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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr1:104868106-120471049
GRCh38:
Chr1:104325484-119977655
ADORA3, ALX3, AMPD1, AMPD2, RHOC, ATP1A1, ATP5PB, CAPZA1, CASQ2, CD2, CD53, CD58, CHI3L2, CSF1, CELSR2, GNAI3, GNAT2, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, HMGCS2, HSD3B1, HSD3B2, IGSF3, KCNA2, KCNA3, KCNA10, KCNC4, KCND3, MOV10, NGF, NHLH2, NOTCH2, NRAS, OVGP1, PSMA5, PTGFRN, RAP1A, SORT1, SARS1, SLC16A1, STXBP3, SYCP1, TAF13, TBX15, TSHB, WNT2B, CSDE1, TTF2, SLC16A4, CD101, LRIG2, TSPAN2, BCAS2, WARS2, CEPT1, VAV3, LAMTOR5, AP4B1, PHTF1, AHCYL1, WDR3, MAN1A2, ADAM30, DDX20, NTNG1, WDR47, CLCC1, PTPN22, PHGDH, CHIA, GPSM2, SLC25A24, HAO2, TRIM33, RSBN1, GDAP2, TENT5C, ST7L, PRPF38B, PRMT6, SLC22A15, LRIF1, CTTNBP2NL, INKA2, TMEM167B, OLFML3, TMIGD3, AMIGO1, ELAPOR1, RBM15, DCLRE1B, WDR77, EPS8L3, VTCN1, DENND2D, SIKE1, TRIM45, VANGL1, GPR61, REG4, PROK1, PSRC1, ATP1A1-AS1, STRIP1, ZNF697, HENMT1, MAB21L3, ATXN7L2, C1orf194, DRAM2, PIFO, C1orf162, SYT6, NBPF4, DENND2C, FNDC7, UBL4B, SPAG17, HIPK1, AKNAD1, MAGI3, TAFA3, FAM102B, SYPL2, CYB561D1, PPM1J, MYBPHL, SLC6A17, LINC02868, MIR197, RBM15-AS1, CYMP-AS1, BCL2L15, SPATA42, LINC01750, LOC643441, LINC00622, NBPF6, SCARNA2, MIR942, LINC01160, AP4B1-AS1, MIR320B1, MIR4256, INKA2-AS1, SLC16A1-AS1, MIR548AC, VAV3-AS1, LINC02586, KCND3-AS1, HAO2-IT1, KCND3-IT1, LRIG2-DT, LOC100996263, LINC01356, LAMTOR5-AS1, LINC01676, LOC101928718, HIPK1-AS1, LOC101928977, LINC01649, LINC01762, LOC101929099, WARS2-AS1, MIR7852, LINC01397, LINC01525, WARS2-IT1, LINC01677, LINC01661, SLC6A17-AS1, LINC02884, PPM1J-DT, LINC01357, LOC105378933, LINC01780, CD2-LCR, 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, NGF-AS1, MIR11399, LOC113939977, LOC113939978, LOC115801437, LOC115801438, LOC115801439, LOC115801440, LOC115801441, LOC120893149, LOC120893150, LOC120893151, LOC120893152, LOC120893153, LOC120893154, LOC120893155, LOC120893156, LOC120893157
See casesPathogenic
(Aug 13, 2012)
no assertion criteria providedVCV000154886
2.
GRCh37:
Chr1:116602242-120672637
GRCh38:
Chr1:116059621-120130051
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058088
3.
GRCh37:
Chr1:119294862-120520219
GRCh38:
Chr1:118752239-119977596
See casesLikely benign
(Apr 30, 2011)
no assertion criteria providedVCV000151326
4.
GRCh37:
Chr1:119476480-120471049
GRCh38:
Chr1:118933857-119977655
See casesUncertain significance
(Jan 28, 2013)
no assertion criteria providedVCV000155139
5.
GRCh37:
Chr1:120315510-120549585
GRCh38:
Chr1:119772887-120006962
NOTCH2, ADAM30, REG4, LOC111776218, LOC120807608See casesUncertain significance
(Jul 18, 2014)
no assertion criteria providedVCV000153442
6.
GRCh37:
Chr1:120323527-120471049
GRCh38:
Chr1:119780904-119977655
NOTCH2, ADAM30, REG4, LOC111776218See casesUncertain significance
(Dec 10, 2012)
no assertion criteria providedVCV000154812
7.
GRCh37:
Chr1:120359524-120471049
GRCh38:
Chr1:119816901-119977655
NOTCH2, ADAM30, LOC111776218See casesUncertain significance
(Dec 22, 2010)
no assertion criteria providedVCV000147485
8.
GRCh37:
Chr1:120457929
GRCh38:
Chr1:119915306
NOTCH2not providedUncertain significance
(May 7, 2018)
criteria provided, single submitterVCV000596950
9.
GRCh37:
Chr1:120457932
GRCh38:
Chr1:119915309
NOTCH2not providedUncertain significance
(Nov 13, 2017)
criteria provided, single submitterVCV000196924
10.
GRCh37:
Chr1:120457946-120457948
GRCh38:
Chr1:119915323-119915325
NOTCH2N2466delnot providedUncertain significance
(Sep 16, 2018)
no assertion criteria providedVCV000591347
11.
GRCh37:
Chr1:120457977
GRCh38:
Chr1:119915354
NOTCH2not providedUncertain significance
(Dec 5, 2016)
criteria provided, single submitterVCV000499063
12.
GRCh37:
Chr1:120457989
GRCh38:
Chr1:119915366
NOTCH2Q2452Hnot providedUncertain significance
(Apr 6, 2017)
criteria provided, single submitterVCV000501321
13.
GRCh37:
Chr1:120458003
GRCh38:
Chr1:119915380
NOTCH2A2448Snot providedUncertain significance
(Dec 28, 2017)
criteria provided, single submitterVCV000595622
14.
GRCh37:
Chr1:120458004
GRCh38:
Chr1:119915381
NOTCH2Hajdu-Cheney syndrome, not specifiedBenign
(Dec 5, 2020)
criteria provided, multiple submitters, no conflictsVCV000261705
15.
GRCh37:
Chr1:120458007
GRCh38:
Chr1:119915384
NOTCH2not providedUncertain significance
(Nov 6, 2017)
criteria provided, single submitterVCV000594602
16.
GRCh37:
Chr1:120458057
GRCh38:
Chr1:119915434
NOTCH2P2430Snot providedUncertain significance
(Oct 31, 2017)
criteria provided, single submitterVCV000594758
17.
GRCh37:
Chr1:120458065
GRCh38:
Chr1:119915442
NOTCH2S2427THajdu-Cheney syndromeUncertain significance
(May 7, 2019)
criteria provided, single submitterVCV000950930
18.
GRCh37:
Chr1:120458082
GRCh38:
Chr1:119915459
NOTCH2not providedUncertain significance
(Aug 2, 2016)
criteria provided, single submitterVCV000289980
19.
GRCh37:
Chr1:120458121
GRCh38:
Chr1:119915498
NOTCH2not providedUncertain significance
(Feb 2, 2017)
criteria provided, single submitterVCV000500330
20.
GRCh37:
Chr1:120458122
GRCh38:
Chr1:119915499
NOTCH2L2408HHajdu-Cheney syndrome, Hirschsprung disease 1, not specified
Likely benign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000134987
21.
GRCh37:
Chr1:120458136
GRCh38:
Chr1:119915513
NOTCH2S2403Rnot specifiednot provided
(Sep 19, 2013)
no assertion providedVCV000134986
22.
GRCh37:
Chr1:120458146
GRCh38:
Chr1:119915523
NOTCH2R2400Qnot providedUncertain significance
(Sep 27, 2016)
criteria provided, single submitterVCV000497629
23.
GRCh37:
Chr1:120458147
GRCh38:
Chr1:119915524
NOTCH2R2400*Hajdu-Cheney syndromePathogenic
(Oct 1, 2017)
no assertion criteria providedVCV000518450
24.
GRCh37:
Chr1:120458155
GRCh38:
Chr1:119915532
NOTCH2A2397Gnot specifiednot provided
(Sep 19, 2013)
no assertion providedVCV000134984
25.
GRCh37:
Chr1:120458171
GRCh38:
Chr1:119915548
NOTCH2Y2392Hnot providedUncertain significance
(Jun 22, 2017)
criteria provided, single submitterVCV000502692
26.
GRCh37:
Chr1:120458180
GRCh38:
Chr1:119915557
NOTCH2Q2389*Hajdu-Cheney syndromePathogenic
(Jan 1, 2012)
no assertion criteria providedVCV000030061
27.
GRCh37:
Chr1:120458226
GRCh38:
Chr1:119915603
NOTCH2Y2373*Hajdu-Cheney syndromePathogenic
(Mar 6, 2011)
no assertion criteria providedVCV000030058
28.
GRCh37:
Chr1:120458255
GRCh38:
Chr1:119915632
NOTCH2Q2364fsHajdu-Cheney syndromePathogeniccriteria provided, single submitterVCV000973762
29.
GRCh37:
Chr1:120458259
GRCh38:
Chr1:119915636
NOTCH2not specifiedLikely benign
(Feb 13, 2018)
criteria provided, single submitterVCV000596091
30.
GRCh37:
Chr1:120458267
GRCh38:
Chr1:119915644
NOTCH2Q2360*Hajdu-Cheney syndromePathogenic
(Oct 1, 2017)
no assertion criteria providedVCV000518449
31.
GRCh37:
Chr1:120458270
GRCh38:
Chr1:119915647
NOTCH2P2359Anot specified, not provided, Hajdu-Cheney syndrome
Benign
(Aug 24, 2020)
criteria provided, multiple submitters, no conflictsVCV000134983
32.
GRCh37:
Chr1:120458273
GRCh38:
Chr1:119915650
NOTCH2M2358Vnot providedUncertain significance
(Aug 23, 2017)
criteria provided, single submitterVCV000593802
33.
GRCh37:
Chr1:120458303
GRCh38:
Chr1:119915680
NOTCH2not provided, Hajdu-Cheney syndrome, not specified
Benign
(Nov 24, 2020)
criteria provided, multiple submitters, no conflictsVCV000290772
34.
GRCh37:
Chr1:120458346
GRCh38:
Chr1:119915723
NOTCH2not providedUncertain significance
(Aug 25, 2016)
criteria provided, single submitterVCV000290972
35.
GRCh37:
Chr1:120458348
GRCh38:
Chr1:119915725
NOTCH2A2333PHajdu-Cheney syndrome, not specifiedLikely benign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000463177
36.
GRCh37:
Chr1:120458348
GRCh38:
Chr1:119915725
NOTCH2A2333Tnot providedUncertain significance
(Oct 20, 2014)
criteria provided, single submitterVCV000196927
37.
GRCh37:
Chr1:120458360
GRCh38:
Chr1:119915737
NOTCH2P2329Snot providedUncertain significance
(Jul 11, 2017)
criteria provided, single submitterVCV000593210
38.
GRCh37:
Chr1:120458366
GRCh38:
Chr1:119915743
NOTCH2T2327Anot specified, not providedUncertain significance
(Sep 26, 2017)
criteria provided, single submitterVCV000134982
39.
GRCh37:
Chr1:120458371
GRCh38:
Chr1:119915748
NOTCH2Q2325Rnot specifiednot provided
(Sep 19, 2013)
no assertion providedVCV000134981
40.
GRCh37:
Chr1:120458383
GRCh38:
Chr1:119915760
NOTCH2A2321Vnot providedUncertain significance
(Jan 30, 2018)
criteria provided, single submitterVCV000595865
41.
GRCh37:
Chr1:120458388
GRCh38:
Chr1:119915765
NOTCH2not providedUncertain significance
(Aug 23, 2018)
criteria provided, single submitterVCV000498688
42.
GRCh37:
Chr1:120458389
GRCh38:
Chr1:119915766
NOTCH2A2319VHajdu-Cheney syndrome, not providedUncertain significance
(Aug 6, 2018)
criteria provided, multiple submitters, no conflictsVCV000196925
43.
GRCh37:
Chr1:120458396
GRCh38:
Chr1:119915773
NOTCH2Q2317*Hajdu-Cheney syndromePathogenic
(Mar 6, 2011)
no assertion criteria providedVCV000030059
44.
GRCh37:
Chr1:120458421
GRCh38:
Chr1:119915798
NOTCH2not specified, not providedBenign
(Aug 30, 2021)
criteria provided, multiple submitters, no conflictsVCV000594467
45.
GRCh37:
Chr1:120458424
GRCh38:
Chr1:119915801
NOTCH2not providedUncertain significance
(Jun 1, 2016)
criteria provided, single submitterVCV000287631
46.
GRCh37:
Chr1:120458425-120458426
GRCh38:
Chr1:119915802-119915803
NOTCH2F2307fsHajdu-Cheney syndromeLikely pathogenic
(Jan 21, 2019)
no assertion criteria providedVCV000617549
47.
GRCh37:
Chr1:120458429
GRCh38:
Chr1:119915806
NOTCH2T2306SHajdu-Cheney syndromeUncertain significance
(Dec 17, 2018)
criteria provided, single submitterVCV000573584
48.
GRCh37:
Chr1:120458435-120458436
GRCh38:
Chr1:119915812-119915813
NOTCH2I2304fsMonoclonal B-Cell Lymphocytosis, Hajdu-Cheney syndromePathogenic
(Sep 29, 2017)
criteria provided, single submitterVCV000223003
49.
GRCh37:
Chr1:120458436
GRCh38:
Chr1:119915813
NOTCH2I2304fsHajdu-Cheney syndromePathogenic
(Oct 5, 2018)
criteria provided, single submitterVCV000623649
50.
GRCh37:
Chr1:120458450
GRCh38:
Chr1:119915827
NOTCH2E2299*Hajdu-Cheney syndromePathogenic
(Jan 1, 2012)
no assertion criteria providedVCV000030060
51.
GRCh37:
Chr1:120458452
GRCh38:
Chr1:119915829
NOTCH2R2298Qnot provided, Alagille syndrome 2, Hajdu-Cheney syndrome
Uncertain significance
(Oct 31, 2018)
criteria provided, multiple submitters, no conflictsVCV000291198
52.
GRCh37:
Chr1:120458468
GRCh38:
Chr1:119915845
NOTCH2H2293fsHajdu-Cheney syndromePathogenic
(Apr 18, 2018)
criteria provided, single submitterVCV000976082
53.
GRCh37:
Chr1:120458486
GRCh38:
Chr1:119915863
NOTCH2R2287Wnot providedUncertain significance
(Dec 20, 2016)
criteria provided, single submitterVCV000499172
54.
GRCh37:
Chr1:120458492
GRCh38:
Chr1:119915869
NOTCH2Q2285*Hajdu-Cheney syndromePathogenic/Likely pathogenic
(Apr 16, 2018)
criteria provided, multiple submitters, no conflictsVCV000545566
55.
GRCh37:
Chr1:120458508
GRCh38:
Chr1:119915885
NOTCH2not providedUncertain significance
(Aug 1, 2016)
criteria provided, single submitterVCV000374548
56.
GRCh37:
Chr1:120458508
GRCh38:
Chr1:119915885
NOTCH2H2279Qnot providedUncertain significance
(Sep 15, 2016)
criteria provided, single submitterVCV000291244
57.
GRCh37:
Chr1:120458537
GRCh38:
Chr1:119915914
NOTCH2M2270Vnot providedUncertain significance
(Apr 17, 2017)
criteria provided, single submitterVCV000501022
58.
GRCh37:
Chr1:120458539
GRCh38:
Chr1:119915916
NOTCH2G2269Vnot specifiedUncertain significance
(Oct 24, 2017)
criteria provided, single submitterVCV000453074
59.
GRCh37:
Chr1:120458558
GRCh38:
Chr1:119915935
NOTCH2Q2263*not providedPathogenic
(Nov 26, 2019)
criteria provided, multiple submitters, no conflictsVCV000280705
60.
GRCh37:
Chr1:120458578
GRCh38:
Chr1:119915955
NOTCH2R2256HCongenital anomalies of kidney and urinary tract, Hajdu-Cheney syndrome, not provided
Uncertain significance
(Jul 1, 2020)
criteria provided, multiple submitters, no conflictsVCV000499864
61.
GRCh37:
Chr1:120458579
GRCh38:
Chr1:119915956
NOTCH2R2256Cnot providedUncertain significance
(Oct 2, 2017)
criteria provided, single submitterVCV000196926
62.
GRCh37:
Chr1:120458587
GRCh38:
Chr1:119915964
NOTCH2W2253*not providedPathogenic
(Sep 12, 2017)
criteria provided, single submitterVCV000451587
63.
GRCh37:
Chr1:120458642
GRCh38:
Chr1:119916019
NOTCH2S2235Gnot providedUncertain significance
(Sep 23, 2016)
criteria provided, single submitterVCV000291032
64.
GRCh37:
Chr1:120458660
GRCh38:
Chr1:119916037
NOTCH2H2229YHajdu-Cheney syndrome, not providedUncertain significance
(Oct 21, 2019)
criteria provided, multiple submitters, no conflictsVCV000594642
65.
GRCh37:
Chr1:120458672
GRCh38:
Chr1:119916049
NOTCH2not providedUncertain significance
(Jan 22, 2018)
criteria provided, single submitterVCV000595794
66.
GRCh37:
Chr1:120458686
GRCh38:
Chr1:119916063
NOTCH2S2220*not providedPathogenic
(Sep 14, 2016)
criteria provided, single submitterVCV000280845
67.
GRCh37:
Chr1:120458723
GRCh38:
Chr1:119916100
NOTCH2Q2208*Hajdu-Cheney syndromePathogenic
(Mar 6, 2011)
no assertion criteria providedVCV000030057
68.
GRCh37:
Chr1:120458783
GRCh38:
Chr1:119916160
NOTCH2A2188Tnot providedUncertain significance
(Nov 7, 2017)
criteria provided, single submitterVCV000594888
69.
GRCh37:
Chr1:120458798
GRCh38:
Chr1:119916175
NOTCH2M2183Vnot providedUncertain significance
(Dec 12, 2017)
criteria provided, single submitterVCV000595364
70.
GRCh37:
Chr1:120458802
GRCh38:
Chr1:119916179
NOTCH2Hajdu-Cheney syndromeLikely benign
(Nov 26, 2019)
criteria provided, single submitterVCV001140767
71.
GRCh37:
Chr1:120458829
GRCh38:
Chr1:119916206
NOTCH2not specifiedLikely benign
(Aug 10, 2018)
criteria provided, single submitterVCV000598276
72.
GRCh37:
Chr1:120458842
GRCh38:
Chr1:119916219
NOTCH2P2168fsHajdu-Cheney syndromePathogenic
(Apr 1, 2018)
criteria provided, single submitterVCV000571329
73.
GRCh37:
Chr1:120458849
GRCh38:
Chr1:119916226
NOTCH2S2166Pnot providedUncertain significance
(May 18, 2017)
criteria provided, single submitterVCV000284332
74.
GRCh37:
Chr1:120458859
GRCh38:
Chr1:119916236
NOTCH2not specifiedLikely benign
(Jan 4, 2017)
criteria provided, single submitterVCV000499623
75.
GRCh37:
Chr1:120458864
GRCh38:
Chr1:119916241
NOTCH2V2161Inot providedUncertain significance
(Jul 27, 2018)
criteria provided, single submitterVCV000598183
76.
GRCh37:
Chr1:120458866
GRCh38:
Chr1:119916243
NOTCH2Y2160Cnot specifiedBenign
(Mar 21, 2016)
criteria provided, single submitterVCV000287036
77.
GRCh37:
Chr1:120458868
GRCh38:
Chr1:119916245
NOTCH2not providedUncertain significance
(Jun 8, 2016)
criteria provided, single submitterVCV000288692
78.
GRCh37:
Chr1:120458876
GRCh38:
Chr1:119916253
NOTCH2P2157Tnot specifiedBenignno assertion criteria providedVCV001049173
79.
GRCh37:
Chr1:120458881
GRCh38:
Chr1:119916258
NOTCH2E2155Anot providedUncertain significance
(Feb 6, 2017)
criteria provided, single submitterVCV000287235
80.
GRCh37:
Chr1:120458885
GRCh38:
Chr1:119916262
NOTCH2Alagille syndrome 2Likely pathogenic
(Sep 24, 2018)
no assertion criteria providedVCV000635423
81.
GRCh37:
Chr1:120458895-120458896
GRCh38:
Chr1:119916272-119916273
NOTCH2P2150fsHajdu-Cheney syndromePathogenic
(May 29, 2017)
criteria provided, single submitterVCV000463176
82.
GRCh37:
Chr1:120458918-120458919
GRCh38:
Chr1:119916295-119916296
NOTCH2E2143fsHajdu-Cheney syndromePathogenic
(Jul 31, 2019)
criteria provided, single submitterVCV000951363
83.
GRCh37:
Chr1:120458918-120458921
GRCh38:
Chr1:119916295-119916298
NOTCH2S2142fsnot providedPathogenic
(Aug 15, 2017)
criteria provided, single submitterVCV000418907
84.
GRCh37:
Chr1:120458924
GRCh38:
Chr1:119916301
NOTCH2not specified, not provided, Hajdu-Cheney syndrome
Benign
(Nov 22, 2020)
criteria provided, multiple submitters, no conflictsVCV000261704
85.
GRCh37:
Chr1:120458933
GRCh38:
Chr1:119916310
NOTCH2K2138Enot providedUncertain significance
(Jul 16, 2018)
criteria provided, single submitterVCV000597993
86.
GRCh37:
Chr1:120458941-120458942
GRCh38:
Chr1:119916318-119916319
NOTCH2L2135fsHajdu-Cheney syndromePathogenic
(Jul 1, 2019)
criteria provided, single submitterVCV000946387
87.
GRCh37:
Chr1:120458959
GRCh38:
Chr1:119916336
NOTCH2S2129fsHajdu-Cheney syndromePathogenic
(Jun 12, 2020)
criteria provided, single submitterVCV001071238
88.
GRCh37:
Chr1:120458982
GRCh38:
Chr1:119916359
NOTCH2K2121Nnot providedConflicting interpretations of pathogenicity
(Jun 11, 2021)
criteria provided, conflicting interpretationsVCV000291023
89.
GRCh37:
Chr1:120458983
GRCh38:
Chr1:119916360
NOTCH2K2121Rnot providedUncertain significance
(Apr 17, 2018)
criteria provided, single submitterVCV000282549
90.
GRCh37:
Chr1:120459000
GRCh38:
Chr1:119916377
NOTCH2not providedUncertain significance
(Jan 11, 2018)
criteria provided, single submitterVCV000595692
91.
GRCh37:
Chr1:120459001
GRCh38:
Chr1:119916378
NOTCH2S2115Nnot providedUncertain significance
(Nov 29, 2017)
criteria provided, single submitterVCV000595188
92.
GRCh37:
Chr1:120459007
GRCh38:
Chr1:119916384
NOTCH2P2113Lnot providedUncertain significance
(Apr 13, 2017)
criteria provided, single submitterVCV000501463
93.
GRCh37:
Chr1:120459011
GRCh38:
Chr1:119916388
NOTCH2M2112VHajdu-Cheney syndromeUncertain significance
(Nov 12, 2019)
criteria provided, single submitterVCV000957155
94.
GRCh37:
Chr1:120459020
GRCh38:
Chr1:119916397
NOTCH2K2109EAlagille syndrome 2Uncertain significance
(Jun 3, 2020)
criteria provided, single submitterVCV001028813
95.
GRCh37:
Chr1:120459032
GRCh38:
Chr1:119916409
NOTCH2R2105WHajdu-Cheney syndromeUncertain significance
(Jan 25, 2020)
criteria provided, single submitterVCV001044085
96.
GRCh37:
Chr1:120459038
GRCh38:
Chr1:119916415
NOTCH2S2103Tnot providedUncertain significance
(Jan 9, 2018)
criteria provided, single submitterVCV000595680
97.
GRCh37:
Chr1:120459063
GRCh38:
Chr1:119916440
NOTCH2Hajdu-Cheney syndromeLikely benign
(Jun 21, 2019)
criteria provided, single submitterVCV001152901
98.
GRCh37:
Chr1:120459073
GRCh38:
Chr1:119916450
NOTCH2F2091fsHajdu-Cheney syndromePathogenic
(Mar 6, 2011)
no assertion criteria providedVCV000030055
99.
GRCh37:
Chr1:120459075
GRCh38:
Chr1:119916452
NOTCH2not providedUncertain significance
(Jun 21, 2018)
criteria provided, single submitterVCV000597758
100.
GRCh37:
Chr1:120459094
GRCh38:
Chr1:119916471
NOTCH2I2084NHajdu-Cheney syndrome, not providedUncertain significance
(Aug 28, 2018)
criteria provided, multiple submitters, no conflictsVCV000290966
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