| - GRCh37:
- Chr1:104868106-120471049
- GRCh38:
- Chr1:104325484-119977655
| LINC01160, LINC01356, LINC01357, LINC01397, LINC01525, LINC01649, LINC01661, LINC01676, LINC01677, LINC01750, LINC01762, LINC01780, LINC02868, LINC02884, LOC101928718, LOC101928977, LOC105378933, LOC107161156, LOC107985184, LOC109029529, LOC109029530, LOC110121098, LOC110121184, LOC110121283, LOC110121285, LOC111365211, LOC111413047, LOC111721703, LOC111776218, LOC112577470, LOC112577471, LOC112577473, LOC112577475, LOC112577476, LOC112577477, LOC112577478, LOC112577479, LOC112577480, LOC112577481, LOC112577483, LOC112577484, LOC112577485, LOC113939977, LOC113939978, LOC115801437, LOC115801438, LOC115801439, LOC115801440, LOC115801441, LOC120893149, LOC120893150, LOC120893151, LOC120893152, LOC120893153, LOC120893154, LOC120893155, LOC120893156, LOC120893157, LOC121725043, LOC121725044, LOC121725045, LOC121725046, LOC121725047, LOC121725048, LOC121725049, LOC121725050, LOC122094891, LOC122094892, LOC122094893, LOC122094894, LOC122094895, LOC122094896, LOC122094897, LOC122094898, LOC122094899, LOC122094900, LOC122094901, LOC122094902, LOC122094903, LOC122094904, LOC122094905, LOC122094906, LOC122094907, LOC122094908, LOC122094909, LOC122094910, LOC122094911, LOC126805815, LOC126805816, LOC126805817, LOC126805818, LOC126805819, LOC126805820, LOC126805821, LOC126805822, LOC126805823, LOC126805824, LOC126805825, LOC126805826, LOC126805827, LOC126805828, LOC126805829, LOC126805830, LOC126805831, LOC126805832, LOC126805833, LOC126805834, LOC126805835, LOC126805836, LOC126805837, LOC126805838, LOC126805839, LOC126805840, LOC126805841, LOC126805842, LOC126805843, LOC126805844, LOC126805845, LOC126805846, LOC126805847, LOC126805848, LOC643441, LRIF1, LRIG2, LRIG2-DT, MAB21L3, MAGI3, MAN1A2, MIR11399, MIR197, MIR320B1, MIR4256, MIR548AC, MIR7852, MIR942, MOV10, MYBPHL, NBPF4, NBPF6, NGF, NGF-AS1, NHLH2, NOTCH2, NRAS, NTNG1, OLFML3, OVGP1, PHGDH, PHTF1, PIFO, PPM1J, PPM1J-DT, PRMT6, PROK1, PRPF38B, PSMA5, PSRC1, PTGFRN, PTPN22, RAP1A, RBM15, RBM15-AS1, REG4, RHOC, RSBN1, SARS1, SCARNA2, SIKE1, SLC16A1, SLC16A1-AS1, SLC16A4, SLC22A15, SLC25A24, SLC6A17, SLC6A17-AS1, SORT1, SPAG17, SPATA42, ST7L, STRIP1, STXBP3, SYCP1, SYPL2, SYT6, TAF13, TAFA3, TBX15, TENT5C, TENT5C-DT, TMEM167B, TMIGD3, TRIM33, TRIM45, TSHB, TSPAN2, TTF2, UBL4B, VANGL1, VAV3, VAV3-AS1, VTCN1, WARS2, WARS2-AS1, WARS2-IT1, WDR3, WDR47, WDR77, WNT2B, ZNF697, ADAM30, ADORA3, AHCYL1, AKNAD1, ALX3, AMIGO1, AMPD1, AMPD2, AP4B1, AP4B1-AS1, ATP1A1, ATP1A1-AS1, ATP5PB, ATXN7L2, BCAS2, BCL2L15, C1orf162, CAPZA1, CASQ2, CD101, CD101-AS1, CD2, CD2-LCR, CD53, CD58, CELSR2, CEPT1, CFAP276, CHI3L2, CHIA, CLCC1, CSDE1, CSF1, CTTNBP2NL, CYB561D1, CYMP-AS1, DCLRE1B, DDX20, DENND2C, DENND2D, DRAM2, EEIG2, ELAPOR1, EPS8L3, FNDC7, GDAP2, GNAI3, GNAT2, GPR61, GPSM2, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, HAO2, HAO2-IT1, HENMT1, HIPK1, HIPK1-AS1, HMGCS2, HSD3B1, HSD3B2, IGSF3, INKA2, INKA2-AS1, KCNA10, KCNA2, KCNA3, KCNC4, KCNC4-DT, KCND3, KCND3-AS1, KCND3-IT1, LAMTOR5, LAMTOR5-AS1, LINC00622 | | See cases | Pathogenic (Aug 13, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr1:116602242-120672637
- GRCh38:
- Chr1:116059621-120130051
| ADAM30, ATP1A1, ATP1A1-AS1, CD101, CD101-AS1, CD2, CD2-LCR, CD58, GDAP2, HAO2, HAO2-IT1, HMGCS2, HSD3B1, HSD3B2, IGSF3, LINC00622, LINC01525, LINC01762, LINC01780, LINC02868, LOC105378933, LOC107161156, LOC109029529, LOC109029530, LOC110121098, LOC111365211, LOC111721703, LOC111776218, LOC112577481, LOC112577483, LOC112577484, LOC112577485, LOC113939978, LOC115801440, LOC115801441, LOC120807608, LOC120893157, LOC121725047, LOC121725048, LOC121725049, LOC121725050, LOC122094907, LOC122094908, LOC122094909, LOC122094910, LOC122094911, LOC126805838, LOC126805839, LOC126805840, LOC126805841, LOC126805842, LOC126805843, LOC126805844, LOC126805845, LOC126805846, LOC126805847, LOC126805848, MAB21L3, MAN1A2, MIR320B1, MIR548AC, MIR942, NOTCH2, PHGDH, PTGFRN, REG4, SLC22A15, SPAG17, TBX15, TENT5C, TENT5C-DT, TRIM45, TTF2, VTCN1, WARS2, WARS2-AS1, WARS2-IT1, WDR3, ZNF697 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr1:119294862-120520219
- GRCh38:
- Chr1:118752239-119977596
| ADAM30, HAO2, HAO2-IT1, HMGCS2, HSD3B1, HSD3B2, LINC00622, LINC01780, LOC105378933, LOC109029529, LOC109029530, LOC111721703, LOC111776218, LOC113939978, LOC121725050, LOC122094909, LOC122094910, LOC122094911, LOC126805846, LOC126805847, LOC126805848, NOTCH2, PHGDH, REG4, TBX15, WARS2, WARS2-AS1, WARS2-IT1, ZNF697 | | See cases | Likely benign (Apr 30, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr1:119476480-120471049
- GRCh38:
- Chr1:118933857-119977655
| ADAM30, HAO2, HAO2-IT1, HMGCS2, HSD3B1, HSD3B2, LINC00622, LINC01780, LOC105378933, LOC109029529, LOC109029530, LOC111776218, LOC121725050, LOC122094909, LOC122094910, LOC122094911, LOC126805847, LOC126805848, NOTCH2, PHGDH, REG4, TBX15, WARS2, WARS2-AS1, WARS2-IT1, ZNF697 | | See cases | Uncertain significance (Jan 28, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr1:120315510-120549585
- GRCh38:
- Chr1:119772887-120006962
| ADAM30, LOC111776218, LOC120807608, LOC122094911, NOTCH2, REG4 | | See cases | Uncertain significance (Jul 18, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr1:120323527-120471049
- GRCh38:
- Chr1:119780904-119977655
| ADAM30, LOC111776218, LOC122094911, NOTCH2, REG4 | | See cases | Uncertain significance (Dec 10, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr1:120359524-120471049
- GRCh38:
- Chr1:119816901-119977655
| ADAM30, LOC111776218, LOC122094911, NOTCH2 | | See cases | Uncertain significance (Dec 22, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr1:120457929
- GRCh38:
- Chr1:119915306
| NOTCH2 | | not provided | Uncertain significance (May 7, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120457932
- GRCh38:
- Chr1:119915309
| NOTCH2 | | Hajdu-Cheney syndrome | Likely benign (Aug 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120457932
- GRCh38:
- Chr1:119915309
| NOTCH2 | | not provided, Hajdu-Cheney syndrome | Conflicting interpretations of pathogenicity (Jul 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:120457940
- GRCh38:
- Chr1:119915317
| NOTCH2 | V2469I | Hajdu-Cheney syndrome | Uncertain significance (May 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120457943
- GRCh38:
- Chr1:119915320
| NOTCH2 | Q2468K | Hajdu-Cheney syndrome | Uncertain significance (Apr 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120457946-120457948
- GRCh38:
- Chr1:119915323-119915325
| NOTCH2 | N2466del | not provided | Uncertain significance (May 5, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120457968
- GRCh38:
- Chr1:119915345
| NOTCH2 | M2459I | Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome
| Uncertain significance (Jul 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:120457977
- GRCh38:
- Chr1:119915354
| NOTCH2 | | Hajdu-Cheney syndrome | Likely benign (Mar 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120457977
- GRCh38:
- Chr1:119915354
| NOTCH2 | | not provided, Hajdu-Cheney syndrome | Conflicting interpretations of pathogenicity (Jul 29, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:120457987
- GRCh38:
- Chr1:119915364
| NOTCH2 | R2453Q | Hajdu-Cheney syndrome | Uncertain significance (Oct 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120457989
- GRCh38:
- Chr1:119915366
| NOTCH2 | Q2452H | Hajdu-Cheney syndrome | Uncertain significance (Aug 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120457989
- GRCh38:
- Chr1:119915366
| NOTCH2 | Q2452H | not provided | Uncertain significance (Apr 6, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120457992
- GRCh38:
- Chr1:119915369
| NOTCH2 | | Hajdu-Cheney syndrome | Likely benign (Jul 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120458003
- GRCh38:
- Chr1:119915380
| NOTCH2 | A2448S | Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome, not provided
| Uncertain significance (Jul 8, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:120458004
- GRCh38:
- Chr1:119915381
| NOTCH2 | | not specified, Hajdu-Cheney syndrome, not provided
| Benign (Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:120458007
- GRCh38:
- Chr1:119915384
| NOTCH2 | | Hajdu-Cheney syndrome | Likely benign (Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120458007
- GRCh38:
- Chr1:119915384
| NOTCH2 | | not provided, Hajdu-Cheney syndrome | Conflicting interpretations of pathogenicity (Jul 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:120458009
- GRCh38:
- Chr1:119915386
| NOTCH2 | G2446R | Hajdu-Cheney syndrome | Uncertain significance (Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120458019
- GRCh38:
- Chr1:119915396
| NOTCH2 | | Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
| Likely benign (Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:120458022
- GRCh38:
- Chr1:119915399
| NOTCH2 | | Hajdu-Cheney syndrome | Likely benign (Jun 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120458028
- GRCh38:
- Chr1:119915405
| NOTCH2 | | Hajdu-Cheney syndrome | Likely benign (May 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120458057
- GRCh38:
- Chr1:119915434
| NOTCH2 | P2430S | not provided | Uncertain significance (Oct 31, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120458065
- GRCh38:
- Chr1:119915442
| NOTCH2 | S2427T | Hajdu-Cheney syndrome | Uncertain significance (Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120458076
- GRCh38:
- Chr1:119915453
| NOTCH2 | D2423E | Hajdu-Cheney syndrome | Uncertain significance (Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120458082
- GRCh38:
- Chr1:119915459
| NOTCH2 | | Hajdu-Cheney syndrome, not provided | Conflicting interpretations of pathogenicity (Mar 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:120458121
- GRCh38:
- Chr1:119915498
| NOTCH2 | | not provided | Uncertain significance (Feb 2, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120458122
- GRCh38:
- Chr1:119915499
| NOTCH2 | L2408H | Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome, not provided, not specified, Hajdu-Cheney syndrome, See cases
| Benign/Likely benign (Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:120458127
- GRCh38:
- Chr1:119915504
| NOTCH2 | | Hajdu-Cheney syndrome | Likely benign (Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120458128
- GRCh38:
- Chr1:119915505
| NOTCH2 | G2406V | Hajdu-Cheney syndrome | Uncertain significance (May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120458136
- GRCh38:
- Chr1:119915513
| NOTCH2 | S2403R | not specified | not provided (Sep 19, 2013) | no assertion provided |
| - GRCh37:
- Chr1:120458146
- GRCh38:
- Chr1:119915523
| NOTCH2 | R2400Q | not provided, Hajdu-Cheney syndrome | Conflicting interpretations of pathogenicity (Sep 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:120458147
- GRCh38:
- Chr1:119915524
| NOTCH2 | R2400* | not provided, Hajdu-Cheney syndrome | Conflicting interpretations of pathogenicity (Dec 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:120458148
- GRCh38:
- Chr1:119915525
| NOTCH2 | | Hajdu-Cheney syndrome | Likely benign (Oct 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120458155
- GRCh38:
- Chr1:119915532
| NOTCH2 | A2397G | Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
| Uncertain significance (Sep 4, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:120458169
- GRCh38:
- Chr1:119915546
| NOTCH2 | | Hajdu-Cheney syndrome | Likely benign (Oct 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120458171
- GRCh38:
- Chr1:119915548
| NOTCH2 | Y2392H | not provided | Uncertain significance (Jun 22, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120458180
- GRCh38:
- Chr1:119915557
| NOTCH2 | Q2389* | Hajdu-Cheney syndrome | Pathogenic (Jan 1, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr1:120458186
- GRCh38:
- Chr1:119915563
| NOTCH2 | P2387T | Hajdu-Cheney syndrome | Uncertain significance (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120458199
- GRCh38:
- Chr1:119915576
| NOTCH2 | | Hajdu-Cheney syndrome | Likely benign (Aug 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120458205
- GRCh38:
- Chr1:119915582
| NOTCH2 | | Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome
| Likely benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:120458209
- GRCh38:
- Chr1:119915586
| NOTCH2 | S2379F | Hajdu-Cheney syndrome | Uncertain significance (Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120458215
- GRCh38:
- Chr1:119915592
| NOTCH2 | P2377L | Hajdu-Cheney syndrome | Uncertain significance (Sep 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120458216
- GRCh38:
- Chr1:119915593
| NOTCH2 | P2377T | Hajdu-Cheney syndrome | Uncertain significance (Dec 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120458219
- GRCh38:
- Chr1:119915596
| NOTCH2 | F2376L | Hajdu-Cheney syndrome | Uncertain significance (May 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120458220
- GRCh38:
- Chr1:119915597
| NOTCH2 | | Hajdu-Cheney syndrome | Likely benign (Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120458220
- GRCh38:
- Chr1:119915597
| NOTCH2 | | Hajdu-Cheney syndrome | Likely benign (Mar 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120458226
- GRCh38:
- Chr1:119915603
| NOTCH2 | Y2373* | Hajdu-Cheney syndrome | Pathogenic (Mar 6, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr1:120458231
- GRCh38:
- Chr1:119915608
| NOTCH2 | A2372T | Hajdu-Cheney syndrome | Uncertain significance (Oct 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120458246
- GRCh38:
- Chr1:119915623
| NOTCH2 | Q2367* | Hajdu-Cheney syndrome | Pathogenic (May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120458248
- GRCh38:
- Chr1:119915625
| NOTCH2 | A2366V | Hajdu-Cheney syndrome | Uncertain significance (May 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120458255
- GRCh38:
- Chr1:119915632
| NOTCH2 | Q2364fs | Hajdu-Cheney syndrome | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr1:120458259
- GRCh38:
- Chr1:119915636
| NOTCH2 | | Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome, not specified | Benign/Likely benign (Oct 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:120458267
- GRCh38:
- Chr1:119915644
| NOTCH2 | Q2360* | Hajdu-Cheney syndrome | Pathogenic (Oct 1, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr1:120458270
- GRCh38:
- Chr1:119915647
| NOTCH2 | P2359A | not specified, not provided, Hajdu-Cheney syndrome
| Benign (Oct 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:120458273
- GRCh38:
- Chr1:119915650
| NOTCH2 | M2358V | Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome, not provided
| Uncertain significance (Feb 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:120458275
- GRCh38:
- Chr1:119915652
| NOTCH2 | M2357T | Hajdu-Cheney syndrome | Uncertain significance (Jul 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120458276
- GRCh38:
- Chr1:119915653
| NOTCH2 | M2357V | Hajdu-Cheney syndrome | Uncertain significance (Aug 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120458290
- GRCh38:
- Chr1:119915667
| NOTCH2 | A2352V | Hajdu-Cheney syndrome | Uncertain significance (Mar 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120458303
- GRCh38:
- Chr1:119915680
| NOTCH2 | | Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome, not specified, not provided | Benign/Likely benign (Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:120458305
- GRCh38:
- Chr1:119915682
| NOTCH2 | R2347H | Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome
| Uncertain significance (Dec 23, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:120458307
- GRCh38:
- Chr1:119915684
| NOTCH2 | | Hajdu-Cheney syndrome | Likely benign (Jul 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120458309
- GRCh38:
- Chr1:119915686
| NOTCH2 | A2346T | Inborn genetic diseases | Uncertain significance (Nov 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120458315
- GRCh38:
- Chr1:119915692
| NOTCH2 | E2344* | Hajdu-Cheney syndrome | Uncertain significance (Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120458329
- GRCh38:
- Chr1:119915706
| NOTCH2 | M2339T | Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome
| Uncertain significance (Oct 8, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:120458343
- GRCh38:
- Chr1:119915720
| NOTCH2 | | Hajdu-Cheney syndrome | Likely benign (May 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120458346
- GRCh38:
- Chr1:119915723
| NOTCH2 | | Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome, not provided | Conflicting interpretations of pathogenicity (Aug 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:120458348
- GRCh38:
- Chr1:119915725
| NOTCH2 | A2333P | Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome, not specified, Hajdu-Cheney syndrome | Likely benign (Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:120458348
- GRCh38:
- Chr1:119915725
| NOTCH2 | A2333T | not provided | Uncertain significance (Oct 20, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120458360
- GRCh38:
- Chr1:119915737
| NOTCH2 | P2329S | not provided, Hajdu-Cheney syndrome | Uncertain significance (Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:120458363
- GRCh38:
- Chr1:119915740
| NOTCH2 | C2328R | Hajdu-Cheney syndrome | Uncertain significance (Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120458366
- GRCh38:
- Chr1:119915743
| NOTCH2 | T2327A | Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome, not provided, Hajdu-Cheney syndrome | Conflicting interpretations of pathogenicity (Oct 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:120458371
- GRCh38:
- Chr1:119915748
| NOTCH2 | Q2325R | not specified | not provided (Sep 19, 2013) | no assertion provided |
| - GRCh37:
- Chr1:120458383
- GRCh38:
- Chr1:119915760
| NOTCH2 | A2321V | not provided | Uncertain significance (Jan 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120458388
- GRCh38:
- Chr1:119915765
| NOTCH2 | | not provided, Hajdu-Cheney syndrome | Conflicting interpretations of pathogenicity (Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:120458389
- GRCh38:
- Chr1:119915766
| NOTCH2 | A2319V | not provided, Hajdu-Cheney syndrome | Uncertain significance (Jul 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:120458396
- GRCh38:
- Chr1:119915773
| NOTCH2 | Q2317* | Hajdu-Cheney syndrome | Pathogenic (Mar 6, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr1:120458400
- GRCh38:
- Chr1:119915777
| NOTCH2 | | Hajdu-Cheney syndrome | Likely benign (Feb 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120458421
- GRCh38:
- Chr1:119915798
| NOTCH2 | Q2308H | Hajdu-Cheney syndrome | Uncertain significance (May 21, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120458421
- GRCh38:
- Chr1:119915798
| NOTCH2 | | Hajdu-Cheney syndrome, not provided, not specified
| Benign (Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:120458424
- GRCh38:
- Chr1:119915801
| NOTCH2 | | not provided | Uncertain significance (Jun 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120458425-120458426
- GRCh38:
- Chr1:119915802-119915803
| NOTCH2 | F2307fs | Hajdu-Cheney syndrome | Likely pathogenic (Jan 21, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr1:120458429
- GRCh38:
- Chr1:119915806
| NOTCH2 | T2306S | Hajdu-Cheney syndrome | Uncertain significance (Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120458432-120458433
- GRCh38:
- Chr1:119915809-119915810
| NOTCH2 | V2305fs | Hajdu-Cheney syndrome | Uncertain significance (Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120458434
- GRCh38:
- Chr1:119915811
| NOTCH2 | I2304T | Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome, Hajdu-Cheney syndrome, Inborn genetic diseases | Uncertain significance (Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:120458435
- GRCh38:
- Chr1:119915812
| NOTCH2 | I2304L | Hajdu-Cheney syndrome | Uncertain significance (Sep 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120458435-120458436
- GRCh38:
- Chr1:119915812-119915813
| NOTCH2 | I2304fs | Hajdu-Cheney syndrome | Pathogenic/Likely pathogenic (May 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:120458436
- GRCh38:
- Chr1:119915813
| NOTCH2 | I2304fs | Hajdu-Cheney syndrome | Pathogenic (Oct 5, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120458437
- GRCh38:
- Chr1:119915814
| NOTCH2 | P2303H | Hajdu-Cheney syndrome | Uncertain significance (Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120458441
- GRCh38:
- Chr1:119915818
| NOTCH2 | P2302A | Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome
| Uncertain significance (May 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:120458447
- GRCh38:
- Chr1:119915824
| NOTCH2 | P2300S | Hajdu-Cheney syndrome, Inborn genetic diseases | Uncertain significance (Aug 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:120458450
- GRCh38:
- Chr1:119915827
| NOTCH2 | E2299* | Hajdu-Cheney syndrome | Pathogenic (Jan 1, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr1:120458452
- GRCh38:
- Chr1:119915829
| NOTCH2 | R2298Q | not provided, Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome, Hajdu-Cheney syndrome | Conflicting interpretations of pathogenicity (Aug 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:120458467
- GRCh38:
- Chr1:119915844
| NOTCH2 | H2293P | Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
| Uncertain significance (Oct 22, 2022) | criteria provided, multiple submitters, no conflicts |