NOTCH2 (notch receptor 2) - Rat Genome Database

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Gene: NOTCH2 (notch receptor 2) Homo sapiens
Analyze
Symbol: NOTCH2
Name: notch receptor 2
RGD ID: 733357
HGNC Page HGNC:7882
Description: Enables DNA-binding transcription activator activity, RNA polymerase II-specific and cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including heart development; positive regulation of DNA-templated transcription; and positive regulation of intracellular signal transduction. Located in cell surface; nucleoplasm; and plasma membrane. Part of receptor complex. Implicated in Alagille syndrome and Hajdu-Cheney syndrome. Biomarker of multiple myeloma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AGS2; HJCYS; hN2; neurogenic locus notch homolog protein 2; notch 2; notch gene homolog 2, (drosophila); Notch homolog 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: NOTCH2P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381119,911,553 - 120,069,662 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1119,911,553 - 120,100,779 (-)EnsemblGRCh38hg38GRCh38
GRCh371120,454,176 - 120,612,276 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361120,255,699 - 120,413,799 (-)NCBINCBI36Build 36hg18NCBI36
Build 341120,166,219 - 120,324,318NCBI
Celera1118,684,898 - 118,760,431 (-)NCBICelera
Cytogenetic Map1p12NCBI
HuRef1118,312,713 - 118,398,477 (-)NCBIHuRef
CHM1_11120,569,670 - 120,727,793 (-)NCBICHM1_1
T2T-CHM13v2.01119,924,810 - 120,082,923 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2-hydroxypropanoic acid  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3-methyladenine  (ISO)
3-methylcholanthrene  (ISO)
3-methylfuran  (ISO)
4,4'-sulfonyldiphenol  (EXP)
6-propyl-2-thiouracil  (EXP)
acrolein  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
alpha-naphthoflavone  (ISO)
alpha-pinene  (EXP)
ammonium chloride  (ISO)
androgen antagonist  (ISO)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-chloroethyl) sulfide  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
bortezomib  (EXP)
buspirone  (ISO)
Butylparaben  (ISO)
butyric acid  (EXP)
C60 fullerene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
calciol  (ISO)
carbamazepine  (EXP)
chlorpyrifos  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
clobetasol  (ISO)
clozapine  (EXP)
coumarin  (EXP)
crocidolite asbestos  (EXP)
Cuprizon  (ISO)
cypermethrin  (EXP,ISO)
DAPT  (EXP,ISO)
DDE  (ISO)
deguelin  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
dieldrin  (EXP,ISO)
dioxygen  (ISO)
doxorubicin  (EXP)
entinostat  (EXP)
enzacamene  (ISO)
enzalutamide  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
folic acid  (ISO)
genistein  (ISO)
gentamycin  (ISO)
indometacin  (EXP)
lead diacetate  (ISO)
lead(0)  (ISO)
leflunomide  (ISO)
linuron  (ISO)
melatonin  (ISO)
methoxychlor  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
monocrotaline  (EXP)
N-acetyl-L-cysteine  (EXP)
N-nitrosodiethylamine  (ISO)
nefazodone  (ISO)
nimesulide  (ISO)
ochratoxin A  (EXP)
omacetaxine mepesuccinate  (EXP)
oxaliplatin  (ISO)
oxycodone  (ISO)
ozone  (EXP)
paracetamol  (EXP,ISO)
PCB138  (ISO)
phenethyl caffeate  (ISO)
phenethyl isothiocyanate  (EXP)
pirinixic acid  (ISO)
prochloraz  (ISO)
procymidone  (ISO)
progesterone  (EXP)
rac-lactic acid  (EXP)
resveratrol  (EXP)
retinyl acetate  (ISO)
sarin  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP,ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
trichostatin A  (ISO)
trovafloxacin  (ISO)
tungsten  (ISO)
uranium atom  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
activation of protein kinase B activity  (ISO)
animal organ morphogenesis  (IEP)
apoptotic process  (IEA,TAS)
atrial septum morphogenesis  (IMP)
atrioventricular node development  (NAS)
axon guidance  (IBA)
BMP signaling pathway  (IEA,ISO)
bone remodeling  (IMP)
brain development  (ISO)
cell differentiation  (IEA)
cell fate determination  (TAS)
cell population proliferation  (IEA,ISO)
cellular response to tumor cell  (IDA,IEA)
cholangiocyte proliferation  (IEA,ISO)
ciliary body morphogenesis  (IEA,ISO)
defense response to bacterium  (IEA,ISO)
determination of left/right symmetry  (IEA,ISO)
embryonic limb morphogenesis  (IEA,ISO)
glomerular capillary formation  (IEA)
heart looping  (IEA)
hemopoiesis  (TAS)
hepatocyte proliferation  (IEA,ISO)
humoral immune response  (IEA,ISO)
in utero embryonic development  (IEA,ISO)
inflammatory response to antigenic stimulus  (IEA,ISO)
intracellular signal transduction  (IDA)
intrahepatic bile duct development  (IEA,ISO)
left/right axis specification  (IEA)
liver development  (IEA,ISO)
liver morphogenesis  (IEA,ISO)
marginal zone B cell differentiation  (IEA,ISS)
morphogenesis of an epithelial sheet  (IEA,ISO)
multicellular organism growth  (IEA,ISO)
myeloid dendritic cell differentiation  (IEA,ISO)
negative regulation of apoptotic process  (TAS)
negative regulation of gene expression  (IDA)
negative regulation of transcription by RNA polymerase II  (IEA,ISO)
nervous system development  (NAS)
Notch signaling pathway  (IBA,IDA,IEA,IMP,ISO)
placenta blood vessel development  (IEA,ISO)
placenta development  (IEA,ISO)
podocyte development  (IEA)
positive regulation of apoptotic process  (IEA,ISO)
positive regulation of BMP signaling pathway  (IEA,ISO)
positive regulation of cell population proliferation  (IEA,ISO)
positive regulation of ERK1 and ERK2 cascade  (IDA)
positive regulation of keratinocyte proliferation  (IDA)
positive regulation of miRNA transcription  (IMP)
positive regulation of osteoclast differentiation  (IEA)
positive regulation of Ras protein signal transduction  (IDA)
positive regulation of smooth muscle cell differentiation  (IDA)
positive regulation of transcription by RNA polymerase II  (IDA)
proximal tubule development  (IEA)
pulmonary valve morphogenesis  (IMP)
regulation of developmental process  (IEA)
regulation of DNA-templated transcription  (IEA)
regulation of osteoclast development  (IMP)
regulation of transcription by RNA polymerase II  (IEA,ISO)
tissue regeneration  (ISO)
wound healing  (IEA)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Notch signaling pathway  (EXP,IEA,TAS)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cardiovascular system morphology  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal fingernail morphology  (IAGP)
Abnormal mandible morphology  (IAGP)
Abnormal skull morphology  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the voice  (IAGP)
Absent frontal sinuses  (IAGP)
Anteverted nares  (IAGP)
Aortic valve stenosis  (IAGP)
Arthralgia  (IAGP)
Atrial septal defect  (IAGP)
Autosomal dominant inheritance  (IAGP)
Basilar impression  (IAGP)
Biconcave vertebral bodies  (IAGP)
Bone pain  (IAGP)
Bowing of the long bones  (IAGP)
Brachydactyly  (IAGP)
Broad forehead  (IAGP)
Cataract  (IAGP)
Cervical instability  (IAGP)
Chiari malformation  (IAGP)
Cholestasis  (IAGP)
Cholestatic liver disease  (IAGP)
Cleft palate  (IAGP)
Coarse facial features  (IAGP)
Coarse hair  (IAGP)
Coarse metaphyseal trabecularization  (IAGP)
Conductive hearing impairment  (IAGP)
Crowded carpal bones  (IAGP)
Cryptorchidism  (IAGP)
Decreased skull ossification  (IAGP)
Delayed puberty  (IAGP)
Dental malocclusion  (IAGP)
Dislocated radial head  (IAGP)
Dolichocephaly  (IAGP)
Downslanted palpebral fissures  (IAGP)
Downturned corners of mouth  (IAGP)
Dry skin  (IAGP)
Elongated sella turcica  (IAGP)
Epicanthus  (IAGP)
Failure to thrive  (IAGP)
Fibular bowing  (IAGP)
Foot acroosteolysis  (IAGP)
Full cheeks  (IAGP)
Generalized hirsutism  (IAGP)
Genu valgum  (IAGP)
Global developmental delay  (IAGP)
Headache  (IAGP)
Hearing impairment  (IAGP)
Hematuria  (IAGP)
Hepatomegaly  (IAGP)
Hernia  (IAGP)
High palate  (IAGP)
Hirsutism  (IAGP)
Hydrocephalus  (IAGP)
Hypertelorism  (IAGP)
Hypertension  (IAGP)
Hypoplasia of the zygomatic bone  (IAGP)
Hypoplastic 5th lumbar vertebrae  (IAGP)
Hypospadias  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Intestinal malrotation  (IAGP)
Iris coloboma  (IAGP)
Joint hypermobility  (IAGP)
Keratoacanthoma  (IAGP)
Kyphoscoliosis  (IAGP)
Kyphosis  (IAGP)
Large earlobe  (IAGP)
Long eyelashes  (IAGP)
Long nose  (IAGP)
Long philtrum  (IAGP)
Low anterior hairline  (IAGP)
Low-set ears  (IAGP)
Macrocephaly  (IAGP)
Malar flattening  (IAGP)
Micrognathia  (IAGP)
Mitral stenosis  (IAGP)
Multiple renal cysts  (IAGP)
Myopia  (IAGP)
Narrow mouth  (IAGP)
Open bite  (IAGP)
Osteolysis  (IAGP)
Osteolytic defects of the phalanges of the hand  (IAGP)
Osteopenia  (IAGP)
Osteoporosis  (IAGP)
Partial absence of toe  (IAGP)
Patellar dislocation  (IAGP)
Patent ductus arteriosus  (IAGP)
Pathologic fracture  (IAGP)
Pectus carinatum  (IAGP)
Periodontitis  (IAGP)
Peripheral neuropathy  (IAGP)
Peripheral pulmonary artery stenosis  (IAGP)
Platybasia  (IAGP)
Pointed chin  (IAGP)
Polycystic kidney dysplasia  (IAGP)
Posterior embryotoxon  (IAGP)
Premature loss of teeth  (IAGP)
Premature ovarian insufficiency  (IAGP)
Prominent occiput  (IAGP)
Proteinuria  (IAGP)
Pulmonic stenosis  (IAGP)
Recurrent fractures  (IAGP)
Recurrent respiratory infections  (IAGP)
Renal cyst  (IAGP)
Renal hypoplasia  (IAGP)
Renal insufficiency  (IAGP)
Renal tubular acidosis  (IAGP)
Scoliosis  (IAGP)
Short distal phalanx of finger  (IAGP)
Short nail  (IAGP)
Short neck  (IAGP)
Short stature  (IAGP)
Short toe  (IAGP)
Skeletal dysplasia  (IAGP)
Skin ulcer  (IAGP)
Splenomegaly  (IAGP)
Synophrys  (IAGP)
Syringomyelia  (IAGP)
Tall lumbar vertebral bodies  (IAGP)
Telecanthus  (IAGP)
Tetralogy of Fallot  (IAGP)
Thick eyebrow  (IAGP)
Thickened skin  (IAGP)
Thin vermilion border  (IAGP)
Triangular face  (IAGP)
Umbilical hernia  (IAGP)
Ventricular septal defect  (IAGP)
Vertebral compression fracture  (IAGP)
Wide nasal bridge  (IAGP)
Wide nose  (IAGP)
Wormian bones  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Cell and molecular biology of Notch. Fiuza UM and Arias AM, J Endocrinol. 2007 Sep;194(3):459-74.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Jagged1-induced Notch signaling drives proliferation of multiple myeloma cells. Jundt F, etal., Blood. 2004 May 1;103(9):3511-5. Epub 2004 Jan 15.
4. NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. McDaniell R, etal., Am J Hum Genet. 2006 Jul;79(1):169-73. Epub 2006 May 10.
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
7. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
11. Coordinate Notch3-hairy-related transcription factor pathway regulation in response to arterial injury. Mediator role of platelet-derived growth factor and ERK. Wang W, etal., J Biol Chem 2002 Jun 28;277(26):23165-71.
12. Notch2: a second mammalian Notch gene. Weinmaster G, etal., Development 1992 Dec;116(4):931-41.
Additional References at PubMed
PMID:1303260   PMID:7698746   PMID:8661110   PMID:9032325   PMID:9244302   PMID:9528802   PMID:9720489   PMID:10079256   PMID:10221902   PMID:10551863   PMID:10958687   PMID:11101851  
PMID:11306509   PMID:11346656   PMID:11518718   PMID:11532344   PMID:11577080   PMID:11823422   PMID:11836628   PMID:11978185   PMID:12370315   PMID:12477932   PMID:12531696   PMID:12760378  
PMID:12794074   PMID:12931033   PMID:14567914   PMID:14609630   PMID:14702039   PMID:15231748   PMID:15302935   PMID:15492845   PMID:15507668   PMID:15565166   PMID:15621797   PMID:15976178  
PMID:16289162   PMID:16344560   PMID:16751776   PMID:16899352   PMID:17081983   PMID:17401372   PMID:17573339   PMID:17593975   PMID:17652726   PMID:17675579   PMID:17920003   PMID:18087195  
PMID:18184405   PMID:18239137   PMID:18266235   PMID:18311147   PMID:18372903   PMID:18469519   PMID:18508802   PMID:18567820   PMID:18591388   PMID:18654987   PMID:18703315   PMID:18714373  
PMID:19020323   PMID:19020324   PMID:19054571   PMID:19119320   PMID:19139842   PMID:19147558   PMID:19247373   PMID:19276344   PMID:19324937   PMID:19330030   PMID:19339697   PMID:19404845  
PMID:19445024   PMID:19453261   PMID:19502414   PMID:19503073   PMID:19602701   PMID:19603167   PMID:19653042   PMID:19670153   PMID:19701457   PMID:19720844   PMID:19741467   PMID:19794065  
PMID:19833888   PMID:19862325   PMID:19913121   PMID:19933996   PMID:19946888   PMID:20011512   PMID:20069356   PMID:20075150   PMID:20203524   PMID:20301450   PMID:20351182   PMID:20379614  
PMID:20482849   PMID:20571754   PMID:20628086   PMID:20643108   PMID:20712903   PMID:20816152   PMID:20829885   PMID:20879858   PMID:20889853   PMID:21124806   PMID:21238798   PMID:21378985  
PMID:21378989   PMID:21437251   PMID:21443520   PMID:21466361   PMID:21471519   PMID:21639801   PMID:21653829   PMID:21681853   PMID:21726900   PMID:21793104   PMID:21873635   PMID:21976141  
PMID:22006338   PMID:22161246   PMID:22190591   PMID:22209762   PMID:22526456   PMID:22695918   PMID:22717580   PMID:22810586   PMID:22891273   PMID:22891276   PMID:22915591   PMID:22939629  
PMID:22970250   PMID:23011796   PMID:23022380   PMID:23243020   PMID:23326131   PMID:23331119   PMID:23380742   PMID:23382219   PMID:23389697   PMID:23401378   PMID:23414517   PMID:23444212  
PMID:23536545   PMID:23549787   PMID:23587900   PMID:23589286   PMID:23752887   PMID:23965337   PMID:23967108   PMID:23999936   PMID:24122995   PMID:24151014   PMID:24255178   PMID:24336671  
PMID:24337577   PMID:24489102   PMID:24574459   PMID:24671051   PMID:24995648   PMID:25038880   PMID:25041344   PMID:25141821   PMID:25257302   PMID:25311243   PMID:25314575   PMID:25323114  
PMID:25323858   PMID:25338527   PMID:25368376   PMID:25381127   PMID:25381598   PMID:25397403   PMID:25468996   PMID:25491639   PMID:25544563   PMID:25558064   PMID:25574842   PMID:25609649  
PMID:25640309   PMID:25659500   PMID:25676721   PMID:25696021   PMID:25849484   PMID:25918160   PMID:25957400   PMID:25985737   PMID:25992613   PMID:26018735   PMID:26041881   PMID:26041884  
PMID:26165719   PMID:26186194   PMID:26252838   PMID:26344197   PMID:26427670   PMID:26496610   PMID:26638075   PMID:26640406   PMID:26769750   PMID:26786210   PMID:26933171   PMID:26972000  
PMID:26983574   PMID:27073072   PMID:27118257   PMID:27158037   PMID:27221981   PMID:27234298   PMID:27335277   PMID:27460529   PMID:27502039   PMID:27564686   PMID:27566587   PMID:27697639  
PMID:27717083   PMID:27800305   PMID:27832663   PMID:27966788   PMID:28061457   PMID:28084316   PMID:28161537   PMID:28167435   PMID:28298427   PMID:28380382   PMID:28389242   PMID:28514442  
PMID:28522570   PMID:28572448   PMID:28592489   PMID:28611215   PMID:28666642   PMID:28685749   PMID:28688656   PMID:28705113   PMID:28733035   PMID:28796347   PMID:28820917   PMID:28849037  
PMID:28851699   PMID:28923203   PMID:29075789   PMID:29149593   PMID:29180619   PMID:29229388   PMID:29329397   PMID:29395067   PMID:29507755   PMID:29509190   PMID:29568061   PMID:29581534  
PMID:29626590   PMID:29643502   PMID:29702280   PMID:29767458   PMID:29856954   PMID:29875313   PMID:29915190   PMID:30194290   PMID:30226866   PMID:30242258   PMID:30296524   PMID:30304577  
PMID:30404578   PMID:30463901   PMID:30470250   PMID:30497876   PMID:30523789   PMID:30580840   PMID:30639242   PMID:31024071   PMID:31177093   PMID:31239543   PMID:31285543   PMID:31316119  
PMID:31343788   PMID:31413119   PMID:31433517   PMID:31586073   PMID:31659254   PMID:31678930   PMID:31699119   PMID:31732153   PMID:31753913   PMID:31854042   PMID:31871319   PMID:32062451  
PMID:32077168   PMID:32293074   PMID:32294039   PMID:32330268   PMID:32400230   PMID:32460013   PMID:32516806   PMID:32614325   PMID:32705191   PMID:32707033   PMID:32715474   PMID:32770090  
PMID:32772338   PMID:32788342   PMID:32852534   PMID:32908313   PMID:32931575   PMID:32954300   PMID:32993109   PMID:33351914   PMID:33382997   PMID:33441309   PMID:33460397   PMID:33529444  
PMID:33545068   PMID:33694237   PMID:33729478   PMID:33839417   PMID:33845483   PMID:33957083   PMID:33961511   PMID:33961781   PMID:33972506   PMID:34079125   PMID:34219868   PMID:34224316  
PMID:34257585   PMID:34296965   PMID:34349018   PMID:34369648   PMID:34432599   PMID:34480930   PMID:34597346   PMID:34638806   PMID:34709727   PMID:34958806   PMID:35198878   PMID:35337019  
PMID:35379056   PMID:35384009   PMID:35384245   PMID:35563538   PMID:35567760   PMID:35654790   PMID:35696571   PMID:35699595   PMID:35748872   PMID:35844135   PMID:36041634   PMID:36114006  
PMID:36207023   PMID:36237976   PMID:36535266   PMID:36574342   PMID:36610398   PMID:36762613   PMID:36823368   PMID:36931259   PMID:36976175   PMID:37087577   PMID:37131242   PMID:37232246  
PMID:37235754   PMID:37314216   PMID:37499664   PMID:37931956   PMID:37943661   PMID:38117590   PMID:38277288   PMID:38462037   PMID:38569033   PMID:38577711   PMID:38891874   PMID:38973459  
PMID:39121977   PMID:39202394  


Genomics

Comparative Map Data
NOTCH2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381119,911,553 - 120,069,662 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1119,911,553 - 120,100,779 (-)EnsemblGRCh38hg38GRCh38
GRCh371120,454,176 - 120,612,276 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361120,255,699 - 120,413,799 (-)NCBINCBI36Build 36hg18NCBI36
Build 341120,166,219 - 120,324,318NCBI
Celera1118,684,898 - 118,760,431 (-)NCBICelera
Cytogenetic Map1p12NCBI
HuRef1118,312,713 - 118,398,477 (-)NCBIHuRef
CHM1_11120,569,670 - 120,727,793 (-)NCBICHM1_1
T2T-CHM13v2.01119,924,810 - 120,082,923 (-)NCBIT2T-CHM13v2.0
Notch2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39397,920,854 - 98,057,683 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl397,920,843 - 98,057,677 (+)EnsemblGRCm39 Ensembl
GRCm38398,013,538 - 98,150,367 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl398,013,527 - 98,150,361 (+)EnsemblGRCm38mm10GRCm38
MGSCv37397,817,461 - 97,954,290 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36398,098,943 - 98,232,854 (+)NCBIMGSCv36mm8
Celera399,412,506 - 99,549,473 (+)NCBICelera
Cytogenetic Map3F2.2NCBI
cM Map342.42NCBI
Notch2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82188,299,336 - 188,432,823 (+)NCBIGRCr8
mRatBN7.22185,610,594 - 185,744,088 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2185,610,589 - 185,744,088 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2193,258,974 - 193,392,488 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02191,067,260 - 191,200,638 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02185,891,558 - 186,025,066 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02200,187,184 - 200,320,403 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2200,187,179 - 200,320,215 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02207,597,473 - 207,599,560 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.02219,662,511 - 219,793,306 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42192,839,350 - 192,986,589 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera2178,101,416 - 178,234,556 (+)NCBICelera
Cytogenetic Map2q34NCBI
Notch2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555681,660,731 - 1,809,173 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555681,660,357 - 1,812,285 (+)NCBIChiLan1.0ChiLan1.0
NOTCH2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21112,490,679 - 112,716,322 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11112,158,059 - 112,315,530 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0182,457,829 - 82,615,142 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11117,537,162 - 117,612,840 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1117,538,243 - 117,612,840 (+)Ensemblpanpan1.1panPan2
NOTCH2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11756,854,825 - 57,020,157 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1756,860,429 - 57,020,857 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1756,476,088 - 56,659,161 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01757,717,260 - 57,900,443 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1757,739,989 - 57,996,124 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11756,764,520 - 56,924,479 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01756,800,478 - 56,960,572 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01757,426,245 - 57,608,931 (-)NCBIUU_Cfam_GSD_1.0
LOC101965998
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244050582,620,590 - 2,684,163 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936872390,852 - 536,321 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936872454,273 - 539,544 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NOTCH2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4100,981,636 - 101,150,195 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14100,951,522 - 101,152,348 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24110,927,023 - 110,985,673 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NOTCH2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12013,712,140 - 13,871,777 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2013,712,292 - 13,871,784 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603816,342,675 - 16,501,918 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Notch2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477215,571,998 - 15,726,426 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477215,572,350 - 15,726,312 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NOTCH2
1427 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_024408.4(NOTCH2):c.5345del (p.Asp1782fs) deletion Hajdu-Cheney syndrome [RCV000549641] Chr1:119920363 [GRCh38]
Chr1:120462986 [GRCh37]
Chr1:1p12		 pathogenic
NM_024408.4(NOTCH2):c.6997G>C (p.Ala2333Pro) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002497114]|Hajdu-Cheney syndrome [RCV000527149]|not specified [RCV000592565] Chr1:119915725 [GRCh38]
Chr1:120458348 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.3980A>G (p.Asp1327Gly) single nucleotide variant Hajdu-Cheney syndrome [RCV000532049]|not provided [RCV001573312]|not specified [RCV000121722] Chr1:119926524 [GRCh38]
Chr1:120469147 [GRCh37]
Chr1:1p12		 benign|likely benign|not provided
NM_024408.4(NOTCH2):c.3995G>A (p.Arg1332His) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002498575]|Hajdu-Cheney syndrome [RCV001854666]|NOTCH2-related disorder [RCV003398734]|not specified [RCV000121723] Chr1:119926509 [GRCh38]
Chr1:120469132 [GRCh37]
Chr1:1p12		 uncertain significance|not provided
NM_024408.4(NOTCH2):c.4114C>T (p.Arg1372Trp) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002492436]|Hajdu-Cheney syndrome [RCV001039672]|not provided [RCV003133141]|not specified [RCV000121724] Chr1:119925702 [GRCh38]
Chr1:120468325 [GRCh37]
Chr1:1p12		 uncertain significance|not provided
NM_024408.4(NOTCH2):c.4238T>A (p.Leu1413His) single nucleotide variant Hajdu-Cheney syndrome [RCV001083816]|NOTCH2-related disorder [RCV003925203]|not provided [RCV000514264]|not specified [RCV000121725] Chr1:119925578 [GRCh38]
Chr1:120468201 [GRCh37]
Chr1:1p12		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_024408.4(NOTCH2):c.4820G>A (p.Arg1607His) single nucleotide variant Hajdu-Cheney syndrome [RCV003522927]|not specified [RCV000121726] Chr1:119923676 [GRCh38]
Chr1:120466299 [GRCh37]
Chr1:1p12		 uncertain significance|not provided
NM_024408.4(NOTCH2):c.4999G>A (p.Val1667Ile) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002505068]|Hajdu-Cheney syndrome [RCV000537316]|not provided [RCV001530142]|not specified [RCV000121727] Chr1:119922639 [GRCh38]
Chr1:120465262 [GRCh37]
Chr1:1p12		 benign|likely benign|not provided
NM_024408.4(NOTCH2):c.5065A>T (p.Ile1689Phe) single nucleotide variant Hajdu-Cheney syndrome [RCV000638608]|NOTCH2-related disorder [RCV003915215]|not provided [RCV001788037]|not specified [RCV000121728] Chr1:119922384 [GRCh38]
Chr1:120465007 [GRCh37]
Chr1:1p12		 benign|likely benign|not provided
NM_024408.4(NOTCH2):c.5161G>A (p.Ala1721Thr) single nucleotide variant Hajdu-Cheney syndrome [RCV001497958]|NOTCH2-related disorder [RCV003905162]|not provided [RCV000728639]|not specified [RCV000121729] Chr1:119922288 [GRCh38]
Chr1:120464911 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance|not provided
NM_024408.4(NOTCH2):c.5314G>A (p.Glu1772Lys) single nucleotide variant not provided [RCV000726383]|not specified [RCV000121730] Chr1:119920394 [GRCh38]
Chr1:120463017 [GRCh37]
Chr1:1p12		 uncertain significance|not provided
NM_024408.4(NOTCH2):c.6974A>G (p.Gln2325Arg) single nucleotide variant not specified [RCV000121731] Chr1:119915748 [GRCh38]
Chr1:120458371 [GRCh37]
Chr1:1p12		 not provided
NM_024408.4(NOTCH2):c.6979A>G (p.Thr2327Ala) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002483225]|Hajdu-Cheney syndrome [RCV002517602]|NOTCH2-related disorder [RCV004739418]|not provided [RCV000729463]|not specified [RCV000121732] Chr1:119915743 [GRCh38]
Chr1:120458366 [GRCh37]
Chr1:1p12		 benign|likely benign|uncertain significance|not provided
NM_024408.4(NOTCH2):c.7075C>G (p.Pro2359Ala) single nucleotide variant Hajdu-Cheney syndrome [RCV000638607]|not provided [RCV001529891]|not specified [RCV000121733] Chr1:119915647 [GRCh38]
Chr1:120458270 [GRCh37]
Chr1:1p12		 benign|likely benign|not provided
NM_024408.4(NOTCH2):c.7190C>G (p.Ala2397Gly) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002505069]|Hajdu-Cheney syndrome [RCV001854667]|not specified [RCV000121734] Chr1:119915532 [GRCh38]
Chr1:120458155 [GRCh37]
Chr1:1p12		 uncertain significance|not provided
NM_024408.4(NOTCH2):c.6223G>A (p.Val2075Met) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002505070]|Hajdu-Cheney syndrome [RCV001084396]|NOTCH2-related disorder [RCV003925204]|not provided [RCV000513808]|not specified [RCV000121735] Chr1:119916499 [GRCh38]
Chr1:120459122 [GRCh37]
Chr1:1p12		 benign|likely benign|not provided
NM_024408.4(NOTCH2):c.7209T>A (p.Ser2403Arg) single nucleotide variant not specified [RCV000121736] Chr1:119915513 [GRCh38]
Chr1:120458136 [GRCh37]
Chr1:1p12		 not provided
NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002498576]|Hajdu-Cheney syndrome [RCV000540032]|Hirschsprung disease, susceptibility to, 1 [RCV000508681]|NOTCH2-related disorder [RCV003975084]|See cases [RCV002251991]|not provided [RCV001711395]|not specified [RCV000121737] Chr1:119915499 [GRCh38]
Chr1:120458122 [GRCh37]
Chr1:1p12		 benign|likely benign|uncertain significance|not provided
NM_024408.4(NOTCH2):c.1117T>C (p.Cys373Arg) single nucleotide variant Alagille syndrome 2 [RCV000034159] Chr1:119968224 [GRCh38]
Chr1:120510847 [GRCh37]
Chr1:1p12		 pathogenic
NM_024408.4(NOTCH2):c.1147C>T (p.Pro383Ser) single nucleotide variant Alagille syndrome 2 [RCV000034160] Chr1:119968194 [GRCh38]
Chr1:120510817 [GRCh37]
Chr1:1p12		 pathogenic
NM_024408.4(NOTCH2):c.1180C>T (p.Pro394Ser) single nucleotide variant Alagille syndrome 2 [RCV000034161] Chr1:119968161 [GRCh38]
Chr1:120510784 [GRCh37]
Chr1:1p12		 pathogenic
NM_024408.4(NOTCH2):c.1438T>C (p.Cys480Arg) single nucleotide variant Alagille syndrome 2 [RCV000034162] Chr1:119967448 [GRCh38]
Chr1:120510071 [GRCh37]
Chr1:1p12		 pathogenic
NM_024408.4(NOTCH2):c.2564_2565AG[1] (p.Ser856fs) microsatellite Alagille syndrome 2 [RCV000034163] Chr1:119949039..119949040 [GRCh38]
Chr1:120491662..120491663 [GRCh37]
Chr1:1p12		 pathogenic
NM_024408.4(NOTCH2):c.5857C>T (p.Arg1953Cys) single nucleotide variant not provided [RCV000593915] Chr1:119918478 [GRCh38]
Chr1:120461101 [GRCh37]
Chr1:1p12		 pathogenic|uncertain significance
NM_024408.4(NOTCH2):c.5858G>A (p.Arg1953His) single nucleotide variant not provided [RCV000728566] Chr1:119918477 [GRCh38]
Chr1:120461100 [GRCh37]
Chr1:1p12		 pathogenic|uncertain significance
NM_024408.4(NOTCH2):c.6007C>T (p.Arg2003Ter) single nucleotide variant not provided [RCV000364519] Chr1:119917685 [GRCh38]
Chr1:120460308 [GRCh37]
Chr1:1p12		 pathogenic
NM_024408.4(NOTCH2):c.6272del (p.Phe2091fs) deletion Hajdu-Cheney syndrome [RCV000022957] Chr1:119916450 [GRCh38]
Chr1:120459073 [GRCh37]
Chr1:1p12		 pathogenic
NOTCH2, 1-BP DEL, 6460T deletion Hajdu-Cheney syndrome [RCV000022958] Chr1:1p13-p11 pathogenic
NM_024408.4(NOTCH2):c.6622C>T (p.Gln2208Ter) single nucleotide variant Hajdu-Cheney syndrome [RCV000022959] Chr1:119916100 [GRCh38]
Chr1:120458723 [GRCh37]
Chr1:1p12		 pathogenic
NM_024408.4(NOTCH2):c.7119T>G (p.Tyr2373Ter) single nucleotide variant Hajdu-Cheney syndrome [RCV000022960] Chr1:119915603 [GRCh38]
Chr1:120458226 [GRCh37]
Chr1:1p12		 pathogenic
NM_024408.4(NOTCH2):c.6949C>T (p.Gln2317Ter) single nucleotide variant Hajdu-Cheney syndrome [RCV000022961] Chr1:119915773 [GRCh38]
Chr1:120458396 [GRCh37]
Chr1:1p12		 pathogenic
NM_024408.4(NOTCH2):c.6895G>T (p.Glu2299Ter) single nucleotide variant Hajdu-Cheney syndrome [RCV000022962] Chr1:119915827 [GRCh38]
Chr1:120458450 [GRCh37]
Chr1:1p12		 pathogenic
NM_024408.4(NOTCH2):c.7165C>T (p.Gln2389Ter) single nucleotide variant Hajdu-Cheney syndrome [RCV000022963] Chr1:119915557 [GRCh38]
Chr1:120458180 [GRCh37]
Chr1:1p12		 pathogenic
NM_024408.4(NOTCH2):c.1331G>A (p.Cys444Tyr) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV000009811] Chr1:119967555 [GRCh38]
Chr1:120510178 [GRCh37]
Chr1:1p12		 pathogenic
NM_024408.4(NOTCH2):c.6042G>C (p.Leu2014=) single nucleotide variant Hajdu-Cheney syndrome [RCV002067099]|not provided [RCV000729791] Chr1:119916680 [GRCh38]
Chr1:120459303 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.7338G>A (p.Gly2446=) single nucleotide variant Hajdu-Cheney syndrome [RCV002060985]|not provided [RCV000729930] Chr1:119915384 [GRCh38]
Chr1:120458007 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.6908C>A (p.Pro2303His) single nucleotide variant Hajdu-Cheney syndrome [RCV001963822] Chr1:119915814 [GRCh38]
Chr1:120458437 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.5664dup (p.Arg1889fs) duplication Hajdu-Cheney syndrome [RCV002535062]|not provided [RCV000728263] Chr1:119919428..119919429 [GRCh38]
Chr1:120462051..120462052 [GRCh37]
Chr1:1p12		 pathogenic
NM_024408.4(NOTCH2):c.4973C>T (p.Thr1658Ile) single nucleotide variant Hajdu-Cheney syndrome [RCV001234445]|Inborn genetic diseases [RCV004639340]|NOTCH2-related disorder [RCV003980361]|not provided [RCV000728271] Chr1:119922665 [GRCh38]
Chr1:120465288 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.7391ACA[2] (p.Asn2466del) microsatellite not provided [RCV000722525] Chr1:119915323..119915325 [GRCh38]
Chr1:120457946..120457948 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.5782-10C>T single nucleotide variant Hajdu-Cheney syndrome [RCV003633538]|not provided [RCV000729466] Chr1:119918563 [GRCh38]
Chr1:120461186 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.3014G>A (p.Gly1005Glu) single nucleotide variant Hajdu-Cheney syndrome [RCV001862148]|not provided [RCV000728449] Chr1:119940724 [GRCh38]
Chr1:120483347 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6139C>G (p.Arg2047Gly) single nucleotide variant Hajdu-Cheney syndrome [RCV001868932]|not provided [RCV000728453] Chr1:119916583 [GRCh38]
Chr1:120459206 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.4169A>G (p.His1390Arg) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002499346]|Hajdu-Cheney syndrome [RCV002536420]|Inborn genetic diseases [RCV002535099]|NOTCH2-related disorder [RCV003918192]|not provided [RCV000728978] Chr1:119925647 [GRCh38]
Chr1:120468270 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.760G>T (p.Gly254Trp) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002477686]|Hajdu-Cheney syndrome [RCV002535091]|Inborn genetic diseases [RCV004026953]|NOTCH2-related disorder [RCV004740432]|not provided [RCV000728755] Chr1:119987074 [GRCh38]
Chr1:120529697 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6853C>T (p.Gln2285Ter) single nucleotide variant Hajdu-Cheney syndrome [RCV000656524] Chr1:119915869 [GRCh38]
Chr1:120458492 [GRCh37]
Chr1:1p12		 pathogenic|likely pathogenic
NM_024408.4(NOTCH2):c.1856A>G (p.Asp619Gly) single nucleotide variant not provided [RCV000729175] Chr1:119963633 [GRCh38]
Chr1:120506256 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.3198C>G (p.Leu1066=) single nucleotide variant not provided [RCV000729397] Chr1:119937996 [GRCh38]
Chr1:120480619 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.3479A>G (p.His1160Arg) single nucleotide variant Hajdu-Cheney syndrome [RCV000530990]|not provided [RCV001529492]|not specified [RCV001702502] Chr1:119937325 [GRCh38]
Chr1:120479948 [GRCh37]
Chr1:1p12		 likely pathogenic|benign|likely benign
NM_024408.4(NOTCH2):c.6449_6450del (p.Pro2150fs) deletion Hajdu-Cheney syndrome [RCV000551029] Chr1:119916272..119916273 [GRCh38]
Chr1:120458895..120458896 [GRCh37]
Chr1:1p12		 pathogenic
NM_024408.4(NOTCH2):c.5930-1G>A single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV000009810] Chr1:119917763 [GRCh38]
Chr1:120460386 [GRCh37]
Chr1:1p12		 pathogenic
GRCh38/hg38 1p13.1-12(chr1:116059621-120130051)x3 copy number gain See cases [RCV000051831] Chr1:116059621..120130051 [GRCh38]
Chr1:116602242..120672637 [GRCh37]
Chr1:116403765..120474160 [NCBI36]
Chr1:1p13.1-12		 pathogenic
NM_024408.3(NOTCH2):c.6165C>T (p.His2055=) single nucleotide variant Malignant melanoma [RCV000064052] Chr1:119916557 [GRCh38]
Chr1:120459180 [GRCh37]
Chr1:120260703 [NCBI36]
Chr1:1p12		 not provided
NM_024408.4(NOTCH2):c.6003C>T (p.Ala2001=) single nucleotide variant Hajdu-Cheney syndrome [RCV003634504] Chr1:119917689 [GRCh38]
Chr1:120460312 [GRCh37]
Chr1:120261835 [NCBI36]
Chr1:1p12		 likely benign|not provided
NM_024408.3(NOTCH2):c.2525G>A (p.Cys842Tyr) single nucleotide variant Malignant melanoma [RCV000064054] Chr1:119949081 [GRCh38]
Chr1:120491704 [GRCh37]
Chr1:120293227 [NCBI36]
Chr1:1p12		 not provided
NM_024408.3(NOTCH2):c.4534C>T (p.His1512Tyr) single nucleotide variant Malignant melanoma [RCV000059853] Chr1:119923962 [GRCh38]
Chr1:120466585 [GRCh37]
Chr1:120268108 [NCBI36]
Chr1:1p12		 not provided
NM_024408.3(NOTCH2):c.4533C>T (p.Asp1511=) single nucleotide variant Malignant melanoma [RCV000059854] Chr1:119923963 [GRCh38]
Chr1:120466586 [GRCh37]
Chr1:120268109 [NCBI36]
Chr1:1p12		 not provided
NM_024408.4(NOTCH2):c.4305G>A (p.Arg1435=) single nucleotide variant Hajdu-Cheney syndrome [RCV000537922]|not provided [RCV001711974]|not specified [RCV000176590] Chr1:119925511 [GRCh38]
Chr1:120468134 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.15C>G (p.Arg5=) single nucleotide variant not provided [RCV000173523]|not specified [RCV001818409] Chr1:120069392 [GRCh38]
Chr1:120612006 [GRCh37]
Chr1:1p12		 benign|uncertain significance
GRCh38/hg38 1p12(chr1:120014117-120092791)x3 copy number gain See cases [RCV000134189] Chr1:120014117..120092791 [GRCh38]
Chr1:120556740..120635392 [GRCh37]
Chr1:120358263..120436915 [NCBI36]
Chr1:1p12		 benign
GRCh38/hg38 1p12(chr1:120026791-120092791)x3 copy number gain See cases [RCV000135009] Chr1:120026791..120092791 [GRCh38]
Chr1:120569414..120635392 [GRCh37]
Chr1:120370937..120436915 [NCBI36]
Chr1:1p12		 benign
GRCh38/hg38 1p12(chr1:119816901-119977655)x3 copy number gain See cases [RCV000136664] Chr1:119816901..119977655 [GRCh38]
Chr1:120359524..120471049 [GRCh37]
Chr1:120161047..120321801 [NCBI36]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.7G>T (p.Ala3Ser) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV001731435]|not provided [RCV001640305]|not specified [RCV000202905] Chr1:120069400 [GRCh38]
Chr1:120612014 [GRCh37]
Chr1:1p12		 benign|likely benign
GRCh38/hg38 1p12(chr1:118752239-119977596)x3 copy number gain See cases [RCV000140044] Chr1:118752239..119977596 [GRCh38]
Chr1:119294862..120520219 [GRCh37]
Chr1:119096385..120321742 [NCBI36]
Chr1:1p12		 likely benign
GRCh38/hg38 1p12(chr1:119989302-120090834)x1 copy number loss See cases [RCV000141908] Chr1:119989302..120090834 [GRCh38]
Chr1:120531925..120633435 [GRCh37]
Chr1:120333448..120434958 [NCBI36]
Chr1:1p12		 uncertain significance
GRCh38/hg38 1p12(chr1:119772887-120006962)x3 copy number gain See cases [RCV000141830] Chr1:119772887..120006962 [GRCh38]
Chr1:120315510..120549585 [GRCh37]
Chr1:120117033..120351108 [NCBI36]
Chr1:1p12		 uncertain significance
GRCh38/hg38 1p12(chr1:120007131-120090834)x1 copy number loss See cases [RCV000141639] Chr1:120007131..120090834 [GRCh38]
Chr1:120549754..120633435 [GRCh37]
Chr1:120351277..120434958 [NCBI36]
Chr1:1p12		 uncertain significance
GRCh38/hg38 1p12(chr1:119999434-120090834)x3 copy number gain See cases [RCV000142057] Chr1:119999434..120090834 [GRCh38]
Chr1:120542057..120633435 [GRCh37]
Chr1:120343580..120434958 [NCBI36]
Chr1:1p12		 uncertain significance
GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3 copy number gain See cases [RCV000142953] Chr1:104325484..119977655 [GRCh38]
Chr1:104868106..120471049 [GRCh37]
Chr1:104669629..120321801 [NCBI36]
Chr1:1p21.1-12		 pathogenic
GRCh38/hg38 1p12(chr1:119780904-119977655)x3 copy number gain See cases [RCV000142879] Chr1:119780904..119977655 [GRCh38]
Chr1:120323527..120471049 [GRCh37]
Chr1:120125050..120321801 [NCBI36]
Chr1:1p12		 uncertain significance
GRCh38/hg38 1p12(chr1:118933857-119977655)x1 copy number loss See cases [RCV000143206] Chr1:118933857..119977655 [GRCh38]
Chr1:119476480..120471049 [GRCh37]
Chr1:119278003..120321801 [NCBI36]
Chr1:1p12		 uncertain significance
GRCh38/hg38 1p12(chr1:120007131-120068631)x1 copy number loss See cases [RCV000143541] Chr1:120007131..120068631 [GRCh38]
Chr1:120549754..120611245 [GRCh37]
Chr1:120351277..120412768 [NCBI36]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.17_18del (p.Pro6fs) deletion not specified [RCV000202675] Chr1:120069389..120069390 [GRCh38]
Chr1:120612003..120612004 [GRCh37]
Chr1:1p12		 benign|likely benign
NM_024408.4(NOTCH2):c.3046G>A (p.Gly1016Ser) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002492746]|Hajdu-Cheney syndrome [RCV002516678]|NOTCH2-related disorder [RCV004739557]|not provided [RCV000175481] Chr1:119940692 [GRCh38]
Chr1:120483315 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.2042T>A (p.Ile681Asn) single nucleotide variant Hajdu-Cheney syndrome [RCV002055372]|not provided [RCV001723687]|not specified [RCV000121711] Chr1:119955217 [GRCh38]
Chr1:120497840 [GRCh37]
Chr1:1p12		 benign|not provided
NM_024408.4(NOTCH2):c.1517A>G (p.Asn506Ser) single nucleotide variant Hajdu-Cheney syndrome [RCV003522926]|not specified [RCV000121719] Chr1:119966426 [GRCh38]
Chr1:120509049 [GRCh37]
Chr1:1p12		 uncertain significance|not provided
NM_024408.4(NOTCH2):c.2479+225A>G single nucleotide variant not specified [RCV000119869] Chr1:119950499 [GRCh38]
Chr1:120493122 [GRCh37]
Chr1:1p12		 not provided
NM_024408.4(NOTCH2):c.2479+149C>G single nucleotide variant not specified [RCV000119870] Chr1:119950575 [GRCh38]
Chr1:120493198 [GRCh37]
Chr1:1p12		 not provided
NM_024408.4(NOTCH2):c.2479+34G>A single nucleotide variant not provided [RCV001640102]|not specified [RCV000119871] Chr1:119950690 [GRCh38]
Chr1:120493313 [GRCh37]
Chr1:1p12		 benign|not provided
NM_024408.4(NOTCH2):c.2573C>G (p.Thr858Ser) single nucleotide variant Inborn genetic diseases [RCV004019692]|not specified [RCV000121712] Chr1:119949033 [GRCh38]
Chr1:120491656 [GRCh37]
Chr1:1p12		 uncertain significance|not provided
NM_024408.4(NOTCH2):c.2585C>T (p.Ala862Val) single nucleotide variant Hajdu-Cheney syndrome [RCV001089399]|not provided [RCV000514670]|not specified [RCV000121713] Chr1:119949021 [GRCh38]
Chr1:120491644 [GRCh37]
Chr1:1p12		 benign|likely benign|not provided
NM_024408.4(NOTCH2):c.3143G>A (p.Arg1048His) single nucleotide variant Hajdu-Cheney syndrome [RCV001042288]|NOTCH2-related disorder [RCV003915214]|not specified [RCV000121714] Chr1:119940595 [GRCh38]
Chr1:120483218 [GRCh37]
Chr1:1p12		 uncertain significance|not provided
NM_024408.4(NOTCH2):c.3206G>A (p.Arg1069Gln) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV000764962]|Hajdu-Cheney syndrome [RCV002515888]|NOTCH2-related disorder [RCV003892113]|not provided [RCV000725834]|not specified [RCV000121715] Chr1:119937988 [GRCh38]
Chr1:120480611 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance|not provided
NM_024408.4(NOTCH2):c.3388G>A (p.Gly1130Ser) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002505067]|Hajdu-Cheney syndrome [RCV002514648]|not provided [RCV000731430]|not specified [RCV000121716] Chr1:119937416 [GRCh38]
Chr1:120480039 [GRCh37]
Chr1:1p12		 uncertain significance|not provided
NM_024408.4(NOTCH2):c.3625T>G (p.Phe1209Val) single nucleotide variant Hajdu-Cheney syndrome [RCV001084397]|not provided [RCV000514929]|not specified [RCV000121717] Chr1:119935502 [GRCh38]
Chr1:120478125 [GRCh37]
Chr1:1p12		 benign|likely benign|not provided
NM_024408.4(NOTCH2):c.1396C>A (p.Gln466Lys) single nucleotide variant Hajdu-Cheney syndrome [RCV000870735]|not provided [RCV001711394]|not specified [RCV000121718] Chr1:119967490 [GRCh38]
Chr1:120510113 [GRCh37]
Chr1:1p12		 benign|likely benign|not provided
NM_024408.4(NOTCH2):c.3779G>A (p.Arg1260His) single nucleotide variant Hajdu-Cheney syndrome [RCV000560426]|not provided [RCV003221810]|not specified [RCV000121721] Chr1:119929089 [GRCh38]
Chr1:120471712 [GRCh37]
Chr1:1p12		 benign|not provided
NM_024408.4(NOTCH2):c.3657C>A (p.Gly1219=) single nucleotide variant not provided [RCV000176425] Chr1:119929211 [GRCh38]
Chr1:120471834 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.4041A>G (p.Gly1347=) single nucleotide variant Hajdu-Cheney syndrome [RCV002054080]|not provided [RCV000176589] Chr1:119925775 [GRCh38]
Chr1:120468398 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.4740G>A (p.Lys1580=) single nucleotide variant Hajdu-Cheney syndrome [RCV000638610]|NOTCH2-related disorder [RCV003955050]|not provided [RCV000176689] Chr1:119923756 [GRCh38]
Chr1:120466379 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.5871G>A (p.Glu1957=) single nucleotide variant Hajdu-Cheney syndrome [RCV001236924]|not provided [RCV000177659] Chr1:119918464 [GRCh38]
Chr1:120461087 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.6056G>A (p.Arg2019Gln) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002485161]|Hajdu-Cheney syndrome [RCV001852200]|not provided [RCV000177810] Chr1:119916666 [GRCh38]
Chr1:120459289 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.7413G>A (p.Ala2471=) single nucleotide variant Hajdu-Cheney syndrome [RCV002516755]|NOTCH2-related disorder [RCV003947508]|not provided [RCV000177811] Chr1:119915309 [GRCh38]
Chr1:120457932 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.6956C>T (p.Ala2319Val) single nucleotide variant Hajdu-Cheney syndrome [RCV000638606]|NOTCH2-related disorder [RCV003407655]|not provided [RCV000177812] Chr1:119915766 [GRCh38]
Chr1:120458389 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6766C>T (p.Arg2256Cys) single nucleotide variant Hajdu-Cheney syndrome [RCV002054103]|NOTCH2-related disorder [RCV003947509]|not provided [RCV000177813] Chr1:119915956 [GRCh38]
Chr1:120458579 [GRCh37]
Chr1:1p12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024408.4(NOTCH2):c.6997G>A (p.Ala2333Thr) single nucleotide variant not provided [RCV000177814] Chr1:119915725 [GRCh38]
Chr1:120458348 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.3700C>T (p.His1234Tyr) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002477317]|not provided [RCV000732104]|not specified [RCV000121720] Chr1:119929168 [GRCh38]
Chr1:120471791 [GRCh37]
Chr1:1p12		 uncertain significance|not provided
NM_024408.4(NOTCH2):c.6909dup (p.Ile2304fs) duplication Hajdu-Cheney syndrome [RCV000638604]|Monoclonal B-Cell Lymphocytosis [RCV000208622] Chr1:119915812..119915813 [GRCh38]
Chr1:120458435..120458436 [GRCh37]
Chr1:1p12		 pathogenic|likely pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12		 likely benign
NM_024408.4(NOTCH2):c.4178G>A (p.Arg1393His) single nucleotide variant NOTCH2-related disorder [RCV003409725]|not provided [RCV000513966] Chr1:119925638 [GRCh38]
Chr1:120468261 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.7174T>C (p.Tyr2392His) single nucleotide variant not provided [RCV000595845] Chr1:119915548 [GRCh38]
Chr1:120458171 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.1313G>A (p.Gly438Asp) single nucleotide variant not provided [RCV000518945] Chr1:119967573 [GRCh38]
Chr1:120510196 [GRCh37]
Chr1:1p12		 likely pathogenic
NM_024408.4(NOTCH2):c.6806G>T (p.Gly2269Val) single nucleotide variant not provided [RCV004719090] Chr1:119915916 [GRCh38]
Chr1:120458539 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6079A>G (p.Lys2027Glu) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002477363]|Inborn genetic diseases [RCV000622919] Chr1:119916643 [GRCh38]
Chr1:120459266 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.7356G>C (p.Gln2452His) single nucleotide variant not provided [RCV000595857] Chr1:119915366 [GRCh38]
Chr1:120457989 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.2599+12G>C single nucleotide variant Hajdu-Cheney syndrome [RCV002058329]|not provided [RCV001589273]|not specified [RCV000249731] Chr1:119948995 [GRCh38]
Chr1:120491618 [GRCh37]
Chr1:1p12		 benign|likely benign
NM_024408.4(NOTCH2):c.4014C>T (p.Ser1338=) single nucleotide variant Hajdu-Cheney syndrome [RCV000544956]|not provided [RCV001683113]|not specified [RCV000251044] Chr1:119925802 [GRCh38]
Chr1:120468425 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.7341T>A (p.Gly2447=) single nucleotide variant Hajdu-Cheney syndrome [RCV001514563]|not provided [RCV001711834]|not specified [RCV000251156] Chr1:119915381 [GRCh38]
Chr1:120458004 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.3117G>A (p.Thr1039=) single nucleotide variant Hajdu-Cheney syndrome [RCV000553515]|not provided [RCV001545192]|not specified [RCV000253284] Chr1:119940621 [GRCh38]
Chr1:120483244 [GRCh37]
Chr1:1p12		 benign|likely benign
NM_024408.4(NOTCH2):c.2196A>C (p.Gly732=) single nucleotide variant Hajdu-Cheney syndrome [RCV002058328]|not provided [RCV000726704]|not specified [RCV000244994] Chr1:119955063 [GRCh38]
Chr1:120497686 [GRCh37]
Chr1:1p12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024408.4(NOTCH2):c.3234C>T (p.Cys1078=) single nucleotide variant Hajdu-Cheney syndrome [RCV000541946]|not provided [RCV001538471]|not specified [RCV000245089] Chr1:119937960 [GRCh38]
Chr1:120480583 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.6421C>T (p.Leu2141=) single nucleotide variant Hajdu-Cheney syndrome [RCV000534145]|not provided [RCV001528999]|not specified [RCV000248037] Chr1:119916301 [GRCh38]
Chr1:120458924 [GRCh37]
Chr1:1p12		 benign|likely benign
NM_024408.4(NOTCH2):c.5329C>T (p.Leu1777Phe) single nucleotide variant not provided [RCV000303669] Chr1:119920379 [GRCh38]
Chr1:120463002 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.4394A>G (p.Asn1465Ser) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002480040]|not provided [RCV000372816] Chr1:119925422 [GRCh38]
Chr1:120468045 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6477G>A (p.Thr2159=) single nucleotide variant Hajdu-Cheney syndrome [RCV002059244]|NOTCH2-related disorder [RCV003940057]|not provided [RCV000374286] Chr1:119916245 [GRCh38]
Chr1:120458868 [GRCh37]
Chr1:1p12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024408.4(NOTCH2):c.1287T>C (p.His429=) single nucleotide variant Hajdu-Cheney syndrome [RCV002519136]|not provided [RCV000305517] Chr1:119967599 [GRCh38]
Chr1:120510222 [GRCh37]
Chr1:1p12		 benign|uncertain significance
NM_024408.4(NOTCH2):c.6921C>T (p.Phe2307=) single nucleotide variant not provided [RCV000339501] Chr1:119915801 [GRCh38]
Chr1:120458424 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.3305A>G (p.Asn1102Ser) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002487221]|Hajdu-Cheney syndrome [RCV002519162]|not provided [RCV000273954] Chr1:119937889 [GRCh38]
Chr1:120480512 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.7263T>A (p.Ser2421=) single nucleotide variant Hajdu-Cheney syndrome [RCV003105853]|NOTCH2-related disorder [RCV003957512]|not provided [RCV000342906] Chr1:119915459 [GRCh38]
Chr1:120458082 [GRCh37]
Chr1:1p12		 benign|likely benign|uncertain significance
NM_024408.4(NOTCH2):c.423G>A (p.Glu141=) single nucleotide variant not provided [RCV000378187] Chr1:119997325 [GRCh38]
Chr1:120539948 [GRCh37]
Chr1:1p12		 conflicting interpretations of pathogenicity|uncertain significance
NM_024408.4(NOTCH2):c.6362A>G (p.Lys2121Arg) single nucleotide variant Hajdu-Cheney syndrome [RCV002059111]|Inborn genetic diseases [RCV002519113]|not provided [RCV000276229] Chr1:119916360 [GRCh38]
Chr1:120458983 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.1541A>G (p.Asn514Ser) single nucleotide variant Hajdu-Cheney syndrome [RCV002521906]|NOTCH2-related disorder [RCV003909952]|not provided [RCV001651308]|not specified [RCV000344195] Chr1:119966402 [GRCh38]
Chr1:120509025 [GRCh37]
Chr1:1p12		 benign|likely benign
NM_024408.4(NOTCH2):c.1681+9C>A single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002502102]|Hajdu-Cheney syndrome [RCV002059112]|not specified [RCV000380805] Chr1:119965444 [GRCh38]
Chr1:120508067 [GRCh37]
Chr1:1p12		 benign|likely benign
NM_024408.4(NOTCH2):c.2474A>G (p.Tyr825Cys) single nucleotide variant not provided [RCV000283077] Chr1:119950729 [GRCh38]
Chr1:120493352 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.4699C>T (p.Arg1567Trp) single nucleotide variant Hajdu-Cheney syndrome [RCV001859725]|not provided [RCV000279286] Chr1:119923797 [GRCh38]
Chr1:120466420 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6052G>T (p.Ala2018Ser) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002494888]|not provided [RCV000314023] Chr1:119916670 [GRCh38]
Chr1:120459293 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.5214-10A>G single nucleotide variant Hajdu-Cheney syndrome [RCV002522040]|not provided [RCV000349512] Chr1:119921819 [GRCh38]
Chr1:120464442 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.7042T>C (p.Leu2348=) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002502154]|Hajdu-Cheney syndrome [RCV001521752]|not provided [RCV001668624]|not specified [RCV000349702] Chr1:119915680 [GRCh38]
Chr1:120458303 [GRCh37]
Chr1:1p12		 benign|likely benign
NM_024408.4(NOTCH2):c.4938A>G (p.Ala1646=) single nucleotide variant Hajdu-Cheney syndrome [RCV002059099]|not provided [RCV000384147] Chr1:119922700 [GRCh38]
Chr1:120465323 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.6479A>G (p.Tyr2160Cys) single nucleotide variant Hajdu-Cheney syndrome [RCV002059213]|not provided [RCV004714633]|not specified [RCV000385522] Chr1:119916243 [GRCh38]
Chr1:120458866 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.4005+9C>T single nucleotide variant not provided [RCV000315710] Chr1:119926490 [GRCh38]
Chr1:120469113 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6251T>A (p.Ile2084Asn) single nucleotide variant Hajdu-Cheney syndrome [RCV000809615]|not provided [RCV000350996] Chr1:119916471 [GRCh38]
Chr1:120459094 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.5153G>A (p.Arg1718His) single nucleotide variant Hajdu-Cheney syndrome [RCV002518831]|not provided [RCV000351663] Chr1:119922296 [GRCh38]
Chr1:120464919 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.5977A>G (p.Thr1993Ala) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002487236]|not provided [RCV000388266] Chr1:119917715 [GRCh38]
Chr1:120460338 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.3519C>T (p.Cys1173=) single nucleotide variant Hajdu-Cheney syndrome [RCV000543606]|not provided [RCV001675770]|not specified [RCV000318375] Chr1:119937285 [GRCh38]
Chr1:120479908 [GRCh37]
Chr1:1p12		 benign|likely benign
NM_024408.4(NOTCH2):c.6094C>A (p.His2032Asn) single nucleotide variant Hajdu-Cheney syndrome [RCV000526120]|NOTCH2-related disorder [RCV003920111]|not provided [RCV001529982]|not specified [RCV000318452] Chr1:119916628 [GRCh38]
Chr1:120459251 [GRCh37]
Chr1:1p12		 benign|likely benign
NM_024408.4(NOTCH2):c.6028-4G>A single nucleotide variant Hajdu-Cheney syndrome [RCV003633495]|NOTCH2-related disorder [RCV003977798]|not provided [RCV000318641] Chr1:119916698 [GRCh38]
Chr1:120459321 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.1554C>T (p.Cys518=) single nucleotide variant Hajdu-Cheney syndrome [RCV002059260]|not provided [RCV000350930] Chr1:119966389 [GRCh38]
Chr1:120509012 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.6703A>G (p.Ser2235Gly) single nucleotide variant not provided [RCV000352731] Chr1:119916019 [GRCh38]
Chr1:120458642 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6999G>A (p.Ala2333=) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002502157]|Hajdu-Cheney syndrome [RCV002518153]|not provided [RCV000353065] Chr1:119915723 [GRCh38]
Chr1:120458346 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.4142G>A (p.Ser1381Asn) single nucleotide variant Hajdu-Cheney syndrome [RCV003633497]|Inborn genetic diseases [RCV002519341]|not provided [RCV000354092] Chr1:119925674 [GRCh38]
Chr1:120468297 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6159C>T (p.Arg2053=) single nucleotide variant Hajdu-Cheney syndrome [RCV002059131]|not provided [RCV000285960] Chr1:119916563 [GRCh38]
Chr1:120459186 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.6464A>C (p.Glu2155Ala) single nucleotide variant not provided [RCV000355305] Chr1:119916258 [GRCh38]
Chr1:120458881 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.3759G>A (p.Leu1253=) single nucleotide variant Hajdu-Cheney syndrome [RCV002519137]|not provided [RCV000289223] Chr1:119929109 [GRCh38]
Chr1:120471732 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.6496T>C (p.Ser2166Pro) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV004725140]|not provided [RCV000357190] Chr1:119916226 [GRCh38]
Chr1:120458849 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.6659C>G (p.Ser2220Ter) single nucleotide variant not provided [RCV000376281] Chr1:119916063 [GRCh38]
Chr1:120458686 [GRCh37]
Chr1:1p12		 pathogenic
NM_024408.4(NOTCH2):c.5413C>T (p.Leu1805=) single nucleotide variant not provided [RCV000324260] Chr1:119920295 [GRCh38]
Chr1:120462918 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.4312G>A (p.Val1438Ile) single nucleotide variant Hajdu-Cheney syndrome [RCV001514294]|NOTCH2-related disorder [RCV003897634]|not provided [RCV000359132] Chr1:119925504 [GRCh38]
Chr1:120468127 [GRCh37]
Chr1:1p12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024408.4(NOTCH2):c.5781+10A>C single nucleotide variant Hajdu-Cheney syndrome [RCV003522955]|NOTCH2-related disorder [RCV003967785]|not provided [RCV000259633] Chr1:119919302 [GRCh38]
Chr1:120461925 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.4122C>T (p.Cys1374=) single nucleotide variant Hajdu-Cheney syndrome [RCV001509626]|NOTCH2-related disorder [RCV003940054]|not provided [RCV001683164]|not specified [RCV000292371] Chr1:119925694 [GRCh38]
Chr1:120468317 [GRCh37]
Chr1:1p12		 benign|likely benign
NM_024408.4(NOTCH2):c.6787C>T (p.Gln2263Ter) single nucleotide variant Hajdu-Cheney syndrome [RCV003633494]|not provided [RCV000396824] Chr1:119915935 [GRCh38]
Chr1:120458558 [GRCh37]
Chr1:1p12		 pathogenic
NM_024408.4(NOTCH2):c.6837T>A (p.His2279Gln) single nucleotide variant not provided [RCV000327859] Chr1:119915885 [GRCh38]
Chr1:120458508 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.3205C>A (p.Arg1069=) single nucleotide variant Hajdu-Cheney syndrome [RCV000529648]|not provided [RCV000328151] Chr1:119937989 [GRCh38]
Chr1:120480612 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.4999G>T (p.Val1667Phe) single nucleotide variant Hajdu-Cheney syndrome [RCV002059235]|not provided [RCV001610785]|not specified [RCV000364935] Chr1:119922639 [GRCh38]
Chr1:120465262 [GRCh37]
Chr1:1p12		 benign|likely benign|uncertain significance
NM_024408.4(NOTCH2):c.4311C>T (p.Gly1437=) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002502137]|Hajdu-Cheney syndrome [RCV000546017]|not provided [RCV001589321]|not specified [RCV000264402] Chr1:119925505 [GRCh38]
Chr1:120468128 [GRCh37]
Chr1:1p12		 benign|likely benign
NM_024408.4(NOTCH2):c.4130G>T (p.Gly1377Val) single nucleotide variant not provided [RCV000263367] Chr1:119925686 [GRCh38]
Chr1:120468309 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.358A>C (p.Thr120Pro) single nucleotide variant not provided [RCV000297627] Chr1:120005386 [GRCh38]
Chr1:120548009 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.4244C>T (p.Thr1415Met) single nucleotide variant Hajdu-Cheney syndrome [RCV001855203]|NOTCH2-related disorder [RCV003897631]|not provided [RCV000300338] Chr1:119925572 [GRCh38]
Chr1:120468195 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.956A>G (p.Asn319Ser) single nucleotide variant Hajdu-Cheney syndrome [RCV000552666]|NOTCH2-related disorder [RCV003949938]|not provided [RCV000368673] Chr1:119969663 [GRCh38]
Chr1:120512286 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.6118G>A (p.Asp2040Asn) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002487267]|Hajdu-Cheney syndrome [RCV000699611]|not provided [RCV000404224] Chr1:119916604 [GRCh38]
Chr1:120459227 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.5218C>A (p.Leu1740Ile) single nucleotide variant Hajdu-Cheney syndrome [RCV000691348]|not provided [RCV000404846] Chr1:119921805 [GRCh38]
Chr1:120464428 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.6893G>A (p.Arg2298Gln) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV000764961]|Hajdu-Cheney syndrome [RCV002061146]|NOTCH2-related disorder [RCV003422203]|not provided [RCV000405161] Chr1:119915829 [GRCh38]
Chr1:120458452 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.4897G>A (p.Val1633Ile) single nucleotide variant Hajdu-Cheney syndrome [RCV000556572]|NOTCH2-related disorder [RCV003897609]|not provided [RCV001753744]|not specified [RCV000268720] Chr1:119922741 [GRCh38]
Chr1:120465364 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.6363G>C (p.Lys2121Asn) single nucleotide variant Hajdu-Cheney syndrome [RCV001859732]|NOTCH2-related disorder [RCV003957526]|not provided [RCV000301106]|not specified [RCV001820842] Chr1:119916359 [GRCh38]
Chr1:120458982 [GRCh37]
Chr1:1p12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024408.4(NOTCH2):c.875-9C>G single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002476332]|Hajdu-Cheney syndrome [RCV003633519]|not provided [RCV000597523] Chr1:119969753 [GRCh38]
Chr1:120512376 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.4991T>A (p.Val1664Glu) single nucleotide variant not provided [RCV002283049] Chr1:119922647 [GRCh38]
Chr1:120465270 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.782T>G (p.Ile261Ser) single nucleotide variant Hajdu-Cheney syndrome [RCV002533070]|not provided [RCV000722846] Chr1:119987052 [GRCh38]
Chr1:120529675 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.4928C>T (p.Thr1643Met) single nucleotide variant Hajdu-Cheney syndrome [RCV003633520]|not provided [RCV000598089] Chr1:119922710 [GRCh38]
Chr1:120465333 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.3036G>C (p.Leu1012Phe) single nucleotide variant not provided [RCV000594524] Chr1:119940702 [GRCh38]
Chr1:120483325 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.455C>T (p.Pro152Leu) single nucleotide variant Hereditary breast ovarian cancer syndrome [RCV001374532] Chr1:119997293 [GRCh38]
Chr1:120539916 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.2388T>A (p.Ile796=) single nucleotide variant Hajdu-Cheney syndrome [RCV002532453]|NOTCH2-related disorder [RCV003900321]|not provided [RCV000594782] Chr1:119950815 [GRCh38]
Chr1:120493438 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.6104A>G (p.Asn2035Ser) single nucleotide variant Hajdu-Cheney syndrome [RCV001867998]|not provided [RCV000594788]|not specified [RCV004689807] Chr1:119916618 [GRCh38]
Chr1:120459241 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.1132G>A (p.Ala378Thr) single nucleotide variant not provided [RCV002288052] Chr1:119968209 [GRCh38]
Chr1:120510832 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.2606G>A (p.Arg869Gln) single nucleotide variant Hajdu-Cheney syndrome [RCV001854114]|not provided [RCV000596284] Chr1:119948560 [GRCh38]
Chr1:120491183 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.3670G>A (p.Glu1224Lys) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002504014]|Hajdu-Cheney syndrome [RCV003633496]|NOTCH2-related disorder [RCV004725148]|not provided [RCV000385393] Chr1:119929198 [GRCh38]
Chr1:120471821 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6758G>A (p.Trp2253Ter) single nucleotide variant not provided [RCV000521497] Chr1:119915964 [GRCh38]
Chr1:120458587 [GRCh37]
Chr1:1p12		 pathogenic
NM_024408.4(NOTCH2):c.3246dup (p.Ala1083fs) duplication not provided [RCV000597382] Chr1:119937947..119937948 [GRCh38]
Chr1:120480570..120480571 [GRCh37]
Chr1:1p12		 pathogenic
NM_024408.4(NOTCH2):c.1861C>T (p.Arg621Cys) single nucleotide variant not provided [RCV000597617] Chr1:119963628 [GRCh38]
Chr1:120506251 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.975A>G (p.Val325=) single nucleotide variant not provided [RCV000298162] Chr1:119969644 [GRCh38]
Chr1:120512267 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6103A>C (p.Asn2035His) single nucleotide variant not provided [RCV000591699] Chr1:119916619 [GRCh38]
Chr1:120459242 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6486C>T (p.Ser2162=) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002497266]|Hajdu-Cheney syndrome [RCV002062052]|not specified [RCV000592286] Chr1:119916236 [GRCh38]
Chr1:120458859 [GRCh37]
Chr1:1p12		 benign|likely benign
NM_024408.4(NOTCH2):c.2366-9T>C single nucleotide variant Hajdu-Cheney syndrome [RCV002536439]|not provided [RCV000730120] Chr1:119950846 [GRCh38]
Chr1:120493469 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.7288C>T (p.Pro2430Ser) single nucleotide variant Hajdu-Cheney syndrome [RCV003768193]|not provided [RCV000730122] Chr1:119915434 [GRCh38]
Chr1:120458057 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.5156G>A (p.Arg1719Gln) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002497277]|Hajdu-Cheney syndrome [RCV001867976]|not provided [RCV000591946] Chr1:119922293 [GRCh38]
Chr1:120464916 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6182T>C (p.Leu2061Pro) single nucleotide variant not provided [RCV000591949] Chr1:119916540 [GRCh38]
Chr1:120459163 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.5959G>T (p.Val1987Phe) single nucleotide variant not provided [RCV000591980] Chr1:119917733 [GRCh38]
Chr1:120460356 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.1021dup (p.Asp341fs) duplication not provided [RCV000592471] Chr1:119969597..119969598 [GRCh38]
Chr1:120512220..120512221 [GRCh37]
Chr1:1p12		 pathogenic
NM_024408.4(NOTCH2):c.5274G>A (p.Trp1758Ter) single nucleotide variant not provided [RCV000592483] Chr1:119921749 [GRCh38]
Chr1:120464372 [GRCh37]
Chr1:1p12		 pathogenic
NM_024408.4(NOTCH2):c.306G>A (p.Gln102=) single nucleotide variant not provided [RCV000592692] Chr1:120005438 [GRCh38]
Chr1:120548061 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.2452A>G (p.Thr818Ala) single nucleotide variant not provided [RCV000730738] Chr1:119950751 [GRCh38]
Chr1:120493374 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.3706C>T (p.Leu1236Phe) single nucleotide variant not provided [RCV000592977] Chr1:119929162 [GRCh38]
Chr1:120471785 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.1847G>T (p.Cys616Phe) single nucleotide variant not provided [RCV000593042] Chr1:119963642 [GRCh38]
Chr1:120506265 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.2719G>A (p.Asp907Asn) single nucleotide variant not provided [RCV000730326] Chr1:119948447 [GRCh38]
Chr1:120491070 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.1017T>C (p.Ile339=) single nucleotide variant not provided [RCV000593333] Chr1:119969602 [GRCh38]
Chr1:120512225 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.1835dup (p.Tyr612Ter) duplication not provided [RCV000593425] Chr1:119963653..119963654 [GRCh38]
Chr1:120506276..120506277 [GRCh37]
Chr1:1p12		 pathogenic
NM_024408.4(NOTCH2):c.5958T>C (p.Ala1986=) single nucleotide variant Hajdu-Cheney syndrome [RCV002532406]|NOTCH2-related disorder [RCV004740350]|not provided [RCV000593446] Chr1:119917734 [GRCh38]
Chr1:120460357 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.6957G>A (p.Ala2319=) single nucleotide variant Hajdu-Cheney syndrome [RCV002065157]|NOTCH2-related disorder [RCV003927911]|not provided [RCV000593591] Chr1:119915765 [GRCh38]
Chr1:120458388 [GRCh37]
Chr1:1p12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024408.4(NOTCH2):c.5480-7C>T single nucleotide variant Hajdu-Cheney syndrome [RCV002532549]|not provided [RCV000593612] Chr1:119919620 [GRCh38]
Chr1:120462243 [GRCh37]
Chr1:1p12		 benign|uncertain significance
NM_024408.4(NOTCH2):c.5123C>T (p.Ser1708Phe) single nucleotide variant Hajdu-Cheney syndrome [RCV002065169]|not provided [RCV000593654] Chr1:119922326 [GRCh38]
Chr1:120464949 [GRCh37]
Chr1:1p12		 benign|uncertain significance
NM_024408.4(NOTCH2):c.2982-2A>G single nucleotide variant not provided [RCV000593675] Chr1:119940758 [GRCh38]
Chr1:120483381 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6027+10G>T single nucleotide variant Hajdu-Cheney syndrome [RCV001510722]|not provided [RCV000593702] Chr1:119917655 [GRCh38]
Chr1:120460278 [GRCh37]
Chr1:1p12		 benign|uncertain significance
NM_024408.4(NOTCH2):c.1567+8C>T single nucleotide variant Hajdu-Cheney syndrome [RCV001082679]|NOTCH2-related disorder [RCV003935591]|not provided [RCV000593705] Chr1:119966368 [GRCh38]
Chr1:120508991 [GRCh37]
Chr1:1p12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024408.4(NOTCH2):c.2824A>G (p.Thr942Ala) single nucleotide variant Hajdu-Cheney syndrome [RCV001860215]|not provided [RCV000593731] Chr1:119941683 [GRCh38]
Chr1:120484306 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.3235G>A (p.Val1079Ile) single nucleotide variant Hajdu-Cheney syndrome [RCV002062034]|not provided [RCV000597289] Chr1:119937959 [GRCh38]
Chr1:120480582 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.5945A>G (p.His1982Arg) single nucleotide variant Hajdu-Cheney syndrome [RCV000638602] Chr1:119917747 [GRCh38]
Chr1:120460370 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.4185T>A (p.Pro1395=) single nucleotide variant Hajdu-Cheney syndrome [RCV003633518]|not provided [RCV000591123] Chr1:119925631 [GRCh38]
Chr1:120468254 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.3154C>A (p.Pro1052Thr) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002476326]|Hajdu-Cheney syndrome [RCV002531078]|Inborn genetic diseases [RCV003258883]|not provided [RCV000597603] Chr1:119940584 [GRCh38]
Chr1:120483207 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.7224C>G (p.Leu2408=) single nucleotide variant not provided [RCV000591233] Chr1:119915498 [GRCh38]
Chr1:120458121 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6767G>A (p.Arg2256His) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002476309]|Congenital anomaly of kidney and urinary tract [RCV001254708]|Hajdu-Cheney syndrome [RCV001336625]|NOTCH2-related disorder [RCV003952975]|not provided [RCV000591307] Chr1:119915955 [GRCh38]
Chr1:120458578 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.4177C>T (p.Arg1393Cys) single nucleotide variant Hajdu-Cheney syndrome [RCV001854071]|not provided [RCV000591327] Chr1:119925639 [GRCh38]
Chr1:120468262 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.7199G>A (p.Arg2400Gln) single nucleotide variant Hajdu-Cheney syndrome [RCV002532381]|NOTCH2-related disorder [RCV003905515]|not provided [RCV000591336] Chr1:119915523 [GRCh38]
Chr1:120458146 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.2369A>G (p.Tyr790Cys) single nucleotide variant Hajdu-Cheney syndrome [RCV003767401]|not provided [RCV000591418] Chr1:119950834 [GRCh38]
Chr1:120493457 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.3789A>C (p.Gly1263=) single nucleotide variant Hajdu-Cheney syndrome [RCV002532465]|NOTCH2-related disorder [RCV003980086]|not provided [RCV000591481] Chr1:119929079 [GRCh38]
Chr1:120471702 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.3934C>T (p.Pro1312Ser) single nucleotide variant not provided [RCV000722931] Chr1:119926570 [GRCh38]
Chr1:120469193 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.965A>G (p.Tyr322Cys) single nucleotide variant not provided [RCV000729961] Chr1:119969654 [GRCh38]
Chr1:120512277 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.2055G>A (p.Glu685=) single nucleotide variant not provided [RCV000730025] Chr1:119955204 [GRCh38]
Chr1:120497827 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.390G>A (p.Glu130=) single nucleotide variant not provided [RCV000415730] Chr1:120005354 [GRCh38]
Chr1:120547977 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6152G>C (p.Arg2051Pro) single nucleotide variant not provided [RCV000730607] Chr1:119916570 [GRCh38]
Chr1:120459193 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.4945C>T (p.Leu1649Phe) single nucleotide variant not provided [RCV000730665] Chr1:119922693 [GRCh38]
Chr1:120465316 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6344G>A (p.Ser2115Asn) single nucleotide variant NOTCH2-related disorder [RCV004740437]|not provided [RCV000730675] Chr1:119916378 [GRCh38]
Chr1:120459001 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.3415dup (p.Leu1139fs) duplication not provided [RCV000730711] Chr1:119937388..119937389 [GRCh38]
Chr1:120480011..120480012 [GRCh37]
Chr1:1p12		 pathogenic
NM_024408.4(NOTCH2):c.18del (p.Ala7fs) deletion not provided [RCV000722944] Chr1:120069389 [GRCh38]
Chr1:120612003 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6562G>A (p.Ala2188Thr) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002485874]|Hajdu-Cheney syndrome [RCV001855748]|NOTCH2-related disorder [RCV003420300]|not provided [RCV000730285] Chr1:119916160 [GRCh38]
Chr1:120458783 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.4294G>A (p.Asp1432Asn) single nucleotide variant Hajdu-Cheney syndrome [RCV001868971]|not provided [RCV000732036] Chr1:119925522 [GRCh38]
Chr1:120468145 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.4992G>A (p.Val1664=) single nucleotide variant Hajdu-Cheney syndrome [RCV002067156]|NOTCH2-related disorder [RCV003892664]|not provided [RCV000733754] Chr1:119922646 [GRCh38]
Chr1:120465269 [GRCh37]
Chr1:1p12		 benign|likely benign|uncertain significance
NM_024408.4(NOTCH2):c.1041del (p.Ser346_Cys347insTer) deletion not provided [RCV000733805] Chr1:119969578 [GRCh38]
Chr1:120512201 [GRCh37]
Chr1:1p12		 likely pathogenic
NM_024408.4(NOTCH2):c.3104T>C (p.Leu1035Pro) single nucleotide variant Hajdu-Cheney syndrome [RCV003768189]|not provided [RCV000729568] Chr1:119940634 [GRCh38]
Chr1:120483257 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6685C>T (p.His2229Tyr) single nucleotide variant Hajdu-Cheney syndrome [RCV001239699]|not provided [RCV000729986] Chr1:119916037 [GRCh38]
Chr1:120458660 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.1066C>T (p.Arg356Cys) single nucleotide variant NOTCH2-related disorder [RCV004740438]|not provided [RCV000731174] Chr1:119969553 [GRCh38]
Chr1:120512176 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.7342G>T (p.Ala2448Ser) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002507295]|Hajdu-Cheney syndrome [RCV003633539]|Inborn genetic diseases [RCV003353010]|not provided [RCV000731226] Chr1:119915380 [GRCh38]
Chr1:120458003 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.2677G>A (p.Gly893Ser) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002507296]|not provided [RCV000731228]|not specified [RCV003987686] Chr1:119948489 [GRCh38]
Chr1:120491112 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.4005+1G>A single nucleotide variant not provided [RCV000731293] Chr1:119926498 [GRCh38]
Chr1:120469121 [GRCh37]
Chr1:1p12		 pathogenic
NM_024408.4(NOTCH2):c.6307T>A (p.Ser2103Thr) single nucleotide variant Hajdu-Cheney syndrome [RCV002067116]|Inborn genetic diseases [RCV004027004]|NOTCH2-related disorder [RCV003892634]|not provided [RCV000731300] Chr1:119916415 [GRCh38]
Chr1:120459038 [GRCh37]
Chr1:1p12		 benign|likely benign|uncertain significance
NM_024408.4(NOTCH2):c.1003T>C (p.Cys335Arg) single nucleotide variant not provided [RCV000732147] Chr1:119969616 [GRCh38]
Chr1:120512239 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6140G>A (p.Arg2047Gln) single nucleotide variant Hajdu-Cheney syndrome [RCV002067141]|Inborn genetic diseases [RCV004027050]|NOTCH2-related disorder [RCV004723146]|not provided [RCV000733080] Chr1:119916582 [GRCh38]
Chr1:120459205 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.2949T>C (p.His983=) single nucleotide variant Hajdu-Cheney syndrome [RCV002067143]|not provided [RCV000733109] Chr1:119941558 [GRCh38]
Chr1:120484181 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.3916G>A (p.Asp1306Asn) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002493360]|Hajdu-Cheney syndrome [RCV001855791]|not provided [RCV000733846] Chr1:119926588 [GRCh38]
Chr1:120469211 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.3069C>T (p.Leu1023=) single nucleotide variant not provided [RCV000728528] Chr1:119940669 [GRCh38]
Chr1:120483292 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.4860-3C>T single nucleotide variant Hajdu-Cheney syndrome [RCV002535078]|not provided [RCV000728547] Chr1:119922781 [GRCh38]
Chr1:120465404 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.2323C>G (p.Leu775Val) single nucleotide variant Hajdu-Cheney syndrome [RCV001855630]|not provided [RCV000730137] Chr1:119953585 [GRCh38]
Chr1:120496208 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.1543C>G (p.Arg515Gly) single nucleotide variant not provided [RCV000730218] Chr1:119966400 [GRCh38]
Chr1:120509023 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6345C>T (p.Ser2115=) single nucleotide variant not provided [RCV000731313] Chr1:119916377 [GRCh38]
Chr1:120459000 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.3702T>C (p.His1234=) single nucleotide variant Hajdu-Cheney syndrome [RCV002535084]|NOTCH2-related disorder [RCV003892607]|not provided [RCV000728693] Chr1:119929166 [GRCh38]
Chr1:120471789 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.1443G>A (p.Leu481=) single nucleotide variant Hajdu-Cheney syndrome [RCV002060991]|not specified [RCV000730316] Chr1:119967443 [GRCh38]
Chr1:120510066 [GRCh37]
Chr1:1p12		 benign|likely benign
NM_024408.4(NOTCH2):c.6481G>A (p.Val2161Ile) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002499378]|Hajdu-Cheney syndrome [RCV002536523]|not provided [RCV000734518] Chr1:119916241 [GRCh38]
Chr1:120458864 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6837T>C (p.His2279=) single nucleotide variant not provided [RCV000416183] Chr1:119915885 [GRCh38]
Chr1:120458508 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.5172C>G (p.His1724Gln) single nucleotide variant Inborn genetic diseases [RCV002535096]|not provided [RCV000728854] Chr1:119922277 [GRCh38]
Chr1:120464900 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.2102T>A (p.Val701Glu) single nucleotide variant not provided [RCV000728892] Chr1:119955157 [GRCh38]
Chr1:120497780 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.7072A>G (p.Met2358Val) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002477687]|Hajdu-Cheney syndrome [RCV003633536]|not provided [RCV000728942] Chr1:119915650 [GRCh38]
Chr1:120458273 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6673C>T (p.Leu2225=) single nucleotide variant Hajdu-Cheney syndrome [RCV003117531]|not provided [RCV000731441] Chr1:119916049 [GRCh38]
Chr1:120458672 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.5362C>G (p.Pro1788Ala) single nucleotide variant not provided [RCV000733931] Chr1:119920346 [GRCh38]
Chr1:120462969 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6270T>G (p.Ser2090=) single nucleotide variant Hajdu-Cheney syndrome [RCV002061017]|not provided [RCV000733980] Chr1:119916452 [GRCh38]
Chr1:120459075 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.1567+2T>G single nucleotide variant not provided [RCV000734587] Chr1:119966374 [GRCh38]
Chr1:120508997 [GRCh37]
Chr1:1p12		 likely pathogenic
NM_024408.4(NOTCH2):c.6516C>T (p.Ser2172=) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002493362]|Hajdu-Cheney syndrome [RCV002067170]|NOTCH2-related disorder [RCV003975291]|not specified [RCV000734632] Chr1:119916206 [GRCh38]
Chr1:120458829 [GRCh37]
Chr1:1p12		 benign|likely benign
NM_024408.4(NOTCH2):c.5732G>A (p.Arg1911His) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV001329960]|not provided [RCV000594552] Chr1:119919361 [GRCh38]
Chr1:120461984 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.2584G>T (p.Ala862Ser) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002491226]|not provided [RCV000594575] Chr1:119949022 [GRCh38]
Chr1:120491645 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.4162A>G (p.Ser1388Gly) single nucleotide variant not provided [RCV000733321] Chr1:119925654 [GRCh38]
Chr1:120468277 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6004A>G (p.Asn2002Asp) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002485928]|Hajdu-Cheney syndrome [RCV002535322]|Inborn genetic diseases [RCV004027058]|not provided [RCV000733330] Chr1:119917688 [GRCh38]
Chr1:120460311 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.5177G>A (p.Arg1726His) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV004564463]|Hajdu-Cheney syndrome [RCV001868985]|NOTCH2-related disorder [RCV003396310]|not provided [RCV000733343] Chr1:119922272 [GRCh38]
Chr1:120464895 [GRCh37]
Chr1:1p12		 likely pathogenic|uncertain significance
NM_024408.4(NOTCH2):c.3492C>T (p.Cys1164=) single nucleotide variant not provided [RCV000733998] Chr1:119937312 [GRCh38]
Chr1:120479935 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6026A>G (p.Lys2009Arg) single nucleotide variant not provided [RCV000734046] Chr1:119917666 [GRCh38]
Chr1:120460289 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6027G>A (p.Lys2009=) single nucleotide variant not provided [RCV000734088] Chr1:119917665 [GRCh38]
Chr1:120460288 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.3984T>C (p.Gly1328=) single nucleotide variant not provided [RCV000732616] Chr1:119926520 [GRCh38]
Chr1:120469143 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.3252G>A (p.Glu1084=) single nucleotide variant Hajdu-Cheney syndrome [RCV002535336]|NOTCH2-related disorder [RCV003975288]|not provided [RCV000733523] Chr1:119937942 [GRCh38]
Chr1:120480565 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.1635A>G (p.Ala545=) single nucleotide variant Hajdu-Cheney syndrome [RCV003523021]|not provided [RCV000734157] Chr1:119965499 [GRCh38]
Chr1:120508122 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.4578G>A (p.Glu1526=) single nucleotide variant not provided [RCV000734785] Chr1:119923918 [GRCh38]
Chr1:120466541 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.5310+5G>A single nucleotide variant not provided [RCV000734794] Chr1:119921708 [GRCh38]
Chr1:120464331 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6124A>G (p.Met2042Val) single nucleotide variant not provided [RCV000734818] Chr1:119916598 [GRCh38]
Chr1:120459221 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6222C>T (p.Thr2074=) single nucleotide variant Hajdu-Cheney syndrome [RCV002536528]|not provided [RCV000734851] Chr1:119916500 [GRCh38]
Chr1:120459123 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.3754T>A (p.Cys1252Ser) single nucleotide variant not provided [RCV000594737] Chr1:119929114 [GRCh38]
Chr1:120471737 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6962C>T (p.Ala2321Val) single nucleotide variant not provided [RCV000731538] Chr1:119915760 [GRCh38]
Chr1:120458383 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.4002C>G (p.Pro1334=) single nucleotide variant Hajdu-Cheney syndrome [RCV002067122]|NOTCH2-related disorder [RCV003947933]|not provided [RCV000731572] Chr1:119926502 [GRCh38]
Chr1:120469125 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.5630G>T (p.Gly1877Val) single nucleotide variant not provided [RCV000731573] Chr1:119919463 [GRCh38]
Chr1:120462086 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.815G>A (p.Gly272Glu) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002493337]|not provided [RCV000731579] Chr1:119987019 [GRCh38]
Chr1:120529642 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.2816C>T (p.Pro939Leu) single nucleotide variant Hajdu-Cheney syndrome [RCV002067136]|NOTCH2-related disorder [RCV003411679]|not provided [RCV000732627] Chr1:119941691 [GRCh38]
Chr1:120484314 [GRCh37]
Chr1:1p12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024408.4(NOTCH2):c.3556T>A (p.Tyr1186Asn) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002477716]|Hajdu-Cheney syndrome [RCV002535286]|VATER association [RCV001254707]|not provided [RCV000732629] Chr1:119935571 [GRCh38]
Chr1:120478194 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.752-12_752-10del microsatellite not provided [RCV000732720] Chr1:119987092..119987094 [GRCh38]
Chr1:120529715..120529717 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.5815G>T (p.Ala1939Ser) single nucleotide variant Hajdu-Cheney syndrome [RCV001867946]|not provided [RCV000594828] Chr1:119918520 [GRCh38]
Chr1:120461143 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.5074A>G (p.Ile1692Val) single nucleotide variant Hajdu-Cheney syndrome [RCV002067097]|NOTCH2-related disorder [RCV003953304]|not provided [RCV000729663] Chr1:119922375 [GRCh38]
Chr1:120464998 [GRCh37]
Chr1:1p12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024408.4(NOTCH2):c.2830G>T (p.Asp944Tyr) single nucleotide variant Hajdu-Cheney syndrome [RCV002060979]|Inborn genetic diseases [RCV004026976]|NOTCH2-related disorder [RCV003953305]|not provided [RCV000729664] Chr1:119941677 [GRCh38]
Chr1:120484300 [GRCh37]
Chr1:1p12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024408.4(NOTCH2):c.2578T>C (p.Leu860=) single nucleotide variant Hajdu-Cheney syndrome [RCV002060980]|not provided [RCV000729756] Chr1:119949028 [GRCh38]
Chr1:120491651 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.6924G>A (p.Gln2308=) single nucleotide variant Hajdu-Cheney syndrome [RCV002533111]|not provided [RCV001662796]|not specified [RCV000729760] Chr1:119915798 [GRCh38]
Chr1:120458421 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.1625T>G (p.Leu542Arg) single nucleotide variant not provided [RCV000731659] Chr1:119965509 [GRCh38]
Chr1:120508132 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.786T>C (p.Asp262=) single nucleotide variant Hajdu-Cheney syndrome [RCV002067125]|not provided [RCV000731775] Chr1:119987048 [GRCh38]
Chr1:120529671 [GRCh37]
Chr1:1p12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024408.4(NOTCH2):c.4512-9C>T single nucleotide variant not provided [RCV000732888] Chr1:119923993 [GRCh38]
Chr1:120466616 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.7416A>C (p.Ter2472Cys) single nucleotide variant not provided [RCV000732932] Chr1:119915306 [GRCh38]
Chr1:120457929 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.5407C>T (p.Pro1803Ser) single nucleotide variant not provided [RCV000732960] Chr1:119920301 [GRCh38]
Chr1:120462924 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6152G>A (p.Arg2051Gln) single nucleotide variant Hajdu-Cheney syndrome [RCV003522989]|NOTCH2-related disorder [RCV003420041]|not provided [RCV000595048] Chr1:119916570 [GRCh38]
Chr1:120459193 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.5843del (p.Leu1948fs) deletion not provided [RCV000729071] Chr1:119918492 [GRCh38]
Chr1:120461115 [GRCh37]
Chr1:1p12		 pathogenic
NM_024408.4(NOTCH2):c.7086C>T (p.Asp2362=) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002485902]|Hajdu-Cheney syndrome [RCV002067126]|NOTCH2-related disorder [RCV003938113]|not provided [RCV004597872]|not specified [RCV000731809] Chr1:119915636 [GRCh38]
Chr1:120458259 [GRCh37]
Chr1:1p12		 benign|likely benign
NM_024408.4(NOTCH2):c.2732A>G (p.Asp911Gly) single nucleotide variant not provided [RCV000731819] Chr1:119948434 [GRCh38]
Chr1:120491057 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.4005G>A (p.Pro1335=) single nucleotide variant Hajdu-Cheney syndrome [RCV001868999]|Inborn genetic diseases [RCV004027096]|NOTCH2-related disorder [RCV003908058]|not provided [RCV000734920] Chr1:119926499 [GRCh38]
Chr1:120469122 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.822T>G (p.Val274=) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002477692]|Hajdu-Cheney syndrome [RCV003633537]|NOTCH2-related disorder [RCV003947920]|not provided [RCV000729258] Chr1:119987012 [GRCh38]
Chr1:120529635 [GRCh37]
Chr1:1p12		 benign|likely benign|uncertain significance
NM_024408.4(NOTCH2):c.6547A>G (p.Met2183Val) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002485886]|Hajdu-Cheney syndrome [RCV001855751]|not provided [RCV000730891] Chr1:119916175 [GRCh38]
Chr1:120458798 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.5862G>A (p.Leu1954=) single nucleotide variant Hajdu-Cheney syndrome [RCV001855752]|not provided [RCV000730892] Chr1:119918473 [GRCh38]
Chr1:120461096 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.2752+8T>C single nucleotide variant Hajdu-Cheney syndrome [RCV002535245]|not provided [RCV000731930] Chr1:119948406 [GRCh38]
Chr1:120491029 [GRCh37]
Chr1:1p12		 benign|uncertain significance
NM_024408.4(NOTCH2):c.5740C>T (p.Leu1914Phe) single nucleotide variant not provided [RCV000730941] Chr1:119919353 [GRCh38]
Chr1:120461976 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.3467A>G (p.Asn1156Ser) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002485887]|Hajdu-Cheney syndrome [RCV002535184]|Inborn genetic diseases [RCV003165971]|not provided [RCV000730967] Chr1:119937337 [GRCh38]
Chr1:120479960 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.5348C>G (p.Pro1783Arg) single nucleotide variant not provided [RCV000734258] Chr1:119920360 [GRCh38]
Chr1:120462983 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6412A>G (p.Lys2138Glu) single nucleotide variant not provided [RCV000734271] Chr1:119916310 [GRCh38]
Chr1:120458933 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.1019A>G (p.Asp340Gly) single nucleotide variant not provided [RCV000734936] Chr1:119969600 [GRCh38]
Chr1:120512223 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.4733G>A (p.Arg1578His) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002485947]|Hajdu-Cheney syndrome [RCV003633541]|NOTCH2-related disorder [RCV003420316]|not provided [RCV000735015] Chr1:119923763 [GRCh38]
Chr1:120466386 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.1465G>T (p.Val489Leu) single nucleotide variant not provided [RCV000728105] Chr1:119966478 [GRCh38]
Chr1:120509101 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6985C>T (p.Pro2329Ser) single nucleotide variant Hajdu-Cheney syndrome [RCV001862138]|NOTCH2-related disorder [RCV003420285]|not provided [RCV000728188] Chr1:119915737 [GRCh38]
Chr1:120458360 [GRCh37]
Chr1:1p12		 uncertain significance
GRCh37/hg19 1p13.2-12(chr1:114507501-120494232)x3 copy number gain See cases [RCV000449311] Chr1:114507501..120494232 [GRCh37]
Chr1:1p13.2-12		 pathogenic
GRCh37/hg19 1p12-11.2(chr1:120556740-120839329)x3 copy number gain See cases [RCV000446753] Chr1:120556740..120839329 [GRCh37]
Chr1:1p12-11.2		 likely benign
NM_024408.4(NOTCH2):c.215G>A (p.Arg72His) single nucleotide variant not specified [RCV000435654] Chr1:120005529 [GRCh38]
Chr1:120548152 [GRCh37]
Chr1:1p12		 likely benign
GRCh37/hg19 1p12-11.2(chr1:120468424-121343783)x3 copy number gain See cases [RCV000510719] Chr1:120468424..121343783 [GRCh37]
Chr1:1p12-11.2		 uncertain significance
NM_024408.4(NOTCH2):c.6424_6427del (p.Ser2142fs) deletion not provided [RCV000480906] Chr1:119916295..119916298 [GRCh38]
Chr1:120458918..120458921 [GRCh37]
Chr1:1p12		 pathogenic
NM_024408.4(NOTCH2):c.4457del (p.Thr1486fs) deletion not provided [RCV000481951] Chr1:119925359 [GRCh38]
Chr1:120467982 [GRCh37]
Chr1:1p12		 pathogenic
NM_024408.4(NOTCH2):c.5518G>A (p.Gly1840Ser) single nucleotide variant not provided [RCV000483951] Chr1:119919575 [GRCh38]
Chr1:120462198 [GRCh37]
Chr1:1p12		 uncertain significance
GRCh37/hg19 1p12-11.2(chr1:120553489-120611245)x1 copy number loss See cases [RCV000510432] Chr1:120553489..120611245 [GRCh37]
Chr1:1p12-11.2		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_024408.4(NOTCH2):c.801C>A (p.His267Gln) single nucleotide variant not provided [RCV000498302] Chr1:119987033 [GRCh38]
Chr1:120529656 [GRCh37]
Chr1:1p12		 likely pathogenic
NM_024408.4(NOTCH2):c.4462G>C (p.Glu1488Gln) single nucleotide variant not provided [RCV000493990] Chr1:119925354 [GRCh38]
Chr1:120467977 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.415G>C (p.Gly139Arg) single nucleotide variant not provided [RCV000494234] Chr1:120005329 [GRCh38]
Chr1:120547952 [GRCh37]
Chr1:1p12		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_024408.4(NOTCH2):c.4244C>G (p.Thr1415Arg) single nucleotide variant Hajdu-Cheney syndrome [RCV003523153]|Inborn genetic diseases [RCV003290163] Chr1:119925572 [GRCh38]
Chr1:120468195 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.1248G>A (p.Val416=) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002506328]|Hajdu-Cheney syndrome [RCV001475046] Chr1:119968093 [GRCh38]
Chr1:120510716 [GRCh37]
Chr1:1p12		 likely benign
NM_024408.4(NOTCH2):c.4639C>G (p.Leu1547Val) single nucleotide variant Hajdu-Cheney syndrome [RCV000638603]|Inborn genetic diseases [RCV003258900]|not provided [RCV000728202] Chr1:119923857 [GRCh38]
Chr1:120466480 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.939C>T (p.Gly313=) single nucleotide variant Hajdu-Cheney syndrome [RCV000638612]|not provided [RCV001683621] Chr1:119969680 [GRCh38]
Chr1:120512303 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.3878G>A (p.Arg1293His) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002491228]|Hajdu-Cheney syndrome [RCV001035605]|NOTCH2-related disorder [RCV004740363]|not provided [RCV000594356] Chr1:119928990 [GRCh38]
Chr1:120471613 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.2027-4A>G single nucleotide variant not provided [RCV000596745] Chr1:119955236 [GRCh38]
Chr1:120497859 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.1228G>T (p.Ala410Ser) single nucleotide variant Hajdu-Cheney syndrome [RCV001867947]|not provided [RCV000597924] Chr1:119968113 [GRCh38]
Chr1:120510736 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.660C>A (p.Ser220Arg) single nucleotide variant not provided [RCV000514044] Chr1:119997088 [GRCh38]
Chr1:120539711 [GRCh37]
Chr1:1p12		 likely benign
NM_024408.4(NOTCH2):c.7198C>T (p.Arg2400Ter) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV004760646]|Hajdu-Cheney syndrome [RCV000617014]|not provided [RCV002508237] Chr1:119915524 [GRCh38]
Chr1:120458147 [GRCh37]
Chr1:1p12		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_024408.4(NOTCH2):c.6808A>G (p.Met2270Val) single nucleotide variant Hajdu-Cheney syndrome [RCV001867974]|not provided [RCV000594050] Chr1:119915914 [GRCh38]
Chr1:120458537 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.4723A>G (p.Thr1575Ala) single nucleotide variant not provided [RCV000595881] Chr1:119923773 [GRCh38]
Chr1:120466396 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.2026+6G>T single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002506410]|Hajdu-Cheney syndrome [RCV000951629]|NOTCH2-related disorder [RCV004740349]|not provided [RCV001573092]|not specified [RCV000594407] Chr1:119959386 [GRCh38]
Chr1:120502009 [GRCh37]
Chr1:1p12		 benign|likely benign
NM_024408.4(NOTCH2):c.4720C>T (p.His1574Tyr) single nucleotide variant Inborn genetic diseases [RCV003292812] Chr1:119923776 [GRCh38]
Chr1:120466399 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.3908C>G (p.Thr1303Ser) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002498870]|not provided [RCV000595027] Chr1:119926596 [GRCh38]
Chr1:120469219 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6156T>C (p.Asp2052=) single nucleotide variant NOTCH2-related disorder [RCV003973793]|not specified [RCV003317949] Chr1:119916566 [GRCh38]
Chr1:120459189 [GRCh37]
Chr1:1p12		 likely benign
NM_024408.4(NOTCH2):c.3441G>A (p.Glu1147=) single nucleotide variant Hajdu-Cheney syndrome [RCV000554538]|not provided [RCV003884609]|not specified [RCV000597377] Chr1:119937363 [GRCh38]
Chr1:120479986 [GRCh37]
Chr1:1p12		 benign|likely benign
NM_024408.4(NOTCH2):c.4886A>C (p.Asn1629Thr) single nucleotide variant Hajdu-Cheney syndrome [RCV003523154]|Inborn genetic diseases [RCV003275955] Chr1:119922752 [GRCh38]
Chr1:120465375 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.3034T>C (p.Leu1012=) single nucleotide variant Hajdu-Cheney syndrome [RCV000540599] Chr1:119940704 [GRCh38]
Chr1:120483327 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.1957C>A (p.Pro653Thr) single nucleotide variant Hajdu-Cheney syndrome [RCV000625914] Chr1:119959461 [GRCh38]
Chr1:120502084 [GRCh37]
Chr1:1p12		 pathogenic|uncertain significance
NM_024408.4(NOTCH2):c.1134A>G (p.Ala378=) single nucleotide variant Hajdu-Cheney syndrome [RCV003117364]|NOTCH2-related disorder [RCV004740353]|not provided [RCV000596158] Chr1:119968207 [GRCh38]
Chr1:120510830 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.7368G>A (p.Gly2456=) single nucleotide variant Hajdu-Cheney syndrome [RCV002532443]|not provided [RCV000596545] Chr1:119915354 [GRCh38]
Chr1:120457977 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.1315G>A (p.Ala439Thr) single nucleotide variant Hajdu-Cheney syndrome [RCV000539468]|not provided [RCV001729628]|not specified [RCV000592374] Chr1:119967571 [GRCh38]
Chr1:120510194 [GRCh37]
Chr1:1p12		 benign|likely benign
GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3 copy number gain See cases [RCV000512354] Chr1:93837992..121343783 [GRCh37]
Chr1:1p22.1-11.2		 pathogenic
NM_024408.4(NOTCH2):c.3652C>T (p.Arg1218Trp) single nucleotide variant Hajdu-Cheney syndrome [RCV000638605]|NOTCH2-related disorder [RCV003420116] Chr1:119935475 [GRCh38]
Chr1:120478098 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6338C>T (p.Pro2113Leu) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002476330]|Hajdu-Cheney syndrome [RCV003522990]|Inborn genetic diseases [RCV002532593]|not provided [RCV000594058] Chr1:119916384 [GRCh38]
Chr1:120459007 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.5103A>G (p.Lys1701=) single nucleotide variant Hajdu-Cheney syndrome [RCV002062009]|not provided [RCV000594137] Chr1:119922346 [GRCh38]
Chr1:120464969 [GRCh37]
Chr1:1p12		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024408.4(NOTCH2):c.4929G>A (p.Thr1643=) single nucleotide variant Hajdu-Cheney syndrome [RCV002062075]|NOTCH2-related disorder [RCV003952982]|not provided [RCV000594207] Chr1:119922709 [GRCh38]
Chr1:120465332 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.5834C>T (p.Thr1945Ile) single nucleotide variant not provided [RCV000595872] Chr1:119918501 [GRCh38]
Chr1:120461124 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.3520G>A (p.Glu1174Lys) single nucleotide variant Hajdu-Cheney syndrome [RCV001365448]|not provided [RCV000596022] Chr1:119937284 [GRCh38]
Chr1:120479907 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.4029G>C (p.Gln1343His) single nucleotide variant not provided [RCV000594623] Chr1:119925787 [GRCh38]
Chr1:120468410 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.1653G>A (p.Pro551=) single nucleotide variant Hajdu-Cheney syndrome [RCV002062071]|not provided [RCV000594946] Chr1:119965481 [GRCh38]
Chr1:120508104 [GRCh37]
Chr1:1p12		 benign|uncertain significance
NM_024408.4(NOTCH2):c.6859A>T (p.Arg2287Trp) single nucleotide variant not provided [RCV000596796] Chr1:119915863 [GRCh38]
Chr1:120458486 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.1245T>C (p.Asp415=) single nucleotide variant Hajdu-Cheney syndrome [RCV002065146]|not provided [RCV000597244] Chr1:119968096 [GRCh38]
Chr1:120510719 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.1804G>A (p.Ala602Thr) single nucleotide variant Hajdu-Cheney syndrome [RCV000693115]|NOTCH2-related disorder [RCV003952977]|not provided [RCV000595171] Chr1:119963685 [GRCh38]
Chr1:120506308 [GRCh37]
Chr1:1p12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024408.4(NOTCH2):c.1791C>T (p.Pro597=) single nucleotide variant Hajdu-Cheney syndrome [RCV002531066]|NOTCH2-related disorder [RCV003952981]|not provided [RCV000595469] Chr1:119963698 [GRCh38]
Chr1:120506321 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.7078C>T (p.Gln2360Ter) single nucleotide variant Hajdu-Cheney syndrome [RCV000617018] Chr1:119915644 [GRCh38]
Chr1:120458267 [GRCh37]
Chr1:1p12		 pathogenic
NM_024408.4(NOTCH2):c.1663G>A (p.Glu555Lys) single nucleotide variant not provided [RCV000658523] Chr1:119965471 [GRCh38]
Chr1:120508094 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.1677C>A (p.Ala559=) single nucleotide variant not provided [RCV000658522] Chr1:119965457 [GRCh38]
Chr1:120508080 [GRCh37]
Chr1:1p12		 likely benign
NM_024408.4(NOTCH2):c.4045G>A (p.Val1349Met) single nucleotide variant Hajdu-Cheney syndrome [RCV001231059] Chr1:119925771 [GRCh38]
Chr1:120468394 [GRCh37]
Chr1:1p12		 uncertain significance
GRCh37/hg19 1p12(chr1:120294903-120527495)x3 copy number gain not provided [RCV000684619] Chr1:120294903..120527495 [GRCh37]
Chr1:1p12		 uncertain significance
GRCh37/hg19 1p12-11.2(chr1:120524159-120611245)x1 copy number loss not provided [RCV000684621] Chr1:120524159..120611245 [GRCh37]
Chr1:1p12-11.2		 uncertain significance
GRCh37/hg19 1p12(chr1:120315510-120527495)x3 copy number gain not provided [RCV000684620] Chr1:120315510..120527495 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6503del (p.Pro2168fs) deletion Hajdu-Cheney syndrome [RCV000692450] Chr1:119916219 [GRCh38]
Chr1:120458842 [GRCh37]
Chr1:1p12		 pathogenic
NM_024408.4(NOTCH2):c.6916A>T (p.Thr2306Ser) single nucleotide variant Hajdu-Cheney syndrome [RCV000695291] Chr1:119915806 [GRCh38]
Chr1:120458429 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.1280G>A (p.Cys427Tyr) single nucleotide variant Hajdu-Cheney syndrome [RCV000705631]|not provided [RCV000735149] Chr1:119967606 [GRCh38]
Chr1:120510229 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.5431C>T (p.Gln1811Ter) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV000735810] Chr1:119920277 [GRCh38]
Chr1:120462900 [GRCh37]
Chr1:1p12		 likely pathogenic
NM_024408.4(NOTCH2):c.5482G>C (p.Gly1828Arg) single nucleotide variant not provided [RCV001572695] Chr1:119919611 [GRCh38]
Chr1:120462234 [GRCh37]
Chr1:1p12		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_024408.4(NOTCH2):c.3183+288G>A single nucleotide variant not provided [RCV001609153] Chr1:119940267 [GRCh38]
Chr1:120482890 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.5929+113T>G single nucleotide variant not provided [RCV001571064] Chr1:119918293 [GRCh38]
Chr1:120460916 [GRCh37]
Chr1:1p12		 likely benign
NM_024408.4(NOTCH2):c.853C>T (p.Arg285Cys) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV001564053]|Hajdu-Cheney syndrome [RCV002568430] Chr1:119986981 [GRCh38]
Chr1:120529604 [GRCh37]
Chr1:1p12		 uncertain significance
GRCh37/hg19 1p12-11.2(chr1:120515760-120604038)x3 copy number gain not provided [RCV000736664] Chr1:120515760..120604038 [GRCh37]
Chr1:1p12-11.2		 benign
GRCh37/hg19 1p12-11.2(chr1:120515760-121346616)x3 copy number gain not provided [RCV000736665] Chr1:120515760..121346616 [GRCh37]
Chr1:1p12-11.2		 benign
NM_024408.4(NOTCH2):c.2480-246G>T single nucleotide variant not provided [RCV001643475] Chr1:119949372 [GRCh38]
Chr1:120491995 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.3523-58A>G single nucleotide variant not provided [RCV001666985] Chr1:119935662 [GRCh38]
Chr1:120478285 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.-31G>C single nucleotide variant not provided [RCV001665705] Chr1:120069437 [GRCh38]
Chr1:120612051 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.4421A>T (p.Asp1474Val) single nucleotide variant not provided [RCV001596893] Chr1:119925395 [GRCh38]
Chr1:120468018 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.1568-335T>C single nucleotide variant not provided [RCV001534209] Chr1:119965901 [GRCh38]
Chr1:120508524 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.4860-280G>A single nucleotide variant not provided [RCV001586218] Chr1:119923058 [GRCh38]
Chr1:120465681 [GRCh37]
Chr1:1p12		 likely benign
NM_024408.4(NOTCH2):c.6027+47C>A single nucleotide variant not provided [RCV001690572] Chr1:119917618 [GRCh38]
Chr1:120460241 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.2026+303T>C single nucleotide variant not provided [RCV001679517] Chr1:119959089 [GRCh38]
Chr1:120501712 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.2480-278dup duplication not provided [RCV001567125] Chr1:119949383..119949384 [GRCh38]
Chr1:120492006..120492007 [GRCh37]
Chr1:1p12		 likely benign
NM_024408.4(NOTCH2):c.6909del (p.Ile2304fs) deletion Hajdu-Cheney syndrome [RCV000761596] Chr1:119915813 [GRCh38]
Chr1:120458436 [GRCh37]
Chr1:1p12		 pathogenic
NM_024408.4(NOTCH2):c.5731C>T (p.Arg1911Cys) single nucleotide variant Hajdu-Cheney syndrome [RCV000807205]|NOTCH2-related disorder [RCV004740444]|not provided [RCV000761678] Chr1:119919362 [GRCh38]
Chr1:120461985 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.4860-164A>G single nucleotide variant not provided [RCV003312132] Chr1:119922942 [GRCh38]
Chr1:120465565 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.4647T>G (p.Ile1549Met) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV001002778]|Hajdu-Cheney syndrome [RCV002549190] Chr1:119923849 [GRCh38]
Chr1:120466472 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.752-45T>G single nucleotide variant not provided [RCV001691923] Chr1:119987127 [GRCh38]
Chr1:120529750 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.1453+67C>G single nucleotide variant not provided [RCV001567083] Chr1:119967366 [GRCh38]
Chr1:120509989 [GRCh37]
Chr1:1p12		 likely benign
NM_024408.4(NOTCH2):c.74-215C>T single nucleotide variant not provided [RCV001575599] Chr1:120030202 [GRCh38]
Chr1:120572825 [GRCh37]
Chr1:1p12		 likely benign
NM_024408.4(NOTCH2):c.2295A>G (p.Pro765=) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002489252]|Hajdu-Cheney syndrome [RCV001504608]|NOTCH2-related disorder [RCV003895696] Chr1:119953613 [GRCh38]
Chr1:120496236 [GRCh37]
Chr1:1p12		 likely benign
NM_024408.4(NOTCH2):c.5500T>C (p.Leu1834=) single nucleotide variant Hajdu-Cheney syndrome [RCV000905278] Chr1:119919593 [GRCh38]
Chr1:120462216 [GRCh37]
Chr1:1p12		 likely benign
NM_024408.4(NOTCH2):c.751+325G>T single nucleotide variant Hajdu-Cheney syndrome [RCV000986401] Chr1:119996672 [GRCh38]
Chr1:120539295 [GRCh37]
Chr1:1p12		 likely benign
NM_024408.4(NOTCH2):c.272G>T (p.Arg91Leu) single nucleotide variant Hajdu-Cheney syndrome [RCV000986402]|not provided [RCV001573081]|not specified [RCV001702759] Chr1:120005472 [GRCh38]
Chr1:120548095 [GRCh37]
Chr1:1p12		 benign|likely benign
NM_024408.4(NOTCH2):c.137A>G (p.Asn46Ser) single nucleotide variant Hajdu-Cheney syndrome [RCV000986403]|not provided [RCV004714170]|not specified [RCV001819693] Chr1:120029924 [GRCh38]
Chr1:120572547 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.85C>T (p.Arg29Ter) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV003313982]|Hajdu-Cheney syndrome [RCV000986404]|not provided [RCV001312091] Chr1:120029976 [GRCh38]
Chr1:120572599 [GRCh37]
Chr1:1p12		 likely pathogenic|uncertain significance
NM_024408.4(NOTCH2):c.57C>G (p.Cys19Trp) single nucleotide variant Hajdu-Cheney syndrome [RCV000986405]|not provided [RCV004714171]|not specified [RCV001700685] Chr1:120069350 [GRCh38]
Chr1:120611964 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.6460del (p.Ser2153_Leu2154insTer) deletion Alagille syndrome due to a NOTCH2 point mutation [RCV000786872] Chr1:119916262 [GRCh38]
Chr1:120458885 [GRCh37]
Chr1:1p12		 likely pathogenic
NM_024408.4(NOTCH2):c.3222C>T (p.Asn1074=) single nucleotide variant not provided [RCV000980823] Chr1:119937972 [GRCh38]
Chr1:120480595 [GRCh37]
Chr1:1p12		 likely benign
NM_024408.4(NOTCH2):c.5132T>C (p.Leu1711Pro) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV001029862] Chr1:119922317 [GRCh38]
Chr1:120464940 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6178C>T (p.Arg2060Cys) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV001029870]|Alagille syndrome due to a NOTCH2 point mutation [RCV002505553]|Hajdu-Cheney syndrome [RCV001862425]|NOTCH2-related disorder [RCV003411956]|not provided [RCV001573697] Chr1:119916544 [GRCh38]
Chr1:120459167 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.1915+2dup duplication Hajdu-Cheney syndrome [RCV000812550] Chr1:119963571..119963572 [GRCh38]
Chr1:120506194..120506195 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6919_6920del (p.Phe2307fs) deletion Hajdu-Cheney syndrome [RCV000788016] Chr1:119915802..119915803 [GRCh38]
Chr1:120458425..120458426 [GRCh37]
Chr1:1p12		 likely pathogenic
NM_024408.4(NOTCH2):c.4304G>A (p.Arg1435Gln) single nucleotide variant Hajdu-Cheney syndrome [RCV000823875] Chr1:119925512 [GRCh38]
Chr1:120468135 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.2945T>C (p.Val982Ala) single nucleotide variant Hajdu-Cheney syndrome [RCV000805260] Chr1:119941562 [GRCh38]
Chr1:120484185 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6160A>G (p.Met2054Val) single nucleotide variant Hajdu-Cheney syndrome [RCV000802795] Chr1:119916562 [GRCh38]
Chr1:120459185 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.4692C>G (p.Ser1564Arg) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002489484]|Hajdu-Cheney syndrome [RCV003523054]|not provided [RCV000994085] Chr1:119923804 [GRCh38]
Chr1:120466427 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.1079_1081del (p.Phe360del) deletion not provided [RCV000994087] Chr1:119969538..119969540 [GRCh38]
Chr1:120512161..120512163 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.2226G>A (p.Lys742=) single nucleotide variant not provided [RCV000976392] Chr1:119953682 [GRCh38]
Chr1:120496305 [GRCh37]
Chr1:1p12		 likely benign
NM_024408.4(NOTCH2):c.5222C>T (p.Ser1741Leu) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV000845110] Chr1:119921801 [GRCh38]
Chr1:120464424 [GRCh37]
Chr1:1p12		 pathogenic
NM_024408.4(NOTCH2):c.5644C>T (p.His1882Tyr) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV000845111] Chr1:119919449 [GRCh38]
Chr1:120462072 [GRCh37]
Chr1:1p12		 pathogenic
GRCh37/hg19 1p12(chr1:119425395-120527495)x3 copy number gain not provided [RCV000847309] Chr1:119425395..120527495 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.3913G>A (p.Val1305Ile) single nucleotide variant Hajdu-Cheney syndrome [RCV002068718]|Inborn genetic diseases [RCV003160125]|not provided [RCV000994086] Chr1:119926591 [GRCh38]
Chr1:120469214 [GRCh37]
Chr1:1p12		 likely benign
NM_024408.4(NOTCH2):c.6426_6427insTT (p.Glu2143fs) insertion Hajdu-Cheney syndrome [RCV001223255] Chr1:119916295..119916296 [GRCh38]
Chr1:120458918..120458919 [GRCh37]
Chr1:1p12		 pathogenic
NM_024408.4(NOTCH2):c.1775C>A (p.Thr592Asn) single nucleotide variant Hajdu-Cheney syndrome [RCV001218077]|not provided [RCV002305575] Chr1:119963714 [GRCh38]
Chr1:120506337 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.3406C>G (p.Gln1136Glu) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002282499]|Hajdu-Cheney syndrome [RCV001246620]|NOTCH2-related disorder [RCV004740631] Chr1:119937398 [GRCh38]
Chr1:120480021 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.4511+6G>A single nucleotide variant Hajdu-Cheney syndrome [RCV003104373] Chr1:119925299 [GRCh38]
Chr1:120467922 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.2365+216_2365+218dup duplication not provided [RCV001551594] Chr1:119953313..119953314 [GRCh38]
Chr1:120495936..120495937 [GRCh37]
Chr1:1p12		 likely benign
NM_024408.4(NOTCH2):c.4060G>T (p.Gly1354Trp) single nucleotide variant Inborn genetic diseases [RCV003292414] Chr1:119925756 [GRCh38]
Chr1:120468379 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.875-166G>C single nucleotide variant not provided [RCV001553312] Chr1:119969910 [GRCh38]
Chr1:120512533 [GRCh37]
Chr1:1p12		 likely benign
NM_024408.4(NOTCH2):c.5311-210G>A single nucleotide variant not provided [RCV001725324] Chr1:119920607 [GRCh38]
Chr1:120463230 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.5310+171G>A single nucleotide variant not provided [RCV001637794] Chr1:119921542 [GRCh38]
Chr1:120464165 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.2982-118A>G single nucleotide variant not provided [RCV001688652] Chr1:119940874 [GRCh38]
Chr1:120483497 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.2480-188dup duplication not provided [RCV001608623] Chr1:119949312..119949313 [GRCh38]
Chr1:120491935..120491936 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.5311-24G>A single nucleotide variant not provided [RCV001715984] Chr1:119920421 [GRCh38]
Chr1:120463044 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.3892+175G>A single nucleotide variant not provided [RCV001709804] Chr1:119928801 [GRCh38]
Chr1:120471424 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.2753-128C>T single nucleotide variant not provided [RCV001562267] Chr1:119941882 [GRCh38]
Chr1:120484505 [GRCh37]
Chr1:1p12		 likely benign
NM_024408.4(NOTCH2):c.2365+47T>A single nucleotide variant not provided [RCV001670247] Chr1:119953496 [GRCh38]
Chr1:120496119 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.1108+30A>G single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV001785832]|Hajdu-Cheney syndrome [RCV001785833]|not provided [RCV001696726] Chr1:119969481 [GRCh38]
Chr1:120512104 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.5930-249T>C single nucleotide variant not provided [RCV001716351] Chr1:119918011 [GRCh38]
Chr1:120460634 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.874+312C>T single nucleotide variant not provided [RCV001558348] Chr1:119986648 [GRCh38]
Chr1:120529271 [GRCh37]
Chr1:1p12		 likely benign
NM_024408.4(NOTCH2):c.2365+232C>G single nucleotide variant not provided [RCV001718402] Chr1:119953311 [GRCh38]
Chr1:120495934 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.2365+229del deletion not provided [RCV001592749] Chr1:119953314 [GRCh38]
Chr1:120495937 [GRCh37]
Chr1:1p12		 likely benign
NM_024408.4(NOTCH2):c.3075G>A (p.Glu1025=) single nucleotide variant Hajdu-Cheney syndrome [RCV001442709]|NOTCH2-related disorder [RCV003970564] Chr1:119940663 [GRCh38]
Chr1:120483286 [GRCh37]
Chr1:1p12		 likely benign
NM_024408.4(NOTCH2):c.6198T>C (p.Asn2066=) single nucleotide variant not provided [RCV000939465] Chr1:119916524 [GRCh38]
Chr1:120459147 [GRCh37]
Chr1:1p12		 likely benign
NM_024408.4(NOTCH2):c.4458G>A (p.Thr1486=) single nucleotide variant Hajdu-Cheney syndrome [RCV001479662]|NOTCH2-related disorder [RCV003936215] Chr1:119925358 [GRCh38]
Chr1:120467981 [GRCh37]
Chr1:1p12		 likely benign
NM_024408.4(NOTCH2):c.112G>A (p.Glu38Lys) single nucleotide variant not provided [RCV004714258]|not specified [RCV001528862] Chr1:120029949 [GRCh38]
Chr1:120572572 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.3752G>A (p.Arg1251His) single nucleotide variant Hajdu-Cheney syndrome [RCV002066289] Chr1:119929116 [GRCh38]
Chr1:120471739 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.7280G>C (p.Ser2427Thr) single nucleotide variant Hajdu-Cheney syndrome [RCV001222748] Chr1:119915442 [GRCh38]
Chr1:120458065 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.4778A>G (p.Tyr1593Cys) single nucleotide variant Hajdu-Cheney syndrome [RCV001071881] Chr1:119923718 [GRCh38]
Chr1:120466341 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6403_6404del (p.Leu2135fs) microsatellite Hajdu-Cheney syndrome [RCV001217248]|NOTCH2-related disorder [RCV003398954]|not provided [RCV004597971] Chr1:119916318..119916319 [GRCh38]
Chr1:120458941..120458942 [GRCh37]
Chr1:1p12		 pathogenic|likely pathogenic
NM_024408.4(NOTCH2):c.5684G>A (p.Arg1895His) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002484219]|Hajdu-Cheney syndrome [RCV001224894]|not specified [RCV003987800] Chr1:119919409 [GRCh38]
Chr1:120462032 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.2653dup (p.His885fs) duplication Hajdu-Cheney syndrome [RCV002251097] Chr1:119948512..119948513 [GRCh38]
Chr1:120491135..120491136 [GRCh37]
Chr1:1p12		 likely pathogenic
NM_024408.4(NOTCH2):c.-214C>G single nucleotide variant not provided [RCV001559759] Chr1:120069620 [GRCh38]
Chr1:120612234 [GRCh37]
Chr1:1p12		 likely benign
NM_024408.4(NOTCH2):c.4511+52C>T single nucleotide variant not provided [RCV001553210] Chr1:119925253 [GRCh38]
Chr1:119925253..119925254 [GRCh38]
Chr1:120467876 [GRCh37]
Chr1:120467876..120467877 [GRCh37]
Chr1:1p12		 likely benign
NM_024408.4(NOTCH2):c.2480-49C>T single nucleotide variant not provided [RCV001682167] Chr1:119949175 [GRCh38]
Chr1:120491798 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.3523-125A>C single nucleotide variant not provided [RCV001682254] Chr1:119935729 [GRCh38]
Chr1:120478352 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.4006-54A>G single nucleotide variant not provided [RCV001564295] Chr1:119925864 [GRCh38]
Chr1:120468487 [GRCh37]
Chr1:1p12		 likely benign
NM_024408.4(NOTCH2):c.3G>C (p.Met1Ile) single nucleotide variant not provided [RCV001656212] Chr1:120069404 [GRCh38]
Chr1:120612018 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.5310+195T>G single nucleotide variant not provided [RCV001555234] Chr1:119921518 [GRCh38]
Chr1:120464141 [GRCh37]
Chr1:1p12		 likely benign
NM_024408.4(NOTCH2):c.1108+14G>A single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002501981]|Hajdu-Cheney syndrome [RCV002072962]|not provided [RCV001636093] Chr1:119969497 [GRCh38]
Chr1:120512120 [GRCh37]
Chr1:1p12		 benign|likely benign
NM_024408.4(NOTCH2):c.5782-77G>A single nucleotide variant not provided [RCV001636449] Chr1:119918630 [GRCh38]
Chr1:120461253 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.4593dup (p.Leu1532fs) duplication Alagille syndrome due to a NOTCH2 point mutation [RCV002472109] Chr1:119923902..119923903 [GRCh38]
Chr1:120466525..120466526 [GRCh37]
Chr1:1p12		 pathogenic
NM_024408.4(NOTCH2):c.6667C>T (p.Gln2223Ter) single nucleotide variant Hajdu-Cheney syndrome [RCV002471963] Chr1:119916055 [GRCh38]
Chr1:120458678 [GRCh37]
Chr1:1p12		 pathogenic
NM_024408.4(NOTCH2):c.2600-112C>G single nucleotide variant not provided [RCV001713327] Chr1:119948678 [GRCh38]
Chr1:120491301 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.5479+46A>G single nucleotide variant not provided [RCV001717800] Chr1:119920183 [GRCh38]
Chr1:120462806 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.312A>G (p.Ser104=) single nucleotide variant not provided [RCV001528540] Chr1:120005432 [GRCh38]
Chr1:120548055 [GRCh37]
Chr1:1p12		 likely benign
NM_024408.4(NOTCH2):c.155+50A>G single nucleotide variant not provided [RCV001594093] Chr1:120029856 [GRCh38]
Chr1:120572479 [GRCh37]
Chr1:1p12		 likely benign
NM_024408.4(NOTCH2):c.-23C>A single nucleotide variant not provided [RCV001639318] Chr1:120069429 [GRCh38]
Chr1:120612043 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.2753-44C>T single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV001785838]|Hajdu-Cheney syndrome [RCV001785839]|not provided [RCV001717783] Chr1:119941798 [GRCh38]
Chr1:120484421 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.3656-22G>A single nucleotide variant not provided [RCV001675277] Chr1:119929234 [GRCh38]
Chr1:120471857 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.2027-231C>G single nucleotide variant not provided [RCV001678310] Chr1:119955463 [GRCh38]
Chr1:120498086 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.3337+86A>G single nucleotide variant not provided [RCV001598074] Chr1:119937771 [GRCh38]
Chr1:120480394 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.4005+45A>G single nucleotide variant not provided [RCV001616769] Chr1:119926454 [GRCh38]
Chr1:120469077 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.1567+196A>G single nucleotide variant not provided [RCV001678025] Chr1:119966180 [GRCh38]
Chr1:120508803 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.2026+251A>G single nucleotide variant not provided [RCV001620078] Chr1:119959141 [GRCh38]
Chr1:120501764 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.5480-232G>A single nucleotide variant not provided [RCV001715891] Chr1:119919845 [GRCh38]
Chr1:120462468 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.6028-116C>T single nucleotide variant not provided [RCV001689206] Chr1:119916810 [GRCh38]
Chr1:120459433 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.2365+216_2365+217dup duplication not provided [RCV001595147] Chr1:119953313..119953314 [GRCh38]
Chr1:120495936..120495937 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.1915+165C>T single nucleotide variant not provided [RCV001687827] Chr1:119963409 [GRCh38]
Chr1:120506032 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.2365+216dup duplication not provided [RCV001708408] Chr1:119953313..119953314 [GRCh38]
Chr1:120495936..120495937 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.3508G>T (p.Gly1170Ter) single nucleotide variant Hajdu-Cheney syndrome [RCV001533199] Chr1:119937296 [GRCh38]
Chr1:120479919 [GRCh37]
Chr1:1p12		 likely pathogenic
NM_024408.4(NOTCH2):c.4860-183T>A single nucleotide variant not provided [RCV001667109] Chr1:119922961 [GRCh38]
Chr1:120465584 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.1915+89C>T single nucleotide variant not provided [RCV001694548] Chr1:119963485 [GRCh38]
Chr1:120506108 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.415+43G>T single nucleotide variant not provided [RCV001667273] Chr1:120005286 [GRCh38]
Chr1:120547909 [GRCh37]
Chr1:1p12		 benign
NC_000001.11:g.120069858C>A single nucleotide variant not provided [RCV001691364] Chr1:120069858 [GRCh38]
Chr1:120612472 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.4859+152C>T single nucleotide variant not provided [RCV001614585] Chr1:119923485 [GRCh38]
Chr1:120466108 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.415+257T>C single nucleotide variant not provided [RCV001725323] Chr1:120005072 [GRCh38]
Chr1:120547695 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.15C>T (p.Arg5=) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV001785822]|Alagille syndrome due to a NOTCH2 point mutation [RCV002501863]|Hajdu-Cheney syndrome [RCV001785823]|not provided [RCV004714261]|not specified [RCV001529299] Chr1:120069392 [GRCh38]
Chr1:120612006 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.3183+271T>G single nucleotide variant not provided [RCV001685277] Chr1:119940284 [GRCh38]
Chr1:120482907 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.1915+201C>G single nucleotide variant not provided [RCV001685315] Chr1:119963373 [GRCh38]
Chr1:120505996 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.1567+12C>T single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002501974]|Hajdu-Cheney syndrome [RCV002072921]|not provided [RCV001612782] Chr1:119966364 [GRCh38]
Chr1:120508987 [GRCh37]
Chr1:1p12		 benign|likely benign
NM_024408.4(NOTCH2):c.1032C>T (p.Phe344=) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002476849]|Hajdu-Cheney syndrome [RCV002070385]|NOTCH2-related disorder [RCV003900783]|not provided [RCV001531635] Chr1:119969587 [GRCh38]
Chr1:120512210 [GRCh37]
Chr1:1p12		 likely benign
NM_024408.4(NOTCH2):c.4174C>T (p.Gln1392Ter) single nucleotide variant Hajdu-Cheney syndrome [RCV001048880] Chr1:119925642 [GRCh38]
Chr1:120468265 [GRCh37]
Chr1:1p12		 pathogenic
NM_024408.4(NOTCH2):c.1978A>G (p.Met660Val) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002480755]|Hajdu-Cheney syndrome [RCV001230219] Chr1:119959440 [GRCh38]
Chr1:120502063 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.5327T>C (p.Leu1776Ser) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV001197498] Chr1:119920381 [GRCh38]
Chr1:120463004 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.7090del (p.Gln2364fs) deletion Hajdu-Cheney syndrome [RCV001250418] Chr1:119915632 [GRCh38]
Chr1:120458255 [GRCh37]
Chr1:1p12		 pathogenic
NM_024408.4(NOTCH2):c.6334A>G (p.Met2112Val) single nucleotide variant Hajdu-Cheney syndrome [RCV001230085] Chr1:119916388 [GRCh38]
Chr1:120459011 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.5983_5984del (p.Leu1995fs) deletion NOTCH2-related disorder [RCV004740563]|not provided [RCV001092893] Chr1:119917708..119917709 [GRCh38]
Chr1:120460331..120460332 [GRCh37]
Chr1:1p12		 pathogenic
NM_024408.4(NOTCH2):c.3166A>G (p.Thr1056Ala) single nucleotide variant Hajdu-Cheney syndrome [RCV001202703] Chr1:119940572 [GRCh38]
Chr1:120483195 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6877del (p.His2293fs) deletion Hajdu-Cheney syndrome [RCV001253265] Chr1:119915845 [GRCh38]
Chr1:120458468 [GRCh37]
Chr1:1p12		 pathogenic
NM_024408.4(NOTCH2):c.2785G>A (p.Gly929Arg) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002476472]|Hajdu-Cheney syndrome [RCV001316334]|Inborn genetic diseases [RCV004034391]|NOTCH2-related disorder [RCV003399093] Chr1:119941722 [GRCh38]
Chr1:120484345 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.3383A>G (p.Asn1128Ser) single nucleotide variant Hajdu-Cheney syndrome [RCV001321568] Chr1:119937421 [GRCh38]
Chr1:120480044 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.5031G>T (p.Gln1677His) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV001329958]|Alagille syndrome due to a NOTCH2 point mutation [RCV002476542] Chr1:119922418 [GRCh38]
Chr1:120465041 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.3208T>C (p.Ser1070Pro) single nucleotide variant Hajdu-Cheney syndrome [RCV001329957] Chr1:119937986 [GRCh38]
Chr1:120480609 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.3209C>T (p.Ser1070Phe) single nucleotide variant Hajdu-Cheney syndrome [RCV001295142] Chr1:119937985 [GRCh38]
Chr1:120480608 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.3466A>G (p.Asn1156Asp) single nucleotide variant Hajdu-Cheney syndrome [RCV001306598] Chr1:119937338 [GRCh38]
Chr1:120479961 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.731T>C (p.Phe244Ser) single nucleotide variant not provided [RCV004598788] Chr1:119997017 [GRCh38]
Chr1:120539640 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.4741C>T (p.Arg1581Trp) single nucleotide variant Hajdu-Cheney syndrome [RCV001325460]|NOTCH2-related disorder [RCV004740666] Chr1:119923755 [GRCh38]
Chr1:120466378 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.1963A>G (p.Ile655Val) single nucleotide variant Hajdu-Cheney syndrome [RCV001315830] Chr1:119959455 [GRCh38]
Chr1:120502078 [GRCh37]
Chr1:1p12		 benign|uncertain significance
NM_024408.4(NOTCH2):c.836T>G (p.Val279Gly) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV001270720] Chr1:119986998 [GRCh38]
Chr1:120529621 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.686C>A (p.Pro229His) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV001329962]|Alagille syndrome due to a NOTCH2 point mutation [RCV002486329]|not provided [RCV003132423] Chr1:119997062 [GRCh38]
Chr1:120539685 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6586C>T (p.Gln2196Ter) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV001799543] Chr1:119916136 [GRCh38]
Chr1:120458759 [GRCh37]
Chr1:1p12		 likely pathogenic
NM_024408.4(NOTCH2):c.6313C>T (p.Arg2105Trp) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002476601]|Hajdu-Cheney syndrome [RCV001348286] Chr1:119916409 [GRCh38]
Chr1:120459032 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.3655+97G>T single nucleotide variant not provided [RCV001536289] Chr1:119935375 [GRCh38]
Chr1:120477998 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.6469C>A (p.Pro2157Thr) single nucleotide variant not specified [RCV001354924] Chr1:119916253 [GRCh38]
Chr1:120458876 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.3461C>T (p.Ala1154Val) single nucleotide variant Hajdu-Cheney syndrome [RCV001369293] Chr1:119937343 [GRCh38]
Chr1:120479966 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.719G>C (p.Gly240Ala) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002499664]|Hajdu-Cheney syndrome [RCV001336626]|not provided [RCV003405565] Chr1:119997029 [GRCh38]
Chr1:120539652 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6125T>C (p.Met2042Thr) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV001310089] Chr1:119916597 [GRCh38]
Chr1:120459220 [GRCh37]
Chr1:1p12		 pathogenic
NM_024408.4(NOTCH2):c.57C>T (p.Cys19=) single nucleotide variant not provided [RCV001312092] Chr1:120069350 [GRCh38]
Chr1:120611964 [GRCh37]
Chr1:1p12		 likely benign
NM_024408.4(NOTCH2):c.1682-10C>A single nucleotide variant Congenital anomaly of kidney and urinary tract [RCV001328213] Chr1:119963817 [GRCh38]
Chr1:120506440 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.5123_5132delinsAGA (p.Ser1708_Leu1711delinsTer) indel Hajdu-Cheney syndrome [RCV001329959] Chr1:119922317..119922326 [GRCh38]
Chr1:120464940..120464949 [GRCh37]
Chr1:1p12		 pathogenic
NM_024408.4(NOTCH2):c.6325A>G (p.Lys2109Glu) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV001329961] Chr1:119916397 [GRCh38]
Chr1:120459020 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.2587C>T (p.Pro863Ser) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV001336624] Chr1:119949019 [GRCh38]
Chr1:120491642 [GRCh37]
Chr1:1p12		 likely pathogenic
NM_024408.4(NOTCH2):c.5105G>A (p.Arg1702Gln) single nucleotide variant Hajdu-Cheney syndrome [RCV001863079]|Premature ovarian failure [RCV001270188] Chr1:119922344 [GRCh38]
Chr1:120464967 [GRCh37]
Chr1:1p12		 likely pathogenic|uncertain significance
NM_024408.4(NOTCH2):c.6282G>A (p.Leu2094=) single nucleotide variant Hajdu-Cheney syndrome [RCV001494417] Chr1:119916440 [GRCh38]
Chr1:120459063 [GRCh37]
Chr1:1p12		 likely benign
NM_024408.4(NOTCH2):c.5775C>T (p.Val1925=) single nucleotide variant Hajdu-Cheney syndrome [RCV001458231] Chr1:119919318 [GRCh38]
Chr1:120461941 [GRCh37]
Chr1:1p12		 likely benign
NM_024408.4(NOTCH2):c.3105G>A (p.Leu1035=) single nucleotide variant Hajdu-Cheney syndrome [RCV001424901] Chr1:119940633 [GRCh38]
Chr1:120483256 [GRCh37]
Chr1:1p12		 likely benign
NM_024408.4(NOTCH2):c.4512-147C>G single nucleotide variant not provided [RCV001539107] Chr1:119924131 [GRCh38]
Chr1:120466754 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.1668C>A (p.Cys556Ter) single nucleotide variant Hajdu-Cheney syndrome [RCV001380501] Chr1:119965466 [GRCh38]
Chr1:120508089 [GRCh37]
Chr1:1p12		 pathogenic
NM_024408.4(NOTCH2):c.1568-17C>T single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002495973]|Hajdu-Cheney syndrome [RCV002072963]|not provided [RCV001636256]|not specified [RCV001699826] Chr1:119965583 [GRCh38]
Chr1:120508206 [GRCh37]
Chr1:1p12		 benign|likely benign
NM_024408.4(NOTCH2):c.2480-257G>A single nucleotide variant not provided [RCV001588241] Chr1:119949383 [GRCh38]
Chr1:120492006 [GRCh37]
Chr1:1p12		 likely benign
NM_024408.4(NOTCH2):c.435G>A (p.Thr145=) single nucleotide variant not provided [RCV001684253]|not specified [RCV003151346] Chr1:119997313 [GRCh38]
Chr1:120539936 [GRCh37]
Chr1:1p12		 benign|likely benign
NM_024408.4(NOTCH2):c.5480-25T>C single nucleotide variant not provided [RCV001651654] Chr1:119919638 [GRCh38]
Chr1:120462261 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.4461C>T (p.Val1487=) single nucleotide variant Hajdu-Cheney syndrome [RCV001465762] Chr1:119925355 [GRCh38]
Chr1:120467978 [GRCh37]
Chr1:1p12		 likely benign
NM_024408.4(NOTCH2):c.1299T>C (p.Cys433=) single nucleotide variant Hajdu-Cheney syndrome [RCV001521119] Chr1:119967587 [GRCh38]
Chr1:120510210 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.61G>A (p.Ala21Thr) single nucleotide variant not provided [RCV001641019]|not specified [RCV001699827] Chr1:120069346 [GRCh38]
Chr1:120611960 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.1109-26T>G single nucleotide variant not provided [RCV001695923] Chr1:119968258 [GRCh38]
Chr1:120510881 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.2981+11A>G single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002502015]|Hajdu-Cheney syndrome [RCV002073155]|not provided [RCV001667470] Chr1:119941515 [GRCh38]
Chr1:120484138 [GRCh37]
Chr1:1p12		 benign|likely benign
NM_024408.4(NOTCH2):c.2365+39T>G single nucleotide variant not provided [RCV001651868] Chr1:119953504 [GRCh38]
Chr1:120496127 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.3184-76G>A single nucleotide variant not provided [RCV001617783] Chr1:119938086 [GRCh38]
Chr1:120480709 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.3561A>G (p.Glu1187=) single nucleotide variant Hajdu-Cheney syndrome [RCV001466834] Chr1:119935566 [GRCh38]
Chr1:120478189 [GRCh37]
Chr1:1p12		 likely benign
NM_024408.4(NOTCH2):c.3655+54A>G single nucleotide variant NOTCH2-related disorder [RCV003913326]|not provided [RCV001710985] Chr1:119935418 [GRCh38]
Chr1:120478041 [GRCh37]
Chr1:1p12		 benign|likely benign
NM_024408.4(NOTCH2):c.5214-49A>G single nucleotide variant not provided [RCV001652489] Chr1:119921858 [GRCh38]
Chr1:120464481 [GRCh37]
Chr1:1p12		 benign
NC_000001.11:g.120069683C>A single nucleotide variant not provided [RCV001686083] Chr1:120069683 [GRCh38]
Chr1:120612297 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.456C>T (p.Pro152=) single nucleotide variant not provided [RCV001529632]|not specified [RCV001700780] Chr1:119997292 [GRCh38]
Chr1:120539915 [GRCh37]
Chr1:1p12		 benign|likely benign
NM_024408.4(NOTCH2):c.6045T>C (p.Phe2015=) single nucleotide variant Hajdu-Cheney syndrome [RCV001516521] Chr1:119916677 [GRCh38]
Chr1:120459300 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.6543C>T (p.Asn2181=) single nucleotide variant Hajdu-Cheney syndrome [RCV001477957] Chr1:119916179 [GRCh38]
Chr1:120458802 [GRCh37]
Chr1:1p12		 likely benign
NM_024408.4(NOTCH2):c.6386del (p.Ser2129fs) deletion Hajdu-Cheney syndrome [RCV001383656] Chr1:119916336 [GRCh38]
Chr1:120458959 [GRCh37]
Chr1:1p12		 pathogenic
NM_024408.4(NOTCH2):c.3109G>A (p.Glu1037Lys) single nucleotide variant Hajdu-Cheney syndrome [RCV001503620]|Inborn genetic diseases [RCV004037443]|NOTCH2-related disorder [RCV003966034] Chr1:119940629 [GRCh38]
Chr1:120483252 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.3656-16C>G single nucleotide variant Hajdu-Cheney syndrome [RCV003108860] Chr1:119929228 [GRCh38]
Chr1:120471851 [GRCh37]
Chr1:1p12		 likely benign
NM_024408.4(NOTCH2):c.4202A>G (p.Gln1401Arg) single nucleotide variant Inborn genetic diseases [RCV004641952]|not specified [RCV002271951] Chr1:119925614 [GRCh38]
Chr1:120468237 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.2560T>C (p.Phe854Leu) single nucleotide variant Hajdu-Cheney syndrome [RCV002273151]|NOTCH2-related disorder [RCV003903658] Chr1:119949046 [GRCh38]
Chr1:120491669 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.4019C>T (p.Ala1340Val) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002272919] Chr1:119925797 [GRCh38]
Chr1:120468420 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6450del (p.Val2151fs) deletion See cases [RCV002252586] Chr1:119916272 [GRCh38]
Chr1:120458895 [GRCh37]
Chr1:1p12		 likely pathogenic
NM_024408.4(NOTCH2):c.8C>T (p.Ala3Val) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV001733725]|not provided [RCV004711713] Chr1:120069399 [GRCh38]
Chr1:120612013 [GRCh37]
Chr1:1p12		 likely benign
NM_024408.4(NOTCH2):c.5723A>G (p.Asn1908Ser) single nucleotide variant not provided [RCV001754312] Chr1:119919370 [GRCh38]
Chr1:120461993 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.4457C>T (p.Thr1486Met) single nucleotide variant not provided [RCV001763762] Chr1:119925359 [GRCh38]
Chr1:120467982 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.2597A>T (p.Gln866Leu) single nucleotide variant not provided [RCV001772589] Chr1:119949009 [GRCh38]
Chr1:120491632 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.2993A>G (p.Asn998Ser) single nucleotide variant Hajdu-Cheney syndrome [RCV003633594]|not provided [RCV001752003] Chr1:119940745 [GRCh38]
Chr1:120483368 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.5954C>A (p.Ala1985Asp) single nucleotide variant not provided [RCV001752128] Chr1:119917738 [GRCh38]
Chr1:120460361 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6424T>C (p.Ser2142Pro) single nucleotide variant not provided [RCV001752006] Chr1:119916298 [GRCh38]
Chr1:120458921 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6533C>A (p.Ala2178Asp) single nucleotide variant Hajdu-Cheney syndrome [RCV003771998]|not provided [RCV001757124] Chr1:119916189 [GRCh38]
Chr1:120458812 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.5894A>G (p.Asn1965Ser) single nucleotide variant not provided [RCV001754165] Chr1:119918441 [GRCh38]
Chr1:120461064 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.4860-37A>C single nucleotide variant not provided [RCV001779751] Chr1:119922815 [GRCh38]
Chr1:120465438 [GRCh37]
Chr1:1p12		 benign
NM_024408.4(NOTCH2):c.5422dup (p.Thr1808fs) duplication not provided [RCV001784752] Chr1:119920285..119920286 [GRCh38]
Chr1:120462908..120462909 [GRCh37]
Chr1:1p12		 pathogenic|likely pathogenic
NM_024408.4(NOTCH2):c.2981+133_2981+135del deletion not provided [RCV001797496] Chr1:119941391..119941393 [GRCh38]
Chr1:120484014..120484016 [GRCh37]
Chr1:1p12		 likely benign
NM_024408.4(NOTCH2):c.5624G>A (p.Arg1875Gln) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002282575]|Hajdu-Cheney syndrome [RCV002540407]|not provided [RCV001758446] Chr1:119919469 [GRCh38]
Chr1:120462092 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.5276T>C (p.Val1759Ala) single nucleotide variant Hajdu-Cheney syndrome [RCV002541505]|not provided [RCV001816060] Chr1:119921747 [GRCh38]
Chr1:120464370 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance
NM_024408.4(NOTCH2):c.5195A>G (p.Gln1732Arg) single nucleotide variant not provided [RCV001758257] Chr1:119922254 [GRCh38]
Chr1:120464877 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.4145C>A (p.Pro1382His) single nucleotide variant Hajdu-Cheney syndrome [RCV002542559]|not specified [RCV001819315] Chr1:119925671 [GRCh38]
Chr1:120468294 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6008G>A (p.Arg2003Gln) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002490067]|Hajdu-Cheney syndrome [RCV001872870] Chr1:119917684 [GRCh38]
Chr1:120460307 [GRCh37]
Chr1:1p12		 uncertain significance
NC_000001.10:g.(?_119427355)_(120529725_?)dup duplication Hajdu-Cheney syndrome [RCV003120765]|not provided [RCV001950535] Chr1:119427355..120529725 [GRCh37]
Chr1:1p12		 uncertain significance|no classifications from unflagged records
NM_024408.4(NOTCH2):c.2602C>G (p.Gln868Glu) single nucleotide variant Hajdu-Cheney syndrome [RCV001872951] Chr1:119948564 [GRCh38]
Chr1:120491187 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.3527T>C (p.Val1176Ala) single nucleotide variant Hajdu-Cheney syndrome [RCV001864163] Chr1:119935600 [GRCh38]
Chr1:120478223 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.4888C>T (p.Arg1630Cys) single nucleotide variant Hajdu-Cheney syndrome [RCV001915436] Chr1:119922750 [GRCh38]
Chr1:120465373 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6911T>C (p.Ile2304Thr) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002503665]|Hajdu-Cheney syndrome [RCV001987213]|Inborn genetic diseases [RCV002562757] Chr1:119915811 [GRCh38]
Chr1:120458434 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.3430A>G (p.Ser1144Gly) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002492260]|Hajdu-Cheney syndrome [RCV001988497] Chr1:119937374 [GRCh38]
Chr1:120479997 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.881T>A (p.Phe294Tyr) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002492249]|Hajdu-Cheney syndrome [RCV002008615]|NOTCH2-related disorder [RCV004741179] Chr1:119969738 [GRCh38]
Chr1:120512361 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6871G>A (p.Gly2291Arg) single nucleotide variant Hajdu-Cheney syndrome [RCV002008800] Chr1:119915851 [GRCh38]
Chr1:120458474 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.4316G>A (p.Cys1439Tyr) single nucleotide variant Hajdu-Cheney syndrome [RCV001987947] Chr1:119925500 [GRCh38]
Chr1:120468123 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6802T>A (p.Phe2268Ile) single nucleotide variant Hajdu-Cheney syndrome [RCV001970827] Chr1:119915920 [GRCh38]
Chr1:120458543 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.3298G>A (p.Val1100Met) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002484781]|Hajdu-Cheney syndrome [RCV002004633] Chr1:119937896 [GRCh38]
Chr1:120480519 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6607A>C (p.Asn2203His) single nucleotide variant Hajdu-Cheney syndrome [RCV001929506] Chr1:119916115 [GRCh38]
Chr1:120458738 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6878A>C (p.His2293Pro) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002497818]|Hajdu-Cheney syndrome [RCV001950467]|NOTCH2-related disorder [RCV003913463] Chr1:119915844 [GRCh38]
Chr1:120458467 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.2235_2236del (p.Cys745_Asp746delinsTer) microsatellite Hajdu-Cheney syndrome [RCV002007177] Chr1:119953672..119953673 [GRCh38]
Chr1:120496295..120496296 [GRCh37]
Chr1:1p12		 pathogenic
NM_024408.4(NOTCH2):c.7356G>T (p.Gln2452His) single nucleotide variant Hajdu-Cheney syndrome [RCV001892737] Chr1:119915366 [GRCh38]
Chr1:120457989 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.7016T>C (p.Met2339Thr) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002489953]|Hajdu-Cheney syndrome [RCV001873934] Chr1:119915706 [GRCh38]
Chr1:120458329 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.5930-2A>G single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002280379] Chr1:119917764 [GRCh38]
Chr1:120460387 [GRCh37]
Chr1:1p12		 pathogenic
NM_024408.4(NOTCH2):c.2339G>T (p.Arg780Met) single nucleotide variant Hajdu-Cheney syndrome [RCV001891162] Chr1:119953569 [GRCh38]
Chr1:120496192 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.4303C>T (p.Arg1435Trp) single nucleotide variant Hajdu-Cheney syndrome [RCV001909906] Chr1:119925513 [GRCh38]
Chr1:120468136 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.4276C>A (p.Leu1426Met) single nucleotide variant Hajdu-Cheney syndrome [RCV001891665] Chr1:119925540 [GRCh38]
Chr1:120468163 [GRCh37]
Chr1:1p12		 uncertain significance
GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783) copy number gain not specified [RCV002053602] Chr1:111647582..121343783 [GRCh37]
Chr1:1p13.3-11.2		 pathogenic
NM_024408.4(NOTCH2):c.1211C>T (p.Pro404Leu) single nucleotide variant Keratoacanthoma [RCV001849882] Chr1:119968130 [GRCh38]
Chr1:120510753 [GRCh37]
Chr1:1p12		 pathogenic
NM_024408.4(NOTCH2):c.6904C>G (p.Pro2302Ala) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002498068]|Hajdu-Cheney syndrome [RCV002041260] Chr1:119915818 [GRCh38]
Chr1:120458441 [GRCh37]
Chr1:1p12		 uncertain significance
GRCh37/hg19 1p12(chr1:119584796-120527495)x3 copy number gain not provided [RCV001834183] Chr1:119584796..120527495 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6474C>A (p.His2158Gln) single nucleotide variant Hajdu-Cheney syndrome [RCV002023606] Chr1:119916248 [GRCh38]
Chr1:120458871 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.30G>A (p.Trp10Ter) single nucleotide variant KA-like vemurafenib-induced squamous lesions [RCV001849581] Chr1:120069377 [GRCh38]
Chr1:120611991 [GRCh37]
Chr1:1p12		 pathogenic
NM_024408.4(NOTCH2):c.3701A>G (p.His1234Arg) single nucleotide variant Alagille syndrome due to a NOTCH2 point mutation [RCV002491976]|Hajdu-Cheney syndrome [RCV001948386] Chr1:119929167 [GRCh38]
Chr1:120471790 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.4939G>T (p.Ala1647Ser) single nucleotide variant Hajdu-Cheney syndrome [RCV002040688] Chr1:119922699 [GRCh38]
Chr1:120465322 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.6912dup (p.Val2305fs) duplication Hajdu-Cheney syndrome [RCV001895388] Chr1:119915809..119915810 [GRCh38]
Chr1:120458432..120458433 [GRCh37]
Chr1:1p12		 likely pathogenic|uncertain significance
NM_024408.4(NOTCH2):c.1015A>G (p.Ile339Val) single nucleotide variant Hajdu-Cheney syndrome [RCV002020899] Chr1:119969604 [GRCh38]
Chr1:120512227 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.2166C>A (p.Asn722Lys) single nucleotide variant Hajdu-Cheney syndrome [RCV001908331] Chr1:119955093 [GRCh38]
Chr1:120497716 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.5540AAGATG[1] (p.1847ED[1]) microsatellite Alagille syndrome due to a NOTCH2 point mutation [RCV002484691]|Hajdu-Cheney syndrome [RCV001965215] Chr1:119919542..119919547 [GRCh38]
Chr1:120462165..120462170 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.2518A>G (p.Asn840Asp) single nucleotide variant Hajdu-Cheney syndrome [RCV001947845] Chr1:119949088 [GRCh38]
Chr1:120491711 [GRCh37]
Chr1:1p12		 uncertain significance
NM_024408.4(NOTCH2):c.5904G>A (p.Ala1968=) single nucleotide variant Hajdu-Cheney syndrome [RCV002022928] Chr1:119918431 [GRCh38]
Chr1:120461054 [GRCh37]
Chr1:1p12		 likely benign|uncertain significance