| - GRCh37:
- Chr1:104868106-120471049
- GRCh38:
- Chr1:104325484-119977655
| LOC129931064, LOC129931065, LOC129931066, LOC129931067, LOC129931068, LOC129931069, LOC129931070, LOC129931071, LOC129931072, LOC129931073, LOC129931074, LOC129931075, LOC129931076, LOC129931077, LOC129931078, LOC129931079, LOC129931080, LOC129931081, LOC129931082, LOC129931083, LOC129931084, LOC129931085, LOC129931086, LOC129931087, LOC129931088, LOC129931089, LOC129931090, LOC129931091, LOC129931092, LOC129931093, LOC129931094, LOC129931095, LOC129931096, LOC129931097, LOC129931098, LOC129931099, LOC129931100, LOC129931101, LOC129931102, LOC129931103, LOC129931104, LOC129931105, LOC129931106, LOC129931107, LOC129931108, LOC129931109, LOC129931110, LOC129931111, LOC129931112, LOC129931113, LOC129931114, LOC129931115, LOC129931116, LOC129931117, LOC129931118, LOC129931119, LOC129931120, LOC129931121, LOC129931122, LOC129931123, LOC129931124, LOC129931125, LOC129931126, LOC129931127, LOC129931128, LOC129931129, LOC129931130, LOC129931131, LOC129931132, LOC129931133, LOC129931134, LOC129931135, LOC129931136, LOC129931137, LOC129931138, LOC129931139, LOC129931140, LOC129931141, LOC129931142, LOC129931143, LOC129931144, LOC129931145, LOC129931146, LOC129931147, LOC129931148, LOC129931149, LOC129931150, LOC129931151, LOC129931152, LOC129931153, LOC129931154, LOC129931155, LOC129931156, LOC129931157, LOC129931158, LOC129931159, LOC129931160, LOC129931161, LOC129931162, LOC129931163, LOC129931164, LOC129931165, LOC129931166, LOC129931167, LOC129931168, LOC129931169, LOC129931170, LOC129931171, LOC129931172, LOC129931173, LOC129931174, LOC129931175, LOC129931176, LOC129931177, LOC129931178, LOC129931179, LOC129931180, LOC129931181, LOC129931182, LOC129931183, LOC129931184, LOC129931185, LOC129931186, LOC129931187, LOC129931188, LOC129931189, LOC129931190, LOC129931191, LOC129931192, LOC129931193, LOC129931194, LOC129931195, LOC129931196, LOC129931197, LOC129931198, LOC129931199, LOC129931200, LOC129931201, LOC129931202, LOC129931203, LOC129931204, LOC129931205, LOC129931206, LOC129931207, LOC129931208, LOC129931209, LOC129931210, LOC129931211, LOC129931212, LOC129931213, LOC129931214, LOC129931215, LOC129931216, LOC129931217, LOC129931218, LOC129931219, LOC129931220, LOC129931221, LOC129931222, LOC129931223, LOC129931224, LOC129931225, LOC129931226, LOC129931227, LOC129931228, LOC129931229, LOC129931230, LOC129931231, LOC129931232, LOC129931233, LOC129931234, LOC129931235, LOC129931236, LOC129931237, LOC129931238, LOC129931239, LOC129931240, LOC129931241, LOC129931242, LOC129931243, LOC129931244, LOC129931245, LOC129931246, LOC129931247, LOC129931248, LOC129931249, LOC129931250, LOC129931251, LOC129931252, LOC129931253, LOC129931254, LOC129931255, LOC129931256, LOC129931257, LOC129931258, LOC129931259, LOC129931260, LOC129931261, LOC129931262, LOC129931263, LOC129931264, LOC129931265, LOC129931266, LOC129931267, LOC129931268, LOC129931269, LOC129931270, LOC129931271, LOC129931272, LOC129931273, LOC129931274, LOC129931275, LOC129931276, LOC129931277, LOC129931278, LOC129931279, LOC129931280, LOC129931281, LOC129931282, LOC129931283, LOC129931284, LOC129931285, LOC129931286, LOC129931287, LOC129931288, LOC129931289, LOC129931290, LOC129931291, LOC129931292, LOC129931293, LOC129931294, LOC129931295, LOC129931296, LOC129931297, LOC129931298, LOC129931299, LOC129931300, LOC129931301, LOC129931302, LOC129931303, LOC129931304, LOC129931305, LOC129931306, LOC129931307, LOC129931308, LOC132090666, 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, 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, CIMAP3, 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, 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, LOC129388569, LOC129388570, LOC129388571, LOC129388572, LOC129388573, LOC129388574, LOC129388575, LOC129388576, LOC129388577, LOC129388578, LOC129388579, LOC129388580, LOC129388581, LOC129388582, LOC129388583, LOC129388584, LOC129388585, LOC129388586, LOC129388587, LOC129388588, LOC129388589, LOC129388590, LOC129388591, LOC129388592, LOC129388593, LOC129388594, LOC129388595, LOC129388596, LOC129388597, LOC129388598, LOC129388599, LOC129388600, LOC129931063 | | 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, LOC129388594, LOC129388595, LOC129388596, LOC129388597, LOC129388598, LOC129388599, LOC129388600, LOC129931254, LOC129931255, LOC129931256, LOC129931257, LOC129931258, LOC129931259, LOC129931260, LOC129931261, LOC129931262, LOC129931263, LOC129931264, LOC129931265, LOC129931266, LOC129931267, LOC129931268, LOC129931269, LOC129931270, LOC129931271, LOC129931272, LOC129931273, LOC129931274, LOC129931275, LOC129931276, LOC129931277, LOC129931278, LOC129931279, LOC129931280, LOC129931281, LOC129931282, LOC129931283, LOC129931284, LOC129931285, LOC129931286, LOC129931287, LOC129931288, LOC129931289, LOC129931290, LOC129931291, LOC129931292, LOC129931293, LOC129931294, LOC129931295, LOC129931296, LOC129931297, LOC129931298, LOC129931299, LOC129931300, LOC129931301, LOC129931302, LOC129931303, LOC129931304, LOC129931305, LOC129931306, LOC129931307, LOC129931308, LOC132090666, 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, LOC129388597, LOC129388598, LOC129388599, LOC129388600, LOC129931299, LOC129931300, LOC129931301, LOC129931302, LOC129931303, LOC129931304, LOC129931305, LOC129931306, LOC129931307, LOC129931308, LOC132090666, 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, LOC129388598, LOC129388599, LOC129388600, LOC129931299, LOC129931300, LOC129931301, LOC129931302, LOC129931303, LOC129931304, LOC129931305, LOC129931306, LOC129931307, LOC129931308, LOC132090666, 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, LOC129388600, NOTCH2, REG4 | | See cases | Uncertain significance (Jul 18, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr1:120323527-120471049
- GRCh38:
- Chr1:119780904-119977655
| ADAM30, LOC111776218, LOC122094911, LOC129388600, NOTCH2, REG4 | | See cases | Uncertain significance (Dec 10, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr1:120359524-120471049
- GRCh38:
- Chr1:119816901-119977655
| ADAM30, LOC111776218, LOC122094911, LOC129388600, 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 | Inborn genetic diseases, Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation, not provided | Uncertain significance (Sep 13, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:120458004
- GRCh38:
- Chr1:119915381
| NOTCH2 | | not specified, not provided, Hajdu-Cheney syndrome
| 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 specified, not provided, 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:
- Chr1:120458140
- GRCh38:
- Chr1:119915517
| NOTCH2 | P2402R | not provided | Uncertain significance (Apr 17, 2023) | criteria provided, single submitter |
| - 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 (Feb 10, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:120458148
- GRCh38:
- Chr1:119915525
| NOTCH2 | | Hajdu-Cheney syndrome | Likely benign (Oct 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120458150
- GRCh38:
- Chr1:119915527
| NOTCH2 | E2399K | not provided | Uncertain significance (Mar 1, 2023) | 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 | NOTCH2-related condition, Hajdu-Cheney syndrome | Uncertain significance (Sep 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - 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:
- Chr1:120458225
- GRCh38:
- Chr1:119915602
| NOTCH2 | H2374D | not provided | Uncertain significance (Sep 1, 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 | | Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome, not specified, Hajdu-Cheney syndrome | 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 (Dec 1, 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:
- Chr1:120458299
- GRCh38:
- Chr1:119915676
| NOTCH2 | P2349L | not specified | Uncertain significance (Aug 30, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:120458303
- GRCh38:
- Chr1:119915680
| NOTCH2 | | not provided, Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome, not specified | 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:
- Chr1:120458324
- GRCh38:
- Chr1:119915701
| NOTCH2 | Q2341* | not provided | Pathogenic (Mar 3, 2023) | 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 | | not provided, Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome | Conflicting interpretations of pathogenicity (Aug 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:120458348
- GRCh38:
- Chr1:119915725
| NOTCH2 | A2333P | not specified, Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome, 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, NOTCH2-related condition, Hajdu-Cheney syndrome
| Uncertain significance (Apr 7, 2023) | 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 (Jun 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:120458389
- GRCh38:
- Chr1:119915766
| NOTCH2 | A2319V | NOTCH2-related condition, not provided, Hajdu-Cheney syndrome
| Uncertain significance (Sep 15, 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:
- Chr1:120458398
- GRCh38:
- Chr1:119915775
| NOTCH2 | A2316V | NOTCH2-related condition | Uncertain significance (Feb 1, 2023) | criteria provided, single submitter |
| - 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 | | not provided, Hajdu-Cheney syndrome, 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 |