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Items: 1 to 100 of 1122

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(Aug 13, 2012)
no assertion criteria provided
2.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
GRCh37:
Chr1:119294862-120520219
GRCh38:
Chr1:118752239-119977596
See casesLikely benign
(Apr 30, 2011)
no assertion criteria provided
4.
GRCh37:
Chr1:119476480-120471049
GRCh38:
Chr1:118933857-119977655
See casesUncertain significance
(Jan 28, 2013)
no assertion criteria provided
5.
GRCh37:
Chr1:120315510-120549585
GRCh38:
Chr1:119772887-120006962
ADAM30, LOC111776218, LOC120807608, LOC122094911, LOC129388600, NOTCH2, REG4See casesUncertain significance
(Jul 18, 2014)
no assertion criteria provided
6.
GRCh37:
Chr1:120323527-120471049
GRCh38:
Chr1:119780904-119977655
ADAM30, LOC111776218, LOC122094911, LOC129388600, NOTCH2, REG4See casesUncertain significance
(Dec 10, 2012)
no assertion criteria provided
7.
GRCh37:
Chr1:120359524-120471049
GRCh38:
Chr1:119816901-119977655
ADAM30, LOC111776218, LOC122094911, LOC129388600, NOTCH2See casesUncertain significance
(Dec 22, 2010)
no assertion criteria provided
8.
GRCh37:
Chr1:120457929
GRCh38:
Chr1:119915306
NOTCH2not providedUncertain significance
(May 7, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr1:120457932
GRCh38:
Chr1:119915309
NOTCH2Hajdu-Cheney syndromeLikely benign
(Aug 20, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr1:120457932
GRCh38:
Chr1:119915309
NOTCH2not provided, Hajdu-Cheney syndromeConflicting interpretations of pathogenicity
(Jul 25, 2022)
criteria provided, conflicting interpretations
11.
GRCh37:
Chr1:120457940
GRCh38:
Chr1:119915317
NOTCH2V2469IHajdu-Cheney syndromeUncertain significance
(May 19, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr1:120457943
GRCh38:
Chr1:119915320
NOTCH2Q2468KHajdu-Cheney syndromeUncertain significance
(Apr 28, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr1:120457946-120457948
GRCh38:
Chr1:119915323-119915325
NOTCH2N2466delnot providedUncertain significance
(May 5, 2020)
criteria provided, single submitter
14.
GRCh37:
Chr1:120457968
GRCh38:
Chr1:119915345
NOTCH2M2459IHajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome
Uncertain significance
(Jul 30, 2022)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr1:120457977
GRCh38:
Chr1:119915354
NOTCH2Hajdu-Cheney syndromeLikely benign
(Mar 4, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr1:120457977
GRCh38:
Chr1:119915354
NOTCH2not provided, Hajdu-Cheney syndromeConflicting interpretations of pathogenicity
(Jul 29, 2022)
criteria provided, conflicting interpretations
17.
GRCh37:
Chr1:120457987
GRCh38:
Chr1:119915364
NOTCH2R2453QHajdu-Cheney syndromeUncertain significance
(Oct 18, 2021)
criteria provided, single submitter
18.
GRCh37:
Chr1:120457989
GRCh38:
Chr1:119915366
NOTCH2Q2452HHajdu-Cheney syndromeUncertain significance
(Aug 20, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr1:120457989
GRCh38:
Chr1:119915366
NOTCH2Q2452Hnot providedUncertain significance
(Apr 6, 2017)
criteria provided, single submitter
20.
GRCh37:
Chr1:120457992
GRCh38:
Chr1:119915369
NOTCH2Hajdu-Cheney syndromeLikely benign
(Jul 29, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr1:120458003
GRCh38:
Chr1:119915380
NOTCH2A2448SInborn 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
22.
GRCh37:
Chr1:120458004
GRCh38:
Chr1:119915381
NOTCH2not specified, not provided, Hajdu-Cheney syndrome
Benign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr1:120458007
GRCh38:
Chr1:119915384
NOTCH2Hajdu-Cheney syndromeLikely benign
(Jul 6, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr1:120458007
GRCh38:
Chr1:119915384
NOTCH2not provided, Hajdu-Cheney syndromeConflicting interpretations of pathogenicity
(Jul 30, 2022)
criteria provided, conflicting interpretations
25.
GRCh37:
Chr1:120458009
GRCh38:
Chr1:119915386
NOTCH2G2446RHajdu-Cheney syndromeUncertain significance
(Aug 31, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr1:120458019
GRCh38:
Chr1:119915396
NOTCH2Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
Likely benign
(Jul 19, 2022)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr1:120458022
GRCh38:
Chr1:119915399
NOTCH2Hajdu-Cheney syndromeLikely benign
(Jun 4, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr1:120458028
GRCh38:
Chr1:119915405
NOTCH2Hajdu-Cheney syndromeLikely benign
(May 30, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr1:120458057
GRCh38:
Chr1:119915434
NOTCH2P2430Snot providedUncertain significance
(Oct 31, 2017)
criteria provided, single submitter
30.
GRCh37:
Chr1:120458065
GRCh38:
Chr1:119915442
NOTCH2S2427THajdu-Cheney syndromeUncertain significance
(Aug 26, 2021)
criteria provided, single submitter
31.
GRCh37:
Chr1:120458076
GRCh38:
Chr1:119915453
NOTCH2D2423EHajdu-Cheney syndromeUncertain significance
(Sep 1, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr1:120458082
GRCh38:
Chr1:119915459
NOTCH2Hajdu-Cheney syndrome, not providedConflicting interpretations of pathogenicity
(Mar 19, 2022)
criteria provided, conflicting interpretations
33.
GRCh37:
Chr1:120458121
GRCh38:
Chr1:119915498
NOTCH2not providedUncertain significance
(Feb 2, 2017)
criteria provided, single submitter
34.
GRCh37:
Chr1:120458122
GRCh38:
Chr1:119915499
NOTCH2L2408HAlagille 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
35.
GRCh37:
Chr1:120458127
GRCh38:
Chr1:119915504
NOTCH2Hajdu-Cheney syndromeLikely benign
(Sep 23, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr1:120458128
GRCh38:
Chr1:119915505
NOTCH2G2406VHajdu-Cheney syndromeUncertain significance
(May 22, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr1:120458136
GRCh38:
Chr1:119915513
NOTCH2S2403Rnot specifiednot provided
(Sep 19, 2013)
no assertion provided
38.
GRCh37:
Chr1:120458140
GRCh38:
Chr1:119915517
NOTCH2P2402Rnot providedUncertain significance
(Apr 17, 2023)
criteria provided, single submitter
39.
GRCh37:
Chr1:120458146
GRCh38:
Chr1:119915523
NOTCH2R2400Qnot provided, Hajdu-Cheney syndromeConflicting interpretations of pathogenicity
(Sep 20, 2022)
criteria provided, conflicting interpretations
40.
GRCh37:
Chr1:120458147
GRCh38:
Chr1:119915524
NOTCH2R2400*not provided, Hajdu-Cheney syndromeConflicting interpretations of pathogenicity
(Feb 10, 2023)
criteria provided, conflicting interpretations
41.
GRCh37:
Chr1:120458148
GRCh38:
Chr1:119915525
NOTCH2Hajdu-Cheney syndromeLikely benign
(Oct 21, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr1:120458150
GRCh38:
Chr1:119915527
NOTCH2E2399Knot providedUncertain significance
(Mar 1, 2023)
criteria provided, single submitter
43.
GRCh37:
Chr1:120458155
GRCh38:
Chr1:119915532
NOTCH2A2397GAlagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
Uncertain significance
(Sep 4, 2021)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr1:120458169
GRCh38:
Chr1:119915546
NOTCH2Hajdu-Cheney syndromeLikely benign
(Oct 7, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr1:120458171
GRCh38:
Chr1:119915548
NOTCH2Y2392Hnot providedUncertain significance
(Jun 22, 2017)
criteria provided, single submitter
46.
GRCh37:
Chr1:120458180
GRCh38:
Chr1:119915557
NOTCH2Q2389*Hajdu-Cheney syndromePathogenic
(Jan 1, 2012)
no assertion criteria provided
47.
GRCh37:
Chr1:120458186
GRCh38:
Chr1:119915563
NOTCH2P2387TNOTCH2-related condition, Hajdu-Cheney syndromeUncertain significance
(Sep 6, 2023)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr1:120458199
GRCh38:
Chr1:119915576
NOTCH2Hajdu-Cheney syndromeLikely benign
(Aug 8, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr1:120458205
GRCh38:
Chr1:119915582
NOTCH2Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome
Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr1:120458209
GRCh38:
Chr1:119915586
NOTCH2S2379FHajdu-Cheney syndromeUncertain significance
(Aug 9, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr1:120458215
GRCh38:
Chr1:119915592
NOTCH2P2377LHajdu-Cheney syndromeUncertain significance
(Sep 19, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr1:120458216
GRCh38:
Chr1:119915593
NOTCH2P2377THajdu-Cheney syndromeUncertain significance
(Dec 20, 2021)
criteria provided, single submitter
53.
GRCh37:
Chr1:120458219
GRCh38:
Chr1:119915596
NOTCH2F2376LHajdu-Cheney syndromeUncertain significance
(May 19, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr1:120458220
GRCh38:
Chr1:119915597
NOTCH2Hajdu-Cheney syndromeLikely benign
(Oct 25, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr1:120458220
GRCh38:
Chr1:119915597
NOTCH2Hajdu-Cheney syndromeLikely benign
(Mar 13, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr1:120458225
GRCh38:
Chr1:119915602
NOTCH2H2374Dnot providedUncertain significance
(Sep 1, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr1:120458226
GRCh38:
Chr1:119915603
NOTCH2Y2373*Hajdu-Cheney syndromePathogenic
(Mar 6, 2011)
no assertion criteria provided
58.
GRCh37:
Chr1:120458231
GRCh38:
Chr1:119915608
NOTCH2A2372THajdu-Cheney syndromeUncertain significance
(Oct 23, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr1:120458246
GRCh38:
Chr1:119915623
NOTCH2Q2367*Hajdu-Cheney syndromePathogenic
(May 22, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr1:120458248
GRCh38:
Chr1:119915625
NOTCH2A2366VHajdu-Cheney syndromeUncertain significance
(May 16, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr1:120458255
GRCh38:
Chr1:119915632
NOTCH2Q2364fsHajdu-Cheney syndromePathogeniccriteria provided, single submitter
62.
GRCh37:
Chr1:120458259
GRCh38:
Chr1:119915636
NOTCH2Alagille 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
63.
GRCh37:
Chr1:120458267
GRCh38:
Chr1:119915644
NOTCH2Q2360*Hajdu-Cheney syndromePathogenic
(Oct 1, 2017)
no assertion criteria provided
64.
GRCh37:
Chr1:120458270
GRCh38:
Chr1:119915647
NOTCH2P2359Anot specified, not provided, Hajdu-Cheney syndrome
Benign
(Dec 1, 2022)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr1:120458273
GRCh38:
Chr1:119915650
NOTCH2M2358VAlagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome, not provided
Uncertain significance
(Feb 7, 2022)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr1:120458275
GRCh38:
Chr1:119915652
NOTCH2M2357THajdu-Cheney syndromeUncertain significance
(Jul 14, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr1:120458276
GRCh38:
Chr1:119915653
NOTCH2M2357VHajdu-Cheney syndromeUncertain significance
(Aug 3, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr1:120458290
GRCh38:
Chr1:119915667
NOTCH2A2352VHajdu-Cheney syndromeUncertain significance
(Mar 23, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr1:120458299
GRCh38:
Chr1:119915676
NOTCH2P2349Lnot specifiedUncertain significance
(Aug 30, 2023)
criteria provided, single submitter
70.
GRCh37:
Chr1:120458303
GRCh38:
Chr1:119915680
NOTCH2not 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
71.
GRCh37:
Chr1:120458305
GRCh38:
Chr1:119915682
NOTCH2R2347HHajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome
Uncertain significance
(Dec 23, 2021)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr1:120458307
GRCh38:
Chr1:119915684
NOTCH2Hajdu-Cheney syndromeLikely benign
(Jul 25, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr1:120458309
GRCh38:
Chr1:119915686
NOTCH2A2346TInborn genetic diseasesUncertain significance
(Nov 7, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr1:120458315
GRCh38:
Chr1:119915692
NOTCH2E2344*Hajdu-Cheney syndromeUncertain significance
(Sep 13, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr1:120458324
GRCh38:
Chr1:119915701
NOTCH2Q2341*not providedPathogenic
(Mar 3, 2023)
criteria provided, single submitter
76.
GRCh37:
Chr1:120458329
GRCh38:
Chr1:119915706
NOTCH2M2339THajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome
Uncertain significance
(Oct 8, 2021)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr1:120458343
GRCh38:
Chr1:119915720
NOTCH2Hajdu-Cheney syndromeLikely benign
(May 27, 2021)
criteria provided, single submitter
78.
GRCh37:
Chr1:120458346
GRCh38:
Chr1:119915723
NOTCH2not 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
79.
GRCh37:
Chr1:120458348
GRCh38:
Chr1:119915725
NOTCH2A2333Pnot 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
80.
GRCh37:
Chr1:120458348
GRCh38:
Chr1:119915725
NOTCH2A2333Tnot providedUncertain significance
(Oct 20, 2014)
criteria provided, single submitter
81.
GRCh37:
Chr1:120458360
GRCh38:
Chr1:119915737
NOTCH2P2329Snot provided, NOTCH2-related condition, Hajdu-Cheney syndrome
Uncertain significance
(Apr 7, 2023)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr1:120458363
GRCh38:
Chr1:119915740
NOTCH2C2328RHajdu-Cheney syndromeUncertain significance
(Aug 26, 2021)
criteria provided, single submitter
83.
GRCh37:
Chr1:120458366
GRCh38:
Chr1:119915743
NOTCH2T2327AAlagille 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
84.
GRCh37:
Chr1:120458371
GRCh38:
Chr1:119915748
NOTCH2Q2325Rnot specifiednot provided
(Sep 19, 2013)
no assertion provided
85.
GRCh37:
Chr1:120458383
GRCh38:
Chr1:119915760
NOTCH2A2321Vnot providedUncertain significance
(Jan 30, 2018)
criteria provided, single submitter
86.
GRCh37:
Chr1:120458388
GRCh38:
Chr1:119915765
NOTCH2not provided, Hajdu-Cheney syndromeConflicting interpretations of pathogenicity
(Jun 1, 2023)
criteria provided, conflicting interpretations
87.
GRCh37:
Chr1:120458389
GRCh38:
Chr1:119915766
NOTCH2A2319VNOTCH2-related condition, not provided, Hajdu-Cheney syndrome
Uncertain significance
(Sep 15, 2022)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr1:120458396
GRCh38:
Chr1:119915773
NOTCH2Q2317*Hajdu-Cheney syndromePathogenic
(Mar 6, 2011)
no assertion criteria provided
89.
GRCh37:
Chr1:120458398
GRCh38:
Chr1:119915775
NOTCH2A2316VNOTCH2-related conditionUncertain significance
(Feb 1, 2023)
criteria provided, single submitter
90.
GRCh37:
Chr1:120458400
GRCh38:
Chr1:119915777
NOTCH2Hajdu-Cheney syndromeLikely benign
(Feb 5, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr1:120458421
GRCh38:
Chr1:119915798
NOTCH2Q2308HHajdu-Cheney syndromeUncertain significance
(May 21, 2020)
criteria provided, single submitter
92.
GRCh37:
Chr1:120458421
GRCh38:
Chr1:119915798
NOTCH2not provided, Hajdu-Cheney syndrome, not specified
Benign
(Aug 16, 2022)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr1:120458424
GRCh38:
Chr1:119915801
NOTCH2not providedUncertain significance
(Jun 1, 2016)
criteria provided, single submitter
94.
GRCh37:
Chr1:120458425-120458426
GRCh38:
Chr1:119915802-119915803
NOTCH2F2307fsHajdu-Cheney syndromeLikely pathogenic
(Jan 21, 2019)
no assertion criteria provided
95.
GRCh37:
Chr1:120458429
GRCh38:
Chr1:119915806
NOTCH2T2306SHajdu-Cheney syndromeUncertain significance
(Sep 1, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr1:120458432-120458433
GRCh38:
Chr1:119915809-119915810
NOTCH2V2305fsHajdu-Cheney syndromeUncertain significance
(Sep 13, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr1:120458434
GRCh38:
Chr1:119915811
NOTCH2I2304TAlagille 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
98.
GRCh37:
Chr1:120458435
GRCh38:
Chr1:119915812
NOTCH2I2304LHajdu-Cheney syndromeUncertain significance
(Sep 15, 2021)
criteria provided, single submitter
99.
GRCh37:
Chr1:120458435-120458436
GRCh38:
Chr1:119915812-119915813
NOTCH2I2304fsHajdu-Cheney syndromePathogenic/Likely pathogenic
(May 22, 2022)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr1:120458436
GRCh38:
Chr1:119915813
NOTCH2I2304fsHajdu-Cheney syndromePathogenic
(Oct 5, 2018)
criteria provided, single submitter
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