JAG1 (jagged canonical Notch ligand 1) - Rat Genome Database

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Gene: JAG1 (jagged canonical Notch ligand 1) Homo sapiens
Analyze
Symbol: JAG1
Name: jagged canonical Notch ligand 1
RGD ID: 1353888
HGNC Page HGNC:6188
Description: Enables Notch binding activity; molecular adaptor activity; and phospholipid binding activity. Involved in several processes, including circulatory system development; negative regulation of cell adhesion; and neuronal stem cell population maintenance. Located in plasma membrane. Implicated in Alagille syndrome; Charcot-Marie-Tooth disease; congenital heart disease; multiple sclerosis; and tetralogy of Fallot. Biomarker of hepatocellular carcinoma; multiple sclerosis; osteoarthritis; and temporal arteritis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AGS; AGS1; AHD; Alagille syndrome; AWS; CD339; CMT2HH; DCHE; HJ1; jagged 1; jagged 1 (Alagille syndrome); jagged1; JAGL1; MGC104644; protein jagged-1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382010,637,684 - 10,673,999 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2010,637,684 - 10,673,999 (-)EnsemblGRCh38hg38GRCh38
GRCh372010,618,332 - 10,654,647 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362010,566,334 - 10,602,590 (-)NCBINCBI36Build 36hg18NCBI36
Build 342010,566,333 - 10,602,590NCBI
Celera2010,688,304 - 10,724,650 (-)NCBICelera
Cytogenetic Map20p12.2NCBI
HuRef2010,569,771 - 10,606,135 (-)NCBIHuRef
CHM1_12010,618,904 - 10,655,234 (-)NCBICHM1_1
T2T-CHM13v2.02010,680,698 - 10,717,017 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
1,4-benzoquinone  (EXP)
1-Hydroxypyrene  (EXP)
1-naphthol  (EXP)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (EXP,ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3-methyladenine  (ISO)
3-methylcholanthrene  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (EXP,ISO)
7,12-dimethyltetraphene  (ISO)
8-Br-cAMP  (EXP)
9-phenanthrol  (EXP)
acrolein  (EXP)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
alpha-naphthoflavone  (ISO)
alpha-pinene  (EXP)
alpha-Zearalanol  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
amphotericin B  (EXP)
anthra[1,9-cd]pyrazol-6(2H)-one  (ISO)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
atrazine  (ISO)
azathioprine  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-lapachone  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Butylbenzyl phthalate  (ISO)
Butylparaben  (ISO)
cadmium dichloride  (EXP)
caffeine  (EXP)
calciol  (ISO)
celastrol  (EXP)
chloropicrin  (EXP)
ciglitazone  (EXP)
cisplatin  (EXP)
clofibrate  (ISO)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
crocidolite asbestos  (ISO)
Cuprizon  (ISO)
cyclophosphamide  (EXP)
cyclosporin A  (EXP,ISO)
cypermethrin  (ISO)
DAPT  (EXP)
DDE  (EXP)
dexamethasone  (EXP,ISO)
diallyl trisulfide  (EXP)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
diethyl phthalate  (ISO)
diethylstilbestrol  (EXP)
diisobutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
dimethylarsinic acid  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
emodin  (ISO)
endosulfan  (ISO)
Enterolactone  (EXP)
enzacamene  (ISO)
enzalutamide  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
Ethylenethiourea  (ISO)
flavonoids  (ISO)
fluoxetine  (ISO)
formaldehyde  (EXP)
furan  (ISO)
gedunin  (EXP)
genistein  (ISO)
gentamycin  (ISO)
glycyrrhizinic acid  (EXP)
gold atom  (EXP)
gold(0)  (EXP)
HT-2 toxin  (EXP)
hydrazine  (ISO)
hydrogen peroxide  (EXP)
hydroquinone  (EXP)
hypochlorous acid  (ISO)
indometacin  (EXP)
L-ascorbic acid  (ISO)
leflunomide  (EXP)
lidocaine  (ISO)
lipopolysaccharide  (EXP,ISO)
manganese atom  (EXP)
manganese(0)  (EXP)
manganese(II) chloride  (EXP)
mechlorethamine  (ISO)
menadione  (EXP)
mercury dichloride  (ISO)
methimazole  (ISO)
methotrexate  (EXP)
methylmercury chloride  (EXP)
mono(2-ethylhexyl) phthalate  (EXP,ISO)
monocrotaline  (EXP)
N(6)-dimethylallyladenine  (EXP)
N-acetyl-L-cysteine  (EXP)
N-ethyl-N-nitrosourea  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
nickel dichloride  (EXP)
oxaliplatin  (ISO)
ozone  (EXP)
paracetamol  (EXP,ISO)
paraquat  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctanoic acid  (EXP)
phenethyl isothiocyanate  (EXP)
phenobarbital  (EXP,ISO)
pinosylvin  (EXP)
potassium chromate  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
quercetin  (EXP)
raloxifene  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP)
silver atom  (EXP)
silver(0)  (EXP)
sirolimus  (EXP,ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
sodium fluoride  (ISO)
succimer  (EXP)
T-2 toxin  (EXP)
tamoxifen  (EXP)
tebuconazole  (ISO)
temozolomide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
tetrathiomolybdate(2-)  (EXP)
thioacetamide  (ISO)
thiram  (EXP)
Tiron  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trans-pinosylvin  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triphenyl phosphate  (EXP)
triptonide  (ISO)
trovafloxacin  (ISO)
tyrphostin AG 1478  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
zearalenone  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
angiogenesis  (NAS)
animal organ morphogenesis  (IEA)
animal organ regeneration  (ISO)
aorta morphogenesis  (IEA,ISS)
aortic valve morphogenesis  (NAS)
blood vessel remodeling  (IEA)
camera-type eye development  (IEA)
cardiac neural crest cell development involved in outflow tract morphogenesis  (IEA,ISS)
cardiac right ventricle morphogenesis  (IEA,ISS)
cardiac septum morphogenesis  (IEA,ISS)
cell communication  (IEA)
cell fate determination  (NAS)
ciliary body morphogenesis  (IEA)
distal tubule development  (IEA)
endocardial cushion cell development  (IEA,ISS)
endothelial cell differentiation  (NAS)
hemopoiesis  (NAS)
inhibition of neuroepithelial cell differentiation  (IEA)
inner ear auditory receptor cell differentiation  (IEA,ISO)
inner ear development  (IEA)
keratinocyte differentiation  (NAS)
loop of Henle development  (IEA)
morphogenesis of an epithelial sheet  (IEA)
myoblast differentiation  (NAS)
negative regulation of cell differentiation  (ISO)
negative regulation of cell migration  (IDA)
negative regulation of cell-cell adhesion  (IDA)
negative regulation of cell-matrix adhesion  (IDA)
negative regulation of endothelial cell differentiation  (IEA)
negative regulation of fat cell differentiation  (IEA)
negative regulation of neuron differentiation  (IEA)
negative regulation of stem cell differentiation  (IMP)
nephron development  (IEA,ISS)
nervous system development  (NAS)
neuroendocrine cell differentiation  (IEA)
neuron differentiation  (IEA)
neuronal stem cell population maintenance  (IEP)
Notch signaling pathway  (IEA,IMP,ISO,ISS,NAS)
podocyte development  (IEA,ISS)
positive regulation of cardiac epithelial to mesenchymal transition  (ISS)
positive regulation of gene expression  (ISO)
positive regulation of myeloid cell differentiation  (IEA)
positive regulation of Notch signaling pathway  (IEA,ISS)
positive regulation of osteoblast differentiation  (IEA)
positive regulation of transcription by RNA polymerase II  (IEA,IMP)
pulmonary artery morphogenesis  (IMP)
pulmonary valve morphogenesis  (IMP)
regulation of cell population proliferation  (ISO,NAS)
regulation of epithelial cell proliferation  (IEA)
response to muramyl dipeptide  (IEA)
T cell mediated immunity  (IMP)
wound healing  (ISO)

Cellular Component
adherens junction  (IEA,ISS)
apical part of cell  (IEA)
apical plasma membrane  (IEA,ISS)
extracellular region  (NAS)
membrane  (IEA,IMP,TAS)
plasma membrane  (IDA,IEA,NAS,TAS)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal anterior chamber morphology  (IAGP)
Abnormal nasal morphology  (IAGP)
Abnormal rib morphology  (IAGP)
Abnormal vestibular function  (IAGP)
Aortic aneurysm  (IAGP)
Areflexia  (IAGP)
Areflexia of lower limbs  (IAGP)
Areflexia of upper limbs  (IAGP)
Atrial septal defect  (IAGP)
Autosomal dominant inheritance  (IAGP)
Axenfeld anomaly  (IAGP)
Band keratopathy  (IAGP)
Brachydactyly  (IAGP)
Broad forehead  (IAGP)
Bulbous nose  (IAGP)
Butterfly vertebral arch  (IAGP)
Cataract  (IAGP)
Centrally nucleated skeletal muscle fibers  (IAGP)
Childhood onset  (IAGP)
Cholestasis  (IAGP)
Chorioretinal atrophy  (IAGP)
Cirrhosis  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Clubbing of fingers  (IAGP)
Coarctation of aorta  (IAGP)
Concave nasal ridge  (IAGP)
Congenital onset  (IAGP)
Cryptorchidism  (IAGP)
Deeply set eye  (IAGP)
Delayed ability to walk  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Distal muscle weakness  (IAGP)
Dolichocephaly  (IAGP)
Duplicated collecting system  (IAGP)
Dysphagia  (IAGP)
Edema  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
Exocrine pancreatic insufficiency  (IAGP)
Failure to thrive  (IAGP)
Fasciculations  (IAGP)
First dorsal interossei muscle weakness  (IAGP)
Focal segmental glomerulosclerosis  (IAGP)
Foot dorsiflexor weakness  (IAGP)
Frontal bossing  (IAGP)
Hearing impairment  (IAGP)
Hemivertebrae  (IAGP)
Hepatic failure  (IAGP)
Hepatoblastoma  (IAGP)
Hepatocellular carcinoma  (IAGP)
Hypercholesterolemia  (IAGP)
Hypertelorism  (IAGP)
Hypertriglyceridemia  (IAGP)
Hypoplasia of the ulna  (IAGP)
Hypotonia  (IAGP)
Impaired distal vibration sensation  (IAGP)
Impaired pain sensation  (IAGP)
Impaired tandem gait  (IAGP)
Impaired temperature sensation  (IAGP)
Infantile onset  (IAGP)
Intellectual disability, mild  (IAGP)
Intrauterine growth retardation  (IAGP)
Intrinsic hand muscle atrophy  (IAGP)
Kyphoscoliosis  (IAGP)
Long nose  (IAGP)
Low-set ears  (IAGP)
Macrotia  (IAGP)
Microcornea  (IAGP)
Migraine  (IAGP)
Multiple small medullary renal cysts  (IAGP)
Myopia  (IAGP)
Night sweats  (IAGP)
Papillary thyroid carcinoma  (IAGP)
Peripheral pulmonary artery stenosis  (IAGP)
Pes cavus  (IAGP)
Pes planus  (IAGP)
Pigmentary retinopathy  (IAGP)
Polyminimyoclonus  (IAGP)
Posterior embryotoxon  (IAGP)
Preauricular pit  (IAGP)
Prolonged neonatal jaundice  (IAGP)
Proptosis  (IAGP)
Reduced number of intrahepatic bile ducts  (IAGP)
Renal artery stenosis  (IAGP)
Renal dysplasia  (IAGP)
Renal hypoplasia  (IAGP)
Renal tubular acidosis  (IAGP)
Retinal dystrophy  (IAGP)
Scoliosis  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe global developmental delay  (IAGP)
Short distal phalanx of finger  (IAGP)
Specific learning disability  (IAGP)
Stage 5 chronic kidney disease  (IAGP)
Strabismus  (IAGP)
Stridor  (IAGP)
Stroke  (IAGP)
Tetralogy of Fallot  (IAGP)
Thin vermilion border  (IAGP)
Tremor  (IAGP)
Triangular face  (IAGP)
Triceps weakness  (IAGP)
Typified by incomplete penetrance  (IAGP)
Underdeveloped supraorbital ridges  (IAGP)
Upslanted palpebral fissure  (IAGP)
Ventricular septal defect  (IAGP)
Vesicoureteral reflux  (IAGP)
Vocal cord paresis  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Linkage disequilibrium screening for multiple sclerosis implicates JAG1 and POU2AF1 as susceptibility genes in Europeans. Ban M, etal., J Neuroimmunol. 2006 Oct;179(1-2):108-16. Epub 2006 Aug 24.
2. Soluble Jagged-1 inhibits neointima formation by attenuating Notch-Herp2 signaling. Caolo V, etal., Arterioscler Thromb Vasc Biol. 2011 May;31(5):1059-65. Epub 2011 Feb 17.
3. The pattern of expression of Notch protein members in normal and pathological endometrium. Cobellis L, etal., J Anat. 2008 Aug 4.
4. Familial Tetralogy of Fallot caused by mutation in the jagged1 gene. Eldadah ZA, etal., Hum Mol Genet. 2001 Jan 15;10(2):163-9.
5. JAGGED1 and delta1 differentially regulate the outcome of experimental autoimmune encephalomyelitis. Elyaman W, etal., J Immunol. 2007 Nov 1;179(9):5990-8.
6. Cell and molecular biology of Notch. Fiuza UM and Arias AM, J Endocrinol. 2007 Sep;194(3):459-74.
7. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
8. Differential effects of targeting Notch receptors in a mouse model of liver cancer. Huntzicker EG, etal., Hepatology. 2015 Mar;61(3):942-52. doi: 10.1002/hep.27566. Epub 2015 Jan 28.
9. Notch1, Jagged1, and HES5 are abundantly expressed in osteoarthritis. Karlsson C, etal., Cells Tissues Organs. 2008;188(3):287-98. Epub 2008 Mar 20.
10. Jagged1 suppresses collagen-induced arthritis by indirectly providing a negative signal in CD8+ T cells. Kijima M, etal., J Immunol. 2009 Mar 15;182(6):3566-72.
11. Expression of Notch-1 and its ligand Jagged-1 in rat liver during liver regeneration. Kohler C, etal., Hepatology 2004 Apr;39(4):1056-65.
12. The expression profile of Jagged1 and Delta-like 4 in hepatocellular carcinoma. Kunanopparat A, etal., Asian Pac J Allergy Immunol. 2019 Jan 13. doi: 10.12932/AP-040818-0388.
13. Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of jagged 1. Le Caignec C, etal., Am J Hum Genet. 2002 Jul;71(1):180-6. Epub 2002 May 17.
14. Jagged: a mammalian ligand that activates Notch1. Lindsell CE, etal., Cell 1995 Mar 24;80(6):909-17.
15. NOTCH1 signaling induces pathological vascular permeability in diabetic retinopathy. Miloudi K, etal., Proc Natl Acad Sci U S A. 2019 Mar 5;116(10):4538-4547. doi: 10.1073/pnas.1814711116. Epub 2019 Feb 20.
16. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
17. Alagille syndrome and the Jagged1 gene. Piccoli DA and Spinner NB, Semin Liver Dis. 2001 Nov;21(4):525-34.
18. Blocking the NOTCH pathway inhibits vascular inflammation in large-vessel vasculitis. Piggott K, etal., Circulation. 2011 Jan 25;123(3):309-18. Epub 2011 Jan 10.
19. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
20. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
21. Oxidative stress-induced apoptosis in two patients with Alagille syndrome. Radi E, etal., J Neurol Sci. 2011 Sep 15;308(1-2):49-56. Epub 2011 Jun 28.
22. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
23. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
24. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
25. Proteomics comparison of cerebrospinal fluid of relapsing remitting and primary progressive multiple sclerosis. Stoop MP, etal., PLoS One. 2010 Aug 27;5(8):e12442.
26. Pancreatic regeneration in chronic pancreatitis requires activation of the notch signaling pathway. Su Y, etal., J Gastrointest Surg. 2006 Nov;10(9):1230-41; discussion 1242.
27. Ozzy, a Jag1 vestibular mouse mutant, displays characteristics of Alagille syndrome. Vrijens K, etal., Neurobiol Dis. 2006 Oct;24(1):28-40. Epub 2006 Jul 26.
28. Notch pathway is activated in cell culture and mouse models of mutant SOD1-related familial amyotrophic lateral sclerosis, with suppression of its activation as an additional mechanism of neuroprotection for lithium and valproate. Wang SY, etal., Neuroscience. 2015 Aug 20;301:276-88. doi: 10.1016/j.neuroscience.2015.06.002. Epub 2015 Jun 8.
29. The expression levels of Notch-related signaling molecules in pulmonary microvascular endothelial cells in bleomycin-induced rat pulmonary fibrosis. Yin Q, etal., Physiol Res. 2017 May 4;66(2):305-315. doi: 10.33549/physiolres.933356. Epub 2016 Dec 16.
Additional References at PubMed
PMID:8635876   PMID:8923452   PMID:8955070   PMID:9207787   PMID:9207788   PMID:9268641   PMID:9462510   PMID:9585603   PMID:9707552   PMID:10079256   PMID:10220506   PMID:10329626  
PMID:10533065   PMID:10551863   PMID:10679295   PMID:10958687   PMID:11006133   PMID:11058898   PMID:11067884   PMID:11139247   PMID:11157803   PMID:11180599   PMID:11346656   PMID:11427524  
PMID:11549580   PMID:11780052   PMID:11964309   PMID:11999354   PMID:12036964   PMID:12107827   PMID:12297837   PMID:12357247   PMID:12370358   PMID:12427653   PMID:12442286   PMID:12477932  
PMID:12482954   PMID:12496248   PMID:12497640   PMID:12649809   PMID:12684674   PMID:12826675   PMID:12842995   PMID:14714274   PMID:14726396   PMID:14769803   PMID:15254769   PMID:15258909  
PMID:15280477   PMID:15358557   PMID:15466172   PMID:15489334   PMID:15712272   PMID:15781650   PMID:15905075   PMID:15919944   PMID:16013021   PMID:16023595   PMID:16307184   PMID:16403414  
PMID:16427310   PMID:16575836   PMID:16791277   PMID:17301032   PMID:17359939   PMID:17368936   PMID:17507991   PMID:17661408   PMID:17720887   PMID:17822320   PMID:17984306   PMID:17990101  
PMID:18060036   PMID:18077452   PMID:18079963   PMID:18192230   PMID:18254948   PMID:18266235   PMID:18563556   PMID:18593716   PMID:18632624   PMID:18660822   PMID:18784255   PMID:19150223  
PMID:19150886   PMID:19181211   PMID:19204726   PMID:19393188   PMID:19398721   PMID:19430482   PMID:19453261   PMID:19460752   PMID:19542446   PMID:19586525   PMID:19603167   PMID:19682396  
PMID:19728763   PMID:19780835   PMID:19816565   PMID:19913121   PMID:19915977   PMID:19935714   PMID:19948535   PMID:20038814   PMID:20040020   PMID:20096396   PMID:20237496   PMID:20301450  
PMID:20331378   PMID:20437614   PMID:20517681   PMID:20554499   PMID:20580881   PMID:20586101   PMID:20628086   PMID:20634891   PMID:20683201   PMID:20720151   PMID:20800871   PMID:20812035  
PMID:20819075   PMID:20819128   PMID:20829885   PMID:20833210   PMID:20870935   PMID:20951801   PMID:20953350   PMID:21062756   PMID:21103979   PMID:21145176   PMID:21199807   PMID:21266409  
PMID:21348951   PMID:21602525   PMID:21637926   PMID:21639801   PMID:21685392   PMID:21752016   PMID:21753153   PMID:21757656   PMID:21810559   PMID:21820430   PMID:21866461   PMID:21873635  
PMID:21893051   PMID:21909110   PMID:21909115   PMID:21911304   PMID:22020917   PMID:22040217   PMID:22080880   PMID:22174012   PMID:22199357   PMID:22204979   PMID:22296176   PMID:22348356  
PMID:22357466   PMID:22405927   PMID:22465068   PMID:22487239   PMID:22504420   PMID:22526456   PMID:22618231   PMID:22847978   PMID:22871495   PMID:23086448   PMID:23157415   PMID:23300864  
PMID:23339193   PMID:23375636   PMID:23379739   PMID:23416080   PMID:23752887   PMID:23758219   PMID:23934482   PMID:23956173   PMID:24138322   PMID:24239355   PMID:24573085   PMID:24604720  
PMID:24659709   PMID:24708907   PMID:24722295   PMID:24748328   PMID:24788939   PMID:24844362   PMID:24861552   PMID:24907271   PMID:25176314   PMID:25249183   PMID:25257302   PMID:25368251  
PMID:25380486   PMID:25400810   PMID:25424769   PMID:25514871   PMID:25596152   PMID:25676721   PMID:25747658   PMID:25825216   PMID:25842263   PMID:25903338   PMID:26076142   PMID:26276215  
PMID:26339425   PMID:26341090   PMID:26350262   PMID:26387946   PMID:26406415   PMID:26546995   PMID:26548814   PMID:26618708   PMID:26646450   PMID:26648562   PMID:26679605   PMID:26721293  
PMID:26760175   PMID:26779814   PMID:26921446   PMID:26926447   PMID:26930648   PMID:26971121   PMID:27118257   PMID:27174628   PMID:27216293   PMID:27270422   PMID:27315779   PMID:27487663  
PMID:27532668   PMID:27589478   PMID:27612417   PMID:27832779   PMID:27846321   PMID:27919854   PMID:27941324   PMID:27957826   PMID:28111308   PMID:28161537   PMID:28376567   PMID:28445154  
PMID:28472949   PMID:28476798   PMID:28535010   PMID:28537242   PMID:28566723   PMID:28625320   PMID:28645563   PMID:28695677   PMID:28713992   PMID:28730338   PMID:28926924   PMID:28947612  
PMID:29162437   PMID:29185945   PMID:29242532   PMID:29483232   PMID:29507755   PMID:29541959   PMID:29610298   PMID:29631691   PMID:29636067   PMID:29708032   PMID:29754232   PMID:29783821  
PMID:29895705   PMID:29956768   PMID:30029934   PMID:30065304   PMID:30098829   PMID:30138533   PMID:30226866   PMID:30231940   PMID:30242147   PMID:30328449   PMID:30335237   PMID:30478302  
PMID:30502484   PMID:30530967   PMID:30580328   PMID:30591475   PMID:30639242   PMID:30930165   PMID:30943513   PMID:30993885   PMID:31213122   PMID:31273345   PMID:31343788   PMID:31345231  
PMID:31506332   PMID:31686456   PMID:31781973   PMID:31871319   PMID:31897811   PMID:32030966   PMID:32065591   PMID:32133801   PMID:32234878   PMID:32483746   PMID:32495866   PMID:32721243  
PMID:32751332   PMID:32770090   PMID:32788342   PMID:32842657   PMID:32870569   PMID:32943090   PMID:33131409   PMID:33268505   PMID:33550933   PMID:33795521   PMID:33961781   PMID:34079125  
PMID:34185059   PMID:34219868   PMID:34252231   PMID:34440858   PMID:34475093   PMID:34952204   PMID:35023687   PMID:35385713   PMID:35562782   PMID:35563538   PMID:35710817   PMID:35819173  
PMID:35869777   PMID:35944360   PMID:36044575   PMID:36215168   PMID:36219682   PMID:36430375   PMID:36539520   PMID:37155858   PMID:37249336   PMID:37295026   PMID:37499664   PMID:37657587  
PMID:37756541   PMID:37814867   PMID:37834227   PMID:37966490   PMID:37994984   PMID:38092725   PMID:38245625   PMID:38521405   PMID:38750026   PMID:38783634   PMID:39244638   PMID:39499777  


Genomics

Comparative Map Data
JAG1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382010,637,684 - 10,673,999 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2010,637,684 - 10,673,999 (-)EnsemblGRCh38hg38GRCh38
GRCh372010,618,332 - 10,654,647 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362010,566,334 - 10,602,590 (-)NCBINCBI36Build 36hg18NCBI36
Build 342010,566,333 - 10,602,590NCBI
Celera2010,688,304 - 10,724,650 (-)NCBICelera
Cytogenetic Map20p12.2NCBI
HuRef2010,569,771 - 10,606,135 (-)NCBIHuRef
CHM1_12010,618,904 - 10,655,234 (-)NCBICHM1_1
T2T-CHM13v2.02010,680,698 - 10,717,017 (-)NCBIT2T-CHM13v2.0
Jag1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392136,923,371 - 136,958,440 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2136,923,376 - 136,958,564 (-)EnsemblGRCm39 Ensembl
GRCm382137,081,451 - 137,116,520 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2137,081,456 - 137,116,644 (-)EnsemblGRCm38mm10GRCm38
MGSCv372136,907,194 - 136,942,067 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362136,772,899 - 136,807,772 (-)NCBIMGSCv36mm8
Celera2138,273,274 - 138,308,181 (-)NCBICelera
Cytogenetic Map2F3NCBI
cM Map267.73NCBI
Jag1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83144,859,453 - 144,894,883 (-)NCBIGRCr8
mRatBN7.23124,406,783 - 124,442,220 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3124,406,794 - 124,442,209 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3128,293,948 - 128,329,348 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03136,870,930 - 136,906,325 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03134,556,899 - 134,592,326 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03130,079,361 - 130,114,781 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3130,079,361 - 130,114,770 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03136,558,688 - 136,594,108 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43125,181,063 - 125,216,481 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13125,086,635 - 125,122,054 (-)NCBI
Celera3123,126,087 - 123,161,497 (-)NCBICelera
Cytogenetic Map3q36NCBI
Jag1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541520,490,414 - 20,527,917 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541520,490,414 - 20,526,068 (-)NCBIChiLan1.0ChiLan1.0
JAG1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22111,508,727 - 11,544,727 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12011,505,265 - 11,541,556 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02010,582,234 - 10,618,507 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12010,582,094 - 10,618,383 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2010,582,094 - 10,618,383 (-)Ensemblpanpan1.1panPan2
JAG1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12411,656,926 - 11,693,146 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2411,657,416 - 11,692,199 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2411,476,448 - 11,510,591 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02412,068,191 - 12,103,901 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2412,068,190 - 12,103,063 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12411,675,811 - 11,709,929 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02411,775,152 - 11,810,791 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02412,117,643 - 12,153,536 (+)NCBIUU_Cfam_GSD_1.0
Jag1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640160,426,337 - 160,462,907 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364858,857,669 - 8,895,315 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364858,857,688 - 8,894,270 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
JAG1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1719,591,259 - 19,629,641 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11719,591,248 - 19,629,659 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21722,066,099 - 22,104,519 (-)NCBISscrofa10.2Sscrofa10.2susScr3
JAG1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1227,484,699 - 27,521,108 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl227,484,760 - 27,522,504 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607117,075,556 - 17,111,911 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Jag1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474111,647,463 - 11,683,488 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474111,647,723 - 11,683,137 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in JAG1
2306 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000214.3(JAG1):c.3039T>C (p.His1013=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000551235]|Alagille syndrome due to a JAG1 point mutation [RCV002497156] Chr20:10641122 [GRCh38]
Chr20:10621770 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3517C>A (p.Gln1173Lys) single nucleotide variant not provided [RCV000520609] Chr20:10639638 [GRCh38]
Chr20:10620286 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1713dup (p.Cys572fs) duplication Alagille syndrome due to a JAG1 point mutation [RCV000558408] Chr20:10647966..10647967 [GRCh38]
Chr20:10628614..10628615 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2639_2640del (p.Asp879_Cys880insTer) deletion Alagille syndrome due to a JAG1 point mutation [RCV000008054] Chr20:10641825..10641826 [GRCh38]
Chr20:10622473..10622474 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2916+1G>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000008055] Chr20:10641459 [GRCh38]
Chr20:10622107 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.693_694del (p.Arg231fs) microsatellite Alagille syndrome due to a JAG1 point mutation [RCV000008056]|not provided [RCV000223264] Chr20:10658468..10658469 [GRCh38]
Chr20:10639116..10639117 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1656del (p.Glu553fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV000008057] Chr20:10648024 [GRCh38]
Chr20:10628672 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2096_2100del (p.Gly699fs) microsatellite Alagille syndrome due to a JAG1 point mutation [RCV000008060]|Alagille syndrome due to a JAG1 point mutation [RCV005031419]|not provided [RCV000255046] Chr20:10645369..10645373 [GRCh38]
Chr20:10626017..10626021 [GRCh37]
Chr20:20p12.2		 pathogenic
JAG1, 1-BP INS, 1618C insertion Alagille syndrome 1 [RCV000008061] Chr20:20p12 pathogenic
JAG1, 1-BP INS, 684G insertion Alagille syndrome due to a JAG1 point mutation [RCV000008062] Chr20:20p12 pathogenic
JAG1, 2-BP DEL, 1485CT deletion Alagille syndrome 1 [RCV000008066] Chr20:20p12 pathogenic
JAG1, 1329, T-G, +2 single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000008067] Chr20:20p12 pathogenic
NM_000214.3(JAG1):c.702C>T (p.Cys234=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002060982]|Cardiovascular phenotype [RCV002369992]|not provided [RCV000729815] Chr20:10656451 [GRCh38]
Chr20:10637099 [GRCh37]
Chr20:20p12.2		 benign|likely benign|uncertain significance
NM_000214.3(JAG1):c.314A>G (p.Asn105Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002493318]|not provided [RCV000729848] Chr20:10672774 [GRCh38]
Chr20:10653422 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.82-2A>G single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003319416]|not provided [RCV000729851] Chr20:10673008 [GRCh38]
Chr20:10653656 [GRCh37]
Chr20:20p12.2		 pathogenic|likely pathogenic
NM_000214.3(JAG1):c.931A>G (p.Thr311Ala) single nucleotide variant not provided [RCV000728195] Chr20:10652206 [GRCh38]
Chr20:10632854 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2350A>G (p.Asn784Asp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001037675]|Alagille syndrome due to a JAG1 point mutation [RCV005027897]|Cardiovascular phenotype [RCV002442550]|not provided [RCV000728261] Chr20:10644379 [GRCh38]
Chr20:10625027 [GRCh37]
Chr20:20p12.2		 benign|likely benign|uncertain significance
NM_000214.3(JAG1):c.1393C>T (p.Arg465Trp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001339960]|Alagille syndrome due to a JAG1 point mutation [RCV002507284]|Cardiovascular phenotype [RCV002388358]|not provided [RCV000728269] Chr20:10649063 [GRCh38]
Chr20:10629711 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2728_2748del (p.Glu910_Ser916del) deletion not provided [RCV000728290] Chr20:10641628..10641648 [GRCh38]
Chr20:10622276..10622296 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1704C>T (p.Arg568=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001862177]|Cardiovascular phenotype [RCV002397506]|not provided [RCV000729542] Chr20:10647976 [GRCh38]
Chr20:10628624 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.388-10T>A single nucleotide variant not provided [RCV000728976] Chr20:10664024 [GRCh38]
Chr20:10644672 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1528C>T (p.Gln510Ter) single nucleotide variant not provided [RCV000729074] Chr20:10648590 [GRCh38]
Chr20:10629238 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.886+5G>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000543645] Chr20:10652463 [GRCh38]
Chr20:10633111 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.59T>C (p.Leu20Pro) single nucleotide variant Arteriohepatic dysplasia [RCV005002151]|Cardiovascular phenotype [RCV002352239]|not provided [RCV000728696] Chr20:10673472 [GRCh38]
Chr20:10654120 [GRCh37]
Chr20:20p12.2		 uncertain significance|not provided
NM_000214.3(JAG1):c.1971C>T (p.Asp657=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002067089]|Cardiovascular phenotype [RCV002422625]|JAG1-related disorder [RCV004547921]|not provided [RCV000728702] Chr20:10645999 [GRCh38]
Chr20:10626647 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.1394G>A (p.Arg465Gln) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001862156]|Alagille syndrome due to a JAG1 point mutation [RCV005027899]|not provided [RCV000728708] Chr20:10649062 [GRCh38]
Chr20:10629710 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1325G>A (p.Trp442Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003509594]|not provided [RCV000728711] Chr20:10649545 [GRCh38]
Chr20:10630193 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2859T>C (p.Tyr953=) single nucleotide variant Cardiovascular phenotype [RCV004629316]|not provided [RCV000729177] Chr20:10641517 [GRCh38]
Chr20:10622165 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.3507G>C (p.Arg1169=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001523115]|Alagille syndrome due to a JAG1 point mutation [RCV002493311]|Cardiovascular phenotype [RCV002458338]|Isolated Nonsyndromic Congenital Heart Disease [RCV001142856]|not provided [RCV000841838]|not specified [RCV000729191] Chr20:10639648 [GRCh38]
Chr20:10620296 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.2805G>A (p.Glu935=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003619719]|not provided [RCV000729409] Chr20:10641571 [GRCh38]
Chr20:10622219 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.1720+3A>G single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000549786] Chr20:10647957 [GRCh38]
Chr20:10628605 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000132568]|Alagille syndrome due to a JAG1 point mutation [RCV002498649]|Isolated Nonsyndromic Congenital Heart Disease [RCV001138646]|not provided [RCV000597619] Chr20:10648607 [GRCh38]
Chr20:10629255 [GRCh37]
Chr20:20p12.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000214.3(JAG1):c.765C>T (p.Tyr255=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001516693]|Cardiovascular phenotype [RCV000254531]|Deafness, congenital heart defects, and posterior embryotoxon [RCV001730575]|Isolated Nonsyndromic Congenital Heart Disease [RCV000293317]|Tetralogy of Fallot [RCV001730574]|not provided [RCV000132569]|not specified [RCV000199026] Chr20:10652589 [GRCh38]
Chr20:10633237 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.101A>C (p.Gln34Pro) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000546018]|Arteriohepatic dysplasia [RCV005002145]|not provided [RCV000591855] Chr20:10672987 [GRCh38]
Chr20:10653635 [GRCh37]
Chr20:20p12.2		 uncertain significance|not provided
NM_000214.3(JAG1):c.233G>A (p.Cys78Tyr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001007648]|not provided [RCV000594072] Chr20:10672855 [GRCh38]
Chr20:10653503 [GRCh37]
Chr20:20p12.2		 pathogenic|uncertain significance|not provided
NM_000214.3(JAG1):c.550C>T (p.Arg184Cys) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000008058]|Alagille syndrome due to a JAG1 point mutation [RCV005031418]|JAG1-related disorder [RCV004739294]|not provided [RCV000729764] Chr20:10658612 [GRCh38]
Chr20:10639260 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.551G>A (p.Arg184His) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000008059]|Alagille syndrome due to a JAG1 point mutation [RCV002476943]|Arteriohepatic dysplasia [RCV005002140]|not provided [RCV000725979] Chr20:10658611 [GRCh38]
Chr20:10639259 [GRCh37]
Chr20:20p12.2		 pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000214.3(JAG1):c.821G>A (p.Gly274Asp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000555146]|Tetralogy of Fallot [RCV000008063] Chr20:10652533 [GRCh38]
Chr20:10633181 [GRCh37]
Chr20:20p12.2		 pathogenic|likely pathogenic
NM_000214.3(JAG1):c.110T>C (p.Leu37Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000008064]|Arteriohepatic dysplasia [RCV005002141] Chr20:10672978 [GRCh38]
Chr20:10653626 [GRCh37]
Chr20:20p12.2		 pathogenic|not provided
NM_000214.3(JAG1):c.701G>A (p.Cys234Tyr) single nucleotide variant Deafness, congenital heart defects, and posterior embryotoxon [RCV000008065] Chr20:10656452 [GRCh38]
Chr20:10637100 [GRCh37]
Chr20:20p12.2		 pathogenic|likely pathogenic
NM_000214.3(JAG1):c.2713C>T (p.His905Tyr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001228935] Chr20:10641663 [GRCh38]
Chr20:10622311 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.2214A>C (p.Thr738=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001510860]|Cardiovascular phenotype [RCV000251451]|Isolated Nonsyndromic Congenital Heart Disease [RCV000287430]|not provided [RCV001723602]|not specified [RCV000035328] Chr20:10645156 [GRCh38]
Chr20:10625804 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.2382C>T (p.Ser794=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000473408]|Cardiovascular phenotype [RCV000621245]|Isolated Nonsyndromic Congenital Heart Disease [RCV000309375]|not provided [RCV004716915]|not specified [RCV000035329] Chr20:10643854 [GRCh38]
Chr20:10624502 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.2612C>G (p.Pro871Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001510859]|Cardiovascular phenotype [RCV000246517]|Isolated Nonsyndromic Congenital Heart Disease [RCV001141107]|not provided [RCV001529886]|not specified [RCV000035330] Chr20:10641853 [GRCh38]
Chr20:10641853..10641854 [GRCh38]
Chr20:10622501 [GRCh37]
Chr20:10622501..10622502 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.267G>A (p.Gly89=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001521586]|Alagille syndrome due to a JAG1 point mutation [RCV002490472]|Cardiovascular phenotype [RCV000620175]|Isolated Nonsyndromic Congenital Heart Disease [RCV000343444]|not provided [RCV001723603]|not specified [RCV000035331] Chr20:10672821 [GRCh38]
Chr20:10653469 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.270G>T (p.Gly90=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000458444]|Isolated Nonsyndromic Congenital Heart Disease [RCV000286199]|not provided [RCV001689583]|not specified [RCV000035332] Chr20:10672818 [GRCh38]
Chr20:10653466 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.3528C>T (p.Tyr1176=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001516691]|Cardiovascular phenotype [RCV000245407]|Deafness, congenital heart defects, and posterior embryotoxon [RCV001730480]|Isolated Nonsyndromic Congenital Heart Disease [RCV000359120]|Tetralogy of Fallot [RCV001730479]|not provided [RCV004716916]|not specified [RCV000035333] Chr20:10639627 [GRCh38]
Chr20:10620275 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.3583A>G (p.Asn1195Asp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001056389]|Cardiovascular phenotype [RCV004018738]|not specified [RCV000035334] Chr20:10639572 [GRCh38]
Chr20:10620220 [GRCh37]
Chr20:20p12.2		 benign|uncertain significance
NM_000214.3(JAG1):c.436G>A (p.Val146Ile) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000645023]|Cardiovascular phenotype [RCV002326723]|Isolated Nonsyndromic Congenital Heart Disease [RCV000332531]|not provided [RCV004716917]|not specified [RCV000035335] Chr20:10663966 [GRCh38]
Chr20:10644614 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.588C>T (p.Cys196=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001522142]|Cardiovascular phenotype [RCV000247154]|Isolated Nonsyndromic Congenital Heart Disease [RCV000393076]|not provided [RCV000125427]|not specified [RCV000035336] Chr20:10658574 [GRCh38]
Chr20:10639222 [GRCh37]
Chr20:20p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000214.3(JAG1):c.744A>G (p.Pro248=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001513157]|Cardiovascular phenotype [RCV000618285]|Isolated Nonsyndromic Congenital Heart Disease [RCV000335827]|not provided [RCV001723604]|not specified [RCV000035337] Chr20:10656409 [GRCh38]
Chr20:10637057 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.924C>T (p.Asn308=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000461736]|Cardiovascular phenotype [RCV000250849]|Isolated Nonsyndromic Congenital Heart Disease [RCV000383370]|not provided [RCV001723605]|not specified [RCV000035338] Chr20:10652213 [GRCh38]
Chr20:10632861 [GRCh37]
Chr20:20p12.2		 benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3 copy number gain See cases [RCV000051227] Chr20:89939..25697564 [GRCh38]
Chr20:70580..25678200 [GRCh37]
Chr20:18580..25626200 [NCBI36]
Chr20:20p13-11.21		 pathogenic
GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3 copy number gain See cases [RCV000051041] Chr20:89939..19146279 [GRCh38]
Chr20:70580..19126923 [GRCh37]
Chr20:18580..19074923 [NCBI36]
Chr20:20p13-11.23		 pathogenic
GRCh38/hg38 20p12.3-12.2(chr20:7566644-11028694)x1 copy number loss See cases [RCV000052739] Chr20:7566644..11028694 [GRCh38]
Chr20:7547291..11009342 [GRCh37]
Chr20:7495291..10957342 [NCBI36]
Chr20:20p12.3-12.2		 pathogenic
GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3 copy number gain See cases [RCV000052995] Chr20:89939..19071495 [GRCh38]
Chr20:70580..19052139 [GRCh37]
Chr20:18580..19000139 [NCBI36]
Chr20:20p13-11.23		 pathogenic
GRCh38/hg38 20p13-11.22(chr20:89939-21787252)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052996]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052996]|See cases [RCV000052996] Chr20:89939..21787252 [GRCh38]
Chr20:70580..21767890 [GRCh37]
Chr20:18580..21715890 [NCBI36]
Chr20:20p13-11.22		 pathogenic
GRCh38/hg38 20p13-12.1(chr20:89939-14818511)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052997]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052997]|See cases [RCV000052997] Chr20:89939..14818511 [GRCh38]
Chr20:70580..14799157 [GRCh37]
Chr20:18580..14747157 [NCBI36]
Chr20:20p13-12.1		 pathogenic
GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3 copy number gain See cases [RCV000052999] Chr20:9811433..39316956 [GRCh38]
Chr20:9792081..37945599 [GRCh37]
Chr20:9740081..37379013 [NCBI36]
Chr20:20p12.2-q12		 pathogenic
NM_000214.3(JAG1):c.1326G>A (p.Trp442Ter) single nucleotide variant not provided [RCV000173659] Chr20:10649544 [GRCh38]
Chr20:10630192 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3140C>T (p.Ser1047Leu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002599493] Chr20:10640842 [GRCh38]
Chr20:10621490 [GRCh37]
Chr20:10569490 [NCBI36]
Chr20:20p12.2		 likely benign|not provided
NM_000214.2(JAG1):c.2691T>A (p.Cys897Ter) single nucleotide variant Malignant melanoma [RCV000072525] Chr20:10641685 [GRCh38]
Chr20:10622333 [GRCh37]
Chr20:10570333 [NCBI36]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.1609G>A (p.Gly537Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001352536]|Cardiovascular phenotype [RCV002388163]|not provided [RCV000657990] Chr20:10648071 [GRCh38]
Chr20:10628719 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.3417T>C (p.Tyr1139=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001516692]|Cardiovascular phenotype [RCV000250727]|Deafness, congenital heart defects, and posterior embryotoxon [RCV001730566]|Isolated Nonsyndromic Congenital Heart Disease [RCV000270345]|JAG1-related disorder [RCV004551219]|Tetralogy of Fallot [RCV001730565]|not provided [RCV004717022]|not specified [RCV000125430] Chr20:10639738 [GRCh38]
Chr20:10620386 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.1999+173A>G single nucleotide variant not provided [RCV001766314] Chr20:10645798 [GRCh38]
Chr20:10626446 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1321G>A (p.Gly441Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001349261]|Alagille syndrome due to a JAG1 point mutation [RCV005023075]|Cardiovascular phenotype [RCV002384487]|not provided [RCV003130490] Chr20:10649549 [GRCh38]
Chr20:10630197 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.53T>G (p.Leu18Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003236633]|Arteriohepatic dysplasia [RCV005002184] Chr20:10673478 [GRCh38]
Chr20:10654126 [GRCh37]
Chr20:20p12.2		 likely pathogenic|not provided
NM_000214.3(JAG1):c.1207C>T (p.Gln403Ter) single nucleotide variant not provided [RCV000180477] Chr20:10650274 [GRCh38]
Chr20:10630922 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3308_3309delinsAC (p.Thr1103Asn) indel not provided [RCV000593947] Chr20:10639846..10639847 [GRCh38]
Chr20:10620494..10620495 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.806C>T (p.Pro269Leu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002514092]|Inborn genetic diseases [RCV000190813] Chr20:10652548 [GRCh38]
Chr20:10633196 [GRCh37]
Chr20:20p12.2		 pathogenic|likely pathogenic|uncertain significance
NM_000214.3(JAG1):c.2342dup (p.Asn782fs) duplication Alagille syndrome due to a JAG1 point mutation [RCV000256399] Chr20:10644864..10644865 [GRCh38]
Chr20:10625512..10625513 [GRCh37]
Chr20:20p12.2		 pathogenic
GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3 copy number gain See cases [RCV000133996] Chr20:80106..30227427 [GRCh38]
Chr20:60747..29462103 [GRCh37]
Chr20:8747..28075764 [NCBI36]
Chr20:20p13-q11.1		 pathogenic
GRCh38/hg38 20p12.2-12.1(chr20:9550975-12083434)x1 copy number loss See cases [RCV000135357] Chr20:9550975..12083434 [GRCh38]
Chr20:9531622..12064082 [GRCh37]
Chr20:9479622..12012082 [NCBI36]
Chr20:20p12.2-12.1		 pathogenic
GRCh38/hg38 20p12.3-12.1(chr20:6617695-13392559)x1 copy number loss See cases [RCV000135292] Chr20:6617695..13392559 [GRCh38]
Chr20:6598342..13373206 [GRCh37]
Chr20:6546342..13321206 [NCBI36]
Chr20:20p12.3-12.1		 pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33		 pathogenic
GRCh38/hg38 20p12.2-12.1(chr20:9290612-14648536)x3 copy number gain See cases [RCV000138042] Chr20:9290612..14648536 [GRCh38]
Chr20:9271259..14629182 [GRCh37]
Chr20:9219259..14577182 [NCBI36]
Chr20:20p12.2-12.1		 uncertain significance
GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3 copy number gain See cases [RCV000138677] Chr20:80106..13029401 [GRCh38]
Chr20:60747..13010049 [GRCh37]
Chr20:8747..12958049 [NCBI36]
Chr20:20p13-12.1		 pathogenic
GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3 copy number gain See cases [RCV000142017] Chr20:80927..26324843 [GRCh38]
Chr20:61568..26305479 [GRCh37]
Chr20:9568..26253479 [NCBI36]
Chr20:20p13-11.1		 pathogenic
GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3 copy number gain See cases [RCV000143426] Chr20:80928..18688031 [GRCh38]
Chr20:61569..18668675 [GRCh37]
Chr20:9569..18616675 [NCBI36]
Chr20:20p13-11.23		 pathogenic
NM_000214.3(JAG1):c.2122_2125del (p.Gln708fs) microsatellite Alagille syndrome due to a JAG1 point mutation [RCV000154602]|Arteriohepatic dysplasia [RCV000844632]|Arteriohepatic dysplasia [RCV001328149]|JAG1-related disorder [RCV004551336]|Tetralogy of Fallot [RCV001197474]|not provided [RCV000199484] Chr20:10645245..10645248 [GRCh38]
Chr20:10625893..10625896 [GRCh37]
Chr20:20p12.2		 pathogenic|likely pathogenic
NM_000214.3(JAG1):c.3417= (p.Tyr1139=) single nucleotide variant not specified [RCV000150844] Chr20:10639738 [GRCh38]
Chr20:10620386 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.765= (p.Tyr255=) single nucleotide variant not specified [RCV000150845] Chr20:10652589 [GRCh38]
Chr20:10633237 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.2559C>T (p.Ala853=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000226892]|Alagille syndrome due to a JAG1 point mutation [RCV002498730]|Cardiovascular phenotype [RCV002426731]|not provided [RCV001582625]|not specified [RCV000153387] Chr20:10642501 [GRCh38]
Chr20:10623149 [GRCh37]
Chr20:20p12.2		 benign|likely benign|uncertain significance
NM_000214.2(JAG1):c.2096_2100delGAAAG (p.Gly699Aspfs) deletion Alagille syndrome 1 [RCV000537315]|not provided [RCV000255046] Chr20:10645369..10645373 [GRCh38]
Chr20:10626017..10626021 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.601C>T (p.Arg201Cys) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000697814]|JAG1-related disorder [RCV004553002]|not provided [RCV000178063]|not specified [RCV001175471] Chr20:10658561 [GRCh38]
Chr20:10639209 [GRCh37]
Chr20:20p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000214.3(JAG1):c.1101C>T (p.Thr367=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002054143]|Cardiovascular phenotype [RCV002426861]|JAG1-related disorder [RCV004553021]|not provided [RCV000180112] Chr20:10651600 [GRCh38]
Chr20:10632248 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.3308C>T (p.Thr1103Ile) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002516710]|Alagille syndrome due to a JAG1 point mutation [RCV005025282]|Cardiovascular phenotype [RCV004992051]|not provided [RCV000176613] Chr20:10639847 [GRCh38]
Chr20:10620495 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.2072G>A (p.Cys691Tyr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002260566] Chr20:10645397 [GRCh38]
Chr20:10626045 [GRCh37]
Chr20:20p12.2		 pathogenic|uncertain significance
NM_000214.3(JAG1):c.2257dup (p.Cys753fs) duplication not provided [RCV000200278] Chr20:10644949..10644950 [GRCh38]
Chr20:10625597..10625598 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1627C>T (p.Arg543Cys) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001054389]|not provided [RCV000200413] Chr20:10648053 [GRCh38]
Chr20:10628701 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.1339T>C (p.Cys447Arg) single nucleotide variant not provided [RCV000196545]|not specified [RCV000223845] Chr20:10649531 [GRCh38]
Chr20:10630179 [GRCh37]
Chr20:20p12.2		 likely pathogenic|uncertain significance
NM_000214.3(JAG1):c.1198_1199dup (p.Pro401fs) microsatellite Alagille syndrome due to a JAG1 point mutation [RCV001853158]|not provided [RCV000200487] Chr20:10650281..10650282 [GRCh38]
Chr20:10630929..10630930 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.797del (p.Ile266fs) deletion not provided [RCV000200567] Chr20:10652557 [GRCh38]
Chr20:10633205 [GRCh37]
Chr20:20p12.2		 pathogenic|likely pathogenic
NM_000214.3(JAG1):c.440-15T>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001520997]|Deafness, congenital heart defects, and posterior embryotoxon [RCV001730584]|Isolated Nonsyndromic Congenital Heart Disease [RCV000362940]|Tetralogy of Fallot [RCV001730583]|not provided [RCV004717082]|not specified [RCV000196823] Chr20:10658737 [GRCh38]
Chr20:10639385 [GRCh37]
Chr20:20p12.2		 pathogenic|benign
NM_000214.2(JAG1):c.2749T>G (p.Cys917Gly) single nucleotide variant not provided [RCV000196919] Chr20:10641627 [GRCh38]
Chr20:10622275 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2230C>T (p.Arg744Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001038520]|Alagille syndrome due to a JAG1 point mutation [RCV005025314]|JAG1-related disorder [RCV004553068]|not provided [RCV000196949] Chr20:10644977 [GRCh38]
Chr20:10625625 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2465del (p.Asn822fs) deletion not provided [RCV000197026] Chr20:10642595 [GRCh38]
Chr20:10623243 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1826C>T (p.Ser609Leu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001062019]|Isolated Nonsyndromic Congenital Heart Disease [RCV000351515]|JAG1-related disorder [RCV004553067]|not provided [RCV000197189]|not specified [RCV002247622] Chr20:10646998 [GRCh38]
Chr20:10627646 [GRCh37]
Chr20:20p12.2		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000214.3(JAG1):c.1205dup (p.Gln403fs) duplication Alagille syndrome due to a JAG1 point mutation [RCV000008061]|not provided [RCV000197265] Chr20:10650275..10650276 [GRCh38]
Chr20:10630923..10630924 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.974_975del (p.Pro325fs) deletion not provided [RCV000197305] Chr20:10652162..10652163 [GRCh38]
Chr20:10632810..10632811 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.894T>C (p.Asn298=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000861980]|Arteriohepatic dysplasia [RCV005002143]|Cardiovascular phenotype [RCV002374465]|Isolated Nonsyndromic Congenital Heart Disease [RCV000294964]|JAG1-related disorder [RCV004547697]|not provided [RCV001699421]|not specified [RCV000390030] Chr20:10652243 [GRCh38]
Chr20:10632891 [GRCh37]
Chr20:20p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000214.3(JAG1):c.626A>G (p.His209Arg) single nucleotide variant not provided [RCV004816325] Chr20:10658536 [GRCh38]
Chr20:10639184 [GRCh37]
Chr20:20p12.2		 likely pathogenic|uncertain significance
NM_000214.3(JAG1):c.3008_3009dup (p.Pro1004fs) duplication not provided [RCV000197674] Chr20:10641151..10641152 [GRCh38]
Chr20:10621799..10621800 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3G>A (p.Met1Ile) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001210761]|not provided [RCV000728541] Chr20:10673528 [GRCh38]
Chr20:10654176 [GRCh37]
Chr20:20p12.2		 pathogenic|likely pathogenic
NM_000214.3(JAG1):c.-6_24del (p.Met1_Gly8del) deletion not provided [RCV000197916] Chr20:10673507..10673536 [GRCh38]
Chr20:10654155..10654184 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2414G>A (p.Arg805Gln) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001938620]|Cardiovascular phenotype [RCV002449592] Chr20:10643822 [GRCh38]
Chr20:10624470 [GRCh37]
Chr20:20p12.2		 likely pathogenic|uncertain significance
NM_000214.2(JAG1):c.3200-2A>G single nucleotide variant not provided [RCV000198129] Chr20:10639957 [GRCh38]
Chr20:10620605 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1369C>T (p.Gln457Ter) single nucleotide variant Cardiovascular phenotype [RCV002383649] Chr20:10649087 [GRCh38]
Chr20:10629735 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.910C>T (p.Gln304Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000817591]|not provided [RCV000198219] Chr20:10652227 [GRCh38]
Chr20:10632875 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1047dup (p.Ser350fs) duplication not provided [RCV000198272] Chr20:10651653..10651654 [GRCh38]
Chr20:10632301..10632302 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.270dup (p.Pro91fs) duplication Alagille syndrome due to a JAG1 point mutation [RCV002284195]|not provided [RCV000198317] Chr20:10672817..10672818 [GRCh38]
Chr20:10653465..10653466 [GRCh37]
Chr20:20p12.2		 pathogenic|likely pathogenic
NM_000214.3(JAG1):c.587_588delinsT (p.Cys196fs) indel not provided [RCV000198520] Chr20:10658574..10658575 [GRCh38]
Chr20:10639222..10639223 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.2(JAG1):c.2026T>C (p.Cys676Arg) single nucleotide variant not provided [RCV000198719] Chr20:10645443 [GRCh38]
Chr20:10626091 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.2(JAG1):c.2917-8C>A single nucleotide variant not specified [RCV000199112] Chr20:10641252 [GRCh38]
Chr20:10621900 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000755751]|Alagille syndrome due to a JAG1 point mutation [RCV002492895]|Cardiovascular phenotype [RCV000617476]|Isolated Nonsyndromic Congenital Heart Disease [RCV001138547]|not provided [RCV000428738]|not specified [RCV000195553] Chr20:10641566 [GRCh38]
Chr20:10622214 [GRCh37]
Chr20:20p12.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000214.3(JAG1):c.3308del (p.Thr1103fs) deletion not specified [RCV000195681] Chr20:10639847 [GRCh38]
Chr20:10620495 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2698C>T (p.Arg900Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001384081]|Atypical coarctation of aorta [RCV000845198]|not provided [RCV002251338] Chr20:10641678 [GRCh38]
Chr20:10622326 [GRCh37]
Chr20:20p12.2		 pathogenic|likely pathogenic
NM_000214.3(JAG1):c.3067del (p.Asp1023fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV004760426]|not provided [RCV000199206] Chr20:10640915 [GRCh38]
Chr20:10621563 [GRCh37]
Chr20:20p12.2		 pathogenic|likely pathogenic
NM_000214.3(JAG1):c.2619_2620del (p.Ala874fs) deletion not provided [RCV000199283] Chr20:10641845..10641846 [GRCh38]
Chr20:10622493..10622494 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.909T>C (p.His303=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000861319]|Alagille syndrome due to a JAG1 point mutation [RCV002478684]|Cardiovascular phenotype [RCV000249515]|Isolated Nonsyndromic Congenital Heart Disease [RCV000382364]|not provided [RCV004584626]|not specified [RCV000195826] Chr20:10652228 [GRCh38]
Chr20:10632876 [GRCh37]
Chr20:20p12.2		 pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_000214.2(JAG1):c.2997C>G (p.Tyr999Ter) single nucleotide variant not provided [RCV000195918] Chr20:10641164 [GRCh38]
Chr20:10621812 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.2(JAG1):c.2732G>C (p.Cys911Ser) single nucleotide variant not provided [RCV000195958] Chr20:10641644 [GRCh38]
Chr20:10622292 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.1946_1951delinsCTCC (p.Asn649fs) indel not provided [RCV000199531] Chr20:10646019..10646024 [GRCh38]
Chr20:10626667..10626672 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3289C>T (p.Arg1097Trp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001039157]|Alagille syndrome due to a JAG1 point mutation [RCV002492896]|JAG1-related disorder [RCV004739579]|not provided [RCV000782262]|not specified [RCV003230447] Chr20:10639866 [GRCh38]
Chr20:10620514 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.544C>T (p.Gln182Ter) single nucleotide variant not provided [RCV000195999] Chr20:10658618 [GRCh38]
Chr20:10639266 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2948del (p.Glu982_Leu983insTer) deletion not provided [RCV000196035] Chr20:10641213 [GRCh38]
Chr20:10621861 [GRCh37]
Chr20:20p12.2		 pathogenic|likely pathogenic
NM_000214.3(JAG1):c.192dup (p.Lys65fs) duplication not provided [RCV000196170] Chr20:10672895..10672896 [GRCh38]
Chr20:10653543..10653544 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2106C>A (p.Cys702Ter) single nucleotide variant not provided [RCV000199681] Chr20:10645363 [GRCh38]
Chr20:10626011 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1156G>A (p.Gly386Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000645012]|JAG1-related disorder [RCV004553066]|not provided [RCV001529686] Chr20:10650325 [GRCh38]
Chr20:10630973 [GRCh37]
Chr20:20p12.2		 pathogenic|likely pathogenic
NM_000214.3(JAG1):c.537dup (p.Glu180Ter) duplication not provided [RCV000196332] Chr20:10658624..10658625 [GRCh38]
Chr20:10639272..10639273 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2924_2925dup (p.Thr976fs) duplication not provided [RCV000196410] Chr20:10641235..10641236 [GRCh38]
Chr20:10621883..10621884 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2322G>A (p.Trp774Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001853159]|not provided [RCV000733387] Chr20:10644885 [GRCh38]
Chr20:10625533 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.439+1G>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001853157]|Atypical coarctation of aorta [RCV000845195]|JAG1-related disorder [RCV004553065]|not provided [RCV000199991] Chr20:10663962 [GRCh38]
Chr20:10644610 [GRCh37]
Chr20:20p12.2		 pathogenic|likely pathogenic
NM_000214.3(JAG1):c.664del (p.Glu222fs) deletion not provided [RCV000200092] Chr20:10658498 [GRCh38]
Chr20:10639146 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.7dup (p.Ser3fs) duplication not provided [RCV000200125] Chr20:10673523..10673524 [GRCh38]
Chr20:10654171..10654172 [GRCh37]
Chr20:20p12.2		 pathogenic|likely pathogenic
NM_000214.3(JAG1):c.2766C>T (p.Asp922=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000230866]|Cardiovascular phenotype [RCV000246570]|Isolated Nonsyndromic Congenital Heart Disease [RCV000390016]|not provided [RCV004718099]|not specified [RCV000200156] Chr20:10641610 [GRCh38]
Chr20:10622258 [GRCh37]
Chr20:20p12.2		 pathogenic|likely pathogenic|benign|likely benign
NM_000214.3(JAG1):c.2329C>T (p.Pro777Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001083154]|Isolated Nonsyndromic Congenital Heart Disease [RCV000369805]|not provided [RCV000726296]|not specified [RCV000366468] Chr20:10644878 [GRCh38]
Chr20:10625526 [GRCh37]
Chr20:20p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000214.3(JAG1):c.3329A>C (p.Asn1110Thr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001052188]|Cardiovascular phenotype [RCV002321960]|Isolated Nonsyndromic Congenital Heart Disease [RCV000276199]|not provided [RCV000726021] Chr20:10639826 [GRCh38]
Chr20:10620474 [GRCh37]
Chr20:20p12.2		 benign|likely benign|uncertain significance
NM_000214.3(JAG1):c.2530_2552delinsGCACAT (p.Cys844fs) indel not provided [RCV000263651] Chr20:10642508..10642530 [GRCh38]
Chr20:10623156..10623178 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1920C>T (p.Asn640=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001088552]|Cardiovascular phenotype [RCV002411158]|Isolated Nonsyndromic Congenital Heart Disease [RCV000289604]|not provided [RCV000321152] Chr20:10646050 [GRCh38]
Chr20:10626698 [GRCh37]
Chr20:20p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000214.3(JAG1):c.2073T>C (p.Cys691=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000525761]|Alagille syndrome due to a JAG1 point mutation [RCV002502149]|Cardiovascular phenotype [RCV002418131]|Isolated Nonsyndromic Congenital Heart Disease [RCV000291006]|not provided [RCV001683165]|not specified [RCV000306772] Chr20:10645396 [GRCh38]
Chr20:10626044 [GRCh37]
Chr20:20p12.2		 benign|likely benign|uncertain significance
NM_000214.3(JAG1):c.148C>T (p.Gln50Ter) single nucleotide variant not provided [RCV000255391] Chr20:10672940 [GRCh38]
Chr20:10653588 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3048+1G>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001859478]|not provided [RCV000255615] Chr20:10641112 [GRCh38]
Chr20:10621760 [GRCh37]
Chr20:20p12.2		 pathogenic|uncertain significance
NM_000214.3(JAG1):c.2385del (p.Thr796fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV000757958] Chr20:10643851 [GRCh38]
Chr20:10624499 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.2312A>G (p.Lys771Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001322306]|Alagille syndrome due to a JAG1 point mutation [RCV002485443]|not provided [RCV000223517] Chr20:10644895 [GRCh38]
Chr20:10625543 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.1485_1486del (p.Cys496fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV000008066]|Tetralogy of Fallot [RCV003998613]|not provided [RCV000223536] Chr20:10648632..10648633 [GRCh38]
Chr20:10629280..10629281 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2418C>A (p.Cys806Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000468229]|not provided [RCV000220022] Chr20:10643818 [GRCh38]
Chr20:10624466 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.269_270del (p.Gly90fs) deletion not provided [RCV000213634] Chr20:10672818..10672819 [GRCh38]
Chr20:10653466..10653467 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2666G>A (p.Arg889Gln) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000476409]|Alagille syndrome due to a JAG1 point mutation [RCV000765486]|Cardiovascular phenotype [RCV002429080]|not provided [RCV000220286] Chr20:10641799 [GRCh38]
Chr20:10622447 [GRCh37]
Chr20:20p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000214.3(JAG1):c.1716_1717del (p.Cys572_Glu573delinsTer) microsatellite not provided [RCV000220337] Chr20:10647963..10647964 [GRCh38]
Chr20:10628611..10628612 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.860A>G (p.Asn287Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001369966]|Alagille syndrome due to a JAG1 point mutation [RCV002485440]|Cardiovascular phenotype [RCV002444870]|not provided [RCV000213865] Chr20:10652494 [GRCh38]
Chr20:10633142 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.2566C>T (p.Gln856Ter) single nucleotide variant not provided [RCV000218214] Chr20:10642494 [GRCh38]
Chr20:10623142 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.871C>T (p.Gln291Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002516193]|not provided [RCV000220558] Chr20:10652483 [GRCh38]
Chr20:10633131 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.765C>G (p.Tyr255Ter) single nucleotide variant not provided [RCV000214085] Chr20:10652589 [GRCh38]
Chr20:10633237 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.62T>C (p.Leu21Pro) single nucleotide variant Arteriohepatic dysplasia [RCV005002142]|Cardiovascular phenotype [RCV002365165]|not provided [RCV000218438] Chr20:10673469 [GRCh38]
Chr20:10654117 [GRCh37]
Chr20:20p12.2		 likely pathogenic|uncertain significance|not provided
NM_000214.3(JAG1):c.766G>C (p.Gly256Arg) single nucleotide variant Arteriohepatic dysplasia [RCV005002536] Chr20:10652588 [GRCh38]
Chr20:10633236 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.771G>C (p.Trp257Cys) single nucleotide variant Arteriohepatic dysplasia [RCV005002537] Chr20:10652583 [GRCh38]
Chr20:10633231 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.782A>T (p.Tyr261Phe) single nucleotide variant Arteriohepatic dysplasia [RCV005002539] Chr20:10652572 [GRCh38]
Chr20:10633220 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.785G>C (p.Cys262Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002541] Chr20:10652569 [GRCh38]
Chr20:10633217 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.822C>A (p.Gly274=) single nucleotide variant Arteriohepatic dysplasia [RCV005002548] Chr20:10652532 [GRCh38]
Chr20:10633180 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.842A>C (p.Gln281Pro) single nucleotide variant Arteriohepatic dysplasia [RCV005002551] Chr20:10652512 [GRCh38]
Chr20:10633160 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.856A>G (p.Thr286Ala) single nucleotide variant Arteriohepatic dysplasia [RCV005002553] Chr20:10652498 [GRCh38]
Chr20:10633146 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.869G>T (p.Gly290Val) single nucleotide variant Arteriohepatic dysplasia [RCV005002557] Chr20:10652485 [GRCh38]
Chr20:10633133 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.887A>T (p.Asp296Val) single nucleotide variant Arteriohepatic dysplasia [RCV005002564] Chr20:10652250 [GRCh38]
Chr20:10632898 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.893A>C (p.Asn298Thr) single nucleotide variant Arteriohepatic dysplasia [RCV005002569] Chr20:10652244 [GRCh38]
Chr20:10632892 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.151A>T (p.Asn51Tyr) single nucleotide variant Arteriohepatic dysplasia [RCV005002589] Chr20:10672937 [GRCh38]
Chr20:10653585 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.220T>A (p.Tyr74Asn) single nucleotide variant Arteriohepatic dysplasia [RCV005002593] Chr20:10672868 [GRCh38]
Chr20:10653516 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.232T>A (p.Cys78Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002597] Chr20:10672856 [GRCh38]
Chr20:10653504 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.236T>G (p.Leu79Arg) single nucleotide variant Arteriohepatic dysplasia [RCV005002598] Chr20:10672852 [GRCh38]
Chr20:10653500 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.236T>A (p.Leu79His) single nucleotide variant Arteriohepatic dysplasia [RCV005002599] Chr20:10672852 [GRCh38]
Chr20:10653500 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.275G>C (p.Cys92Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002603] Chr20:10672813 [GRCh38]
Chr20:10653461 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.333C>G (p.Ala111=) single nucleotide variant Arteriohepatic dysplasia [RCV005002614] Chr20:10672755 [GRCh38]
Chr20:10653403 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.359T>A (p.Ile120Asn) single nucleotide variant Arteriohepatic dysplasia [RCV005002616] Chr20:10672729 [GRCh38]
Chr20:10653377 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.398C>A (p.Thr133Lys) single nucleotide variant Arteriohepatic dysplasia [RCV005002624] Chr20:10664004 [GRCh38]
Chr20:10644652 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.401T>G (p.Leu134Trp) single nucleotide variant Arteriohepatic dysplasia [RCV005002626] Chr20:10664001 [GRCh38]
Chr20:10644649 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.2705G>C (p.Cys902Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001236096]|not provided [RCV000214606] Chr20:10641671 [GRCh38]
Chr20:10622319 [GRCh37]
Chr20:20p12.2		 likely pathogenic|uncertain significance
NM_000214.3(JAG1):c.694+1G>A single nucleotide variant not provided [RCV000216385] Chr20:10658467 [GRCh38]
Chr20:10639115 [GRCh37]
Chr20:20p12.2		 pathogenic|likely pathogenic
NM_000214.3(JAG1):c.703C>T (p.Arg235Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000820770]|Alagille syndrome due to a JAG1 point mutation [RCV005025367]|JAG1-related disorder [RCV004547565]|not provided [RCV000218714] Chr20:10656450 [GRCh38]
Chr20:10637098 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.81+1G>A single nucleotide variant not provided [RCV000221204] Chr20:10673449 [GRCh38]
Chr20:10654097 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2968A>T (p.Lys990Ter) single nucleotide variant not provided [RCV000221278] Chr20:10641193 [GRCh38]
Chr20:10621841 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2304C>A (p.Cys768Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002519743]|not provided [RCV000216570] Chr20:10644903 [GRCh38]
Chr20:10625551 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.97G>A (p.Gly33Ser) single nucleotide variant not provided [RCV000218915] Chr20:10672991 [GRCh38]
Chr20:10653639 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.2080A>T (p.Lys694Ter) single nucleotide variant not provided [RCV000221335] Chr20:10645389 [GRCh38]
Chr20:10626037 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2045G>A (p.Cys682Tyr) single nucleotide variant not provided [RCV000223007] Chr20:10645424 [GRCh38]
Chr20:10626072 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.2(JAG1):c.693_694delAG (p.Arg231Serfs) deletion not provided [RCV000223264] Chr20:10658468..10658469 [GRCh38]
Chr20:10639116..10639117 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2418del (p.Cys806fs) deletion not provided [RCV000215073] Chr20:10643818 [GRCh38]
Chr20:10624466 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3062del (p.Ile1021fs) deletion not provided [RCV000216887] Chr20:10640920 [GRCh38]
Chr20:10621568 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3048+1G>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV004576930]|not provided [RCV000219290] Chr20:10641112 [GRCh38]
Chr20:10621760 [GRCh37]
Chr20:20p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000214.3(JAG1):c.1082_1083del (p.Glu361fs) deletion not provided [RCV000215186] Chr20:10651618..10651619 [GRCh38]
Chr20:10632266..10632267 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2895dup (p.Asn966Ter) duplication Alagille syndrome due to a JAG1 point mutation [RCV000233877] Chr20:10641480..10641481 [GRCh38]
Chr20:10622128..10622129 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.*2A>G single nucleotide variant not specified [RCV000235451] Chr20:10639496 [GRCh38]
Chr20:10620144 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2301G>A (p.Thr767=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000861642]|Cardiovascular phenotype [RCV000618019]|not provided [RCV003430798]|not specified [RCV000235752] Chr20:10644906 [GRCh38]
Chr20:10625554 [GRCh37]
Chr20:20p12.2		 benign|likely benign
GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3 copy number gain See cases [RCV000239954] Chr20:80198..26075841 [GRCh37]
Chr20:20p13-11.1		 pathogenic
NM_000214.3(JAG1):c.388-43C>T single nucleotide variant not provided [RCV001640473]|not specified [RCV000243639] Chr20:10664057 [GRCh38]
Chr20:10644705 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.2458+30A>G single nucleotide variant not provided [RCV001640472]|not specified [RCV000253372] Chr20:10643748 [GRCh38]
Chr20:10624396 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.400T>C (p.Leu134=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002055029]|Alagille syndrome due to a JAG1 point mutation [RCV002494701]|Cardiovascular phenotype [RCV002356341]|not specified [RCV000248622] Chr20:10664002 [GRCh38]
Chr20:10644650 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.435C>T (p.Thr145=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002518568]|Cardiovascular phenotype [RCV004020999]|not specified [RCV000253588] Chr20:10663967 [GRCh38]
Chr20:10644615 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1195G>A (p.Val399Met) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001237017]|Alagille syndrome due to a JAG1 point mutation [RCV005025398]|Cardiovascular phenotype [RCV002338795]|not specified [RCV000244469] Chr20:10650286 [GRCh38]
Chr20:10630934 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.1509_1510del (p.Gln503_Asn504insTer) deletion not provided [RCV000255889] Chr20:10648608..10648609 [GRCh38]
Chr20:10629256..10629257 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.695-12T>A single nucleotide variant not provided [RCV000255909] Chr20:10656470 [GRCh38]
Chr20:10637118 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.814G>A (p.Val272Ile) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001081833]|Cardiovascular phenotype [RCV000244534]|JAG1-related disorder [RCV004547640]|not provided [RCV000597837] Chr20:10652540 [GRCh38]
Chr20:10633188 [GRCh37]
Chr20:20p12.2		 pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000214.3(JAG1):c.1234+21_1234+22del deletion not specified [RCV000249421] Chr20:10650225..10650226 [GRCh38]
Chr20:10630873..10630874 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1570-28C>G single nucleotide variant not provided [RCV001668420]|not specified [RCV000244770] Chr20:10648138 [GRCh38]
Chr20:10628786 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.377_378delinsAA (p.Phe126Ter) indel Alagille syndrome due to a JAG1 point mutation [RCV003223400]|not provided [RCV000256052] Chr20:10672710..10672711 [GRCh38]
Chr20:10653358..10653359 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2286C>T (p.Asn762=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001442516]|Cardiovascular phenotype [RCV000244899]|not provided [RCV000734570] Chr20:10644921 [GRCh38]
Chr20:10625569 [GRCh37]
Chr20:20p12.2		 pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000214.3(JAG1):c.2724C>T (p.His908=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002057324]|Cardiovascular phenotype [RCV004992134]|not specified [RCV000242601] Chr20:10641652 [GRCh38]
Chr20:10622300 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1007-16A>G single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001520812]|Alagille syndrome due to a JAG1 point mutation [RCV002494700]|not specified [RCV000252476] Chr20:10651710 [GRCh38]
Chr20:10632358 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.886+19A>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001513289]|not provided [RCV001640474]|not specified [RCV000242845] Chr20:10652449 [GRCh38]
Chr20:10633097 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.2916+27del deletion Alagille syndrome due to a JAG1 point mutation [RCV001730605]|Deafness, congenital heart defects, and posterior embryotoxon [RCV001730606]|Tetralogy of Fallot [RCV001730604]|not provided [RCV001682964]|not specified [RCV000242886] Chr20:10641433 [GRCh38]
Chr20:10622081 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.2459-17A>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001510191]|Alagille syndrome due to a JAG1 point mutation [RCV002500857]|not provided [RCV001682963]|not specified [RCV000245373] Chr20:10642618 [GRCh38]
Chr20:10623266 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.2917-30A>G single nucleotide variant not provided [RCV001651116]|not specified [RCV000247877] Chr20:10641274 [GRCh38]
Chr20:10621922 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.2573-16C>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001513531]|not provided [RCV001689784]|not specified [RCV000250317] Chr20:10641908 [GRCh38]
Chr20:10622556 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.1349-11T>G single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001521213]|Isolated Nonsyndromic Congenital Heart Disease [RCV000323192]|not specified [RCV000252761] Chr20:10649118 [GRCh38]
Chr20:10629766 [GRCh37]
Chr20:20p12.2		 benign|likely benign
GRCh37/hg19 20p12.2(chr20:10639152-10639516)x1 copy number loss See cases [RCV000240293] Chr20:10639152..10639516 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2778C>T (p.Phe926=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001083311]|Cardiovascular phenotype [RCV000250492]|Isolated Nonsyndromic Congenital Heart Disease [RCV001138548]|not provided [RCV000263872] Chr20:10641598 [GRCh38]
Chr20:10622246 [GRCh37]
Chr20:20p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000214.3(JAG1):c.294C>T (p.Ser98=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000463388]|Cardiovascular phenotype [RCV000619252]|Isolated Nonsyndromic Congenital Heart Disease [RCV000331512]|not provided [RCV001610569]|not specified [RCV000252839] Chr20:10672794 [GRCh38]
Chr20:10653442 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.1578C>T (p.Ile526=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000861803]|Alagille syndrome due to a JAG1 point mutation [RCV002487117]|Cardiovascular phenotype [RCV002401953]|Isolated Nonsyndromic Congenital Heart Disease [RCV000301221]|not provided [RCV001701806]|not specified [RCV000248082] Chr20:10648102 [GRCh38]
Chr20:10628750 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.1720+5C>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005090255]|not specified [RCV000253050] Chr20:10647955 [GRCh38]
Chr20:10628603 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.3048+30_3048+32del microsatellite not specified [RCV000243357] Chr20:10641081..10641083 [GRCh38]
Chr20:10621729..10621731 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.-42G>T single nucleotide variant Isolated Nonsyndromic Congenital Heart Disease [RCV000364285]|not provided [RCV001584041] Chr20:10673572 [GRCh38]
Chr20:10654220 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.*6C>T single nucleotide variant Isolated Nonsyndromic Congenital Heart Disease [RCV000348978]|JAG1-related disorder [RCV004549767] Chr20:10639492 [GRCh38]
Chr20:10620140 [GRCh37]
Chr20:20p12.2		 benign|likely benign|uncertain significance
NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000471378]|Alagille syndrome due to a JAG1 point mutation [RCV002504137]|Cardiovascular phenotype [RCV000620807]|Isolated Nonsyndromic Congenital Heart Disease [RCV000262497]|JAG1-related disorder [RCV004549770]|not provided [RCV001528251]|not specified [RCV000595286] Chr20:10644976 [GRCh38]
Chr20:10625624 [GRCh37]
Chr20:20p12.2		 benign|likely benign|uncertain significance
NM_000214.3(JAG1):c.3297G>A (p.Pro1099=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001497922]|Cardiovascular phenotype [RCV002450913]|Isolated Nonsyndromic Congenital Heart Disease [RCV000281669] Chr20:10639858 [GRCh38]
Chr20:10620506 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.1218_1219insGA (p.Lys407fs) insertion not provided [RCV000273013] Chr20:10650262..10650263 [GRCh38]
Chr20:10630910..10630911 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2122C>T (p.Gln708Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002518076]|not provided [RCV000275364] Chr20:10645248 [GRCh38]
Chr20:10625896 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2113+5G>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000707656]|not provided [RCV000371880] Chr20:10645351 [GRCh38]
Chr20:10625999 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.526G>A (p.Val176Ile) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001078642]|Alagille syndrome due to a JAG1 point mutation [RCV002488725]|Cardiovascular phenotype [RCV002348090]|Isolated Nonsyndromic Congenital Heart Disease [RCV000271780]|JAG1-related disorder [RCV004549772]|not provided [RCV000827896]|not specified [RCV000728706] Chr20:10658636 [GRCh38]
Chr20:10639284 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.*297C>T single nucleotide variant Isolated Nonsyndromic Congenital Heart Disease [RCV000272309] Chr20:10639201 [GRCh38]
Chr20:10619849 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.*1132T>G single nucleotide variant Isolated Nonsyndromic Congenital Heart Disease [RCV000408215]|not provided [RCV004717347] Chr20:10638366 [GRCh38]
Chr20:10638366..10638367 [GRCh38]
Chr20:10619014 [GRCh37]
Chr20:10619014..10619015 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.1721-15A>G single nucleotide variant Isolated Nonsyndromic Congenital Heart Disease [RCV000368745] Chr20:10647118 [GRCh38]
Chr20:10627766 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2728dup (p.Glu910fs) duplication not provided [RCV000284012] Chr20:10641647..10641648 [GRCh38]
Chr20:10622295..10622296 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.*1511dup duplication Isolated Nonsyndromic Congenital Heart Disease [RCV000389090] Chr20:10637986..10637987 [GRCh38]
Chr20:10618634..10618635 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.*856dup duplication Isolated Nonsyndromic Congenital Heart Disease [RCV000323447] Chr20:10638641..10638642 [GRCh38]
Chr20:10619289..10619290 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.3342C>T (p.Asn1114=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003619669]|Cardiovascular phenotype [RCV002321963]|not provided [RCV000376088] Chr20:10639813 [GRCh38]
Chr20:10620461 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.2199C>T (p.Gly733=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001502689]|Isolated Nonsyndromic Congenital Heart Disease [RCV000376106]|JAG1-related disorder [RCV004549771]|not provided [RCV000728145] Chr20:10645171 [GRCh38]
Chr20:10625819 [GRCh37]
Chr20:20p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000214.3(JAG1):c.388-4G>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001088224]|Alagille syndrome due to a JAG1 point mutation [RCV002502301]|Cardiovascular phenotype [RCV002356471]|Isolated Nonsyndromic Congenital Heart Disease [RCV000389399]|not provided [RCV000840668]|not specified [RCV000728129] Chr20:10664018 [GRCh38]
Chr20:10644666 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.*1531TG[1] microsatellite Arteriohepatic dysplasia [RCV000274685]|Isolated Nonsyndromic Congenital Heart Disease [RCV000332154]|not provided [RCV003430854] Chr20:10637964..10637965 [GRCh38]
Chr20:10618612..10618613 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.311del (p.Gly104fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV005031846]|not provided [RCV000300352] Chr20:10672777 [GRCh38]
Chr20:10653425 [GRCh37]
Chr20:20p12.2		 pathogenic|likely pathogenic
NM_000214.3(JAG1):c.3045C>G (p.Ala1015=) single nucleotide variant not provided [RCV000273919] Chr20:10641116 [GRCh38]
Chr20:10621764 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.-129C>T single nucleotide variant Isolated Nonsyndromic Congenital Heart Disease [RCV000260024] Chr20:10673659 [GRCh38]
Chr20:10654307 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.*959GTTT[2] microsatellite Arteriohepatic dysplasia [RCV000330877]|Isolated Nonsyndromic Congenital Heart Disease [RCV000275692]|not provided [RCV003430855] Chr20:10638528..10638531 [GRCh38]
Chr20:10619176..10619179 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.*619C>T single nucleotide variant Isolated Nonsyndromic Congenital Heart Disease [RCV000393751] Chr20:10638879 [GRCh38]
Chr20:10619527 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.2344+15C>G single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001522693]|Isolated Nonsyndromic Congenital Heart Disease [RCV000408407]|not specified [RCV000426188] Chr20:10644848 [GRCh38]
Chr20:10625496 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.2706C>A (p.Cys902Ter) single nucleotide variant not provided [RCV000300768] Chr20:10641670 [GRCh38]
Chr20:10622318 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3651C>T (p.Ile1217=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001078752]|Cardiovascular phenotype [RCV003165767]|Isolated Nonsyndromic Congenital Heart Disease [RCV001141013]|not provided [RCV000343144] Chr20:10639504 [GRCh38]
Chr20:10620152 [GRCh37]
Chr20:20p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000214.3(JAG1):c.*401C>T single nucleotide variant Isolated Nonsyndromic Congenital Heart Disease [RCV000297876] Chr20:10639097 [GRCh38]
Chr20:10619745 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.-299AAG[1] microsatellite Arteriohepatic dysplasia [RCV000378964]|Isolated Nonsyndromic Congenital Heart Disease [RCV000317633]|not provided [RCV002298574] Chr20:10673824..10673826 [GRCh38]
Chr20:10654472..10654474 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.*914G>A single nucleotide variant Isolated Nonsyndromic Congenital Heart Disease [RCV000318133] Chr20:10638584 [GRCh38]
Chr20:10619232 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.*563_*565del deletion Isolated Nonsyndromic Congenital Heart Disease [RCV000393742] Chr20:10638933..10638935 [GRCh38]
Chr20:10619581..10619583 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1146C>T (p.Asn382=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001087114]|Cardiovascular phenotype [RCV000621443]|JAG1-related disorder [RCV004549621]|not provided [RCV000726436]|not specified [RCV000346646] Chr20:10650335 [GRCh38]
Chr20:10630983 [GRCh37]
Chr20:20p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000214.3(JAG1):c.*1637A>G single nucleotide variant Isolated Nonsyndromic Congenital Heart Disease [RCV000261669] Chr20:10637861 [GRCh38]
Chr20:10618509 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1395+3A>G single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001218520]|Tetralogy of Fallot [RCV004021282]|not provided [RCV000320018] Chr20:10649058 [GRCh38]
Chr20:10629706 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2310C>A (p.Cys770Ter) single nucleotide variant not provided [RCV000325977] Chr20:10644897 [GRCh38]
Chr20:10625545 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1720+1del deletion not provided [RCV000326530] Chr20:10647959 [GRCh38]
Chr20:10628607 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2781C>T (p.Val927=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001089190]|Cardiovascular phenotype [RCV002436121]|JAG1-related disorder [RCV004549606]|not provided [RCV000313708] Chr20:10641595 [GRCh38]
Chr20:10622243 [GRCh37]
Chr20:20p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000214.3(JAG1):c.56C>T (p.Ala19Val) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002487258]|not provided [RCV000349364] Chr20:10673475 [GRCh38]
Chr20:10654123 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.*970T>C single nucleotide variant Isolated Nonsyndromic Congenital Heart Disease [RCV000366816] Chr20:10638528 [GRCh38]
Chr20:10619176 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.282C>T (p.Phe94=) single nucleotide variant Isolated Nonsyndromic Congenital Heart Disease [RCV000282610] Chr20:10672806 [GRCh38]
Chr20:10653454 [GRCh37]
Chr20:20p12.2		 benign|uncertain significance
NM_000214.3(JAG1):c.*756A>G single nucleotide variant Isolated Nonsyndromic Congenital Heart Disease [RCV000283467]|not provided [RCV004717348] Chr20:10638742 [GRCh38]
Chr20:10619390 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.3343G>A (p.Val1115Met) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001214423]|Cardiovascular phenotype [RCV002323546]|Isolated Nonsyndromic Congenital Heart Disease [RCV000389258]|not provided [RCV000729052] Chr20:10639812 [GRCh38]
Chr20:10620460 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.2300C>T (p.Thr767Met) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000645019]|Alagille syndrome due to a JAG1 point mutation [RCV002487494]|Cardiovascular phenotype [RCV000618450]|Isolated Nonsyndromic Congenital Heart Disease [RCV000357300]|not provided [RCV000730538] Chr20:10644907 [GRCh38]
Chr20:10625555 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.*21C>T single nucleotide variant Isolated Nonsyndromic Congenital Heart Disease [RCV000352586] Chr20:10639477 [GRCh38]
Chr20:10620125 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.2(JAG1):c.-514G>C single nucleotide variant Isolated Nonsyndromic Congenital Heart Disease [RCV000327632] Chr20:10674044 [GRCh38]
Chr20:10654692 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.841C>T (p.Gln281Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000342012]|not provided [RCV000725977] Chr20:10652513 [GRCh38]
Chr20:10633161 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.-105C>G single nucleotide variant Isolated Nonsyndromic Congenital Heart Disease [RCV000318701] Chr20:10673635 [GRCh38]
Chr20:10654283 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.*253C>T single nucleotide variant Arteriohepatic dysplasia [RCV000288356]|Isolated Nonsyndromic Congenital Heart Disease [RCV000382041] Chr20:10639245 [GRCh38]
Chr20:10619893 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.*1493A>G single nucleotide variant Isolated Nonsyndromic Congenital Heart Disease [RCV000387222] Chr20:10638005 [GRCh38]
Chr20:10618653 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.2370del (p.Cys791fs) deletion not provided [RCV000356107] Chr20:10644359 [GRCh38]
Chr20:10625007 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.-433G>A single nucleotide variant Isolated Nonsyndromic Congenital Heart Disease [RCV000390939]|not provided [RCV001660703] Chr20:10673963 [GRCh38]
Chr20:10654611 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.*641C>A single nucleotide variant Isolated Nonsyndromic Congenital Heart Disease [RCV000289201] Chr20:10638857 [GRCh38]
Chr20:10619505 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.*1206del deletion Isolated Nonsyndromic Congenital Heart Disease [RCV000401970] Chr20:10638292 [GRCh38]
Chr20:10618940 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.3555C>T (p.Pro1185=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000863087]|Cardiovascular phenotype [RCV000619210]|Isolated Nonsyndromic Congenital Heart Disease [RCV000392967]|JAG1-related disorder [RCV004549769] Chr20:10639600 [GRCh38]
Chr20:10620248 [GRCh37]
Chr20:20p12.2		 benign|likely benign|uncertain significance
NM_000214.3(JAG1):c.390dup (p.Ser131fs) duplication Alagille syndrome due to a JAG1 point mutation [RCV001204274]|not provided [RCV000363100] Chr20:10664011..10664012 [GRCh38]
Chr20:10644659..10644660 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2917-7G>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001488793]|Isolated Nonsyndromic Congenital Heart Disease [RCV000336734]|not provided [RCV000591911] Chr20:10641251 [GRCh38]
Chr20:10621899 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.439C>T (p.Gln147Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000370816]|JAG1-related disorder [RCV004739659]|not provided [RCV000725978] Chr20:10663963 [GRCh38]
Chr20:10644611 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1680C>A (p.Cys560Ter) single nucleotide variant not provided [RCV000378000] Chr20:10648000 [GRCh38]
Chr20:10628648 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2682+8A>G single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000645024]|not provided [RCV000292075] Chr20:10641775 [GRCh38]
Chr20:10622423 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.2298T>C (p.Phe766=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002059305]|Cardiovascular phenotype [RCV004021313]|JAG1-related disorder [RCV004549626]|not provided [RCV000324880] Chr20:10644909 [GRCh38]
Chr20:10625557 [GRCh37]
Chr20:20p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000214.3(JAG1):c.36C>A (p.Arg12=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002519144]|not provided [RCV000325023] Chr20:10673495 [GRCh38]
Chr20:10654143 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.-385T>G single nucleotide variant Isolated Nonsyndromic Congenital Heart Disease [RCV000312591]|not provided [RCV001636944] Chr20:10673915 [GRCh38]
Chr20:10673915..10673916 [GRCh38]
Chr20:10654563 [GRCh37]
Chr20:10654563..10654564 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.2590A>G (p.Ile864Val) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001068124]|Arteriohepatic dysplasia [RCV000408414]|Cardiovascular phenotype [RCV004021826]|Isolated Nonsyndromic Congenital Heart Disease [RCV000339764] Chr20:10641875 [GRCh38]
Chr20:10622523 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.349dup (p.Arg117fs) duplication not provided [RCV000378863] Chr20:10672738..10672739 [GRCh38]
Chr20:10653386..10653387 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1464C>T (p.Ile488=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001502718]|not provided [RCV000260075] Chr20:10648654 [GRCh38]
Chr20:10629302 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.3515A>G (p.Lys1172Arg) single nucleotide variant not provided [RCV000293394] Chr20:10639640 [GRCh38]
Chr20:10620288 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.756-14C>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002057726]|Alagille syndrome due to a JAG1 point mutation [RCV005027436]|Isolated Nonsyndromic Congenital Heart Disease [RCV000400703] Chr20:10652612 [GRCh38]
Chr20:10633260 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.1439C>T (p.Ala480Val) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000626304]|Cardiovascular phenotype [RCV002392902]|Isolated Nonsyndromic Congenital Heart Disease [RCV000260977]|not provided [RCV001795955]|not specified [RCV001795956] Chr20:10648679 [GRCh38]
Chr20:10629327 [GRCh37]
Chr20:20p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000214.3(JAG1):c.-384T>G single nucleotide variant Isolated Nonsyndromic Congenital Heart Disease [RCV000343993]|not provided [RCV003437075] Chr20:10673914 [GRCh38]
Chr20:10654562 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.2604T>C (p.Ser868=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002518165]|Cardiovascular phenotype [RCV002429240]|not provided [RCV000294579] Chr20:10641861 [GRCh38]
Chr20:10622509 [GRCh37]
Chr20:20p12.2		 benign|likely benign|uncertain significance
NM_000214.3(JAG1):c.1344C>T (p.Asp448=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001441629]|Alagille syndrome due to a JAG1 point mutation [RCV002504138]|Cardiovascular phenotype [RCV002379231]|Isolated Nonsyndromic Congenital Heart Disease [RCV000321807]|not provided [RCV003430856] Chr20:10649526 [GRCh38]
Chr20:10630174 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.3570G>A (p.Pro1190=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001522902]|Cardiovascular phenotype [RCV002450912]|Isolated Nonsyndromic Congenital Heart Disease [RCV000299839]|JAG1-related disorder [RCV004549768]|not provided [RCV000867990] Chr20:10639585 [GRCh38]
Chr20:10620233 [GRCh37]
Chr20:20p12.2		 benign|likely benign|uncertain significance
NM_000214.3(JAG1):c.*1572A>G single nucleotide variant Isolated Nonsyndromic Congenital Heart Disease [RCV000366943]|not provided [RCV001711956] Chr20:10637926 [GRCh38]
Chr20:10618574 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.*644AAT[1] microsatellite Arteriohepatic dysplasia [RCV000347854]|Isolated Nonsyndromic Congenital Heart Disease [RCV000401384] Chr20:10638849..10638851 [GRCh38]
Chr20:10619497..10619499 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.173_176del (p.Ala58fs) deletion not provided [RCV000402276] Chr20:10672912..10672915 [GRCh38]
Chr20:10653560..10653563 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.204C>T (p.Arg68=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001457336]|Cardiovascular phenotype [RCV004021302]|JAG1-related disorder [RCV004549622]|not provided [RCV000263328] Chr20:10672884 [GRCh38]
Chr20:10653532 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.3521C>T (p.Pro1174Leu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001506176]|Isolated Nonsyndromic Congenital Heart Disease [RCV000310081]|JAG1-related disorder [RCV004739693]|not provided [RCV000592285] Chr20:10639634 [GRCh38]
Chr20:10620282 [GRCh37]
Chr20:20p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000214.2(JAG1):c.-507G>A single nucleotide variant Isolated Nonsyndromic Congenital Heart Disease [RCV000265548] Chr20:10674037 [GRCh38]
Chr20:10654685 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.2(JAG1):c.-483C>T single nucleotide variant Isolated Nonsyndromic Congenital Heart Disease [RCV000324148] Chr20:10674013 [GRCh38]
Chr20:10654661 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.*398T>C single nucleotide variant Isolated Nonsyndromic Congenital Heart Disease [RCV000361979] Chr20:10639100 [GRCh38]
Chr20:10619748 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.*486del deletion Isolated Nonsyndromic Congenital Heart Disease [RCV000301259] Chr20:10639012 [GRCh38]
Chr20:10619660 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.133G>T (p.Val45Leu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000645022]|Cardiovascular phenotype [RCV000618886]|Isolated Nonsyndromic Congenital Heart Disease [RCV000303889]|not provided [RCV001672588]|not specified [RCV000597398] Chr20:10672955 [GRCh38]
Chr20:10653603 [GRCh37]
Chr20:20p12.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000214.3(JAG1):c.1037_1056dup (p.Glu353fs) duplication not provided [RCV000293987] Chr20:10651644..10651645 [GRCh38]
Chr20:10632292..10632293 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.992C>A (p.Pro331His) single nucleotide variant not provided [RCV000333297] Chr20:10652145 [GRCh38]
Chr20:10632793 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.*1212_*1214del deletion Arteriohepatic dysplasia [RCV000374428]|Isolated Nonsyndromic Congenital Heart Disease [RCV000279930] Chr20:10638284..10638286 [GRCh38]
Chr20:10618932..10618934 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.*1084G>C single nucleotide variant Isolated Nonsyndromic Congenital Heart Disease [RCV000370316] Chr20:10638414 [GRCh38]
Chr20:10619062 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.2270dup (p.Thr758fs) duplication not provided [RCV000260721] Chr20:10644936..10644937 [GRCh38]
Chr20:10625584..10625585 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3064C>T (p.Arg1022Trp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000408881] Chr20:10640918 [GRCh38]
Chr20:10621566 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1890del (p.Asn631fs) deletion not provided [RCV003314931] Chr20:10646080 [GRCh38]
Chr20:10626728 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1346_1347del (p.Ile449fs) deletion not provided [RCV000597699] Chr20:10649523..10649524 [GRCh38]
Chr20:10630171..10630172 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1446_1448delinsC (p.His483fs) indel Alagille syndrome due to a JAG1 point mutation [RCV000722169] Chr20:10648670..10648672 [GRCh38]
Chr20:10629318..10629320 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.341del (p.Gly114fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV002285222] Chr20:10672747 [GRCh38]
Chr20:10653395 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3346C>T (p.Arg1116Trp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000810621]|Alagille syndrome due to a JAG1 point mutation [RCV005034169]|Cardiovascular phenotype [RCV002325129]|JAG1-related disorder [RCV004553329]|not provided [RCV000598181] Chr20:10639809 [GRCh38]
Chr20:10620457 [GRCh37]
Chr20:20p12.2		 benign|likely benign|uncertain significance
NM_000214.3(JAG1):c.2268_2270del (p.Gly757del) deletion not provided [RCV003314902] Chr20:10644937..10644939 [GRCh38]
Chr20:10625585..10625587 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2640del (p.Asp879_Cys880insTer) deletion not provided [RCV000489825] Chr20:10641825 [GRCh38]
Chr20:10622473 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1521C>G (p.Asn507Lys) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001268945] Chr20:10648597 [GRCh38]
Chr20:10629245 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1214C>G (p.Thr405Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005091561]|not provided [RCV000595190] Chr20:10650267 [GRCh38]
Chr20:10630915 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.-375dup duplication Arteriohepatic dysplasia [RCV000377972]|Isolated Nonsyndromic Congenital Heart Disease [RCV000291349] Chr20:10673904..10673905 [GRCh38]
Chr20:10654552..10654553 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2043G>A (p.Thr681=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001089168]|Cardiovascular phenotype [RCV000618168]|not provided [RCV000596723] Chr20:10645426 [GRCh38]
Chr20:10626074 [GRCh37]
Chr20:20p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000214.3(JAG1):c.-73G>C single nucleotide variant Isolated Nonsyndromic Congenital Heart Disease [RCV000367635] Chr20:10673603 [GRCh38]
Chr20:10654251 [GRCh37]
Chr20:20p12.2		 uncertain significance
NC_000020.11:g.10674058G>T single nucleotide variant Arteriohepatic dysplasia [RCV000314620]|Isolated Nonsyndromic Congenital Heart Disease [RCV000403009] Chr20:10674058 [GRCh38]
Chr20:10654706 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.*1224G>A single nucleotide variant Isolated Nonsyndromic Congenital Heart Disease [RCV000319745] Chr20:10638274 [GRCh38]
Chr20:10618922 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.*1093_*1097del deletion Arteriohepatic dysplasia [RCV000403847]|Isolated Nonsyndromic Congenital Heart Disease [RCV000364934] Chr20:10638401..10638405 [GRCh38]
Chr20:10619049..10619053 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.-386dup duplication Arteriohepatic dysplasia [RCV000294874]|Isolated Nonsyndromic Congenital Heart Disease [RCV000352200]|not provided [RCV001691963] Chr20:10673915..10673916 [GRCh38]
Chr20:10654563..10654564 [GRCh37]
Chr20:20p12.2		 benign|uncertain significance
NM_000214.3(JAG1):c.-27C>G single nucleotide variant Isolated Nonsyndromic Congenital Heart Disease [RCV000407823] Chr20:10673557 [GRCh38]
Chr20:10654205 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.*1133_*1136del deletion Arteriohepatic dysplasia [RCV000285576]|Isolated Nonsyndromic Congenital Heart Disease [RCV000340587] Chr20:10638362..10638365 [GRCh38]
Chr20:10619010..10619013 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.*378T>G single nucleotide variant Isolated Nonsyndromic Congenital Heart Disease [RCV000321440] Chr20:10639120 [GRCh38]
Chr20:10619768 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.2(JAG1):c.-482G>A single nucleotide variant Isolated Nonsyndromic Congenital Heart Disease [RCV000297365] Chr20:10674012 [GRCh38]
Chr20:10654660 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.-364T>G single nucleotide variant Isolated Nonsyndromic Congenital Heart Disease [RCV000287081] Chr20:10673894 [GRCh38]
Chr20:10654542 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1866G>A (p.Thr622=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003509587]|Cardiovascular phenotype [RCV000621611]|not provided [RCV000734060] Chr20:10646958 [GRCh38]
Chr20:10627606 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.2671G>A (p.Ala891Thr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001342639]|Cardiovascular phenotype [RCV004024732]|not provided [RCV000591762] Chr20:10641794 [GRCh38]
Chr20:10622442 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.1384G>A (p.Ala462Thr) single nucleotide variant not provided [RCV000592242] Chr20:10649072 [GRCh38]
Chr20:10629720 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1748C>T (p.Ala583Val) single nucleotide variant not provided [RCV000730106] Chr20:10647076 [GRCh38]
Chr20:10627724 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2305G>A (p.Val769Ile) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002532683]|Alagille syndrome due to a JAG1 point mutation [RCV005027717]|Cardiovascular phenotype [RCV002448839]|not provided [RCV000591788] Chr20:10644902 [GRCh38]
Chr20:10625550 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.1308C>T (p.Cys436=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001345958]|Alagille syndrome due to a JAG1 point mutation [RCV005027713]|Cardiovascular phenotype [RCV004629251]|not provided [RCV000592331] Chr20:10649562 [GRCh38]
Chr20:10630210 [GRCh37]
Chr20:20p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000214.3(JAG1):c.19C>T (p.Arg7Cys) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001039478]|Alagille syndrome due to a JAG1 point mutation [RCV002476291]|Cardiovascular phenotype [RCV003160015]|not provided [RCV000592427] Chr20:10673512 [GRCh38]
Chr20:10654160 [GRCh37]
Chr20:20p12.2		 benign|uncertain significance
NM_000214.3(JAG1):c.100C>T (p.Gln34Ter) single nucleotide variant not provided [RCV000591986] Chr20:10672988 [GRCh38]
Chr20:10653636 [GRCh37]
Chr20:20p12.2		 pathogenic|likely pathogenic
NM_000214.3(JAG1):c.1575C>T (p.Asp525=) single nucleotide variant not provided [RCV000592475] Chr20:10648105 [GRCh38]
Chr20:10628753 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2039dup (p.Thr681fs) duplication not provided [RCV000598667] Chr20:10645429..10645430 [GRCh38]
Chr20:10626077..10626078 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.711C>T (p.Gly237=) single nucleotide variant Arteriohepatic dysplasia [RCV005002147]|not provided [RCV000592639] Chr20:10656442 [GRCh38]
Chr20:10637090 [GRCh37]
Chr20:20p12.2		 uncertain significance|not provided
NM_000214.3(JAG1):c.64T>C (p.Cys22Arg) single nucleotide variant Arteriohepatic dysplasia [RCV005002148]|not provided [RCV000592654] Chr20:10673467 [GRCh38]
Chr20:10654115 [GRCh37]
Chr20:20p12.2		 conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000214.3(JAG1):c.2996A>C (p.Tyr999Ser) single nucleotide variant not provided [RCV000593084] Chr20:10641165 [GRCh38]
Chr20:10621813 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1522dup (p.Arg508fs) duplication not provided [RCV000627486] Chr20:10648595..10648596 [GRCh38]
Chr20:10629243..10629244 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1655C>T (p.Pro552Leu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000867461]|Alagille syndrome due to a JAG1 point mutation [RCV002506431]|Isolated Nonsyndromic Congenital Heart Disease [RCV001138645]|JAG1-related disorder [RCV004553334]|not provided [RCV003437297]|not specified [RCV000593228] Chr20:10648025 [GRCh38]
Chr20:10628673 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.929del (p.Gly310fs) deletion not provided [RCV000593244] Chr20:10652208 [GRCh38]
Chr20:10632856 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.813C>G (p.Cys271Trp) single nucleotide variant Arteriohepatic dysplasia [RCV005002153]|not provided [RCV000730330] Chr20:10652541 [GRCh38]
Chr20:10633189 [GRCh37]
Chr20:20p12.2		 uncertain significance|not provided
NM_000214.3(JAG1):c.1335G>A (p.Gln445=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001437665]|Cardiovascular phenotype [RCV002384301]|JAG1-related disorder [RCV004740356]|not provided [RCV000593319] Chr20:10649535 [GRCh38]
Chr20:10630183 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.2830del (p.Pro943_Val944insTer) deletion not provided [RCV000593354] Chr20:10641546 [GRCh38]
Chr20:10622194 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1899_1900del (p.Cys633_Glu634delinsTer) microsatellite Alagille syndrome due to a JAG1 point mutation [RCV002289890]|not provided [RCV000593424] Chr20:10646070..10646071 [GRCh38]
Chr20:10626718..10626719 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1492_1495del (p.Asn498fs) deletion not provided [RCV000599307] Chr20:10648623..10648626 [GRCh38]
Chr20:10629271..10629274 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1628G>A (p.Arg543His) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001208418]|JAG1-related disorder [RCV004553323]|not provided [RCV000727161]|not specified [RCV000593468] Chr20:10648052 [GRCh38]
Chr20:10628700 [GRCh37]
Chr20:20p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000214.3(JAG1):c.1459_1460insGA (p.Asp487fs) insertion not provided [RCV000596330] Chr20:10648658..10648659 [GRCh38]
Chr20:10629306..10629307 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.488C>G (p.Pro163Arg) single nucleotide variant not provided [RCV000593579] Chr20:10658674 [GRCh38]
Chr20:10639322 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2739C>T (p.Ser913=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001088682]|Cardiovascular phenotype [RCV002438540]|Isolated Nonsyndromic Congenital Heart Disease [RCV001141105]|not provided [RCV000593636] Chr20:10641637 [GRCh38]
Chr20:10622285 [GRCh37]
Chr20:20p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000214.3(JAG1):c.3009_3025dup (p.Asn1009fs) duplication not provided [RCV000593638] Chr20:10641135..10641136 [GRCh38]
Chr20:10621783..10621784 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.521C>T (p.Thr174Met) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000697734]|Alagille syndrome due to a JAG1 point mutation [RCV002491201]|not provided [RCV000658070] Chr20:10658641 [GRCh38]
Chr20:10639289 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.3347G>A (p.Arg1116Gln) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001337732]|Cardiovascular phenotype [RCV002325132]|JAG1-related disorder [RCV004553338]|not provided [RCV000596683] Chr20:10639808 [GRCh38]
Chr20:10620456 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.3007G>C (p.Glu1003Gln) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005029706]|Cardiovascular phenotype [RCV002436720]|Isolated Nonsyndromic Congenital Heart Disease [RCV001138543] Chr20:10641154 [GRCh38]
Chr20:10621802 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2817C>T (p.Ser939=) single nucleotide variant Cardiovascular phenotype [RCV002436722]|Isolated Nonsyndromic Congenital Heart Disease [RCV001138546] Chr20:10641559 [GRCh38]
Chr20:10622207 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.2498C>T (p.Ala833Val) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002528288]|Cardiovascular phenotype [RCV002431493]|not provided [RCV000522322] Chr20:10642562 [GRCh38]
Chr20:10623210 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.886+3A>G single nucleotide variant Cardiovascular phenotype [RCV004024839]|not provided [RCV000597391] Chr20:10652465 [GRCh38]
Chr20:10633113 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.2017C>A (p.Gln673Lys) single nucleotide variant not provided [RCV000597736] Chr20:10645452 [GRCh38]
Chr20:10626100 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1395+3A>C single nucleotide variant not provided [RCV000591232] Chr20:10649058 [GRCh38]
Chr20:10629706 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2927C>T (p.Thr976Met) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001482684]|Alagille syndrome due to a JAG1 point mutation [RCV005027711]|Cardiovascular phenotype [RCV002438541]|JAG1-related disorder [RCV004740358]|not provided [RCV000591569] Chr20:10641234 [GRCh38]
Chr20:10621882 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.1689G>A (p.Leu563=) single nucleotide variant not provided [RCV000730148] Chr20:10647991 [GRCh38]
Chr20:10628639 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.474G>C (p.Ser158=) single nucleotide variant not provided [RCV000730203] Chr20:10658688 [GRCh38]
Chr20:10639336 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2743C>T (p.Gln915Ter) single nucleotide variant not provided [RCV000730600] Chr20:10641633 [GRCh38]
Chr20:10622281 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.197G>A (p.Cys66Tyr) single nucleotide variant not provided [RCV000730629] Chr20:10672891 [GRCh38]
Chr20:10653539 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1348+3G>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001078955]|Cardiovascular phenotype [RCV004629317]|JAG1-related disorder [RCV004547932]|not provided [RCV000731970] Chr20:10649519 [GRCh38]
Chr20:10630167 [GRCh37]
Chr20:20p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000214.3(JAG1):c.459_460insT (p.Lys154Ter) insertion not provided [RCV000732037] Chr20:10658702..10658703 [GRCh38]
Chr20:10639350..10639351 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1006+7G>C single nucleotide variant not provided [RCV000734307] Chr20:10652124 [GRCh38]
Chr20:10632772 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2682+1G>T single nucleotide variant not provided [RCV000735071] Chr20:10641782 [GRCh38]
Chr20:10622430 [GRCh37]
Chr20:20p12.2		 pathogenic|likely pathogenic
NM_000214.3(JAG1):c.494G>A (p.Arg165Gln) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001337598]|not provided [RCV000729607] Chr20:10658668 [GRCh38]
Chr20:10639316 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.30del (p.Arg12fs) deletion not provided [RCV000731295] Chr20:10673501 [GRCh38]
Chr20:10654149 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1806C>T (p.His602=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001518631]|Cardiovascular phenotype [RCV003165998]|Isolated Nonsyndromic Congenital Heart Disease [RCV001138224]|JAG1-related disorder [RCV004547940]|not specified [RCV000735117] Chr20:10647018 [GRCh38]
Chr20:10627666 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.1556G>C (p.Gly519Ala) single nucleotide variant not provided [RCV000735153] Chr20:10648562 [GRCh38]
Chr20:10629210 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2522G>A (p.Gly841Asp) single nucleotide variant not provided [RCV000728552] Chr20:10642538 [GRCh38]
Chr20:10623186 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2807G>A (p.Cys936Tyr) single nucleotide variant not provided [RCV000730023] Chr20:10641569 [GRCh38]
Chr20:10622217 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2345-8_2345-6del deletion Alagille syndrome due to a JAG1 point mutation [RCV001362662]|not provided [RCV000730066] Chr20:10644390..10644392 [GRCh38]
Chr20:10625038..10625040 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.776G>T (p.Gly259Val) single nucleotide variant Arteriohepatic dysplasia [RCV005002154]|not provided [RCV000733176] Chr20:10652578 [GRCh38]
Chr20:10633226 [GRCh37]
Chr20:20p12.2		 uncertain significance|not provided
NM_000214.3(JAG1):c.2458+10G>C single nucleotide variant not provided [RCV000733220] Chr20:10643768 [GRCh38]
Chr20:10624416 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.694+1G>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003319417]|not provided [RCV000730398] Chr20:10658467 [GRCh38]
Chr20:10639115 [GRCh37]
Chr20:20p12.2		 pathogenic|likely pathogenic
NM_000214.3(JAG1):c.3153C>T (p.Ala1051=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001479945]|Cardiovascular phenotype [RCV002325447]|Isolated Nonsyndromic Congenital Heart Disease [RCV001138114]|not provided [RCV000731414] Chr20:10640829 [GRCh38]
Chr20:10621477 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.2148C>T (p.Asn716=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002067128]|Cardiovascular phenotype [RCV003303217]|JAG1-related disorder [RCV004547933]|not provided [RCV000732290] Chr20:10645222 [GRCh38]
Chr20:10625870 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.473C>G (p.Ser158Trp) single nucleotide variant not provided [RCV000734507] Chr20:10658689 [GRCh38]
Chr20:10639337 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.11C>T (p.Pro4Leu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001862161]|not provided [RCV000728941] Chr20:10673520 [GRCh38]
Chr20:10654168 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.81+9C>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000529678] Chr20:10673441 [GRCh38]
Chr20:10654089 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1865C>T (p.Thr622Met) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001417396]|Cardiovascular phenotype [RCV002406672]|not provided [RCV000734571] Chr20:10646959 [GRCh38]
Chr20:10627607 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.489C>T (p.Pro163=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003509596]|Cardiovascular phenotype [RCV004993987]|JAG1-related disorder [RCV004547939]|not provided [RCV000734572] Chr20:10658673 [GRCh38]
Chr20:10639321 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.41del (p.Leu14fs) deletion not provided [RCV000734596] Chr20:10673490 [GRCh38]
Chr20:10654138 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2779G>A (p.Val927Ile) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002536524]|Alagille syndrome due to a JAG1 point mutation [RCV005029400]|Cardiovascular phenotype [RCV002440583]|not provided [RCV000734627] Chr20:10641597 [GRCh38]
Chr20:10622245 [GRCh37]
Chr20:20p12.2		 benign|uncertain significance
NM_000214.3(JAG1):c.3281G>A (p.Arg1094Gln) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000527222]|JAG1-related disorder [RCV004553236]|not provided [RCV001560044] Chr20:10639874 [GRCh38]
Chr20:10620522 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.3213dup (p.Leu1073fs) duplication not provided [RCV000732487] Chr20:10639941..10639942 [GRCh38]
Chr20:10620589..10620590 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.*9G>A single nucleotide variant not provided [RCV000732488] Chr20:10639489 [GRCh38]
Chr20:10620137 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3001G>A (p.Ala1001Thr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002067131]|JAG1-related disorder [RCV004547935]|not provided [RCV000732496] Chr20:10641160 [GRCh38]
Chr20:10621808 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.3524C>T (p.Ala1175Val) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001057425]|Alagille syndrome due to a JAG1 point mutation [RCV005027915]|Cardiovascular phenotype [RCV002458350]|JAG1-related disorder [RCV004547936]|not provided [RCV000733299] Chr20:10639631 [GRCh38]
Chr20:10620279 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.3007_3017dup (p.Ala1008fs) duplication Alagille syndrome due to a JAG1 point mutation [RCV001855796]|not provided [RCV000734000] Chr20:10641143..10641144 [GRCh38]
Chr20:10621791..10621792 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.248A>G (p.Gln83Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002485942]|Alagille syndrome due to a JAG1 point mutation [RCV003768246]|Cardiovascular phenotype [RCV002424747]|not provided [RCV000734693] Chr20:10672840 [GRCh38]
Chr20:10653488 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.2383G>A (p.Gly795Ser) single nucleotide variant not provided [RCV000734733] Chr20:10643853 [GRCh38]
Chr20:10624501 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.203dup (p.Asp69fs) duplication not provided [RCV000734171] Chr20:10672884..10672885 [GRCh38]
Chr20:10653532..10653533 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2424T>A (p.Cys808Ter) single nucleotide variant not provided [RCV000734770] Chr20:10643812 [GRCh38]
Chr20:10624460 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3351G>C (p.Glu1117Asp) single nucleotide variant not provided [RCV000734776] Chr20:10639804 [GRCh38]
Chr20:10620452 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1443C>T (p.Gly481=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001051725]|not provided [RCV000734815] Chr20:10648675 [GRCh38]
Chr20:10629323 [GRCh37]
Chr20:20p12.2		 benign|uncertain significance
NM_000214.3(JAG1):c.*7G>A single nucleotide variant not provided [RCV000734816] Chr20:10639491 [GRCh38]
Chr20:10620139 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2653T>C (p.Cys885Arg) single nucleotide variant not provided [RCV000734850] Chr20:10641812 [GRCh38]
Chr20:10622460 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1452_1453del (p.Cys484_Glu485delinsTer) microsatellite Alagille syndrome due to a JAG1 point mutation [RCV002499382]|not provided [RCV000734852] Chr20:10648665..10648666 [GRCh38]
Chr20:10629313..10629314 [GRCh37]
Chr20:20p12.2		 pathogenic|likely pathogenic
NM_000214.3(JAG1):c.2304C>T (p.Cys768=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001484575]|Isolated Nonsyndromic Congenital Heart Disease [RCV001142961]|not provided [RCV000731651] Chr20:10644903 [GRCh38]
Chr20:10625551 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.986C>A (p.Ser329Ter) single nucleotide variant not provided [RCV000732695] Chr20:10652151 [GRCh38]
Chr20:10632799 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2998A>G (p.Ile1000Val) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001855693]|Alagille syndrome due to a JAG1 point mutation [RCV002493345]|Cardiovascular phenotype [RCV002440574]|Isolated Nonsyndromic Congenital Heart Disease [RCV001138544]|not provided [RCV000732743] Chr20:10641163 [GRCh38]
Chr20:10621811 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2118_2119del (p.Asp706fs) deletion not provided [RCV000729654] Chr20:10645251..10645252 [GRCh38]
Chr20:10625899..10625900 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.5G>T (p.Arg2Leu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001270881]|Alagille syndrome due to a JAG1 point mutation [RCV002499351]|JAG1-related disorder [RCV004547925]|not provided [RCV000729658] Chr20:10673526 [GRCh38]
Chr20:10654174 [GRCh37]
Chr20:20p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000214.3(JAG1):c.3638G>A (p.Arg1213Gln) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001226725]|Alagille syndrome due to a JAG1 point mutation [RCV002485869]|JAG1-related disorder [RCV004740434]|not provided [RCV000729669] Chr20:10639517 [GRCh38]
Chr20:10620165 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.852_853del (p.Cys284_Glu285delinsTer) microsatellite not provided [RCV000729742] Chr20:10652501..10652502 [GRCh38]
Chr20:10633149..10633150 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1527C>A (p.Phe509Leu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001245527]|not provided [RCV000729751] Chr20:10648591 [GRCh38]
Chr20:10629239 [GRCh37]
Chr20:20p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000214.3(JAG1):c.1307G>A (p.Cys436Tyr) single nucleotide variant not provided [RCV000731663] Chr20:10649563 [GRCh38]
Chr20:10630211 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3286C>T (p.Arg1096Trp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001855764]|Cardiovascular phenotype [RCV003165975]|not provided [RCV000731732] Chr20:10639869 [GRCh38]
Chr20:10620517 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1396-2A>G single nucleotide variant not provided [RCV000731773] Chr20:10648724 [GRCh38]
Chr20:10629372 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.915G>A (p.Pro305=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002061005]|Cardiovascular phenotype [RCV003303216]|not provided [RCV000731774] Chr20:10652222 [GRCh38]
Chr20:10632870 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.756-1G>T single nucleotide variant not provided [RCV000732918] Chr20:10652599 [GRCh38]
Chr20:10633247 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1537T>C (p.Cys513Arg) single nucleotide variant not provided [RCV000732946] Chr20:10648581 [GRCh38]
Chr20:10629229 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.500G>A (p.Trp167Ter) single nucleotide variant not provided [RCV000729181] Chr20:10658662 [GRCh38]
Chr20:10639310 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1395+5_1395+7delinsATG indel not provided [RCV000729216] Chr20:10649054..10649056 [GRCh38]
Chr20:10629702..10629704 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1309G>A (p.Asp437Asn) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001855645]|Alagille syndrome due to a JAG1 point mutation [RCV002493329]|not provided [RCV000730832] Chr20:10649561 [GRCh38]
Chr20:10630209 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.382T>C (p.Trp128Arg) single nucleotide variant not provided [RCV000734912] Chr20:10672706 [GRCh38]
Chr20:10653354 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3127G>A (p.Asp1043Asn) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001340733]|Alagille syndrome due to a JAG1 point mutation [RCV002493364]|Cardiovascular phenotype [RCV004027097]|not provided [RCV000734924] Chr20:10640855 [GRCh38]
Chr20:10621503 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.2689_2693del (p.Cys897fs) deletion not provided [RCV000595100] Chr20:10641683..10641687 [GRCh38]
Chr20:10622331..10622335 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.294C>G (p.Ser98=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001501679]|Arteriohepatic dysplasia [RCV005002152]|Cardiovascular phenotype [RCV002440568]|Isolated Nonsyndromic Congenital Heart Disease [RCV001138323]|JAG1-related disorder [RCV004547924]|not provided [RCV000729278] Chr20:10672794 [GRCh38]
Chr20:10653442 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance|not provided
NM_000214.3(JAG1):c.2601_2603delinsTGATGCA (p.Ser868fs) indel not provided [RCV000729285] Chr20:10641862..10641864 [GRCh38]
Chr20:10622510..10622512 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3165_3184del (p.Arg1056fs) deletion not provided [RCV000730901] Chr20:10640798..10640817 [GRCh38]
Chr20:10621446..10621465 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.225C>A (p.Phe75Leu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000806141]|Arteriohepatic dysplasia [RCV005002155] Chr20:10672863 [GRCh38]
Chr20:10653511 [GRCh37]
Chr20:20p12.2		 uncertain significance|not provided
NM_000214.3(JAG1):c.695-10dup duplication Alagille syndrome due to a JAG1 point mutation [RCV001516543]|not provided [RCV000727971] Chr20:10656462..10656463 [GRCh38]
Chr20:10637110..10637111 [GRCh37]
Chr20:20p12.2		 benign|uncertain significance
NM_000214.3(JAG1):c.2727_2728dup (p.Glu910fs) duplication not provided [RCV000730980] Chr20:10641647..10641648 [GRCh38]
Chr20:10622295..10622296 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2011T>C (p.Cys671Arg) single nucleotide variant not provided [RCV000731002] Chr20:10645458 [GRCh38]
Chr20:10626106 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2877G>A (p.Ala959=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001487472]|Cardiovascular phenotype [RCV002440581]|not provided [RCV000734251] Chr20:10641499 [GRCh38]
Chr20:10622147 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.2458+2_2458+5del microsatellite not provided [RCV000734931] Chr20:10643773..10643776 [GRCh38]
Chr20:10624421..10624424 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3038A>T (p.His1013Leu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001399659]|Isolated Nonsyndromic Congenital Heart Disease [RCV001138116]|JAG1-related disorder [RCV004740440]|not provided [RCV000734933] Chr20:10641123 [GRCh38]
Chr20:10621771 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NC_000020.10:g.10621843A>AA single nucleotide variant not provided [RCV000735018] Chr20:10621843 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2345-1G>A single nucleotide variant not provided [RCV000729534] Chr20:10644385 [GRCh38]
Chr20:10625033 [GRCh37]
Chr20:20p12.2		 pathogenic
GRCh37/hg19 20p13-12.1(chr20:4392930-12667768)x1 copy number loss See cases [RCV000446718] Chr20:4392930..12667768 [GRCh37]
Chr20:20p13-12.1		 pathogenic
NM_000214.3(JAG1):c.1375C>A (p.Gln459Lys) single nucleotide variant not provided [RCV000522934] Chr20:10649081 [GRCh38]
Chr20:10629729 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1349-16C>G single nucleotide variant not specified [RCV000424523] Chr20:10649123 [GRCh38]
Chr20:10629771 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1120+10A>G single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000645025]|not specified [RCV000433010] Chr20:10651571 [GRCh38]
Chr20:10632219 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.1062C>T (p.Thr354=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001522311]|Cardiovascular phenotype [RCV000617755]|JAG1-related disorder [RCV004551476]|not provided [RCV001721325] Chr20:10651639 [GRCh38]
Chr20:10632287 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.399G>A (p.Thr133=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000528720]|Cardiovascular phenotype [RCV002374703]|JAG1-related disorder [RCV004551495]|not provided [RCV000732793]|not specified [RCV000423465] Chr20:10664003 [GRCh38]
Chr20:10644651 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
GRCh37/hg19 20p12.3-12.1(chr20:9121901-16858469)x1 copy number loss See cases [RCV000448674] Chr20:9121901..16858469 [GRCh37]
Chr20:20p12.3-12.1		 pathogenic
GRCh37/hg19 20p12.3-12.1(chr20:7352576-12248958)x3 copy number gain See cases [RCV000448374] Chr20:7352576..12248958 [GRCh37]
Chr20:20p12.3-12.1		 uncertain significance
NM_000214.3(JAG1):c.1110A>G (p.Thr370=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001470064] Chr20:10651591 [GRCh38]
Chr20:10632239 [GRCh37]
Chr20:20p12.2		 likely benign
GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3 copy number gain not provided [RCV000487461] Chr20:80198..26208081 [GRCh37]
Chr20:20p13-q11.21		 pathogenic
NM_000214.3(JAG1):c.1389C>T (p.Ser463=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000470452]|Cardiovascular phenotype [RCV002393190]|not provided [RCV001712316]|not specified [RCV000592068] Chr20:10649067 [GRCh38]
Chr20:10629715 [GRCh37]
Chr20:20p12.2		 benign|likely benign|uncertain significance
NM_000214.3(JAG1):c.863G>A (p.Trp288Ter) single nucleotide variant not provided [RCV000482433] Chr20:10652491 [GRCh38]
Chr20:10633139 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1353dup (p.Asn452Ter) duplication Alagille syndrome due to a JAG1 point mutation [RCV000459799] Chr20:10649102..10649103 [GRCh38]
Chr20:10629750..10629751 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.105C>T (p.Phe35=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000456850]|not provided [RCV001637039] Chr20:10672983 [GRCh38]
Chr20:10653631 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.3006C>A (p.Cys1002Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000468292] Chr20:10641155 [GRCh38]
Chr20:10621803 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2840del (p.Lys947fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV000461222] Chr20:10641536 [GRCh38]
Chr20:10622184 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.543T>A (p.Tyr181Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000476270] Chr20:10658619 [GRCh38]
Chr20:10639267 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.387+2T>C single nucleotide variant not provided [RCV000514731] Chr20:10672699 [GRCh38]
Chr20:10653347 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.439+10G>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000465246]|Alagille syndrome due to a JAG1 point mutation [RCV002496814]|JAG1-related disorder [RCV004551548]|not provided [RCV001709654]|not specified [RCV000591818] Chr20:10663953 [GRCh38]
Chr20:10644601 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.2688G>A (p.Trp896Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000461685] Chr20:10641688 [GRCh38]
Chr20:10622336 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2966dup (p.Leu989fs) duplication Alagille syndrome due to a JAG1 point mutation [RCV000469116]|not provided [RCV000735018] Chr20:10641194..10641195 [GRCh38]
Chr20:10621842..10621843 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2502C>T (p.Thr834=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002063676]|Cardiovascular phenotype [RCV004022945]|not provided [RCV000476761] Chr20:10642558 [GRCh38]
Chr20:10623206 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.82G>C (p.Val28Leu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001425112]|Arteriohepatic dysplasia [RCV005002144]|Cardiovascular phenotype [RCV002431387]|JAG1-related disorder [RCV004551579]|not provided [RCV000731757] Chr20:10673006 [GRCh38]
Chr20:10653654 [GRCh37]
Chr20:20p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000214.3(JAG1):c.2844C>A (p.Cys948Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000470074] Chr20:10641532 [GRCh38]
Chr20:10622180 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3467T>C (p.Val1156Ala) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000687251]|Alagille syndrome due to a JAG1 point mutation [RCV000765484]|not provided [RCV000730936] Chr20:10639688 [GRCh38]
Chr20:10620336 [GRCh37]
Chr20:20p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000214.3(JAG1):c.1043G>A (p.Arg348Lys) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001851388]|JAG1-related disorder [RCV004551623]|not provided [RCV001696920]|not specified [RCV000498912] Chr20:10651658 [GRCh38]
Chr20:10632306 [GRCh37]
Chr20:20p12.2		 pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000214.3(JAG1):c.71T>C (p.Leu24Pro) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000496949] Chr20:10673460 [GRCh38]
Chr20:10654108 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.648dup (p.Asn217fs) duplication not provided [RCV000493356] Chr20:10658513..10658514 [GRCh38]
Chr20:10639161..10639162 [GRCh37]
Chr20:20p12.2		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_000214.3(JAG1):c.355C>T (p.Arg119Cys) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000645017] Chr20:10672733 [GRCh38]
Chr20:10653381 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.700T>A (p.Cys234Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000645018] Chr20:10656453 [GRCh38]
Chr20:10637101 [GRCh37]
Chr20:20p12.2		 likely pathogenic|uncertain significance
NM_000214.3(JAG1):c.440-173C>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000645027]|not provided [RCV001662699] Chr20:10658895 [GRCh38]
Chr20:10658895..10658896 [GRCh38]
Chr20:10639543 [GRCh37]
Chr20:10639543..10639544 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.1794C>G (p.Val598=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000645028]|Alagille syndrome due to a JAG1 point mutation [RCV005034216] Chr20:10647030 [GRCh38]
Chr20:10627678 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.3525G>A (p.Ala1175=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002060663]|Cardiovascular phenotype [RCV000617270] Chr20:10639630 [GRCh38]
Chr20:10620278 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1915A>G (p.Arg639Gly) single nucleotide variant Cardiovascular phenotype [RCV003300867] Chr20:10646055 [GRCh38]
Chr20:10626703 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1047C>A (p.Gly349=) single nucleotide variant Cardiovascular phenotype [RCV003300868] Chr20:10651654 [GRCh38]
Chr20:10632302 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3545A>T (p.Glu1182Val) single nucleotide variant Cardiovascular phenotype [RCV003278240] Chr20:10639610 [GRCh38]
Chr20:10620258 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3348G>A (p.Arg1116=) single nucleotide variant Cardiovascular phenotype [RCV003278241] Chr20:10639807 [GRCh38]
Chr20:10620455 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.84G>A (p.Val28=) single nucleotide variant Cardiovascular phenotype [RCV003278243] Chr20:10673004 [GRCh38]
Chr20:10653652 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1415G>A (p.Arg472His) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002065158]|JAG1-related disorder [RCV004553316]|not provided [RCV000596400] Chr20:10648703 [GRCh38]
Chr20:10629351 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.1430C>T (p.Pro477Leu) single nucleotide variant Cardiovascular phenotype [RCV004024713]|not provided [RCV000596530] Chr20:10648688 [GRCh38]
Chr20:10629336 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3308C>A (p.Thr1103Lys) single nucleotide variant not provided [RCV000596695] Chr20:10639847 [GRCh38]
Chr20:10620495 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3652G>A (p.Val1218Ile) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001854061]|Alagille syndrome due to a JAG1 point mutation [RCV002491208]|Cardiovascular phenotype [RCV002456305]|JAG1-related disorder [RCV004553327]|not provided [RCV000596800] Chr20:10639503 [GRCh38]
Chr20:10620151 [GRCh37]
Chr20:20p12.2		 benign|uncertain significance
NM_000214.3(JAG1):c.3309A>C (p.Thr1103=) single nucleotide variant not provided [RCV000595319] Chr20:10639846 [GRCh38]
Chr20:10620494 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.388-19TTGT[2] microsatellite Alagille syndrome due to a JAG1 point mutation [RCV000539681] Chr20:10664022..10664025 [GRCh38]
Chr20:10644670..10644673 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.3140C>A (p.Ser1047Ter) single nucleotide variant Inborn genetic diseases [RCV000624847] Chr20:10640842 [GRCh38]
Chr20:10621490 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2451C>T (p.Cys817=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003509576]|Cardiovascular phenotype [RCV004024771]|not provided [RCV000595685] Chr20:10643785 [GRCh38]
Chr20:10624433 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.2959A>T (p.Asn987Tyr) single nucleotide variant Cardiovascular phenotype [RCV003306801] Chr20:10641202 [GRCh38]
Chr20:10621850 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1551C>T (p.Phe517=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005102797]|Cardiovascular phenotype [RCV003306802] Chr20:10648567 [GRCh38]
Chr20:10629215 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.2005A>G (p.Asn669Asp) single nucleotide variant Cardiovascular phenotype [RCV003306803] Chr20:10645464 [GRCh38]
Chr20:10626112 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2515A>T (p.Ile839Phe) single nucleotide variant Cardiovascular phenotype [RCV003306804] Chr20:10642545 [GRCh38]
Chr20:10623193 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2132A>T (p.Glu711Val) single nucleotide variant Cardiovascular phenotype [RCV003306806] Chr20:10645238 [GRCh38]
Chr20:10625886 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.350del (p.Arg117fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV000645010] Chr20:10672738 [GRCh38]
Chr20:10653386 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2728G>A (p.Glu910Lys) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000645015] Chr20:10641648 [GRCh38]
Chr20:10622296 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.51G>A (p.Leu17=) single nucleotide variant Cardiovascular phenotype [RCV002333991]|not provided [RCV004704121]|not specified [RCV000609451] Chr20:10673480 [GRCh38]
Chr20:10654128 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2113+5G>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000625818] Chr20:10645351 [GRCh38]
Chr20:10625999 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3333C>T (p.Thr1111=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001438917]|Cardiovascular phenotype [RCV002325178]|Isolated Nonsyndromic Congenital Heart Disease [RCV001142858]|JAG1-related disorder [RCV004547743]|not specified [RCV000615139] Chr20:10639822 [GRCh38]
Chr20:10620470 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.851G>C (p.Cys284Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002146]|not provided [RCV000595926] Chr20:10652503 [GRCh38]
Chr20:10633151 [GRCh37]
Chr20:20p12.2		 uncertain significance|not provided
NM_000214.3(JAG1):c.-75_-61dup duplication not specified [RCV000607256] Chr20:10673590..10673591 [GRCh38]
Chr20:10654238..10654239 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3280C>T (p.Arg1094Trp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001401841]|JAG1-related disorder [RCV004553330]|not provided [RCV000597293] Chr20:10639875 [GRCh38]
Chr20:10620523 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.1117A>G (p.Thr373Ala) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001868072]|Cardiovascular phenotype [RCV003362862]|not specified [RCV000610679] Chr20:10651584 [GRCh38]
Chr20:10632232 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.2225_2226del (p.Ile742fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV005091558]|not provided [RCV000597797] Chr20:10645144..10645145 [GRCh38]
Chr20:10625792..10625793 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3296C>T (p.Pro1099Leu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000864526]|Cardiovascular phenotype [RCV004024717]|JAG1-related disorder [RCV004553312]|not provided [RCV001712606]|not specified [RCV000595584] Chr20:10639859 [GRCh38]
Chr20:10620507 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3168_3169del (p.Arg1056fs) microsatellite Arteriohepatic dysplasia [RCV000627057] Chr20:10640813..10640814 [GRCh38]
Chr20:10621461..10621462 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.33G>T (p.Gly11=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003509802]|Cardiovascular phenotype [RCV003278242] Chr20:10673498 [GRCh38]
Chr20:10654146 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.695-1G>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003315128] Chr20:10656459 [GRCh38]
Chr20:10637107 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.2459-2A>G single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003315191] Chr20:10642603 [GRCh38]
Chr20:10623251 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.2827C>T (p.Pro943Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000533650]|Alagille syndrome due to a JAG1 point mutation [RCV002491063]|Cardiovascular phenotype [RCV004024061] Chr20:10641549 [GRCh38]
Chr20:10622197 [GRCh37]
Chr20:20p12.2		 benign|uncertain significance
NM_000214.3(JAG1):c.925G>C (p.Gly309Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001042284]|Cardiovascular phenotype [RCV000619191]|JAG1-related disorder [RCV004547758] Chr20:10652212 [GRCh38]
Chr20:10632860 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.634T>C (p.Cys212Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000553685] Chr20:10658528 [GRCh38]
Chr20:10639176 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.1615C>T (p.Gln539Ter) single nucleotide variant not provided [RCV000578808] Chr20:10648065 [GRCh38]
Chr20:10628713 [GRCh37]
Chr20:20p12.2		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_000214.3(JAG1):c.1352T>A (p.Ile451Asn) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005091760]|Cardiovascular phenotype [RCV000621939]|not provided [RCV002274070] Chr20:10649104 [GRCh38]
Chr20:10629752 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3560A>G (p.Asn1187Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001860182]|not provided [RCV000595898] Chr20:10639595 [GRCh38]
Chr20:10620243 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.2429C>T (p.Pro810Leu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000626071]|Tetralogy of Fallot [RCV000755708]|not provided [RCV000730482] Chr20:10643807 [GRCh38]
Chr20:10624455 [GRCh37]
Chr20:20p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000214.3(JAG1):c.3164_3167del (p.Val1055fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV000594760]|not provided [RCV000726702] Chr20:10640815..10640818 [GRCh38]
Chr20:10621463..10621466 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.851G>T (p.Cys284Phe) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000645009]|Arteriohepatic dysplasia [RCV005002149] Chr20:10652503 [GRCh38]
Chr20:10633151 [GRCh37]
Chr20:20p12.2		 uncertain significance|not provided
NM_000214.3(JAG1):c.932del (p.Thr311fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV000645011] Chr20:10652205 [GRCh38]
Chr20:10632853 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2774_2788delinsCCAGGGCA (p.Cys925fs) indel Alagille syndrome due to a JAG1 point mutation [RCV000645013] Chr20:10641588..10641602 [GRCh38]
Chr20:10622236..10622250 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.722A>G (p.Lys241Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000645014]|not provided [RCV004692019] Chr20:10656431 [GRCh38]
Chr20:10637079 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3391G>A (p.Ala1131Thr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000645016]|Alagille syndrome due to a JAG1 point mutation [RCV000765485]|JAG1-related disorder [RCV004547815] Chr20:10639764 [GRCh38]
Chr20:10620412 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.2473C>T (p.Gln825Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000645020] Chr20:10642587 [GRCh38]
Chr20:10623235 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2445C>T (p.Pro815=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000645021]|Cardiovascular phenotype [RCV002449038]|Isolated Nonsyndromic Congenital Heart Disease [RCV001141110]|JAG1-related disorder [RCV004740381] Chr20:10643791 [GRCh38]
Chr20:10624439 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1365T>G (p.Leu455=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000645026] Chr20:10649091 [GRCh38]
Chr20:10629739 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1755C>T (p.Asn585=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001079881]|Cardiovascular phenotype [RCV002413683]|Isolated Nonsyndromic Congenital Heart Disease [RCV001138226]|not provided [RCV000597479] Chr20:10647069 [GRCh38]
Chr20:10627717 [GRCh37]
Chr20:20p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000214.2(JAG1):c.358dup (p.Ile120Asnfs) duplication not provided [RCV000597838] Chr20:10672729..10672730 [GRCh38]
Chr20:10653377..10653378 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.347A>T (p.Asp116Val) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001228289] Chr20:10672741 [GRCh38]
Chr20:10653389 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2173dup (p.Asp725fs) duplication Alagille syndrome due to a JAG1 point mutation [RCV000685179]|not provided [RCV003328620] Chr20:10645196..10645197 [GRCh38]
Chr20:10625844..10625845 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1914T>G (p.Cys638Trp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000698454] Chr20:10646056 [GRCh38]
Chr20:10626704 [GRCh37]
Chr20:20p12.2		 uncertain significance
GRCh37/hg19 20p12.3-12.1(chr20:7604120-14739025)x3 copy number gain not provided [RCV000684133] Chr20:7604120..14739025 [GRCh37]
Chr20:20p12.3-12.1		 pathogenic
GRCh37/hg19 20p13-12.1(chr20:3092739-17091453)x1 copy number loss not provided [RCV000684134] Chr20:3092739..17091453 [GRCh37]
Chr20:20p13-12.1		 pathogenic
NM_000214.3(JAG1):c.2393T>A (p.Val798Glu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000686596]|Cardiovascular phenotype [RCV002458204]|JAG1-related disorder [RCV004547854]|not provided [RCV000734290] Chr20:10643843 [GRCh38]
Chr20:10624491 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1367G>A (p.Gly456Asp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000694563]|Alagille syndrome due to a JAG1 point mutation [RCV002477575]|not provided [RCV000732141] Chr20:10649089 [GRCh38]
Chr20:10629737 [GRCh37]
Chr20:20p12.2		 benign|uncertain significance
NM_000214.3(JAG1):c.2113+1G>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000708596] Chr20:10645355 [GRCh38]
Chr20:10626003 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2077T>C (p.Cys693Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000704696] Chr20:10645392 [GRCh38]
Chr20:10626040 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2801G>A (p.Gly934Asp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000695583]|not provided [RCV000731740] Chr20:10641575 [GRCh38]
Chr20:10622223 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.870C>T (p.Gly290=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000696223] Chr20:10652484 [GRCh38]
Chr20:10633132 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NC_000020.11:g.(?_10639478)_(10639975_?)del deletion Alagille syndrome due to a JAG1 point mutation [RCV000708091] Chr20:10639478..10639975 [GRCh38]
Chr20:10620126..10620623 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.878G>A (p.Cys293Tyr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000696810]|Arteriohepatic dysplasia [RCV005002150]|Cardiovascular phenotype [RCV002369896] Chr20:10652476 [GRCh38]
Chr20:10633124 [GRCh37]
Chr20:20p12.2		 pathogenic|uncertain significance|not provided
NM_000214.3(JAG1):c.2458+143G>A single nucleotide variant not provided [RCV001609244] Chr20:10643635 [GRCh38]
Chr20:10624283 [GRCh37]
Chr20:20p12.2		 benign
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p12.2(chr20:10384819-10650354)x3 copy number gain not provided [RCV000741103] Chr20:10384819..10650354 [GRCh37]
Chr20:20p12.2		 benign
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_000214.3(JAG1):c.1006+202C>T single nucleotide variant not provided [RCV001537303] Chr20:10651929 [GRCh38]
Chr20:10632577 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3318C>T (p.Ala1106=) single nucleotide variant not provided [RCV000976676] Chr20:10639837 [GRCh38]
Chr20:10620485 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.694+270C>A single nucleotide variant not provided [RCV001611407] Chr20:10658198 [GRCh38]
Chr20:10638846 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.2458+236T>C single nucleotide variant not provided [RCV001724918] Chr20:10643542 [GRCh38]
Chr20:10624190 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.2228-68G>A single nucleotide variant not provided [RCV001708889] Chr20:10645047 [GRCh38]
Chr20:10625695 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.3114T>G (p.Leu1038=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001514199]|Cardiovascular phenotype [RCV002319956]|Isolated Nonsyndromic Congenital Heart Disease [RCV001138115] Chr20:10640868 [GRCh38]
Chr20:10621516 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.2459-345C>T single nucleotide variant not provided [RCV001585049] Chr20:10642946 [GRCh38]
Chr20:10623594 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.755+113T>A single nucleotide variant not provided [RCV001667673] Chr20:10656285 [GRCh38]
Chr20:10636933 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.1395+81T>G single nucleotide variant not provided [RCV001645298] Chr20:10648980 [GRCh38]
Chr20:10629628 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.2227+50G>C single nucleotide variant not provided [RCV001666517] Chr20:10645093 [GRCh38]
Chr20:10625741 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.439+170T>C single nucleotide variant not provided [RCV001567213] Chr20:10663793 [GRCh38]
Chr20:10644441 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1635T>C (p.Ser545=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005092863] Chr20:10648045 [GRCh38]
Chr20:10628693 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3007_3013dup (p.Ser1005Ter) duplication Arteriohepatic dysplasia [RCV000761246] Chr20:10641147..10641148 [GRCh38]
Chr20:10621795..10621796 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.2172_2173dup (p.Asp725fs) duplication Alagille syndrome due to a JAG1 point mutation [RCV001052880]|Alagille syndrome due to a JAG1 point mutation [RCV005029621] Chr20:10645196..10645197 [GRCh38]
Chr20:10625844..10625845 [GRCh37]
Chr20:20p12.2		 pathogenic|likely pathogenic
NM_000214.3(JAG1):c.1115C>T (p.Ser372Phe) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001053508]|Alagille syndrome due to a JAG1 point mutation [RCV005036347]|Cardiovascular phenotype [RCV002436610]|JAG1-related disorder [RCV004553593] Chr20:10651586 [GRCh38]
Chr20:10632234 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.190del (p.Arg64fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV003314444] Chr20:10672898 [GRCh38]
Chr20:10653546 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.2358C>A (p.Cys786Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001580380] Chr20:10644371 [GRCh38]
Chr20:10625019 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.499T>C (p.Trp167Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001056108]|Arteriohepatic dysplasia [RCV005002160] Chr20:10658663 [GRCh38]
Chr20:10639311 [GRCh37]
Chr20:20p12.2		 uncertain significance|not provided
NM_000214.3(JAG1):c.886+1G>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000990290] Chr20:10652467 [GRCh38]
Chr20:10633115 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2572+194C>G single nucleotide variant not provided [RCV001548460] Chr20:10642294 [GRCh38]
Chr20:10622942 [GRCh37]
Chr20:20p12.2		 likely benign
NC_000020.11:g.10674275C>G single nucleotide variant not provided [RCV001681239] Chr20:10674275 [GRCh38]
Chr20:10654923 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.1569+68T>G single nucleotide variant not provided [RCV001709341] Chr20:10648481 [GRCh38]
Chr20:10629129 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.1006+7G>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001445298] Chr20:10652124 [GRCh38]
Chr20:10632772 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1182C>T (p.Asn394=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000867237]|Cardiovascular phenotype [RCV002336790] Chr20:10650299 [GRCh38]
Chr20:10630947 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.435C>A (p.Thr145=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001432704]|JAG1-related disorder [RCV004549940]|not specified [RCV004526039] Chr20:10663967 [GRCh38]
Chr20:10644615 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3561C>T (p.Asn1187=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001484132]|Cardiovascular phenotype [RCV002453963] Chr20:10639594 [GRCh38]
Chr20:10620242 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1377_1378del (p.Gln459_Asn460insTer) deletion Alagille syndrome due to a JAG1 point mutation [RCV001030431] Chr20:10649078..10649079 [GRCh38]
Chr20:10629726..10629727 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2792C>T (p.Thr931Ile) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001044255]|Alagille syndrome due to a JAG1 point mutation [RCV002481911] Chr20:10641584 [GRCh38]
Chr20:10622232 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.379G>A (p.Ala127Thr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001050677] Chr20:10672709 [GRCh38]
Chr20:10653357 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3589A>G (p.Thr1197Ala) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001050802] Chr20:10639566 [GRCh38]
Chr20:10620214 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.232T>C (p.Cys78Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001007645]|Arteriohepatic dysplasia [RCV005002156] Chr20:10672856 [GRCh38]
Chr20:10653504 [GRCh37]
Chr20:20p12.2		 pathogenic|not provided
NM_000214.3(JAG1):c.233G>C (p.Cys78Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001007647]|Arteriohepatic dysplasia [RCV005002158] Chr20:10672855 [GRCh38]
Chr20:10653503 [GRCh37]
Chr20:20p12.2		 pathogenic|not provided
NM_000214.3(JAG1):c.3007G>A (p.Glu1003Lys) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001047259]|Alagille syndrome due to a JAG1 point mutation [RCV002497386]|JAG1-related disorder [RCV004553584] Chr20:10641154 [GRCh38]
Chr20:10621802 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.1720G>T (p.Val574Leu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001035535] Chr20:10647960 [GRCh38]
Chr20:10628608 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.292T>C (p.Ser98Pro) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001070125] Chr20:10672796 [GRCh38]
Chr20:10653444 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.573C>T (p.Tyr191=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001437293]|not provided [RCV000827305] Chr20:10658589 [GRCh38]
Chr20:10639237 [GRCh37]
Chr20:20p12.2		 likely benign
GRCh37/hg19 20p12.2(chr20:10124855-11479105) copy number loss Alagille syndrome due to a JAG1 point mutation [RCV000767624] Chr20:10124855..11479105 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1916G>A (p.Arg639Lys) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003619829]|Cardiovascular phenotype [RCV004291385] Chr20:10646054 [GRCh38]
Chr20:10626702 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3567G>A (p.Thr1189=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001429077]|Alagille syndrome due to a JAG1 point mutation [RCV002495201]|Cardiovascular phenotype [RCV002453919]|not provided [RCV000841204] Chr20:10639588 [GRCh38]
Chr20:10620236 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3291G>C (p.Arg1097=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002536132]|not provided [RCV000841382] Chr20:10639864 [GRCh38]
Chr20:10620512 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3008_3012dup (p.Pro1006fs) duplication Alagille syndrome due to a JAG1 point mutation [RCV000799333] Chr20:10641148..10641149 [GRCh38]
Chr20:10621796..10621797 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1375C>T (p.Gln459Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000823114] Chr20:10649081 [GRCh38]
Chr20:10629729 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3006C>T (p.Cys1002=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000807148]|Cardiovascular phenotype [RCV004028610]|JAG1-related disorder [RCV004549881] Chr20:10641155 [GRCh38]
Chr20:10621803 [GRCh37]
Chr20:20p12.2		 benign|likely benign|uncertain significance
NM_000214.3(JAG1):c.1856_1857del (p.Lys619fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV000803679] Chr20:10646967..10646968 [GRCh38]
Chr20:10627615..10627616 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2532T>A (p.Cys844Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000811911] Chr20:10642528 [GRCh38]
Chr20:10623176 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.440-3T>C single nucleotide variant not provided [RCV000840656] Chr20:10658725 [GRCh38]
Chr20:10639373 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1318C>T (p.Pro440Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000820652]|Cardiovascular phenotype [RCV004629351] Chr20:10649552 [GRCh38]
Chr20:10630200 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.142G>T (p.Glu48Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000793200] Chr20:10672946 [GRCh38]
Chr20:10653594 [GRCh37]
Chr20:20p12.2		 pathogenic
NC_000020.11:g.(?_10253609)_(10673550_?)del deletion Alagille syndrome due to a JAG1 point mutation [RCV000807930] Chr20:10253609..10673550 [GRCh38]
Chr20:10234257..10654198 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.236_251del (p.Leu79fs) deletion not provided [RCV000997747] Chr20:10672837..10672852 [GRCh38]
Chr20:10653485..10653500 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.139_159del (p.Gly47_Asn53del) deletion Alagille syndrome due to a JAG1 point mutation [RCV000807637] Chr20:10672929..10672949 [GRCh38]
Chr20:10653577..10653597 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1977G>A (p.Trp659Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000823654] Chr20:10645993 [GRCh38]
Chr20:10626641 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3168A>C (p.Arg1056Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001461604]|Alagille syndrome due to a JAG1 point mutation [RCV005036411]|Isolated Nonsyndromic Congenital Heart Disease [RCV001138112]|JAG1-related disorder [RCV004548012] Chr20:10640814 [GRCh38]
Chr20:10621462 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.3154G>A (p.Val1052Ile) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001856763]|Cardiovascular phenotype [RCV002320371]|Isolated Nonsyndromic Congenital Heart Disease [RCV001138113] Chr20:10640828 [GRCh38]
Chr20:10621476 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.1791C>T (p.Asn597=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002070622]|Isolated Nonsyndromic Congenital Heart Disease [RCV001138225]|JAG1-related disorder [RCV004740581] Chr20:10647033 [GRCh38]
Chr20:10627681 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1659G>T (p.Glu553Asp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001856770]|Cardiovascular phenotype [RCV004032320]|Isolated Nonsyndromic Congenital Heart Disease [RCV001138227]|JAG1-related disorder [RCV004548013] Chr20:10648021 [GRCh38]
Chr20:10628669 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.222C>T (p.Tyr74=) single nucleotide variant not provided [RCV000828450] Chr20:10672866 [GRCh38]
Chr20:10653514 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.*1440A>G single nucleotide variant Isolated Nonsyndromic Congenital Heart Disease [RCV001138022] Chr20:10638058 [GRCh38]
Chr20:10618706 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2227+9A>G single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001446920]|not provided [RCV000829386] Chr20:10645134 [GRCh38]
Chr20:10625782 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1057G>T (p.Glu353Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000792631]|Cardiovascular phenotype [RCV002397567] Chr20:10651644 [GRCh38]
Chr20:10632292 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1875C>T (p.Tyr625=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000873195] Chr20:10646949 [GRCh38]
Chr20:10627597 [GRCh37]
Chr20:20p12.2		 likely benign
NC_000020.11:g.10664018C>G single nucleotide variant not provided [RCV000840668] Chr20:10644666 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2507_2508del (p.Val836fs) microsatellite Alagille syndrome due to a JAG1 point mutation [RCV000807681] Chr20:10642552..10642553 [GRCh38]
Chr20:10623200..10623201 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.238A>T (p.Lys80Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000819337] Chr20:10672850 [GRCh38]
Chr20:10653498 [GRCh37]
Chr20:20p12.2		 pathogenic
NC_000020.11:g.10663962C>T single nucleotide variant Midaortic syndrome [RCV000845195]   likely pathogenic
NM_000214.3(JAG1):c.1313G>A (p.Cys438Tyr) single nucleotide variant Atypical coarctation of aorta [RCV000845196] Chr20:10649557 [GRCh38]
Chr20:10630205 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.2092_2093insG (p.Lys698fs) insertion Atypical coarctation of aorta [RCV000845197] Chr20:10645376..10645377 [GRCh38]
Chr20:10626024..10626025 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.3149C>T (p.Ala1050Val) single nucleotide variant not provided [RCV000842418] Chr20:10640833 [GRCh38]
Chr20:10621481 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1023C>T (p.Leu341=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002559337]|Isolated Nonsyndromic Congenital Heart Disease [RCV001138648] Chr20:10651678 [GRCh38]
Chr20:10632326 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.-75A>G single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002482265]|Isolated Nonsyndromic Congenital Heart Disease [RCV001138745]|not provided [RCV004694858] Chr20:10673605 [GRCh38]
Chr20:10654253 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.301G>C (p.Val101Leu) single nucleotide variant not provided [RCV000997746] Chr20:10672787 [GRCh38]
Chr20:10653435 [GRCh37]
Chr20:20p12.2		 likely pathogenic
GRCh37/hg19 20p12.3-11.22(chr20:8571696-22088650)x1 copy number loss not provided [RCV001007080] Chr20:8571696..22088650 [GRCh37]
Chr20:20p12.3-11.22		 pathogenic
NM_000214.3(JAG1):c.2803G>T (p.Glu935Ter) single nucleotide variant not provided [RCV001007988] Chr20:10641573 [GRCh38]
Chr20:10622221 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.48C>A (p.Leu16=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000870528]|Cardiovascular phenotype [RCV003307634]|Isolated Nonsyndromic Congenital Heart Disease [RCV001138743] Chr20:10673483 [GRCh38]
Chr20:10654131 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.2101A>C (p.Thr701Pro) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000990289] Chr20:10645368 [GRCh38]
Chr20:10626016 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.962_964dup (p.Cys322Ter) duplication not provided [RCV001008030] Chr20:10652172..10652173 [GRCh38]
Chr20:10632820..10632821 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.232T>G (p.Cys78Gly) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001007646]|Arteriohepatic dysplasia [RCV005002157] Chr20:10672856 [GRCh38]
Chr20:10653504 [GRCh37]
Chr20:20p12.2		 pathogenic|not provided
NM_000214.3(JAG1):c.3245_3257del (p.Ile1082fs) deletion not provided [RCV001172140] Chr20:10639898..10639910 [GRCh38]
Chr20:10620546..10620558 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3523G>A (p.Ala1175Thr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001207078]|Alagille syndrome due to a JAG1 point mutation [RCV005036461]|not provided [RCV004695167] Chr20:10639632 [GRCh38]
Chr20:10620280 [GRCh37]
Chr20:20p12.2		 benign|uncertain significance
NM_000214.3(JAG1):c.1657G>T (p.Glu553Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001212752] Chr20:10648023 [GRCh38]
Chr20:10628671 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1442G>A (p.Gly481Asp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001231895] Chr20:10648676 [GRCh38]
Chr20:10629324 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3287G>A (p.Arg1096Gln) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001238939]|Alagille syndrome due to a JAG1 point mutation [RCV002484304]|Cardiovascular phenotype [RCV004034592]|JAG1-related disorder [RCV004740627]|not provided [RCV001751471] Chr20:10639868 [GRCh38]
Chr20:10620516 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.487C>T (p.Pro163Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001242612] Chr20:10658675 [GRCh38]
Chr20:10639323 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.442C>T (p.Pro148Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001211646]|Cardiovascular phenotype [RCV004994331] Chr20:10658720 [GRCh38]
Chr20:10639368 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3566C>T (p.Thr1189Met) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001238244]|Cardiovascular phenotype [RCV004629513]|JAG1-related disorder [RCV004740624] Chr20:10639589 [GRCh38]
Chr20:10620237 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.1013del (p.His338fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV001211558] Chr20:10651688 [GRCh38]
Chr20:10632336 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.694+3_694+4del deletion Alagille syndrome due to a JAG1 point mutation [RCV001240123] Chr20:10658464..10658465 [GRCh38]
Chr20:10639112..10639113 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2609T>C (p.Ile870Thr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001242041]|Alagille syndrome due to a JAG1 point mutation [RCV005036524] Chr20:10641856 [GRCh38]
Chr20:10622504 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.1563_1564del (p.Cys522fs) microsatellite Alagille syndrome due to a JAG1 point mutation [RCV001232034]|Cardiovascular phenotype [RCV002402725] Chr20:10648554..10648555 [GRCh38]
Chr20:10629202..10629203 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.228del (p.Val77fs) deletion Tetralogy of Fallot [RCV001196540] Chr20:10672860 [GRCh38]
Chr20:10653508 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.578del (p.Gly193fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV001240172] Chr20:10658584 [GRCh38]
Chr20:10639232 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1223C>T (p.Thr408Met) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001227723]|Cardiovascular phenotype [RCV004032610] Chr20:10650258 [GRCh38]
Chr20:10630906 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3260C>T (p.Thr1087Met) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001234479]|Alagille syndrome due to a JAG1 point mutation [RCV005029807]|Cardiovascular phenotype [RCV002322124] Chr20:10639895 [GRCh38]
Chr20:10620543 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.1309G>C (p.Asp437His) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001230217] Chr20:10649561 [GRCh38]
Chr20:10630209 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3233C>G (p.Thr1078Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001208057] Chr20:10639922 [GRCh38]
Chr20:10620570 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.82-1G>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001248635] Chr20:10673007 [GRCh38]
Chr20:10653655 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.826T>C (p.Cys276Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001233030] Chr20:10652528 [GRCh38]
Chr20:10633176 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1720G>C (p.Val574Leu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001219403]|JAG1-related disorder [RCV004548074] Chr20:10647960 [GRCh38]
Chr20:10628608 [GRCh37]
Chr20:20p12.2		 pathogenic|likely pathogenic
NM_000214.3(JAG1):c.3032A>G (p.Glu1011Gly) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001233763] Chr20:10641129 [GRCh38]
Chr20:10621777 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.439+9C>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001481233]|Isolated Nonsyndromic Congenital Heart Disease [RCV001143066]|JAG1-related disorder [RCV004548025] Chr20:10663954 [GRCh38]
Chr20:10644602 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.2665C>T (p.Arg889Trp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002032345]|Cardiovascular phenotype [RCV003353171]|Isolated Nonsyndromic Congenital Heart Disease [RCV001141106]|JAG1-related disorder [RCV004548019] Chr20:10641800 [GRCh38]
Chr20:10622448 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.-458C>T single nucleotide variant Isolated Nonsyndromic Congenital Heart Disease [RCV001141325]|not provided [RCV001586002] Chr20:10673988 [GRCh38]
Chr20:10654636 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.708A>G (p.Gln236=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001240053] Chr20:10656445 [GRCh38]
Chr20:10637093 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.3179G>A (p.Arg1060Gln) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003509653]|Cardiovascular phenotype [RCV004032318]|Isolated Nonsyndromic Congenital Heart Disease [RCV001138111] Chr20:10640803 [GRCh38]
Chr20:10621451 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.868G>A (p.Gly290Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001242935]|Alagille syndrome due to a JAG1 point mutation [RCV002491811]|not provided [RCV002224037] Chr20:10652486 [GRCh38]
Chr20:10633134 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.962A>G (p.Gln321Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001232751] Chr20:10652175 [GRCh38]
Chr20:10632823 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2252A>G (p.Asn751Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001237281] Chr20:10644955 [GRCh38]
Chr20:10625603 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.760C>A (p.Gln254Lys) single nucleotide variant Arteriohepatic dysplasia [RCV005002535] Chr20:10652594 [GRCh38]
Chr20:10633242 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.116T>G (p.Ile39Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002544] Chr20:10672972 [GRCh38]
Chr20:10653620 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.798C>A (p.Ile266=) single nucleotide variant Arteriohepatic dysplasia [RCV005002545] Chr20:10652556 [GRCh38]
Chr20:10633204 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.837C>T (p.Pro279=) single nucleotide variant Arteriohepatic dysplasia [RCV005002549] Chr20:10652517 [GRCh38]
Chr20:10633165 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.836C>T (p.Pro279Leu) single nucleotide variant Arteriohepatic dysplasia [RCV005002550] Chr20:10652518 [GRCh38]
Chr20:10633166 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.116T>C (p.Ile39Thr) single nucleotide variant Arteriohepatic dysplasia [RCV005002554] Chr20:10672972 [GRCh38]
Chr20:10653620 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.877T>G (p.Cys293Gly) single nucleotide variant Arteriohepatic dysplasia [RCV005002561] Chr20:10652477 [GRCh38]
Chr20:10633125 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.900T>G (p.Cys300Trp) single nucleotide variant Arteriohepatic dysplasia [RCV005002571] Chr20:10652237 [GRCh38]
Chr20:10632885 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.124A>G (p.Met42Val) single nucleotide variant Arteriohepatic dysplasia [RCV005002575] Chr20:10672964 [GRCh38]
Chr20:10653612 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.932C>A (p.Thr311Asn) single nucleotide variant Arteriohepatic dysplasia [RCV005002577] Chr20:10652205 [GRCh38]
Chr20:10632853 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.224T>G (p.Phe75Cys) single nucleotide variant Arteriohepatic dysplasia [RCV005002595] Chr20:10672864 [GRCh38]
Chr20:10653512 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.279C>A (p.Ser93Arg) single nucleotide variant Arteriohepatic dysplasia [RCV005002604] Chr20:10672809 [GRCh38]
Chr20:10653457 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.283G>T (p.Gly95Cys) single nucleotide variant Arteriohepatic dysplasia [RCV005002607] Chr20:10672805 [GRCh38]
Chr20:10653453 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.360C>A (p.Ile120=) single nucleotide variant Arteriohepatic dysplasia [RCV005002615] Chr20:10672728 [GRCh38]
Chr20:10653376 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.394T>A (p.Tyr132Asn) single nucleotide variant Arteriohepatic dysplasia [RCV005002623] Chr20:10664008 [GRCh38]
Chr20:10644656 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.403C>G (p.Leu135Val) single nucleotide variant Arteriohepatic dysplasia [RCV005002628] Chr20:10663999 [GRCh38]
Chr20:10644647 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.407T>G (p.Val136Gly) single nucleotide variant Arteriohepatic dysplasia [RCV005002629] Chr20:10663995 [GRCh38]
Chr20:10644643 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.876C>T (p.Leu292=) single nucleotide variant Arteriohepatic dysplasia [RCV005002559] Chr20:10652478 [GRCh38]
Chr20:10633126 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.793T>C (p.Cys265Arg) single nucleotide variant Arteriohepatic dysplasia [RCV005002543] Chr20:10652561 [GRCh38]
Chr20:10633209 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.890T>C (p.Leu297Pro) single nucleotide variant Arteriohepatic dysplasia [RCV005002567] Chr20:10652247 [GRCh38]
Chr20:10632895 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.997T>A (p.Cys333Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002582] Chr20:10652140 [GRCh38]
Chr20:10632788 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.129G>C (p.Gln43His) single nucleotide variant Arteriohepatic dysplasia [RCV005002583] Chr20:10672959 [GRCh38]
Chr20:10653607 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.140G>C (p.Gly47Ala) single nucleotide variant Arteriohepatic dysplasia [RCV005002586] Chr20:10672948 [GRCh38]
Chr20:10653596 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.143A>C (p.Glu48Ala) single nucleotide variant Arteriohepatic dysplasia [RCV005002587] Chr20:10672945 [GRCh38]
Chr20:10653593 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.282C>A (p.Phe94Leu) single nucleotide variant Arteriohepatic dysplasia [RCV005002605] Chr20:10672806 [GRCh38]
Chr20:10653454 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.305T>A (p.Ile102Asn) single nucleotide variant Arteriohepatic dysplasia [RCV005002612] Chr20:10672783 [GRCh38]
Chr20:10653431 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.365T>A (p.Leu122Gln) single nucleotide variant Arteriohepatic dysplasia [RCV005002617] Chr20:10672723 [GRCh38]
Chr20:10653371 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.392C>A (p.Ser131Tyr) single nucleotide variant Arteriohepatic dysplasia [RCV005002620] Chr20:10664010 [GRCh38]
Chr20:10644658 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.401T>C (p.Leu134Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002627] Chr20:10664001 [GRCh38]
Chr20:10644649 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.407T>A (p.Val136Glu) single nucleotide variant Arteriohepatic dysplasia [RCV005002630] Chr20:10663995 [GRCh38]
Chr20:10644643 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.409G>A (p.Glu137Lys) single nucleotide variant Arteriohepatic dysplasia [RCV005002631] Chr20:10663993 [GRCh38]
Chr20:10644641 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.694+55A>G single nucleotide variant not provided [RCV001713198] Chr20:10658413 [GRCh38]
Chr20:10639061 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.756-67A>G single nucleotide variant not provided [RCV001679039] Chr20:10652665 [GRCh38]
Chr20:10633313 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.2000-190_2000-188dup duplication not provided [RCV001560551] Chr20:10645656..10645657 [GRCh38]
Chr20:10626304..10626305 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.82-85C>T single nucleotide variant not provided [RCV001617857] Chr20:10673091 [GRCh38]
Chr20:10653739 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.2459-99T>A single nucleotide variant not provided [RCV001713200] Chr20:10642700 [GRCh38]
Chr20:10623348 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.1886-231T>G single nucleotide variant not provided [RCV001598495] Chr20:10646315 [GRCh38]
Chr20:10626963 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2114-18T>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002073149]|not provided [RCV001674031] Chr20:10645274 [GRCh38]
Chr20:10625922 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.2345-76A>G single nucleotide variant not provided [RCV001654047] Chr20:10644460 [GRCh38]
Chr20:10625108 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.2572+117A>G single nucleotide variant not provided [RCV001619414] Chr20:10642371 [GRCh38]
Chr20:10623019 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.2917-32dup duplication not provided [RCV001648276] Chr20:10641275..10641276 [GRCh38]
Chr20:10621923..10621924 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.1885+252C>T single nucleotide variant not provided [RCV001671489] Chr20:10646687 [GRCh38]
Chr20:10627335 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.2372+15C>T single nucleotide variant not provided [RCV001671912] Chr20:10644342 [GRCh38]
Chr20:10624990 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.2458+28C>T single nucleotide variant not specified [RCV001723322] Chr20:10643750 [GRCh38]
Chr20:10624398 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.2916+18dup duplication not provided [RCV001666984] Chr20:10641432..10641433 [GRCh38]
Chr20:10622080..10622081 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.2372+43TG[20] microsatellite not provided [RCV001667014] Chr20:10644276..10644277 [GRCh38]
Chr20:10624924..10624925 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.1885+272G>A single nucleotide variant not provided [RCV001556752] Chr20:10646667 [GRCh38]
Chr20:10627315 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1120+252A>G single nucleotide variant not provided [RCV001556954] Chr20:10651329 [GRCh38]
Chr20:10631977 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2372+43TG[17] microsatellite not provided [RCV001669135] Chr20:10644277..10644280 [GRCh38]
Chr20:10624925..10624928 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.3048+20A>G single nucleotide variant not provided [RCV001710372] Chr20:10641093 [GRCh38]
Chr20:10621741 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.2000-120C>T single nucleotide variant not provided [RCV001620367] Chr20:10645589 [GRCh38]
Chr20:10626237 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.1625A>G (p.Asn542Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001889036] Chr20:10648055 [GRCh38]
Chr20:10628703 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1121-205C>T single nucleotide variant not provided [RCV001587643] Chr20:10650565 [GRCh38]
Chr20:10631213 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2372+80_2372+81insGTGTGA insertion not provided [RCV001639959] Chr20:10644276..10644277 [GRCh38]
Chr20:10624924..10624925 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.2:c.(755+1_756-1)_(1120+1_1121-1)del deletion Alagille syndrome due to a JAG1 point mutation [RCV001644557]   pathogenic
NM_000214.3(JAG1):c.1235-87C>A single nucleotide variant not provided [RCV001670153] Chr20:10649722 [GRCh38]
Chr20:10630370 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.2372+43TG[21] microsatellite not provided [RCV001656782] Chr20:10644276..10644277 [GRCh38]
Chr20:10624924..10624925 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.2458+62C>T single nucleotide variant not provided [RCV001716786] Chr20:10643716 [GRCh38]
Chr20:10624364 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.755+114A>T single nucleotide variant not provided [RCV001683857] Chr20:10656284 [GRCh38]
Chr20:10636932 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.1721-223TG[2] microsatellite not provided [RCV001724917] Chr20:10647321..10647322 [GRCh38]
Chr20:10627969..10627970 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.1224G>A (p.Thr408=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005092629]|Cardiovascular phenotype [RCV003169230]|JAG1-related disorder [RCV004550031] Chr20:10650257 [GRCh38]
Chr20:10630905 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.807G>C (p.Pro269=) single nucleotide variant Cardiovascular phenotype [RCV003363001]|not provided [RCV000910203] Chr20:10652547 [GRCh38]
Chr20:10633195 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1827G>C (p.Ser609=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV000862862]|Cardiovascular phenotype [RCV002409018] Chr20:10646997 [GRCh38]
Chr20:10627645 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2517C>T (p.Ile839=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002064434]|Cardiovascular phenotype [RCV002427094]|Isolated Nonsyndromic Congenital Heart Disease [RCV001141109] Chr20:10642543 [GRCh38]
Chr20:10623191 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.522G>A (p.Thr174=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001441173]|JAG1-related disorder [RCV004549955] Chr20:10658640 [GRCh38]
Chr20:10639288 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.289G>C (p.Gly97Arg) single nucleotide variant Tetralogy of Fallot [RCV001198447] Chr20:10672799 [GRCh38]
Chr20:10653447 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3506G>A (p.Arg1169Gln) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002484072]|Alagille syndrome due to a JAG1 point mutation [RCV003770226]|Cardiovascular phenotype [RCV003284036]|Scoliosis [RCV001200019] Chr20:10639649 [GRCh38]
Chr20:10620297 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.303C>T (p.Val101=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003117782]|Isolated Nonsyndromic Congenital Heart Disease [RCV001138322] Chr20:10672785 [GRCh38]
Chr20:10653433 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.-6G>T single nucleotide variant Isolated Nonsyndromic Congenital Heart Disease [RCV001138744] Chr20:10673536 [GRCh38]
Chr20:10654184 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1835A>G (p.Lys612Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001209633]|Alagille syndrome due to a JAG1 point mutation [RCV002484135]|Cardiovascular phenotype [RCV002411771]|JAG1-related disorder [RCV004548060] Chr20:10646989 [GRCh38]
Chr20:10627637 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.*1612G>A single nucleotide variant Isolated Nonsyndromic Congenital Heart Disease [RCV001142761] Chr20:10637886 [GRCh38]
Chr20:10618534 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.439+6T>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001063644] Chr20:10663957 [GRCh38]
Chr20:10644605 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2459-89T>G single nucleotide variant not provided [RCV001539567] Chr20:10642690 [GRCh38]
Chr20:10623338 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.2682+7C>G single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001453400] Chr20:10641776 [GRCh38]
Chr20:10622424 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1120+305A>G single nucleotide variant not provided [RCV001569628] Chr20:10651276 [GRCh38]
Chr20:10631924 [GRCh37]
Chr20:20p12.2		 likely benign
NC_000020.11:g.10674180C>T single nucleotide variant not provided [RCV001556867] Chr20:10674180 [GRCh38]
Chr20:10654828 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1570-73C>G single nucleotide variant not provided [RCV001657259] Chr20:10648183 [GRCh38]
Chr20:10628831 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.388-229C>T single nucleotide variant not provided [RCV001558015] Chr20:10664243 [GRCh38]
Chr20:10644891 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3452del (p.Thr1151fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV003234986] Chr20:10639703 [GRCh38]
Chr20:10620351 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2998_3004del (p.Ile1000fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV003108238] Chr20:10641157..10641163 [GRCh38]
Chr20:10621805..10621811 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.1955dup (p.Cys653fs) duplication not provided [RCV001552348] Chr20:10646014..10646015 [GRCh38]
Chr20:10626662..10626663 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3199+218G>A single nucleotide variant not provided [RCV001719547] Chr20:10640565 [GRCh38]
Chr20:10621213 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.2372+43TG[18] microsatellite not provided [RCV001719550] Chr20:10644277..10644278 [GRCh38]
Chr20:10624925..10624926 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.2372+80_2372+81insGTGTGTGA insertion not provided [RCV001719599] Chr20:10644276..10644277 [GRCh38]
Chr20:10624924..10624925 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.439+86T>C single nucleotide variant not provided [RCV001669554] Chr20:10663877 [GRCh38]
Chr20:10644525 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.23G>A (p.Gly8Asp) single nucleotide variant not provided [RCV001560270] Chr20:10673508 [GRCh38]
Chr20:10654156 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2573-49C>T single nucleotide variant not provided [RCV001546476] Chr20:10641941 [GRCh38]
Chr20:10622589 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2372+80GA[3] microsatellite not provided [RCV001555437] Chr20:10644273..10644274 [GRCh38]
Chr20:10624921..10624922 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1569+47C>T single nucleotide variant not provided [RCV001596704] Chr20:10648502 [GRCh38]
Chr20:10629150 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.2572+281C>T single nucleotide variant not provided [RCV001550883] Chr20:10642207 [GRCh38]
Chr20:10622855 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.856A>C (p.Thr286Pro) single nucleotide variant Arteriohepatic dysplasia [RCV005002555] Chr20:10652498 [GRCh38]
Chr20:10633146 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.887A>G (p.Asp296Gly) single nucleotide variant Arteriohepatic dysplasia [RCV005002566] Chr20:10652250 [GRCh38]
Chr20:10632898 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.901G>T (p.Gly301Trp) single nucleotide variant Arteriohepatic dysplasia [RCV005002573] Chr20:10652236 [GRCh38]
Chr20:10632884 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.966T>G (p.Cys322Trp) single nucleotide variant Arteriohepatic dysplasia [RCV005002578] Chr20:10652171 [GRCh38]
Chr20:10632819 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.38C>G (p.Pro13Arg) single nucleotide variant Arteriohepatic dysplasia [RCV005002594] Chr20:10673493 [GRCh38]
Chr20:10654141 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.37C>G (p.Pro13Ala) single nucleotide variant Arteriohepatic dysplasia [RCV005002601] Chr20:10673494 [GRCh38]
Chr20:10654142 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.275G>T (p.Cys92Phe) single nucleotide variant Arteriohepatic dysplasia [RCV005002602] Chr20:10672813 [GRCh38]
Chr20:10653461 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.296C>G (p.Thr99Arg) single nucleotide variant Arteriohepatic dysplasia [RCV005002609] Chr20:10672792 [GRCh38]
Chr20:10653440 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.47T>G (p.Leu16Arg) single nucleotide variant Arteriohepatic dysplasia [RCV005002611] Chr20:10673484 [GRCh38]
Chr20:10654132 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.744A>T (p.Pro248=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005098453]|Cardiovascular phenotype [RCV004631992]|Tetralogy of Fallot [RCV002471661] Chr20:10656409 [GRCh38]
Chr20:10637057 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.2675G>A (p.Cys892Tyr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002467414]|JAG1-related disorder [RCV004548302] Chr20:10641790 [GRCh38]
Chr20:10622438 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1961del (p.Ile654fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV002471967] Chr20:10646009 [GRCh38]
Chr20:10626657 [GRCh37]
Chr20:20p12.2		 pathogenic
GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3 copy number gain not provided [RCV001007068] Chr20:61568..26305479 [GRCh37]
Chr20:20p13-11.1		 pathogenic
NM_000214.3(JAG1):c.493C>G (p.Arg165Gly) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001053368]|Alagille syndrome due to a JAG1 point mutation [RCV005029622] Chr20:10658669 [GRCh38]
Chr20:10639317 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2572+274G>A single nucleotide variant not provided [RCV001595818] Chr20:10642214 [GRCh38]
Chr20:10622862 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.440-22T>G single nucleotide variant not provided [RCV001608444] Chr20:10658744 [GRCh38]
Chr20:10639392 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.2076C>A (p.Asp692Glu) single nucleotide variant Cardiovascular phenotype [RCV004995977]|not provided [RCV001723466] Chr20:10645393 [GRCh38]
Chr20:10626041 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2227+38G>A single nucleotide variant not provided [RCV001677716] Chr20:10645105 [GRCh38]
Chr20:10625753 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.2573-294C>A single nucleotide variant not provided [RCV001673325] Chr20:10642186 [GRCh38]
Chr20:10622834 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.82-161del deletion not provided [RCV001719549] Chr20:10673167 [GRCh38]
Chr20:10653815 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.3199+126T>G single nucleotide variant not provided [RCV001598403] Chr20:10640657 [GRCh38]
Chr20:10621305 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.694+121T>C single nucleotide variant not provided [RCV001710296] Chr20:10658347 [GRCh38]
Chr20:10638995 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.2572+47G>A single nucleotide variant not provided [RCV001598979] Chr20:10642441 [GRCh38]
Chr20:10623089 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.887-58A>G single nucleotide variant not provided [RCV001678499] Chr20:10652308 [GRCh38]
Chr20:10632956 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.387+117G>T single nucleotide variant not provided [RCV001713191] Chr20:10672584 [GRCh38]
Chr20:10653232 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.755+51G>A single nucleotide variant not provided [RCV001713199] Chr20:10656347 [GRCh38]
Chr20:10636995 [GRCh37]
Chr20:20p12.2		 benign
NC_000020.11:g.10674110T>G single nucleotide variant not provided [RCV001636314] Chr20:10674110 [GRCh38]
Chr20:10654758 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.2078G>A (p.Cys693Tyr) single nucleotide variant not provided [RCV001091288] Chr20:10645391 [GRCh38]
Chr20:10626039 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2690dup (p.Cys897fs) duplication Alagille syndrome due to a JAG1 point mutation [RCV001066608] Chr20:10641685..10641686 [GRCh38]
Chr20:10622333..10622334 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2629dup (p.Asp877fs) duplication Alagille syndrome due to a JAG1 point mutation [RCV001216801] Chr20:10641835..10641836 [GRCh38]
Chr20:10622483..10622484 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.331G>A (p.Ala111Thr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002497560]|Isolated Nonsyndromic Congenital Heart Disease [RCV001143067] Chr20:10672757 [GRCh38]
Chr20:10653405 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.74G>A (p.Arg25Gln) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001318229]|Alagille syndrome due to a JAG1 point mutation [RCV005029705]|Isolated Nonsyndromic Congenital Heart Disease [RCV001138324]|not specified [RCV003987786] Chr20:10673457 [GRCh38]
Chr20:10654105 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.558_567del (p.Cys187fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV001054177] Chr20:10658595..10658604 [GRCh38]
Chr20:10639243..10639252 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3200-12C>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002070621]|Isolated Nonsyndromic Congenital Heart Disease [RCV001138110] Chr20:10639967 [GRCh38]
Chr20:10620615 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.755+15C>T single nucleotide variant Isolated Nonsyndromic Congenital Heart Disease [RCV001141226] Chr20:10656383 [GRCh38]
Chr20:10637031 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.-465G>T single nucleotide variant Isolated Nonsyndromic Congenital Heart Disease [RCV001141326] Chr20:10673995 [GRCh38]
Chr20:10654643 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1792G>A (p.Val598Ile) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001060160] Chr20:10647032 [GRCh38]
Chr20:10627680 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.408_409dup (p.Glu137fs) duplication Alagille syndrome due to a JAG1 point mutation [RCV001223061] Chr20:10663992..10663993 [GRCh38]
Chr20:10644640..10644641 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1015G>T (p.Ala339Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001338524]|Cardiovascular phenotype [RCV003163312]|Isolated Nonsyndromic Congenital Heart Disease [RCV001141224] Chr20:10651686 [GRCh38]
Chr20:10632334 [GRCh37]
Chr20:20p12.2		 benign|likely benign|uncertain significance
NM_000214.3(JAG1):c.1601del (p.Cys534fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV001061199] Chr20:10648079 [GRCh38]
Chr20:10628727 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.*1551C>T single nucleotide variant Isolated Nonsyndromic Congenital Heart Disease [RCV001142762]|not provided [RCV002264201] Chr20:10637947 [GRCh38]
Chr20:10618595 [GRCh37]
Chr20:20p12.2		 benign|uncertain significance
NM_000214.3(JAG1):c.*521T>C single nucleotide variant Isolated Nonsyndromic Congenital Heart Disease [RCV001138440] Chr20:10638977 [GRCh38]
Chr20:10619625 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2979C>T (p.Ser993=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001488813]|Cardiovascular phenotype [RCV002436721]|Isolated Nonsyndromic Congenital Heart Disease [RCV001138545]|JAG1-related disorder [RCV004548014] Chr20:10641182 [GRCh38]
Chr20:10621830 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.772C>G (p.Gln258Glu) single nucleotide variant not specified [RCV001001267] Chr20:10652582 [GRCh38]
Chr20:10633230 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1349-59A>C single nucleotide variant not provided [RCV001670854] Chr20:10649166 [GRCh38]
Chr20:10629814 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.694+26C>T single nucleotide variant not provided [RCV001679958] Chr20:10658442 [GRCh38]
Chr20:10639090 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.2087G>A (p.Gly696Glu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001068197]|Cardiovascular phenotype [RCV002418552] Chr20:10645382 [GRCh38]
Chr20:10626030 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.388-149C>T single nucleotide variant not provided [RCV001650252] Chr20:10664163 [GRCh38]
Chr20:10644811 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.2372+77T>A single nucleotide variant not provided [RCV001694058] Chr20:10644280 [GRCh38]
Chr20:10624928 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.695-231A>C single nucleotide variant not provided [RCV001649164] Chr20:10656689 [GRCh38]
Chr20:10637337 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.1349-117A>C single nucleotide variant not provided [RCV001662976] Chr20:10649224 [GRCh38]
Chr20:10629872 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.1570-136T>A single nucleotide variant not provided [RCV001725072] Chr20:10648246 [GRCh38]
Chr20:10628894 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.1721-21G>A single nucleotide variant not provided [RCV001612408] Chr20:10647124 [GRCh38]
Chr20:10627772 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.1756G>A (p.Asp586Asn) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001064500]|Cardiovascular phenotype [RCV002411585] Chr20:10647068 [GRCh38]
Chr20:10627716 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.82-175dup duplication not provided [RCV001666266] Chr20:10673166..10673167 [GRCh38]
Chr20:10653814..10653815 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.1232T>A (p.Leu411Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001057664] Chr20:10650249 [GRCh38]
Chr20:10630897 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1006+157A>T single nucleotide variant not provided [RCV001586998] Chr20:10651974 [GRCh38]
Chr20:10632622 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2767G>A (p.Asp923Asn) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001066148]|Cardiovascular phenotype [RCV003160544] Chr20:10641609 [GRCh38]
Chr20:10622257 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.1762C>T (p.Pro588Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001228126] Chr20:10647062 [GRCh38]
Chr20:10627710 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.73_74del (p.Arg25fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV002554668]|Retinal dystrophy [RCV001073553] Chr20:10673457..10673458 [GRCh38]
Chr20:10654105..10654106 [GRCh37]
Chr20:20p12.2		 pathogenic|likely pathogenic
NM_000214.3(JAG1):c.1025_1026del (p.Leu341_Ser342insTer) microsatellite Alagille syndrome due to a JAG1 point mutation [RCV001048193] Chr20:10651675..10651676 [GRCh38]
Chr20:10632323..10632324 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2372+3_2372+6del deletion Alagille syndrome due to a JAG1 point mutation [RCV001040576]|not provided [RCV002264997] Chr20:10644351..10644354 [GRCh38]
Chr20:10624999..10625002 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.*587T>C single nucleotide variant Isolated Nonsyndromic Congenital Heart Disease [RCV001138439] Chr20:10638911 [GRCh38]
Chr20:10619559 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.532del (p.His178fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV001049155] Chr20:10658630 [GRCh38]
Chr20:10639278 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1377G>C (p.Gln459His) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001314656]|Isolated Nonsyndromic Congenital Heart Disease [RCV001138647] Chr20:10649079 [GRCh38]
Chr20:10629727 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.1613C>T (p.Ala538Val) single nucleotide variant Tetralogy of Fallot [RCV001198446] Chr20:10648067 [GRCh38]
Chr20:10628715 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.694+4T>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001241222] Chr20:10658464 [GRCh38]
Chr20:10639112 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1856A>G (p.Lys619Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001242491]|Charcot-Marie-Tooth disease, axonal, Type 2HH [RCV004594255] Chr20:10646968 [GRCh38]
Chr20:10627616 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3256G>A (p.Val1086Met) single nucleotide variant Tetralogy of Fallot [RCV001197238] Chr20:10639899 [GRCh38]
Chr20:10620547 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1084delinsGGCTTTGA (p.Cys362fs) indel Alagille syndrome due to a JAG1 point mutation [RCV001243494] Chr20:10651617 [GRCh38]
Chr20:10632265 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.554T>A (p.Val185Glu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001044161]|Arteriohepatic dysplasia [RCV005002159] Chr20:10658608 [GRCh38]
Chr20:10639256 [GRCh37]
Chr20:20p12.2		 uncertain significance|not provided
NM_000214.3(JAG1):c.3385C>A (p.His1129Asn) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001201469]|Alagille syndrome due to a JAG1 point mutation [RCV005029713]|Isolated Nonsyndromic Congenital Heart Disease [RCV001142857] Chr20:10639770 [GRCh38]
Chr20:10620418 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.2910G>A (p.Met970Ile) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001246848] Chr20:10641466 [GRCh38]
Chr20:10622114 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1121_1122insTCCT (p.Ile375fs) insertion Alagille syndrome due to a JAG1 point mutation [RCV001245553] Chr20:10650359..10650360 [GRCh38]
Chr20:10631007..10631008 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.*881C>T single nucleotide variant Isolated Nonsyndromic Congenital Heart Disease [RCV001138023] Chr20:10638617 [GRCh38]
Chr20:10619265 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2000-14C>G single nucleotide variant Isolated Nonsyndromic Congenital Heart Disease [RCV001138223] Chr20:10645483 [GRCh38]
Chr20:10626131 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2078_2079del (p.Asp692_Cys693insTer) deletion Alagille syndrome due to a JAG1 point mutation [RCV001045941] Chr20:10645390..10645391 [GRCh38]
Chr20:10626038..10626039 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3065G>A (p.Arg1022Gln) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001203477]|Alagille syndrome due to a JAG1 point mutation [RCV002484096]|not provided [RCV004768910] Chr20:10640917 [GRCh38]
Chr20:10621565 [GRCh37]
Chr20:20p12.2		 benign|uncertain significance
NM_000214.3(JAG1):c.1102G>A (p.Gly368Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001231397] Chr20:10651599 [GRCh38]
Chr20:10632247 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1205C>G (p.Pro402Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001217867]|Alagille syndrome due to a JAG1 point mutation [RCV002491678] Chr20:10650276 [GRCh38]
Chr20:10630924 [GRCh37]
Chr20:20p12.2		 benign|uncertain significance
NM_000214.3(JAG1):c.2928G>A (p.Thr976=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001223067] Chr20:10641233 [GRCh38]
Chr20:10621881 [GRCh37]
Chr20:20p12.2		 benign|uncertain significance
NM_000214.3(JAG1):c.388-2A>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001238101] Chr20:10664016 [GRCh38]
Chr20:10644664 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2527C>T (p.Arg843Trp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002032346]|Cardiovascular phenotype [RCV002451338]|Isolated Nonsyndromic Congenital Heart Disease [RCV001141108] Chr20:10642533 [GRCh38]
Chr20:10623181 [GRCh37]
Chr20:20p12.2		 benign|likely benign|uncertain significance
NM_000214.3(JAG1):c.2360G>A (p.Ser787Asn) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001309107]|Cardiovascular phenotype [RCV004994263]|Isolated Nonsyndromic Congenital Heart Disease [RCV001141111] Chr20:10644369 [GRCh38]
Chr20:10625017 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.2615A>G (p.Asp872Gly) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001246770]|Alagille syndrome due to a JAG1 point mutation [RCV002480844] Chr20:10641850 [GRCh38]
Chr20:10622498 [GRCh37]
Chr20:20p12.2		 benign|uncertain significance
NM_000214.3(JAG1):c.1013A>G (p.His338Arg) single nucleotide variant Isolated Nonsyndromic Congenital Heart Disease [RCV001141225] Chr20:10651688 [GRCh38]
Chr20:10632336 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3196_3200del (p.Thr1066fs) microsatellite Alagille syndrome due to a JAG1 point mutation [RCV001217723] Chr20:10640783..10640787 [GRCh38]
Chr20:10621431..10621435 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.67G>T (p.Ala23Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001063514] Chr20:10673464 [GRCh38]
Chr20:10654112 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2287G>A (p.Gly763Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001226966]|Cardiovascular phenotype [RCV002447141] Chr20:10644920 [GRCh38]
Chr20:10625568 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.116T>A (p.Ile39Asn) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001215387]|Arteriohepatic dysplasia [RCV005002162] Chr20:10672972 [GRCh38]
Chr20:10653620 [GRCh37]
Chr20:20p12.2		 uncertain significance|not provided
NM_000214.3(JAG1):c.*1668A>C single nucleotide variant Isolated Nonsyndromic Congenital Heart Disease [RCV001142760] Chr20:10637830 [GRCh38]
Chr20:10618478 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2990C>G (p.Ser997Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001230121] Chr20:10641171 [GRCh38]
Chr20:10621819 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.*18C>T single nucleotide variant Isolated Nonsyndromic Congenital Heart Disease [RCV001141012] Chr20:10639480 [GRCh38]
Chr20:10620128 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.-185G>C single nucleotide variant Isolated Nonsyndromic Congenital Heart Disease [RCV001141324] Chr20:10673715 [GRCh38]
Chr20:10654363 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2579G>A (p.Gly860Glu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001253045] Chr20:10641886 [GRCh38]
Chr20:10622534 [GRCh37]
Chr20:20p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000214.3(JAG1):c.2278del (p.Val760fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV001251042] Chr20:10644929 [GRCh38]
Chr20:10625577 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.912del (p.Gln304fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV002280320] Chr20:10652225 [GRCh38]
Chr20:10632873 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.771G>A (p.Trp257Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003619761]|not provided [RCV002280566] Chr20:10652583 [GRCh38]
Chr20:10633231 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2650C>T (p.Gln884Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001807916] Chr20:10641815 [GRCh38]
Chr20:10622463 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3157G>A (p.Ala1053Thr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001312889] Chr20:10640825 [GRCh38]
Chr20:10621473 [GRCh37]
Chr20:20p12.2		 uncertain significance
GRCh37/hg19 20p13-12.2(chr20:3178539-11848383) copy number loss 20p12.3 microdeletion syndrome [RCV002280726] Chr20:3178539..11848383 [GRCh37]
Chr20:20p13-12.2		 pathogenic
NM_000214.3(JAG1):c.2413C>T (p.Arg805Trp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002499516]|Alagille syndrome due to a JAG1 point mutation [RCV003619743]|not provided [RCV002224046]|not specified [RCV001290612] Chr20:10643823 [GRCh38]
Chr20:10624471 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.699_700del (p.Ile233fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV002285219] Chr20:10656453..10656454 [GRCh38]
Chr20:10637101..10637102 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.2129dup (p.Asp710fs) duplication Inborn genetic diseases [RCV001266769] Chr20:10645240..10645241 [GRCh38]
Chr20:10625888..10625889 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2141G>A (p.Cys714Tyr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001294293] Chr20:10645229 [GRCh38]
Chr20:10625877 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2170G>A (p.Gly724Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001329702]|JAG1-related disorder [RCV005225375] Chr20:10645200 [GRCh38]
Chr20:10625848 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1570C>T (p.Leu524=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001300521]|Cardiovascular phenotype [RCV004036168] Chr20:10648110 [GRCh38]
Chr20:10628758 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.2323del (p.Glu775fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV001289549] Chr20:10644884 [GRCh38]
Chr20:10625532 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2911T>C (p.Ser971Pro) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001301911]|Alagille syndrome due to a JAG1 point mutation [RCV002486162]|JAG1-related disorder [RCV004740660] Chr20:10641465 [GRCh38]
Chr20:10622113 [GRCh37]
Chr20:20p12.2		 benign|uncertain significance
NM_000214.3(JAG1):c.2914C>G (p.Pro972Ala) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001281184] Chr20:10641462 [GRCh38]
Chr20:10622110 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.2752A>G (p.Ile918Val) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001308696]|Cardiovascular phenotype [RCV003294247] Chr20:10641624 [GRCh38]
Chr20:10622272 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.716G>A (p.Ser239Asn) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001314718]|Arteriohepatic dysplasia [RCV005002164] Chr20:10656437 [GRCh38]
Chr20:10637085 [GRCh37]
Chr20:20p12.2		 uncertain significance|not provided
NM_000214.3(JAG1):c.2372+1G>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001329703] Chr20:10644356 [GRCh38]
Chr20:10625004 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1308_1325del (p.Cys436_Gly441del) deletion Alagille syndrome due to a JAG1 point mutation [RCV001342834] Chr20:10649545..10649562 [GRCh38]
Chr20:10630193..10630210 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.568T>G (p.Tyr190Asp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001325760] Chr20:10658594 [GRCh38]
Chr20:10639242 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1465G>A (p.Asp489Asn) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001317558]|Alagille syndrome due to a JAG1 point mutation [RCV002476481]|Cardiovascular phenotype [RCV002395679] Chr20:10648653 [GRCh38]
Chr20:10629301 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.1706C>T (p.Thr569Met) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001300968]|Cardiovascular phenotype [RCV004036186] Chr20:10647974 [GRCh38]
Chr20:10628622 [GRCh37]
Chr20:20p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000214.3(JAG1):c.323A>T (p.Asn108Ile) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001880192]|Alagille syndrome due to a JAG1 point mutation [RCV002486020]|Congenital anomaly of kidney and urinary tract [RCV001328305] Chr20:10672765 [GRCh38]
Chr20:10653413 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.86G>C (p.Cys29Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001343536]|Alagille syndrome due to a JAG1 point mutation [RCV002486395] Chr20:10673002 [GRCh38]
Chr20:10653650 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2333T>C (p.Ile778Thr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001297586]|Cardiovascular phenotype [RCV004994386] Chr20:10644874 [GRCh38]
Chr20:10625522 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.2828C>T (p.Pro943Leu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001309210]|Alagille syndrome due to a JAG1 point mutation [RCV002476429]|Cardiovascular phenotype [RCV002437057]|JAG1-related disorder [RCV004740663] Chr20:10641548 [GRCh38]
Chr20:10622196 [GRCh37]
Chr20:20p12.2		 benign|uncertain significance
NM_000214.3(JAG1):c.3257dup (p.Thr1087fs) duplication Alagille syndrome due to a JAG1 point mutation [RCV001313130] Chr20:10639897..10639898 [GRCh38]
Chr20:10620545..10620546 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.994A>G (p.Asn332Asp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001300748]|not provided [RCV001529496] Chr20:10652143 [GRCh38]
Chr20:10632791 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.243G>C (p.Glu81Asp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001351978] Chr20:10672845 [GRCh38]
Chr20:10653493 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.694+242C>A single nucleotide variant not provided [RCV001537058] Chr20:10658226 [GRCh38]
Chr20:10638874 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1395+9del deletion Alagille syndrome due to a JAG1 point mutation [RCV001422758] Chr20:10649052 [GRCh38]
Chr20:10629700 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2715C>T (p.His905=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001422254]|Alagille syndrome due to a JAG1 point mutation [RCV005038219] Chr20:10641661 [GRCh38]
Chr20:10622309 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.390G>A (p.Arg130=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001414515]|Arteriohepatic dysplasia [RCV005002166]|Cardiovascular phenotype [RCV004038116]|JAG1-related disorder [RCV004550134] Chr20:10664012 [GRCh38]
Chr20:10644660 [GRCh37]
Chr20:20p12.2		 likely benign|not provided
NM_000214.3(JAG1):c.1036C>T (p.His346Tyr) single nucleotide variant Tetralogy of Fallot [RCV001329699] Chr20:10651665 [GRCh38]
Chr20:10632313 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3398C>T (p.Thr1133Met) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001372709]|Alagille syndrome due to a JAG1 point mutation [RCV002493898]|JAG1-related disorder [RCV004550092] Chr20:10639757 [GRCh38]
Chr20:10620405 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.588C>A (p.Cys196Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001281362] Chr20:10658574 [GRCh38]
Chr20:10639222 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.1485del (p.Cys496fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV001375478] Chr20:10648633 [GRCh38]
Chr20:10629281 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3309A>G (p.Thr1103=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001391863] Chr20:10639846 [GRCh38]
Chr20:10620494 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2157C>A (p.Thr719=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001422688] Chr20:10645213 [GRCh38]
Chr20:10625861 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2628_2635del (p.Trp876_Asp879delinsTer) deletion Alagille syndrome due to a JAG1 point mutation [RCV001376239] Chr20:10641830..10641837 [GRCh38]
Chr20:10622478..10622485 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.1779T>A (p.Tyr593Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001383128] Chr20:10647045 [GRCh38]
Chr20:10627693 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2701C>A (p.Pro901Thr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001369546]|Alagille syndrome due to a JAG1 point mutation [RCV002493884]|Cardiovascular phenotype [RCV003169894] Chr20:10641675 [GRCh38]
Chr20:10622323 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.734dup (p.Cys245fs) duplication Alagille syndrome due to a JAG1 point mutation [RCV001382741] Chr20:10656418..10656419 [GRCh38]
Chr20:10637066..10637067 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3237G>C (p.Val1079=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001396137]|Alagille syndrome due to a JAG1 point mutation [RCV002493944] Chr20:10639918 [GRCh38]
Chr20:10620566 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2237G>A (p.Ser746Asn) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001371503] Chr20:10644970 [GRCh38]
Chr20:10625618 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3049-2A>G single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001383277] Chr20:10640935 [GRCh38]
Chr20:10621583 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3478G>C (p.Asp1160His) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001313343] Chr20:10639677 [GRCh38]
Chr20:10620325 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3329A>G (p.Asn1110Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001351919]|Alagille syndrome due to a JAG1 point mutation [RCV002486458]|Cardiovascular phenotype [RCV002322306]|Retinal dystrophy [RCV004815441] Chr20:10639826 [GRCh38]
Chr20:10620474 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.3001_3002dup (p.Cys1002fs) duplication Tetralogy of Fallot [RCV001335178] Chr20:10641158..10641159 [GRCh38]
Chr20:10621806..10621807 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.265G>C (p.Gly89Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001346453] Chr20:10672823 [GRCh38]
Chr20:10653471 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.1475C>T (p.Ala492Val) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001364173]|Cardiovascular phenotype [RCV002395817]|JAG1-related disorder [RCV004550087] Chr20:10648643 [GRCh38]
Chr20:10629291 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.2234A>C (p.Asn745Thr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001364203]|Cardiovascular phenotype [RCV003365368] Chr20:10644973 [GRCh38]
Chr20:10625621 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1724T>C (p.Ile575Thr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001329701] Chr20:10647100 [GRCh38]
Chr20:10627748 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2740G>A (p.Gly914Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001343611] Chr20:10641636 [GRCh38]
Chr20:10622284 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.575A>G (p.Tyr192Cys) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001323921] Chr20:10658587 [GRCh38]
Chr20:10639235 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2042C>T (p.Thr681Met) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001362843]|Cardiovascular phenotype [RCV002420794] Chr20:10645427 [GRCh38]
Chr20:10626075 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.3562G>A (p.Gly1188Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001359315]|Alagille syndrome due to a JAG1 point mutation [RCV002486499]|Cardiovascular phenotype [RCV004034526] Chr20:10639593 [GRCh38]
Chr20:10620241 [GRCh37]
Chr20:20p12.2		 benign|likely benign|uncertain significance
NM_000214.3(JAG1):c.322A>C (p.Asn108His) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001320371]|Alagille syndrome due to a JAG1 point mutation [RCV002499620]|not provided [RCV004809562] Chr20:10672766 [GRCh38]
Chr20:10653414 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3287_3295del (p.Arg1096_Lys1098del) deletion Alagille syndrome due to a JAG1 point mutation [RCV001320482]|Alagille syndrome due to a JAG1 point mutation [RCV002486275] Chr20:10639860..10639868 [GRCh38]
Chr20:10620508..10620516 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2342A>G (p.Gln781Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001341111]|Cardiovascular phenotype [RCV004995691] Chr20:10644865 [GRCh38]
Chr20:10625513 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3325G>T (p.Asp1109Tyr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001320660] Chr20:10639830 [GRCh38]
Chr20:10620478 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2762T>C (p.Leu921Pro) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001322191] Chr20:10641614 [GRCh38]
Chr20:10622262 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.3563G>C (p.Gly1188Ala) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001369312] Chr20:10639592 [GRCh38]
Chr20:10620240 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2557G>T (p.Ala853Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001306967] Chr20:10642503 [GRCh38]
Chr20:10623151 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.349C>G (p.Arg117Gly) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001341202]|Alagille syndrome due to a JAG1 point mutation [RCV002499675]|not provided [RCV004720863] Chr20:10672739 [GRCh38]
Chr20:10653387 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.3311A>T (p.His1104Leu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001374213]|Cardiovascular phenotype [RCV004995723] Chr20:10639844 [GRCh38]
Chr20:10620492 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3338A>C (p.Asn1113Thr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001325806]|JAG1-related disorder [RCV004548169] Chr20:10639817 [GRCh38]
Chr20:10620465 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1444G>A (p.Asp482Asn) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001347805]|Alagille syndrome due to a JAG1 point mutation [RCV005023070]|Cardiovascular phenotype [RCV003294367]|not provided [RCV002469378] Chr20:10648674 [GRCh38]
Chr20:10629322 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.2723A>G (p.His908Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001304645]|Cardiovascular phenotype [RCV004036318] Chr20:10641653 [GRCh38]
Chr20:10622301 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3530C>T (p.Thr1177Met) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001317418]|Cardiovascular phenotype [RCV004034424]|not provided [RCV001776192] Chr20:10639625 [GRCh38]
Chr20:10620273 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1322G>A (p.Gly441Asp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001324661] Chr20:10649548 [GRCh38]
Chr20:10630196 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.820G>T (p.Gly274Cys) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001366192]|Arteriohepatic dysplasia [RCV005002165] Chr20:10652534 [GRCh38]
Chr20:10633182 [GRCh37]
Chr20:20p12.2		 uncertain significance|not provided
NM_000214.3(JAG1):c.3293A>G (p.Lys1098Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001294665] Chr20:10639862 [GRCh38]
Chr20:10620510 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1204C>G (p.Pro402Ala) single nucleotide variant Deafness, congenital heart defects, and posterior embryotoxon [RCV001329700] Chr20:10650277 [GRCh38]
Chr20:10630925 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1064C>T (p.Ser355Phe) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001366709]|Alagille syndrome due to a JAG1 point mutation [RCV005023097]|Cardiovascular phenotype [RCV004629611] Chr20:10651637 [GRCh38]
Chr20:10632285 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.389G>A (p.Arg130Lys) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001305963]|Arteriohepatic dysplasia [RCV005002163] Chr20:10664013 [GRCh38]
Chr20:10644661 [GRCh37]
Chr20:20p12.2		 uncertain significance|not provided
NM_000214.3(JAG1):c.3557C>G (p.Pro1186Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001367039] Chr20:10639598 [GRCh38]
Chr20:10620246 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.2550C>T (p.His850=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001421936]|Cardiovascular phenotype [RCV003298713]|JAG1-related disorder [RCV004550144] Chr20:10642510 [GRCh38]
Chr20:10623158 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2791A>C (p.Thr931Pro) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001298053] Chr20:10641585 [GRCh38]
Chr20:10622233 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2552G>A (p.Ser851Asn) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001367359]|Cardiovascular phenotype [RCV004037005] Chr20:10642508 [GRCh38]
Chr20:10623156 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.3062T>C (p.Ile1021Thr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001367424]|JAG1-related disorder [RCV004740675] Chr20:10640920 [GRCh38]
Chr20:10621568 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.978G>A (p.Glu326=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001351249]|Alagille syndrome due to a JAG1 point mutation [RCV002499704]|Cardiovascular phenotype [RCV004629597] Chr20:10652159 [GRCh38]
Chr20:10632807 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.493C>T (p.Arg165Trp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001494204]|Alagille syndrome due to a JAG1 point mutation [RCV002501695] Chr20:10658669 [GRCh38]
Chr20:10639317 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.524G>T (p.Gly175Val) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001365862]|Cardiovascular phenotype [RCV002341777] Chr20:10658638 [GRCh38]
Chr20:10639286 [GRCh37]
Chr20:20p12.2		 uncertain significance
NC_000020.10:g.(?_10579323)_(11009878_?)dup duplication Alagille syndrome due to a JAG1 point mutation [RCV001338056] Chr20:10579323..11009878 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1608C>T (p.Asn536=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001467940]|Alagille syndrome due to a JAG1 point mutation [RCV002501619]|Cardiovascular phenotype [RCV002405097]|JAG1-related disorder [RCV004550215]|not provided [RCV001729917]|not specified [RCV001729918] Chr20:10648072 [GRCh38]
Chr20:10628720 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.1383C>T (p.Asp461=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001427725]|Alagille syndrome due to a JAG1 point mutation [RCV002495588]|Cardiovascular phenotype [RCV004616728]|JAG1-related disorder [RCV004550150]|not provided [RCV001796489] Chr20:10649073 [GRCh38]
Chr20:10629721 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2459-13C>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001522617] Chr20:10642614 [GRCh38]
Chr20:10623262 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.1224G>T (p.Thr408=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001492484] Chr20:10650257 [GRCh38]
Chr20:10630905 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2247G>T (p.Leu749=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001425265] Chr20:10644960 [GRCh38]
Chr20:10625608 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2707C>T (p.Leu903=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001454209] Chr20:10641669 [GRCh38]
Chr20:10622317 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.723G>A (p.Lys241=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001461541] Chr20:10656430 [GRCh38]
Chr20:10637078 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.360C>T (p.Ile120=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001496313]|Cardiovascular phenotype [RCV004037364] Chr20:10672728 [GRCh38]
Chr20:10653376 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3081G>A (p.Pro1027=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001465254]|Cardiovascular phenotype [RCV002319718] Chr20:10640901 [GRCh38]
Chr20:10621549 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1434C>T (p.Gly478=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001488710] Chr20:10648684 [GRCh38]
Chr20:10629332 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2573-15G>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001474065]|Alagille syndrome due to a JAG1 point mutation [RCV002506549] Chr20:10641907 [GRCh38]
Chr20:10622555 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.681C>T (p.Pro227=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001500471]|Cardiovascular phenotype [RCV002368523] Chr20:10658481 [GRCh38]
Chr20:10639129 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.264C>T (p.Ala88=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001471869] Chr20:10672824 [GRCh38]
Chr20:10653472 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1396-9C>G single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001460343] Chr20:10648731 [GRCh38]
Chr20:10629379 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3141G>A (p.Ser1047=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001518060]|Alagille syndrome due to a JAG1 point mutation [RCV002501802]|Cardiovascular phenotype [RCV002324121]|JAG1-related disorder [RCV004550290] Chr20:10640841 [GRCh38]
Chr20:10621489 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.2458+10G>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001466885] Chr20:10643768 [GRCh38]
Chr20:10624416 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2497G>A (p.Ala833Thr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001487548]|Alagille syndrome due to a JAG1 point mutation [RCV002495730]|Cardiovascular phenotype [RCV002432367] Chr20:10642563 [GRCh38]
Chr20:10623211 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.1349-8dup duplication Alagille syndrome due to a JAG1 point mutation [RCV001513535]|JAG1-related disorder [RCV004550284]|not specified [RCV003151335] Chr20:10649109..10649110 [GRCh38]
Chr20:10629757..10629758 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.636T>C (p.Cys212=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001470901] Chr20:10658526 [GRCh38]
Chr20:10639174 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1536G>A (p.Leu512=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001398945]|Cardiovascular phenotype [RCV003169984]|JAG1-related disorder [RCV004550113]|not provided [RCV004704524] Chr20:10648582 [GRCh38]
Chr20:10629230 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2565C>T (p.Cys855=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001432592] Chr20:10642495 [GRCh38]
Chr20:10623143 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2124G>A (p.Gln708=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001399054] Chr20:10645246 [GRCh38]
Chr20:10625894 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1710C>T (p.Thr570=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001437268]|Cardiovascular phenotype [RCV002405027] Chr20:10647970 [GRCh38]
Chr20:10628618 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2931G>A (p.Glu977=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001409913] Chr20:10641230 [GRCh38]
Chr20:10621878 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2358C>T (p.Cys786=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001449186] Chr20:10644371 [GRCh38]
Chr20:10625019 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.993C>T (p.Pro331=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001407617]|Alagille syndrome due to a JAG1 point mutation [RCV002493963]|Cardiovascular phenotype [RCV004995768] Chr20:10652144 [GRCh38]
Chr20:10632792 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3203del (p.Phe1068fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV001381404] Chr20:10639952 [GRCh38]
Chr20:10620600 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3200-9G>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001403547] Chr20:10639964 [GRCh38]
Chr20:10620612 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.682G>T (p.Glu228Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001388474] Chr20:10658480 [GRCh38]
Chr20:10639128 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1728C>T (p.Asp576=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001447039] Chr20:10647096 [GRCh38]
Chr20:10627744 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1720+1G>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001376996] Chr20:10647959 [GRCh38]
Chr20:10628607 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.3084C>A (p.Ile1028=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001429287] Chr20:10640898 [GRCh38]
Chr20:10621546 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2163T>C (p.Tyr721=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001408052] Chr20:10645207 [GRCh38]
Chr20:10625855 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2732G>A (p.Cys911Tyr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001376921] Chr20:10641644 [GRCh38]
Chr20:10622292 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NC_000020.11:g.10641783dup duplication Alagille syndrome due to a JAG1 point mutation [RCV001384082] Chr20:10641781..10641782 [GRCh38]
Chr20:10622429..10622430 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.273del (p.Cys92fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV001381574] Chr20:10672815 [GRCh38]
Chr20:10653463 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2458+124G>T single nucleotide variant not provided [RCV001534741] Chr20:10643654 [GRCh38]
Chr20:10624302 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.1395+17T>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001436815] Chr20:10649044 [GRCh38]
Chr20:10629692 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.153C>T (p.Asn51=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001428488]|Cardiovascular phenotype [RCV003298729] Chr20:10672935 [GRCh38]
Chr20:10653583 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2318del (p.Gly773fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV001389094] Chr20:10644889 [GRCh38]
Chr20:10625537 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1308C>A (p.Cys436Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001387935] Chr20:10649562 [GRCh38]
Chr20:10630210 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2917-8C>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001448250] Chr20:10641252 [GRCh38]
Chr20:10621900 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2334C>T (p.Ile778=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001502053] Chr20:10644873 [GRCh38]
Chr20:10625521 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1396-82C>T single nucleotide variant not provided [RCV001619385] Chr20:10648804 [GRCh38]
Chr20:10629452 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.120G>C (p.Leu40=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001461885]|Alagille syndrome due to a JAG1 point mutation [RCV002501610]|Arteriohepatic dysplasia [RCV005002167] Chr20:10672968 [GRCh38]
Chr20:10653616 [GRCh37]
Chr20:20p12.2		 likely benign|not provided
NM_000214.3(JAG1):c.1707G>A (p.Thr569=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002073174]|Alagille syndrome due to a JAG1 point mutation [RCV002502019]|Cardiovascular phenotype [RCV003163789]|JAG1-related disorder [RCV004551971]|not provided [RCV001675530] Chr20:10647973 [GRCh38]
Chr20:10628621 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.2250C>T (p.Pro750=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001473829]|Alagille syndrome due to a JAG1 point mutation [RCV002506548]|JAG1-related disorder [RCV004550229] Chr20:10644957 [GRCh38]
Chr20:10625605 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1396-27TC[6] microsatellite Alagille syndrome due to a JAG1 point mutation [RCV001510131]|Alagille syndrome due to a JAG1 point mutation [RCV002495784]|not provided [RCV001712916] Chr20:10648739..10648740 [GRCh38]
Chr20:10629387..10629388 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.525C>T (p.Gly175=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001462048] Chr20:10658637 [GRCh38]
Chr20:10639285 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1885+41C>T single nucleotide variant not provided [RCV001609282] Chr20:10646898 [GRCh38]
Chr20:10627546 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.755+287T>C single nucleotide variant not provided [RCV001669889] Chr20:10656111 [GRCh38]
Chr20:10636759 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.3199+258G>T single nucleotide variant not provided [RCV001617262] Chr20:10640525 [GRCh38]
Chr20:10621173 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.1396-155A>G single nucleotide variant not provided [RCV001686553] Chr20:10648877 [GRCh38]
Chr20:10629525 [GRCh37]
Chr20:20p12.2		 benign
NC_000020.11:g.10674216C>T single nucleotide variant not provided [RCV001618856] Chr20:10674216 [GRCh38]
Chr20:10654864 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.2499G>A (p.Ala833=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001501317]|Alagille syndrome due to a JAG1 point mutation [RCV002501724]|Cardiovascular phenotype [RCV002424929] Chr20:10642561 [GRCh38]
Chr20:10623209 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2829G>A (p.Pro943=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001485231]|Cardiovascular phenotype [RCV003160958] Chr20:10641547 [GRCh38]
Chr20:10622195 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.887-4G>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001489851] Chr20:10652254 [GRCh38]
Chr20:10632902 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3159A>G (p.Ala1053=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001473038] Chr20:10640823 [GRCh38]
Chr20:10621471 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2115T>C (p.Arg705=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001495622] Chr20:10645255 [GRCh38]
Chr20:10625903 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.82-20C>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001473204] Chr20:10673026 [GRCh38]
Chr20:10653674 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1720+16C>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001455465]|Alagille syndrome due to a JAG1 point mutation [RCV002501595]|not provided [RCV004704570] Chr20:10647944 [GRCh38]
Chr20:10628592 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2373-7T>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001491236] Chr20:10643870 [GRCh38]
Chr20:10624518 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1396-10C>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001431940] Chr20:10648732 [GRCh38]
Chr20:10629380 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.558C>T (p.Thr186=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001406662]|Cardiovascular phenotype [RCV002350777] Chr20:10658604 [GRCh38]
Chr20:10639252 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.306C>T (p.Ile102=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001404219] Chr20:10672782 [GRCh38]
Chr20:10653430 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.831T>C (p.Asn277=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001406720] Chr20:10652523 [GRCh38]
Chr20:10633171 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2227+17C>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001517445]|Alagille syndrome due to a JAG1 point mutation [RCV002501800]|not provided [RCV001647309]|not specified [RCV001699567] Chr20:10645126 [GRCh38]
Chr20:10625774 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.2917-1G>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001385742] Chr20:10641245 [GRCh38]
Chr20:10621893 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.414G>A (p.Ala138=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001521662]|Alagille syndrome due to a JAG1 point mutation [RCV002501840]|Cardiovascular phenotype [RCV002329652]|not provided [RCV001685409]|not specified [RCV001701190] Chr20:10663988 [GRCh38]
Chr20:10644636 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.2573-10C>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001454583] Chr20:10641902 [GRCh38]
Chr20:10622550 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2673_2682+5del deletion Alagille syndrome due to a JAG1 point mutation [RCV001379090] Chr20:10641778..10641792 [GRCh38]
Chr20:10622426..10622440 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.1829del (p.Gly610fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV001387394] Chr20:10646995 [GRCh38]
Chr20:10627643 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3591A>C (p.Thr1197=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001454840]|Cardiovascular phenotype [RCV003365407] Chr20:10639564 [GRCh38]
Chr20:10620212 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1101dup (p.Gly368fs) duplication Alagille syndrome due to a JAG1 point mutation [RCV001386228] Chr20:10651599..10651600 [GRCh38]
Chr20:10632247..10632248 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.655dup (p.Thr219fs) duplication Alagille syndrome due to a JAG1 point mutation [RCV001386067] Chr20:10658506..10658507 [GRCh38]
Chr20:10639154..10639155 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2538C>T (p.Cys846=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001400903] Chr20:10642522 [GRCh38]
Chr20:10623170 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1720+17G>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001430848]|Alagille syndrome due to a JAG1 point mutation [RCV002501523] Chr20:10647943 [GRCh38]
Chr20:10628591 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1312dup (p.Cys438fs) duplication Alagille syndrome due to a JAG1 point mutation [RCV001384590] Chr20:10649557..10649558 [GRCh38]
Chr20:10630205..10630206 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1396-27TC[4] microsatellite Alagille syndrome due to a JAG1 point mutation [RCV001402758] Chr20:10648740..10648741 [GRCh38]
Chr20:10629388..10629389 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.903dup (p.Thr302fs) duplication Alagille syndrome due to a JAG1 point mutation [RCV002250061] Chr20:10652233..10652234 [GRCh38]
Chr20:10632881..10632882 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3390G>A (p.Gly1130=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003104837] Chr20:10639765 [GRCh38]
Chr20:10620413 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1731C>G (p.Ser577Arg) single nucleotide variant Charcot-Marie-Tooth disease, axonal, Type 2HH [RCV001731244] Chr20:10647093 [GRCh38]
Chr20:10627741 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1948T>C (p.Ser650Pro) single nucleotide variant Charcot-Marie-Tooth disease, axonal, Type 2HH [RCV001731245] Chr20:10646022 [GRCh38]
Chr20:10626670 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.611A>G (p.Asp204Gly) single nucleotide variant not provided [RCV001730204] Chr20:10658551 [GRCh38]
Chr20:10639199 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1823_1826del (p.Gln608fs) microsatellite Alagille syndrome due to a JAG1 point mutation [RCV002273270] Chr20:10646998..10647001 [GRCh38]
Chr20:10627646..10627649 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.1228C>T (p.Gln410Ter) single nucleotide variant not provided [RCV001783496] Chr20:10650253 [GRCh38]
Chr20:10630901 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2114-5_2119delinsACACACCACCTGCACGTG indel Familial thoracic aortic aneurysm and aortic dissection [RCV002251309] Chr20:10645251..10645261 [GRCh38]
Chr20:10625899..10625909 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.1007-2A>G single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001771819] Chr20:10651696 [GRCh38]
Chr20:10632344 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.998G>A (p.Cys333Tyr) single nucleotide variant not provided [RCV001768246] Chr20:10652139 [GRCh38]
Chr20:10632787 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3637C>T (p.Arg1213Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001868737]|Alagille syndrome due to a JAG1 point mutation [RCV002506808]|not provided [RCV001768276] Chr20:10639518 [GRCh38]
Chr20:10620166 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1755C>G (p.Asn585Lys) single nucleotide variant not provided [RCV001753368] Chr20:10647069 [GRCh38]
Chr20:10627717 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.448A>G (p.Ser150Gly) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005023249]|Alagille syndrome due to a JAG1 point mutation [RCV005095087]|Cardiovascular phenotype [RCV002329742]|not provided [RCV001753392] Chr20:10658714 [GRCh38]
Chr20:10639362 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2113C>T (p.Arg705Cys) single nucleotide variant not provided [RCV001776318] Chr20:10645356 [GRCh38]
Chr20:10626004 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3097G>C (p.Asp1033His) single nucleotide variant not provided [RCV001768324] Chr20:10640885 [GRCh38]
Chr20:10621533 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2242T>C (p.Cys748Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001796554] Chr20:10644965 [GRCh38]
Chr20:10625613 [GRCh37]
Chr20:20p12.2		 likely pathogenic|uncertain significance
NM_000214.3(JAG1):c.292_293dup (p.Thr99fs) duplication not provided [RCV001782323] Chr20:10672794..10672795 [GRCh38]
Chr20:10653442..10653443 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.384G>A (p.Trp128Ter) single nucleotide variant not provided [RCV001783495] Chr20:10672704 [GRCh38]
Chr20:10653352 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.713G>A (p.Cys238Tyr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001771809] Chr20:10656440 [GRCh38]
Chr20:10637088 [GRCh37]
Chr20:20p12.2		 likely pathogenic|uncertain significance
NM_000214.3(JAG1):c.2049C>T (p.Arg683=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002541283]|Cardiovascular phenotype [RCV002422852]|not provided [RCV001794987] Chr20:10645420 [GRCh38]
Chr20:10626068 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3048+49C>T single nucleotide variant not provided [RCV001787518] Chr20:10641064 [GRCh38]
Chr20:10621712 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.2113+1G>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003330100]|Alagille syndrome due to a JAG1 point mutation [RCV005038328]|not provided [RCV001799920] Chr20:10645355 [GRCh38]
Chr20:10626003 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.1794C>T (p.Val598=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002542528]|Cardiovascular phenotype [RCV004996020]|not specified [RCV001817381] Chr20:10647030 [GRCh38]
Chr20:10627678 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.1720+172G>T single nucleotide variant not provided [RCV001794704] Chr20:10647788 [GRCh38]
Chr20:10628436 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2114G>A (p.Arg705His) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002541309]|not provided [RCV001797466] Chr20:10645256 [GRCh38]
Chr20:10625904 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2458+40C>T single nucleotide variant not provided [RCV001776927] Chr20:10643738 [GRCh38]
Chr20:10624386 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2939G>C (p.Cys980Ser) single nucleotide variant not provided [RCV001757311] Chr20:10641222 [GRCh38]
Chr20:10621870 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2931del (p.Glu977fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV001808235] Chr20:10641230 [GRCh38]
Chr20:10621878 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.733T>C (p.Cys245Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002040051]|not specified [RCV003331219] Chr20:10656420 [GRCh38]
Chr20:10637068 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1349-9_1349-6del microsatellite Alagille syndrome due to a JAG1 point mutation [RCV002004872]|Alagille syndrome due to a JAG1 point mutation [RCV005031986] Chr20:10649113..10649116 [GRCh38]
Chr20:10629761..10629764 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.98G>T (p.Gly33Val) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001949497]|Arteriohepatic dysplasia [RCV005002170] Chr20:10672990 [GRCh38]
Chr20:10653638 [GRCh37]
Chr20:20p12.2		 pathogenic|not provided
NM_000214.3(JAG1):c.1687del (p.His562_Leu563insTer) deletion Alagille syndrome due to a JAG1 point mutation [RCV001863756] Chr20:10647993 [GRCh38]
Chr20:10628641 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1270G>A (p.Ala424Thr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001864130]|Alagille syndrome due to a JAG1 point mutation [RCV002506897] Chr20:10649600 [GRCh38]
Chr20:10630248 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NC_000020.10:g.(?_7812350)_(10654278_?)dup duplication Alagille syndrome due to a JAG1 point mutation [RCV003120764] Chr20:7812350..10654278 [GRCh37]
Chr20:20p12.3-12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.2312A>C (p.Lys771Thr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002003998]|Alagille syndrome due to a JAG1 point mutation [RCV002486616] Chr20:10644895 [GRCh38]
Chr20:10625543 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3452C>A (p.Thr1151Lys) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001947494]|Cardiovascular phenotype [RCV002458681] Chr20:10639703 [GRCh38]
Chr20:10620351 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.757T>C (p.Cys253Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001893021]|Arteriohepatic dysplasia [RCV005002169] Chr20:10652597 [GRCh38]
Chr20:10633245 [GRCh37]
Chr20:20p12.2		 uncertain significance|not provided
NM_000214.3(JAG1):c.2979_2980delinsTT (p.Ala994Ser) indel Alagille syndrome due to a JAG1 point mutation [RCV002006410] Chr20:10641181..10641182 [GRCh38]
Chr20:10621829..10621830 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1329G>A (p.Met443Ile) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002008937]|Alagille syndrome due to a JAG1 point mutation [RCV002497970] Chr20:10649541 [GRCh38]
Chr20:10630189 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.3460T>C (p.Ser1154Pro) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001893202] Chr20:10639695 [GRCh38]
Chr20:10620343 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2914C>T (p.Pro972Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001963811] Chr20:10641462 [GRCh38]
Chr20:10622110 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1489_1490dup (p.Leu497fs) duplication Alagille syndrome due to a JAG1 point mutation [RCV001947046] Chr20:10648627..10648628 [GRCh38]
Chr20:10629275..10629276 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2758A>T (p.Ile920Phe) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001984616]|Alagille syndrome due to a JAG1 point mutation [RCV002492002] Chr20:10641618 [GRCh38]
Chr20:10622266 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.3391G>T (p.Ala1131Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001872313] Chr20:10639764 [GRCh38]
Chr20:10620412 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1139del (p.Pro380fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV001863650] Chr20:10650342 [GRCh38]
Chr20:10630990 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.343A>G (p.Asn115Asp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001929318] Chr20:10672745 [GRCh38]
Chr20:10653393 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3098A>G (p.Asp1033Gly) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001915145]|Alagille syndrome due to a JAG1 point mutation [RCV005038465] Chr20:10640884 [GRCh38]
Chr20:10621532 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.2881A>G (p.Ile961Val) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001987828] Chr20:10641495 [GRCh38]
Chr20:10622143 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1216G>A (p.Gly406Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001965603]|Cardiovascular phenotype [RCV004044414] Chr20:10650265 [GRCh38]
Chr20:10630913 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2982T>A (p.Ala994=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001874452] Chr20:10641179 [GRCh38]
Chr20:10621827 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.1868dup (p.Thr624fs) duplication Alagille syndrome due to a JAG1 point mutation [RCV001864598] Chr20:10646955..10646956 [GRCh38]
Chr20:10627603..10627604 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3505C>G (p.Arg1169Gly) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001982731]|Alagille syndrome due to a JAG1 point mutation [RCV005025481] Chr20:10639650 [GRCh38]
Chr20:10620298 [GRCh37]
Chr20:20p12.2		 benign|uncertain significance
NM_000214.3(JAG1):c.2123_2124del (p.Gln708fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV001913457] Chr20:10645246..10645247 [GRCh38]
Chr20:10625894..10625895 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.95C>A (p.Ser32Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001908477] Chr20:10672993 [GRCh38]
Chr20:10653641 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1057G>C (p.Glu353Gln) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002005363]|Alagille syndrome due to a JAG1 point mutation [RCV005032047]|Cardiovascular phenotype [RCV003303540] Chr20:10651644 [GRCh38]
Chr20:10632292 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2727C>T (p.Ser909=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001945435]|Cardiovascular phenotype [RCV003167175] Chr20:10641649 [GRCh38]
Chr20:10622297 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.134_154del (p.Val45_Asn51del) deletion Alagille syndrome due to a JAG1 point mutation [RCV001965864]|JAG1-related disorder [RCV004552139] Chr20:10672934..10672954 [GRCh38]
Chr20:10653582..10653602 [GRCh37]
Chr20:20p12.2		 uncertain significance
GRCh37/hg19 20p12.2(chr20:10573642-10778864) copy number loss not specified [RCV002052703] Chr20:10573642..10778864 [GRCh37]
Chr20:20p12.2		 uncertain significance
GRCh37/hg19 20p12.3-12.1(chr20:7352576-12248958) copy number gain not specified [RCV002052698] Chr20:7352576..12248958 [GRCh37]
Chr20:20p12.3-12.1		 uncertain significance
NM_000214.3(JAG1):c.2638T>C (p.Cys880Arg) single nucleotide variant Hepatic Ductular Hypoplasia [RCV001849644] Chr20:10641827 [GRCh38]
Chr20:10622475 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.1653C>A (p.Cys551Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001837375] Chr20:10648027 [GRCh38]
Chr20:10628675 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2258G>T (p.Cys753Phe) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001965876] Chr20:10644949 [GRCh38]
Chr20:10625597 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3290G>A (p.Arg1097Gln) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001928796]|Cardiovascular phenotype [RCV002324343]|Retinal dystrophy [RCV004816769] Chr20:10639865 [GRCh38]
Chr20:10620513 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
GRCh37/hg19 20p12.2(chr20:10522024-10627551) copy number gain not specified [RCV002052702] Chr20:10522024..10627551 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.694+3A>G single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001967122] Chr20:10658465 [GRCh38]
Chr20:10639113 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2307C>T (p.Val769=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001910914]|Alagille syndrome due to a JAG1 point mutation [RCV005023382]|JAG1-related disorder [RCV004741129] Chr20:10644900 [GRCh38]
Chr20:10625548 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.882C>A (p.Asp294Glu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001892295]|Arteriohepatic dysplasia [RCV005002168] Chr20:10652472 [GRCh38]
Chr20:10633120 [GRCh37]
Chr20:20p12.2		 uncertain significance|not provided
NM_000214.3(JAG1):c.1997C>T (p.Thr666Ile) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001891518] Chr20:10645973 [GRCh38]
Chr20:10626621 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.425G>A (p.Ser142Asn) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002043128]|Alagille syndrome due to a JAG1 point mutation [RCV005025642] Chr20:10663977 [GRCh38]
Chr20:10644625 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.3307A>G (p.Thr1103Ala) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001872676]|Cardiovascular phenotype [RCV002458692] Chr20:10639848 [GRCh38]
Chr20:10620496 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.224T>C (p.Phe75Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002052042] Chr20:10672864 [GRCh38]
Chr20:10653512 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2956_2957dup (p.Leu986fs) duplication Hepatic Ductular Hypoplasia [RCV001849645] Chr20:10641203..10641204 [GRCh38]
Chr20:10621851..10621852 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.2120G>A (p.Ser707Asn) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001969202] Chr20:10645250 [GRCh38]
Chr20:10625898 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1885+17C>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002002560] Chr20:10646922 [GRCh38]
Chr20:10627570 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.474G>A (p.Ser158=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001968434]|Cardiovascular phenotype [RCV002331540] Chr20:10658688 [GRCh38]
Chr20:10639336 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.2227+5C>G single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001914122] Chr20:10645138 [GRCh38]
Chr20:10625786 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2831T>A (p.Val944Glu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001909123] Chr20:10641545 [GRCh38]
Chr20:10622193 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.2627G>A (p.Trp876Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001890870] Chr20:10641838 [GRCh38]
Chr20:10622486 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1236T>A (p.Asp412Glu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002041139] Chr20:10649634 [GRCh38]
Chr20:10630282 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2150G>C (p.Gly717Ala) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002004800] Chr20:10645220 [GRCh38]
Chr20:10625868 [GRCh37]
Chr20:20p12.2		 benign|uncertain significance
NM_000214.3(JAG1):c.936T>A (p.Cys312Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001894150] Chr20:10652201 [GRCh38]
Chr20:10632849 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.590A>G (p.Asn197Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001986813]|Arteriohepatic dysplasia [RCV005002172] Chr20:10658572 [GRCh38]
Chr20:10639220 [GRCh37]
Chr20:20p12.2		 uncertain significance|not provided
NM_000214.3(JAG1):c.3006_3024dup (p.Asn1009fs) duplication Alagille syndrome due to a JAG1 point mutation [RCV001912315] Chr20:10641136..10641137 [GRCh38]
Chr20:10621784..10621785 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3100A>T (p.Lys1034Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001893572] Chr20:10640882 [GRCh38]
Chr20:10621530 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1123A>G (p.Ile375Val) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001894761] Chr20:10650358 [GRCh38]
Chr20:10631006 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1878C>A (p.Cys626Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001942649] Chr20:10646946 [GRCh38]
Chr20:10627594 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2687G>T (p.Trp896Leu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001925525]|not provided [RCV004762243] Chr20:10641689 [GRCh38]
Chr20:10622337 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.3039dup (p.Val1014fs) duplication Alagille syndrome due to a JAG1 point mutation [RCV001999745]|not provided [RCV004779223] Chr20:10641121..10641122 [GRCh38]
Chr20:10621769..10621770 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2528G>A (p.Arg843Gln) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002034950]|Cardiovascular phenotype [RCV002458637] Chr20:10642532 [GRCh38]
Chr20:10623180 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.2636A>G (p.Asp879Gly) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001903417] Chr20:10641829 [GRCh38]
Chr20:10622477 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1702C>T (p.Arg568Cys) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002038551]|Alagille syndrome due to a JAG1 point mutation [RCV005025668]|Cardiovascular phenotype [RCV004046973] Chr20:10647978 [GRCh38]
Chr20:10628626 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1582T>G (p.Tyr528Asp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001903578] Chr20:10648098 [GRCh38]
Chr20:10628746 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.368C>T (p.Pro123Leu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001918023] Chr20:10672720 [GRCh38]
Chr20:10653368 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.622G>T (p.Gly208Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002049610]|not provided [RCV002254359] Chr20:10658540 [GRCh38]
Chr20:10639188 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1326G>T (p.Trp442Cys) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002029835] Chr20:10649544 [GRCh38]
Chr20:10630192 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3573A>C (p.Thr1191=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001953365]|not provided [RCV004704666] Chr20:10639582 [GRCh38]
Chr20:10620230 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3083T>G (p.Ile1028Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001907267]|Cardiovascular phenotype [RCV003355575] Chr20:10640899 [GRCh38]
Chr20:10621547 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.820G>A (p.Gly274Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001998152]|Arteriohepatic dysplasia [RCV005002171]|not provided [RCV002305639] Chr20:10652534 [GRCh38]
Chr20:10633182 [GRCh37]
Chr20:20p12.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NC_000020.10:g.(?_10256140)_(10654178_?)dup duplication Bardet-Biedl syndrome [RCV001906308] Chr20:10256140..10654178 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.872A>T (p.Gln291Leu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001905760] Chr20:10652482 [GRCh38]
Chr20:10633130 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2173G>T (p.Asp725Tyr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002035593] Chr20:10645197 [GRCh38]
Chr20:10625845 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2519A>G (p.Asn840Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001915724] Chr20:10642541 [GRCh38]
Chr20:10623189 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2087G>C (p.Gly696Ala) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002012153] Chr20:10645382 [GRCh38]
Chr20:10626030 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2319C>T (p.Gly773=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002000980] Chr20:10644888 [GRCh38]
Chr20:10625536 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1363del (p.Gly456fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV001958736] Chr20:10649093 [GRCh38]
Chr20:10629741 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3417_3418inv (p.Glu1140Lys) inversion Alagille syndrome due to a JAG1 point mutation [RCV001881160] Chr20:10639737..10639738 [GRCh38]
Chr20:10620385..10620386 [GRCh37]
Chr20:20p12.2		 uncertain significance
NC_000020.10:g.(?_9288462)_(10654278_?)del deletion Alagille syndrome due to a JAG1 point mutation [RCV001963127] Chr20:9288462..10654278 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3542G>A (p.Arg1181Lys) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001989225]|Alagille syndrome due to a JAG1 point mutation [RCV002479705]|Cardiovascular phenotype [RCV003170463]|JAG1-related disorder [RCV004553615] Chr20:10639613 [GRCh38]
Chr20:10620261 [GRCh37]
Chr20:20p12.2		 benign|uncertain significance
NM_000214.3(JAG1):c.3320C>T (p.Ser1107Phe) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002038728] Chr20:10639835 [GRCh38]
Chr20:10620483 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3002C>T (p.Ala1001Val) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001888839] Chr20:10641159 [GRCh38]
Chr20:10621807 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1346T>A (p.Ile449Lys) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002026475] Chr20:10649524 [GRCh38]
Chr20:10630172 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1859G>C (p.Gly620Ala) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002001077] Chr20:10646965 [GRCh38]
Chr20:10627613 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3259A>G (p.Thr1087Ala) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001998910] Chr20:10639896 [GRCh38]
Chr20:10620544 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.783C>G (p.Tyr261Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001901512] Chr20:10652571 [GRCh38]
Chr20:10633219 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2458+4A>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001976397] Chr20:10643774 [GRCh38]
Chr20:10624422 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3353_3354delinsCC (p.Gln1118Pro) indel Alagille syndrome due to a JAG1 point mutation [RCV001903172] Chr20:10639801..10639802 [GRCh38]
Chr20:10620449..10620450 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1832G>T (p.Gly611Val) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001989543]|Alagille syndrome due to a JAG1 point mutation [RCV005025611] Chr20:10646992 [GRCh38]
Chr20:10627640 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2506G>A (p.Val836Met) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002015536] Chr20:10642554 [GRCh38]
Chr20:10623202 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1349-19_1349-17del microsatellite Alagille syndrome due to a JAG1 point mutation [RCV001992256]|Alagille syndrome due to a JAG1 point mutation [RCV002498002]|JAG1-related disorder [RCV004553619] Chr20:10649124..10649126 [GRCh38]
Chr20:10629772..10629774 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.35G>A (p.Arg12His) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002032885] Chr20:10673496 [GRCh38]
Chr20:10654144 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3023C>G (p.Ala1008Gly) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001991185] Chr20:10641138 [GRCh38]
Chr20:10621786 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3623C>T (p.Ala1208Val) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001992702]|Cardiovascular phenotype [RCV004996146] Chr20:10639532 [GRCh38]
Chr20:10620180 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2809C>T (p.Arg937Trp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001901873]|Cardiovascular phenotype [RCV002440935] Chr20:10641567 [GRCh38]
Chr20:10622215 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2385C>T (p.Gly795=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001931468] Chr20:10643851 [GRCh38]
Chr20:10624499 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.1066C>A (p.Leu356Met) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001975662] Chr20:10651635 [GRCh38]
Chr20:10632283 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1984G>C (p.Ala662Pro) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002026053] Chr20:10645986 [GRCh38]
Chr20:10626634 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1666G>T (p.Glu556Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001950790] Chr20:10648014 [GRCh38]
Chr20:10628662 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3195A>C (p.Arg1065Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001919764]|not provided [RCV004779177] Chr20:10640787 [GRCh38]
Chr20:10621435 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.261G>A (p.Thr87=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001877889] Chr20:10672827 [GRCh38]
Chr20:10653475 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.3561C>G (p.Asn1187Lys) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001917012] Chr20:10639594 [GRCh38]
Chr20:10620242 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3016C>T (p.Pro1006Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001915810] Chr20:10641145 [GRCh38]
Chr20:10621793 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2863C>T (p.Gln955Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001902789] Chr20:10641513 [GRCh38]
Chr20:10622161 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2458+2T>G single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001994181] Chr20:10643776 [GRCh38]
Chr20:10624424 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.2876C>T (p.Ala959Val) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001877086]|Cardiovascular phenotype [RCV003164203] Chr20:10641500 [GRCh38]
Chr20:10622148 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.297_298delinsCT (p.Pro100Ser) indel Alagille syndrome due to a JAG1 point mutation [RCV001899991] Chr20:10672790..10672791 [GRCh38]
Chr20:10653438..10653439 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2632G>A (p.Asp878Asn) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001903469]|Cardiovascular phenotype [RCV004042644] Chr20:10641833 [GRCh38]
Chr20:10622481 [GRCh37]
Chr20:20p12.2		 benign|uncertain significance
NM_000214.3(JAG1):c.4C>G (p.Arg2Gly) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001937341] Chr20:10673527 [GRCh38]
Chr20:10654175 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.253C>T (p.Arg85Cys) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002046480] Chr20:10672835 [GRCh38]
Chr20:10653483 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.388-16_388-15insCCTA insertion Alagille syndrome due to a JAG1 point mutation [RCV002027977] Chr20:10664029..10664030 [GRCh38]
Chr20:10644677..10644678 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3164dup (p.Arg1056fs) duplication Alagille syndrome due to a JAG1 point mutation [RCV001959029] Chr20:10640817..10640818 [GRCh38]
Chr20:10621465..10621466 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1720+16dup duplication Alagille syndrome due to a JAG1 point mutation [RCV002033624]|Alagille syndrome due to a JAG1 point mutation [RCV002492258] Chr20:10647943..10647944 [GRCh38]
Chr20:10628591..10628592 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3287_3295dup (p.Arg1096_Lys1098dup) duplication Alagille syndrome due to a JAG1 point mutation [RCV001979439] Chr20:10639859..10639860 [GRCh38]
Chr20:10620507..10620508 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.984T>G (p.Tyr328Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001997021] Chr20:10652153 [GRCh38]
Chr20:10632801 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1780A>T (p.Ile594Phe) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001903842] Chr20:10647044 [GRCh38]
Chr20:10627692 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.316A>G (p.Thr106Ala) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001992501]|Alagille syndrome due to a JAG1 point mutation [RCV002479548]|Cardiovascular phenotype [RCV002324391] Chr20:10672772 [GRCh38]
Chr20:10653420 [GRCh37]
Chr20:20p12.2		 benign|uncertain significance
NM_000214.3(JAG1):c.2611_2612delinsTG (p.Pro871Ter) indel Alagille syndrome due to a JAG1 point mutation [RCV001935366] Chr20:10641853..10641854 [GRCh38]
Chr20:10622501..10622502 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3109G>A (p.Asp1037Asn) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002026088]|Alagille syndrome due to a JAG1 point mutation [RCV002486707] Chr20:10640873 [GRCh38]
Chr20:10621521 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.1885+18G>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001905420] Chr20:10646921 [GRCh38]
Chr20:10627569 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.1775G>A (p.Arg592Gln) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002047497]|Cardiovascular phenotype [RCV004996036] Chr20:10647049 [GRCh38]
Chr20:10627697 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.1155C>A (p.His385Gln) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001897341] Chr20:10650326 [GRCh38]
Chr20:10630974 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2382C>A (p.Ser794Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002014976] Chr20:10643854 [GRCh38]
Chr20:10624502 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3638G>T (p.Arg1213Leu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001902567] Chr20:10639517 [GRCh38]
Chr20:10620165 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2201G>A (p.Gly734Asp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001979281] Chr20:10645169 [GRCh38]
Chr20:10625817 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1345A>G (p.Ile449Val) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001907392] Chr20:10649525 [GRCh38]
Chr20:10630173 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.866G>T (p.Gly289Val) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001932222] Chr20:10652488 [GRCh38]
Chr20:10633136 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3544G>A (p.Glu1182Lys) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001923602] Chr20:10639611 [GRCh38]
Chr20:10620259 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2200G>A (p.Gly734Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001883888]|not provided [RCV002224104] Chr20:10645170 [GRCh38]
Chr20:10625818 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.76G>A (p.Ala26Thr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001904663] Chr20:10673455 [GRCh38]
Chr20:10654103 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.418G>A (p.Asp140Asn) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002034984]|Alagille syndrome due to a JAG1 point mutation [RCV002482397] Chr20:10663984 [GRCh38]
Chr20:10644632 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.191_192delinsAG (p.Arg64Gln) indel Alagille syndrome due to a JAG1 point mutation [RCV001885943] Chr20:10672896..10672897 [GRCh38]
Chr20:10653544..10653545 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.704G>A (p.Arg235Gln) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001940494]|Cardiovascular phenotype [RCV004043629] Chr20:10656449 [GRCh38]
Chr20:10637097 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.307G>A (p.Gly103Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002018341] Chr20:10672781 [GRCh38]
Chr20:10653429 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1744A>G (p.Met582Val) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001905980] Chr20:10647080 [GRCh38]
Chr20:10627728 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1306T>C (p.Cys436Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002018119] Chr20:10649564 [GRCh38]
Chr20:10630212 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3017C>T (p.Pro1006Leu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001981850]|Alagille syndrome due to a JAG1 point mutation [RCV002484630]|See cases [RCV004584452] Chr20:10641144 [GRCh38]
Chr20:10621792 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.34C>T (p.Arg12Cys) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001885826]|Cardiovascular phenotype [RCV002458704] Chr20:10673497 [GRCh38]
Chr20:10654145 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1829G>A (p.Gly610Glu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001875098] Chr20:10646995 [GRCh38]
Chr20:10627643 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.3170T>C (p.Val1057Ala) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001978623] Chr20:10640812 [GRCh38]
Chr20:10621460 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2980G>A (p.Ala994Thr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001938935]|Cardiovascular phenotype [RCV004041896] Chr20:10641181 [GRCh38]
Chr20:10621829 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.2064C>G (p.Asp688Glu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001997554] Chr20:10645405 [GRCh38]
Chr20:10626053 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2412C>A (p.Tyr804Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001956444] Chr20:10643824 [GRCh38]
Chr20:10624472 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2797G>A (p.Val933Met) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001902578] Chr20:10641579 [GRCh38]
Chr20:10622227 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3478G>A (p.Asp1160Asn) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001977312]|Alagille syndrome due to a JAG1 point mutation [RCV002497926]|not provided [RCV003481232] Chr20:10639677 [GRCh38]
Chr20:10620325 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.2733C>G (p.Cys911Trp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002010651] Chr20:10641643 [GRCh38]
Chr20:10622291 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.1448_1449del (p.His483fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV001935821] Chr20:10648669..10648670 [GRCh38]
Chr20:10629317..10629318 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3227T>C (p.Val1076Ala) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002014269] Chr20:10639928 [GRCh38]
Chr20:10620576 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.2147A>G (p.Asn716Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001875297] Chr20:10645223 [GRCh38]
Chr20:10625871 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2050G>A (p.Asp684Asn) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001991165]|Alagille syndrome due to a JAG1 point mutation [RCV002497942] Chr20:10645419 [GRCh38]
Chr20:10626067 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.375T>G (p.Ser125Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002011819] Chr20:10672713 [GRCh38]
Chr20:10653361 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3029A>G (p.Asn1010Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001976806] Chr20:10641132 [GRCh38]
Chr20:10621780 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1952A>T (p.Tyr651Phe) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001976750] Chr20:10646018 [GRCh38]
Chr20:10626666 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.1205del (p.Pro402fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV001902823] Chr20:10650276 [GRCh38]
Chr20:10630924 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.756-1G>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002016997] Chr20:10652599 [GRCh38]
Chr20:10633247 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.2372+13T>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001875638]|Alagille syndrome due to a JAG1 point mutation [RCV002503493] Chr20:10644344 [GRCh38]
Chr20:10624992 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1696C>G (p.His566Asp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001979265] Chr20:10647984 [GRCh38]
Chr20:10628632 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2209G>T (p.Gly737Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001904678] Chr20:10645161 [GRCh38]
Chr20:10625809 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.387G>A (p.Pro129=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV001957382] Chr20:10672701 [GRCh38]
Chr20:10653349 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.958T>C (p.Tyr320His) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002046779] Chr20:10652179 [GRCh38]
Chr20:10632827 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1721-18C>G single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002208303] Chr20:10647121 [GRCh38]
Chr20:10627769 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2826G>A (p.Gln942=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002075262]|not provided [RCV004704715] Chr20:10641550 [GRCh38]
Chr20:10622198 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.798C>T (p.Ile266=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002166217] Chr20:10652556 [GRCh38]
Chr20:10633204 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2344+16C>G single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002105181] Chr20:10644847 [GRCh38]
Chr20:10625495 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2000-13C>G single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002185852] Chr20:10645482 [GRCh38]
Chr20:10626130 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3531G>A (p.Thr1177=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002090581]|JAG1-related disorder [RCV004553701]|not provided [RCV004704719] Chr20:10639624 [GRCh38]
Chr20:10620272 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3048+18T>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002104963] Chr20:10641095 [GRCh38]
Chr20:10621743 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2673C>T (p.Ala891=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002108283]|Cardiovascular phenotype [RCV003365693]|JAG1-related disorder [RCV004553735] Chr20:10641792 [GRCh38]
Chr20:10622440 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1881T>C (p.His627=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002206934]|Cardiovascular phenotype [RCV003375572]|not provided [RCV004704701] Chr20:10646943 [GRCh38]
Chr20:10627591 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1014C>T (p.His338=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002110221]|JAG1-related disorder [RCV004553790] Chr20:10651687 [GRCh38]
Chr20:10632335 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1866G>C (p.Thr622=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002105806] Chr20:10646958 [GRCh38]
Chr20:10627606 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1885+11C>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002165704] Chr20:10646928 [GRCh38]
Chr20:10627576 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2916+13del deletion Alagille syndrome due to a JAG1 point mutation [RCV002107830] Chr20:10641447 [GRCh38]
Chr20:10622095 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2596A>G (p.Met866Val) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002071249]|not provided [RCV003438913] Chr20:10641869 [GRCh38]
Chr20:10622517 [GRCh37]
Chr20:20p12.2		 benign|uncertain significance
NM_000214.3(JAG1):c.695-5del deletion Alagille syndrome due to a JAG1 point mutation [RCV002129706] Chr20:10656463 [GRCh38]
Chr20:10637111 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.1668G>A (p.Glu556=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002167991] Chr20:10648012 [GRCh38]
Chr20:10628660 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1396-9_1396-7del microsatellite Alagille syndrome due to a JAG1 point mutation [RCV002128821]|JAG1-related disorder [RCV004553822] Chr20:10648729..10648731 [GRCh38]
Chr20:10629377..10629379 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1407T>C (p.Asn469=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002092508]|Cardiovascular phenotype [RCV004044933] Chr20:10648711 [GRCh38]
Chr20:10629359 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1859G>T (p.Gly620Val) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002210932] Chr20:10646965 [GRCh38]
Chr20:10627613 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.27G>C (p.Arg9=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002107585]|Arteriohepatic dysplasia [RCV005002173]|Cardiovascular phenotype [RCV002434486] Chr20:10673504 [GRCh38]
Chr20:10654152 [GRCh37]
Chr20:20p12.2		 likely benign|not provided
NM_000214.3(JAG1):c.945A>G (p.Thr315=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002085717]|Cardiovascular phenotype [RCV004631957] Chr20:10652192 [GRCh38]
Chr20:10632840 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.81+17G>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002146037] Chr20:10673433 [GRCh38]
Chr20:10654081 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.694+4TG[8] microsatellite Alagille syndrome due to a JAG1 point mutation [RCV002129820]|Alagille syndrome due to a JAG1 point mutation [RCV002500025] Chr20:10658450..10658451 [GRCh38]
Chr20:10639098..10639099 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.2458+15C>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002188680] Chr20:10643763 [GRCh38]
Chr20:10624411 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3003T>A (p.Ala1001=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002085147]|Cardiovascular phenotype [RCV002434467]|JAG1-related disorder [RCV004553693] Chr20:10641158 [GRCh38]
Chr20:10621806 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2458+16G>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002111816]|not specified [RCV003994397] Chr20:10643762 [GRCh38]
Chr20:10624410 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.2113+16C>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002092375] Chr20:10645340 [GRCh38]
Chr20:10625988 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1885+10C>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002106052] Chr20:10646929 [GRCh38]
Chr20:10627577 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3200-15G>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002089254] Chr20:10639970 [GRCh38]
Chr20:10620618 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2000-17C>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002172516] Chr20:10645486 [GRCh38]
Chr20:10626134 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2227+7T>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002212162] Chr20:10645136 [GRCh38]
Chr20:10625784 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2670C>T (p.Ile890=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002171418] Chr20:10641795 [GRCh38]
Chr20:10622443 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.732T>G (p.Ser244=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002133048]|Cardiovascular phenotype [RCV003161606] Chr20:10656421 [GRCh38]
Chr20:10637069 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3199+20A>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002080529] Chr20:10640763 [GRCh38]
Chr20:10621411 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3180G>A (p.Arg1060=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002104758] Chr20:10640802 [GRCh38]
Chr20:10621450 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2535C>G (p.Val845=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002153534] Chr20:10642525 [GRCh38]
Chr20:10623173 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2345-18_2345-17delinsAA indel Alagille syndrome due to a JAG1 point mutation [RCV002080779] Chr20:10644401..10644402 [GRCh38]
Chr20:10625049..10625050 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2572+14G>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002094366] Chr20:10642474 [GRCh38]
Chr20:10623122 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2572+11C>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002169780] Chr20:10642477 [GRCh38]
Chr20:10623125 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2345-10T>G single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002212458]|Alagille syndrome due to a JAG1 point mutation [RCV002498211]|JAG1-related disorder [RCV004553675] Chr20:10644394 [GRCh38]
Chr20:10625042 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1885+9C>G single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002116221] Chr20:10646930 [GRCh38]
Chr20:10627578 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.606C>T (p.Pro202=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002135249] Chr20:10658556 [GRCh38]
Chr20:10639204 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1680C>T (p.Cys560=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002125477]|Cardiovascular phenotype [RCV003375594] Chr20:10648000 [GRCh38]
Chr20:10628648 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2227+14C>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002150963] Chr20:10645129 [GRCh38]
Chr20:10625777 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.387+10dup duplication Alagille syndrome due to a JAG1 point mutation [RCV002213944] Chr20:10672690..10672691 [GRCh38]
Chr20:10653338..10653339 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.123C>T (p.Ser41=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002078220] Chr20:10672965 [GRCh38]
Chr20:10653613 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.867C>T (p.Gly289=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002080885]|Cardiovascular phenotype [RCV002372885] Chr20:10652487 [GRCh38]
Chr20:10633135 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.388-12T>G single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002174927] Chr20:10664026 [GRCh38]
Chr20:10644674 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.18G>A (p.Thr6=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002110632]|Cardiovascular phenotype [RCV002409561] Chr20:10673513 [GRCh38]
Chr20:10654161 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3000C>T (p.Ile1000=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002078069]|JAG1-related disorder [RCV004553650] Chr20:10641161 [GRCh38]
Chr20:10621809 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.39C>T (p.Pro13=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002174020] Chr20:10673492 [GRCh38]
Chr20:10654140 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1272C>T (p.Ala424=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002191147] Chr20:10649598 [GRCh38]
Chr20:10630246 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3108C>T (p.Ile1036=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002086896] Chr20:10640874 [GRCh38]
Chr20:10621522 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.387+15G>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002173109] Chr20:10672686 [GRCh38]
Chr20:10653334 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2379C>A (p.Asn793Lys) single nucleotide variant Cardiovascular phenotype [RCV004047212]|not provided [RCV002223462] Chr20:10643857 [GRCh38]
Chr20:10624505 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1885+12T>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002091343]|Alagille syndrome due to a JAG1 point mutation [RCV002494185]|not specified [RCV004700611] Chr20:10646927 [GRCh38]
Chr20:10627575 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3477C>T (p.Asp1159=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002096134]|Cardiovascular phenotype [RCV002454439] Chr20:10639678 [GRCh38]
Chr20:10620326 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3360C>T (p.Asn1120=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002173707] Chr20:10639795 [GRCh38]
Chr20:10620443 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2458+18C>G single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002114083] Chr20:10643760 [GRCh38]
Chr20:10624408 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1349-20A>G single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002171924] Chr20:10649127 [GRCh38]
Chr20:10629775 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2997C>T (p.Tyr999=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002186331] Chr20:10641164 [GRCh38]
Chr20:10621812 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.819C>T (p.His273=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002088521]|Alagille syndrome due to a JAG1 point mutation [RCV002498314]|Cardiovascular phenotype [RCV003161463] Chr20:10652535 [GRCh38]
Chr20:10633183 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1121-14_1121-10del deletion Alagille syndrome due to a JAG1 point mutation [RCV002073638]|JAG1-related disorder [RCV004729074] Chr20:10650370..10650374 [GRCh38]
Chr20:10631018..10631022 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.468T>C (p.Ser156=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002096232]|Cardiovascular phenotype [RCV003289441] Chr20:10658694 [GRCh38]
Chr20:10639342 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2114-18T>G single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002193898] Chr20:10645274 [GRCh38]
Chr20:10625922 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2419G>A (p.Glu807Lys) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005058158]|not provided [RCV002224193] Chr20:10643817 [GRCh38]
Chr20:10624465 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2682+19C>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002150759] Chr20:10641764 [GRCh38]
Chr20:10622412 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.307G>C (p.Gly103Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003089169]|Cardiovascular phenotype [RCV004631978]|not provided [RCV002224352] Chr20:10672781 [GRCh38]
Chr20:10653429 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1446T>C (p.Asp482=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002192340] Chr20:10648672 [GRCh38]
Chr20:10629320 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3522G>A (p.Pro1174=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002115652]|Cardiovascular phenotype [RCV004046275]|not provided [RCV003138080] Chr20:10639633 [GRCh38]
Chr20:10620281 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.1396-16C>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002095213] Chr20:10648738 [GRCh38]
Chr20:10629386 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1886-8T>G single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002103636] Chr20:10646092 [GRCh38]
Chr20:10626740 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1349-7T>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002121335]|Alagille syndrome due to a JAG1 point mutation [RCV002494401] Chr20:10649114 [GRCh38]
Chr20:10629762 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.886+15del deletion Alagille syndrome due to a JAG1 point mutation [RCV002197695] Chr20:10652453 [GRCh38]
Chr20:10633101 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.755+7del deletion Alagille syndrome due to a JAG1 point mutation [RCV002083114] Chr20:10656391 [GRCh38]
Chr20:10637039 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1155C>T (p.His385=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002218497]|Cardiovascular phenotype [RCV002361466] Chr20:10650326 [GRCh38]
Chr20:10630974 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2916+12C>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002220809] Chr20:10641448 [GRCh38]
Chr20:10622096 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2228-13T>G single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002138325]|Alagille syndrome due to a JAG1 point mutation [RCV002500291] Chr20:10644992 [GRCh38]
Chr20:10625640 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.388-13G>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002103081] Chr20:10664027 [GRCh38]
Chr20:10644675 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.327C>T (p.Leu109=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002161279]|Cardiovascular phenotype [RCV004631975] Chr20:10672761 [GRCh38]
Chr20:10653409 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1885+13C>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002220249] Chr20:10646926 [GRCh38]
Chr20:10627574 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2412C>T (p.Tyr804=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002101839] Chr20:10643824 [GRCh38]
Chr20:10624472 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.975T>G (p.Pro325=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002182849]|Alagille syndrome due to a JAG1 point mutation [RCV002498162]|Cardiovascular phenotype [RCV003355796] Chr20:10652162 [GRCh38]
Chr20:10632810 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2000-11T>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002179189] Chr20:10645480 [GRCh38]
Chr20:10626128 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.694+17G>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002083446] Chr20:10658451 [GRCh38]
Chr20:10639099 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2344+15C>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002098642] Chr20:10644848 [GRCh38]
Chr20:10625496 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1797T>C (p.Cys599=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002143485]|Alagille syndrome due to a JAG1 point mutation [RCV002500288]|Cardiovascular phenotype [RCV002409574]|JAG1-related disorder [RCV004553828] Chr20:10647027 [GRCh38]
Chr20:10627675 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.1569+17C>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002084109] Chr20:10648532 [GRCh38]
Chr20:10629180 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1349-19T>G single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002141969] Chr20:10649126 [GRCh38]
Chr20:10629774 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.677dup (p.Glu228fs) duplication Alagille syndrome due to a JAG1 point mutation [RCV002227302] Chr20:10658484..10658485 [GRCh38]
Chr20:10639132..10639133 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.2916+17G>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002162725]|Alagille syndrome due to a JAG1 point mutation [RCV002494314] Chr20:10641443 [GRCh38]
Chr20:10622091 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3540C>T (p.Asp1180=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002099918] Chr20:10639615 [GRCh38]
Chr20:10620263 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3199+13T>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002142599]|not provided [RCV004704790] Chr20:10640770 [GRCh38]
Chr20:10621418 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3200-16T>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002139393] Chr20:10639971 [GRCh38]
Chr20:10620619 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.887-15G>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002182704] Chr20:10652265 [GRCh38]
Chr20:10632913 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2973T>C (p.Asn991=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002180890] Chr20:10641188 [GRCh38]
Chr20:10621836 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2344+17del deletion Alagille syndrome due to a JAG1 point mutation [RCV002118104]|Alagille syndrome due to a JAG1 point mutation [RCV002500045] Chr20:10644846 [GRCh38]
Chr20:10625494 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.48C>T (p.Leu16=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002221022]|Cardiovascular phenotype [RCV002331707]|JAG1-related disorder [RCV004553685] Chr20:10673483 [GRCh38]
Chr20:10654131 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2682+20G>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002159796]|Alagille syndrome due to a JAG1 point mutation [RCV002498119] Chr20:10641763 [GRCh38]
Chr20:10622411 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1720+14C>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002161743] Chr20:10647946 [GRCh38]
Chr20:10628594 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1570-20G>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002181216]|Alagille syndrome due to a JAG1 point mutation [RCV002500386] Chr20:10648130 [GRCh38]
Chr20:10628778 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.684A>G (p.Glu228=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002219742] Chr20:10658478 [GRCh38]
Chr20:10639126 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.755+9del deletion Alagille syndrome due to a JAG1 point mutation [RCV002162316] Chr20:10656389 [GRCh38]
Chr20:10637037 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2344+16C>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002103712] Chr20:10644847 [GRCh38]
Chr20:10625495 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1120+11T>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002220827]|Alagille syndrome due to a JAG1 point mutation [RCV002507921] Chr20:10651570 [GRCh38]
Chr20:10632218 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2589C>T (p.Cys863=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002183395]|Cardiovascular phenotype [RCV004631965] Chr20:10641876 [GRCh38]
Chr20:10622524 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1006+10C>G single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002200048] Chr20:10652121 [GRCh38]
Chr20:10632769 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2139G>A (p.Thr713=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002136097]|Cardiovascular phenotype [RCV003161627] Chr20:10645231 [GRCh38]
Chr20:10625879 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.82-19C>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002184040] Chr20:10673025 [GRCh38]
Chr20:10653673 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3199+16G>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002144100] Chr20:10640767 [GRCh38]
Chr20:10621415 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.165C>T (p.Cys55=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002182040] Chr20:10672923 [GRCh38]
Chr20:10653571 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3381G>A (p.Glu1127=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002182093] Chr20:10639774 [GRCh38]
Chr20:10620422 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2853C>T (p.Asp951=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002219735]|Alagille syndrome due to a JAG1 point mutation [RCV005025694]|Cardiovascular phenotype [RCV004045674] Chr20:10641523 [GRCh38]
Chr20:10622171 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3147T>C (p.Ile1049=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002184643]|Cardiovascular phenotype [RCV004045078] Chr20:10640835 [GRCh38]
Chr20:10621483 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2994C>T (p.Ile998=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002122611] Chr20:10641167 [GRCh38]
Chr20:10621815 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1396-17C>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002144648] Chr20:10648739 [GRCh38]
Chr20:10629387 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1807G>A (p.Gly603Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV004789884] Chr20:10647017 [GRCh38]
Chr20:10627665 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2228-12C>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003112646] Chr20:10644991 [GRCh38]
Chr20:10625639 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.694+20T>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003114865] Chr20:10658448 [GRCh38]
Chr20:10639096 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1654C>T (p.Pro552Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003118064] Chr20:10648026 [GRCh38]
Chr20:10628674 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.620T>C (p.Phe207Ser) single nucleotide variant not provided [RCV004784281] Chr20:10658542 [GRCh38]
Chr20:10639190 [GRCh37]
Chr20:20p12.2		 uncertain significance
NC_000020.10:g.(?_10653329)_(10654278_?)del deletion Alagille syndrome due to a JAG1 point mutation [RCV003122183] Chr20:10653329..10654278 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3557C>T (p.Pro1186Leu) single nucleotide variant not provided [RCV003149331] Chr20:10639598 [GRCh38]
Chr20:10620246 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3007G>T (p.Glu1003Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002244289] Chr20:10641154 [GRCh38]
Chr20:10621802 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2458+1G>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002250059] Chr20:10643777 [GRCh38]
Chr20:10624425 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.203G>C (p.Arg68Pro) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003101328]|Cardiovascular phenotype [RCV004045187]|not specified [RCV002247908] Chr20:10672885 [GRCh38]
Chr20:10653533 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.1713del (p.Cys572fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV003153042]|JAG1-related disorder [RCV004741463] Chr20:10647967 [GRCh38]
Chr20:10628615 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1729_1732dup (p.Cys578Ter) duplication Alagille syndrome due to a JAG1 point mutation [RCV004556114] Chr20:10647091..10647092 [GRCh38]
Chr20:10627739..10627740 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.647del (p.Gly216fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV002283618] Chr20:10658515 [GRCh38]
Chr20:10639163 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.438_439+2del deletion Alagille syndrome due to a JAG1 point mutation [RCV003509709]|not provided [RCV002278975] Chr20:10663961..10663964 [GRCh38]
Chr20:10644609..10644612 [GRCh37]
Chr20:20p12.2		 pathogenic|likely pathogenic
NM_000214.3(JAG1):c.2210del (p.Gly737fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV002285212] Chr20:10645160 [GRCh38]
Chr20:10625808 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.470A>C (p.His157Pro) single nucleotide variant Arteriohepatic dysplasia [RCV005002174]|not provided [RCV002276097] Chr20:10658692 [GRCh38]
Chr20:10639340 [GRCh37]
Chr20:20p12.2		 uncertain significance|not provided
NM_000214.3(JAG1):c.391T>C (p.Ser131Pro) single nucleotide variant not provided [RCV002283138] Chr20:10664011 [GRCh38]
Chr20:10644659 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2750G>C (p.Cys917Ser) single nucleotide variant not provided [RCV002293949] Chr20:10641626 [GRCh38]
Chr20:10622274 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.74dup (p.Ala26fs) duplication Alagille syndrome due to a JAG1 point mutation [RCV002285224] Chr20:10673456..10673457 [GRCh38]
Chr20:10654104..10654105 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1303_1304dup (p.Cys436fs) duplication Alagille syndrome due to a JAG1 point mutation [RCV002283978] Chr20:10649565..10649566 [GRCh38]
Chr20:10630213..10630214 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.789_791del (p.Asp263_Lys264delinsGlu) deletion Alagille syndrome due to a JAG1 point mutation [RCV002285218] Chr20:10652563..10652565 [GRCh38]
Chr20:10633211..10633213 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.213_214delinsC (p.Asp72fs) indel Alagille syndrome due to a JAG1 point mutation [RCV002285220] Chr20:10672874..10672875 [GRCh38]
Chr20:10653522..10653523 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.2048G>A (p.Arg683His) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002273009] Chr20:10645421 [GRCh38]
Chr20:10626069 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.546G>C (p.Gln182His) single nucleotide variant not provided [RCV002269580] Chr20:10658616 [GRCh38]
Chr20:10639264 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2264A>G (p.Asn755Ser) single nucleotide variant not provided [RCV002269743] Chr20:10644943 [GRCh38]
Chr20:10625591 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.106G>A (p.Glu36Lys) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002285221]|Arteriohepatic dysplasia [RCV005002175] Chr20:10672982 [GRCh38]
Chr20:10653630 [GRCh37]
Chr20:20p12.2		 likely pathogenic|not provided
NM_000214.3(JAG1):c.702C>A (p.Cys234Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002285223] Chr20:10656451 [GRCh38]
Chr20:10637099 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.3164T>A (p.Val1055Glu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002289478]|Alagille syndrome due to a JAG1 point mutation [RCV005032231] Chr20:10640818 [GRCh38]
Chr20:10621466 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.235C>T (p.Leu79Phe) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002291489]|Arteriohepatic dysplasia [RCV005002176] Chr20:10672853 [GRCh38]
Chr20:10653501 [GRCh37]
Chr20:20p12.2		 likely pathogenic|not provided
NM_000214.3(JAG1):c.785G>A (p.Cys262Tyr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002297658]|Arteriohepatic dysplasia [RCV005002177] Chr20:10652569 [GRCh38]
Chr20:10633217 [GRCh37]
Chr20:20p12.2		 uncertain significance|not provided
NM_000214.3(JAG1):c.111G>A (p.Leu37=) single nucleotide variant Cardiovascular phenotype [RCV002438011] Chr20:10672977 [GRCh38]
Chr20:10653625 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2665C>G (p.Arg889Gly) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003102086]|Cardiovascular phenotype [RCV002453135] Chr20:10641800 [GRCh38]
Chr20:10622448 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.1238C>T (p.Ala413Val) single nucleotide variant Cardiovascular phenotype [RCV002367534] Chr20:10649632 [GRCh38]
Chr20:10630280 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2858A>G (p.Tyr953Cys) single nucleotide variant Cardiovascular phenotype [RCV002435433] Chr20:10641518 [GRCh38]
Chr20:10622166 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1330G>C (p.Gly444Arg) single nucleotide variant Cardiovascular phenotype [RCV002387489] Chr20:10649540 [GRCh38]
Chr20:10630188 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3653T>A (p.Val1218Glu) single nucleotide variant Cardiovascular phenotype [RCV002452499] Chr20:10639502 [GRCh38]
Chr20:10620150 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.28T>C (p.Ser10Pro) single nucleotide variant Cardiovascular phenotype [RCV002438060] Chr20:10673503 [GRCh38]
Chr20:10654151 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3579C>G (p.His1193Gln) single nucleotide variant Cardiovascular phenotype [RCV002455056] Chr20:10639576 [GRCh38]
Chr20:10620224 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2652G>T (p.Gln884His) single nucleotide variant Cardiovascular phenotype [RCV002453078] Chr20:10641813 [GRCh38]
Chr20:10622461 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.199A>G (p.Thr67Ala) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002297201] Chr20:10672889 [GRCh38]
Chr20:10653537 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.635G>C (p.Cys212Ser) single nucleotide variant Cardiovascular phenotype [RCV002369024] Chr20:10658527 [GRCh38]
Chr20:10639175 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1330G>A (p.Gly444Ser) single nucleotide variant Cardiovascular phenotype [RCV002387487] Chr20:10649540 [GRCh38]
Chr20:10630188 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.202C>T (p.Arg68Cys) single nucleotide variant Cardiovascular phenotype [RCV002419764] Chr20:10672886 [GRCh38]
Chr20:10653534 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3387T>C (p.His1129=) single nucleotide variant Cardiovascular phenotype [RCV002451874] Chr20:10639768 [GRCh38]
Chr20:10620416 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2829G>T (p.Pro943=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003102762]|Cardiovascular phenotype [RCV002435070] Chr20:10641547 [GRCh38]
Chr20:10622195 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1283A>G (p.Lys428Arg) single nucleotide variant Cardiovascular phenotype [RCV002387312] Chr20:10649587 [GRCh38]
Chr20:10630235 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3297G>C (p.Pro1099=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005058289]|Cardiovascular phenotype [RCV002454656] Chr20:10639858 [GRCh38]
Chr20:10620506 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.709G>A (p.Gly237Ser) single nucleotide variant Cardiovascular phenotype [RCV002367329] Chr20:10656444 [GRCh38]
Chr20:10637092 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.262G>A (p.Ala88Thr) single nucleotide variant not provided [RCV003152049] Chr20:10672826 [GRCh38]
Chr20:10653474 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.776G>A (p.Gly259Asp) single nucleotide variant not provided [RCV003129143] Chr20:10652578 [GRCh38]
Chr20:10633226 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.925G>T (p.Gly309Trp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003148259] Chr20:10652212 [GRCh38]
Chr20:10632860 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1747G>A (p.Ala583Thr) single nucleotide variant not provided [RCV003131287] Chr20:10647077 [GRCh38]
Chr20:10627725 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.194A>G (p.Lys65Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002726659] Chr20:10672894 [GRCh38]
Chr20:10653542 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2270G>A (p.Gly757Asp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002302312]|Alagille syndrome due to a JAG1 point mutation [RCV005025782] Chr20:10644937 [GRCh38]
Chr20:10625585 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.513G>A (p.Lys171=) single nucleotide variant Cardiovascular phenotype [RCV002344248] Chr20:10658649 [GRCh38]
Chr20:10639297 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1181dup (p.Asn394fs) duplication Alagille syndrome due to a JAG1 point mutation [RCV002471952] Chr20:10650299..10650300 [GRCh38]
Chr20:10630947..10630948 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.830A>G (p.Asn277Ser) single nucleotide variant not provided [RCV002505979]|not specified [RCV004526933] Chr20:10652524 [GRCh38]
Chr20:10633172 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3648C>A (p.Tyr1216Ter) single nucleotide variant not provided [RCV003156671] Chr20:10639507 [GRCh38]
Chr20:10620155 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3124C>T (p.Arg1042Cys) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003099218]|Cardiovascular phenotype [RCV002320515]|JAG1-related disorder [RCV004548273] Chr20:10640858 [GRCh38]
Chr20:10621506 [GRCh37]
Chr20:20p12.2		 benign|uncertain significance
NM_000214.3(JAG1):c.1388C>T (p.Ser463Phe) single nucleotide variant Cardiovascular phenotype [RCV002396590] Chr20:10649068 [GRCh38]
Chr20:10629716 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.719C>T (p.Pro240Leu) single nucleotide variant Arteriohepatic dysplasia [RCV005002178]|Cardiovascular phenotype [RCV002370817] Chr20:10656434 [GRCh38]
Chr20:10637082 [GRCh37]
Chr20:20p12.2		 uncertain significance|not provided
NM_000214.3(JAG1):c.3431C>G (p.Ser1144Cys) single nucleotide variant Cardiovascular phenotype [RCV002457032] Chr20:10639724 [GRCh38]
Chr20:10620372 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.406G>T (p.Val136Leu) single nucleotide variant Cardiovascular phenotype [RCV002321460] Chr20:10663996 [GRCh38]
Chr20:10644644 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1984del (p.Ala662fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV003097407]|Cardiovascular phenotype [RCV002423726] Chr20:10645986 [GRCh38]
Chr20:10626634 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3558C>T (p.Pro1186=) single nucleotide variant Cardiovascular phenotype [RCV002339755] Chr20:10639597 [GRCh38]
Chr20:10620245 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.89G>A (p.Gly30Glu) single nucleotide variant Cardiovascular phenotype [RCV002376333] Chr20:10672999 [GRCh38]
Chr20:10653647 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3112C>A (p.Leu1038Ile) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003099205]|Alagille syndrome due to a JAG1 point mutation [RCV005025792]|Cardiovascular phenotype [RCV002326104] Chr20:10640870 [GRCh38]
Chr20:10621518 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3112C>G (p.Leu1038Val) single nucleotide variant Cardiovascular phenotype [RCV002326105] Chr20:10640870 [GRCh38]
Chr20:10621518 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1372T>C (p.Cys458Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005097478]|Cardiovascular phenotype [RCV002383741]|JAG1-related disorder [RCV004741288] Chr20:10649084 [GRCh38]
Chr20:10629732 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2030A>C (p.His677Pro) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002303462] Chr20:10645439 [GRCh38]
Chr20:10626087 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.42A>G (p.Leu14=) single nucleotide variant Cardiovascular phenotype [RCV002330291] Chr20:10673489 [GRCh38]
Chr20:10654137 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3581C>T (p.Pro1194Leu) single nucleotide variant Cardiovascular phenotype [RCV002339806] Chr20:10639574 [GRCh38]
Chr20:10620222 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3169G>C (p.Val1057Leu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003099256]|Cardiovascular phenotype [RCV002322601] Chr20:10640813 [GRCh38]
Chr20:10621461 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1712C>A (p.Pro571His) single nucleotide variant Cardiovascular phenotype [RCV002398924] Chr20:10647968 [GRCh38]
Chr20:10628616 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2923A>G (p.Thr975Ala) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002301114] Chr20:10641238 [GRCh38]
Chr20:10621886 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3309A>T (p.Thr1103=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003099385]|Cardiovascular phenotype [RCV002326270] Chr20:10639846 [GRCh38]
Chr20:10620494 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.6T>G (p.Arg2=) single nucleotide variant Cardiovascular phenotype [RCV002378240] Chr20:10673525 [GRCh38]
Chr20:10654173 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.651C>A (p.Asn217Lys) single nucleotide variant Cardiovascular phenotype [RCV002364208] Chr20:10658511 [GRCh38]
Chr20:10639159 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3209T>C (p.Val1070Ala) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005058278]|Cardiovascular phenotype [RCV002323033] Chr20:10639946 [GRCh38]
Chr20:10620594 [GRCh37]
Chr20:20p12.2		 benign|uncertain significance
NM_000214.3(JAG1):c.2290G>A (p.Glu764Lys) single nucleotide variant Cardiovascular phenotype [RCV002457479] Chr20:10644917 [GRCh38]
Chr20:10625565 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3265T>C (p.Phe1089Leu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003099346]|Alagille syndrome due to a JAG1 point mutation [RCV005025794]|Cardiovascular phenotype [RCV002324989] Chr20:10639890 [GRCh38]
Chr20:10620538 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3226G>A (p.Val1076Ile) single nucleotide variant Cardiovascular phenotype [RCV002324704] Chr20:10639929 [GRCh38]
Chr20:10620577 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1022T>C (p.Leu341Pro) single nucleotide variant Cardiovascular phenotype [RCV002373545] Chr20:10651679 [GRCh38]
Chr20:10632327 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.505A>G (p.Thr169Ala) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002295673] Chr20:10658657 [GRCh38]
Chr20:10639305 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1896C>T (p.Asp632=) single nucleotide variant Cardiovascular phenotype [RCV002408109] Chr20:10646074 [GRCh38]
Chr20:10626722 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.165C>A (p.Cys55Ter) single nucleotide variant Cardiovascular phenotype [RCV002395082] Chr20:10672923 [GRCh38]
Chr20:10653571 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.428A>T (p.Asn143Ile) single nucleotide variant Cardiovascular phenotype [RCV002330181] Chr20:10663974 [GRCh38]
Chr20:10644622 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2557G>A (p.Ala853Thr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003101968]|Cardiovascular phenotype [RCV002455839] Chr20:10642503 [GRCh38]
Chr20:10623151 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.335G>A (p.Ser112Asn) single nucleotide variant Cardiovascular phenotype [RCV002321064] Chr20:10672753 [GRCh38]
Chr20:10653401 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1591C>A (p.Pro531Thr) single nucleotide variant Cardiovascular phenotype [RCV002398442] Chr20:10648089 [GRCh38]
Chr20:10628737 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2489C>T (p.Ala830Val) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005032272]|Cardiovascular phenotype [RCV002430897] Chr20:10642571 [GRCh38]
Chr20:10623219 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1654C>G (p.Pro552Ala) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003619792]|Cardiovascular phenotype [RCV002403707] Chr20:10648026 [GRCh38]
Chr20:10628674 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.190C>T (p.Arg64Cys) single nucleotide variant Cardiovascular phenotype [RCV002408432] Chr20:10672898 [GRCh38]
Chr20:10653546 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1438G>T (p.Ala480Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003103692]|Cardiovascular phenotype [RCV002394310]|JAG1-related disorder [RCV004548290] Chr20:10648680 [GRCh38]
Chr20:10629328 [GRCh37]
Chr20:20p12.2		 benign|uncertain significance
NM_000214.3(JAG1):c.2934C>T (p.His978=) single nucleotide variant Cardiovascular phenotype [RCV002440101] Chr20:10641227 [GRCh38]
Chr20:10621875 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1274A>G (p.Lys425Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003100118]|Cardiovascular phenotype [RCV002450050] Chr20:10649596 [GRCh38]
Chr20:10630244 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.3172C>T (p.Gln1058Ter) single nucleotide variant Cardiovascular phenotype [RCV002322653] Chr20:10640810 [GRCh38]
Chr20:10621458 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3097G>A (p.Asp1033Asn) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003099191]|Cardiovascular phenotype [RCV002325866] Chr20:10640885 [GRCh38]
Chr20:10621533 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.3169G>A (p.Val1057Ile) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005032238]|Cardiovascular phenotype [RCV002322600] Chr20:10640813 [GRCh38]
Chr20:10621461 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1056G>C (p.Lys352Asn) single nucleotide variant not provided [RCV002305952] Chr20:10651645 [GRCh38]
Chr20:10632293 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.182C>T (p.Pro61Leu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003774520]|Cardiovascular phenotype [RCV002410514] Chr20:10672906 [GRCh38]
Chr20:10653554 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.1254C>T (p.Ala418=) single nucleotide variant Cardiovascular phenotype [RCV002412395] Chr20:10649616 [GRCh38]
Chr20:10630264 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1209G>A (p.Gln403=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003509722]|Cardiovascular phenotype [RCV002359692] Chr20:10650272 [GRCh38]
Chr20:10630920 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3455A>C (p.His1152Pro) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002299150] Chr20:10639700 [GRCh38]
Chr20:10620348 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2962A>G (p.Ile988Val) single nucleotide variant Cardiovascular phenotype [RCV002441996] Chr20:10641199 [GRCh38]
Chr20:10621847 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3487A>G (p.Lys1163Glu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002296642] Chr20:10639668 [GRCh38]
Chr20:10620316 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2978C>T (p.Ser993Phe) single nucleotide variant Cardiovascular phenotype [RCV002442164] Chr20:10641183 [GRCh38]
Chr20:10621831 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2995T>C (p.Tyr999His) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002296613] Chr20:10641166 [GRCh38]
Chr20:10621814 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1424dup (p.Cys475fs) duplication Cardiovascular phenotype [RCV002391897] Chr20:10648693..10648694 [GRCh38]
Chr20:10629341..10629342 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3503C>G (p.Ala1168Gly) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003619767]|Cardiovascular phenotype [RCV002459160] Chr20:10639652 [GRCh38]
Chr20:10620300 [GRCh37]
Chr20:20p12.2		 benign|uncertain significance
NM_000214.3(JAG1):c.1706C>G (p.Thr569Arg) single nucleotide variant Cardiovascular phenotype [RCV002398801] Chr20:10647974 [GRCh38]
Chr20:10628622 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.183G>C (p.Pro61=) single nucleotide variant Cardiovascular phenotype [RCV002412826] Chr20:10672905 [GRCh38]
Chr20:10653553 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1181A>G (p.Asn394Ser) single nucleotide variant Cardiovascular phenotype [RCV002335121] Chr20:10650300 [GRCh38]
Chr20:10630948 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1230G>A (p.Gln410=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003098383]|Cardiovascular phenotype [RCV002369453] Chr20:10650251 [GRCh38]
Chr20:10630899 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.3538G>A (p.Asp1180Asn) single nucleotide variant Cardiovascular phenotype [RCV002459457]|not provided [RCV003128858] Chr20:10639617 [GRCh38]
Chr20:10620265 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1936G>A (p.Asp646Asn) single nucleotide variant Cardiovascular phenotype [RCV002411003] Chr20:10646034 [GRCh38]
Chr20:10626682 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2510A>T (p.Asp837Val) single nucleotide variant Cardiovascular phenotype [RCV002455663] Chr20:10642550 [GRCh38]
Chr20:10623198 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2430G>A (p.Pro810=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003101810]|Cardiovascular phenotype [RCV002459887] Chr20:10643806 [GRCh38]
Chr20:10624454 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.77C>T (p.Ala26Val) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005025807]|Cardiovascular phenotype [RCV002409900] Chr20:10673454 [GRCh38]
Chr20:10654102 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2065T>C (p.Phe689Leu) single nucleotide variant Cardiovascular phenotype [RCV002422037] Chr20:10645404 [GRCh38]
Chr20:10626052 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.255C>T (p.Arg85=) single nucleotide variant Cardiovascular phenotype [RCV002455852] Chr20:10672833 [GRCh38]
Chr20:10653481 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.939C>T (p.Ser313=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003509745]|Cardiovascular phenotype [RCV002443399] Chr20:10652198 [GRCh38]
Chr20:10632846 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2765A>G (p.Asp922Gly) single nucleotide variant Cardiovascular phenotype [RCV002439540] Chr20:10641611 [GRCh38]
Chr20:10622259 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.5G>A (p.Arg2His) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003619775]|Cardiovascular phenotype [RCV002357985] Chr20:10673526 [GRCh38]
Chr20:10654174 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2932C>T (p.His978Tyr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002300516] Chr20:10641229 [GRCh38]
Chr20:10621877 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3199+17A>G single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003014763] Chr20:10640766 [GRCh38]
Chr20:10621414 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2228-3T>G single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002880526] Chr20:10644982 [GRCh38]
Chr20:10625630 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.994A>T (p.Asn332Tyr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003015737] Chr20:10652143 [GRCh38]
Chr20:10632791 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1249G>A (p.Glu417Lys) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002837534] Chr20:10649621 [GRCh38]
Chr20:10630269 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.566A>G (p.Asp189Gly) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003073783]|Cardiovascular phenotype [RCV003171004] Chr20:10658596 [GRCh38]
Chr20:10639244 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.1664A>G (p.Tyr555Cys) single nucleotide variant Cardiovascular phenotype [RCV004126497] Chr20:10648016 [GRCh38]
Chr20:10628664 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1627del (p.Arg543fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV002881093]|JAG1-related disorder [RCV003336779] Chr20:10648053 [GRCh38]
Chr20:10628701 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.200C>G (p.Thr67Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003013519] Chr20:10672888 [GRCh38]
Chr20:10653536 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1297A>G (p.Ser433Gly) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002843019] Chr20:10649573 [GRCh38]
Chr20:10630221 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3531G>T (p.Thr1177=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002616373]|Cardiovascular phenotype [RCV004070542] Chr20:10639624 [GRCh38]
Chr20:10620272 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2459-15del deletion Alagille syndrome due to a JAG1 point mutation [RCV002863054] Chr20:10642616 [GRCh38]
Chr20:10623264 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1386C>T (p.Ala462=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002819456] Chr20:10649070 [GRCh38]
Chr20:10629718 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1235-18A>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003033899] Chr20:10649653 [GRCh38]
Chr20:10630301 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3534G>T (p.Leu1178=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002819985] Chr20:10639621 [GRCh38]
Chr20:10620269 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2572+4T>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002996529] Chr20:10642484 [GRCh38]
Chr20:10623132 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3340A>G (p.Asn1114Asp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002815754] Chr20:10639815 [GRCh38]
Chr20:10620463 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2645C>T (p.Thr882Ile) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002858107] Chr20:10641820 [GRCh38]
Chr20:10622468 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1121-20C>G single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003073677] Chr20:10650380 [GRCh38]
Chr20:10631028 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.771G>T (p.Trp257Cys) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002842042]|Arteriohepatic dysplasia [RCV005002179] Chr20:10652583 [GRCh38]
Chr20:10633231 [GRCh37]
Chr20:20p12.2		 uncertain significance|not provided
NM_000214.3(JAG1):c.192C>A (p.Arg64=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002972039]|Cardiovascular phenotype [RCV004068345] Chr20:10672896 [GRCh38]
Chr20:10653544 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2228-18T>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002908377] Chr20:10644997 [GRCh38]
Chr20:10625645 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.174C>T (p.Ala58=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002908614] Chr20:10672914 [GRCh38]
Chr20:10653562 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.82-25ACCT[3] microsatellite Alagille syndrome due to a JAG1 point mutation [RCV002947137] Chr20:10673023..10673024 [GRCh38]
Chr20:10653671..10653672 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.422C>A (p.Ser141Tyr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002908120] Chr20:10663980 [GRCh38]
Chr20:10644628 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2682G>T (p.Lys894Asn) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002794768] Chr20:10641783 [GRCh38]
Chr20:10622431 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3554C>T (p.Pro1185Leu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002842705] Chr20:10639601 [GRCh38]
Chr20:10620249 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2143A>C (p.Asn715His) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002947222] Chr20:10645227 [GRCh38]
Chr20:10625875 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.627C>A (p.His209Gln) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002775041] Chr20:10658535 [GRCh38]
Chr20:10639183 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.54C>T (p.Leu18=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002972531] Chr20:10673477 [GRCh38]
Chr20:10654125 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.786T>G (p.Cys262Trp) single nucleotide variant Arteriohepatic dysplasia [RCV005002540] Chr20:10652568 [GRCh38]
Chr20:10633216 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.818A>T (p.His273Leu) single nucleotide variant Arteriohepatic dysplasia [RCV005002547] Chr20:10652536 [GRCh38]
Chr20:10633184 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.853G>C (p.Glu285Gln) single nucleotide variant Arteriohepatic dysplasia [RCV005002552] Chr20:10652501 [GRCh38]
Chr20:10633149 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.868G>T (p.Gly290Cys) single nucleotide variant Arteriohepatic dysplasia [RCV005002558] Chr20:10652486 [GRCh38]
Chr20:10633134 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.881A>G (p.Asp294Gly) single nucleotide variant Arteriohepatic dysplasia [RCV005002563] Chr20:10652473 [GRCh38]
Chr20:10633121 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.118C>G (p.Leu40Val) single nucleotide variant Arteriohepatic dysplasia [RCV005002565] Chr20:10672970 [GRCh38]
Chr20:10653618 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.895T>G (p.Tyr299Asp) single nucleotide variant Arteriohepatic dysplasia [RCV005002570] Chr20:10652242 [GRCh38]
Chr20:10632890 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.899G>A (p.Cys300Tyr) single nucleotide variant Arteriohepatic dysplasia [RCV005002572] Chr20:10652238 [GRCh38]
Chr20:10632886 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.156G>C (p.Gly52=) single nucleotide variant Arteriohepatic dysplasia [RCV005002590] Chr20:10672932 [GRCh38]
Chr20:10653580 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.157A>C (p.Asn53His) single nucleotide variant Arteriohepatic dysplasia [RCV005002591] Chr20:10672931 [GRCh38]
Chr20:10653579 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.304A>G (p.Ile102Val) single nucleotide variant Arteriohepatic dysplasia [RCV005002613] Chr20:10672784 [GRCh38]
Chr20:10653432 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.371T>C (p.Phe124Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002618] Chr20:10672717 [GRCh38]
Chr20:10653365 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.380C>A (p.Ala127Asp) single nucleotide variant Arteriohepatic dysplasia [RCV005002619] Chr20:10672708 [GRCh38]
Chr20:10653356 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.50T>G (p.Leu17Arg) single nucleotide variant Arteriohepatic dysplasia [RCV005002621] Chr20:10673481 [GRCh38]
Chr20:10654129 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.3017C>G (p.Pro1006Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003034633] Chr20:10641144 [GRCh38]
Chr20:10621792 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2538C>A (p.Cys846Ter) single nucleotide variant not provided [RCV003152036] Chr20:10642522 [GRCh38]
Chr20:10623170 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.773A>C (p.Gln258Pro) single nucleotide variant Arteriohepatic dysplasia [RCV005002538] Chr20:10652581 [GRCh38]
Chr20:10633229 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.784T>G (p.Cys262Gly) single nucleotide variant Arteriohepatic dysplasia [RCV005002542] Chr20:10652570 [GRCh38]
Chr20:10633218 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.801A>T (p.Pro267=) single nucleotide variant Arteriohepatic dysplasia [RCV005002546] Chr20:10652553 [GRCh38]
Chr20:10633201 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.864G>T (p.Trp288Cys) single nucleotide variant Arteriohepatic dysplasia [RCV005002556] Chr20:10652490 [GRCh38]
Chr20:10633138 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.875T>A (p.Leu292His) single nucleotide variant Arteriohepatic dysplasia [RCV005002560] Chr20:10652479 [GRCh38]
Chr20:10633127 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.877T>C (p.Cys293Arg) single nucleotide variant Arteriohepatic dysplasia [RCV005002562] Chr20:10652477 [GRCh38]
Chr20:10633125 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.894T>A (p.Asn298Lys) single nucleotide variant Arteriohepatic dysplasia [RCV005002568] Chr20:10652243 [GRCh38]
Chr20:10632891 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.904A>C (p.Thr302Pro) single nucleotide variant Arteriohepatic dysplasia [RCV005002574] Chr20:10652233 [GRCh38]
Chr20:10632881 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.916T>G (p.Cys306Gly) single nucleotide variant Arteriohepatic dysplasia [RCV005002576] Chr20:10652221 [GRCh38]
Chr20:10632869 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.981G>C (p.Gly327=) single nucleotide variant Arteriohepatic dysplasia [RCV005002580] Chr20:10652156 [GRCh38]
Chr20:10632804 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.999T>G (p.Cys333Trp) single nucleotide variant Arteriohepatic dysplasia [RCV005002581] Chr20:10652138 [GRCh38]
Chr20:10632786 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.39C>G (p.Pro13=) single nucleotide variant Arteriohepatic dysplasia [RCV005002584] Chr20:10673492 [GRCh38]
Chr20:10654140 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.128A>C (p.Gln43Pro) single nucleotide variant Arteriohepatic dysplasia [RCV005002585] Chr20:10672960 [GRCh38]
Chr20:10653608 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.147G>C (p.Leu49=) single nucleotide variant Arteriohepatic dysplasia [RCV005002588] Chr20:10672941 [GRCh38]
Chr20:10653589 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.165C>G (p.Cys55Trp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005112528]|Arteriohepatic dysplasia [RCV005002592] Chr20:10672923 [GRCh38]
Chr20:10653571 [GRCh37]
Chr20:20p12.2		 uncertain significance|not provided
NM_000214.3(JAG1):c.230T>A (p.Val77Glu) single nucleotide variant Arteriohepatic dysplasia [RCV005002596] Chr20:10672858 [GRCh38]
Chr20:10653506 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.276C>G (p.Cys92Trp) single nucleotide variant Arteriohepatic dysplasia [RCV005002600] Chr20:10672812 [GRCh38]
Chr20:10653460 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.284G>T (p.Gly95Val) single nucleotide variant Arteriohepatic dysplasia [RCV005002606] Chr20:10672804 [GRCh38]
Chr20:10653452 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.283G>C (p.Gly95Arg) single nucleotide variant Arteriohepatic dysplasia [RCV005002608] Chr20:10672805 [GRCh38]
Chr20:10653453 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.302T>A (p.Val101Asp) single nucleotide variant Arteriohepatic dysplasia [RCV005002610] Chr20:10672786 [GRCh38]
Chr20:10653434 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.391T>A (p.Ser131Thr) single nucleotide variant Arteriohepatic dysplasia [RCV005002622] Chr20:10664011 [GRCh38]
Chr20:10644659 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.402G>T (p.Leu134Phe) single nucleotide variant Arteriohepatic dysplasia [RCV005002625] Chr20:10664000 [GRCh38]
Chr20:10644648 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.2123A>C (p.Gln708Pro) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002690829] Chr20:10645247 [GRCh38]
Chr20:10625895 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1921G>A (p.Gly641Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002923596]|Cardiovascular phenotype [RCV004067287] Chr20:10646049 [GRCh38]
Chr20:10626697 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1999+20G>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002914381] Chr20:10645951 [GRCh38]
Chr20:10626599 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.117C>A (p.Ile39=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002785850] Chr20:10672971 [GRCh38]
Chr20:10653619 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2575dup (p.Ser859fs) duplication Alagille syndrome due to a JAG1 point mutation [RCV002820560] Chr20:10641889..10641890 [GRCh38]
Chr20:10622537..10622538 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.82-5G>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002927363] Chr20:10673011 [GRCh38]
Chr20:10653659 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2505T>A (p.Cys835Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003003027] Chr20:10642555 [GRCh38]
Chr20:10623203 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.506C>T (p.Thr169Met) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002914086]|Alagille syndrome due to a JAG1 point mutation [RCV005034478]|Cardiovascular phenotype [RCV004066257]|JAG1-related disorder [RCV004548405] Chr20:10658656 [GRCh38]
Chr20:10639304 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.2926A>G (p.Thr976Ala) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003080662]|Cardiovascular phenotype [RCV003161835] Chr20:10641235 [GRCh38]
Chr20:10621883 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2329C>A (p.Pro777Thr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003021008] Chr20:10644878 [GRCh38]
Chr20:10625526 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2573-16_2573-7del deletion Alagille syndrome due to a JAG1 point mutation [RCV002914136] Chr20:10641899..10641908 [GRCh38]
Chr20:10622547..10622556 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2917-20G>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002636258] Chr20:10641264 [GRCh38]
Chr20:10621912 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.175C>T (p.Arg59Trp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003021081] Chr20:10672913 [GRCh38]
Chr20:10653561 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3031G>C (p.Glu1011Gln) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003039345] Chr20:10641130 [GRCh38]
Chr20:10621778 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2344+9C>G single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002871438] Chr20:10644854 [GRCh38]
Chr20:10625502 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.522G>C (p.Thr174=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002927299] Chr20:10658640 [GRCh38]
Chr20:10639288 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2916+10A>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002785967] Chr20:10641450 [GRCh38]
Chr20:10622098 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2113+16C>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002999719] Chr20:10645340 [GRCh38]
Chr20:10625988 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3505C>T (p.Arg1169Trp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002637777]|Cardiovascular phenotype [RCV004070795] Chr20:10639650 [GRCh38]
Chr20:10620298 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.1007-12del deletion Alagille syndrome due to a JAG1 point mutation [RCV002637972] Chr20:10651706 [GRCh38]
Chr20:10632354 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3399G>A (p.Thr1133=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003078912] Chr20:10639756 [GRCh38]
Chr20:10620404 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2866G>C (p.Asp956His) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002923926] Chr20:10641510 [GRCh38]
Chr20:10622158 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2372+13T>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002659499] Chr20:10644344 [GRCh38]
Chr20:10624992 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1998C>T (p.Thr666=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002591148] Chr20:10645972 [GRCh38]
Chr20:10626620 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2418C>T (p.Cys806=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002909625]|JAG1-related disorder [RCV004548404] Chr20:10643818 [GRCh38]
Chr20:10624466 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.26G>C (p.Arg9Pro) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003077275] Chr20:10673505 [GRCh38]
Chr20:10654153 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2972A>C (p.Asn991Thr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003054455] Chr20:10641189 [GRCh38]
Chr20:10621837 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.219A>G (p.Thr73=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002592384]|Cardiovascular phenotype [RCV004992521] Chr20:10672869 [GRCh38]
Chr20:10653517 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1720+15C>G single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002820750] Chr20:10647945 [GRCh38]
Chr20:10628593 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2097A>G (p.Gly699=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002796361] Chr20:10645372 [GRCh38]
Chr20:10626020 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.123del (p.Met42fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV002975954] Chr20:10672965 [GRCh38]
Chr20:10653613 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2415G>C (p.Arg805=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002886267]|JAG1-related disorder [RCV004548382] Chr20:10643821 [GRCh38]
Chr20:10624469 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1616A>G (p.Gln539Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002569763] Chr20:10648064 [GRCh38]
Chr20:10628712 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.887-20C>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002866879] Chr20:10652270 [GRCh38]
Chr20:10632918 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2415del (p.Cys806fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV002797000] Chr20:10643821 [GRCh38]
Chr20:10624469 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.171C>A (p.Gly57=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002620865] Chr20:10672917 [GRCh38]
Chr20:10653565 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.349del (p.Arg117fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV002979699] Chr20:10672739 [GRCh38]
Chr20:10653387 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1396-3T>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003020954] Chr20:10648725 [GRCh38]
Chr20:10629373 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.373A>G (p.Ser125Gly) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002637128] Chr20:10672715 [GRCh38]
Chr20:10653363 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2280G>T (p.Val760=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002923537]|Cardiovascular phenotype [RCV003170663] Chr20:10644927 [GRCh38]
Chr20:10625575 [GRCh37]
Chr20:20p12.2		 benign|likely benign
NM_000214.3(JAG1):c.3009G>A (p.Glu1003=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002636517] Chr20:10641152 [GRCh38]
Chr20:10621800 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1269C>A (p.Asn423Lys) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002800044] Chr20:10649601 [GRCh38]
Chr20:10630249 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1721-19T>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002639564] Chr20:10647122 [GRCh38]
Chr20:10627770 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2345-13C>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003080607] Chr20:10644397 [GRCh38]
Chr20:10625045 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.779T>C (p.Leu260Pro) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002622569] Chr20:10652575 [GRCh38]
Chr20:10633223 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2078G>C (p.Cys693Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003020206] Chr20:10645391 [GRCh38]
Chr20:10626039 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2198G>C (p.Gly733Ala) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002927451]|JAG1-related disorder [RCV004741345] Chr20:10645172 [GRCh38]
Chr20:10625820 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.1153C>T (p.His385Tyr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002913842] Chr20:10650328 [GRCh38]
Chr20:10630976 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3001G>T (p.Ala1001Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002999542] Chr20:10641160 [GRCh38]
Chr20:10621808 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2682+18_2682+31del deletion Alagille syndrome due to a JAG1 point mutation [RCV002711817] Chr20:10641752..10641765 [GRCh38]
Chr20:10622400..10622413 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1119A>G (p.Thr373=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003058586] Chr20:10651582 [GRCh38]
Chr20:10632230 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1764T>G (p.Pro588=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002663392] Chr20:10647060 [GRCh38]
Chr20:10627708 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2114-2A>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002894532] Chr20:10645258 [GRCh38]
Chr20:10625906 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.2572+1G>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003006307] Chr20:10642487 [GRCh38]
Chr20:10623135 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1569+12C>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002710063] Chr20:10648537 [GRCh38]
Chr20:10629185 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2683-17C>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002895152] Chr20:10641710 [GRCh38]
Chr20:10622358 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.630T>C (p.Tyr210=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002876555] Chr20:10658532 [GRCh38]
Chr20:10639180 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.415T>G (p.Trp139Gly) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002852850]|Arteriohepatic dysplasia [RCV005002180] Chr20:10663987 [GRCh38]
Chr20:10644635 [GRCh37]
Chr20:20p12.2		 pathogenic|not provided
NM_000214.3(JAG1):c.1570-17G>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003041353] Chr20:10648127 [GRCh38]
Chr20:10628775 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.920T>C (p.Leu307Pro) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002890571] Chr20:10652217 [GRCh38]
Chr20:10632865 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1131C>A (p.Asp377Glu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003039808]|not provided [RCV004779410] Chr20:10650350 [GRCh38]
Chr20:10630998 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1566T>A (p.Cys522Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002851779] Chr20:10648552 [GRCh38]
Chr20:10629200 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.891C>T (p.Leu297=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002700043] Chr20:10652246 [GRCh38]
Chr20:10632894 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3644A>C (p.Glu1215Ala) single nucleotide variant Cardiovascular phenotype [RCV004175889] Chr20:10639511 [GRCh38]
Chr20:10620159 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1721-17C>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002890730] Chr20:10647120 [GRCh38]
Chr20:10627768 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1396-5dup duplication Alagille syndrome due to a JAG1 point mutation [RCV003055944] Chr20:10648726..10648727 [GRCh38]
Chr20:10629374..10629375 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.52C>A (p.Leu18Ile) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002663541]|Alagille syndrome due to a JAG1 point mutation [RCV005025947] Chr20:10673479 [GRCh38]
Chr20:10654127 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.941del (p.Asn314fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV002957348] Chr20:10652196 [GRCh38]
Chr20:10632844 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2274_2275del (p.Val760fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV002851766] Chr20:10644932..10644933 [GRCh38]
Chr20:10625580..10625581 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3255G>C (p.Leu1085Phe) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003059326] Chr20:10639900 [GRCh38]
Chr20:10620548 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.756-16T>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002573634] Chr20:10652614 [GRCh38]
Chr20:10633262 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1052del (p.Cys351fs) deletion Deafness [RCV004798960] Chr20:10651649 [GRCh38]
Chr20:10632297 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2344+16C>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002958858] Chr20:10644847 [GRCh38]
Chr20:10625495 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2254C>G (p.Pro752Ala) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002574862] Chr20:10644953 [GRCh38]
Chr20:10625601 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.715dup (p.Ser239fs) duplication Alagille syndrome due to a JAG1 point mutation [RCV003041382] Chr20:10656437..10656438 [GRCh38]
Chr20:10637085..10637086 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.659G>T (p.Cys220Phe) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003041383]|Arteriohepatic dysplasia [RCV005002182] Chr20:10658503 [GRCh38]
Chr20:10639151 [GRCh37]
Chr20:20p12.2		 pathogenic|not provided
NM_000214.3(JAG1):c.795C>A (p.Cys265Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002828571] Chr20:10652559 [GRCh38]
Chr20:10633207 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2345-14T>G single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003084074] Chr20:10644398 [GRCh38]
Chr20:10625046 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3456C>T (p.His1152=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003084676] Chr20:10639699 [GRCh38]
Chr20:10620347 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3317C>G (p.Ala1106Gly) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002786436] Chr20:10639838 [GRCh38]
Chr20:10620486 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2916+16T>G single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002872155] Chr20:10641444 [GRCh38]
Chr20:10622092 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3620G>A (p.Ser1207Asn) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002890498]|JAG1-related disorder [RCV004548381] Chr20:10639535 [GRCh38]
Chr20:10620183 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3178C>T (p.Arg1060Trp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002890513]|Cardiovascular phenotype [RCV004065976] Chr20:10640804 [GRCh38]
Chr20:10621452 [GRCh37]
Chr20:20p12.2		 benign|uncertain significance
NM_000214.3(JAG1):c.1263T>C (p.Cys421=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002872289] Chr20:10649607 [GRCh38]
Chr20:10630255 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.2572+9G>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003007915] Chr20:10642479 [GRCh38]
Chr20:10623127 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1886-18C>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002786355] Chr20:10646102 [GRCh38]
Chr20:10626750 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.933T>C (p.Thr311=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003084666] Chr20:10652204 [GRCh38]
Chr20:10632852 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1396-9C>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002958599] Chr20:10648731 [GRCh38]
Chr20:10629379 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1120+18C>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002575052] Chr20:10651563 [GRCh38]
Chr20:10632211 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3481A>G (p.Met1161Val) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002700543] Chr20:10639674 [GRCh38]
Chr20:10620322 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1121-14T>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002895350] Chr20:10650374 [GRCh38]
Chr20:10631022 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2572+1G>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003064602] Chr20:10642487 [GRCh38]
Chr20:10623135 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3183T>G (p.Pro1061=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002579911] Chr20:10640799 [GRCh38]
Chr20:10621447 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.552C>T (p.Arg184=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002967180]|Cardiovascular phenotype [RCV003170754] Chr20:10658610 [GRCh38]
Chr20:10639258 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3197dup (p.Asp1067fs) duplication Alagille syndrome due to a JAG1 point mutation [RCV003064601] Chr20:10640784..10640785 [GRCh38]
Chr20:10621432..10621433 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3132A>C (p.Gly1044=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003064826]|Cardiovascular phenotype [RCV004632165] Chr20:10640850 [GRCh38]
Chr20:10621498 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1822C>T (p.Gln608Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002601847] Chr20:10647002 [GRCh38]
Chr20:10627650 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2716A>C (p.Lys906Gln) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002938675] Chr20:10641660 [GRCh38]
Chr20:10622308 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1205C>A (p.Pro402Gln) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002629405] Chr20:10650276 [GRCh38]
Chr20:10630924 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2699G>A (p.Arg900Gln) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002630260] Chr20:10641677 [GRCh38]
Chr20:10622325 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.2920C>G (p.Leu974Val) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002937667]|Cardiovascular phenotype [RCV004066976] Chr20:10641241 [GRCh38]
Chr20:10621889 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.815T>A (p.Val272Asp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002632890] Chr20:10652539 [GRCh38]
Chr20:10633187 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3408C>A (p.Ile1136=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002856288] Chr20:10639747 [GRCh38]
Chr20:10620395 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1782T>C (p.Ile594=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002812063] Chr20:10647042 [GRCh38]
Chr20:10627690 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1302C>T (p.Tyr434=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002877499] Chr20:10649568 [GRCh38]
Chr20:10630216 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3476A>T (p.Asp1159Val) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003089538]|not specified [RCV004700944] Chr20:10639679 [GRCh38]
Chr20:10620327 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1806C>G (p.His602Gln) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003043907] Chr20:10647018 [GRCh38]
Chr20:10627666 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1657del (p.Glu553fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV002833054] Chr20:10648023 [GRCh38]
Chr20:10628671 [GRCh37]
Chr20:20p12.2		 pathogenic|likely pathogenic
NM_000214.3(JAG1):c.2394G>A (p.Val798=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002630021]|Cardiovascular phenotype [RCV004634207] Chr20:10643842 [GRCh38]
Chr20:10624490 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1764dup (p.Glu589Ter) duplication Alagille syndrome due to a JAG1 point mutation [RCV002937864] Chr20:10647059..10647060 [GRCh38]
Chr20:10627707..10627708 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2174A>G (p.Asp725Gly) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002791637] Chr20:10645196 [GRCh38]
Chr20:10625844 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3261G>A (p.Thr1087=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002937244] Chr20:10639894 [GRCh38]
Chr20:10620542 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1461C>T (p.Asp487=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003062856] Chr20:10648657 [GRCh38]
Chr20:10629305 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1845T>C (p.Cys615=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003060011]|JAG1-related disorder [RCV004550357] Chr20:10646979 [GRCh38]
Chr20:10627627 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2916+17_2916+20del deletion Alagille syndrome due to a JAG1 point mutation [RCV003029461] Chr20:10641440..10641443 [GRCh38]
Chr20:10622088..10622091 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2295C>G (p.Ser765=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002832855] Chr20:10644912 [GRCh38]
Chr20:10625560 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2188A>G (p.Met730Val) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002746257] Chr20:10645182 [GRCh38]
Chr20:10625830 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.260C>G (p.Thr87Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002899650]|Arteriohepatic dysplasia [RCV005002181] Chr20:10672828 [GRCh38]
Chr20:10653476 [GRCh37]
Chr20:20p12.2		 uncertain significance|not provided
NM_000214.3(JAG1):c.850T>C (p.Cys284Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002900578] Chr20:10652504 [GRCh38]
Chr20:10633152 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1721-18C>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002714888] Chr20:10647121 [GRCh38]
Chr20:10627769 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1517T>G (p.Ile506Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002811032] Chr20:10648601 [GRCh38]
Chr20:10629249 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2790C>T (p.Cys930=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003060115] Chr20:10641586 [GRCh38]
Chr20:10622234 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3243G>A (p.Trp1081Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002806333] Chr20:10639912 [GRCh38]
Chr20:10620560 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.262G>T (p.Ala88Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002937728] Chr20:10672826 [GRCh38]
Chr20:10653474 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.216C>T (p.Asp72=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002857806] Chr20:10672872 [GRCh38]
Chr20:10653520 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1886-4A>G single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002597601] Chr20:10646088 [GRCh38]
Chr20:10626736 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2884A>G (p.Thr962Ala) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002962070]|Alagille syndrome due to a JAG1 point mutation [RCV005028068] Chr20:10641492 [GRCh38]
Chr20:10622140 [GRCh37]
Chr20:20p12.2		 benign|uncertain significance
NM_000214.3(JAG1):c.887-16A>G single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003027247] Chr20:10652266 [GRCh38]
Chr20:10632914 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1188dup (p.Lys397Ter) duplication Alagille syndrome due to a JAG1 point mutation [RCV002856587] Chr20:10650292..10650293 [GRCh38]
Chr20:10630940..10630941 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.927G>A (p.Gly309=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003048009] Chr20:10652210 [GRCh38]
Chr20:10632858 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2114-4C>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002810464] Chr20:10645260 [GRCh38]
Chr20:10625908 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.443del (p.Pro148fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV003030360] Chr20:10658719 [GRCh38]
Chr20:10639367 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2247G>C (p.Leu749=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002578055] Chr20:10644960 [GRCh38]
Chr20:10625608 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.838T>G (p.Trp280Gly) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003029577] Chr20:10652516 [GRCh38]
Chr20:10633164 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.332C>T (p.Ala111Val) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003065773]|Cardiovascular phenotype [RCV004071643] Chr20:10672756 [GRCh38]
Chr20:10653404 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3535G>A (p.Val1179Ile) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003044520] Chr20:10639620 [GRCh38]
Chr20:10620268 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1886-9G>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002899799] Chr20:10646093 [GRCh38]
Chr20:10626741 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2459-12C>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003090529] Chr20:10642613 [GRCh38]
Chr20:10623261 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1277C>T (p.Ser426Phe) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003091497] Chr20:10649593 [GRCh38]
Chr20:10630241 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.661A>G (p.Met221Val) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003048454] Chr20:10658501 [GRCh38]
Chr20:10639149 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.245A>G (p.Tyr82Cys) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002834366] Chr20:10672843 [GRCh38]
Chr20:10653491 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2344+15C>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002962936] Chr20:10644848 [GRCh38]
Chr20:10625496 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3331A>G (p.Thr1111Ala) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003064119] Chr20:10639824 [GRCh38]
Chr20:10620472 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1606A>C (p.Asn536His) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002876899] Chr20:10648074 [GRCh38]
Chr20:10628722 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.310G>A (p.Gly104Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003044315] Chr20:10672778 [GRCh38]
Chr20:10653426 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2904G>C (p.Glu968Asp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002653386]|Cardiovascular phenotype [RCV004066677] Chr20:10641472 [GRCh38]
Chr20:10622120 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1414C>T (p.Arg472Cys) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003068206]|Cardiovascular phenotype [RCV004070323] Chr20:10648704 [GRCh38]
Chr20:10629352 [GRCh37]
Chr20:20p12.2		 benign|uncertain significance
NM_000214.3(JAG1):c.439+11C>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003093288] Chr20:10663952 [GRCh38]
Chr20:10644600 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.755+13G>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002652951] Chr20:10656385 [GRCh38]
Chr20:10637033 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.866G>A (p.Gly289Asp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003050293] Chr20:10652488 [GRCh38]
Chr20:10633136 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3099C>G (p.Asp1033Glu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002658332] Chr20:10640883 [GRCh38]
Chr20:10621531 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.82-9C>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003068129] Chr20:10673015 [GRCh38]
Chr20:10653663 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.677G>A (p.Gly226Asp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003067202] Chr20:10658485 [GRCh38]
Chr20:10639133 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2217C>T (p.Thr739=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003069380] Chr20:10645153 [GRCh38]
Chr20:10625801 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2372+7G>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002606362] Chr20:10644350 [GRCh38]
Chr20:10624998 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2581A>G (p.Arg861Gly) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002654860] Chr20:10641884 [GRCh38]
Chr20:10622532 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.3302G>A (p.Ser1101Asn) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002585054]|Cardiovascular phenotype [RCV003161859]|JAG1-related disorder [RCV004550408] Chr20:10639853 [GRCh38]
Chr20:10620501 [GRCh37]
Chr20:20p12.2		 benign|uncertain significance
NM_000214.3(JAG1):c.2228-13T>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002609901] Chr20:10644992 [GRCh38]
Chr20:10625640 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1189A>T (p.Lys397Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003050552] Chr20:10650292 [GRCh38]
Chr20:10630940 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1579G>A (p.Asp527Asn) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003093410]|Cardiovascular phenotype [RCV004071849] Chr20:10648101 [GRCh38]
Chr20:10628749 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1083G>T (p.Glu361Asp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002676801] Chr20:10651618 [GRCh38]
Chr20:10632266 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1570-3C>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003092579] Chr20:10648113 [GRCh38]
Chr20:10628761 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3569C>T (p.Pro1190Leu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003509774]|Cardiovascular phenotype [RCV004224621] Chr20:10639586 [GRCh38]
Chr20:10620234 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.3577C>T (p.His1193Tyr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002943694]|Alagille syndrome due to a JAG1 point mutation [RCV005028063] Chr20:10639578 [GRCh38]
Chr20:10620226 [GRCh37]
Chr20:20p12.2		 benign|uncertain significance
NM_000214.3(JAG1):c.3313T>A (p.Ser1105Thr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002613310]|Alagille syndrome due to a JAG1 point mutation [RCV005025897] Chr20:10639842 [GRCh38]
Chr20:10620490 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.151A>G (p.Asn51Asp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002633802] Chr20:10672937 [GRCh38]
Chr20:10653585 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1092A>G (p.Pro364=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003093060]|Cardiovascular phenotype [RCV004992502] Chr20:10651609 [GRCh38]
Chr20:10632257 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3410A>G (p.Lys1137Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002654669]|Cardiovascular phenotype [RCV004992547]|JAG1-related disorder [RCV004550446] Chr20:10639745 [GRCh38]
Chr20:10620393 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.2161T>A (p.Tyr721Asn) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002611818] Chr20:10645209 [GRCh38]
Chr20:10625857 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.927G>T (p.Gly309=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002611826] Chr20:10652210 [GRCh38]
Chr20:10632858 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2916+18T>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002612093] Chr20:10641442 [GRCh38]
Chr20:10622090 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.52C>T (p.Leu18Phe) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003072832]|Alagille syndrome due to a JAG1 point mutation [RCV005028205] Chr20:10673479 [GRCh38]
Chr20:10654127 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1999+17_1999+18del deletion Alagille syndrome due to a JAG1 point mutation [RCV003070975] Chr20:10645953..10645954 [GRCh38]
Chr20:10626601..10626602 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1320C>T (p.Pro440=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV002612562]|JAG1-related disorder [RCV004741417] Chr20:10649550 [GRCh38]
Chr20:10630198 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.827G>C (p.Cys276Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002194]|not provided [RCV004795141] Chr20:10652527 [GRCh38]
Chr20:10633175 [GRCh37]
Chr20:20p12.2		 uncertain significance|not provided
NM_000214.3(JAG1):c.142G>A (p.Glu48Lys) single nucleotide variant Cardiovascular phenotype [RCV003278244] Chr20:10672946 [GRCh38]
Chr20:10653594 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3557C>A (p.Pro1186His) single nucleotide variant not provided [RCV004779756] Chr20:10639598 [GRCh38]
Chr20:10620246 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3135C>A (p.Asn1045Lys) single nucleotide variant not provided [RCV004781493] Chr20:10640847 [GRCh38]
Chr20:10621495 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2472C>A (p.Cys824Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV004795575] Chr20:10642588 [GRCh38]
Chr20:10623236 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2511T>G (p.Asp837Glu) single nucleotide variant Cardiovascular phenotype [RCV004316898] Chr20:10642549 [GRCh38]
Chr20:10623197 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.755G>A (p.Arg252Lys) single nucleotide variant not provided [RCV003133768] Chr20:10656398 [GRCh38]
Chr20:10637046 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2300C>A (p.Thr767Lys) single nucleotide variant Cardiovascular phenotype [RCV003177416] Chr20:10644907 [GRCh38]
Chr20:10625555 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.40C>T (p.Leu14=) single nucleotide variant Cardiovascular phenotype [RCV003177417] Chr20:10673491 [GRCh38]
Chr20:10654139 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3284A>G (p.Lys1095Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003509783]|Cardiovascular phenotype [RCV003177418] Chr20:10639871 [GRCh38]
Chr20:10620519 [GRCh37]
Chr20:20p12.2		 likely benign|uncertain significance
NM_000214.3(JAG1):c.3617A>T (p.Glu1206Val) single nucleotide variant Cardiovascular phenotype [RCV003177419] Chr20:10639538 [GRCh38]
Chr20:10620186 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3222C>T (p.Ser1074=) single nucleotide variant Cardiovascular phenotype [RCV003177420] Chr20:10639933 [GRCh38]
Chr20:10620581 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1338T>C (p.Asn446=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005101138]|Cardiovascular phenotype [RCV003177421] Chr20:10649532 [GRCh38]
Chr20:10630180 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.837C>A (p.Pro279=) single nucleotide variant Cardiovascular phenotype [RCV003177423] Chr20:10652517 [GRCh38]
Chr20:10633165 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1392T>C (p.Cys464=) single nucleotide variant Cardiovascular phenotype [RCV003177424] Chr20:10649064 [GRCh38]
Chr20:10629712 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.571T>C (p.Tyr191His) single nucleotide variant not provided [RCV003219007] Chr20:10658591 [GRCh38]
Chr20:10639239 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.18G>C (p.Thr6=) single nucleotide variant not provided [RCV003133769] Chr20:10673513 [GRCh38]
Chr20:10654161 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.463G>C (p.Ala155Pro) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003140558]|Arteriohepatic dysplasia [RCV005002183] Chr20:10658699 [GRCh38]
Chr20:10639347 [GRCh37]
Chr20:20p12.2		 likely pathogenic|conflicting interpretations of pathogenicity|not provided
t(4;20)(q22.1;p12.2) translocation Alagille syndrome due to a JAG1 point mutation [RCV003164482] Chr20:10671494..10671496 [GRCh38]
Chr4:88813299..88813301 [GRCh38]
Chr20:20p12.2
Chr4:4q22.1		 pathogenic
NM_000214.3(JAG1):c.387+1G>T single nucleotide variant not provided [RCV003159584] Chr20:10672700 [GRCh38]
Chr20:10653348 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.2625del (p.Lys875fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV003319945] Chr20:10641840 [GRCh38]
Chr20:10622488 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.1872A>T (p.Thr624=) single nucleotide variant Cardiovascular phenotype [RCV003310408] Chr20:10646952 [GRCh38]
Chr20:10627600 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1269C>T (p.Asn423=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003509796]|Cardiovascular phenotype [RCV003310409] Chr20:10649601 [GRCh38]
Chr20:10630249 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1482C>T (p.Asn494=) single nucleotide variant Cardiovascular phenotype [RCV003310410] Chr20:10648636 [GRCh38]
Chr20:10629284 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3230T>G (p.Leu1077Ter) single nucleotide variant not provided [RCV003322185] Chr20:10639925 [GRCh38]
Chr20:10620573 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.694+80A>G single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003330210] Chr20:10658388 [GRCh38]
Chr20:10639036 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1473_1474del (p.Ala492fs) microsatellite not provided [RCV003325715] Chr20:10648644..10648645 [GRCh38]
Chr20:10629292..10629293 [GRCh37]
Chr20:20p12.2		 pathogenic
GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3 copy number gain Renal agenesis [RCV003327640] Chr20:87153..23635465 [GRCh38]
Chr20:20p13-11.21		 pathogenic
NM_000214.3(JAG1):c.3003_3006dup (p.Glu1003fs) duplication Alagille syndrome due to a JAG1 point mutation [RCV003337743] Chr20:10641154..10641155 [GRCh38]
Chr20:10621802..10621803 [GRCh37]
Chr20:20p12.2		 pathogenic|likely pathogenic
NM_000214.3(JAG1):c.2406del (p.Trp803fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV003327324] Chr20:10643830 [GRCh38]
Chr20:10624478 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.388-18_388-17insCAGAG insertion Alagille syndrome due to a JAG1 point mutation [RCV003852890] Chr20:10664031..10664032 [GRCh38]
Chr20:10644679..10644680 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.559T>C (p.Cys187Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003340892] Chr20:10658603 [GRCh38]
Chr20:10639251 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.514C>T (p.Gln172Ter) single nucleotide variant JAG1-related disorder [RCV003335979] Chr20:10658648 [GRCh38]
Chr20:10639296 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3325G>A (p.Asp1109Asn) single nucleotide variant Cardiovascular phenotype [RCV004351316] Chr20:10639830 [GRCh38]
Chr20:10620478 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.38C>A (p.Pro13His) single nucleotide variant Cardiovascular phenotype [RCV003360704] Chr20:10673493 [GRCh38]
Chr20:10654141 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.303C>G (p.Val101=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005104018]|Cardiovascular phenotype [RCV003360705] Chr20:10672785 [GRCh38]
Chr20:10653433 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.775G>A (p.Gly259Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005029989]|Cardiovascular phenotype [RCV003360708] Chr20:10652579 [GRCh38]
Chr20:10633227 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3510T>G (p.Phe1170Leu) single nucleotide variant Cardiovascular phenotype [RCV003360706] Chr20:10639645 [GRCh38]
Chr20:10620293 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1251G>A (p.Glu417=) single nucleotide variant Cardiovascular phenotype [RCV003360707] Chr20:10649619 [GRCh38]
Chr20:10630267 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2136C>T (p.Ala712=) single nucleotide variant Cardiovascular phenotype [RCV003360709] Chr20:10645234 [GRCh38]
Chr20:10625882 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.864G>A (p.Trp288Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003333389] Chr20:10652490 [GRCh38]
Chr20:10633138 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.3061A>C (p.Ile1021Leu) single nucleotide variant Cardiovascular phenotype [RCV004361155] Chr20:10640921 [GRCh38]
Chr20:10621569 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.756-83_780del deletion JAG1-related disorder [RCV004552591] Chr20:10652574..10652681 [GRCh38]
Chr20:10633222..10633329 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.2136C>A (p.Ala712=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005104212]|Cardiovascular phenotype [RCV003387066] Chr20:10645234 [GRCh38]
Chr20:10625882 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.359T>C (p.Ile120Thr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003333676]|Arteriohepatic dysplasia [RCV005002185] Chr20:10672729 [GRCh38]
Chr20:10653377 [GRCh37]
Chr20:20p12.2		 pathogenic|not provided
NM_000214.3(JAG1):c.3083T>C (p.Ile1028Thr) single nucleotide variant Cardiovascular phenotype [RCV003377592] Chr20:10640899 [GRCh38]
Chr20:10621547 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2446G>A (p.Asp816Asn) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003619841]|Cardiovascular phenotype [RCV003377593] Chr20:10643790 [GRCh38]
Chr20:10624438 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1202C>T (p.Pro401Leu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003881376] Chr20:10650279 [GRCh38]
Chr20:10630927 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1946A>G (p.Asn649Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003511182] Chr20:10646024 [GRCh38]
Chr20:10626672 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.439+16G>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003511218] Chr20:10663947 [GRCh38]
Chr20:10644595 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.288A>G (p.Ser96=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003874107]|Cardiovascular phenotype [RCV004992929] Chr20:10672800 [GRCh38]
Chr20:10653448 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.887-17C>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003825624] Chr20:10652267 [GRCh38]
Chr20:10632915 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1079G>T (p.Cys360Phe) single nucleotide variant JAG1-related disorder [RCV004554178] Chr20:10651622 [GRCh38]
Chr20:10632270 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3564C>T (p.Gly1188=) single nucleotide variant not provided [RCV003440344] Chr20:10639591 [GRCh38]
Chr20:10620239 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1499dup (p.His501fs) duplication not provided [RCV003480453] Chr20:10648618..10648619 [GRCh38]
Chr20:10629266..10629267 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.3186dup (p.Lys1063fs) duplication JAG1-related disorder [RCV004550741] Chr20:10640795..10640796 [GRCh38]
Chr20:10621443..10621444 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.1234+3A>G single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003511287] Chr20:10650244 [GRCh38]
Chr20:10630892 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2270del (p.Gly757fs) deletion JAG1-related disorder [RCV004552467] Chr20:10644937 [GRCh38]
Chr20:10625585 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.2690_2694dup (p.Pro899fs) duplication JAG1-related disorder [RCV004554180] Chr20:10641681..10641682 [GRCh38]
Chr20:10622329..10622330 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1000G>A (p.Glu334Lys) single nucleotide variant not provided [RCV003442504] Chr20:10652137 [GRCh38]
Chr20:10632785 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1801C>T (p.Pro601Ser) single nucleotide variant JAG1-related disorder [RCV004548635] Chr20:10647023 [GRCh38]
Chr20:10627671 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1459_1460del (p.Asp487fs) microsatellite JAG1-related disorder [RCV004554113] Chr20:10648658..10648659 [GRCh38]
Chr20:10629306..10629307 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1871delinsGA (p.Thr624fs) indel JAG1-related disorder [RCV004548632] Chr20:10646953 [GRCh38]
Chr20:10627601 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.3456C>G (p.His1152Gln) single nucleotide variant JAG1-related disorder [RCV004552530] Chr20:10639699 [GRCh38]
Chr20:10620347 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.851G>A (p.Cys284Tyr) single nucleotide variant Arteriohepatic dysplasia [RCV005002186]|JAG1-related disorder [RCV004554125] Chr20:10652503 [GRCh38]
Chr20:10633151 [GRCh37]
Chr20:20p12.2		 uncertain significance|not provided
NM_000214.3(JAG1):c.3153del (p.Val1052fs) deletion JAG1-related disorder [RCV004554175] Chr20:10640829 [GRCh38]
Chr20:10621477 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.1264G>A (p.Val422Ile) single nucleotide variant not provided [RCV003442268] Chr20:10649606 [GRCh38]
Chr20:10630254 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3590C>A (p.Thr1197Lys) single nucleotide variant JAG1-related disorder [RCV004550699] Chr20:10639565 [GRCh38]
Chr20:10620213 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.67G>A (p.Ala23Thr) single nucleotide variant JAG1-related disorder [RCV004550602] Chr20:10673464 [GRCh38]
Chr20:10654112 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1370A>G (p.Gln457Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003619843]|JAG1-related disorder [RCV004548654] Chr20:10649086 [GRCh38]
Chr20:10629734 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2300C>G (p.Thr767Arg) single nucleotide variant JAG1-related disorder [RCV004550726] Chr20:10644907 [GRCh38]
Chr20:10625555 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2447A>T (p.Asp816Val) single nucleotide variant JAG1-related disorder [RCV004550570] Chr20:10643789 [GRCh38]
Chr20:10624437 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.172dup (p.Ala58fs) duplication JAG1-related disorder [RCV004550772] Chr20:10672915..10672916 [GRCh38]
Chr20:10653563..10653564 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.1138_1140del (p.Pro380del) deletion not provided [RCV003443566] Chr20:10650341..10650343 [GRCh38]
Chr20:10630989..10630991 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.596del (p.Phe199fs) deletion JAG1-related disorder [RCV004554155] Chr20:10658566 [GRCh38]
Chr20:10639214 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.2539C>A (p.Pro847Thr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003510021] Chr20:10642521 [GRCh38]
Chr20:10623169 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2228-6T>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003876316] Chr20:10644985 [GRCh38]
Chr20:10625633 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2372+15C>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003511343] Chr20:10644342 [GRCh38]
Chr20:10624990 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1739T>A (p.Val580Glu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003508999] Chr20:10647085 [GRCh38]
Chr20:10627733 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1603C>T (p.Gln535Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003509032] Chr20:10648077 [GRCh38]
Chr20:10628725 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.387+1G>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003509034] Chr20:10672700 [GRCh38]
Chr20:10653348 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.712T>C (p.Cys238Arg) single nucleotide variant not provided [RCV003494249] Chr20:10656441 [GRCh38]
Chr20:10637089 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.2344A>G (p.Asn782Asp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003510822]|Alagille syndrome due to a JAG1 point mutation [RCV005030083]|Retinal dystrophy [RCV004818366] Chr20:10644863 [GRCh38]
Chr20:10625511 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2595dup (p.Met866fs) duplication Alagille syndrome due to a JAG1 point mutation [RCV003510842]|JAG1-related disorder [RCV004723359] Chr20:10641869..10641870 [GRCh38]
Chr20:10622517..10622518 [GRCh37]
Chr20:20p12.2		 pathogenic|likely pathogenic
NM_000214.3(JAG1):c.2026del (p.Cys676fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV003493998]   pathogenic
NM_000214.3(JAG1):c.2458+16G>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003510993] Chr20:10643762 [GRCh38]
Chr20:10624410 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1006+16T>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003509906] Chr20:10652115 [GRCh38]
Chr20:10632763 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2458+2_2458+4del deletion Alagille syndrome due to a JAG1 point mutation [RCV003494000]   pathogenic
NM_000214.3(JAG1):c.2618G>C (p.Gly873Ala) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003510024] Chr20:10641847 [GRCh38]
Chr20:10622495 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.694+18C>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003510735] Chr20:10658450 [GRCh38]
Chr20:10639098 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3057dup (p.Asp1020fs) duplication Alagille syndrome due to a JAG1 point mutation [RCV003509405] Chr20:10640924..10640925 [GRCh38]
Chr20:10621572..10621573 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1596T>C (p.Asn532=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003510273] Chr20:10648084 [GRCh38]
Chr20:10628732 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1570-7T>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003509452] Chr20:10648117 [GRCh38]
Chr20:10628765 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.590A>C (p.Asn197Thr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003510351] Chr20:10658572 [GRCh38]
Chr20:10639220 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.388-8del deletion Alagille syndrome due to a JAG1 point mutation [RCV003510984] Chr20:10664022 [GRCh38]
Chr20:10644670 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1160G>A (p.Gly387Asp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003510412] Chr20:10650321 [GRCh38]
Chr20:10630969 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3377T>C (p.Ile1126Thr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003511111] Chr20:10639778 [GRCh38]
Chr20:10620426 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.980G>C (p.Gly327Ala) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003509912] Chr20:10652157 [GRCh38]
Chr20:10632805 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1693G>A (p.Asp565Asn) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003510481] Chr20:10647987 [GRCh38]
Chr20:10628635 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1827G>T (p.Ser609=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003509479] Chr20:10646997 [GRCh38]
Chr20:10627645 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1579G>T (p.Asp527Tyr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003510407] Chr20:10648101 [GRCh38]
Chr20:10628749 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2803G>A (p.Glu935Lys) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003511037]|JAG1-related disorder [RCV004554250] Chr20:10641573 [GRCh38]
Chr20:10622221 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1785C>T (p.Ser595=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003875854] Chr20:10647039 [GRCh38]
Chr20:10627687 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1963T>C (p.Cys655Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003510482] Chr20:10646007 [GRCh38]
Chr20:10626655 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2529G>T (p.Arg843=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003511119]|Cardiovascular phenotype [RCV004369168] Chr20:10642531 [GRCh38]
Chr20:10623179 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1059G>C (p.Glu353Asp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003511317] Chr20:10651642 [GRCh38]
Chr20:10632290 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1426C>A (p.Pro476Thr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003509033] Chr20:10648692 [GRCh38]
Chr20:10629340 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.793T>G (p.Cys265Gly) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003509977]|Arteriohepatic dysplasia [RCV005002187] Chr20:10652561 [GRCh38]
Chr20:10633209 [GRCh37]
Chr20:20p12.2		 uncertain significance|not provided
NM_000214.3(JAG1):c.1657G>A (p.Glu553Lys) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003510627]|Alagille syndrome due to a JAG1 point mutation [RCV005036846] Chr20:10648023 [GRCh38]
Chr20:10628671 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1754_1755del (p.Asn585fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV003493997]   likely pathogenic
NM_000214.3(JAG1):c.2899_2901del (p.Lys967del) deletion Alagille syndrome due to a JAG1 point mutation [RCV003510113] Chr20:10641475..10641477 [GRCh38]
Chr20:10622123..10622125 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2700A>G (p.Arg900=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003510779] Chr20:10641676 [GRCh38]
Chr20:10622324 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2341C>T (p.Gln781Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003510208] Chr20:10644866 [GRCh38]
Chr20:10625514 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2344+7G>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003510859] Chr20:10644856 [GRCh38]
Chr20:10625504 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.644A>G (p.Asn215Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003510887] Chr20:10658518 [GRCh38]
Chr20:10639166 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3530C>G (p.Thr1177Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003510087] Chr20:10639625 [GRCh38]
Chr20:10620273 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.753C>A (p.Cys251Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003493999]   pathogenic
NM_000214.3(JAG1):c.2620G>A (p.Ala874Thr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003879142] Chr20:10641845 [GRCh38]
Chr20:10622493 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.2807G>C (p.Cys936Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003510140] Chr20:10641569 [GRCh38]
Chr20:10622217 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1951T>C (p.Tyr651His) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003510255] Chr20:10646019 [GRCh38]
Chr20:10626667 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2999dup (p.Ala1001fs) duplication Alagille syndrome due to a JAG1 point mutation [RCV003510922]|Alagille syndrome due to a JAG1 point mutation [RCV005036859]|JAG1-related disorder [RCV004554248] Chr20:10641161..10641162 [GRCh38]
Chr20:10621809..10621810 [GRCh37]
Chr20:20p12.2		 pathogenic|likely pathogenic
NM_000214.3(JAG1):c.3074_3075delinsAA (p.Gly1025Glu) indel Alagille syndrome due to a JAG1 point mutation [RCV003511377]|Cardiovascular phenotype [RCV004992649] Chr20:10640907..10640908 [GRCh38]
Chr20:10621555..10621556 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3604A>G (p.Asn1202Asp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003510953] Chr20:10639551 [GRCh38]
Chr20:10620199 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.107del (p.Glu36fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV003509211] Chr20:10672981 [GRCh38]
Chr20:10653629 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1064C>A (p.Ser355Tyr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003510999] Chr20:10651637 [GRCh38]
Chr20:10632285 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2683-1G>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003510425] Chr20:10641694 [GRCh38]
Chr20:10622342 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.174C>G (p.Ala58=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003509424] Chr20:10672914 [GRCh38]
Chr20:10653562 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.81+8C>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003511064] Chr20:10673442 [GRCh38]
Chr20:10654090 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.82-16C>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003511069] Chr20:10673022 [GRCh38]
Chr20:10653670 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2388C>T (p.Thr796=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003510657] Chr20:10643848 [GRCh38]
Chr20:10624496 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1737A>G (p.Thr579=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003511099] Chr20:10647087 [GRCh38]
Chr20:10627735 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2113del (p.Arg705fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV003509849] Chr20:10645356 [GRCh38]
Chr20:10626004 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2759_2766del (p.Ile920fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV003509852] Chr20:10641610..10641617 [GRCh38]
Chr20:10622258..10622265 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2700A>T (p.Arg900=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003509958] Chr20:10641676 [GRCh38]
Chr20:10622324 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.139G>C (p.Gly47Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003826445]|Arteriohepatic dysplasia [RCV005002190] Chr20:10672949 [GRCh38]
Chr20:10653597 [GRCh37]
Chr20:20p12.2		 uncertain significance|not provided
NM_000214.3(JAG1):c.3081G>T (p.Pro1027=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003511167] Chr20:10640901 [GRCh38]
Chr20:10621549 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1709C>T (p.Thr570Ile) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003509126] Chr20:10647971 [GRCh38]
Chr20:10628619 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3000C>G (p.Ile1000Met) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003510796] Chr20:10641161 [GRCh38]
Chr20:10621809 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1850G>A (p.Cys617Tyr) single nucleotide variant not provided [RCV004801837] Chr20:10646974 [GRCh38]
Chr20:10627622 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.490A>G (p.Ser164Gly) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003619301] Chr20:10658672 [GRCh38]
Chr20:10639320 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.406G>A (p.Val136Met) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003619412]|Arteriohepatic dysplasia [RCV005002189] Chr20:10663996 [GRCh38]
Chr20:10644644 [GRCh37]
Chr20:20p12.2		 uncertain significance|not provided
NM_000214.3(JAG1):c.2672C>T (p.Ala891Val) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003620619]|Cardiovascular phenotype [RCV004634313] Chr20:10641793 [GRCh38]
Chr20:10622441 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.439+13T>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003619923] Chr20:10663950 [GRCh38]
Chr20:10644598 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1266A>T (p.Val422=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003620954] Chr20:10649604 [GRCh38]
Chr20:10630252 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1427C>T (p.Pro476Leu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003619619] Chr20:10648691 [GRCh38]
Chr20:10629339 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.805C>T (p.Pro269Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003620946] Chr20:10652549 [GRCh38]
Chr20:10633197 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1263T>A (p.Cys421Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003620659] Chr20:10649607 [GRCh38]
Chr20:10630255 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.635G>A (p.Cys212Tyr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003620028] Chr20:10658527 [GRCh38]
Chr20:10639175 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1349-18G>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003620350]|JAG1-related disorder [RCV004554320] Chr20:10649125 [GRCh38]
Chr20:10629773 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.694+4TG[6] microsatellite Alagille syndrome due to a JAG1 point mutation [RCV003620669] Chr20:10658451..10658452 [GRCh38]
Chr20:10639099..10639100 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2349C>A (p.Thr783=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003620670] Chr20:10644380 [GRCh38]
Chr20:10625028 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.647G>T (p.Gly216Val) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003620671] Chr20:10658515 [GRCh38]
Chr20:10639163 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1714T>C (p.Cys572Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003620834] Chr20:10647966 [GRCh38]
Chr20:10628614 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.271C>G (p.Pro91Ala) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003620841] Chr20:10672817 [GRCh38]
Chr20:10653465 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3048+2T>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003620845] Chr20:10641111 [GRCh38]
Chr20:10621759 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.1887T>C (p.Asn629=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003620386] Chr20:10646083 [GRCh38]
Chr20:10626731 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1396-1G>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003620854] Chr20:10648723 [GRCh38]
Chr20:10629371 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.2555G>T (p.Gly852Val) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003620866] Chr20:10642505 [GRCh38]
Chr20:10623153 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.184G>C (p.Gly62Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003816274] Chr20:10672904 [GRCh38]
Chr20:10653552 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.694+14T>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003620141] Chr20:10658454 [GRCh38]
Chr20:10639102 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1564T>C (p.Cys522Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003620720] Chr20:10648554 [GRCh38]
Chr20:10629202 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2344+6T>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003619371] Chr20:10644857 [GRCh38]
Chr20:10625505 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.473C>T (p.Ser158Leu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003620202]|JAG1-related disorder [RCV004554309] Chr20:10658689 [GRCh38]
Chr20:10639337 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.10C>T (p.Pro4Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003620898] Chr20:10673521 [GRCh38]
Chr20:10654169 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2283C>T (p.Val761=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003620738] Chr20:10644924 [GRCh38]
Chr20:10625572 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1953C>A (p.Tyr651Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003620907] Chr20:10646017 [GRCh38]
Chr20:10626665 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2717_2725dup (p.His908_Ser909insLysGlyHis) duplication Alagille syndrome due to a JAG1 point mutation [RCV003620538] Chr20:10641650..10641651 [GRCh38]
Chr20:10622298..10622299 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.760C>T (p.Gln254Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003620913] Chr20:10652594 [GRCh38]
Chr20:10633242 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3586T>G (p.Trp1196Gly) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003619271] Chr20:10639569 [GRCh38]
Chr20:10620217 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.440-19T>G single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003620269] Chr20:10658741 [GRCh38]
Chr20:10639389 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.388-14T>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003852889] Chr20:10664028 [GRCh38]
Chr20:10644676 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1025C>G (p.Ser342Cys) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003620921] Chr20:10651676 [GRCh38]
Chr20:10632324 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3228C>T (p.Val1076=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003620295] Chr20:10639927 [GRCh38]
Chr20:10620575 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3649A>C (p.Ile1217Leu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003619351] Chr20:10639506 [GRCh38]
Chr20:10620154 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.725A>G (p.His242Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003620152] Chr20:10656428 [GRCh38]
Chr20:10637076 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1569+1G>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003619411] Chr20:10648548 [GRCh38]
Chr20:10629196 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.2433T>G (p.Gly811=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003619456] Chr20:10643803 [GRCh38]
Chr20:10624451 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2169G>A (p.Glu723=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003620155]|Cardiovascular phenotype [RCV004992771] Chr20:10645201 [GRCh38]
Chr20:10625849 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3206T>C (p.Leu1069Pro) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003620569] Chr20:10639949 [GRCh38]
Chr20:10620597 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.822C>T (p.Gly274=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003619506] Chr20:10652532 [GRCh38]
Chr20:10633180 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.396T>C (p.Tyr132=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003620184] Chr20:10664006 [GRCh38]
Chr20:10644654 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2572+17T>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003619296] Chr20:10642471 [GRCh38]
Chr20:10623119 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1872A>G (p.Thr624=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003619336] Chr20:10646952 [GRCh38]
Chr20:10627600 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1177G>C (p.Val393Leu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003813861] Chr20:10650304 [GRCh38]
Chr20:10630952 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2682+8A>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003619538]|JAG1-related disorder [RCV004723441] Chr20:10641775 [GRCh38]
Chr20:10622423 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.135G>T (p.Val45=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003815032]|JAG1-related disorder [RCV004548698] Chr20:10672953 [GRCh38]
Chr20:10653601 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1839C>T (p.Phe613=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003619626] Chr20:10646985 [GRCh38]
Chr20:10627633 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3147T>G (p.Ile1049Met) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003619543] Chr20:10640835 [GRCh38]
Chr20:10621483 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.133G>A (p.Val45Met) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003619583] Chr20:10672955 [GRCh38]
Chr20:10653603 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.29C>T (p.Ser10Phe) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003619634] Chr20:10673502 [GRCh38]
Chr20:10654150 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.813C>T (p.Cys271=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003620255] Chr20:10652541 [GRCh38]
Chr20:10633189 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3492C>T (p.His1164=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003620306] Chr20:10639663 [GRCh38]
Chr20:10620311 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2051A>G (p.Asp684Gly) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003619181] Chr20:10645418 [GRCh38]
Chr20:10626066 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2024C>T (p.Pro675Leu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003620336] Chr20:10645445 [GRCh38]
Chr20:10626093 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3328A>G (p.Asn1110Asp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003620053] Chr20:10639827 [GRCh38]
Chr20:10620475 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.346G>T (p.Asp116Tyr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003817181] Chr20:10672742 [GRCh38]
Chr20:10653390 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.2442G>A (p.Gly814=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003619233] Chr20:10643794 [GRCh38]
Chr20:10624442 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.20G>A (p.Arg7His) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003620043] Chr20:10673511 [GRCh38]
Chr20:10654159 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3208G>A (p.Val1070Ile) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003620063] Chr20:10639947 [GRCh38]
Chr20:10620595 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.495G>T (p.Arg165=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003620599] Chr20:10658667 [GRCh38]
Chr20:10639315 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1362C>A (p.Cys454Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003838020] Chr20:10649094 [GRCh38]
Chr20:10629742 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2759T>C (p.Ile920Thr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003851342] Chr20:10641617 [GRCh38]
Chr20:10622265 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.650A>G (p.Asn217Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003815779] Chr20:10658512 [GRCh38]
Chr20:10639160 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2709G>A (p.Leu903=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003835367] Chr20:10641667 [GRCh38]
Chr20:10622315 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2569G>A (p.Glu857Lys) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003839185] Chr20:10642491 [GRCh38]
Chr20:10623139 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2140T>C (p.Cys714Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003619159] Chr20:10645230 [GRCh38]
Chr20:10625878 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.4C>T (p.Arg2Cys) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003619168] Chr20:10673527 [GRCh38]
Chr20:10654175 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.87T>A (p.Cys29Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003621390] Chr20:10673001 [GRCh38]
Chr20:10653649 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.983_984insGGTCCTGCCCTGAGG (p.Tyr328Ter) insertion Alagille syndrome due to a JAG1 point mutation [RCV003621443] Chr20:10652153..10652154 [GRCh38]
Chr20:10632801..10632802 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.217dup (p.Thr73fs) duplication Alagille syndrome due to a JAG1 point mutation [RCV003621269] Chr20:10672870..10672871 [GRCh38]
Chr20:10653518..10653519 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2990C>T (p.Ser997Leu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003621327] Chr20:10641171 [GRCh38]
Chr20:10621819 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.545A>G (p.Gln182Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003621337] Chr20:10658617 [GRCh38]
Chr20:10639265 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.729G>A (p.Gly243=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003857979]|Arteriohepatic dysplasia [RCV005002191] Chr20:10656424 [GRCh38]
Chr20:10637072 [GRCh37]
Chr20:20p12.2		 likely benign|not provided
NM_000214.3(JAG1):c.665A>G (p.Glu222Gly) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003844168] Chr20:10658497 [GRCh38]
Chr20:10639145 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2919del (p.Thr975fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV003621169] Chr20:10641242 [GRCh38]
Chr20:10621890 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2579G>C (p.Gly860Ala) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003858167] Chr20:10641886 [GRCh38]
Chr20:10622534 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1437T>G (p.Tyr479Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003621289] Chr20:10648681 [GRCh38]
Chr20:10629329 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1540C>G (p.Pro514Ala) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003620974]|Cardiovascular phenotype [RCV004992711] Chr20:10648578 [GRCh38]
Chr20:10629226 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1357G>A (p.Asp453Asn) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003621123] Chr20:10649099 [GRCh38]
Chr20:10629747 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2616T>C (p.Asp872=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003867683] Chr20:10641849 [GRCh38]
Chr20:10622497 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.395A>C (p.Tyr132Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003621354] Chr20:10664007 [GRCh38]
Chr20:10644655 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.755+18T>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003621429] Chr20:10656380 [GRCh38]
Chr20:10637028 [GRCh37]
Chr20:20p12.2		 likely benign
GRCh37/hg19 20p12.2(chr20:9596286-10678665)x1 copy number loss not specified [RCV003986142] Chr20:9596286..10678665 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2640dup (p.Asn881Ter) duplication Alagille syndrome due to a JAG1 point mutation [RCV003871837] Chr20:10641824..10641825 [GRCh38]
Chr20:10622472..10622473 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2766C>A (p.Asp922Glu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003848456] Chr20:10641610 [GRCh38]
Chr20:10622258 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2459-10T>C single nucleotide variant JAG1-related disorder [RCV004552675] Chr20:10642611 [GRCh38]
Chr20:10623259 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1368C>T (p.Gly456=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003867153] Chr20:10649088 [GRCh38]
Chr20:10629736 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.2088G>A (p.Gly696=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003843337] Chr20:10645381 [GRCh38]
Chr20:10626029 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.61C>G (p.Leu21Val) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003857057]|Arteriohepatic dysplasia [RCV005002192] Chr20:10673470 [GRCh38]
Chr20:10654118 [GRCh37]
Chr20:20p12.2		 uncertain significance|not provided
NM_000214.3(JAG1):c.1470_1472dup (p.Cys491Ter) duplication Alagille syndrome due to a JAG1 point mutation [RCV003621078] Chr20:10648645..10648646 [GRCh38]
Chr20:10629293..10629294 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1608C>G (p.Asn536Lys) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003621346] Chr20:10648072 [GRCh38]
Chr20:10628720 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2346T>C (p.Asn782=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003870252] Chr20:10644383 [GRCh38]
Chr20:10625031 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1898G>A (p.Cys633Tyr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003621366] Chr20:10646072 [GRCh38]
Chr20:10626720 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.507G>A (p.Thr169=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003870383] Chr20:10658655 [GRCh38]
Chr20:10639303 [GRCh37]
Chr20:20p12.2		 likely benign
GRCh37/hg19 20p12.3-12.2(chr20:7856703-11991178)x1 copy number loss not specified [RCV003986129] Chr20:7856703..11991178 [GRCh37]
Chr20:20p12.3-12.2		 pathogenic
NM_000214.3(JAG1):c.388-16_388-12delinsCAGAGGTCCTATACG indel Alagille syndrome due to a JAG1 point mutation [RCV003862463] Chr20:10664026..10664030 [GRCh38]
Chr20:10644674..10644678 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1349-173_1483del deletion Alagille syndrome due to a JAG1 point mutation [RCV003620967] Chr20:10648635..10649280 [GRCh38]
Chr20:10629283..10629928 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.764_765inv (p.Tyr255Cys) inversion Alagille syndrome due to a JAG1 point mutation [RCV003621105] Chr20:10652589..10652590 [GRCh38]
Chr20:10633237..10633238 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1258C>A (p.Pro420Thr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003621142] Chr20:10649612 [GRCh38]
Chr20:10630260 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3070G>A (p.Asp1024Asn) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003621148] Chr20:10640912 [GRCh38]
Chr20:10621560 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1295C>G (p.Ala432Gly) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003861342] Chr20:10649575 [GRCh38]
Chr20:10630223 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1290C>T (p.Leu430=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003820027] Chr20:10649580 [GRCh38]
Chr20:10630228 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1462A>T (p.Ile488Phe) single nucleotide variant Cardiovascular phenotype [RCV004520763] Chr20:10648656 [GRCh38]
Chr20:10629304 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1941T>G (p.Gly647=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005100685]|Cardiovascular phenotype [RCV004520764] Chr20:10646029 [GRCh38]
Chr20:10626677 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2121T>C (p.Ser707=) single nucleotide variant Cardiovascular phenotype [RCV004520765] Chr20:10645249 [GRCh38]
Chr20:10625897 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2261A>G (p.His754Arg) single nucleotide variant Cardiovascular phenotype [RCV004520766] Chr20:10644946 [GRCh38]
Chr20:10625594 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2318G>A (p.Gly773Asp) single nucleotide variant Cardiovascular phenotype [RCV004520767] Chr20:10644889 [GRCh38]
Chr20:10625537 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3023C>A (p.Ala1008Glu) single nucleotide variant Cardiovascular phenotype [RCV004520771] Chr20:10641138 [GRCh38]
Chr20:10621786 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3603C>T (p.Asp1201=) single nucleotide variant Cardiovascular phenotype [RCV004520775] Chr20:10639552 [GRCh38]
Chr20:10620200 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.606C>A (p.Pro202=) single nucleotide variant Cardiovascular phenotype [RCV004520778] Chr20:10658556 [GRCh38]
Chr20:10639204 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.69C>T (p.Ala23=) single nucleotide variant Cardiovascular phenotype [RCV004520779] Chr20:10673462 [GRCh38]
Chr20:10654110 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.807G>A (p.Pro269=) single nucleotide variant Cardiovascular phenotype [RCV004520780] Chr20:10652547 [GRCh38]
Chr20:10633195 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.830A>T (p.Asn277Ile) single nucleotide variant Arteriohepatic dysplasia [RCV005002193]|Cardiovascular phenotype [RCV004520782] Chr20:10652524 [GRCh38]
Chr20:10633172 [GRCh37]
Chr20:20p12.2		 uncertain significance|not provided
NM_000214.3(JAG1):c.80A>G (p.Lys27Arg) single nucleotide variant Cardiovascular phenotype [RCV004520781] Chr20:10673451 [GRCh38]
Chr20:10654099 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3445_3448del (p.Ile1149fs) deletion Hepatoblastoma [RCV003991554] Chr20:10639707..10639710 [GRCh38]
Chr20:10620355..10620358 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.3024G>A (p.Ala1008=) single nucleotide variant Cardiovascular phenotype [RCV004520772] Chr20:10641137 [GRCh38]
Chr20:10621785 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2604T>A (p.Ser868Arg) single nucleotide variant Cardiovascular phenotype [RCV004520768] Chr20:10641861 [GRCh38]
Chr20:10622509 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3556C>T (p.Pro1186Ser) single nucleotide variant Cardiovascular phenotype [RCV004520773] Chr20:10639599 [GRCh38]
Chr20:10620247 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3600G>A (p.Gln1200=) single nucleotide variant Cardiovascular phenotype [RCV004520774] Chr20:10639555 [GRCh38]
Chr20:10620203 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1049G>A (p.Ser350Asn) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005038694]|Alagille syndrome due to a JAG1 point mutation [RCV005100684]|Cardiovascular phenotype [RCV004520762] Chr20:10651652 [GRCh38]
Chr20:10632300 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2957T>C (p.Leu986Ser) single nucleotide variant Cardiovascular phenotype [RCV004520770] Chr20:10641204 [GRCh38]
Chr20:10621852 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3606C>T (p.Asn1202=) single nucleotide variant Cardiovascular phenotype [RCV004520776] Chr20:10639549 [GRCh38]
Chr20:10620197 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2938T>G (p.Cys980Gly) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003990327] Chr20:10641223 [GRCh38]
Chr20:10621871 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.387+6_387+7del deletion JAG1-related disorder [RCV004554374] Chr20:10672694..10672695 [GRCh38]
Chr20:10653342..10653343 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.36C>T (p.Arg12=) single nucleotide variant JAG1-related disorder [RCV004552858] Chr20:10673495 [GRCh38]
Chr20:10654143 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1656C>T (p.Pro552=) single nucleotide variant JAG1-related disorder [RCV004554459] Chr20:10648024 [GRCh38]
Chr20:10628672 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1211G>A (p.Trp404Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003985953] Chr20:10650270 [GRCh38]
Chr20:10630918 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.387+1G>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003986036] Chr20:10672700 [GRCh38]
Chr20:10653348 [GRCh37]
Chr20:20p12.2		 likely pathogenic
GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3 copy number gain not provided [RCV003885494] Chr20:68351..16142323 [GRCh37]
Chr20:20p13-12.1		 pathogenic
NM_000214.3(JAG1):c.2728G>T (p.Glu910Ter) single nucleotide variant JAG1-related disorder [RCV004548749] Chr20:10641648 [GRCh38]
Chr20:10622296 [GRCh37]
Chr20:20p12.2		 pathogenic
GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3 copy number gain not provided [RCV003885495] Chr20:68351..23860313 [GRCh37]
Chr20:20p13-11.21		 pathogenic
NM_000214.3(JAG1):c.2493dup (p.Gly832fs) duplication JAG1-related disorder [RCV004554450] Chr20:10642566..10642567 [GRCh38]
Chr20:10623214..10623215 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.1395+8A>T single nucleotide variant JAG1-related disorder [RCV004552701] Chr20:10649053 [GRCh38]
Chr20:10629701 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3048+5G>A single nucleotide variant JAG1-related disorder [RCV004548859] Chr20:10641108 [GRCh38]
Chr20:10621756 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3651C>A (p.Ile1217=) single nucleotide variant Cardiovascular phenotype [RCV004369779]|JAG1-related disorder [RCV004550936] Chr20:10639504 [GRCh38]
Chr20:10620152 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.755+6T>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003988790] Chr20:10656392 [GRCh38]
Chr20:10637040 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2085_2101del (p.Gly696fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV003988989] Chr20:10645368..10645384 [GRCh38]
Chr20:10626016..10626032 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.496C>T (p.Gln166Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003989057] Chr20:10658666 [GRCh38]
Chr20:10639314 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2583dup (p.Pro862fs) duplication JAG1-related disorder [RCV004548960] Chr20:10641881..10641882 [GRCh38]
Chr20:10622529..10622530 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1813del (p.Cys605fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV004006216] Chr20:10647011 [GRCh38]
Chr20:10627659 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1721-2A>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV003885404] Chr20:10647105 [GRCh38]
Chr20:10627753 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.2923A>T (p.Thr975Ser) single nucleotide variant Cardiovascular phenotype [RCV004520769] Chr20:10641238 [GRCh38]
Chr20:10621886 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.*8C>T single nucleotide variant JAG1-related disorder [RCV004550930] Chr20:10639490 [GRCh38]
Chr20:10620138 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2006del (p.Asn669fs) deletion JAG1-related disorder [RCV004548918] Chr20:10645463 [GRCh38]
Chr20:10626111 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.1644del (p.Cys549fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV003990626] Chr20:10648036 [GRCh38]
Chr20:10628684 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.11del (p.Pro4fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV004555511] Chr20:10673520 [GRCh38]
Chr20:10654168 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.2336G>A (p.Cys779Tyr) single nucleotide variant not provided [RCV004547110] Chr20:10644871 [GRCh38]
Chr20:10625519 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2393T>C (p.Val798Ala) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV004560475] Chr20:10643843 [GRCh38]
Chr20:10624491 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2288G>T (p.Gly763Val) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV004577416] Chr20:10644919 [GRCh38]
Chr20:10625567 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2328dup (p.Pro777fs) duplication Alagille syndrome due to a JAG1 point mutation [RCV004594976] Chr20:10644878..10644879 [GRCh38]
Chr20:10625526..10625527 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1538G>A (p.Cys513Tyr) single nucleotide variant Cardiovascular phenotype [RCV004401031] Chr20:10648580 [GRCh38]
Chr20:10629228 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1739T>C (p.Val580Ala) single nucleotide variant Cardiovascular phenotype [RCV004401032] Chr20:10647085 [GRCh38]
Chr20:10627733 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1984G>A (p.Ala662Thr) single nucleotide variant Cardiovascular phenotype [RCV004401033] Chr20:10645986 [GRCh38]
Chr20:10626634 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.210G>C (p.Glu70Asp) single nucleotide variant Cardiovascular phenotype [RCV004401034] Chr20:10672878 [GRCh38]
Chr20:10653526 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2902G>C (p.Glu968Gln) single nucleotide variant Cardiovascular phenotype [RCV004401036] Chr20:10641474 [GRCh38]
Chr20:10622122 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3005G>C (p.Cys1002Ser) single nucleotide variant Cardiovascular phenotype [RCV004401037] Chr20:10641156 [GRCh38]
Chr20:10621804 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3484G>A (p.Asp1162Asn) single nucleotide variant Cardiovascular phenotype [RCV004401038] Chr20:10639671 [GRCh38]
Chr20:10620319 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.484_486del (p.Asn162del) deletion Alagille syndrome due to a JAG1 point mutation [RCV004577240] Chr20:10658676..10658678 [GRCh38]
Chr20:10639324..10639326 [GRCh37]
Chr20:20p12.2		 uncertain significance
NC_000020.10:g.(?_7812350)_(10654278_?)del deletion Alagille syndrome due to a JAG1 point mutation [RCV004579455]|Developmental and epileptic encephalopathy, 12 [RCV004579456] Chr20:7812350..10654278 [GRCh37]
Chr20:20p12.3-12.2		 pathogenic
NC_000020.10:g.(?_10620146)_(10620623_?)del deletion Alagille syndrome due to a JAG1 point mutation [RCV004579457] Chr20:10620146..10620623 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.549C>A (p.Ile183=) single nucleotide variant Cardiovascular phenotype [RCV004635690] Chr20:10658613 [GRCh38]
Chr20:10639261 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2000A>T (p.Asn667Ile) single nucleotide variant Cardiovascular phenotype [RCV004635691] Chr20:10645469 [GRCh38]
Chr20:10626117 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2733C>T (p.Cys911=) single nucleotide variant Cardiovascular phenotype [RCV004635696] Chr20:10641643 [GRCh38]
Chr20:10622291 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1303T>G (p.Tyr435Asp) single nucleotide variant Cardiovascular phenotype [RCV004635697] Chr20:10649567 [GRCh38]
Chr20:10630215 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.99del (p.Gln34fs) deletion not provided [RCV004701953] Chr20:10672989 [GRCh38]
Chr20:10653637 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.539A>C (p.Glu180Ala) single nucleotide variant Cardiovascular phenotype [RCV004635698] Chr20:10658623 [GRCh38]
Chr20:10639271 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2611C>A (p.Pro871Thr) single nucleotide variant Cardiovascular phenotype [RCV004635699] Chr20:10641854 [GRCh38]
Chr20:10622502 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1685A>G (p.His562Arg) single nucleotide variant Cardiovascular phenotype [RCV004635700] Chr20:10647995 [GRCh38]
Chr20:10628643 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2466T>C (p.Asn822=) single nucleotide variant Cardiovascular phenotype [RCV004635695] Chr20:10642594 [GRCh38]
Chr20:10623242 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2547del (p.His850fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV004596682] Chr20:10642513 [GRCh38]
Chr20:10623161 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2181dup (p.Lys728Ter) duplication Alagille syndrome due to a JAG1 point mutation [RCV004593656] Chr20:10645188..10645189 [GRCh38]
Chr20:10625836..10625837 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.446A>C (p.Asp149Ala) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005102239]|Cardiovascular phenotype [RCV004635692] Chr20:10658716 [GRCh38]
Chr20:10639364 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.109T>C (p.Leu37=) single nucleotide variant Cardiovascular phenotype [RCV004635694] Chr20:10672979 [GRCh38]
Chr20:10653627 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1974C>A (p.Gly658=) single nucleotide variant Cardiovascular phenotype [RCV004635693] Chr20:10645996 [GRCh38]
Chr20:10626644 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.191G>A (p.Arg64His) single nucleotide variant Cardiovascular phenotype [RCV004626512] Chr20:10672897 [GRCh38]
Chr20:10653545 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2682G>A (p.Lys894=) single nucleotide variant not provided [RCV004778479] Chr20:10641783 [GRCh38]
Chr20:10622431 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.396T>A (p.Tyr132Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV004789887] Chr20:10664006 [GRCh38]
Chr20:10644654 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2595del (p.Met866fs) deletion JAG1-related disorder [RCV004728510] Chr20:10641870 [GRCh38]
Chr20:10622518 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.2T>A (p.Met1Lys) single nucleotide variant JAG1-related disorder [RCV004739999] Chr20:10673529 [GRCh38]
Chr20:10654177 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.1794_1797del (p.Cys599fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV004797583] Chr20:10647027..10647030 [GRCh38]
Chr20:10627675..10627678 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3047T>C (p.Ile1016Thr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV004818925] Chr20:10641114 [GRCh38]
Chr20:10621762 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2898_2899dup (p.Lys967fs) duplication Alagille syndrome due to a JAG1 point mutation [RCV004818993] Chr20:10641476..10641477 [GRCh38]
Chr20:10622124..10622125 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.3124C>A (p.Arg1042Ser) single nucleotide variant not provided [RCV004771119] Chr20:10640858 [GRCh38]
Chr20:10621506 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3148G>C (p.Ala1050Pro) single nucleotide variant not provided [RCV004723918] Chr20:10640834 [GRCh38]
Chr20:10621482 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2682+1G>A single nucleotide variant JAG1-related disorder [RCV004724526] Chr20:10641782 [GRCh38]
Chr20:10622430 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.73C>T (p.Arg25Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005103636]|JAG1-related disorder [RCV004729915] Chr20:10673458 [GRCh38]
Chr20:10654106 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1978G>T (p.Glu660Ter) single nucleotide variant JAG1-related disorder [RCV004729830] Chr20:10645992 [GRCh38]
Chr20:10626640 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.2T>C (p.Met1Thr) single nucleotide variant JAG1-related disorder [RCV004726690] Chr20:10673529 [GRCh38]
Chr20:10654177 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.504G>A (p.Gln168=) single nucleotide variant not provided [RCV004725917] Chr20:10658658 [GRCh38]
Chr20:10639306 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2733C>A (p.Cys911Ter) single nucleotide variant JAG1-related disorder [RCV004728278] Chr20:10641643 [GRCh38]
Chr20:10622291 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.1942del (p.Val648fs) deletion JAG1-related disorder [RCV004730085] Chr20:10646028 [GRCh38]
Chr20:10626676 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.666A>C (p.Glu222Asp) single nucleotide variant JAG1-related disorder [RCV004730158] Chr20:10658496 [GRCh38]
Chr20:10639144 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1732T>C (p.Cys578Arg) single nucleotide variant not provided [RCV004811326] Chr20:10647092 [GRCh38]
Chr20:10627740 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2616T>G (p.Asp872Glu) single nucleotide variant JAG1-related disorder [RCV004729989] Chr20:10641849 [GRCh38]
Chr20:10622497 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1731C>A (p.Ser577Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV004795442] Chr20:10647093 [GRCh38]
Chr20:10627741 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2844del (p.Lys947_Cys948insTer) deletion Alagille syndrome due to a JAG1 point mutation [RCV004785900] Chr20:10641532 [GRCh38]
Chr20:10622180 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.1466A>G (p.Asp489Gly) single nucleotide variant JAG1-related disorder [RCV004730276] Chr20:10648652 [GRCh38]
Chr20:10629300 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.221A>G (p.Tyr74Cys) single nucleotide variant JAG1-related disorder [RCV004727960] Chr20:10672867 [GRCh38]
Chr20:10653515 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.-8G>A single nucleotide variant JAG1-related disorder [RCV004740090] Chr20:10673538 [GRCh38]
Chr20:10654186 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2228-4A>C single nucleotide variant JAG1-related disorder [RCV004729870] Chr20:10644983 [GRCh38]
Chr20:10625631 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.805C>G (p.Pro269Ala) single nucleotide variant not provided [RCV004763123]   uncertain significance
NM_000214.3(JAG1):c.1375_1376dup (p.Gln459fs) duplication JAG1-related disorder [RCV004739109] Chr20:10649079..10649080 [GRCh38]
Chr20:10629727..10629728 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.181C>T (p.Pro61Ser) single nucleotide variant not provided [RCV004778805] Chr20:10672907 [GRCh38]
Chr20:10653555 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2114-7C>T single nucleotide variant JAG1-related disorder [RCV004740736] Chr20:10645263 [GRCh38]
Chr20:10625911 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1006+1G>A single nucleotide variant not provided [RCV004790818] Chr20:10652130 [GRCh38]
Chr20:10632778 [GRCh37]
Chr20:20p12.2		 uncertain significance
GRCh37/hg19 20p12.3-12.1(chr20:5454270-13610745)x1 copy number loss Congenital myasthenic syndrome 18 [RCV004767731] Chr20:5454270..13610745 [GRCh37]
Chr20:20p12.3-12.1		 likely pathogenic
NM_000214.3(JAG1):c.2236_2237del (p.Asn745_Ser746insTer) deletion Alagille syndrome due to a JAG1 point mutation [RCV004764582] Chr20:10644970..10644971 [GRCh38]
Chr20:10625618..10625619 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.537del (p.Phe179fs) deletion JAG1-related disorder [RCV004728204] Chr20:10658625 [GRCh38]
Chr20:10639273 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.3007_3010dup (p.Pro1004fs) duplication JAG1-related disorder [RCV004728174] Chr20:10641150..10641151 [GRCh38]
Chr20:10621798..10621799 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.1A>C (p.Met1Leu) single nucleotide variant JAG1-related disorder [RCV004740774] Chr20:10673530 [GRCh38]
Chr20:10654178 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.360C>G (p.Ile120Met) single nucleotide variant not provided [RCV004762800]   uncertain significance
NM_000214.3(JAG1):c.1815_1821delinsAGG (p.Cys605_Ser607delinsTer) indel Alagille syndrome due to a JAG1 point mutation [RCV004771766] Chr20:10647003..10647009 [GRCh38]
Chr20:10627651..10627657 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.527_532delinsAT (p.Val176fs) indel JAG1-related disorder [RCV004739218] Chr20:10658630..10658635 [GRCh38]
Chr20:10639278..10639283 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.872A>G (p.Gln291Arg) single nucleotide variant JAG1-related disorder [RCV004724264] Chr20:10652482 [GRCh38]
Chr20:10633130 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1060A>T (p.Thr354Ser) single nucleotide variant Cardiovascular phenotype [RCV004991779] Chr20:10651641 [GRCh38]
Chr20:10632289 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2194C>A (p.Pro732Thr) single nucleotide variant Cardiovascular phenotype [RCV004991794] Chr20:10645176 [GRCh38]
Chr20:10625824 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1489T>C (p.Leu497=) single nucleotide variant Cardiovascular phenotype [RCV004991804] Chr20:10648629 [GRCh38]
Chr20:10629277 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1512T>C (p.Asn504=) single nucleotide variant Cardiovascular phenotype [RCV004991807] Chr20:10648606 [GRCh38]
Chr20:10629254 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2694C>T (p.Gly898=) single nucleotide variant Cardiovascular phenotype [RCV004991817] Chr20:10641682 [GRCh38]
Chr20:10622330 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2093A>G (p.Lys698Arg) single nucleotide variant Cardiovascular phenotype [RCV004991821] Chr20:10645376 [GRCh38]
Chr20:10626024 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.205G>C (p.Asp69His) single nucleotide variant Cardiovascular phenotype [RCV004991822] Chr20:10672883 [GRCh38]
Chr20:10653531 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3198A>G (p.Thr1066=) single nucleotide variant Cardiovascular phenotype [RCV004991777] Chr20:10640784 [GRCh38]
Chr20:10621432 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1553C>T (p.Ser518Phe) single nucleotide variant Cardiovascular phenotype [RCV004991783] Chr20:10648565 [GRCh38]
Chr20:10629213 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3335C>A (p.Thr1112Asn) single nucleotide variant Cardiovascular phenotype [RCV004991789] Chr20:10639820 [GRCh38]
Chr20:10620468 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1383C>A (p.Asp461Glu) single nucleotide variant Cardiovascular phenotype [RCV004991790] Chr20:10649073 [GRCh38]
Chr20:10629721 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3152C>T (p.Ala1051Val) single nucleotide variant Cardiovascular phenotype [RCV004991793] Chr20:10640830 [GRCh38]
Chr20:10621478 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3060T>C (p.Asp1020=) single nucleotide variant Cardiovascular phenotype [RCV004991795] Chr20:10640922 [GRCh38]
Chr20:10621570 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.31G>A (p.Gly11Arg) single nucleotide variant Cardiovascular phenotype [RCV004991796] Chr20:10673500 [GRCh38]
Chr20:10654148 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.147G>T (p.Leu49=) single nucleotide variant Cardiovascular phenotype [RCV004991801] Chr20:10672941 [GRCh38]
Chr20:10653589 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.172G>T (p.Ala58Ser) single nucleotide variant Cardiovascular phenotype [RCV004991802] Chr20:10672916 [GRCh38]
Chr20:10653564 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2984A>C (p.Glu995Ala) single nucleotide variant Cardiovascular phenotype [RCV004991813] Chr20:10641177 [GRCh38]
Chr20:10621825 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2267G>C (p.Gly756Ala) single nucleotide variant Cardiovascular phenotype [RCV004991778] Chr20:10644940 [GRCh38]
Chr20:10625588 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1804C>A (p.His602Asn) single nucleotide variant Cardiovascular phenotype [RCV004991784] Chr20:10647020 [GRCh38]
Chr20:10627668 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3123A>G (p.Lys1041=) single nucleotide variant Cardiovascular phenotype [RCV004991786] Chr20:10640859 [GRCh38]
Chr20:10621507 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3074G>A (p.Gly1025Glu) single nucleotide variant Cardiovascular phenotype [RCV004991788] Chr20:10640908 [GRCh38]
Chr20:10621556 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.746G>A (p.Gly249Asp) single nucleotide variant Cardiovascular phenotype [RCV004991791] Chr20:10656407 [GRCh38]
Chr20:10637055 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.529G>A (p.Ala177Thr) single nucleotide variant Cardiovascular phenotype [RCV004991792] Chr20:10658633 [GRCh38]
Chr20:10639281 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.273C>G (p.Pro91=) single nucleotide variant Cardiovascular phenotype [RCV004991798] Chr20:10672815 [GRCh38]
Chr20:10653463 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1494T>C (p.Asn498=) single nucleotide variant Cardiovascular phenotype [RCV004991805] Chr20:10648624 [GRCh38]
Chr20:10629272 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.322A>G (p.Asn108Asp) single nucleotide variant Cardiovascular phenotype [RCV004991809] Chr20:10672766 [GRCh38]
Chr20:10653414 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.696T>G (p.Ala232=) single nucleotide variant Cardiovascular phenotype [RCV004991785] Chr20:10656457 [GRCh38]
Chr20:10637105 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3075G>A (p.Gly1025=) single nucleotide variant Cardiovascular phenotype [RCV004991787] Chr20:10640907 [GRCh38]
Chr20:10621555 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.336C>T (p.Ser112=) single nucleotide variant Cardiovascular phenotype [RCV004991797] Chr20:10672752 [GRCh38]
Chr20:10653400 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.66T>C (p.Cys22=) single nucleotide variant Cardiovascular phenotype [RCV004991811] Chr20:10673465 [GRCh38]
Chr20:10654113 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3046A>G (p.Ile1016Val) single nucleotide variant Cardiovascular phenotype [RCV004991814] Chr20:10641115 [GRCh38]
Chr20:10621763 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2356T>G (p.Cys786Gly) single nucleotide variant Cardiovascular phenotype [RCV004991819] Chr20:10644373 [GRCh38]
Chr20:10625021 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.252C>G (p.Ser84=) single nucleotide variant Cardiovascular phenotype [RCV004991803] Chr20:10672836 [GRCh38]
Chr20:10653484 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.108G>A (p.Glu36=) single nucleotide variant Cardiovascular phenotype [RCV004991818] Chr20:10672980 [GRCh38]
Chr20:10653628 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.433A>G (p.Thr145Ala) single nucleotide variant Cardiovascular phenotype [RCV004991780] Chr20:10663969 [GRCh38]
Chr20:10644617 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3301A>G (p.Ser1101Gly) single nucleotide variant Cardiovascular phenotype [RCV004991781] Chr20:10639854 [GRCh38]
Chr20:10620502 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1769G>A (p.Gly590Glu) single nucleotide variant Cardiovascular phenotype [RCV004991782] Chr20:10647055 [GRCh38]
Chr20:10627703 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.246T>C (p.Tyr82=) single nucleotide variant Cardiovascular phenotype [RCV004991799] Chr20:10672842 [GRCh38]
Chr20:10653490 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.330G>A (p.Lys110=) single nucleotide variant Cardiovascular phenotype [RCV004991800] Chr20:10672758 [GRCh38]
Chr20:10653406 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.186A>G (p.Gly62=) single nucleotide variant Cardiovascular phenotype [RCV004991806] Chr20:10672902 [GRCh38]
Chr20:10653550 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1491G>C (p.Leu497Phe) single nucleotide variant Cardiovascular phenotype [RCV004991808] Chr20:10648627 [GRCh38]
Chr20:10629275 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.348C>A (p.Asp116Glu) single nucleotide variant Cardiovascular phenotype [RCV004991812] Chr20:10672740 [GRCh38]
Chr20:10653388 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3036A>G (p.Ile1012Met) single nucleotide variant Cardiovascular phenotype [RCV004991815] Chr20:10641125 [GRCh38]
Chr20:10621773 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2198G>A (p.Gly733Asp) single nucleotide variant Cardiovascular phenotype [RCV004991816] Chr20:10645172 [GRCh38]
Chr20:10625820 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1610G>T (p.Gly537Val) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005110388]|Cardiovascular phenotype [RCV004991820] Chr20:10648070 [GRCh38]
Chr20:10628718 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3080C>T (p.Pro1027Leu) single nucleotide variant Cardiovascular phenotype [RCV004991823] Chr20:10640902 [GRCh38]
Chr20:10621550 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3588G>C (p.Trp1196Cys) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005032468] Chr20:10639567 [GRCh38]
Chr20:10620215 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.925G>A (p.Gly309Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005032480]|Alagille syndrome due to a JAG1 point mutation [RCV005063248] Chr20:10652212 [GRCh38]
Chr20:10632860 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1241A>G (p.Asn414Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005032477] Chr20:10649629 [GRCh38]
Chr20:10630277 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2275T>A (p.Cys759Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005026839] Chr20:10644932 [GRCh38]
Chr20:10625580 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1822C>G (p.Gln608Glu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005026843] Chr20:10647002 [GRCh38]
Chr20:10627650 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1589A>G (p.Glu530Gly) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005026845] Chr20:10648091 [GRCh38]
Chr20:10628739 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1462A>G (p.Ile488Val) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005026848] Chr20:10648656 [GRCh38]
Chr20:10629304 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.413C>A (p.Ala138Glu) single nucleotide variant Arteriohepatic dysplasia [RCV005002202] Chr20:10663989 [GRCh38]
Chr20:10644637 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.475G>A (p.Gly159Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002207] Chr20:10658687 [GRCh38]
Chr20:10639335 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.482T>A (p.Ile161Asn) single nucleotide variant Arteriohepatic dysplasia [RCV005002208] Chr20:10658680 [GRCh38]
Chr20:10639328 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.501G>T (p.Trp167Cys) single nucleotide variant Arteriohepatic dysplasia [RCV005002212] Chr20:10658661 [GRCh38]
Chr20:10639309 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.508C>A (p.Leu170Met) single nucleotide variant Arteriohepatic dysplasia [RCV005002218] Chr20:10658654 [GRCh38]
Chr20:10639302 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.530C>A (p.Ala177Asp) single nucleotide variant Arteriohepatic dysplasia [RCV005002219] Chr20:10658632 [GRCh38]
Chr20:10639280 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.545A>C (p.Gln182Pro) single nucleotide variant Arteriohepatic dysplasia [RCV005002225] Chr20:10658617 [GRCh38]
Chr20:10639265 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.559T>A (p.Cys187Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002234] Chr20:10658603 [GRCh38]
Chr20:10639251 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.571T>G (p.Tyr191Asp) single nucleotide variant Arteriohepatic dysplasia [RCV005002236] Chr20:10658591 [GRCh38]
Chr20:10639239 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.578G>T (p.Gly193Val) single nucleotide variant Arteriohepatic dysplasia [RCV005002237] Chr20:10658584 [GRCh38]
Chr20:10639232 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.53T>A (p.Leu18His) single nucleotide variant Arteriohepatic dysplasia [RCV005002241] Chr20:10673478 [GRCh38]
Chr20:10654126 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.586T>A (p.Cys196Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002242] Chr20:10658576 [GRCh38]
Chr20:10639224 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.639C>G (p.Asp213Glu) single nucleotide variant Arteriohepatic dysplasia [RCV005002245] Chr20:10658523 [GRCh38]
Chr20:10639171 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.660C>G (p.Cys220Trp) single nucleotide variant Arteriohepatic dysplasia [RCV005002246] Chr20:10658502 [GRCh38]
Chr20:10639150 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.659G>A (p.Cys220Tyr) single nucleotide variant Arteriohepatic dysplasia [RCV005002247] Chr20:10658503 [GRCh38]
Chr20:10639151 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.667G>A (p.Gly223Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002249] Chr20:10658495 [GRCh38]
Chr20:10639143 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.672G>T (p.Trp224Cys) single nucleotide variant Arteriohepatic dysplasia [RCV005002250] Chr20:10658490 [GRCh38]
Chr20:10639138 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.718C>A (p.Pro240Thr) single nucleotide variant Arteriohepatic dysplasia [RCV005002256] Chr20:10656435 [GRCh38]
Chr20:10637083 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.757T>A (p.Cys253Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002258] Chr20:10652597 [GRCh38]
Chr20:10633245 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.767G>T (p.Gly256Val) single nucleotide variant Arteriohepatic dysplasia [RCV005002260] Chr20:10652587 [GRCh38]
Chr20:10633235 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.766G>A (p.Gly256Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005112524]|Arteriohepatic dysplasia [RCV005002262] Chr20:10652588 [GRCh38]
Chr20:10633236 [GRCh37]
Chr20:20p12.2		 uncertain significance|not provided
NM_000214.3(JAG1):c.794G>T (p.Cys265Phe) single nucleotide variant Arteriohepatic dysplasia [RCV005002269] Chr20:10652560 [GRCh38]
Chr20:10633208 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.793T>A (p.Cys265Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002271] Chr20:10652561 [GRCh38]
Chr20:10633209 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.812G>A (p.Cys271Tyr) single nucleotide variant Arteriohepatic dysplasia [RCV005002274] Chr20:10652542 [GRCh38]
Chr20:10633190 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.811T>C (p.Cys271Arg) single nucleotide variant Arteriohepatic dysplasia [RCV005002276] Chr20:10652543 [GRCh38]
Chr20:10633191 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.820G>C (p.Gly274Arg) single nucleotide variant Arteriohepatic dysplasia [RCV005002283] Chr20:10652534 [GRCh38]
Chr20:10633182 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.824T>C (p.Ile275Thr) single nucleotide variant Arteriohepatic dysplasia [RCV005002286] Chr20:10652530 [GRCh38]
Chr20:10633178 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.823A>G (p.Ile275Val) single nucleotide variant Arteriohepatic dysplasia [RCV005002289] Chr20:10652531 [GRCh38]
Chr20:10633179 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.828T>G (p.Cys276Trp) single nucleotide variant Arteriohepatic dysplasia [RCV005002290] Chr20:10652526 [GRCh38]
Chr20:10633174 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.831T>A (p.Asn277Lys) single nucleotide variant Arteriohepatic dysplasia [RCV005002295] Chr20:10652523 [GRCh38]
Chr20:10633171 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.829A>T (p.Asn277Tyr) single nucleotide variant Arteriohepatic dysplasia [RCV005002297] Chr20:10652525 [GRCh38]
Chr20:10633173 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.855G>C (p.Glu285Asp) single nucleotide variant Arteriohepatic dysplasia [RCV005002311] Chr20:10652499 [GRCh38]
Chr20:10633147 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.862T>G (p.Trp288Gly) single nucleotide variant Arteriohepatic dysplasia [RCV005002324] Chr20:10652492 [GRCh38]
Chr20:10633140 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.67G>C (p.Ala23Pro) single nucleotide variant Arteriohepatic dysplasia [RCV005002325] Chr20:10673464 [GRCh38]
Chr20:10654112 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.878G>T (p.Cys293Phe) single nucleotide variant Arteriohepatic dysplasia [RCV005002328] Chr20:10652476 [GRCh38]
Chr20:10633124 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.878G>C (p.Cys293Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002329] Chr20:10652476 [GRCh38]
Chr20:10633124 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.899G>C (p.Cys300Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002341] Chr20:10652238 [GRCh38]
Chr20:10632886 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.898T>G (p.Cys300Gly) single nucleotide variant Arteriohepatic dysplasia [RCV005002342] Chr20:10652239 [GRCh38]
Chr20:10632887 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.898T>C (p.Cys300Arg) single nucleotide variant Arteriohepatic dysplasia [RCV005002343] Chr20:10652239 [GRCh38]
Chr20:10632887 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.902G>T (p.Gly301Val) single nucleotide variant Arteriohepatic dysplasia [RCV005002346] Chr20:10652235 [GRCh38]
Chr20:10632883 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.905C>A (p.Thr302Asn) single nucleotide variant Arteriohepatic dysplasia [RCV005002350] Chr20:10652232 [GRCh38]
Chr20:10632880 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.935G>T (p.Cys312Phe) single nucleotide variant Arteriohepatic dysplasia [RCV005002359] Chr20:10652202 [GRCh38]
Chr20:10632850 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.935G>C (p.Cys312Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002360] Chr20:10652202 [GRCh38]
Chr20:10632850 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.934T>G (p.Cys312Gly) single nucleotide variant Arteriohepatic dysplasia [RCV005002362] Chr20:10652203 [GRCh38]
Chr20:10632851 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.934T>C (p.Cys312Arg) single nucleotide variant Arteriohepatic dysplasia [RCV005002363] Chr20:10652203 [GRCh38]
Chr20:10632851 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.965G>C (p.Cys322Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002368] Chr20:10652172 [GRCh38]
Chr20:10632820 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.36C>G (p.Arg12=) single nucleotide variant Arteriohepatic dysplasia [RCV005002378] Chr20:10673495 [GRCh38]
Chr20:10654143 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.52C>G (p.Leu18Val) single nucleotide variant Arteriohepatic dysplasia [RCV005002380] Chr20:10673479 [GRCh38]
Chr20:10654127 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.83T>C (p.Val28Ala) single nucleotide variant Arteriohepatic dysplasia [RCV005002390] Chr20:10673005 [GRCh38]
Chr20:10653653 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.91G>C (p.Ala31Pro) single nucleotide variant Arteriohepatic dysplasia [RCV005002395] Chr20:10672997 [GRCh38]
Chr20:10653645 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.94T>G (p.Ser32Ala) single nucleotide variant Arteriohepatic dysplasia [RCV005002398] Chr20:10672994 [GRCh38]
Chr20:10653642 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.99T>A (p.Gly33=) single nucleotide variant Arteriohepatic dysplasia [RCV005002400] Chr20:10672989 [GRCh38]
Chr20:10653637 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.106G>C (p.Glu36Gln) single nucleotide variant Arteriohepatic dysplasia [RCV005002403] Chr20:10672982 [GRCh38]
Chr20:10653630 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.113A>C (p.Glu38Ala) single nucleotide variant Arteriohepatic dysplasia [RCV005002404] Chr20:10672975 [GRCh38]
Chr20:10653623 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.115A>C (p.Ile39Leu) single nucleotide variant Arteriohepatic dysplasia [RCV005002405] Chr20:10672973 [GRCh38]
Chr20:10653621 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.123C>G (p.Ser41=) single nucleotide variant Arteriohepatic dysplasia [RCV005002407] Chr20:10672965 [GRCh38]
Chr20:10653613 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.122C>G (p.Ser41Cys) single nucleotide variant Arteriohepatic dysplasia [RCV005002408] Chr20:10672966 [GRCh38]
Chr20:10653614 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.135G>C (p.Val45=) single nucleotide variant Arteriohepatic dysplasia [RCV005002413] Chr20:10672953 [GRCh38]
Chr20:10653601 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.138C>G (p.Asn46Lys) single nucleotide variant Arteriohepatic dysplasia [RCV005002415] Chr20:10672950 [GRCh38]
Chr20:10653598 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.144G>C (p.Glu48Asp) single nucleotide variant Arteriohepatic dysplasia [RCV005002418] Chr20:10672944 [GRCh38]
Chr20:10653592 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.164G>A (p.Cys55Tyr) single nucleotide variant Arteriohepatic dysplasia [RCV005002424] Chr20:10672924 [GRCh38]
Chr20:10653572 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.220T>G (p.Tyr74Asp) single nucleotide variant Arteriohepatic dysplasia [RCV005002427] Chr20:10672868 [GRCh38]
Chr20:10653516 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.234C>G (p.Cys78Trp) single nucleotide variant Arteriohepatic dysplasia [RCV005002429] Chr20:10672854 [GRCh38]
Chr20:10653502 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.236T>C (p.Leu79Pro) single nucleotide variant Arteriohepatic dysplasia [RCV005002431] Chr20:10672852 [GRCh38]
Chr20:10653500 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.283G>A (p.Gly95Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002433] Chr20:10672805 [GRCh38]
Chr20:10653453 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.296C>A (p.Thr99Lys) single nucleotide variant Arteriohepatic dysplasia [RCV005002434] Chr20:10672792 [GRCh38]
Chr20:10653440 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.295A>G (p.Thr99Ala) single nucleotide variant Arteriohepatic dysplasia [RCV005002436] Chr20:10672793 [GRCh38]
Chr20:10653441 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.351C>A (p.Arg117=) single nucleotide variant Arteriohepatic dysplasia [RCV005002443] Chr20:10672737 [GRCh38]
Chr20:10653385 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.372C>G (p.Phe124Leu) single nucleotide variant Arteriohepatic dysplasia [RCV005002447] Chr20:10672716 [GRCh38]
Chr20:10653364 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.100C>G (p.Gln34Glu) single nucleotide variant Arteriohepatic dysplasia [RCV005002455] Chr20:10672988 [GRCh38]
Chr20:10653636 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.392C>G (p.Ser131Cys) single nucleotide variant Arteriohepatic dysplasia [RCV005002459] Chr20:10664010 [GRCh38]
Chr20:10644658 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.402G>C (p.Leu134Phe) single nucleotide variant Arteriohepatic dysplasia [RCV005002463] Chr20:10664000 [GRCh38]
Chr20:10644648 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.404T>A (p.Leu135His) single nucleotide variant Arteriohepatic dysplasia [RCV005002469] Chr20:10663998 [GRCh38]
Chr20:10644646 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.412G>T (p.Ala138Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002473] Chr20:10663990 [GRCh38]
Chr20:10644638 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.104T>G (p.Phe35Cys) single nucleotide variant Arteriohepatic dysplasia [RCV005002475] Chr20:10672984 [GRCh38]
Chr20:10653632 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.446A>T (p.Asp149Val) single nucleotide variant Arteriohepatic dysplasia [RCV005002479] Chr20:10658716 [GRCh38]
Chr20:10639364 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.492C>A (p.Ser164Arg) single nucleotide variant Arteriohepatic dysplasia [RCV005002486] Chr20:10658670 [GRCh38]
Chr20:10639318 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.524G>A (p.Gly175Asp) single nucleotide variant Arteriohepatic dysplasia [RCV005002490] Chr20:10658638 [GRCh38]
Chr20:10639286 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.523G>C (p.Gly175Arg) single nucleotide variant Arteriohepatic dysplasia [RCV005002491] Chr20:10658639 [GRCh38]
Chr20:10639287 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.536T>C (p.Phe179Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002493] Chr20:10658626 [GRCh38]
Chr20:10639274 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.32G>C (p.Gly11Ala) single nucleotide variant Arteriohepatic dysplasia [RCV005002495] Chr20:10673499 [GRCh38]
Chr20:10654147 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.551G>T (p.Arg184Leu) single nucleotide variant Arteriohepatic dysplasia [RCV005002497] Chr20:10658611 [GRCh38]
Chr20:10639259 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.554T>G (p.Val185Gly) single nucleotide variant Arteriohepatic dysplasia [RCV005002499] Chr20:10658608 [GRCh38]
Chr20:10639256 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.560G>T (p.Cys187Phe) single nucleotide variant Arteriohepatic dysplasia [RCV005002501] Chr20:10658602 [GRCh38]
Chr20:10639250 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.560G>A (p.Cys187Tyr) single nucleotide variant Arteriohepatic dysplasia [RCV005002502] Chr20:10658602 [GRCh38]
Chr20:10639250 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.571T>A (p.Tyr191Asn) single nucleotide variant Arteriohepatic dysplasia [RCV005002505] Chr20:10658591 [GRCh38]
Chr20:10639239 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.577G>A (p.Gly193Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002507] Chr20:10658585 [GRCh38]
Chr20:10639233 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.638A>T (p.Asp213Val) single nucleotide variant Arteriohepatic dysplasia [RCV005002516] Chr20:10658524 [GRCh38]
Chr20:10639172 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.658T>C (p.Cys220Arg) single nucleotide variant Arteriohepatic dysplasia [RCV005002520] Chr20:10658504 [GRCh38]
Chr20:10639152 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.759C>G (p.Cys253Trp) single nucleotide variant Arteriohepatic dysplasia [RCV005002531] Chr20:10652595 [GRCh38]
Chr20:10633243 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.758G>C (p.Cys253Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002532] Chr20:10652596 [GRCh38]
Chr20:10633244 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.964T>G (p.Cys322Gly) single nucleotide variant Arteriohepatic dysplasia [RCV005002370] Chr20:10652173 [GRCh38]
Chr20:10632821 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.56C>A (p.Ala19Asp) single nucleotide variant Arteriohepatic dysplasia [RCV005002381] Chr20:10673475 [GRCh38]
Chr20:10654123 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.59T>A (p.Leu20Gln) single nucleotide variant Arteriohepatic dysplasia [RCV005002382] Chr20:10673472 [GRCh38]
Chr20:10654120 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.64T>G (p.Cys22Gly) single nucleotide variant Arteriohepatic dysplasia [RCV005002384] Chr20:10673467 [GRCh38]
Chr20:10654115 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.79A>G (p.Lys27Glu) single nucleotide variant Arteriohepatic dysplasia [RCV005002389] Chr20:10673452 [GRCh38]
Chr20:10654100 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.127C>A (p.Gln43Lys) single nucleotide variant Arteriohepatic dysplasia [RCV005002410] Chr20:10672961 [GRCh38]
Chr20:10653609 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.137A>G (p.Asn46Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002417] Chr20:10672951 [GRCh38]
Chr20:10653599 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.158A>G (p.Asn53Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002422] Chr20:10672930 [GRCh38]
Chr20:10653578 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.160T>C (p.Cys54Arg) single nucleotide variant Arteriohepatic dysplasia [RCV005002423] Chr20:10672928 [GRCh38]
Chr20:10653576 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.336C>A (p.Ser112Arg) single nucleotide variant Arteriohepatic dysplasia [RCV005002440] Chr20:10672752 [GRCh38]
Chr20:10653400 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.391T>G (p.Ser131Ala) single nucleotide variant Arteriohepatic dysplasia [RCV005002460] Chr20:10664011 [GRCh38]
Chr20:10644659 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.405T>A (p.Leu135=) single nucleotide variant Arteriohepatic dysplasia [RCV005002467] Chr20:10663997 [GRCh38]
Chr20:10644645 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.403C>A (p.Leu135Ile) single nucleotide variant Arteriohepatic dysplasia [RCV005002470] Chr20:10663999 [GRCh38]
Chr20:10644647 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.420T>A (p.Asp140Glu) single nucleotide variant Arteriohepatic dysplasia [RCV005002476] Chr20:10663982 [GRCh38]
Chr20:10644630 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.108G>C (p.Glu36Asp) single nucleotide variant Arteriohepatic dysplasia [RCV005002496] Chr20:10672980 [GRCh38]
Chr20:10653628 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.554T>C (p.Val185Ala) single nucleotide variant Arteriohepatic dysplasia [RCV005002500] Chr20:10658608 [GRCh38]
Chr20:10639256 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.586T>C (p.Cys196Arg) single nucleotide variant Arteriohepatic dysplasia [RCV005002509] Chr20:10658576 [GRCh38]
Chr20:10639224 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.659G>C (p.Cys220Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002519] Chr20:10658503 [GRCh38]
Chr20:10639151 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.672G>C (p.Trp224Cys) single nucleotide variant Arteriohepatic dysplasia [RCV005002521] Chr20:10658490 [GRCh38]
Chr20:10639138 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.718C>T (p.Pro240Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002526] Chr20:10656435 [GRCh38]
Chr20:10637083 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.588C>G (p.Cys196Trp) single nucleotide variant Arteriohepatic dysplasia [RCV005002238] Chr20:10658574 [GRCh38]
Chr20:10639222 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.57C>G (p.Ala19=) single nucleotide variant Arteriohepatic dysplasia [RCV005002251] Chr20:10673474 [GRCh38]
Chr20:10654122 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.686G>A (p.Cys229Tyr) single nucleotide variant Arteriohepatic dysplasia [RCV005002254] Chr20:10658476 [GRCh38]
Chr20:10639124 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.795C>G (p.Cys265Trp) single nucleotide variant Arteriohepatic dysplasia [RCV005002267] Chr20:10652559 [GRCh38]
Chr20:10633207 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.811T>G (p.Cys271Gly) single nucleotide variant Arteriohepatic dysplasia [RCV005002275] Chr20:10652543 [GRCh38]
Chr20:10633191 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.62T>G (p.Leu21Arg) single nucleotide variant Arteriohepatic dysplasia [RCV005002277] Chr20:10673469 [GRCh38]
Chr20:10654117 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.817C>G (p.His273Asp) single nucleotide variant Arteriohepatic dysplasia [RCV005002280] Chr20:10652537 [GRCh38]
Chr20:10633185 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.825C>G (p.Ile275Met) single nucleotide variant Arteriohepatic dysplasia [RCV005002284] Chr20:10652529 [GRCh38]
Chr20:10633177 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.844T>G (p.Cys282Gly) single nucleotide variant Arteriohepatic dysplasia [RCV005002302] Chr20:10652510 [GRCh38]
Chr20:10633158 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.844T>A (p.Cys282Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002304] Chr20:10652510 [GRCh38]
Chr20:10633158 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.848T>C (p.Leu283Pro) single nucleotide variant Arteriohepatic dysplasia [RCV005002305] Chr20:10652506 [GRCh38]
Chr20:10633154 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.68C>A (p.Ala23Asp) single nucleotide variant Arteriohepatic dysplasia [RCV005002314] Chr20:10673463 [GRCh38]
Chr20:10654111 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.857C>T (p.Thr286Ile) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005112525]|Arteriohepatic dysplasia [RCV005002316] Chr20:10652497 [GRCh38]
Chr20:10633145 [GRCh37]
Chr20:20p12.2		 uncertain significance|not provided
NM_000214.3(JAG1):c.886G>T (p.Asp296Tyr) single nucleotide variant Arteriohepatic dysplasia [RCV005002333] Chr20:10652468 [GRCh38]
Chr20:10633116 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.71T>G (p.Leu24Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005112526]|Arteriohepatic dysplasia [RCV005002334] Chr20:10673460 [GRCh38]
Chr20:10654108 [GRCh37]
Chr20:20p12.2		 likely pathogenic|not provided
NM_000214.3(JAG1):c.892A>T (p.Asn298Tyr) single nucleotide variant Arteriohepatic dysplasia [RCV005002337] Chr20:10652245 [GRCh38]
Chr20:10632893 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.942C>A (p.Asn314Lys) single nucleotide variant Arteriohepatic dysplasia [RCV005002366] Chr20:10652195 [GRCh38]
Chr20:10632843 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.965G>A (p.Cys322Tyr) single nucleotide variant Arteriohepatic dysplasia [RCV005002369] Chr20:10652172 [GRCh38]
Chr20:10632820 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.63C>G (p.Leu21=) single nucleotide variant Arteriohepatic dysplasia [RCV005002383] Chr20:10673468 [GRCh38]
Chr20:10654116 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.92C>G (p.Ala31Gly) single nucleotide variant Arteriohepatic dysplasia [RCV005002394] Chr20:10672996 [GRCh38]
Chr20:10653644 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.126G>C (p.Met42Ile) single nucleotide variant Arteriohepatic dysplasia [RCV005002409] Chr20:10672962 [GRCh38]
Chr20:10653610 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.97G>C (p.Gly33Arg) single nucleotide variant Arteriohepatic dysplasia [RCV005002435] Chr20:10672991 [GRCh38]
Chr20:10653639 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.315C>A (p.Asn105Lys) single nucleotide variant Arteriohepatic dysplasia [RCV005002437] Chr20:10672773 [GRCh38]
Chr20:10653421 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.393C>T (p.Ser131=) single nucleotide variant Arteriohepatic dysplasia [RCV005002456] Chr20:10664009 [GRCh38]
Chr20:10644657 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.397A>T (p.Thr133Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005112527]|Arteriohepatic dysplasia [RCV005002461] Chr20:10664005 [GRCh38]
Chr20:10644653 [GRCh37]
Chr20:20p12.2		 uncertain significance|not provided
NM_000214.3(JAG1):c.397A>G (p.Thr133Ala) single nucleotide variant Arteriohepatic dysplasia [RCV005002462] Chr20:10664005 [GRCh38]
Chr20:10644653 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.455T>A (p.Ile152Asn) single nucleotide variant Arteriohepatic dysplasia [RCV005002480] Chr20:10658707 [GRCh38]
Chr20:10639355 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.104T>C (p.Phe35Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002484] Chr20:10672984 [GRCh38]
Chr20:10653632 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.564T>A (p.Asp188Glu) single nucleotide variant Arteriohepatic dysplasia [RCV005002503] Chr20:10658598 [GRCh38]
Chr20:10639246 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.637G>T (p.Asp213Tyr) single nucleotide variant Arteriohepatic dysplasia [RCV005002517] Chr20:10658525 [GRCh38]
Chr20:10639173 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.731C>A (p.Ser244Tyr) single nucleotide variant Arteriohepatic dysplasia [RCV005002527] Chr20:10656422 [GRCh38]
Chr20:10637070 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.2225T>C (p.Ile742Thr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005026840] Chr20:10645145 [GRCh38]
Chr20:10625793 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1773G>A (p.Val591=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005026844] Chr20:10647051 [GRCh38]
Chr20:10627699 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2414G>C (p.Arg805Pro) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005026838] Chr20:10643822 [GRCh38]
Chr20:10624470 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2069_2071del (p.Tyr690del) deletion Alagille syndrome due to a JAG1 point mutation [RCV005026842] Chr20:10645398..10645400 [GRCh38]
Chr20:10626046..10626048 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1336A>G (p.Asn446Asp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005026849] Chr20:10649534 [GRCh38]
Chr20:10630182 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1078T>C (p.Cys360Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005026851] Chr20:10651623 [GRCh38]
Chr20:10632271 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.167G>A (p.Gly56Asp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005026855] Chr20:10672921 [GRCh38]
Chr20:10653569 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.138dup (p.Gly47fs) duplication Alagille syndrome due to a JAG1 point mutation [RCV005026856] Chr20:10672949..10672950 [GRCh38]
Chr20:10653597..10653598 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.2461A>G (p.Ile821Val) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005032471] Chr20:10642599 [GRCh38]
Chr20:10623247 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1433G>C (p.Gly478Ala) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005032475] Chr20:10648685 [GRCh38]
Chr20:10629333 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1105C>T (p.Pro369Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005032478] Chr20:10651596 [GRCh38]
Chr20:10632244 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2419G>C (p.Glu807Gln) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005032472] Chr20:10643817 [GRCh38]
Chr20:10624465 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1885+20G>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005032473] Chr20:10646919 [GRCh38]
Chr20:10627567 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1638C>A (p.Asp546Glu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005032474] Chr20:10648042 [GRCh38]
Chr20:10628690 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1377G>T (p.Gln459His) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005032476] Chr20:10649079 [GRCh38]
Chr20:10629727 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.433A>T (p.Thr145Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005032481] Chr20:10663969 [GRCh38]
Chr20:10644617 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.50T>C (p.Leu17Pro) single nucleotide variant Arteriohepatic dysplasia [RCV005002201] Chr20:10673481 [GRCh38]
Chr20:10654129 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.499T>A (p.Trp167Arg) single nucleotide variant Arteriohepatic dysplasia [RCV005002216] Chr20:10658663 [GRCh38]
Chr20:10639311 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.503A>C (p.Gln168Pro) single nucleotide variant Arteriohepatic dysplasia [RCV005002217] Chr20:10658659 [GRCh38]
Chr20:10639307 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.541T>C (p.Tyr181His) single nucleotide variant Arteriohepatic dysplasia [RCV005002223] Chr20:10658621 [GRCh38]
Chr20:10639269 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.53T>C (p.Leu18Pro) single nucleotide variant Arteriohepatic dysplasia [RCV005002230] Chr20:10673478 [GRCh38]
Chr20:10654126 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.562G>T (p.Asp188Tyr) single nucleotide variant Arteriohepatic dysplasia [RCV005002235] Chr20:10658600 [GRCh38]
Chr20:10639248 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.686G>T (p.Cys229Phe) single nucleotide variant Arteriohepatic dysplasia [RCV005002253] Chr20:10658476 [GRCh38]
Chr20:10639124 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.28T>G (p.Ser10Ala) single nucleotide variant Arteriohepatic dysplasia [RCV005002296] Chr20:10673503 [GRCh38]
Chr20:10654151 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.845G>C (p.Cys282Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002300] Chr20:10652509 [GRCh38]
Chr20:10633157 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.850T>G (p.Cys284Gly) single nucleotide variant Arteriohepatic dysplasia [RCV005002308] Chr20:10652504 [GRCh38]
Chr20:10633152 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.854A>C (p.Glu285Ala) single nucleotide variant Arteriohepatic dysplasia [RCV005002313] Chr20:10652500 [GRCh38]
Chr20:10633148 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.861C>G (p.Asn287Lys) single nucleotide variant Arteriohepatic dysplasia [RCV005002318] Chr20:10652493 [GRCh38]
Chr20:10633141 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.868G>C (p.Gly290Arg) single nucleotide variant Arteriohepatic dysplasia [RCV005002326] Chr20:10652486 [GRCh38]
Chr20:10633134 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.896A>T (p.Tyr299Phe) single nucleotide variant Arteriohepatic dysplasia [RCV005002339] Chr20:10652241 [GRCh38]
Chr20:10632889 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.899G>T (p.Cys300Phe) single nucleotide variant Arteriohepatic dysplasia [RCV005002340] Chr20:10652238 [GRCh38]
Chr20:10632886 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.75A>G (p.Arg25=) single nucleotide variant Arteriohepatic dysplasia [RCV005002345] Chr20:10673456 [GRCh38]
Chr20:10654104 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.902G>C (p.Gly301Ala) single nucleotide variant Arteriohepatic dysplasia [RCV005002347] Chr20:10652235 [GRCh38]
Chr20:10632883 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.905C>T (p.Thr302Ile) single nucleotide variant Arteriohepatic dysplasia [RCV005002349] Chr20:10652232 [GRCh38]
Chr20:10632880 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.917G>T (p.Cys306Phe) single nucleotide variant Arteriohepatic dysplasia [RCV005002352] Chr20:10652220 [GRCh38]
Chr20:10632868 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.75A>C (p.Arg25=) single nucleotide variant Arteriohepatic dysplasia [RCV005002356] Chr20:10673456 [GRCh38]
Chr20:10654104 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.936T>G (p.Cys312Trp) single nucleotide variant Arteriohepatic dysplasia [RCV005002358] Chr20:10652201 [GRCh38]
Chr20:10632849 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.942C>G (p.Asn314Lys) single nucleotide variant Arteriohepatic dysplasia [RCV005002365] Chr20:10652195 [GRCh38]
Chr20:10632843 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.416G>C (p.Trp139Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002204] Chr20:10663986 [GRCh38]
Chr20:10644634 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.493C>A (p.Arg165=) single nucleotide variant Arteriohepatic dysplasia [RCV005002210] Chr20:10658669 [GRCh38]
Chr20:10639317 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.541T>G (p.Tyr181Asp) single nucleotide variant Arteriohepatic dysplasia [RCV005002222] Chr20:10658621 [GRCh38]
Chr20:10639269 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.541T>A (p.Tyr181Asn) single nucleotide variant Arteriohepatic dysplasia [RCV005002224] Chr20:10658621 [GRCh38]
Chr20:10639269 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.968C>G (p.Ser323Cys) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005023784]|Arteriohepatic dysplasia [RCV005002579] Chr20:10652169 [GRCh38]
Chr20:10632817 [GRCh37]
Chr20:20p12.2		 uncertain significance|not provided
NM_000214.3(JAG1):c.1499G>T (p.Gly500Val) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005026847] Chr20:10648619 [GRCh38]
Chr20:10629267 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.617T>A (p.Phe206Tyr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005026853] Chr20:10658545 [GRCh38]
Chr20:10639193 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.455T>C (p.Ile152Thr) single nucleotide variant Arteriohepatic dysplasia [RCV005002206] Chr20:10658707 [GRCh38]
Chr20:10639355 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.54C>G (p.Leu18=) single nucleotide variant Arteriohepatic dysplasia [RCV005002211] Chr20:10673477 [GRCh38]
Chr20:10654125 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.500G>C (p.Trp167Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002214] Chr20:10658662 [GRCh38]
Chr20:10639310 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.548T>G (p.Ile183Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002226] Chr20:10658614 [GRCh38]
Chr20:10639262 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.687T>G (p.Cys229Trp) single nucleotide variant Arteriohepatic dysplasia [RCV005002252] Chr20:10658475 [GRCh38]
Chr20:10639123 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.685T>A (p.Cys229Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002255] Chr20:10658477 [GRCh38]
Chr20:10639125 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.758G>T (p.Cys253Phe) single nucleotide variant Arteriohepatic dysplasia [RCV005002257] Chr20:10652596 [GRCh38]
Chr20:10633244 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.784T>C (p.Cys262Arg) single nucleotide variant Arteriohepatic dysplasia [RCV005002265] Chr20:10652570 [GRCh38]
Chr20:10633218 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.811T>A (p.Cys271Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002278] Chr20:10652543 [GRCh38]
Chr20:10633191 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.845G>A (p.Cys282Tyr) single nucleotide variant Arteriohepatic dysplasia [RCV005002301] Chr20:10652509 [GRCh38]
Chr20:10633157 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.860A>T (p.Asn287Ile) single nucleotide variant Arteriohepatic dysplasia [RCV005002320] Chr20:10652494 [GRCh38]
Chr20:10633142 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.888T>G (p.Asp296Glu) single nucleotide variant Arteriohepatic dysplasia [RCV005002331] Chr20:10652249 [GRCh38]
Chr20:10632897 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.917G>C (p.Cys306Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002353] Chr20:10652220 [GRCh38]
Chr20:10632868 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.935G>A (p.Cys312Tyr) single nucleotide variant Arteriohepatic dysplasia [RCV005002361] Chr20:10652202 [GRCh38]
Chr20:10632850 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.934T>A (p.Cys312Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002364] Chr20:10652203 [GRCh38]
Chr20:10632851 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.92C>A (p.Ala31Asp) single nucleotide variant Arteriohepatic dysplasia [RCV005002397] Chr20:10672996 [GRCh38]
Chr20:10653644 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.99T>G (p.Gly33=) single nucleotide variant Arteriohepatic dysplasia [RCV005002399] Chr20:10672989 [GRCh38]
Chr20:10653637 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.133G>C (p.Val45Leu) single nucleotide variant Arteriohepatic dysplasia [RCV005002414] Chr20:10672955 [GRCh38]
Chr20:10653603 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.94T>C (p.Ser32Pro) single nucleotide variant Arteriohepatic dysplasia [RCV005002416] Chr20:10672994 [GRCh38]
Chr20:10653642 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.153C>A (p.Asn51Lys) single nucleotide variant Arteriohepatic dysplasia [RCV005002420] Chr20:10672935 [GRCh38]
Chr20:10653583 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.233G>T (p.Cys78Phe) single nucleotide variant Arteriohepatic dysplasia [RCV005002430] Chr20:10672855 [GRCh38]
Chr20:10653503 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.372C>A (p.Phe124Leu) single nucleotide variant Arteriohepatic dysplasia [RCV005002448] Chr20:10672716 [GRCh38]
Chr20:10653364 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.371T>G (p.Phe124Cys) single nucleotide variant Arteriohepatic dysplasia [RCV005002449] Chr20:10672717 [GRCh38]
Chr20:10653365 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.371T>A (p.Phe124Tyr) single nucleotide variant Arteriohepatic dysplasia [RCV005002450] Chr20:10672717 [GRCh38]
Chr20:10653365 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.374G>A (p.Ser125Asn) single nucleotide variant Arteriohepatic dysplasia [RCV005002451] Chr20:10672714 [GRCh38]
Chr20:10653362 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.377T>A (p.Phe126Tyr) single nucleotide variant Arteriohepatic dysplasia [RCV005002453] Chr20:10672711 [GRCh38]
Chr20:10653359 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.386C>A (p.Pro129Gln) single nucleotide variant Arteriohepatic dysplasia [RCV005002454] Chr20:10672702 [GRCh38]
Chr20:10653350 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.105C>G (p.Phe35Leu) single nucleotide variant Arteriohepatic dysplasia [RCV005002465] Chr20:10672983 [GRCh38]
Chr20:10653631 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.432C>A (p.Asp144Glu) single nucleotide variant Arteriohepatic dysplasia [RCV005002478] Chr20:10663970 [GRCh38]
Chr20:10644618 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.468T>A (p.Ser156=) single nucleotide variant Arteriohepatic dysplasia [RCV005002482] Chr20:10658694 [GRCh38]
Chr20:10639342 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.506C>A (p.Thr169Lys) single nucleotide variant Arteriohepatic dysplasia [RCV005002488] Chr20:10658656 [GRCh38]
Chr20:10639304 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.548T>C (p.Ile183Thr) single nucleotide variant Arteriohepatic dysplasia [RCV005002494] Chr20:10658614 [GRCh38]
Chr20:10639262 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.591T>A (p.Asn197Lys) single nucleotide variant Arteriohepatic dysplasia [RCV005002510] Chr20:10658571 [GRCh38]
Chr20:10639219 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.632C>A (p.Ala211Asp) single nucleotide variant Arteriohepatic dysplasia [RCV005002514] Chr20:10658530 [GRCh38]
Chr20:10639178 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.758G>A (p.Cys253Tyr) single nucleotide variant Arteriohepatic dysplasia [RCV005002533] Chr20:10652596 [GRCh38]
Chr20:10633244 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.23G>C (p.Gly8Ala) single nucleotide variant Arteriohepatic dysplasia [RCV005002200] Chr20:10673508 [GRCh38]
Chr20:10654156 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.412G>C (p.Ala138Pro) single nucleotide variant Arteriohepatic dysplasia [RCV005002203] Chr20:10663990 [GRCh38]
Chr20:10644638 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.442C>A (p.Pro148Thr) single nucleotide variant Arteriohepatic dysplasia [RCV005002205] Chr20:10658720 [GRCh38]
Chr20:10639368 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.488C>A (p.Pro163His) single nucleotide variant Arteriohepatic dysplasia [RCV005002209] Chr20:10658674 [GRCh38]
Chr20:10639322 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.500G>T (p.Trp167Leu) single nucleotide variant Arteriohepatic dysplasia [RCV005002213] Chr20:10658662 [GRCh38]
Chr20:10639310 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.499T>G (p.Trp167Gly) single nucleotide variant Arteriohepatic dysplasia [RCV005002215] Chr20:10658663 [GRCh38]
Chr20:10639311 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.534C>A (p.His178Gln) single nucleotide variant Arteriohepatic dysplasia [RCV005002220] Chr20:10658628 [GRCh38]
Chr20:10639276 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.542A>C (p.Tyr181Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002221] Chr20:10658620 [GRCh38]
Chr20:10639268 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.548T>A (p.Ile183Asn) single nucleotide variant Arteriohepatic dysplasia [RCV005002227] Chr20:10658614 [GRCh38]
Chr20:10639262 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.550C>G (p.Arg184Gly) single nucleotide variant Arteriohepatic dysplasia [RCV005002228] Chr20:10658612 [GRCh38]
Chr20:10639260 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.550C>A (p.Arg184Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002229] Chr20:10658612 [GRCh38]
Chr20:10639260 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.556A>C (p.Thr186Pro) single nucleotide variant Arteriohepatic dysplasia [RCV005002231] Chr20:10658606 [GRCh38]
Chr20:10639254 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.587G>T (p.Cys196Phe) single nucleotide variant Arteriohepatic dysplasia [RCV005002239] Chr20:10658575 [GRCh38]
Chr20:10639223 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.587G>C (p.Cys196Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002240] Chr20:10658575 [GRCh38]
Chr20:10639223 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.658T>A (p.Cys220Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002248] Chr20:10658504 [GRCh38]
Chr20:10639152 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.59T>G (p.Leu20Arg) single nucleotide variant Arteriohepatic dysplasia [RCV005002259] Chr20:10673472 [GRCh38]
Chr20:10654120 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.775G>T (p.Gly259Cys) single nucleotide variant Arteriohepatic dysplasia [RCV005002263] Chr20:10652579 [GRCh38]
Chr20:10633227 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.785G>T (p.Cys262Phe) single nucleotide variant Arteriohepatic dysplasia [RCV005002264] Chr20:10652569 [GRCh38]
Chr20:10633217 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.784T>A (p.Cys262Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002266] Chr20:10652570 [GRCh38]
Chr20:10633218 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.58C>G (p.Leu20Val) single nucleotide variant Arteriohepatic dysplasia [RCV005002268] Chr20:10673473 [GRCh38]
Chr20:10654121 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.812G>T (p.Cys271Phe) single nucleotide variant Arteriohepatic dysplasia [RCV005002272] Chr20:10652542 [GRCh38]
Chr20:10633190 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.3289C>G (p.Arg1097Gly) single nucleotide variant not provided [RCV005004502] Chr20:10639866 [GRCh38]
Chr20:10620514 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3472G>A (p.Glu1158Lys) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005026834] Chr20:10639683 [GRCh38]
Chr20:10620331 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3109G>C (p.Asp1037His) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005026835] Chr20:10640873 [GRCh38]
Chr20:10621521 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3048+7A>G single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005026836] Chr20:10641106 [GRCh38]
Chr20:10621754 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1570-14C>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005026846] Chr20:10648124 [GRCh38]
Chr20:10628772 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1865C>A (p.Thr622Lys) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005112516]|not provided [RCV005001514] Chr20:10646959 [GRCh38]
Chr20:10627607 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.818A>C (p.His273Pro) single nucleotide variant Arteriohepatic dysplasia [RCV005002279] Chr20:10652536 [GRCh38]
Chr20:10633184 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.821G>T (p.Gly274Val) single nucleotide variant Arteriohepatic dysplasia [RCV005002281] Chr20:10652533 [GRCh38]
Chr20:10633181 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.821G>C (p.Gly274Ala) single nucleotide variant Arteriohepatic dysplasia [RCV005002282] Chr20:10652533 [GRCh38]
Chr20:10633181 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.824T>G (p.Ile275Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002285] Chr20:10652530 [GRCh38]
Chr20:10633178 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.824T>A (p.Ile275Asn) single nucleotide variant Arteriohepatic dysplasia [RCV005002287] Chr20:10652530 [GRCh38]
Chr20:10633178 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.823A>T (p.Ile275Phe) single nucleotide variant Arteriohepatic dysplasia [RCV005002288] Chr20:10652531 [GRCh38]
Chr20:10633179 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.827G>T (p.Cys276Phe) single nucleotide variant Arteriohepatic dysplasia [RCV005002291] Chr20:10652527 [GRCh38]
Chr20:10633175 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.826T>G (p.Cys276Gly) single nucleotide variant Arteriohepatic dysplasia [RCV005002292] Chr20:10652528 [GRCh38]
Chr20:10633176 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.831T>G (p.Asn277Lys) single nucleotide variant Arteriohepatic dysplasia [RCV005002294] Chr20:10652523 [GRCh38]
Chr20:10633171 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.846C>G (p.Cys282Trp) single nucleotide variant Arteriohepatic dysplasia [RCV005002298] Chr20:10652508 [GRCh38]
Chr20:10633156 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.845G>T (p.Cys282Phe) single nucleotide variant Arteriohepatic dysplasia [RCV005002299] Chr20:10652509 [GRCh38]
Chr20:10633157 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.844T>C (p.Cys282Arg) single nucleotide variant Arteriohepatic dysplasia [RCV005002303] Chr20:10652510 [GRCh38]
Chr20:10633158 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.850T>A (p.Cys284Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002309] Chr20:10652504 [GRCh38]
Chr20:10633152 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.854A>T (p.Glu285Val) single nucleotide variant Arteriohepatic dysplasia [RCV005002312] Chr20:10652500 [GRCh38]
Chr20:10633148 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.853G>A (p.Glu285Lys) single nucleotide variant Arteriohepatic dysplasia [RCV005002315] Chr20:10652501 [GRCh38]
Chr20:10633149 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.859A>T (p.Asn287Tyr) single nucleotide variant Arteriohepatic dysplasia [RCV005002321] Chr20:10652495 [GRCh38]
Chr20:10633143 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.864G>C (p.Trp288Cys) single nucleotide variant Arteriohepatic dysplasia [RCV005002322] Chr20:10652490 [GRCh38]
Chr20:10633138 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.863G>C (p.Trp288Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002323] Chr20:10652491 [GRCh38]
Chr20:10633139 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.879T>G (p.Cys293Trp) single nucleotide variant Arteriohepatic dysplasia [RCV005002327] Chr20:10652475 [GRCh38]
Chr20:10633123 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.893A>T (p.Asn298Ile) single nucleotide variant Arteriohepatic dysplasia [RCV005002335] Chr20:10652244 [GRCh38]
Chr20:10632892 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.893A>G (p.Asn298Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002336] Chr20:10652244 [GRCh38]
Chr20:10632892 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.892A>C (p.Asn298His) single nucleotide variant Arteriohepatic dysplasia [RCV005002338] Chr20:10652245 [GRCh38]
Chr20:10632893 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.898T>A (p.Cys300Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002344] Chr20:10652239 [GRCh38]
Chr20:10632887 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.917G>A (p.Cys306Tyr) single nucleotide variant Arteriohepatic dysplasia [RCV005002354] Chr20:10652220 [GRCh38]
Chr20:10632868 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.916T>C (p.Cys306Arg) single nucleotide variant Arteriohepatic dysplasia [RCV005002355] Chr20:10652221 [GRCh38]
Chr20:10632869 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.916T>A (p.Cys306Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002357] Chr20:10652221 [GRCh38]
Chr20:10632869 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.84G>C (p.Val28=) single nucleotide variant Arteriohepatic dysplasia [RCV005002367] Chr20:10673004 [GRCh38]
Chr20:10653652 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.971G>T (p.Cys324Phe) single nucleotide variant Arteriohepatic dysplasia [RCV005002373] Chr20:10652166 [GRCh38]
Chr20:10632814 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.970T>C (p.Cys324Arg) single nucleotide variant Arteriohepatic dysplasia [RCV005002374] Chr20:10652167 [GRCh38]
Chr20:10632815 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.31G>C (p.Gly11Arg) single nucleotide variant Arteriohepatic dysplasia [RCV005002376] Chr20:10673500 [GRCh38]
Chr20:10654148 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.89G>C (p.Gly30Ala) single nucleotide variant Arteriohepatic dysplasia [RCV005002377] Chr20:10672999 [GRCh38]
Chr20:10653647 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.43A>C (p.Ser15Arg) single nucleotide variant Arteriohepatic dysplasia [RCV005002379] Chr20:10673488 [GRCh38]
Chr20:10654136 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.724C>T (p.His242Tyr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005026852] Chr20:10656429 [GRCh38]
Chr20:10637077 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.542A>G (p.Tyr181Cys) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005026854] Chr20:10658620 [GRCh38]
Chr20:10639268 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.-18GCGGCGC[1] microsatellite Alagille syndrome due to a JAG1 point mutation [RCV005026857] Chr20:10673535..10673541 [GRCh38]
Chr20:10654183..10654189 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.69C>G (p.Ala23=) single nucleotide variant Arteriohepatic dysplasia [RCV005002385] Chr20:10673462 [GRCh38]
Chr20:10654110 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.78C>G (p.Ala26=) single nucleotide variant Arteriohepatic dysplasia [RCV005002387] Chr20:10673453 [GRCh38]
Chr20:10654101 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.77C>G (p.Ala26Gly) single nucleotide variant Arteriohepatic dysplasia [RCV005002388] Chr20:10673454 [GRCh38]
Chr20:10654102 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.82G>A (p.Val28Met) single nucleotide variant Arteriohepatic dysplasia [RCV005002391] Chr20:10673006 [GRCh38]
Chr20:10653654 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.85T>C (p.Cys29Arg) single nucleotide variant Arteriohepatic dysplasia [RCV005002392] Chr20:10673003 [GRCh38]
Chr20:10653651 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.90G>C (p.Gly30=) single nucleotide variant Arteriohepatic dysplasia [RCV005002393] Chr20:10672998 [GRCh38]
Chr20:10653646 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.103T>C (p.Phe35Leu) single nucleotide variant Arteriohepatic dysplasia [RCV005002402] Chr20:10672985 [GRCh38]
Chr20:10653633 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.131A>G (p.Asn44Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002411] Chr20:10672957 [GRCh38]
Chr20:10653605 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.130A>G (p.Asn44Asp) single nucleotide variant Arteriohepatic dysplasia [RCV005002412] Chr20:10672958 [GRCh38]
Chr20:10653606 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.166G>C (p.Gly56Arg) single nucleotide variant Arteriohepatic dysplasia [RCV005002425] Chr20:10672922 [GRCh38]
Chr20:10653570 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.98G>C (p.Gly33Ala) single nucleotide variant Arteriohepatic dysplasia [RCV005002426] Chr20:10672990 [GRCh38]
Chr20:10653638 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.224T>A (p.Phe75Tyr) single nucleotide variant Arteriohepatic dysplasia [RCV005002428] Chr20:10672864 [GRCh38]
Chr20:10653512 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.250T>A (p.Ser84Thr) single nucleotide variant Arteriohepatic dysplasia [RCV005002432] Chr20:10672838 [GRCh38]
Chr20:10653486 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.321C>A (p.Phe107Leu) single nucleotide variant Arteriohepatic dysplasia [RCV005002439] Chr20:10672767 [GRCh38]
Chr20:10653415 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.337C>A (p.Arg113Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002441] Chr20:10672751 [GRCh38]
Chr20:10653399 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.359T>G (p.Ile120Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002444] Chr20:10672729 [GRCh38]
Chr20:10653377 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.362T>A (p.Val121Glu) single nucleotide variant Arteriohepatic dysplasia [RCV005002445] Chr20:10672726 [GRCh38]
Chr20:10653374 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.367C>A (p.Pro123Thr) single nucleotide variant Arteriohepatic dysplasia [RCV005002446] Chr20:10672721 [GRCh38]
Chr20:10653369 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.378C>G (p.Phe126Leu) single nucleotide variant Arteriohepatic dysplasia [RCV005002452] Chr20:10672710 [GRCh38]
Chr20:10653358 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.393C>G (p.Ser131=) single nucleotide variant Arteriohepatic dysplasia [RCV005002457] Chr20:10664009 [GRCh38]
Chr20:10644657 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.400T>A (p.Leu134Met) single nucleotide variant Arteriohepatic dysplasia [RCV005002464] Chr20:10664002 [GRCh38]
Chr20:10644650 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.405T>G (p.Leu135=) single nucleotide variant Arteriohepatic dysplasia [RCV005002466] Chr20:10663997 [GRCh38]
Chr20:10644645 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.404T>C (p.Leu135Pro) single nucleotide variant Arteriohepatic dysplasia [RCV005002468] Chr20:10663998 [GRCh38]
Chr20:10644646 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.407T>C (p.Val136Ala) single nucleotide variant Arteriohepatic dysplasia [RCV005002471] Chr20:10663995 [GRCh38]
Chr20:10644643 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.412G>A (p.Ala138Thr) single nucleotide variant Arteriohepatic dysplasia [RCV005002474] Chr20:10663990 [GRCh38]
Chr20:10644638 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.475G>C (p.Gly159Arg) single nucleotide variant Arteriohepatic dysplasia [RCV005002485] Chr20:10658687 [GRCh38]
Chr20:10639335 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.501G>C (p.Trp167Cys) single nucleotide variant Arteriohepatic dysplasia [RCV005002487] Chr20:10658661 [GRCh38]
Chr20:10639309 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.516G>T (p.Gln172His) single nucleotide variant Arteriohepatic dysplasia [RCV005002489] Chr20:10658646 [GRCh38]
Chr20:10639294 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.572A>G (p.Tyr191Cys) single nucleotide variant Arteriohepatic dysplasia [RCV005002504] Chr20:10658590 [GRCh38]
Chr20:10639238 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.107A>G (p.Glu36Gly) single nucleotide variant Arteriohepatic dysplasia [RCV005002506] Chr20:10672981 [GRCh38]
Chr20:10653629 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.595T>A (p.Phe199Ile) single nucleotide variant Arteriohepatic dysplasia [RCV005002511] Chr20:10658567 [GRCh38]
Chr20:10639215 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.618C>A (p.Phe206Leu) single nucleotide variant Arteriohepatic dysplasia [RCV005002512] Chr20:10658544 [GRCh38]
Chr20:10639192 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.625C>G (p.His209Asp) single nucleotide variant Arteriohepatic dysplasia [RCV005002513] Chr20:10658537 [GRCh38]
Chr20:10639185 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.635G>T (p.Cys212Phe) single nucleotide variant Arteriohepatic dysplasia [RCV005002515] Chr20:10658527 [GRCh38]
Chr20:10639175 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.685T>C (p.Cys229Arg) single nucleotide variant Arteriohepatic dysplasia [RCV005002522] Chr20:10658477 [GRCh38]
Chr20:10639125 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.695C>A (p.Ala232Asp) single nucleotide variant Arteriohepatic dysplasia [RCV005002523] Chr20:10656458 [GRCh38]
Chr20:10637106 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.697A>T (p.Ile233Phe) single nucleotide variant Arteriohepatic dysplasia [RCV005002524] Chr20:10656456 [GRCh38]
Chr20:10637104 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.114G>C (p.Glu38Asp) single nucleotide variant Arteriohepatic dysplasia [RCV005002534] Chr20:10672974 [GRCh38]
Chr20:10653622 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.2173G>A (p.Asp725Asn) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005026841] Chr20:10645197 [GRCh38]
Chr20:10625845 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.561T>G (p.Cys187Trp) single nucleotide variant Arteriohepatic dysplasia [RCV005002232] Chr20:10658601 [GRCh38]
Chr20:10639249 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.560G>C (p.Cys187Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002233] Chr20:10658602 [GRCh38]
Chr20:10639250 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.624A>T (p.Gly208=) single nucleotide variant Arteriohepatic dysplasia [RCV005002243] Chr20:10658538 [GRCh38]
Chr20:10639186 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.639C>A (p.Asp213Glu) single nucleotide variant Arteriohepatic dysplasia [RCV005002244] Chr20:10658523 [GRCh38]
Chr20:10639171 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.766G>T (p.Gly256Cys) single nucleotide variant Arteriohepatic dysplasia [RCV005002261] Chr20:10652588 [GRCh38]
Chr20:10633236 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.794G>C (p.Cys265Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002270] Chr20:10652560 [GRCh38]
Chr20:10633208 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.812G>C (p.Cys271Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002273] Chr20:10652542 [GRCh38]
Chr20:10633190 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.826T>A (p.Cys276Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002293] Chr20:10652528 [GRCh38]
Chr20:10633176 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.65G>C (p.Cys22Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002306] Chr20:10673466 [GRCh38]
Chr20:10654114 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.852T>G (p.Cys284Trp) single nucleotide variant Arteriohepatic dysplasia [RCV005002307] Chr20:10652502 [GRCh38]
Chr20:10633150 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.855G>T (p.Glu285Asp) single nucleotide variant Arteriohepatic dysplasia [RCV005002310] Chr20:10652499 [GRCh38]
Chr20:10633147 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.857C>A (p.Thr286Asn) single nucleotide variant Arteriohepatic dysplasia [RCV005002317] Chr20:10652497 [GRCh38]
Chr20:10633145 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.861C>A (p.Asn287Lys) single nucleotide variant Arteriohepatic dysplasia [RCV005002319] Chr20:10652493 [GRCh38]
Chr20:10633141 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.877T>A (p.Cys293Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002330] Chr20:10652477 [GRCh38]
Chr20:10633125 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.888T>A (p.Asp296Glu) single nucleotide variant Arteriohepatic dysplasia [RCV005002332] Chr20:10652249 [GRCh38]
Chr20:10632897 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.901G>C (p.Gly301Arg) single nucleotide variant Arteriohepatic dysplasia [RCV005002348] Chr20:10652236 [GRCh38]
Chr20:10632884 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.918T>G (p.Cys306Trp) single nucleotide variant Arteriohepatic dysplasia [RCV005002351] Chr20:10652219 [GRCh38]
Chr20:10632867 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.964T>C (p.Cys322Arg) single nucleotide variant Arteriohepatic dysplasia [RCV005002371] Chr20:10652173 [GRCh38]
Chr20:10632821 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.127C>G (p.Gln43Glu) single nucleotide variant Arteriohepatic dysplasia [RCV005002195]|Cardiovascular phenotype [RCV004991810] Chr20:10672961 [GRCh38]
Chr20:10653609 [GRCh37]
Chr20:20p12.2		 uncertain significance|not provided
NM_000214.3(JAG1):c.967T>C (p.Ser323Pro) single nucleotide variant Arteriohepatic dysplasia [RCV005002372] Chr20:10652170 [GRCh38]
Chr20:10632818 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.998G>C (p.Cys333Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002375] Chr20:10652139 [GRCh38]
Chr20:10632787 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.88G>C (p.Gly30Arg) single nucleotide variant Arteriohepatic dysplasia [RCV005002386] Chr20:10673000 [GRCh38]
Chr20:10653648 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.33G>C (p.Gly11=) single nucleotide variant Arteriohepatic dysplasia [RCV005002396] Chr20:10673498 [GRCh38]
Chr20:10654146 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.104T>A (p.Phe35Tyr) single nucleotide variant Arteriohepatic dysplasia [RCV005002401] Chr20:10672984 [GRCh38]
Chr20:10653632 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.149A>C (p.Gln50Pro) single nucleotide variant Arteriohepatic dysplasia [RCV005002419] Chr20:10672939 [GRCh38]
Chr20:10653587 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.152A>G (p.Asn51Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002421] Chr20:10672936 [GRCh38]
Chr20:10653584 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.318C>A (p.Thr106=) single nucleotide variant Arteriohepatic dysplasia [RCV005002438] Chr20:10672770 [GRCh38]
Chr20:10653418 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.344A>G (p.Asn115Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002442] Chr20:10672744 [GRCh38]
Chr20:10653392 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.392C>T (p.Ser131Phe) single nucleotide variant Arteriohepatic dysplasia [RCV005002458] Chr20:10664010 [GRCh38]
Chr20:10644658 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.411G>A (p.Glu137=) single nucleotide variant Arteriohepatic dysplasia [RCV005002472] Chr20:10663991 [GRCh38]
Chr20:10644639 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.426T>A (p.Ser142Arg) single nucleotide variant Arteriohepatic dysplasia [RCV005002477] Chr20:10663976 [GRCh38]
Chr20:10644624 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.462G>A (p.Lys154=) single nucleotide variant Arteriohepatic dysplasia [RCV005002481] Chr20:10658700 [GRCh38]
Chr20:10639348 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.477C>A (p.Gly159=) single nucleotide variant Arteriohepatic dysplasia [RCV005002483] Chr20:10658685 [GRCh38]
Chr20:10639333 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.528T>C (p.Val176=) single nucleotide variant Arteriohepatic dysplasia [RCV005002492] Chr20:10658634 [GRCh38]
Chr20:10639282 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.551G>C (p.Arg184Pro) single nucleotide variant Arteriohepatic dysplasia [RCV005002498] Chr20:10658611 [GRCh38]
Chr20:10639259 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.586T>G (p.Cys196Gly) single nucleotide variant Arteriohepatic dysplasia [RCV005002508] Chr20:10658576 [GRCh38]
Chr20:10639224 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.646G>A (p.Gly216Ser) single nucleotide variant Arteriohepatic dysplasia [RCV005002518] Chr20:10658516 [GRCh38]
Chr20:10639164 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.710G>T (p.Gly237Val) single nucleotide variant Arteriohepatic dysplasia [RCV005002525] Chr20:10656443 [GRCh38]
Chr20:10637091 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.730T>A (p.Ser244Thr) single nucleotide variant Arteriohepatic dysplasia [RCV005002528] Chr20:10656423 [GRCh38]
Chr20:10637071 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.734G>T (p.Cys245Phe) single nucleotide variant Arteriohepatic dysplasia [RCV005002529] Chr20:10656419 [GRCh38]
Chr20:10637067 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.748G>C (p.Asp250His) single nucleotide variant Arteriohepatic dysplasia [RCV005002530] Chr20:10656405 [GRCh38]
Chr20:10637053 [GRCh37]
Chr20:20p12.2		 not provided
NM_000214.3(JAG1):c.96G>C (p.Ser32=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005023783]|Arteriohepatic dysplasia [RCV005002406] Chr20:10672992 [GRCh38]
Chr20:10653640 [GRCh37]
Chr20:20p12.2		 uncertain significance|not provided
NM_000214.3(JAG1):c.2096_2097dup (p.Lys700fs) duplication Alagille syndrome due to a JAG1 point mutation [RCV005135470] Chr20:10645371..10645372 [GRCh38]
Chr20:10626019..10626020 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1404dup (p.Asn469Ter) duplication Alagille syndrome due to a JAG1 point mutation [RCV005139153] Chr20:10648713..10648714 [GRCh38]
Chr20:10629361..10629362 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3215dup (p.Leu1072fs) duplication Alagille syndrome due to a JAG1 point mutation [RCV005132700] Chr20:10639939..10639940 [GRCh38]
Chr20:10620587..10620588 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3263C>A (p.Ala1088Asp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005143337] Chr20:10639892 [GRCh38]
Chr20:10620540 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3200-13G>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005141260] Chr20:10639968 [GRCh38]
Chr20:10620616 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1520A>G (p.Asn507Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005085250] Chr20:10648598 [GRCh38]
Chr20:10629246 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1165T>C (p.Cys389Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005127920] Chr20:10650316 [GRCh38]
Chr20:10630964 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1253C>A (p.Ala418Asp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005137413] Chr20:10649617 [GRCh38]
Chr20:10630265 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.81+20C>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005134073] Chr20:10673430 [GRCh38]
Chr20:10654078 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1823A>G (p.Gln608Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005066514] Chr20:10647001 [GRCh38]
Chr20:10627649 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.1999+1G>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005124513] Chr20:10645970 [GRCh38]
Chr20:10626618 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.3372C>T (p.Asn1124=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005138349] Chr20:10639783 [GRCh38]
Chr20:10620431 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1602C>A (p.Cys534Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005129457] Chr20:10648078 [GRCh38]
Chr20:10628726 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2084dup (p.Asn695fs) duplication Alagille syndrome due to a JAG1 point mutation [RCV005138498] Chr20:10645384..10645385 [GRCh38]
Chr20:10626032..10626033 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2465A>G (p.Asn822Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005142252] Chr20:10642595 [GRCh38]
Chr20:10623243 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2421A>G (p.Glu807=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005139063] Chr20:10643815 [GRCh38]
Chr20:10624463 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.126G>A (p.Met42Ile) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005066682] Chr20:10672962 [GRCh38]
Chr20:10653610 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.736A>G (p.Lys246Glu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005136244] Chr20:10656417 [GRCh38]
Chr20:10637065 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1305C>T (p.Tyr435=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005130792] Chr20:10649565 [GRCh38]
Chr20:10630213 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1120A>G (p.Asn374Asp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005085915] Chr20:10651581 [GRCh38]
Chr20:10632229 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1569+1G>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005116624] Chr20:10648548 [GRCh38]
Chr20:10629196 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.243del (p.Glu81fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV005116918] Chr20:10672845 [GRCh38]
Chr20:10653493 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2344+11T>G single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005087774] Chr20:10644852 [GRCh38]
Chr20:10625500 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3335C>G (p.Thr1112Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005066103] Chr20:10639820 [GRCh38]
Chr20:10620468 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.664dup (p.Glu222fs) duplication Alagille syndrome due to a JAG1 point mutation [RCV005130754] Chr20:10658497..10658498 [GRCh38]
Chr20:10639145..10639146 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2345-14T>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005085343] Chr20:10644398 [GRCh38]
Chr20:10625046 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3474G>T (p.Glu1158Asp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005125769] Chr20:10639681 [GRCh38]
Chr20:10620329 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2117A>T (p.Asp706Val) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005131170] Chr20:10645253 [GRCh38]
Chr20:10625901 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1725T>C (p.Ile575=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005114439] Chr20:10647099 [GRCh38]
Chr20:10627747 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1570-2A>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005132004] Chr20:10648112 [GRCh38]
Chr20:10628760 [GRCh37]
Chr20:20p12.2		 likely pathogenic
NM_000214.3(JAG1):c.1886-20dup duplication Alagille syndrome due to a JAG1 point mutation [RCV005085396] Chr20:10646103..10646104 [GRCh38]
Chr20:10626751..10626752 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.2227+18G>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005086467] Chr20:10645125 [GRCh38]
Chr20:10625773 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.379G>T (p.Ala127Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005126700] Chr20:10672709 [GRCh38]
Chr20:10653357 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2992dup (p.Ile998fs) duplication Alagille syndrome due to a JAG1 point mutation [RCV005088322] Chr20:10641168..10641169 [GRCh38]
Chr20:10621816..10621817 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.387+11_387+13del microsatellite Alagille syndrome due to a JAG1 point mutation [RCV005086836] Chr20:10672688..10672690 [GRCh38]
Chr20:10653336..10653338 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1605G>A (p.Gln535=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005111670] Chr20:10648075 [GRCh38]
Chr20:10628723 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1558A>C (p.Asn520His) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005124726] Chr20:10648560 [GRCh38]
Chr20:10629208 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1806_1812del (p.Gly603fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV005127353] Chr20:10647012..10647018 [GRCh38]
Chr20:10627660..10627666 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3071A>G (p.Asp1024Gly) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005132870] Chr20:10640911 [GRCh38]
Chr20:10621559 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1721-7C>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005135553] Chr20:10647110 [GRCh38]
Chr20:10627758 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3636C>A (p.Asn1212Lys) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005114769] Chr20:10639519 [GRCh38]
Chr20:10620167 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.159C>A (p.Asn53Lys) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005150926] Chr20:10672929 [GRCh38]
Chr20:10653577 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.942C>T (p.Asn314=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005144312] Chr20:10652195 [GRCh38]
Chr20:10632843 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3042_3043insAAATGGATACATTCCTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGACCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAATACATGTG (p.Ala1015delinsLysTrpIleHisSerSerThrHisThrLeuSerGlnAspTer) microsatellite Alagille syndrome due to a JAG1 point mutation [RCV005199602] Chr20:10641118..10641119 [GRCh38]
Chr20:10621766..10621767 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3349G>A (p.Glu1117Lys) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005184203] Chr20:10639806 [GRCh38]
Chr20:10620454 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2459-18G>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005149274] Chr20:10642619 [GRCh38]
Chr20:10623267 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.954C>T (p.Asp318=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005078824] Chr20:10652183 [GRCh38]
Chr20:10632831 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.3023C>T (p.Ala1008Val) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005186473] Chr20:10641138 [GRCh38]
Chr20:10621786 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2836A>G (p.Thr946Ala) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005195072] Chr20:10641540 [GRCh38]
Chr20:10622188 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.376T>G (p.Phe126Val) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005195076] Chr20:10672712 [GRCh38]
Chr20:10653360 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.456T>C (p.Ile152=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005202209] Chr20:10658706 [GRCh38]
Chr20:10639354 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1763del (p.Pro588fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV005196094] Chr20:10647061 [GRCh38]
Chr20:10627709 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3643G>C (p.Glu1215Gln) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005147700] Chr20:10639512 [GRCh38]
Chr20:10620160 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.413C>T (p.Ala138Val) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005176338] Chr20:10663989 [GRCh38]
Chr20:10644637 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1984G>T (p.Ala662Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005081605] Chr20:10645986 [GRCh38]
Chr20:10626634 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3038A>G (p.His1013Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005077818] Chr20:10641123 [GRCh38]
Chr20:10621771 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.337C>G (p.Arg113Gly) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005183472] Chr20:10672751 [GRCh38]
Chr20:10653399 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2922dup (p.Thr975fs) duplication Alagille syndrome due to a JAG1 point mutation [RCV005200037] Chr20:10641238..10641239 [GRCh38]
Chr20:10621886..10621887 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3458A>G (p.Asn1153Ser) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005159342] Chr20:10639697 [GRCh38]
Chr20:10620345 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1886-3T>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005202421] Chr20:10646087 [GRCh38]
Chr20:10626735 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.226A>C (p.Lys76Gln) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005076679] Chr20:10672862 [GRCh38]
Chr20:10653510 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.27G>A (p.Arg9=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005145028] Chr20:10673504 [GRCh38]
Chr20:10654152 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1396-27TC[3] microsatellite Alagille syndrome due to a JAG1 point mutation [RCV005188676] Chr20:10648740..10648743 [GRCh38]
Chr20:10629388..10629391 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1570-16T>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005161831] Chr20:10648126 [GRCh38]
Chr20:10628774 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3041T>C (p.Val1014Ala) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005077931] Chr20:10641120 [GRCh38]
Chr20:10621768 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1006+13A>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005164512] Chr20:10652118 [GRCh38]
Chr20:10632766 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1806C>A (p.His602Gln) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005195074] Chr20:10647018 [GRCh38]
Chr20:10627666 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3442A>G (p.Lys1148Glu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005156061] Chr20:10639713 [GRCh38]
Chr20:10620361 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1501C>G (p.His501Asp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005079644] Chr20:10648617 [GRCh38]
Chr20:10629265 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1815C>T (p.Cys605=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005188153] Chr20:10647009 [GRCh38]
Chr20:10627657 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2345-20A>G single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005188876] Chr20:10644404 [GRCh38]
Chr20:10625052 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2227+18G>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005174408] Chr20:10645125 [GRCh38]
Chr20:10625773 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1349-17A>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005189878] Chr20:10649124 [GRCh38]
Chr20:10629772 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.590dup (p.Asn197fs) duplication Alagille syndrome due to a JAG1 point mutation [RCV005204702] Chr20:10658571..10658572 [GRCh38]
Chr20:10639219..10639220 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.256G>T (p.Val86Phe) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005082211] Chr20:10672832 [GRCh38]
Chr20:10653480 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1167C>T (p.Cys389=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005206379] Chr20:10650314 [GRCh38]
Chr20:10630962 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.82-14T>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005189718] Chr20:10673020 [GRCh38]
Chr20:10653668 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.388-13G>A single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005167415] Chr20:10664027 [GRCh38]
Chr20:10644675 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3642G>A (p.Met1214Ile) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005147718] Chr20:10639513 [GRCh38]
Chr20:10620161 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2114-10T>G single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005201358] Chr20:10645266 [GRCh38]
Chr20:10625914 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.3049-4C>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005202618] Chr20:10640937 [GRCh38]
Chr20:10621585 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2865G>A (p.Gln955=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005148556] Chr20:10641511 [GRCh38]
Chr20:10622159 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1696C>T (p.His566Tyr) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005148955] Chr20:10647984 [GRCh38]
Chr20:10628632 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1695C>T (p.Asp565=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005072298] Chr20:10647985 [GRCh38]
Chr20:10628633 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.416G>A (p.Trp139Ter) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005198418] Chr20:10663986 [GRCh38]
Chr20:10644634 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.1720+4C>T single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005185680] Chr20:10647956 [GRCh38]
Chr20:10628604 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2101A>G (p.Thr701Ala) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005193077] Chr20:10645368 [GRCh38]
Chr20:10626016 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.747T>C (p.Gly249=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005193617] Chr20:10656406 [GRCh38]
Chr20:10637054 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2436T>G (p.Phe812Leu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005153151] Chr20:10643800 [GRCh38]
Chr20:10624448 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.703C>G (p.Arg235Gly) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005193646] Chr20:10656450 [GRCh38]
Chr20:10637098 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.1339del (p.Cys447fs) deletion Alagille syndrome due to a JAG1 point mutation [RCV005201452] Chr20:10649531 [GRCh38]
Chr20:10630179 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.3353A>T (p.Gln1118Leu) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005194088] Chr20:10639802 [GRCh38]
Chr20:10620450 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2607G>T (p.Val869=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005164530] Chr20:10641858 [GRCh38]
Chr20:10622506 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2271C>T (p.Gly757=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005150002] Chr20:10644936 [GRCh38]
Chr20:10625584 [GRCh37]
Chr20:20p12.2		 benign
NM_000214.3(JAG1):c.203G>A (p.Arg68His) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005194710] Chr20:10672885 [GRCh38]
Chr20:10653533 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.3087G>A (p.Lys1029=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005199072] Chr20:10640895 [GRCh38]
Chr20:10621543 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1827G>A (p.Ser609=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005179840] Chr20:10646997 [GRCh38]
Chr20:10627645 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.2154C>G (p.Gly718=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005156336] Chr20:10645216 [GRCh38]
Chr20:10625864 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.439+1G>C single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005071932] Chr20:10663962 [GRCh38]
Chr20:10644610 [GRCh37]
Chr20:20p12.2		 pathogenic
NM_000214.3(JAG1):c.2246T>G (p.Leu749Arg) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005181614] Chr20:10644961 [GRCh38]
Chr20:10625609 [GRCh37]
Chr20:20p12.2		 uncertain significance
NM_000214.3(JAG1):c.2877G>T (p.Ala959=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005143094] Chr20:10641499 [GRCh38]
Chr20:10622147 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.265G>T (p.Gly89Trp) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005173805] Chr20:10672823 [GRCh38]
Chr20:10653471 [GRCh37]
Chr20:20p12.2		 likely benign
NM_000214.3(JAG1):c.1614C>T (p.Ala538=) single nucleotide variant Alagille syndrome due to a JAG1 point mutation [RCV005196514] Chr20:10648066 [GRCh38]
Chr20:10628714 [GRCh37]
Chr20:20p12.2		 likely benign
miRNA Target Status (No longer updated)

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR200Bhsa-miR-200b-3pOncomiRDBexternal_infoNANA21224848
MIR200Bhsa-miR-200b-3pOncomiRDBexternal_infoNANA21224847
MIR200Ahsa-miR-200a-3pOncomiRDBexternal_infoNANA21224848
MIR200Ahsa-miR-200a-3pOncomiRDBexternal_infoNANA21224847
MIR21hsa-miR-21-5pMirecordsexternal_infoNANA19398721
MIR21hsa-miR-21-5pOncomiRDBexternal_infoNANA22618231
MIR34Ahsa-miR-34a-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI20351093
MIR34Ahsa-miR-34a-5pMirtarbaseexternal_infoFlow//Immunoblot//Luciferase reporter assay//MicroFunctional MTI19398721
MIR524hsa-miR-524-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI22871495
MIR524hsa-miR-524-5pOncomiRDBexternal_infoNANA22871495
MIR21hsa-miR-21-5pMirtarbaseexternal_infoFlow//Immunoblot//Luciferase reporter assay//MicroFunctional MTI19398721
MIR21hsa-miR-21-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22618231
MIR200Chsa-miR-200c-3pOncomiRDBexternal_infoNANA21224848
MIR200Chsa-miR-200c-3pOncomiRDBexternal_infoNANA21224847
MIR200Chsa-miR-200c-5pMirecordsexternal_info{unchanged}NA21224847
MIR141hsa-miR-141-3pMirecordsexternal_info{unchanged}NA21224847
MIR34Bhsa-miR-34b-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI22113133

Predicted Target Of
Summary Value
Count of predictions:1380
Count of miRNA genes:790
Interacting mature miRNAs:932
Transcripts:ENST00000254958, ENST00000423891, ENST00000488480
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406992455GWAS641431_Hreticulocyte count QTL GWAS641431 (human)8e-10reticulocyte quantity (VT:0003135)total reticulocyte count (CMO:0003020)201066602310666024Human
407110082GWAS759058_Heosinophil count QTL GWAS759058 (human)9e-09eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)201066703110667032Human
597216671GWAS1312745_Hpulse pressure measurement QTL GWAS1312745 (human)1e-15pulse pressure measurementpulse pressure (CMO:0000292)201064185310641854Human
597220753GWAS1316827_Hcataract QTL GWAS1316827 (human)9e-15cataract201066902910669030Human
597163934GWAS1260008_Hcataract QTL GWAS1260008 (human)4e-11cataract201066902910669030Human
597256085GWAS1352159_Hurate measurement QTL GWAS1352159 (human)1e-10urate measurementblood uric acid level (CMO:0000501)201065955310659554Human
597139225GWAS1235299_Hneuroimaging measurement QTL GWAS1235299 (human)4e-25neuroimaging measurement201066911310669114Human
596968090GWAS1087609_Hdiastolic blood pressure QTL GWAS1087609 (human)3e-08diastolic blood pressure201064185310641854Human
597349003GWAS1445077_Hurate measurement QTL GWAS1445077 (human)5e-09urate measurementblood uric acid level (CMO:0000501)201065819810658199Human
597313294GWAS1409368_Hcortical thickness QTL GWAS1409368 (human)3e-09cortical thickness201066703110667032Human
597223936GWAS1320010_Hcataract QTL GWAS1320010 (human)3e-17cataract201066902910669030Human
597230976GWAS1327050_Happendicular lean mass QTL GWAS1327050 (human)2e-12appendicular lean mass201064354210643543Human
597110286GWAS1206360_Hurate measurement QTL GWAS1206360 (human)3e-09urate measurementblood uric acid level (CMO:0000501)201066320210663203Human
597081999GWAS1178073_Hlymphocyte count QTL GWAS1178073 (human)5e-12lymphocyte countblood lymphocyte count (CMO:0000031)201066867110668672Human
597237379GWAS1333453_Hcortical thickness QTL GWAS1333453 (human)1e-10cortical thickness201066703110667032Human
596953097GWAS1072616_Hsize QTL GWAS1072616 (human)1e-09size201064354210643543Human
597478273GWAS1574347_Hheel bone mineral density QTL GWAS1574347 (human)5e-75heel bone mineral densitybone mineral density (CMO:0001226)201064887710648878Human
597076278GWAS1172352_Hheel bone mineral density QTL GWAS1172352 (human)7e-08heel bone mineral densitybone mineral density (CMO:0001226)201066433610664337Human
597616191GWAS1673051_HDupuytren Contracture QTL GWAS1673051 (human)3e-11Dupuytren Contracture201064887710648878Human
406978144GWAS627120_Hwhite matter microstructure measurement QTL GWAS627120 (human)7e-09white matter microstructure measurement201066911310669114Human
597350584GWAS1446658_Hurate measurement QTL GWAS1446658 (human)2e-11urate measurementblood uric acid level (CMO:0000501)201066351010663511Human
597076277GWAS1172351_Hheel bone mineral density QTL GWAS1172351 (human)7e-10heel bone mineral densitybone mineral density (CMO:0001226)201065939410659395Human
597415359GWAS1511433_Hurate measurement QTL GWAS1511433 (human)8e-16urate measurementblood uric acid level (CMO:0000501)201065955310659554Human
597202110GWAS1298184_Hdiastolic blood pressure QTL GWAS1298184 (human)9e-15diastolic blood pressurediastolic blood pressure (CMO:0000005)201064185310641854Human
597425459GWAS1521533_Hgout QTL GWAS1521533 (human)4e-09gout201066351010663511Human
597308466GWAS1404540_Hfemoral neck bone mineral density QTL GWAS1404540 (human)1e-08bone mineralization trait (VT:0002896)bone mineral density (CMO:0001226)201066351010663511Human
597294896GWAS1390970_Hhematocrit QTL GWAS1390970 (human)2e-09hematocrithematocrit (CMO:0000037)201063836610638367Human
597035199GWAS1131273_Hheel bone mineral density QTL GWAS1131273 (human)2e-13heel bone mineral densitybone mineral density (CMO:0001226)201065402710654028Human
597054520GWAS1150594_Hhematocrit QTL GWAS1150594 (human)2e-14hematocrithematocrit (CMO:0000037)201063836610638367Human
597229357GWAS1325431_Hheel bone mineral density QTL GWAS1325431 (human)2e-21heel bone mineral densitybone mineral density (CMO:0001226)201066433610664337Human
406998903GWAS647879_Hreticulocyte measurement QTL GWAS647879 (human)4e-09reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)201066602310666024Human
597504171GWAS1600245_HDupuytren Contracture QTL GWAS1600245 (human)3e-12Dupuytren Contracture201064887710648878Human
597221423GWAS1317497_Hcataract QTL GWAS1317497 (human)5e-08cataract201066730310667304Human
597296045GWAS1392119_Hlymphocyte count QTL GWAS1392119 (human)2e-08lymphocyte countblood lymphocyte count (CMO:0000031)201066867110668672Human
406977529GWAS626505_Hwhite matter microstructure measurement QTL GWAS626505 (human)4e-09white matter microstructure measurement201066911310669114Human
407305476GWAS954452_Hlymphocyte count QTL GWAS954452 (human)2e-10lymphocyte countblood lymphocyte count (CMO:0000031)201066911310669114Human
597317074GWAS1413148_Hdiastolic blood pressure QTL GWAS1413148 (human)3e-08diastolic blood pressurediastolic blood pressure (CMO:0000005)201064185310641854Human
597075678GWAS1171752_Hheel bone mineral density QTL GWAS1171752 (human)5e-15heel bone mineral densitybone mineral density (CMO:0001226)201065939410659395Human
597075679GWAS1171753_Hheel bone mineral density QTL GWAS1171753 (human)0.0000001heel bone mineral densitybone mineral density (CMO:0001226)201066433610664337Human
597314768GWAS1410842_Huric acid measurement QTL GWAS1410842 (human)2e-10uric acid measurementblood uric acid level (CMO:0000501)201065955310659554Human
597284818GWAS1380892_Hhemoglobin A1 measurement QTL GWAS1380892 (human)1e-08hemoglobin A1 measurement201064052510640526Human
597049818GWAS1145892_Herythrocyte count QTL GWAS1145892 (human)8e-09erythrocyte countred blood cell count (CMO:0000025)201063836610638367Human
597123674GWAS1219748_Hurate measurement QTL GWAS1219748 (human)1e-11urate measurementblood uric acid level (CMO:0000501)201065955310659554Human
597427021GWAS1523095_Hgout QTL GWAS1523095 (human)2e-08gout201066351010663511Human
597113155GWAS1209229_Herythrocyte count QTL GWAS1209229 (human)5e-09erythrocyte countred blood cell count (CMO:0000025)201063836610638367Human
597035200GWAS1131274_Hheel bone mineral density QTL GWAS1131274 (human)9e-27heel bone mineral densitybone mineral density (CMO:0001226)201066320210663203Human
597307970GWAS1404044_Hspine bone mineral density QTL GWAS1404044 (human)6e-11spine bone mineral densitybone mineral density (CMO:0001226)201065927510659276Human
597496007GWAS1592081_Hsystolic blood pressure QTL GWAS1592081 (human)2e-09systolic blood pressuresystolic blood pressure (CMO:0000004)201067391510673916Human
597581890GWAS1638750_Hpulse pressure measurement QTL GWAS1638750 (human)1e-11pulse pressure measurementpulse pressure (CMO:0000292)201066911310669114Human
406989983GWAS638959_Hreticulocyte measurement QTL GWAS638959 (human)2e-10reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)201066602310666024Human
597051723GWAS1147797_Heosinophil count QTL GWAS1147797 (human)2e-09eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)201066911310669114Human
597589568GWAS1646428_HDupuytren Contracture QTL GWAS1646428 (human)1e-11Dupuytren Contracture201064887710648878Human
597581889GWAS1638749_Hpulse pressure measurement QTL GWAS1638749 (human)1e-15pulse pressure measurementpulse pressure (CMO:0000292)201065567610655677Human
1643385BW311_HBody weight QTL 311 (human)3.310.0001Body fat amount20734547523289549Human
597364728GWAS1460802_Hheel bone mineral density QTL GWAS1460802 (human)8e-72heel bone mineral densitybone mineral density (CMO:0001226)201064887710648878Human
597307001GWAS1403075_Hspine bone mineral density QTL GWAS1403075 (human)9e-14spine bone mineral densitybone mineral density (CMO:0001226)201065965810659659Human
597291133GWAS1387207_Hsize QTL GWAS1387207 (human)1e-09size201064354210643543Human
597414908GWAS1510982_Hheel bone mineral density QTL GWAS1510982 (human)1e-37heel bone mineral densitybone mineral density (CMO:0001226)201064887710648878Human
597341559GWAS1437633_Hserum gamma-glutamyl transferase measurement QTL GWAS1437633 (human)8e-10serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)201065939410659395Human
1643383BW312_HBody weight QTL 312 (human)2.920.0004Body fat amountpercent fat20734547523289549Human
406980786GWAS629762_Hwhite matter microstructure measurement QTL GWAS629762 (human)2e-09white matter microstructure measurement201066986210669863Human
597075175GWAS1171249_Hheel bone mineral density QTL GWAS1171249 (human)2e-25heel bone mineral densitybone mineral density (CMO:0001226)201065939410659395Human
597227499GWAS1323573_Hheel bone mineral density QTL GWAS1323573 (human)1e-87heel bone mineral densitybone mineral density (CMO:0001226)201065939410659395Human
597110627GWAS1206701_Hurate measurement QTL GWAS1206701 (human)2e-09urate measurementblood uric acid level (CMO:0000501)201065773810657739Human
597228781GWAS1324855_Hheel bone mineral density QTL GWAS1324855 (human)2e-38heel bone mineral densitybone mineral density (CMO:0001226)201064922410649225Human
597228782GWAS1324856_Hheel bone mineral density QTL GWAS1324856 (human)2e-47heel bone mineral densitybone mineral density (CMO:0001226)201066730310667304Human
597098848GWAS1194922_Hmonocyte count QTL GWAS1194922 (human)9e-11monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)201066602310666024Human
597075176GWAS1171250_Hheel bone mineral density QTL GWAS1171250 (human)1e-12heel bone mineral densitybone mineral density (CMO:0001226)201066433610664337Human
597346789GWAS1442863_Hwhite matter microstructure measurement QTL GWAS1442863 (human)1e-10white matter microstructure measurement201066911310669114Human

Markers in Region
RH123107  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372010,647,053 - 10,647,331UniSTSGRCh37
Build 362010,595,053 - 10,595,331RGDNCBI36
Celera2010,717,032 - 10,717,310RGD
Cytogenetic Map20p12.1-p11.23UniSTS
HuRef2010,598,493 - 10,598,771UniSTS
TNG Radiation Hybrid Map206144.0UniSTS
WI-17032  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372010,618,359 - 10,618,492UniSTSGRCh37
Build 362010,566,359 - 10,566,492RGDNCBI36
Celera2010,688,331 - 10,688,464RGD
Cytogenetic Map20p12.1-p11.23UniSTS
HuRef2010,569,798 - 10,569,931UniSTS
GeneMap99-GB4 RH Map2076.68UniSTS
Whitehead-RH Map2070.3UniSTS
PMC111189P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372010,653,364 - 10,654,316UniSTSGRCh37
Build 362010,601,364 - 10,602,316RGDNCBI36
Celera2010,723,320 - 10,724,272RGD
Cytogenetic Map20p12.1-p11.23UniSTS
HuRef2010,604,805 - 10,605,757UniSTS
JAG1_1238  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372010,618,362 - 10,619,260UniSTSGRCh37
Build 362010,566,362 - 10,567,260RGDNCBI36
Celera2010,688,334 - 10,689,232RGD
HuRef2010,569,801 - 10,570,699UniSTS
D20S1091  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372010,618,676 - 10,618,765UniSTSGRCh37
Build 362010,566,676 - 10,566,765RGDNCBI36
Celera2010,688,648 - 10,688,737RGD
Cytogenetic Map20p12.1-p11.23UniSTS
HuRef2010,570,115 - 10,570,204UniSTS
STS-T96855  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372010,630,556 - 10,630,692UniSTSGRCh37
Build 362010,578,556 - 10,578,692RGDNCBI36
Celera2010,700,530 - 10,700,666RGD
Cytogenetic Map20p12.1-p11.23UniSTS
HuRef2010,581,994 - 10,582,130UniSTS
GeneMap99-GB4 RH Map2073.3UniSTS
Z94625  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372010,641,300 - 10,641,487UniSTSGRCh37
Build 362010,589,300 - 10,589,487RGDNCBI36
Celera2010,711,277 - 10,711,464RGD
Cytogenetic Map20p12.1-p11.23UniSTS
HuRef2010,592,738 - 10,592,925UniSTS
SHGC-33818  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372010,630,415 - 10,630,525UniSTSGRCh37
Build 362010,578,415 - 10,578,525RGDNCBI36
Celera2010,700,389 - 10,700,499RGD
Cytogenetic Map20p12.1-p11.23UniSTS
HuRef2010,581,853 - 10,581,963UniSTS
TNG Radiation Hybrid Map206163.0UniSTS
GeneMap99-GB4 RH Map2073.3UniSTS
Whitehead-RH Map2072.1UniSTS
Z94359  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372010,645,511 - 10,645,632UniSTSGRCh37
Build 362010,593,511 - 10,593,632RGDNCBI36
Celera2010,715,490 - 10,715,611RGD
Cytogenetic Map20p12.1-p11.23UniSTS
HuRef2010,596,951 - 10,597,072UniSTS
WI-12707  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372010,637,382 - 10,637,513UniSTSGRCh37
Build 362010,585,382 - 10,585,513RGDNCBI36
Celera2010,707,356 - 10,707,487RGD
Cytogenetic Map20p12.1-p11.23UniSTS
HuRef2010,588,820 - 10,588,951UniSTS
GeneMap99-GB4 RH Map2073.3UniSTS
GeneMap99-GB4 RH Map2073.7UniSTS
Whitehead-RH Map2073.6UniSTS
WI-8071  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372010,618,395 - 10,618,644UniSTSGRCh37
Build 362010,566,395 - 10,566,644RGDNCBI36
Celera2010,688,367 - 10,688,616RGD
Cytogenetic Map20p12.1-p11.23UniSTS
HuRef2010,569,834 - 10,570,083UniSTS
GeneMap99-GB4 RH Map2073.3UniSTS
Whitehead-RH Map2072.5UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2435 2788 2247 4966 1725 2348 5 622 1926 465 2269 7275 6443 51 3728 851 1742 1614 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA933912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF003837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF028593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI268246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL035456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC098393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF056748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ013354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ439570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ439571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ439572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U61276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U73936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U77720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U77914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z50166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000254958   ⟹   ENSP00000254958
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2010,637,684 - 10,673,999 (-)Ensembl
Ensembl Acc Id: ENST00000423891
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2010,637,759 - 10,662,506 (-)Ensembl
Ensembl Acc Id: ENST00000488480
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2010,644,443 - 10,646,366 (-)Ensembl
Ensembl Acc Id: ENST00000612857
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2010,645,372 - 10,647,312 (-)Ensembl
Ensembl Acc Id: ENST00000613518   ⟹   ENSP00000481034
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2010,645,722 - 10,648,028 (-)Ensembl
Ensembl Acc Id: ENST00000617357
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2010,639,870 - 10,641,276 (-)Ensembl
Ensembl Acc Id: ENST00000617965
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2010,641,580 - 10,652,722 (-)Ensembl
Ensembl Acc Id: ENST00000620743
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2010,647,981 - 10,649,588 (-)Ensembl
Ensembl Acc Id: ENST00000622545   ⟹   ENSP00000484139
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2010,647,048 - 10,650,257 (-)Ensembl
RefSeq Acc Id: NM_000214   ⟹   NP_000205
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382010,637,684 - 10,673,999 (-)NCBI
GRCh372010,618,332 - 10,654,694 (-)ENTREZGENE
Build 362010,566,334 - 10,602,590 (-)NCBI Archive
HuRef2010,569,771 - 10,606,135 (-)ENTREZGENE
CHM1_12010,618,904 - 10,655,234 (-)NCBI
T2T-CHM13v2.02010,680,698 - 10,717,017 (-)NCBI
Sequence:
RefSeq Acc Id: NP_000205   ⟸   NM_000214
- Peptide Label: precursor
- UniProtKB: O15122 (UniProtKB/Swiss-Prot),   O14902 (UniProtKB/Swiss-Prot),   E9PCF9 (UniProtKB/Swiss-Prot),   B4DYR1 (UniProtKB/Swiss-Prot),   A0AV43 (UniProtKB/Swiss-Prot),   Q15816 (UniProtKB/Swiss-Prot),   P78504 (UniProtKB/Swiss-Prot),   B2R6U9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000254958   ⟸   ENST00000254958
Ensembl Acc Id: ENSP00000484139   ⟸   ENST00000622545
Ensembl Acc Id: ENSP00000481034   ⟸   ENST00000613518
Protein Domains
DSL   EGF-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P78504-F1-model_v2 AlphaFold P78504 1-1218 view protein structure

Promoters
RGD ID:6798819
Promoter ID:HG_KWN:38595
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_000214
Position:
Human AssemblyChrPosition (strand)Source
Build 362010,602,591 - 10,603,152 (-)MPROMDB
RGD ID:13206383
Promoter ID:EPDNEW_H26772
Type:initiation region
Name:JAG1_1
Description:jagged 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382010,673,999 - 10,674,059EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6188 AgrOrtholog
COSMIC JAG1 COSMIC
Ensembl Genes ENSG00000101384 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000254958 ENTREZGENE
  ENST00000254958.10 UniProtKB/Swiss-Prot
  ENST00000613518.1 UniProtKB/TrEMBL
  ENST00000622545.1 UniProtKB/TrEMBL
Gene3D-CATH 2.10.25.140 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.3510 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Complement Module, domain 1 UniProtKB/TrEMBL
  Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000101384 GTEx
HGNC ID HGNC:6188 ENTREZGENE
Human Proteome Map JAG1 Human Proteome Map
InterPro DSL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_Ca-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-type_Asp/Asn_hydroxyl_site UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_Ca-bd_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_extracell UniProtKB/TrEMBL
  Growth_fac_rcpt_cys_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Jagged/Serrate UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NOTCH1_EGF-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Notch_Cell-Fate_Det UniProtKB/TrEMBL
  NOTCH_homolog UniProtKB/TrEMBL
  Notch_ligand_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Notch_signaling UniProtKB/TrEMBL
  VWF_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:182 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 182 ENTREZGENE
OMIM 601920 OMIM
PANTHER CRUMBS FAMILY MEMBER UniProtKB/TrEMBL
  CYTOCHROME C OXIDASE POLYPEPTIDE VIC-2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DELTA-LIKE PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-LIKE DOMAIN-CONTAINING PROTEIN UniProtKB/TrEMBL
  EGF-LIKE DOMAIN-CONTAINING PROTEIN UniProtKB/TrEMBL
  MULTIPLE EPIDERMAL GROWTH FACTOR-LIKE DOMAINS PROTEIN 8 UniProtKB/TrEMBL
  NEUROGENIC LOCUS NOTCH HOMOLOG PROTEIN 1 UniProtKB/TrEMBL
  NOTCH LIGAND FAMILY MEMBER UniProtKB/TrEMBL
  PROTEIN JAGGED-2 UniProtKB/TrEMBL
Pfam DL-JAG_EGF-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DSL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_2 UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  hEGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MNNL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB JAG1 RGD, PharmGKB
PRINTS EGFBLOOD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  JAGGEDFAMILY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ASX_HYDROXYL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DSL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DSL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWC_out UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP EGF/Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FnI-like domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57184 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WXH5_HUMAN UniProtKB/TrEMBL
  A0A087X1E8_HUMAN UniProtKB/TrEMBL
  A0AV43 ENTREZGENE
  B2R6U9 ENTREZGENE, UniProtKB/TrEMBL
  B4DYR1 ENTREZGENE
  B5M914_HUMAN UniProtKB/TrEMBL
  B7U6M8_HUMAN UniProtKB/TrEMBL
  B7U6M9_HUMAN UniProtKB/TrEMBL
  E9PCF9 ENTREZGENE
  JAG1_HUMAN UniProtKB/Swiss-Prot
  O14902 ENTREZGENE
  O15122 ENTREZGENE
  P78504 ENTREZGENE
  Q15816 ENTREZGENE
  Q4KMR2_HUMAN UniProtKB/TrEMBL
  Q99740_HUMAN UniProtKB/TrEMBL
UniProt Secondary A0AV43 UniProtKB/Swiss-Prot
  B4DYR1 UniProtKB/Swiss-Prot
  E9PCF9 UniProtKB/Swiss-Prot
  O14902 UniProtKB/Swiss-Prot
  O15122 UniProtKB/Swiss-Prot
  Q15816 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-08 JAG1  jagged canonical Notch ligand 1    jagged 1  Symbol and/or name change 5135510 APPROVED
2011-07-27 JAG1  jagged 1  JAG1  jagged 1 (Alagille syndrome)  Symbol and/or name change 5135510 APPROVED