittersRCV000176689 RCV000638610 RCV003955050

NM_024408.4(NOTCH2):c.5871G>A (p.Glu1957=)

SNV
Germline

Chr1:119918464

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

CA244167

rs_587718458

2 SubmittersRCV000177659 RCV001236924

NM_024408.4(NOTCH2):c.7413G>A (p.Ala2471=)

SNV
Germline

Chr1:119915309

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome
NOTCH2-related disorder

Criteria Provided
Conflicting Classifications

CA244741

rs_771638958

3 SubmittersRCV000177811 RCV002516755 RCV003947508

NM_024408.4(NOTCH2):c.6766C>T (p.Arg2256Cys)

SNV
Germline

Chr1:119915956

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome
NOTCH2-related disorder

Criteria Provided
Conflicting Classifications

CA244745

rs_147522485

4 SubmittersRCV000177813 RCV002054103 RCV003947509

NM_024408.4(NOTCH2):c.2196A>C (p.Gly732=)

SNV
Germline

Chr1:119955063

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

CA1040367

rs_782101275

3 SubmittersRCV000244994 RCV000726704 RCV002058328

NM_024408.4(NOTCH2):c.6787C>T (p.Gln2263Ter)

SNV
Germline

Chr1:119915935

Pathogenic

Condition: not provided
Hajdu-Cheney syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10602736

rs_886041862

3 SubmittersRCV000396824 RCV003633494

NM_024408.4(NOTCH2):c.4938A>G (p.Ala1646=)

SNV
Germline

Chr1:119922700

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

CA10604034

rs_886042285

2 SubmittersRCV000384147 RCV002059099

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

Criteria Provided
Conflicting Classifications

CA1039440

rs_148393324

3 SubmittersRCV000276229 RCV002059111 RCV002519113

NM_024408.4(NOTCH2):c.1287T>C (p.His429=)

SNV
Germline

Chr1:119967599

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

CA1040566

rs_377469966

2 SubmittersRCV000305517 RCV002519136

NM_024408.4(NOTCH2):c.3759G>A (p.Leu1253=)

SNV
Germline

Chr1:119929109

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

CA1039969

rs_143045192

2 SubmittersRCV000289223 RCV002519137

NM_024408.4(NOTCH2):c.6159C>T (p.Arg2053=)

SNV
Germline

Chr1:119916563

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

CA1039474

rs_143282787

2 SubmittersRCV000285960 RCV002059131

NM_024408.4(NOTCH2):c.4897G>A (p.Val1633Ile)

SNV
Germline

Chr1:119922741

Conflicting classifications of pathogenicity

not specified
Hajdu-Cheney syndrome
Condition: not provided
NOTCH2-related disorder

Criteria Provided
Conflicting Classifications

CA1039771

rs_116321057

5 SubmittersRCV000268720 RCV000556572 RCV001753744 RCV003897609

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

SNV
Germline

Chr1:119916226

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10604764

rs_886042848

2 SubmittersRCV000357190 RCV004725140

NM_024408.4(NOTCH2):c.3205C>A (p.Arg1069=)

SNV
Germline

Chr1:119937989

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

CA1040121

rs_61752485

2 SubmittersRCV000328151 RCV000529648

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

SNV
Germline

Chr1:119916698

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome
NOTCH2-related disorder

Criteria Provided
Conflicting Classifications

CA1039502

rs_372465730

3 SubmittersRCV000318641 RCV003633495 RCV003977798

NM_024408.4(NOTCH2):c.4312G>A (p.Val1438Ile)

SNV
Germline

Chr1:119925504

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome
NOTCH2-related disorder

Criteria Provided
Conflicting Classifications

CA1039872

rs_745861610

3 SubmittersRCV000359132 RCV001514294 RCV003897634

NM_024408.4(NOTCH2):c.6477G>A (p.Thr2159=)

SNV
Germline

Chr1:119916245

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome
NOTCH2-related disorder

Criteria Provided
Conflicting Classifications

CA1039422

rs_145566650

4 SubmittersRCV000374286 RCV002059244 RCV003940057

NM_024408.4(NOTCH2):c.5781+10A>C

SNV
Germline

Chr1:119919302

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome
NOTCH2-related disorder

Criteria Provided
Conflicting Classifications

CA1039574

rs_369586235

3 SubmittersRCV000259633 RCV003522955 RCV003967785

NM_024408.4(NOTCH2):c.1554C>T (p.Cys518=)

SNV
Germline

Chr1:119966389

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

CA1040529

rs_138817140

2 SubmittersRCV000350930 RCV002059260

NM_024408.4(NOTCH2):c.956A>G (p.Asn319Ser)

SNV
Germline

Chr1:119969663

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome
NOTCH2-related disorder

Criteria Provided
Conflicting Classifications

CA1040640

rs_144936899

3 SubmittersRCV000368673 RCV000552666 RCV003949938

NM_024408.4(NOTCH2):c.7263T>A (p.Ser2421=)

SNV
Germline

Chr1:119915459

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome
NOTCH2-related disorder

Criteria Provided
Conflicting Classifications

CA1039297

rs_369912969

3 SubmittersRCV000342906 RCV003105853 RCV003957512

NM_024408.4(NOTCH2):c.5218C>A (p.Leu1740Ile)

SNV
Germline

Chr1:119921805

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

CA1039686

rs_747138507

2 SubmittersRCV000404846 RCV000691348

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

SNV
Germline

Chr1:119915723

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1039338

rs_760004891

3 SubmittersRCV000353065 RCV002518153 RCV002502157

NM_024408.4(NOTCH2):c.6363G>C (p.Lys2121Asn)

SNV
Germline

Chr1:119916359

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hajdu-Cheney syndrome
NOTCH2-related disorder

Criteria Provided
Conflicting Classifications

CA1039439

rs_144047610

6 SubmittersRCV000301106 RCV001820842 RCV001859732 RCV003957526

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

SNV
Germline

Chr1:119915829

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

CA1039360

rs_140832430

4 SubmittersRCV000405161 RCV000764961 RCV002061146 RCV003422203

NM_024408.4(NOTCH2):c.1567+8C>T

SNV
Germline

Chr1:119966368

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome
NOTCH2-related disorder

Criteria Provided
Conflicting Classifications

CA1040523

rs_372367275

5 SubmittersRCV000593705 RCV001082679 RCV003935591

NM_024408.4(NOTCH2):c.5103A>G (p.Lys1701=)

SNV
Germline

Chr1:119922346

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

CA1039719

rs_201233415

3 SubmittersRCV000594137 RCV002062009

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

Criteria Provided
Conflicting Classifications

CA1039304

rs_587654671

3 SubmittersRCV000591336 RCV002532381 RCV003905515

NM_024408.4(NOTCH2):c.1245T>C (p.Asp415=)

SNV
Germline

Chr1:119968096

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

CA1040594

rs_782057759

2 SubmittersRCV000597244 RCV002065146

NM_024408.4(NOTCH2):c.5958T>C (p.Ala1986=)

SNV
Germline

Chr1:119917734

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome
NOTCH2-related disorder

Criteria Provided
Conflicting Classifications

CA1039529

rs_563486507

3 SubmittersRCV000593446 RCV002532406 RCV004740350

NM_024408.4(NOTCH2):c.6957G>A (p.Ala2319=)

SNV
Germline

Chr1:119915765

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome
NOTCH2-related disorder

Criteria Provided
Conflicting Classifications

CA1039349

rs_369891453

4 SubmittersRCV000593591 RCV002065157 RCV003927911

NM_024408.4(NOTCH2):c.3235G>A (p.Val1079Ile)

SNV
Germline

Chr1:119937959

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

CA1040115

rs_368918146

2 SubmittersRCV000597289 RCV002062034

NM_024408.4(NOTCH2):c.7368G>A (p.Gly2456=)

SNV
Germline

Chr1:119915354

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

CA1039278

rs_759456867

2 SubmittersRCV000596545 RCV002532443

NM_024408.4(NOTCH2):c.2388T>A (p.Ile796=)

SNV
Germline

Chr1:119950815

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome
NOTCH2-related disorder

Criteria Provided
Conflicting Classifications

CA1040311

rs_138943874

3 SubmittersRCV000594782 RCV002532453 RCV003900321

NM_024408.4(NOTCH2):c.3789A>C (p.Gly1263=)

SNV
Germline

Chr1:119929079

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome
NOTCH2-related disorder

Criteria Provided
Conflicting Classifications

CA30320395

rs_149036937

3 SubmittersRCV000591481 RCV002532465 RCV003980086

NM_024408.4(NOTCH2):c.1134A>G (p.Ala378=)

SNV
Germline

Chr1:119968207

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome
NOTCH2-related disorder

Criteria Provided
Conflicting Classifications

CA1040602

rs_782178170

3 SubmittersRCV000596158 RCV003117364 RCV004740353

NM_024408.4(NOTCH2):c.1804G>A (p.Ala602Thr)

SNV
Germline

Chr1:119963685

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome
NOTCH2-related disorder

Criteria Provided
Conflicting Classifications

CA1040450

rs_140311741

7 SubmittersRCV000595171 RCV000693115 RCV003952977

NM_024408.4(NOTCH2):c.1791C>T (p.Pro597=)

SNV
Germline

Chr1:119963698

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome
NOTCH2-related disorder

Criteria Provided
Conflicting Classifications

CA1040455

rs_781999109

3 SubmittersRCV000595469 RCV002531066 RCV003952981

NM_024408.4(NOTCH2):c.1653G>A (p.Pro551=)

SNV
Germline

Chr1:119965481

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

CA1040488

rs_187731832

2 SubmittersRCV000594946 RCV002062071

NM_024408.4(NOTCH2):c.4929G>A (p.Thr1643=)

SNV
Germline

Chr1:119922709

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome
NOTCH2-related disorder

Criteria Provided
Conflicting Classifications

CA1039768

rs_587697719

3 SubmittersRCV000594207 RCV002062075 RCV003952982

NM_024408.4(NOTCH2):c.5480-7C>T

SNV
Germline

Chr1:119919620

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

CA1039615

rs_368724241

2 SubmittersRCV000593612 RCV002532549

NM_024408.4(NOTCH2):c.5123C>T (p.Ser1708Phe)

SNV
Germline

Chr1:119922326

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

CA1039716

rs_761415665

2 SubmittersRCV000593654 RCV002065169

NM_024408.4(NOTCH2):c.4185T>A (p.Pro1395=)

SNV
Germline

Chr1:119925631

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

CA420191180

rs_1553194472

2 SubmittersRCV000591123 RCV003633518

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

SNV
Germline

Chr1:119969753

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA526249902

rs_1324363153

3 SubmittersRCV000597523 RCV002476332 RCV003633519

NM_024408.4(NOTCH2):c.6027+10G>T

SNV
Germline

Chr1:119917655

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

CA1039518

rs_774867522

2 SubmittersRCV000593702 RCV001510722

NM_024408.4(NOTCH2):c.7078C>T (p.Gln2360Ter)

SNV
Germline

Chr1:119915644

Pathogenic

Hajdu-Cheney syndrome

No Assertion Criteria Provided

CA341873665

rs_1553193485

1 SubmittersRCV000617018

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

6 SubmittersRCV000617014 RCV002508237 RCV004760646

NM_024408.4(NOTCH2):c.6853C>T (p.Gln2285Ter)

SNV
Germline

Chr1:119915869

Pathogenic/Likely pathogenic

Hajdu-Cheney syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553193507

2 SubmittersRCV000656524

NM_024408.4(NOTCH2):c.4973C>T (p.Thr1658Ile)

SNV
Germline

Chr1:119922665

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome
NOTCH2-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_142462128

4 SubmittersRCV000728271 RCV001234445 RCV003980361 RCV004639340

NM_024408.4(NOTCH2):c.3702T>C (p.His1234=)

SNV
Germline

Chr1:119929166

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome
NOTCH2-related disorder

Criteria Provided
Conflicting Classifications

rs_376503331

3 SubmittersRCV000728693 RCV002535084 RCV003892607

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
NOTCH2-related disorder
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

rs_782642000

4 SubmittersRCV000729258 RCV002477692 RCV003947920 RCV003633537

NM_024408.4(NOTCH2):c.5782-10C>T

SNV
Germline

Chr1:119918563

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

rs_1220746088

2 SubmittersRCV000729466 RCV003633538

NM_024408.4(NOTCH2):c.5074A>G (p.Ile1692Val)

SNV
Germline

Chr1:119922375

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome
NOTCH2-related disorder

Criteria Provided
Conflicting Classifications

rs_143134864

3 SubmittersRCV000729663 RCV002067097 RCV003953304

NM_024408.4(NOTCH2):c.2830G>T (p.Asp944Tyr)

SNV
Germline

Chr1:119941677

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome
NOTCH2-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_151130105

6 SubmittersRCV000729664 RCV002060979 RCV003953305 RCV004026976

NM_024408.4(NOTCH2):c.2578T>C (p.Leu860=)

SNV
Germline

Chr1:119949028

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

rs_200524116

2 SubmittersRCV000729756 RCV002060980

NM_024408.4(NOTCH2):c.6042G>C (p.Leu2014=)

SNV
Germline

Chr1:119916680

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

rs_1000209105

2 SubmittersRCV000729791 RCV002067099

NM_024408.4(NOTCH2):c.7338G>A (p.Gly2446=)

SNV
Germline

Chr1:119915384

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

rs_372087953

2 SubmittersRCV000729930 RCV002060985

NM_024408.4(NOTCH2):c.2366-9T>C

SNV
Germline

Chr1:119950846

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

rs_368664174

2 SubmittersRCV000730120 RCV002536439

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
Hajdu-Cheney syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_764210725

4 SubmittersRCV000731226 RCV002507295 RCV003633539 RCV003353010

NM_024408.4(NOTCH2):c.6307T>A (p.Ser2103Thr)

SNV
Germline

Chr1:119916415

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome
NOTCH2-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_779311707

4 SubmittersRCV000731300 RCV002067116 RCV003892634 RCV004027004

NM_024408.4(NOTCH2):c.6673C>T (p.Leu2225=)

SNV
Germline

Chr1:119916049

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

rs_1314464356

2 SubmittersRCV000731441 RCV003117531

NM_024408.4(NOTCH2):c.4002C>G (p.Pro1334=)

SNV
Germline

Chr1:119926502

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome
NOTCH2-related disorder

Criteria Provided
Conflicting Classifications

rs_1390174762

3 SubmittersRCV000731572 RCV002067122 RCV003947933

NM_024408.4(NOTCH2):c.786T>C (p.Asp262=)

SNV
Germline

Chr1:119987048

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

rs_374224226

3 SubmittersRCV000731775 RCV002067125

NM_024408.4(NOTCH2):c.2752+8T>C

SNV
Germline

Chr1:119948406

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

rs_587621243

2 SubmittersRCV000731930 RCV002535245

NM_024408.4(NOTCH2):c.2816C>T (p.Pro939Leu)

SNV
Germline

Chr1:119941691

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome
NOTCH2-related disorder

Criteria Provided
Conflicting Classifications

rs_201100122

4 SubmittersRCV000732627 RCV002067136 RCV003411679

NM_024408.4(NOTCH2):c.6140G>A (p.Arg2047Gln)

SNV
Germline

Chr1:119916582

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome
NOTCH2-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_371060516

4 SubmittersRCV000733080 RCV002067141 RCV004723146 RCV004027050

NM_024408.4(NOTCH2):c.2949T>C (p.His983=)

SNV
Germline

Chr1:119941558

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

rs_1557814141

2 SubmittersRCV000733109 RCV002067143

NM_024408.4(NOTCH2):c.5177G>A (p.Arg1726His)

SNV
Germline

Chr1:119922272

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1557804884

4 SubmittersRCV000733343 RCV001868985 RCV003396310 RCV004564463

NM_024408.4(NOTCH2):c.3252G>A (p.Glu1084=)

SNV
Germline

Chr1:119937942

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome
NOTCH2-related disorder

Criteria Provided
Conflicting Classifications

rs_372751663

3 SubmittersRCV000733523 RCV002535336 RCV003975288

NM_024408.4(NOTCH2):c.4992G>A (p.Val1664=)

SNV
Germline

Chr1:119922646

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome
NOTCH2-related disorder

Criteria Provided
Conflicting Classifications

rs_587748556

3 SubmittersRCV000733754 RCV002067156 RCV003892664

NM_024408.4(NOTCH2):c.6270T>G (p.Ser2090=)

SNV
Germline

Chr1:119916452

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

rs_747743815

2 SubmittersRCV000733980 RCV002061017

NM_024408.4(NOTCH2):c.1635A>G (p.Ala545=)

SNV
Germline

Chr1:119965499

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

rs_193116983

2 SubmittersRCV000734157 RCV003523021

NM_024408.4(NOTCH2):c.6222C>T (p.Thr2074=)

SNV
Germline

Chr1:119916500

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

rs_764335447

2 SubmittersRCV000734851 RCV002536528

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

rs_1174406807

3 SubmittersRCV000986404 RCV001312091 RCV003313982

NM_024408.4(NOTCH2):c.4174C>T (p.Gln1392Ter)

SNV
Germline

Chr1:119925642

Pathogenic

Hajdu-Cheney syndrome

Criteria Provided
Single Submitter

rs_1649449471

1 SubmittersRCV001048880

NM_024408.4(NOTCH2):c.5105G>A (p.Arg1702Gln)

SNV
Germline

Chr1:119922344

Conflicting classifications of pathogenicity

Premature ovarian failure
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

rs_999822357

2 SubmittersRCV001270188 RCV001863079

NM_024408.4(NOTCH2):c.5684G>A (p.Arg1895His)

SNV
Germline

Chr1:119919409

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_201996575

3 SubmittersRCV001224894 RCV003987800 RCV002484219

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

rs_1553195867

4 SubmittersRCV001246620 RCV002282499 RCV004740631 RCV004960648

NM_024408.4(NOTCH2):c.1668C>A (p.Cys556Ter)

SNV
Germline

Chr1:119965466

Pathogenic

Hajdu-Cheney syndrome

Criteria Provided
Single Submitter

rs_2101139955

1 SubmittersRCV001380501

NM_024408.4(NOTCH2):c.3109G>A (p.Glu1037Lys)

SNV
Germline

Chr1:119940629

Conflicting classifications of pathogenicity

Hajdu-Cheney syndrome
NOTCH2-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_782463588

3 SubmittersRCV001503620 RCV003966034 RCV004037443

NM_024408.4(NOTCH2):c.3508G>T (p.Gly1170Ter)

SNV
Germline

Chr1:119937296

Likely pathogenic

Hajdu-Cheney syndrome

Criteria Provided
Single Submitter

rs_2101098803

1 SubmittersRCV001533199

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

rs_148613210

3 SubmittersRCV001758446 RCV002282575 RCV002540407

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

rs_2101143618

1 SubmittersRCV001799543

NM_024408.4(NOTCH2):c.5276T>C (p.Val1759Ala)

SNV
Germline

Chr1:119921747

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

rs_373166152

2 SubmittersRCV001816060 RCV002541505

NM_024408.4(NOTCH2):c.4228C>T (p.Arg1410Cys)

SNV
Germline

Chr1:119925588

Conflicting classifications of pathogenicity

Hajdu-Cheney syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_145799900

2 SubmittersRCV002118595 RCV004793736

NM_024408.4(NOTCH2):c.4688G>A (p.Arg1563His)

SNV
Germline

Chr1:119923808

Conflicting classifications of pathogenicity

Condition: not provided
Hajdu-Cheney syndrome

Criteria Provided
Conflicting Classifications

rs_767706572

2 SubmittersRCV002226159 RCV003523118

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

rs_782728045

5 SubmittersRCV002261859 RCV002496195 RCV003095903 RCV003395436 RCV004958514

NM_024408.4(NOTCH2):c.6667C>T (p.Gln2223Ter)

SNV
Germline

Chr1:119916055

Pathogenic

Hajdu-Cheney syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002471963

NM_024408.4(NOTCH2):c.7030G>T (p.Glu2344Ter)

SNV
Germline