| - 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 cases | Pathogenic
(Aug 13, 2012) | no assertion criteria provided | VCV000154886 |
| - GRCh37:
- Chr1:116602242-120672637
- GRCh38:
- Chr1:116059621-120130051
| ATP1A1, CD2, CD58, HMGCS2, HSD3B1, HSD3B2, IGSF3, NOTCH2, PTGFRN, TBX15, TTF2, CD101, WARS2, WDR3, MAN1A2, ADAM30, PHGDH, HAO2, GDAP2, TENT5C, SLC22A15, VTCN1, TRIM45, REG4, ATP1A1-AS1, ZNF697, MAB21L3, SPAG17, LINC02868, LINC00622, MIR942, MIR320B1, MIR548AC, HAO2-IT1, LOC100996263, LINC01762, LOC101929099, WARS2-AS1, LINC01525, WARS2-IT1, LOC105378933, LINC01780, CD2-LCR, LOC107161156, LOC109029529, LOC109029530, LOC110121098, LOC111365211, LOC111721703, LOC111776218, LOC112577481, LOC112577483, LOC112577484, LOC112577485, LOC113939978, LOC115801440, LOC115801441, LOC120807608, LOC120893157 | | See cases | Pathogenic
(Aug 12, 2011) | criteria provided, single submitter | VCV000058088 |
| - GRCh37:
- Chr1:119294862-120520219
- GRCh38:
- Chr1:118752239-119977596
| HMGCS2, HSD3B1, HSD3B2, NOTCH2, TBX15, WARS2, ADAM30, PHGDH, HAO2, REG4, ZNF697, LINC00622, HAO2-IT1, WARS2-AS1, WARS2-IT1, LOC105378933, LINC01780, LOC109029529, LOC109029530, LOC111721703, LOC111776218, LOC113939978 | | See cases | Likely benign
(Apr 30, 2011) | no assertion criteria provided | VCV000151326 |
| - GRCh37:
- Chr1:119476480-120471049
- GRCh38:
- Chr1:118933857-119977655
| HMGCS2, HSD3B1, HSD3B2, NOTCH2, TBX15, WARS2, ADAM30, PHGDH, HAO2, REG4, ZNF697, LINC00622, HAO2-IT1, WARS2-AS1, WARS2-IT1, LOC105378933, LINC01780, LOC109029529, LOC109029530, LOC111776218 | | See cases | Uncertain significance
(Jan 28, 2013) | no assertion criteria provided | VCV000155139 |
| - GRCh37:
- Chr1:120315510-120549585
- GRCh38:
- Chr1:119772887-120006962
| NOTCH2, ADAM30, REG4, LOC111776218, LOC120807608 | | See cases | Uncertain significance
(Jul 18, 2014) | no assertion criteria provided | VCV000153442 |
| - GRCh37:
- Chr1:120323527-120471049
- GRCh38:
- Chr1:119780904-119977655
| NOTCH2, ADAM30, REG4, LOC111776218 | | See cases | Uncertain significance
(Dec 10, 2012) | no assertion criteria provided | VCV000154812 |
| - GRCh37:
- Chr1:120359524-120471049
- GRCh38:
- Chr1:119816901-119977655
| NOTCH2, ADAM30, LOC111776218 | | See cases | Uncertain significance
(Dec 22, 2010) | no assertion criteria provided | VCV000147485 |
| - GRCh37:
- Chr1:120457929
- GRCh38:
- Chr1:119915306
| NOTCH2 | | not provided | Uncertain significance
(May 7, 2018) | criteria provided, single submitter | VCV000596950 |
| - GRCh37:
- Chr1:120457932
- GRCh38:
- Chr1:119915309
| NOTCH2 | | not provided | Uncertain significance
(Nov 13, 2017) | criteria provided, single submitter | VCV000196924 |
| - GRCh37:
- Chr1:120457946-120457948
- GRCh38:
- Chr1:119915323-119915325
| NOTCH2 | N2466del | not provided | Uncertain significance
(Sep 16, 2018) | no assertion criteria provided | VCV000591347 |
| - GRCh37:
- Chr1:120457977
- GRCh38:
- Chr1:119915354
| NOTCH2 | | not provided | Uncertain significance
(Dec 5, 2016) | criteria provided, single submitter | VCV000499063 |
| - GRCh37:
- Chr1:120457989
- GRCh38:
- Chr1:119915366
| NOTCH2 | Q2452H | not provided | Uncertain significance
(Apr 6, 2017) | criteria provided, single submitter | VCV000501321 |
| - GRCh37:
- Chr1:120458003
- GRCh38:
- Chr1:119915380
| NOTCH2 | A2448S | not provided | Uncertain significance
(Dec 28, 2017) | criteria provided, single submitter | VCV000595622 |
| - GRCh37:
- Chr1:120458004
- GRCh38:
- Chr1:119915381
| NOTCH2 | | Hajdu-Cheney syndrome, not specified | Benign
(Dec 5, 2020) | criteria provided, multiple submitters, no conflicts | VCV000261705 |
| - GRCh37:
- Chr1:120458007
- GRCh38:
- Chr1:119915384
| NOTCH2 | | not provided | Uncertain significance
(Nov 6, 2017) | criteria provided, single submitter | VCV000594602 |
| - GRCh37:
- Chr1:120458057
- GRCh38:
- Chr1:119915434
| NOTCH2 | P2430S | not provided | Uncertain significance
(Oct 31, 2017) | criteria provided, single submitter | VCV000594758 |
| - GRCh37:
- Chr1:120458065
- GRCh38:
- Chr1:119915442
| NOTCH2 | S2427T | Hajdu-Cheney syndrome | Uncertain significance
(May 7, 2019) | criteria provided, single submitter | VCV000950930 |
| - GRCh37:
- Chr1:120458082
- GRCh38:
- Chr1:119915459
| NOTCH2 | | not provided | Uncertain significance
(Aug 2, 2016) | criteria provided, single submitter | VCV000289980 |
| - GRCh37:
- Chr1:120458121
- GRCh38:
- Chr1:119915498
| NOTCH2 | | not provided | Uncertain significance
(Feb 2, 2017) | criteria provided, single submitter | VCV000500330 |
| - GRCh37:
- Chr1:120458122
- GRCh38:
- Chr1:119915499
| NOTCH2 | L2408H | Hajdu-Cheney syndrome, Hirschsprung disease 1, not specified
| Likely benign
(Dec 31, 2019) | criteria provided, multiple submitters, no conflicts | VCV000134987 |
| - GRCh37:
- Chr1:120458136
- GRCh38:
- Chr1:119915513
| NOTCH2 | S2403R | not specified | not provided
(Sep 19, 2013) | no assertion provided | VCV000134986 |
| - GRCh37:
- Chr1:120458146
- GRCh38:
- Chr1:119915523
| NOTCH2 | R2400Q | not provided | Uncertain significance
(Sep 27, 2016) | criteria provided, single submitter | VCV000497629 |
| - GRCh37:
- Chr1:120458147
- GRCh38:
- Chr1:119915524
| NOTCH2 | R2400* | Hajdu-Cheney syndrome | Pathogenic
(Oct 1, 2017) | no assertion criteria provided | VCV000518450 |
| - GRCh37:
- Chr1:120458155
- GRCh38:
- Chr1:119915532
| NOTCH2 | A2397G | not specified | not provided
(Sep 19, 2013) | no assertion provided | VCV000134984 |
| - GRCh37:
- Chr1:120458171
- GRCh38:
- Chr1:119915548
| NOTCH2 | Y2392H | not provided | Uncertain significance
(Jun 22, 2017) | criteria provided, single submitter | VCV000502692 |
| - GRCh37:
- Chr1:120458180
- GRCh38:
- Chr1:119915557
| NOTCH2 | Q2389* | Hajdu-Cheney syndrome | Pathogenic
(Jan 1, 2012) | no assertion criteria provided | VCV000030061 |
| - GRCh37:
- Chr1:120458226
- GRCh38:
- Chr1:119915603
| NOTCH2 | Y2373* | Hajdu-Cheney syndrome | Pathogenic
(Mar 6, 2011) | no assertion criteria provided | VCV000030058 |
| - GRCh37:
- Chr1:120458255
- GRCh38:
- Chr1:119915632
| NOTCH2 | Q2364fs | Hajdu-Cheney syndrome | Pathogenic | criteria provided, single submitter | VCV000973762 |
| - GRCh37:
- Chr1:120458259
- GRCh38:
- Chr1:119915636
| NOTCH2 | | not specified | Likely benign
(Feb 13, 2018) | criteria provided, single submitter | VCV000596091 |
| - GRCh37:
- Chr1:120458267
- GRCh38:
- Chr1:119915644
| NOTCH2 | Q2360* | Hajdu-Cheney syndrome | Pathogenic
(Oct 1, 2017) | no assertion criteria provided | VCV000518449 |
| - GRCh37:
- Chr1:120458270
- GRCh38:
- Chr1:119915647
| NOTCH2 | P2359A | not specified, not provided, Hajdu-Cheney syndrome
| Benign
(Aug 24, 2020) | criteria provided, multiple submitters, no conflicts | VCV000134983 |
| - GRCh37:
- Chr1:120458273
- GRCh38:
- Chr1:119915650
| NOTCH2 | M2358V | not provided | Uncertain significance
(Aug 23, 2017) | criteria provided, single submitter | VCV000593802 |
| - GRCh37:
- Chr1:120458303
- GRCh38:
- Chr1:119915680
| NOTCH2 | | not provided, Hajdu-Cheney syndrome, not specified
| Benign
(Nov 24, 2020) | criteria provided, multiple submitters, no conflicts | VCV000290772 |
| - GRCh37:
- Chr1:120458346
- GRCh38:
- Chr1:119915723
| NOTCH2 | | not provided | Uncertain significance
(Aug 25, 2016) | criteria provided, single submitter | VCV000290972 |
| - GRCh37:
- Chr1:120458348
- GRCh38:
- Chr1:119915725
| NOTCH2 | A2333P | Hajdu-Cheney syndrome, not specified | Likely benign
(Dec 31, 2019) | criteria provided, multiple submitters, no conflicts | VCV000463177 |
| - GRCh37:
- Chr1:120458348
- GRCh38:
- Chr1:119915725
| NOTCH2 | A2333T | not provided | Uncertain significance
(Oct 20, 2014) | criteria provided, single submitter | VCV000196927 |
| - GRCh37:
- Chr1:120458360
- GRCh38:
- Chr1:119915737
| NOTCH2 | P2329S | not provided | Uncertain significance
(Jul 11, 2017) | criteria provided, single submitter | VCV000593210 |
| - GRCh37:
- Chr1:120458366
- GRCh38:
- Chr1:119915743
| NOTCH2 | T2327A | not specified, not provided | Uncertain significance
(Sep 26, 2017) | criteria provided, single submitter | VCV000134982 |
| - GRCh37:
- Chr1:120458371
- GRCh38:
- Chr1:119915748
| NOTCH2 | Q2325R | not specified | not provided
(Sep 19, 2013) | no assertion provided | VCV000134981 |
| - GRCh37:
- Chr1:120458383
- GRCh38:
- Chr1:119915760
| NOTCH2 | A2321V | not provided | Uncertain significance
(Jan 30, 2018) | criteria provided, single submitter | VCV000595865 |
| - GRCh37:
- Chr1:120458388
- GRCh38:
- Chr1:119915765
| NOTCH2 | | not provided | Uncertain significance
(Aug 23, 2018) | criteria provided, single submitter | VCV000498688 |
| - GRCh37:
- Chr1:120458389
- GRCh38:
- Chr1:119915766
| NOTCH2 | A2319V | Hajdu-Cheney syndrome, not provided | Uncertain significance
(Aug 6, 2018) | criteria provided, multiple submitters, no conflicts | VCV000196925 |
| - GRCh37:
- Chr1:120458396
- GRCh38:
- Chr1:119915773
| NOTCH2 | Q2317* | Hajdu-Cheney syndrome | Pathogenic
(Mar 6, 2011) | no assertion criteria provided | VCV000030059 |
| - GRCh37:
- Chr1:120458421
- GRCh38:
- Chr1:119915798
| NOTCH2 | | not specified, not provided | Benign
(Aug 30, 2021) | criteria provided, multiple submitters, no conflicts | VCV000594467 |
| - GRCh37:
- Chr1:120458424
- GRCh38:
- Chr1:119915801
| NOTCH2 | | not provided | Uncertain significance
(Jun 1, 2016) | criteria provided, single submitter | VCV000287631 |
| - GRCh37:
- Chr1:120458425-120458426
- GRCh38:
- Chr1:119915802-119915803
| NOTCH2 | F2307fs | Hajdu-Cheney syndrome | Likely pathogenic
(Jan 21, 2019) | no assertion criteria provided | VCV000617549 |
| - GRCh37:
- Chr1:120458429
- GRCh38:
- Chr1:119915806
| NOTCH2 | T2306S | Hajdu-Cheney syndrome | Uncertain significance
(Dec 17, 2018) | criteria provided, single submitter | VCV000573584 |
| - GRCh37:
- Chr1:120458435-120458436
- GRCh38:
- Chr1:119915812-119915813
| NOTCH2 | I2304fs | Monoclonal B-Cell Lymphocytosis, Hajdu-Cheney syndrome | Pathogenic
(Sep 29, 2017) | criteria provided, single submitter | VCV000223003 |
| - GRCh37:
- Chr1:120458436
- GRCh38:
- Chr1:119915813
| NOTCH2 | I2304fs | Hajdu-Cheney syndrome | Pathogenic
(Oct 5, 2018) | criteria provided, single submitter | VCV000623649 |
| - GRCh37:
- Chr1:120458450
- GRCh38:
- Chr1:119915827
| NOTCH2 | E2299* | Hajdu-Cheney syndrome | Pathogenic
(Jan 1, 2012) | no assertion criteria provided | VCV000030060 |
| - GRCh37:
- Chr1:120458452
- GRCh38:
- Chr1:119915829
| NOTCH2 | R2298Q | not provided, Alagille syndrome 2, Hajdu-Cheney syndrome
| Uncertain significance
(Oct 31, 2018) | criteria provided, multiple submitters, no conflicts | VCV000291198 |
| - GRCh37:
- Chr1:120458468
- GRCh38:
- Chr1:119915845
| NOTCH2 | H2293fs | Hajdu-Cheney syndrome | Pathogenic
(Apr 18, 2018) | criteria provided, single submitter | VCV000976082 |
| - GRCh37:
- Chr1:120458486
- GRCh38:
- Chr1:119915863
| NOTCH2 | R2287W | not provided | Uncertain significance
(Dec 20, 2016) | criteria provided, single submitter | VCV000499172 |
| - GRCh37:
- Chr1:120458492
- GRCh38:
- Chr1:119915869
| NOTCH2 | Q2285* | Hajdu-Cheney syndrome | Pathogenic/Likely pathogenic
(Apr 16, 2018) | criteria provided, multiple submitters, no conflicts | VCV000545566 |
| - GRCh37:
- Chr1:120458508
- GRCh38:
- Chr1:119915885
| NOTCH2 | | not provided | Uncertain significance
(Aug 1, 2016) | criteria provided, single submitter | VCV000374548 |
| - GRCh37:
- Chr1:120458508
- GRCh38:
- Chr1:119915885
| NOTCH2 | H2279Q | not provided | Uncertain significance
(Sep 15, 2016) | criteria provided, single submitter | VCV000291244 |
| - GRCh37:
- Chr1:120458537
- GRCh38:
- Chr1:119915914
| NOTCH2 | M2270V | not provided | Uncertain significance
(Apr 17, 2017) | criteria provided, single submitter | VCV000501022 |
| - GRCh37:
- Chr1:120458539
- GRCh38:
- Chr1:119915916
| NOTCH2 | G2269V | not specified | Uncertain significance
(Oct 24, 2017) | criteria provided, single submitter | VCV000453074 |
| - GRCh37:
- Chr1:120458558
- GRCh38:
- Chr1:119915935
| NOTCH2 | Q2263* | not provided | Pathogenic
(Nov 26, 2019) | criteria provided, multiple submitters, no conflicts | VCV000280705 |
| - GRCh37:
- Chr1:120458578
- GRCh38:
- Chr1:119915955
| NOTCH2 | R2256H | Congenital anomalies of kidney and urinary tract, Hajdu-Cheney syndrome, not provided
| Uncertain significance
(Jul 1, 2020) | criteria provided, multiple submitters, no conflicts | VCV000499864 |
| - GRCh37:
- Chr1:120458579
- GRCh38:
- Chr1:119915956
| NOTCH2 | R2256C | not provided | Uncertain significance
(Oct 2, 2017) | criteria provided, single submitter | VCV000196926 |
| - GRCh37:
- Chr1:120458587
- GRCh38:
- Chr1:119915964
| NOTCH2 | W2253* | not provided | Pathogenic
(Sep 12, 2017) | criteria provided, single submitter | VCV000451587 |
| - GRCh37:
- Chr1:120458642
- GRCh38:
- Chr1:119916019
| NOTCH2 | S2235G | not provided | Uncertain significance
(Sep 23, 2016) | criteria provided, single submitter | VCV000291032 |
| - GRCh37:
- Chr1:120458660
- GRCh38:
- Chr1:119916037
| NOTCH2 | H2229Y | Hajdu-Cheney syndrome, not provided | Uncertain significance
(Oct 21, 2019) | criteria provided, multiple submitters, no conflicts | VCV000594642 |
| - GRCh37:
- Chr1:120458672
- GRCh38:
- Chr1:119916049
| NOTCH2 | | not provided | Uncertain significance
(Jan 22, 2018) | criteria provided, single submitter | VCV000595794 |
| - GRCh37:
- Chr1:120458686
- GRCh38:
- Chr1:119916063
| NOTCH2 | S2220* | not provided | Pathogenic
(Sep 14, 2016) | criteria provided, single submitter | VCV000280845 |
| - GRCh37:
- Chr1:120458723
- GRCh38:
- Chr1:119916100
| NOTCH2 | Q2208* | Hajdu-Cheney syndrome | Pathogenic
(Mar 6, 2011) | no assertion criteria provided | VCV000030057 |
| - GRCh37:
- Chr1:120458783
- GRCh38:
- Chr1:119916160
| NOTCH2 | A2188T | not provided | Uncertain significance
(Nov 7, 2017) | criteria provided, single submitter | VCV000594888 |
| - GRCh37:
- Chr1:120458798
- GRCh38:
- Chr1:119916175
| NOTCH2 | M2183V | not provided | Uncertain significance
(Dec 12, 2017) | criteria provided, single submitter | VCV000595364 |
| - GRCh37:
- Chr1:120458802
- GRCh38:
- Chr1:119916179
| NOTCH2 | | Hajdu-Cheney syndrome | Likely benign
(Nov 26, 2019) | criteria provided, single submitter | VCV001140767 |
| - GRCh37:
- Chr1:120458829
- GRCh38:
- Chr1:119916206
| NOTCH2 | | not specified | Likely benign
(Aug 10, 2018) | criteria provided, single submitter | VCV000598276 |
| - GRCh37:
- Chr1:120458842
- GRCh38:
- Chr1:119916219
| NOTCH2 | P2168fs | Hajdu-Cheney syndrome | Pathogenic
(Apr 1, 2018) | criteria provided, single submitter | VCV000571329 |
| - GRCh37:
- Chr1:120458849
- GRCh38:
- Chr1:119916226
| NOTCH2 | S2166P | not provided | Uncertain significance
(May 18, 2017) | criteria provided, single submitter | VCV000284332 |
| - GRCh37:
- Chr1:120458859
- GRCh38:
- Chr1:119916236
| NOTCH2 | | not specified | Likely benign
(Jan 4, 2017) | criteria provided, single submitter | VCV000499623 |
| - GRCh37:
- Chr1:120458864
- GRCh38:
- Chr1:119916241
| NOTCH2 | V2161I | not provided | Uncertain significance
(Jul 27, 2018) | criteria provided, single submitter | VCV000598183 |
| - GRCh37:
- Chr1:120458866
- GRCh38:
- Chr1:119916243
| NOTCH2 | Y2160C | not specified | Benign
(Mar 21, 2016) | criteria provided, single submitter | VCV000287036 |
| - GRCh37:
- Chr1:120458868
- GRCh38:
- Chr1:119916245
| NOTCH2 | | not provided | Uncertain significance
(Jun 8, 2016) | criteria provided, single submitter | VCV000288692 |
| - GRCh37:
- Chr1:120458876
- GRCh38:
- Chr1:119916253
| NOTCH2 | P2157T | not specified | Benign | no assertion criteria provided | VCV001049173 |
| - GRCh37:
- Chr1:120458881
- GRCh38:
- Chr1:119916258
| NOTCH2 | E2155A | not provided | Uncertain significance
(Feb 6, 2017) | criteria provided, single submitter | VCV000287235 |
| - GRCh37:
- Chr1:120458885
- GRCh38:
- Chr1:119916262
| NOTCH2 | | Alagille syndrome 2 | Likely pathogenic
(Sep 24, 2018) | no assertion criteria provided | VCV000635423 |
| - GRCh37:
- Chr1:120458895-120458896
- GRCh38:
- Chr1:119916272-119916273
| NOTCH2 | P2150fs | Hajdu-Cheney syndrome | Pathogenic
(May 29, 2017) | criteria provided, single submitter | VCV000463176 |
| - GRCh37:
- Chr1:120458918-120458919
- GRCh38:
- Chr1:119916295-119916296
| NOTCH2 | E2143fs | Hajdu-Cheney syndrome | Pathogenic
(Jul 31, 2019) | criteria provided, single submitter | VCV000951363 |
| - GRCh37:
- Chr1:120458918-120458921
- GRCh38:
- Chr1:119916295-119916298
| NOTCH2 | S2142fs | not provided | Pathogenic
(Aug 15, 2017) | criteria provided, single submitter | VCV000418907 |
| - GRCh37:
- Chr1:120458924
- GRCh38:
- Chr1:119916301
| NOTCH2 | | not specified, not provided, Hajdu-Cheney syndrome
| Benign
(Nov 22, 2020) | criteria provided, multiple submitters, no conflicts | VCV000261704 |
| - GRCh37:
- Chr1:120458933
- GRCh38:
- Chr1:119916310
| NOTCH2 | K2138E | not provided | Uncertain significance
(Jul 16, 2018) | criteria provided, single submitter | VCV000597993 |
| - GRCh37:
- Chr1:120458941-120458942
- GRCh38:
- Chr1:119916318-119916319
| NOTCH2 | L2135fs | Hajdu-Cheney syndrome | Pathogenic
(Jul 1, 2019) | criteria provided, single submitter | VCV000946387 |
| - GRCh37:
- Chr1:120458959
- GRCh38:
- Chr1:119916336
| NOTCH2 | S2129fs | Hajdu-Cheney syndrome | Pathogenic
(Jun 12, 2020) | criteria provided, single submitter | VCV001071238 |
| - GRCh37:
- Chr1:120458982
- GRCh38:
- Chr1:119916359
| NOTCH2 | K2121N | not provided | Conflicting interpretations of pathogenicity
(Jun 11, 2021) | criteria provided, conflicting interpretations | VCV000291023 |
| - GRCh37:
- Chr1:120458983
- GRCh38:
- Chr1:119916360
| NOTCH2 | K2121R | not provided | Uncertain significance
(Apr 17, 2018) | criteria provided, single submitter | VCV000282549 |
| - GRCh37:
- Chr1:120459000
- GRCh38:
- Chr1:119916377
| NOTCH2 | | not provided | Uncertain significance
(Jan 11, 2018) | criteria provided, single submitter | VCV000595692 |
| - GRCh37:
- Chr1:120459001
- GRCh38:
- Chr1:119916378
| NOTCH2 | S2115N | not provided | Uncertain significance
(Nov 29, 2017) | criteria provided, single submitter | VCV000595188 |
| - GRCh37:
- Chr1:120459007
- GRCh38:
- Chr1:119916384
| NOTCH2 | P2113L | not provided | Uncertain significance
(Apr 13, 2017) | criteria provided, single submitter | VCV000501463 |
| - GRCh37:
- Chr1:120459011
- GRCh38:
- Chr1:119916388
| NOTCH2 | M2112V | Hajdu-Cheney syndrome | Uncertain significance
(Nov 12, 2019) | criteria provided, single submitter | VCV000957155 |
| - GRCh37:
- Chr1:120459020
- GRCh38:
- Chr1:119916397
| NOTCH2 | K2109E | Alagille syndrome 2 | Uncertain significance
(Jun 3, 2020) | criteria provided, single submitter | VCV001028813 |
| - GRCh37:
- Chr1:120459032
- GRCh38:
- Chr1:119916409
| NOTCH2 | R2105W | Hajdu-Cheney syndrome | Uncertain significance
(Jan 25, 2020) | criteria provided, single submitter | VCV001044085 |
| - GRCh37:
- Chr1:120459038
- GRCh38:
- Chr1:119916415
| NOTCH2 | S2103T | not provided | Uncertain significance
(Jan 9, 2018) | criteria provided, single submitter | VCV000595680 |
| - GRCh37:
- Chr1:120459063
- GRCh38:
- Chr1:119916440
| NOTCH2 | | Hajdu-Cheney syndrome | Likely benign
(Jun 21, 2019) | criteria provided, single submitter | VCV001152901 |
| - GRCh37:
- Chr1:120459073
- GRCh38:
- Chr1:119916450
| NOTCH2 | F2091fs | Hajdu-Cheney syndrome | Pathogenic
(Mar 6, 2011) | no assertion criteria provided | VCV000030055 |
| - GRCh37:
- Chr1:120459075
- GRCh38:
- Chr1:119916452
| NOTCH2 | | not provided | Uncertain significance
(Jun 21, 2018) | criteria provided, single submitter | VCV000597758 |
| - GRCh37:
- Chr1:120459094
- GRCh38:
- Chr1:119916471
| NOTCH2 | I2084N | Hajdu-Cheney syndrome, not provided | Uncertain significance
(Aug 28, 2018) | criteria provided, multiple submitters, no conflicts | VCV000290966 |