Total 183 pathogenic variants reported for Hajdu-Cheney syndrome 
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
CA341873309 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.6007C>T (p.Arg2003Ter) SNV
Germline
Chr1:119917685 Pathogenic/Likely pathogenic Condition: not provided
Inborn genetic diseases
Hajdu-Cheney syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA344289 rs_312262801

3 SubmittersRCV000364519RCV004955263RCV005089336

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 SubmittersRCV000121715RCV000725834RCV000764962RCV005372235RCV003892113RCV002515888

NM_024408.4(NOTCH2):c.5161G>A (p.Ala1721Thr) SNV
Germline
Chr1:119922288 Conflicting classifications of pathogenicity not specified
Hajdu-Cheney syndrome
Condition: not provided
NOTCH2-related disorder
Criteria Provided
Conflicting Classifications
CA161285 rs_115013051

4 SubmittersRCV000121729RCV001497958RCV000728639RCV003905162

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 SubmittersRCV000121732RCV002517602RCV000729463RCV004739418RCV002483225

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 SubmittersRCV000176589RCV002054080

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 SubmittersRCV000176689RCV000638610RCV003955050

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 SubmittersRCV000177659RCV001236924

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 SubmittersRCV000177811RCV002516755RCV003947508

NM_024408.4(NOTCH2):c.6766C>T (p.Arg2256Cys) SNV
Germline
Chr1:119915956 Conflicting classifications of pathogenicity Condition: not provided
NOTCH2-related disorder
Hajdu-Cheney syndrome
Criteria Provided
Conflicting Classifications
CA244745 rs_147522485

4 SubmittersRCV000177813RCV003947509RCV002054103

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 SubmittersRCV000244994RCV000726704RCV002058328

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 SubmittersRCV000396824RCV003633494

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 SubmittersRCV000384147RCV002059099

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 SubmittersRCV000276229RCV002059111RCV002519113RCV005025419

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 SubmittersRCV000305517RCV002519136

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 SubmittersRCV000289223RCV002519137

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 SubmittersRCV000285960RCV002059131

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

6 SubmittersRCV000268720RCV000556572RCV001753744RCV003897609

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 SubmittersRCV000357190RCV004725140

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 SubmittersRCV000328151RCV000529648

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 SubmittersRCV000388266RCV002487236RCV005452970RCV005090367

NM_024408.4(NOTCH2):c.975A>G (p.Val325=) SNV
Germline
Chr1:119969644 Conflicting classifications of pathogenicity Condition: not provided
Hajdu-Cheney syndrome
Criteria Provided
Conflicting Classifications
CA10605502 rs_886044854

2 SubmittersRCV000298162RCV005090368

NM_024408.4(NOTCH2):c.6028-4G>A SNV
Germline
Chr1:119916698 Conflicting classifications of pathogenicity Condition: not provided
NOTCH2-related disorder
Hajdu-Cheney syndrome
Criteria Provided
Conflicting Classifications
CA1039502 rs_372465730

3 SubmittersRCV000318641RCV003977798RCV003633495

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 SubmittersRCV000359132RCV001514294RCV003897634

NM_024408.4(NOTCH2):c.6477G>A (p.Thr2159=) SNV
Germline
Chr1:119916245 Conflicting classifications of pathogenicity Condition: not provided
NOTCH2-related disorder
Hajdu-Cheney syndrome
Criteria Provided
Conflicting Classifications
CA1039422 rs_145566650

4 SubmittersRCV000374286RCV003940057RCV002059244

NM_024408.4(NOTCH2):c.5781+10A>C SNV
Germline
Chr1:119919302 Conflicting classifications of pathogenicity Condition: not provided
NOTCH2-related disorder
Hajdu-Cheney syndrome
Criteria Provided
Conflicting Classifications
CA1039574 rs_369586235

3 SubmittersRCV000259633RCV003967785RCV003522955

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 SubmittersRCV000350930RCV002059260

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 SubmittersRCV000368673RCV000552666RCV003949938

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 SubmittersRCV000342906RCV003105853RCV003957512

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 SubmittersRCV000404846RCV000691348

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 SubmittersRCV000353065RCV002502157RCV002518153

NM_024408.4(NOTCH2):c.6363G>C (p.Lys2121Asn) SNV
Germline
Chr1:119916359 Conflicting classifications of pathogenicity Condition: not provided
not specified
NOTCH2-related disorder
Hajdu-Cheney syndrome
Criteria Provided
Conflicting Classifications
CA1039439 rs_144047610

6 SubmittersRCV000301106RCV001820842RCV003957526RCV001859732

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 SubmittersRCV000764961RCV002061146RCV000405161RCV003422203

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 SubmittersRCV003409725RCV005027594RCV000513966RCV004955568RCV005091172

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 SubmittersRCV000593705RCV001082679RCV003935591

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 SubmittersRCV000594137RCV002062009

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 SubmittersRCV000591336RCV002532381RCV003905515RCV005019015

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 SubmittersRCV000597244RCV002065146

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 SubmittersRCV000593446RCV002532406RCV004740350

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 SubmittersRCV000593591RCV002065157RCV003927911

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 SubmittersRCV000597289RCV002062034

NM_024408.4(NOTCH2):c.5815G>T (p.Ala1939Ser) SNV
Germline
Chr1:119918520 Conflicting classifications of pathogenicity Condition: not provided
Hajdu-Cheney syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA1039556 rs_373667418

3 SubmittersRCV000594828RCV001867946RCV005372360

NM_024408.4(NOTCH2):c.1228G>T (p.Ala410Ser) SNV
Germline
Chr1:119968113 Conflicting classifications of pathogenicity Condition: not provided
Hajdu-Cheney syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA1040595 rs_370349228

3 SubmittersRCV000597924RCV001867947RCV005384778

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 SubmittersRCV000596545RCV002532443

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 SubmittersRCV000594782RCV002532453RCV003900321

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 SubmittersRCV000591481RCV002532465RCV003980086

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 SubmittersRCV000596158RCV003117364RCV004740353

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 SubmittersRCV000595171RCV000693115RCV003952977

NM_024408.4(NOTCH2):c.7224C>G (p.Leu2408=) SNV
Germline
Chr1:119915498 Conflicting classifications of pathogenicity Condition: not provided
Hajdu-Cheney syndrome
Criteria Provided
Conflicting Classifications
CA420033959 rs_147795348

2 SubmittersRCV000591233RCV005091569

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 SubmittersRCV000595469RCV002531066RCV003952981

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 SubmittersRCV000594946RCV002062071

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 SubmittersRCV000594207RCV002062075RCV003952982

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 SubmittersRCV000593612RCV002532549

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 SubmittersRCV000593654RCV002065169

NM_024408.4(NOTCH2):c.6808A>G (p.Met2270Val) SNV
Germline
Chr1:119915914 Conflicting classifications of pathogenicity Condition: not provided
Hajdu-Cheney syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA1039375 rs_145628676

3 SubmittersRCV000594050RCV001867974RCV005372363

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 SubmittersRCV000591123RCV003633518

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 SubmittersRCV000597523RCV002476332RCV003633519

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 SubmittersRCV000593702RCV001510722

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

7 SubmittersRCV000617014RCV002508237RCV004760646

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
CA341875301 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
CA1039761 rs_142462128

4 SubmittersRCV000728271RCV001234445RCV003980361RCV004639340

NM_024408.4(NOTCH2):c.3014G>A (p.Gly1005Glu) SNV
Germline
Chr1:119940724 Conflicting classifications of pathogenicity Condition: not provided
Hajdu-Cheney syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA1040155 rs_782036233

4 SubmittersRCV000728449RCV001862148RCV005372422

NM_024408.4(NOTCH2):c.4860-3C>T SNV
Germline
Chr1:119922781 Conflicting classifications of pathogenicity Condition: not provided
Hajdu-Cheney syndrome
not specified
Criteria Provided
Conflicting Classifications
CA1039774 rs_752354633

3 SubmittersRCV000728547RCV002535078RCV005436040

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
CA1039978 rs_376503331

3 SubmittersRCV000728693RCV002535084RCV003892607

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 SubmittersRCV000729258RCV002477692RCV003633537RCV003947920

NM_024408.4(NOTCH2):c.3198C>G (p.Leu1066=) SNV
Germline
Chr1:119937996 Conflicting classifications of pathogenicity Condition: not provided
Hajdu-Cheney syndrome
Criteria Provided
Conflicting Classifications
CA1040123 rs_782491901

2 SubmittersRCV000729397RCV005092135

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
CA525742379 rs_1220746088

2 SubmittersRCV000729466RCV003633538

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
CA1039723 rs_143134864

3 SubmittersRCV000729663RCV002067097RCV003953304

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
CA1040192 rs_151130105

6 SubmittersRCV000729664RCV002060979RCV003953305RCV004026976

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
CA1040252 rs_200524116

2 SubmittersRCV000729756RCV002060980

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
CA30313971 rs_1000209105

2 SubmittersRCV000729791RCV002067099

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
CA420033256 rs_372087953

2 SubmittersRCV000729930RCV002060985

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
CA1040315 rs_368664174

2 SubmittersRCV000730120RCV002536439

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 SubmittersRCV000730285RCV001855748RCV002485874RCV003420300RCV005384838

NM_024408.4(NOTCH2):c.5862G>A (p.Leu1954=) SNV
Germline
Chr1:119918473 Conflicting classifications of pathogenicity Condition: not provided
Hajdu-Cheney syndrome
Criteria Provided
Conflicting Classifications
CA1039554 rs_746117178

2 SubmittersRCV000730892RCV001855752

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 SubmittersRCV000731226RCV002507295RCV003353010RCV003633539

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
CA1039448 rs_779311707

4 SubmittersRCV000731300RCV002067116RCV003892634RCV004027004

NM_024408.4(NOTCH2):c.6345C>T (p.Ser2115=) SNV
Germline
Chr1:119916377 Conflicting classifications of pathogenicity Condition: not provided
Hajdu-Cheney syndrome
Criteria Provided
Conflicting Classifications
CA30313774 rs_369254585

2 SubmittersRCV000731313RCV005092145

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
CA420189332 rs_1314464356

2 SubmittersRCV000731441RCV003117531

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
CA420038827 rs_1390174762

3 SubmittersRCV000731572RCV002067122RCV003947933

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
CA1040668 rs_374224226

3 SubmittersRCV000731775RCV002067125

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
CA1040217 rs_587621243

2 SubmittersRCV000731930RCV002535245

NM_024408.4(NOTCH2):c.3984T>C (p.Gly1328=) SNV
Germline
Chr1:119926520 Conflicting classifications of pathogenicity Condition: not provided
Hajdu-Cheney syndrome
Criteria Provided
Conflicting Classifications
CA30319579 rs_375142978

2 SubmittersRCV000732616RCV005092149

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
CA1040195 rs_201100122

4 SubmittersRCV000732627RCV002067136RCV003411679

NM_024408.4(NOTCH2):c.6140G>A (p.Arg2047Gln) SNV
Germline
Chr1:119916582 Conflicting classifications of pathogenicity Condition: not provided
Hajdu-Cheney syndrome
Inborn genetic diseases
NOTCH2-related disorder
Criteria Provided
Conflicting Classifications
CA1039482 rs_371060516

4 SubmittersRCV000733080RCV002067141RCV004027050RCV004723146

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
CA420018985 rs_1557814141

2 SubmittersRCV000733109RCV002067143

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 SubmittersRCV000733343RCV003396310RCV001868985RCV004564463

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
CA1040112 rs_372751663

3 SubmittersRCV000733523RCV002535336RCV003975288

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
CA1039756 rs_587748556

3 SubmittersRCV000733754RCV002067156RCV003892664

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
CA1039452 rs_747743815

2 SubmittersRCV000733980RCV002061017

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
CA1040491 rs_193116983

2 SubmittersRCV000734157RCV003523021

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
CA1039461 rs_764335447

3 SubmittersRCV000734851RCV002536528

NM_024408.4(NOTCH2):c.4005G>A (p.Pro1335=) SNV
Germline
Chr1:119926499 Conflicting classifications of pathogenicity Condition: not provided
Hajdu-Cheney syndrome
NOTCH2-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA1039931 rs_118188023

5 SubmittersRCV000734920RCV001868999RCV003908058RCV004027096

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 SubmittersRCV000823875RCV005021258RCV005251231

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 SubmittersRCV000986404RCV001312091RCV003313982

NM_024408.4(NOTCH2):c.4174C>T (p.Gln1392Ter) SNV
Germline
Chr1:119925642 Pathogenic Hajdu-Cheney syndrome Criteria Provided
Single Submitter
CA341890552 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
CA341886958 rs_999822357

2 SubmittersRCV001270188RCV001863079

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 SubmittersRCV001224894RCV002484219RCV003987800

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 SubmittersRCV001246620RCV002282499RCV004740631RCV004960648

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 SubmittersRCV001316334RCV003399093RCV004034391RCV002476472

NM_024408.4(NOTCH2):c.1668C>A (p.Cys556Ter) SNV
Germline
Chr1:119965466 Pathogenic Hajdu-Cheney syndrome Criteria Provided
Single Submitter
CA341874938 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
CA1040143 rs_782463588

3 SubmittersRCV001503620RCV003966034RCV004037443

NM_024408.4(NOTCH2):c.3508G>T (p.Gly1170Ter) SNV
Germline
Chr1:119937296 Likely pathogenic Hajdu-Cheney syndrome Criteria Provided
Single Submitter
CA341851761 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
CA1039591 rs_148613210

3 SubmittersRCV001758446RCV002282575RCV002540407

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_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
CA1039680 rs_373166152

2 SubmittersRCV001816060RCV002541505

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 SubmittersRCV001894410RCV002506898RCV004741101RCV004526870

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 SubmittersRCV002008615RCV002492249RCV005445543RCV004741179

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 SubmittersRCV001916783RCV005031898RCV003978420

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 SubmittersRCV001989871RCV002484783RCV005374947

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 SubmittersRCV001941515RCV005031957

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 SubmittersRCV002154204RCV005025715

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
CA1039893 rs_145799900

2 SubmittersRCV002118595RCV004793736

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
CA1039819 rs_767706572

2 SubmittersRCV002226159RCV003523118

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 SubmittersRCV002261859RCV002496195RCV003095903RCV003395436RCV004958514

NM_024408.4(NOTCH2):c.6667C>T (p.Gln2223Ter) SNV
Germline
Chr1:119916055 Pathogenic Hajdu-Cheney syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA341876796 rs_2526105966

2 SubmittersRCV002471963

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 SubmittersRCV005019616RCV003063019RCV003892210

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 SubmittersRCV002671175RCV005025936

NM_024408.4(NOTCH2):c.7030G>T (p.Glu2344Ter) SNV
Germline
Chr1:119915692 Pathogenic Hajdu-Cheney syndrome Criteria Provided
Single Submitter
CA341874057 rs_2101142159

1 SubmittersRCV002814380

NM_024408.4(NOTCH2):c.901G>T (p.Glu301Ter) SNV
Germline
Chr1:119969718 Pathogenic Hajdu-Cheney syndrome Criteria Provided
Single Submitter
CA341883368 rs_2526313922

1 SubmittersRCV002863686

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 SubmittersRCV002908111RCV005019434

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 SubmittersRCV002957559RCV003409972RCV005019486

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 SubmittersRCV002966084RCV005034515

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 SubmittersRCV005028110RCV002996300RCV005412463

NM_024408.4(NOTCH2):c.7099C>T (p.Gln2367Ter) SNV
Germline
Chr1:119915623 Pathogenic Hajdu-Cheney syndrome Criteria Provided
Single Submitter
CA341873521 rs_2101141863

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
CA341880920 rs_2101145073

2 SubmittersRCV003406719RCV003633717

NM_024408.4(NOTCH2):c.4512-3T>G SNV
Germline
Chr1:119923987 Conflicting classifications of pathogenicity Hajdu-Cheney syndrome
NOTCH2-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA1039840 rs_754385929

3 SubmittersRCV003522248RCV003954255RCV005435210

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 SubmittersRCV003525056RCV004738802RCV005036875

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 SubmittersRCV003524877RCV005014753

NM_024408.4(NOTCH2):c.4424A>T (p.Tyr1475Phe) SNV
Germline
Chr1:119925392 Conflicting classifications of pathogenicity Hajdu-Cheney syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA1039863 rs_751003534

2 SubmittersRCV003523673RCV005377421

NM_024408.4(NOTCH2):c.5356C>T (p.Arg1786Ter) SNV
Germline
Chr1:119920352 Pathogenic Hajdu-Cheney syndrome Criteria Provided
Single Submitter
CA341885696 rs_1435723160

1 SubmittersRCV003633895

NM_024408.4(NOTCH2):c.6317C>T (p.Pro2106Leu) SNV
Germline
Chr1:119916405 Conflicting classifications of pathogenicity Hajdu-Cheney syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA30313791 rs_756388778

2 SubmittersRCV003634458RCV005445902

NM_024408.4(NOTCH2):c.5781+1G>T SNV
Germline
Chr1:119919311 Likely pathogenic Hajdu-Cheney syndrome Criteria Provided
Single Submitter
CA341883728 rs_1382733866

1 SubmittersRCV003634596

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 SubmittersRCV003634995RCV005014850

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 SubmittersRCV003822320RCV005030281

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 SubmittersRCV003813784RCV005038527

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 SubmittersRCV003851313RCV005015047

NM_024408.4(NOTCH2):c.5987T>A (p.Leu1996Ter) SNV
Germline
Chr1:119917705 Pathogenic Hajdu-Cheney syndrome Criteria Provided
Single Submitter
CA341881880 rs_2526112692

1 SubmittersRCV003862348

NM_024408.4(NOTCH2):c.337C>T (p.Arg113Ter) SNV
Germline
Chr1:120005407 Likely pathogenic Hajdu-Cheney syndrome Criteria Provided
Single Submitter
CA1040885 rs_782059779

1 SubmittersRCV003984997

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 SubmittersRCV004545996RCV005023568

NM_024408.4(NOTCH2):c.2092A>G (p.Ile698Val) SNV
Germline
Chr1:119955167 Conflicting classifications of pathogenicity Inborn genetic diseases
Hajdu-Cheney syndrome
Criteria Provided
Conflicting Classifications

2 SubmittersRCV004953844RCV005061501

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 SubmittersRCV005021002RCV005112781

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 SubmittersRCV005037261RCV005063277

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