NOTCH2[gene] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1548861.	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3 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
Select item 580882.	GRCh38/hg38 1p13.1-12(chr1:116059621-120130051)x3 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
Select item 1513263.	GRCh38/hg38 1p12(chr1:118752239-119977596)x3 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
Select item 1551394.	GRCh38/hg38 1p12(chr1:118933857-119977655)x1 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
Select item 1534425.	GRCh38/hg38 1p12(chr1:119772887-120006962)x3 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
Select item 1548126.	GRCh38/hg38 1p12(chr1:119780904-119977655)x3 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
Select item 1474857.	GRCh38/hg38 1p12(chr1:119816901-119977655)x3 GRCh37: Chr1:120359524-120471049 GRCh38: Chr1:119816901-119977655	ADAM30, LOC111776218, LOC122094911, LOC129388600, NOTCH2		See cases	Uncertain significance (Dec 22, 2010)	no assertion criteria provided
Select item 5969508.	NM_024408.4(NOTCH2):c.7416A>C (p.Ter2472Cys) GRCh37: Chr1:120457929 GRCh38: Chr1:119915306	NOTCH2		not provided	Uncertain significance (May 7, 2018)	criteria provided, single submitter
Select item 19273489.	NM_024408.4(NOTCH2):c.7413G>C (p.Ala2471=) GRCh37: Chr1:120457932 GRCh38: Chr1:119915309	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 19692410.	NM_024408.4(NOTCH2):c.7413G>A (p.Ala2471=) GRCh37: Chr1:120457932 GRCh38: Chr1:119915309	NOTCH2		not provided, Hajdu-Cheney syndrome	Conflicting interpretations of pathogenicity (Jul 25, 2022)	criteria provided, conflicting interpretations
Select item 211896911.	NM_024408.4(NOTCH2):c.7405G>A (p.Val2469Ile) GRCh37: Chr1:120457940 GRCh38: Chr1:119915317	NOTCH2	V2469I	Hajdu-Cheney syndrome	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 196473512.	NM_024408.4(NOTCH2):c.7402C>A (p.Gln2468Lys) GRCh37: Chr1:120457943 GRCh38: Chr1:119915320	NOTCH2	Q2468K	Hajdu-Cheney syndrome	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 59134713.	NM_024408.4(NOTCH2):c.7391ACA[2] (p.Asn2466del) GRCh37: Chr1:120457946-120457948 GRCh38: Chr1:119915323-119915325	NOTCH2	N2466del	not provided	Uncertain significance (May 5, 2020)	criteria provided, single submitter
Select item 137140214.	NM_024408.4(NOTCH2):c.7377G>A (p.Met2459Ile) 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
Select item 210248615.	NM_024408.4(NOTCH2):c.7368G>C (p.Gly2456=) GRCh37: Chr1:120457977 GRCh38: Chr1:119915354	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 49906316.	NM_024408.4(NOTCH2):c.7368G>A (p.Gly2456=) GRCh37: Chr1:120457977 GRCh38: Chr1:119915354	NOTCH2		not provided, Hajdu-Cheney syndrome	Conflicting interpretations of pathogenicity (Jul 29, 2022)	criteria provided, conflicting interpretations
Select item 147765817.	NM_024408.4(NOTCH2):c.7358G>A (p.Arg2453Gln) GRCh37: Chr1:120457987 GRCh38: Chr1:119915364	NOTCH2	R2453Q	Hajdu-Cheney syndrome	Uncertain significance (Oct 18, 2021)	criteria provided, single submitter
Select item 138361818.	NM_024408.4(NOTCH2):c.7356G>T (p.Gln2452His) GRCh37: Chr1:120457989 GRCh38: Chr1:119915366	NOTCH2	Q2452H	Hajdu-Cheney syndrome	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 50132119.	NM_024408.4(NOTCH2):c.7356G>C (p.Gln2452His) GRCh37: Chr1:120457989 GRCh38: Chr1:119915366	NOTCH2	Q2452H	not provided	Uncertain significance (Apr 6, 2017)	criteria provided, single submitter
Select item 201521720.	NM_024408.4(NOTCH2):c.7353T>C (p.Gly2451=) GRCh37: Chr1:120457992 GRCh38: Chr1:119915369	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 59562221.	NM_024408.4(NOTCH2):c.7342G>T (p.Ala2448Ser) 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
Select item 26170522.	NM_024408.4(NOTCH2):c.7341T>A (p.Gly2447=) GRCh37: Chr1:120458004 GRCh38: Chr1:119915381	NOTCH2		not specified, not provided, Hajdu-Cheney syndrome	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 206854623.	NM_024408.4(NOTCH2):c.7338G>T (p.Gly2446=) GRCh37: Chr1:120458007 GRCh38: Chr1:119915384	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 59460224.	NM_024408.4(NOTCH2):c.7338G>A (p.Gly2446=) GRCh37: Chr1:120458007 GRCh38: Chr1:119915384	NOTCH2		not provided, Hajdu-Cheney syndrome	Conflicting interpretations of pathogenicity (Jul 30, 2022)	criteria provided, conflicting interpretations
Select item 142492525.	NM_024408.4(NOTCH2):c.7336G>C (p.Gly2446Arg) GRCh37: Chr1:120458009 GRCh38: Chr1:119915386	NOTCH2	G2446R	Hajdu-Cheney syndrome	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 162926626.	NM_024408.4(NOTCH2):c.7326C>T (p.Ser2442=) 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
Select item 205063027.	NM_024408.4(NOTCH2):c.7323C>A (p.Thr2441=) GRCh37: Chr1:120458022 GRCh38: Chr1:119915399	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Jun 4, 2022)	criteria provided, single submitter
Select item 200113328.	NM_024408.4(NOTCH2):c.7317G>T (p.Val2439=) GRCh37: Chr1:120458028 GRCh38: Chr1:119915405	NOTCH2		Hajdu-Cheney syndrome	Likely benign (May 30, 2022)	criteria provided, single submitter
Select item 59475829.	NM_024408.4(NOTCH2):c.7288C>T (p.Pro2430Ser) GRCh37: Chr1:120458057 GRCh38: Chr1:119915434	NOTCH2	P2430S	not provided	Uncertain significance (Oct 31, 2017)	criteria provided, single submitter
Select item 95093030.	NM_024408.4(NOTCH2):c.7280G>C (p.Ser2427Thr) GRCh37: Chr1:120458065 GRCh38: Chr1:119915442	NOTCH2	S2427T	Hajdu-Cheney syndrome	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 193038531.	NM_024408.4(NOTCH2):c.7269C>A (p.Asp2423Glu) GRCh37: Chr1:120458076 GRCh38: Chr1:119915453	NOTCH2	D2423E	Hajdu-Cheney syndrome	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 28998032.	NM_024408.4(NOTCH2):c.7263T>A (p.Ser2421=) GRCh37: Chr1:120458082 GRCh38: Chr1:119915459	NOTCH2		Hajdu-Cheney syndrome, not provided	Conflicting interpretations of pathogenicity (Mar 19, 2022)	criteria provided, conflicting interpretations
Select item 50033033.	NM_024408.4(NOTCH2):c.7224C>G (p.Leu2408=) GRCh37: Chr1:120458121 GRCh38: Chr1:119915498	NOTCH2		not provided	Uncertain significance (Feb 2, 2017)	criteria provided, single submitter
Select item 13498734.	NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His) 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
Select item 206165635.	NM_024408.4(NOTCH2):c.7218T>C (p.Gly2406=) GRCh37: Chr1:120458127 GRCh38: Chr1:119915504	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 199802336.	NM_024408.4(NOTCH2):c.7217G>T (p.Gly2406Val) GRCh37: Chr1:120458128 GRCh38: Chr1:119915505	NOTCH2	G2406V	Hajdu-Cheney syndrome	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 13498637.	NM_024408.4(NOTCH2):c.7209T>A (p.Ser2403Arg) GRCh37: Chr1:120458136 GRCh38: Chr1:119915513	NOTCH2	S2403R	not specified	not provided (Sep 19, 2013)	no assertion provided
Select item 266299338.	NM_024408.4(NOTCH2):c.7205C>G (p.Pro2402Arg) GRCh37: Chr1:120458140 GRCh38: Chr1:119915517	NOTCH2	P2402R	not provided	Uncertain significance (Apr 17, 2023)	criteria provided, single submitter
Select item 49762939.	NM_024408.4(NOTCH2):c.7199G>A (p.Arg2400Gln) GRCh37: Chr1:120458146 GRCh38: Chr1:119915523	NOTCH2	R2400Q	not provided, Hajdu-Cheney syndrome	Conflicting interpretations of pathogenicity (Sep 20, 2022)	criteria provided, conflicting interpretations
Select item 51845040.	NM_024408.4(NOTCH2):c.7198C>T (p.Arg2400Ter) GRCh37: Chr1:120458147 GRCh38: Chr1:119915524	NOTCH2	R2400*	not provided, Hajdu-Cheney syndrome	Conflicting interpretations of pathogenicity (Feb 10, 2023)	criteria provided, conflicting interpretations
Select item 198553341.	NM_024408.4(NOTCH2):c.7197G>A (p.Glu2399=) GRCh37: Chr1:120458148 GRCh38: Chr1:119915525	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 257934642.	NM_024408.4(NOTCH2):c.7195G>A (p.Glu2399Lys) GRCh37: Chr1:120458150 GRCh38: Chr1:119915527	NOTCH2	E2399K	not provided	Uncertain significance (Mar 1, 2023)	criteria provided, single submitter
Select item 13498443.	NM_024408.4(NOTCH2):c.7190C>G (p.Ala2397Gly) 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
Select item 204809244.	NM_024408.4(NOTCH2):c.7176T>C (p.Tyr2392=) GRCh37: Chr1:120458169 GRCh38: Chr1:119915546	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 50269245.	NM_024408.4(NOTCH2):c.7174T>C (p.Tyr2392His) GRCh37: Chr1:120458171 GRCh38: Chr1:119915548	NOTCH2	Y2392H	not provided	Uncertain significance (Jun 22, 2017)	criteria provided, single submitter
Select item 3006146.	NM_024408.4(NOTCH2):c.7165C>T (p.Gln2389Ter) GRCh37: Chr1:120458180 GRCh38: Chr1:119915557	NOTCH2	Q2389*	Hajdu-Cheney syndrome	Pathogenic (Jan 1, 2012)	no assertion criteria provided
Select item 209676347.	NM_024408.4(NOTCH2):c.7159C>A (p.Pro2387Thr) 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
Select item 161692448.	NM_024408.4(NOTCH2):c.7146G>A (p.Lys2382=) GRCh37: Chr1:120458199 GRCh38: Chr1:119915576	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 157467049.	NM_024408.4(NOTCH2):c.7140G>C (p.Val2380=) 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
Select item 219766350.	NM_024408.4(NOTCH2):c.7136C>T (p.Ser2379Phe) GRCh37: Chr1:120458209 GRCh38: Chr1:119915586	NOTCH2	S2379F	Hajdu-Cheney syndrome	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 195378751.	NM_024408.4(NOTCH2):c.7130C>T (p.Pro2377Leu) GRCh37: Chr1:120458215 GRCh38: Chr1:119915592	NOTCH2	P2377L	Hajdu-Cheney syndrome	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 205024452.	NM_024408.4(NOTCH2):c.7129C>A (p.Pro2377Thr) GRCh37: Chr1:120458216 GRCh38: Chr1:119915593	NOTCH2	P2377T	Hajdu-Cheney syndrome	Uncertain significance (Dec 20, 2021)	criteria provided, single submitter
Select item 213883653.	NM_024408.4(NOTCH2):c.7126T>C (p.Phe2376Leu) GRCh37: Chr1:120458219 GRCh38: Chr1:119915596	NOTCH2	F2376L	Hajdu-Cheney syndrome	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 220232154.	NM_024408.4(NOTCH2):c.7125T>C (p.Pro2375=) GRCh37: Chr1:120458220 GRCh38: Chr1:119915597	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 207798555.	NM_024408.4(NOTCH2):c.7125T>G (p.Pro2375=) GRCh37: Chr1:120458220 GRCh38: Chr1:119915597	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Mar 13, 2022)	criteria provided, single submitter
Select item 263904056.	NM_024408.4(NOTCH2):c.7120C>G (p.His2374Asp) GRCh37: Chr1:120458225 GRCh38: Chr1:119915602	NOTCH2	H2374D	not provided	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 3005857.	NM_024408.4(NOTCH2):c.7119T>G (p.Tyr2373Ter) GRCh37: Chr1:120458226 GRCh38: Chr1:119915603	NOTCH2	Y2373*	Hajdu-Cheney syndrome	Pathogenic (Mar 6, 2011)	no assertion criteria provided
Select item 218513258.	NM_024408.4(NOTCH2):c.7114G>A (p.Ala2372Thr) GRCh37: Chr1:120458231 GRCh38: Chr1:119915608	NOTCH2	A2372T	Hajdu-Cheney syndrome	Uncertain significance (Oct 23, 2022)	criteria provided, single submitter
Select item 212784259.	NM_024408.4(NOTCH2):c.7099C>T (p.Gln2367Ter) GRCh37: Chr1:120458246 GRCh38: Chr1:119915623	NOTCH2	Q2367*	Hajdu-Cheney syndrome	Pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 213064760.	NM_024408.4(NOTCH2):c.7097C>T (p.Ala2366Val) GRCh37: Chr1:120458248 GRCh38: Chr1:119915625	NOTCH2	A2366V	Hajdu-Cheney syndrome	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 97376261.	NM_024408.4(NOTCH2):c.7090del (p.Gln2364fs) GRCh37: Chr1:120458255 GRCh38: Chr1:119915632	NOTCH2	Q2364fs	Hajdu-Cheney syndrome	Pathogenic	criteria provided, single submitter
Select item 59609162.	NM_024408.4(NOTCH2):c.7086C>T (p.Asp2362=) 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
Select item 51844963.	NM_024408.4(NOTCH2):c.7078C>T (p.Gln2360Ter) GRCh37: Chr1:120458267 GRCh38: Chr1:119915644	NOTCH2	Q2360*	Hajdu-Cheney syndrome	Pathogenic (Oct 1, 2017)	no assertion criteria provided
Select item 13498364.	NM_024408.4(NOTCH2):c.7075C>G (p.Pro2359Ala) 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
Select item 59380265.	NM_024408.4(NOTCH2):c.7072A>G (p.Met2358Val) 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
Select item 191396166.	NM_024408.4(NOTCH2):c.7070T>C (p.Met2357Thr) GRCh37: Chr1:120458275 GRCh38: Chr1:119915652	NOTCH2	M2357T	Hajdu-Cheney syndrome	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 211895967.	NM_024408.4(NOTCH2):c.7069A>G (p.Met2357Val) GRCh37: Chr1:120458276 GRCh38: Chr1:119915653	NOTCH2	M2357V	Hajdu-Cheney syndrome	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 196706668.	NM_024408.4(NOTCH2):c.7055C>T (p.Ala2352Val) GRCh37: Chr1:120458290 GRCh38: Chr1:119915667	NOTCH2	A2352V	Hajdu-Cheney syndrome	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 258145869.	NM_024408.4(NOTCH2):c.7046C>T (p.Pro2349Leu) GRCh37: Chr1:120458299 GRCh38: Chr1:119915676	NOTCH2	P2349L	not specified	Uncertain significance (Aug 30, 2023)	criteria provided, single submitter
Select item 29077270.	NM_024408.4(NOTCH2):c.7042T>C (p.Leu2348=) 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
Select item 140569871.	NM_024408.4(NOTCH2):c.7040G>A (p.Arg2347His) 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
Select item 156109472.	NM_024408.4(NOTCH2):c.7038C>G (p.Ala2346=) GRCh37: Chr1:120458307 GRCh38: Chr1:119915684	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 232268573.	NM_024408.4(NOTCH2):c.7036G>A (p.Ala2346Thr) GRCh37: Chr1:120458309 GRCh38: Chr1:119915686	NOTCH2	A2346T	Inborn genetic diseases	Uncertain significance (Nov 7, 2022)	criteria provided, single submitter
Select item 199245774.	NM_024408.4(NOTCH2):c.7030G>T (p.Glu2344Ter) GRCh37: Chr1:120458315 GRCh38: Chr1:119915692	NOTCH2	E2344*	Hajdu-Cheney syndrome	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 257810775.	NM_024408.4(NOTCH2):c.7021C>T (p.Gln2341Ter) GRCh37: Chr1:120458324 GRCh38: Chr1:119915701	NOTCH2	Q2341*	not provided	Pathogenic (Mar 3, 2023)	criteria provided, single submitter
Select item 135373476.	NM_024408.4(NOTCH2):c.7016T>C (p.Met2339Thr) 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
Select item 156186577.	NM_024408.4(NOTCH2):c.7002C>T (p.Gly2334=) GRCh37: Chr1:120458343 GRCh38: Chr1:119915720	NOTCH2		Hajdu-Cheney syndrome	Likely benign (May 27, 2021)	criteria provided, single submitter
Select item 29097278.	NM_024408.4(NOTCH2):c.6999G>A (p.Ala2333=) 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
Select item 46317779.	NM_024408.4(NOTCH2):c.6997G>C (p.Ala2333Pro) 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
Select item 19692780.	NM_024408.4(NOTCH2):c.6997G>A (p.Ala2333Thr) GRCh37: Chr1:120458348 GRCh38: Chr1:119915725	NOTCH2	A2333T	not provided	Uncertain significance (Oct 20, 2014)	criteria provided, single submitter
Select item 59321081.	NM_024408.4(NOTCH2):c.6985C>T (p.Pro2329Ser) 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
Select item 151367782.	NM_024408.4(NOTCH2):c.6982T>C (p.Cys2328Arg) GRCh37: Chr1:120458363 GRCh38: Chr1:119915740	NOTCH2	C2328R	Hajdu-Cheney syndrome	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 13498283.	NM_024408.4(NOTCH2):c.6979A>G (p.Thr2327Ala) 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
Select item 13498184.	NM_024408.4(NOTCH2):c.6974A>G (p.Gln2325Arg) GRCh37: Chr1:120458371 GRCh38: Chr1:119915748	NOTCH2	Q2325R	not specified	not provided (Sep 19, 2013)	no assertion provided
Select item 59586585.	NM_024408.4(NOTCH2):c.6962C>T (p.Ala2321Val) GRCh37: Chr1:120458383 GRCh38: Chr1:119915760	NOTCH2	A2321V	not provided	Uncertain significance (Jan 30, 2018)	criteria provided, single submitter
Select item 49868886.	NM_024408.4(NOTCH2):c.6957G>A (p.Ala2319=) GRCh37: Chr1:120458388 GRCh38: Chr1:119915765	NOTCH2		not provided, Hajdu-Cheney syndrome	Conflicting interpretations of pathogenicity (Jun 1, 2023)	criteria provided, conflicting interpretations
Select item 19692587.	NM_024408.4(NOTCH2):c.6956C>T (p.Ala2319Val) 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
Select item 3005988.	NM_024408.4(NOTCH2):c.6949C>T (p.Gln2317Ter) GRCh37: Chr1:120458396 GRCh38: Chr1:119915773	NOTCH2	Q2317*	Hajdu-Cheney syndrome	Pathogenic (Mar 6, 2011)	no assertion criteria provided
Select item 263061389.	NM_024408.4(NOTCH2):c.6947C>T (p.Ala2316Val) GRCh37: Chr1:120458398 GRCh38: Chr1:119915775	NOTCH2	A2316V	NOTCH2-related condition	Uncertain significance (Feb 1, 2023)	criteria provided, single submitter
Select item 158717690.	NM_024408.4(NOTCH2):c.6945T>C (p.Ile2315=) GRCh37: Chr1:120458400 GRCh38: Chr1:119915777	NOTCH2		Hajdu-Cheney syndrome	Likely benign (Feb 5, 2022)	criteria provided, single submitter
Select item 180558391.	NM_024408.4(NOTCH2):c.6924G>C (p.Gln2308His) GRCh37: Chr1:120458421 GRCh38: Chr1:119915798	NOTCH2	Q2308H	Hajdu-Cheney syndrome	Uncertain significance (May 21, 2020)	criteria provided, single submitter
Select item 59446792.	NM_024408.4(NOTCH2):c.6924G>A (p.Gln2308=) GRCh37: Chr1:120458421 GRCh38: Chr1:119915798	NOTCH2		not provided, Hajdu-Cheney syndrome, not specified	Benign (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28763193.	NM_024408.4(NOTCH2):c.6921C>T (p.Phe2307=) GRCh37: Chr1:120458424 GRCh38: Chr1:119915801	NOTCH2		not provided	Uncertain significance (Jun 1, 2016)	criteria provided, single submitter
Select item 61754994.	NM_024408.4(NOTCH2):c.6919_6920del (p.Phe2307fs) GRCh37: Chr1:120458425-120458426 GRCh38: Chr1:119915802-119915803	NOTCH2	F2307fs	Hajdu-Cheney syndrome	Likely pathogenic (Jan 21, 2019)	no assertion criteria provided
Select item 57358495.	NM_024408.4(NOTCH2):c.6916A>T (p.Thr2306Ser) GRCh37: Chr1:120458429 GRCh38: Chr1:119915806	NOTCH2	T2306S	Hajdu-Cheney syndrome	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 138149696.	NM_024408.4(NOTCH2):c.6912dup (p.Val2305fs) GRCh37: Chr1:120458432-120458433 GRCh38: Chr1:119915809-119915810	NOTCH2	V2305fs	Hajdu-Cheney syndrome	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 143611897.	NM_024408.4(NOTCH2):c.6911T>C (p.Ile2304Thr) 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
Select item 151946298.	NM_024408.4(NOTCH2):c.6910A>C (p.Ile2304Leu) GRCh37: Chr1:120458435 GRCh38: Chr1:119915812	NOTCH2	I2304L	Hajdu-Cheney syndrome	Uncertain significance (Sep 15, 2021)	criteria provided, single submitter
Select item 22300399.	NM_024408.4(NOTCH2):c.6909dup (p.Ile2304fs) 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
Select item 623649100.	NM_024408.4(NOTCH2):c.6909del (p.Ile2304fs) GRCh37: Chr1:120458436 GRCh38: Chr1:119915813	NOTCH2	I2304fs	Hajdu-Cheney syndrome	Pathogenic (Oct 5, 2018)	criteria provided, single submitter

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