TTR (transthyretin) - Rat Genome Database

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Gene: TTR (transthyretin) Homo sapiens
Analyze
Symbol: TTR
Name: transthyretin
RGD ID: 737331
HGNC Page HGNC:12405
Description: Enables identical protein binding activity. Predicted to be involved in negative regulation of glomerular filtration; purine nucleobase metabolic process; and retinoid metabolic process. Located in extracellular exosome. Implicated in Alzheimer's disease; amyloidosis; carpal tunnel syndrome 1; dystransthyretinemic hyperthyroxinemia; and transthyretin amyloidosis. Biomarker of colorectal adenoma; gastrointestinal system cancer (multiple); and lung cancer (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ATTR; carpal tunnel syndrome 1; CTS; CTS1; epididymis luminal protein 111; HEL111; HsT2651; PALB; prealbumin, amyloidosis type I; TBPA; thyroxine-binding prealbumin; transthyretin (prealbumin, amyloidosis type I); TTN
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
GRCh381831,591,877 - 31,598,821 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1831,557,009 - 31,598,833 (+)EnsemblGRCh38hg38GRCh38
GRCh371829,171,840 - 29,178,784 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361827,425,838 - 27,432,781 (+)NCBINCBI36Build 36hg18NCBI36
Build 341827,425,837 - 27,432,781NCBI
Celera1825,978,845 - 25,986,103 (+)NCBICelera
Cytogenetic Map18q12.1NCBI
HuRef1826,028,609 - 26,035,866 (+)NCBIHuRef
CHM1_11829,099,038 - 29,106,294 (+)NCBICHM1_1
T2T-CHM13v2.01831,782,391 - 31,789,335 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acute kidney failure  (EXP)
adenosquamous lung carcinoma  (HEP)
Alzheimer's disease  (IDA)
Amyloid Neuropathies  (IAGP)
amyloidosis  (EXP,IAGP)
anemia  (IAGP)
arrhythmogenic right ventricular dysplasia 10  (IAGP)
arrhythmogenic right ventricular dysplasia 11  (IAGP)
bone marrow disease  (IAGP)
brain ischemia  (ISO)
Brugada syndrome  (IAGP)
cardiac amyloidosis  (IAGP)
Cardiac Conduction Defect  (IAGP)
cardiomyopathy  (IAGP)
carpal tunnel syndrome  (EXP,IAGP)
carpal tunnel syndrome 1  (IAGP)
Charcot-Marie-Tooth disease  (IAGP)
Chemical and Drug Induced Liver Injury  (EXP)
cholangiocarcinoma  (IEP)
chromosome 18q deletion syndrome  (IAGP)
colorectal adenoma  (IEP)
colorectal cancer  (IEP)
congestive heart failure  (IAGP)
Drug Eruptions  (EXP)
Drug-Related Side Effects and Adverse Reactions  (EXP)
dystransthyretinemic hyperthyroxinemia  (EXP,IAGP)
Familial Amyloid Polyneuropathies  (EXP,IAGP,IEA)
Familial Amyloidosis  (EXP,IAGP,IEA)
familial hypertrophic cardiomyopathy  (IAGP)
Heart Block  (IAGP)
hepatocellular carcinoma  (IEP,ISO)
hypertrophic cardiomyopathy  (IAGP)
hypertrophic cardiomyopathy 1  (IAGP)
Hypothermia  (ISO)
intellectual disability  (IAGP)
lung adenocarcinoma  (HEP)
lung cancer  (IEP)
lung large cell carcinoma  (HEP)
Lung Neoplasms  (EXP)
lung non-small cell carcinoma  (IEP)
lung small cell carcinoma  (HEP)
Lymphatic Metastasis  (IEP)
Neoplasm Metastasis  (IEP)
oral squamous cell carcinoma  (IEP)
pancytopenia  (IAGP)
stomach cancer  (IEP)
Sudden Unexpected Nocturnal Death Syndrome  (IAGP)
transthyretin amyloidosis  (EXP,IAGP,ISS)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
1-[(4-chlorophenyl)-phenylmethyl]-4-methylpiperazine  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (EXP,ISO)
2,2',4,4',5,6'-Hexabromodiphenyl ether  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP,ISO)
2,2',4,5'-Tetrabromodiphenyl ether  (EXP)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,2,2-tetramine  (ISO)
2,3,3',4,4',5,5'-Heptachlorobiphenyl  (EXP)
2,3,4,7,8-Pentachlorodibenzofuran  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4,6-tribromophenol  (EXP)
2,4-dibromophenol  (EXP)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,6-di-tert-butyl-4-methylphenol  (ISO)
2-acetamidofluorene  (ISO)
2-aminoacetyl fluoride  (ISO)
2-bromohexadecanoic acid  (EXP)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP,ISO)
3,3',5-triiodo-L-thyronine  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3,5-dibromo-4-hydroxybenzonitrile  (ISO)
3,5-dichlorobiphenyl  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-chlorobiphenyl  (EXP)
4-hydroxyphenyl retinamide  (EXP)
4-nonylphenol  (EXP)
6-propyl-2-thiouracil  (ISO)
8-anilinonaphthalene-1-sulfonic acid  (EXP)
9-cis-retinoic acid  (ISO)
acetamide  (ISO)
aconitine  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinol  (EXP)
ammonium chloride  (ISO)
Ampullosporin  (ISO)
arotinoid acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
Azoxymethane  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzylpenicillin  (EXP)
bexarotene  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bitertanol  (EXP)
bromobenzene  (ISO)
buta-1,3-diene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
CHIR 99021  (EXP)
chloroform  (ISO)
chlorohydrocarbon  (ISO)
cisplatin  (ISO)
clofibrate  (ISO)
clozapine  (ISO)
cobalt dichloride  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
cortisol  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP,ISO)
cylindrospermopsin  (EXP)
DDE  (ISO)
DDT  (ISO)
dexamethasone  (ISO)
dextran sulfate  (ISO)
diazinon  (ISO)
diclofenac  (ISO)
dicofol  (ISO)
diethylstilbestrol  (EXP)
difenoconazole  (EXP)
diflunisal  (EXP)
diiodine  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (ISO)
erythromycin estolate  (ISO)
fentin chloride  (ISO)
fluoxetine  (ISO)
flutamide  (ISO)
folic acid  (ISO)
fonofos  (EXP)
formaldehyde  (ISO)
fructose  (ISO)
fumonisin B1  (ISO)
furan  (ISO)
genistein  (ISO)
glycidol  (ISO)
glyphosate  (ISO)
hexachlorobenzene  (ISO)
hydrazine  (ISO)
hydrogen cyanide  (ISO)
hydrogen peroxide  (EXP)
indometacin  (EXP)
isoprenaline  (ISO)
ketamine  (ISO)
L-ascorbic acid  (EXP)
L-ascorbic acid 2-phosphate  (EXP)
lead diacetate  (ISO)
lipopolysaccharide  (ISO)
mercury dibromide  (EXP)
Mesaconitine  (ISO)
methotrexate  (ISO)
methylmercury chloride  (EXP,ISO)
microcystin-LR  (ISO)
morphine  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosomorpholine  (ISO)
naphthalene  (ISO)
nickel atom  (EXP)
nickel dichloride  (ISO)
nitrofen  (ISO)
Nonylphenol  (EXP)
olanzapine  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
parathion  (EXP)
PCB138  (EXP,ISO)
pentachlorophenol  (EXP)
perfluorobutanesulfonic acid  (EXP)
perfluorobutyric acid  (EXP)
perfluorodecanoic acid  (EXP)
perfluorododecanoic acid  (EXP)
perfluoroheptanoic acid  (EXP)
perfluorohexanesulfonic acid  (EXP,ISO)
perfluorohexanoic acid  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP)
perfluoroundecanoic acid  (EXP)
permethrin  (ISO)
phencyclidine  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
potassium cyanide  (ISO)
progesterone  (ISO)
propanal  (EXP)
quercetin  (EXP)
quinolin-8-ol  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
senecionine  (ISO)
silicon dioxide  (EXP)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
streptozocin  (ISO)
T-2 toxin  (EXP)
tafamidis  (EXP)
tamibarotene  (ISO)
terbufos  (EXP)
Tetrachlorobisphenol A  (EXP)
tetrachlorohydroquinone  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
thioacetamide  (ISO)
thyroxine  (EXP,ISO)
titanium dioxide  (ISO)
triclosan  (EXP)
urea  (EXP)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
XAV939  (EXP)
zinc atom  (EXP,ISO)
zinc dichloride  (ISO)
zinc(0)  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

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

Human Phenotype
Abnormal atrioventricular conduction  (IAGP)
Abnormal autonomic nervous system physiology  (IAGP)
Abnormal EKG  (IAGP)
Abnormal enteric nervous system morphology  (IAGP)
Abnormal pyramidal sign  (IAGP)
Abnormal renal physiology  (IAGP)
Adult onset  (IAGP)
Amyloid deposition in the vitreous humor  (IAGP)
Amyloidosis  (IAGP)
Anemia  (IAGP)
Angina pectoris  (IAGP)
Anxiety  (IAGP)
Aortic valve stenosis  (IAGP)
Arrhythmia  (IAGP)
Ataxia  (IAGP)
Atrial arrhythmia  (IAGP)
Atrioventricular block  (IAGP)
Auditory hallucination  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bone marrow hypocellularity  (IAGP)
Cardiac amyloidosis  (IAGP)
Cardiomegaly  (IAGP)
Cardiomyopathy  (IAGP)
Confusion  (IAGP)
Congestive heart failure  (IAGP)
Constipation  (IAGP)
Constrictive median neuropathy  (IAGP)
Dementia  (IAGP)
Diarrhea  (IAGP)
Digital flexor tenosynovitis  (IAGP)
Diplopia  (IAGP)
Dysarthria  (IAGP)
Episodic vomiting  (IAGP)
Euthyroid hyperthyroxinemia  (IAGP)
Facial tics  (IAGP)
Hallucinations  (IAGP)
Headache  (IAGP)
Hearing impairment  (IAGP)
Hemiparesis  (IAGP)
High myopia  (IAGP)
Horizontal nystagmus  (IAGP)
Hyperreflexia  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hyporeflexia  (IAGP)
Impotence  (IAGP)
Increased circulating NT-proBNP concentration  (IAGP)
Increased circulating troponin T concentration  (IAGP)
Increased CSF protein concentration  (IAGP)
Intellectual disability  (IAGP)
Intention tremor  (IAGP)
Left ventricular hypertrophy  (IAGP)
Leptomeningeal enhancement  (IAGP)
Limb ataxia  (IAGP)
Muscle weakness  (IAGP)
Nephropathy  (IAGP)
Nystagmus  (IAGP)
Orthostatic hypotension due to autonomic dysfunction  (IAGP)
Pancytopenia  (IAGP)
Paraplegia  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Peripheral neuropathy  (IAGP)
Polyneuropathy  (IAGP)
Positive Romberg sign  (IAGP)
Progressive  (IAGP)
Ptosis  (IAGP)
Pulmonary edema  (IAGP)
Reduced circulating vitamin B6 circulating  (IAGP)
Reduced left ventricular ejection fraction  (IAGP)
Restrictive cardiomyopathy  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Spastic paraparesis  (IAGP)
Spasticity  (IAGP)
Spinal canal stenosis  (IAGP)
Stroke  (IAGP)
Stroke-like episode  (IAGP)
Tendon rupture  (IAGP)
Thromboembolism  (IAGP)
Tip-toe gait  (IAGP)
Tremor  (IAGP)
Truncal ataxia  (IAGP)
Urinary incontinence  (IAGP)
Vertical nystagmus  (IAGP)
Visual impairment  (IAGP)
Vitreous floaters  (IAGP)
Weight loss  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Identification of tetranectin as a potential biomarker for metastatic oral cancer. Arellano-Garcia ME, etal., Int J Mol Sci. 2010 Sep 2;11(9):3106-21. doi: 10.3390/ijms11093106.
2. The genetic association database. Becker KG, etal., Nat Genet. 2004 May;36(5):431-2.
3. Signaling by vitamin A and retinol-binding protein in regulation of insulin responses and lipid homeostasis. Berry DC and Noy N, Biochim Biophys Acta. 2012 Jan;1821(1):168-76. Epub 2011 Jul 12.
4. Differential post-translational modifications of transthyretin in Alzheimer's disease: a study of the cerebral spinal fluid. Biroccio A, etal., Proteomics. 2006 Apr;6(7):2305-13.
5. Biomarkers for the early detection of relapses in metastatic colorectal cancers. Chereches G, etal., J BUON. 2017 May-Jun;22(3):658-666.
6. Heat-shock protein 27: a potential biomarker for hepatocellular carcinoma identified by serum proteome analysis. Feng JT, etal., Proteomics. 2005 Nov;5(17):4581-8. doi: 10.1002/pmic.200401309.
7. Detection of colorectal adenoma and cancer based on transthyretin and C3a-desArg serum levels. Fentz AK, etal., Proteomics Clin Appl. 2007 Jun;1(6):536-44. doi: 10.1002/prca.200600664. Epub 2007 May 14.
8. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
9. Selective expression of transthyretin in subtypes of lung cancer. Hao S, etal., J Mol Histol. 2016 Jun;47(3):239-47. doi: 10.1007/s10735-016-9666-3. Epub 2016 Mar 4.
10. Ovarian hormones ameliorate memory impairment, cholinergic deficit, neuronal apoptosis and astrogliosis in a rat model of Alzheimer's disease. Hu Z, etal., Exp Ther Med. 2016 Jan;11(1):89-97. doi: 10.3892/etm.2015.2868. Epub 2015 Nov 13.
11. Aberrant proteins in the saliva of patients with oral squamous cell carcinoma. Jessie K, etal., Electrophoresis. 2013 Sep;34(17):2495-502. doi: 10.1002/elps.201300107. Epub 2013 Aug 2.
12. A combined biomarker pattern improves the discrimination of lung cancer. Liu L, etal., Biomarkers. 2011 Feb;16(1):20-30. doi: 10.3109/1354750X.2010.521257. Epub 2010 Oct 22.
13. Reduced transthyretin expression in sera of lung cancer. Liu L, etal., Cancer Sci. 2007 Oct;98(10):1617-24. doi: 10.1111/j.1349-7006.2007.00576.x. Epub 2007 Aug 7.
14. Serum levels of variants of transthyretin down-regulation in cholangiocarcinoma. Liu L, etal., J Cell Biochem. 2008 Jun 1;104(3):745-55. doi: 10.1002/jcb.21661.
15. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
16. Novel mutations in transthyretin gene associated with hepatocellular carcinoma. P Katare D, etal., Mol Carcinog. 2018 Jan;57(1):70-77. doi: 10.1002/mc.22732. Epub 2017 Sep 21.
17. A novel transthyretin mutation V32A in a Chinese man with late-onset amyloid polyneuropathy. Pica EC, etal., Muscle Nerve. 2005 Aug;32(2):223-5.
18. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
19. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
20. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
21. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
22. Early onset aggressive hereditary amyloidosis: report of an Italian family with TTR Arg47 mutation. Salvi F, etal., Neurol Sci. 2005 Jun;26(2):140-2.
23. Clinical significance of serum transthyretin level in patients with hepatocellular carcinoma. Shimura T, etal., ANZ J Surg. 2018 Dec;88(12):1328-1332. doi: 10.1111/ans.14458. Epub 2018 Mar 13.
24. Serum transthyretin level is associated with prognosis of patients with gastric cancer. Shimura T, etal., J Surg Res. 2018 Jul;227:145-150. doi: 10.1016/j.jss.2018.02.035. Epub 2018 Mar 15.
25. Prognostic impact of serum transthyretin in patients with non-small cell lung cancer. Shimura T, etal., Mol Clin Oncol. 2019 Jun;10(6):597-604. doi: 10.3892/mco.2019.1837. Epub 2019 Apr 3.
26. Combined proteomic approach with SELDI-TOF-MS and peptide mass fingerprinting identified the rapid increase of monomeric transthyretin in rat cerebrospinal fluid after transient focal cerebral ischemia. Suzuyama K, etal., Brain Res Mol Brain Res. 2004 Oct 22;129(1-2):44-53.
27. Expression of material mRNA in the hypothalamus and frontal cortex in a rat model of fatal hypothermia. Umehara T, etal., Leg Med (Tokyo). 2011 Jul;13(4):165-70. doi: 10.1016/j.legalmed.2011.01.005. Epub 2011 Mar 5.
28. Immunohistochemical Assessment of Transthyretin Association with Colorectal Adenocarcinoma. Wang B, etal., Clin Lab. 2021 Mar 1;67(3). doi: 10.7754/Clin.Lab.2020.200641.
29. Muscular amyloid angiopathy with amyloidgenic transthyretin Ser50Ile and Tyr114Cys. Yamashita T, etal., Muscle Nerve. 2005 Jan;31(1):41-5.
30. Serum proteome analysis for profiling protein markers associated with lymph node metastasis in colorectal carcinoma. Zhao L, etal., J Comp Pathol. 2011 Feb-Apr;144(2-3):187-94. doi: 10.1016/j.jcpa.2010.09.001. Epub 2010 Nov 12.
Additional References at PubMed
PMID:201845   PMID:574085   PMID:671542   PMID:986177   PMID:1301926   PMID:1351039   PMID:1356051   PMID:1362222   PMID:1436517   PMID:1517749   PMID:1520326   PMID:1520336  
PMID:1544214   PMID:1570831   PMID:1602151   PMID:1626570   PMID:1656975   PMID:1666289   PMID:1734866   PMID:1867256   PMID:1877623   PMID:1932142   PMID:1977686   PMID:1979335  
PMID:1981182   PMID:1997217   PMID:2015890   PMID:2046936   PMID:2122246   PMID:2161654   PMID:2174830   PMID:2320592   PMID:2360796   PMID:2363717   PMID:2613237   PMID:2693890  
PMID:2877582   PMID:2891727   PMID:2990465   PMID:2995367   PMID:3011930   PMID:3022107   PMID:3022108   PMID:3028932   PMID:3135807   PMID:3229002   PMID:3479441   PMID:3675594  
PMID:3714052   PMID:3722385   PMID:3760189   PMID:3762958   PMID:3818577   PMID:4044580   PMID:4054629   PMID:4216640   PMID:4328329   PMID:4607556   PMID:4952599   PMID:6087811  
PMID:6093805   PMID:6208668   PMID:6300852   PMID:6487335   PMID:6549130   PMID:6583672   PMID:6651852   PMID:7033114   PMID:7417777   PMID:7474944   PMID:7599630   PMID:7754382  
PMID:7794243   PMID:7839813   PMID:7850982   PMID:7910950   PMID:7914929   PMID:7923855   PMID:7946531   PMID:8019560   PMID:8038017   PMID:8081397   PMID:8089102   PMID:8095301  
PMID:8095302   PMID:8133316   PMID:8218290   PMID:8257997   PMID:8309582   PMID:8352764   PMID:8382610   PMID:8406434   PMID:8428915   PMID:8549676   PMID:8579098   PMID:8692810  
PMID:8784093   PMID:8857732   PMID:8960746   PMID:8990019   PMID:9191784   PMID:9307034   PMID:9771673   PMID:9771681   PMID:9789022   PMID:9818054   PMID:9818883   PMID:10052934  
PMID:10071047   PMID:10465115   PMID:10529370   PMID:10627135   PMID:10627502   PMID:10671063   PMID:10694917   PMID:10704770   PMID:10742177   PMID:10841549   PMID:10842705   PMID:10845569  
PMID:10854215   PMID:10882995   PMID:10982792   PMID:11106758   PMID:11243784   PMID:11385707   PMID:11418763   PMID:11445644   PMID:11478875   PMID:11577236   PMID:11709003   PMID:11853533  
PMID:11913969   PMID:11995997   PMID:12039669   PMID:12082059   PMID:12095258   PMID:12354101   PMID:12403615   PMID:12433265   PMID:12477932   PMID:12481032   PMID:12560553   PMID:12566023  
PMID:12593674   PMID:12665801   PMID:12697331   PMID:12771253   PMID:12874414   PMID:12874858   PMID:12876326   PMID:12900507   PMID:13367520   PMID:14506715   PMID:14507924   PMID:14534839  
PMID:14578606   PMID:14604984   PMID:14673473   PMID:14690414   PMID:14718574   PMID:14760718   PMID:14981241   PMID:15033978   PMID:15174051   PMID:15210129   PMID:15214015   PMID:15489334  
PMID:15610856   PMID:15649951   PMID:15736938   PMID:15821170   PMID:15930086   PMID:16011990   PMID:16053476   PMID:16076613   PMID:16079207   PMID:16114899   PMID:16130282   PMID:16159939  
PMID:16169070   PMID:16185074   PMID:16189514   PMID:16194875   PMID:16199891   PMID:16204882   PMID:16219761   PMID:16225852   PMID:16335952   PMID:16386248   PMID:16433699   PMID:16487493  
PMID:16502470   PMID:16690497   PMID:16698124   PMID:16716307   PMID:16716350   PMID:16732734   PMID:16751065   PMID:16751191   PMID:16879610   PMID:16892178   PMID:16893521   PMID:17062384  
PMID:17116243   PMID:17143887   PMID:17176092   PMID:17196219   PMID:17203960   PMID:17378745   PMID:17431395   PMID:17466336   PMID:17487420   PMID:17503405   PMID:17558848   PMID:17577688  
PMID:17630783   PMID:17671371   PMID:17683281   PMID:17698792   PMID:17873539   PMID:17957146   PMID:17968687   PMID:17968690   PMID:17980738   PMID:18022643   PMID:18221012   PMID:18237193  
PMID:18242169   PMID:18252270   PMID:18257091   PMID:18272491   PMID:18276611   PMID:18326041   PMID:18406527   PMID:18410945   PMID:18448869   PMID:18460047   PMID:18485534   PMID:18579156  
PMID:18624398   PMID:18655780   PMID:18662699   PMID:18682810   PMID:18688962   PMID:18807501   PMID:18825272   PMID:18830126   PMID:18835560   PMID:18925456   PMID:18930252   PMID:19021760  
PMID:19118530   PMID:19180884   PMID:19188365   PMID:19250316   PMID:19328595   PMID:19361464   PMID:19389624   PMID:19401362   PMID:19410571   PMID:19428025   PMID:19477408   PMID:19493541  
PMID:19501859   PMID:19601795   PMID:19602727   PMID:19626479   PMID:19626480   PMID:19664600   PMID:19703508   PMID:19781421   PMID:19808383   PMID:19861125   PMID:19913121   PMID:19922332  
PMID:19922456   PMID:20132088   PMID:20143571   PMID:20211733   PMID:20301373   PMID:20373457   PMID:20388560   PMID:20435197   PMID:20462367   PMID:20547140   PMID:20628086   PMID:20646067  
PMID:20659897   PMID:20660862   PMID:20697105   PMID:20735474   PMID:20736409   PMID:20840742   PMID:20949480   PMID:21056899   PMID:21077797   PMID:21104416   PMID:21135536   PMID:21174946  
PMID:21179560   PMID:21179887   PMID:21191093   PMID:21208750   PMID:21280184   PMID:21335655   PMID:21358362   PMID:21397913   PMID:21406045   PMID:21420946   PMID:21422279   PMID:21434877  
PMID:21439703   PMID:21461579   PMID:21521316   PMID:21537325   PMID:21540676   PMID:21600538   PMID:21714897   PMID:21733562   PMID:21739396   PMID:21740906   PMID:21777382   PMID:21821015  
PMID:21841252   PMID:21843040   PMID:21873635   PMID:21878437   PMID:21880910   PMID:21900206   PMID:21945519   PMID:21945954   PMID:22002789   PMID:22027013   PMID:22045754   PMID:22080762  
PMID:22091638   PMID:22102249   PMID:22120741   PMID:22169613   PMID:22187309   PMID:22228785   PMID:22248451   PMID:22264585   PMID:22301727   PMID:22311483   PMID:22362898   PMID:22412233  
PMID:22439750   PMID:22579241   PMID:22592564   PMID:22607976   PMID:22670059   PMID:22698061   PMID:22784244   PMID:22795285   PMID:22826435   PMID:22842046   PMID:22844532   PMID:22847813  
PMID:22889670   PMID:22928869   PMID:22948197   PMID:22949539   PMID:22968245   PMID:22975527   PMID:22984597   PMID:23079095   PMID:23129325   PMID:23133543   PMID:23185504   PMID:23225005  
PMID:23225009   PMID:23225017   PMID:23240369   PMID:23244293   PMID:23279339   PMID:23306657   PMID:23319365   PMID:23376485   PMID:23385359   PMID:23387326   PMID:23414091   PMID:23438977  
PMID:23465306   PMID:23523753   PMID:23533145   PMID:23546595   PMID:23579071   PMID:23580146   PMID:23623341   PMID:23713495   PMID:23716704   PMID:23734638   PMID:23792159   PMID:23850452  
PMID:23860318   PMID:23901247   PMID:24030829   PMID:24035612   PMID:24053266   PMID:24070596   PMID:24113303   PMID:24164623   PMID:24182678   PMID:24184229   PMID:24390749   PMID:24455802  
PMID:24474780   PMID:24480837   PMID:24528201   PMID:24555660   PMID:24563469   PMID:24648510   PMID:24661308   PMID:24667918   PMID:24690176   PMID:24779883   PMID:24781992   PMID:24849358  
PMID:24945718   PMID:25018619   PMID:25060417   PMID:25086037   PMID:25091367   PMID:25245430   PMID:25367359   PMID:25372741   PMID:25372987   PMID:25395306   PMID:25416956   PMID:25478940  
PMID:25509863   PMID:25550818   PMID:25551524   PMID:25644864   PMID:25721874   PMID:25737004   PMID:25743445   PMID:25857202   PMID:25872787   PMID:25910794   PMID:25940564   PMID:26003908  
PMID:26208400   PMID:26249340   PMID:26369527   PMID:26428663   PMID:26444765   PMID:26459562   PMID:26527142   PMID:26565908   PMID:26587769   PMID:26656838   PMID:26796656   PMID:26828956  
PMID:26837706   PMID:26998642   PMID:27051017   PMID:27099354   PMID:27206384   PMID:27212199   PMID:27238058   PMID:27382986   PMID:27386769   PMID:27501389   PMID:27562180   PMID:27589730  
PMID:27618855   PMID:27650990   PMID:27693925   PMID:27720586   PMID:27859927   PMID:28145481   PMID:28218749   PMID:28314625   PMID:28335735   PMID:28412068   PMID:28434373   PMID:28460244  
PMID:28478513   PMID:28484271   PMID:28508289   PMID:28514442   PMID:28556268   PMID:28563699   PMID:28570028   PMID:28635949   PMID:28780366   PMID:28920433   PMID:28941045   PMID:28950253  
PMID:28983659   PMID:29040977   PMID:29052438   PMID:29177547   PMID:29330472   PMID:29465889   PMID:29481863   PMID:29564986   PMID:29607936   PMID:29626847   PMID:29743537   PMID:29747616  
PMID:29791485   PMID:29892012   PMID:29915031   PMID:29941560   PMID:29972637   PMID:29997244   PMID:30039724   PMID:30213975   PMID:30328212   PMID:30361054   PMID:30383932   PMID:30414409  
PMID:30540442   PMID:30549985   PMID:30561431   PMID:30567728   PMID:30572722   PMID:30663397   PMID:30683924   PMID:30688105   PMID:30733338   PMID:30745168   PMID:30793974   PMID:30804345  
PMID:30981840   PMID:30984535   PMID:31074293   PMID:31135236   PMID:31257920   PMID:31343297   PMID:31343308   PMID:31343312   PMID:31343338   PMID:31358790   PMID:31399624   PMID:31515488  
PMID:31593646   PMID:31659433   PMID:31676294   PMID:31728576   PMID:31740141   PMID:31821430   PMID:31826067   PMID:31933485   PMID:31949094   PMID:32024385   PMID:32131641   PMID:32197355  
PMID:32296183   PMID:32324953   PMID:32338497   PMID:32353608   PMID:32393063   PMID:32395865   PMID:32400202   PMID:32425064   PMID:32441155   PMID:32456532   PMID:32457219   PMID:32571879  
PMID:32578459   PMID:32583220   PMID:32633140   PMID:32707033   PMID:32735824   PMID:32769117   PMID:32788615   PMID:32811187   PMID:32814053   PMID:32829019   PMID:32833564   PMID:32856080  
PMID:32866461   PMID:32883119   PMID:32893242   PMID:32994444   PMID:32996337   PMID:32998138   PMID:33112011   PMID:33203445   PMID:33212973   PMID:33237279   PMID:33345470   PMID:33394315  
PMID:33461327   PMID:33686575   PMID:33739616   PMID:33768376   PMID:33894415   PMID:33928732   PMID:33929491   PMID:33957237   PMID:33961781   PMID:34079032   PMID:34206500   PMID:34343569  
PMID:34359938   PMID:34380564   PMID:34461735   PMID:34461737   PMID:34483316   PMID:34502397   PMID:34518987   PMID:34634447   PMID:34732716   PMID:34781605   PMID:34876572   PMID:34980537  
PMID:34988604   PMID:35115086   PMID:35156780   PMID:35337019   PMID:35352593   PMID:35377943   PMID:35384245   PMID:35607996   PMID:35929637   PMID:36095012   PMID:36278951   PMID:36772971  
PMID:36796540   PMID:36796722   PMID:36851846   PMID:36912080   PMID:36930136   PMID:36947059   PMID:36964488   PMID:37004943   PMID:37264308   PMID:37439769   PMID:37486082   PMID:37688511  
PMID:37740174   PMID:37946256   PMID:37993462   PMID:38008337   PMID:38085831   PMID:38184135   PMID:38289614   PMID:38399526   PMID:38486098   PMID:38626647   PMID:38769233   PMID:38775614  
PMID:38843135   PMID:38909653   PMID:38925327   PMID:38946492   PMID:39133861  


Genomics

Comparative Map Data
TTR
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381831,591,877 - 31,598,821 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1831,557,009 - 31,598,833 (+)EnsemblGRCh38hg38GRCh38
GRCh371829,171,840 - 29,178,784 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361827,425,838 - 27,432,781 (+)NCBINCBI36Build 36hg18NCBI36
Build 341827,425,837 - 27,432,781NCBI
Celera1825,978,845 - 25,986,103 (+)NCBICelera
Cytogenetic Map18q12.1NCBI
HuRef1826,028,609 - 26,035,866 (+)NCBIHuRef
CHM1_11829,099,038 - 29,106,294 (+)NCBICHM1_1
T2T-CHM13v2.01831,782,391 - 31,789,335 (+)NCBIT2T-CHM13v2.0
Ttr
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391820,797,266 - 20,807,383 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1820,798,337 - 20,807,378 (+)EnsemblGRCm39 Ensembl
GRCm381820,664,209 - 20,674,326 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1820,665,280 - 20,674,321 (+)EnsemblGRCm38mm10GRCm38
MGSCv371820,823,751 - 20,832,827 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361820,808,423 - 20,817,329 (+)NCBIMGSCv36mm8
Celera1821,160,622 - 21,169,698 (+)NCBICelera
Cytogenetic Map18A2NCBI
cM Map1811.47NCBI
Ttr
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81812,216,684 - 12,225,972 (+)NCBIGRCr8
mRatBN7.21811,941,791 - 11,951,008 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1811,943,789 - 11,951,008 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1812,139,290 - 12,146,732 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01812,926,943 - 12,934,381 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01812,198,580 - 12,206,019 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01815,532,963 - 15,542,180 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1815,532,963 - 15,540,177 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01815,307,563 - 15,316,780 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41812,406,571 - 12,413,680 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11812,433,216 - 12,440,326 (+)NCBI
Celera1811,951,406 - 11,958,617 (+)NCBICelera
RH 3.4 Map1891.82RGD
Cytogenetic Map18p12NCBI
Ttr
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540218,921,274 - 18,928,108 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540218,921,235 - 18,927,976 (+)NCBIChiLan1.0ChiLan1.0
TTR
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21748,984,354 - 48,991,368 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11834,676,950 - 34,683,964 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01824,809,707 - 24,816,713 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11828,407,893 - 28,414,960 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1828,407,893 - 28,414,960 (+)Ensemblpanpan1.1panPan2
TTR
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1757,940,354 - 57,947,084 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl757,914,381 - 57,947,058 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha757,377,465 - 57,384,221 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0757,925,488 - 57,932,242 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl757,925,494 - 58,154,308 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1757,602,079 - 57,608,835 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0757,628,089 - 57,634,838 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0757,917,256 - 57,924,010 (-)NCBIUU_Cfam_GSD_1.0
Ttr
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494453,626,908 - 53,633,974 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366821,628,341 - 1,635,566 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366821,628,489 - 1,635,495 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TTR
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6115,496,326 - 115,503,977 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16115,496,338 - 115,503,974 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.26108,123,921 - 108,131,547 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TTR
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11849,124,302 - 49,131,495 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1849,124,121 - 49,131,399 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605023,774,027 - 23,781,168 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ttr
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247701,251,716 - 1,262,213 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247701,255,401 - 1,262,019 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TTR
341 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000371.4(TTR):c.62G>C (p.Gly21Ala) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000542108]|Cardiomyopathy [RCV003150270]|Cardiovascular phenotype [RCV004024152] Chr18:31591964 [GRCh38]
Chr18:29171927 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.220G>C (p.Glu74Gln) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001857934]|Cardiovascular phenotype [RCV002431479]|not specified [RCV000518274] Chr18:31595139 [GRCh38]
Chr18:29175102 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic|uncertain significance
NM_000371.4(TTR):c.208A>C (p.Ser70Arg) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000030571] Chr18:31595127 [GRCh38]
Chr18:29175090 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_000371.4(TTR):c.210T>A (p.Ser70Arg) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000030572]|Cardiovascular phenotype [RCV002415438]|not provided [RCV000517494] Chr18:31595129 [GRCh38]
Chr18:29175092 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_000371.4(TTR):c.336+19G>A single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000030573]|Cardiovascular phenotype [RCV002321492]|Charcot-Marie-Tooth disease [RCV001173305]|TTR-related disorder [RCV004549394]|not provided [RCV000723872]|not specified [RCV000244982] Chr18:31595274 [GRCh38]
Chr18:29175237 [GRCh37]
Chr18:18q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000371.4(TTR):c.337-18G>C single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV002054527]|Cardiomyopathy [RCV000030574]|Cardiovascular phenotype [RCV002453274]|Charcot-Marie-Tooth disease [RCV001173542]|not provided [RCV001711094]|not specified [RCV000248110] Chr18:31598550 [GRCh38]
Chr18:29178513 [GRCh37]
Chr18:18q12.1		 benign
NM_000371.4(TTR):c.424G>A (p.Val142Ile) single nucleotide variant ATTRV122I amyloidosis [RCV000853387]|Amyloidosis [RCV004798727]|Amyloidosis, hereditary systemic 1 [RCV000014368]|Anemia [RCV000735409]|Cardiomyopathy [RCV000211747]|Cardiovascular phenotype [RCV000243161]|Charcot-Marie-Tooth disease [RCV001173290]|Hyperthyroxinemia, dystransthyretinemic [RCV002476965]|TTR-related disorder [RCV003335038]|Tip-toe gait [RCV003319166]|not provided [RCV000078674] Chr18:31598655 [GRCh38]
Chr18:31598655..31598656 [GRCh38]
Chr18:29178618 [GRCh37]
Chr18:29178618..29178619 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic|no classifications from unflagged records|not provided
NM_000371.4(TTR):c.148G>A (p.Val50Met) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000014359]|Cardiomyopathy [RCV000770555]|Cardiovascular phenotype [RCV002390106]|Charcot-Marie-Tooth disease [RCV001173292]|Hyperthyroxinemia, dystransthyretinemic [RCV002476964]|TTR-related disorder [RCV004549361]|not provided [RCV000159423] Chr18:31592974 [GRCh38]
Chr18:29172937 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_000371.4(TTR):c.157T>A (p.Phe53Ile) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000014360] Chr18:31592983 [GRCh38]
Chr18:29172946 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_000371.4(TTR):c.401A>G (p.Tyr134Cys) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000014361]|Cardiovascular phenotype [RCV002354160]|not provided [RCV001582481] Chr18:31598632 [GRCh38]
Chr18:29178595 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_000371.4(TTR):c.233T>A (p.Leu78His) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000014362]|Cardiovascular phenotype [RCV002444430]|not provided [RCV000159437] Chr18:31595152 [GRCh38]
Chr18:29175115 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_000371.4(TTR):c.290C>A (p.Ser97Tyr) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000014364]|Cardiovascular phenotype [RCV002433454]|Charcot-Marie-Tooth disease [RCV001173289]|Hyperthyroxinemia, dystransthyretinemic [RCV002504783]|not provided [RCV000519257]|not specified [RCV001000742] Chr18:31595209 [GRCh38]
Chr18:29175172 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_000371.4(TTR):c.311T>G (p.Ile104Ser) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000014365]|Cardiovascular phenotype [RCV002321479]|not provided [RCV001810859] Chr18:31595230 [GRCh38]
Chr18:29175193 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_000371.4(TTR):c.391C>A (p.Leu131Met) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000014366]|Cardiovascular phenotype [RCV003162251] Chr18:31598622 [GRCh38]
Chr18:29178585 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
TTR, TYR116VAL variation TRANSTHYRETIN POLYMORPHISM [RCV000014367] Chr18:18q11.2-q12.1 benign
NM_000371.4(TTR):c.328C>A (p.His110Asn) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000014369]|Cardiomyopathy [RCV000770556]|Cardiovascular phenotype [RCV000621211]|Charcot-Marie-Tooth disease [RCV001173306]|Heart failure [RCV000852746]|Hypertrophic cardiomyopathy 1 [RCV001256816]|not provided [RCV000857889]|not specified [RCV000152541] Chr18:31595247 [GRCh38]
Chr18:29175210 [GRCh37]
Chr18:18q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_000371.4(TTR):c.185A>G (p.Glu62Gly) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000014370] Chr18:31593011 [GRCh38]
Chr18:29172974 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_000371.4(TTR):c.210T>G (p.Ser70Arg) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000014371]|Cardiovascular phenotype [RCV002415415]|not provided [RCV003480030] Chr18:31595129 [GRCh38]
Chr18:29175092 [GRCh37]
Chr18:18q12.1		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000371.4(TTR):c.149T>C (p.Val50Ala) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000014372] Chr18:31592975 [GRCh38]
Chr18:29172938 [GRCh37]
Chr18:18q12.1		 pathogenic
A109T variation Hyperthyroxinemia, dystransthyretinemic [RCV000014373] Chr18:18q11.2-q12.1 pathogenic|affects
NM_000371.4(TTR):c.166G>C (p.Ala56Pro) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000014374] Chr18:31592992 [GRCh38]
Chr18:29172955 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_000371.4(TTR):c.416C>T (p.Thr139Met) single nucleotide variant AMYLOIDOSIS, HEREDITARY SYSTEMIC 1, MODIFIER OF [RCV000014376]|Amyloidosis, hereditary systemic 1 [RCV000990084]|Cardiomyopathy [RCV001170385]|Cardiovascular phenotype [RCV000618448]|Charcot-Marie-Tooth disease [RCV001173303]|Hyperthyroxinemia, dystransthyretinemic [RCV003993656]|not provided [RCV000714134]|not specified [RCV000036376] Chr18:31598647 [GRCh38]
Chr18:29178610 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic|risk factor|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000371.4(TTR):c.233T>G (p.Leu78Arg) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000014377] Chr18:31595152 [GRCh38]
Chr18:29175115 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_000371.4(TTR):c.199G>C (p.Gly67Arg) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000014378] Chr18:31593025 [GRCh38]
Chr18:29172988 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_000371.4(TTR):c.133G>A (p.Ala45Thr) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000014379] Chr18:31592959 [GRCh38]
Chr18:29172922 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_000371.4(TTR):c.224T>C (p.Leu75Pro) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000014380] Chr18:31595143 [GRCh38]
Chr18:29175106 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_000371.4(TTR):c.209G>T (p.Ser70Ile) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000014381] Chr18:31595128 [GRCh38]
Chr18:29175091 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_000371.4(TTR):c.148G>C (p.Val50Leu) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000014382]|Cardiovascular phenotype [RCV002390107]|Charcot-Marie-Tooth disease [RCV001173291] Chr18:31592974 [GRCh38]
Chr18:29172937 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_000371.4(TTR):c.205A>G (p.Thr69Ala) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000014383] Chr18:31595124 [GRCh38]
Chr18:29175087 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_000371.4(TTR):c.325G>C (p.Glu109Gln) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000014384]|Cardiovascular phenotype [RCV002321480]|not provided [RCV000236028] Chr18:31595244 [GRCh38]
Chr18:29175207 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_000371.4(TTR):c.270A>C (p.Lys90Asn) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000014385] Chr18:31595189 [GRCh38]
Chr18:29175152 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_000371.4(TTR):c.88T>C (p.Cys30Arg) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000014386]|Cardiovascular phenotype [RCV003298033]|not provided [RCV000993524] Chr18:31592914 [GRCh38]
Chr18:29172877 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000371.4(TTR):c.272T>C (p.Val91Ala) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000014387] Chr18:31595191 [GRCh38]
Chr18:29175154 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_000371.4(TTR):c.262A>T (p.Ile88Leu) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000014388]|Cardiovascular phenotype [RCV002426503]|Hyperthyroxinemia, dystransthyretinemic [RCV002476966]|not provided [RCV001288934] Chr18:31595181 [GRCh38]
Chr18:29175144 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_000371.4(TTR):c.241G>A (p.Glu81Lys) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000014389]|Cardiovascular phenotype [RCV002453259] Chr18:31595160 [GRCh38]
Chr18:29175123 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_000371.4(TTR):c.350C>G (p.Ala117Gly) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000014390] Chr18:31598581 [GRCh38]
Chr18:29178544 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_000371.4(TTR):c.400T>C (p.Tyr134His) single nucleotide variant Carpal tunnel syndrome 1 [RCV000014391] Chr18:31598631 [GRCh38]
Chr18:29178594 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_000371.4(TTR):c.379A>G (p.Ile127Val) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000014392]|Cardiovascular phenotype [RCV002354161]|Hereditary amyloidosis [RCV003458163]|Hyperthyroxinemia, dystransthyretinemic [RCV002504784]|not provided [RCV001090344]|not specified [RCV000506089] Chr18:31598610 [GRCh38]
Chr18:29178573 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_000371.4(TTR):c.200G>C (p.Gly67Ala) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000014393]|Cardiovascular phenotype [RCV002415416]|not provided [RCV000516227] Chr18:31593026 [GRCh38]
Chr18:29172989 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_000371.4(TTR):c.76G>A (p.Gly26Ser) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001127884]|Cardiovascular phenotype [RCV000250966]|Charcot-Marie-Tooth disease [RCV001173541]|Hyperthyroxinemia, dystransthyretinemic [RCV002496358]|Hypertrophic cardiomyopathy [RCV003125830]|TRANSTHYRETIN POLYMORPHISM [RCV000014394]|not provided [RCV001711070]|not specified [RCV000036379] Chr18:31592902 [GRCh38]
Chr18:29172865 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_000371.4(TTR):c.250T>C (p.Phe84Leu) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000014395]|Cardiovascular phenotype [RCV002433455]|Carpal tunnel syndrome [RCV000763027]|not provided [RCV000236623] Chr18:31595169 [GRCh38]
Chr18:29175132 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000371.4(TTR):c.386C>T (p.Ala129Val) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001056317]|Cardiovascular phenotype [RCV002354162]|Charcot-Marie-Tooth disease [RCV001173297]|Hyperthyroxinemia, dystransthyretinemic [RCV000014396]|not provided [RCV000714133] Chr18:31598617 [GRCh38]
Chr18:29178580 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic|affects|uncertain significance
NM_000371.4(TTR):c.118G>A (p.Val40Ile) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000014397]|Cardiovascular phenotype [RCV002336083]|not provided [RCV000159420] Chr18:31592944 [GRCh38]
Chr18:29172907 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_000371.4(TTR):c.157T>C (p.Phe53Leu) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000014398]|Cardiovascular phenotype [RCV002390108]|not provided [RCV001810860] Chr18:31592983 [GRCh38]
Chr18:29172946 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_000371.4(TTR):c.95T>C (p.Leu32Pro) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000014399]|not specified [RCV001001339] Chr18:31592921 [GRCh38]
Chr18:29172884 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_000371.4(TTR):c.371G>A (p.Arg124His) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000014400]|Cardiomyopathy [RCV001170383]|Cardiovascular phenotype [RCV000621591]|Charcot-Marie-Tooth disease [RCV001173296]|not provided [RCV000586735]|not specified [RCV000152543] Chr18:31598602 [GRCh38]
Chr18:29178565 [GRCh37]
Chr18:18q12.1		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000371.4(TTR):c.199G>A (p.Gly67Arg) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000014401] Chr18:31593025 [GRCh38]
Chr18:29172988 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_000371.4(TTR):c.191T>C (p.Phe64Ser) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000014403]|Cardiovascular phenotype [RCV002408461] Chr18:31593017 [GRCh38]
Chr18:29172980 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_000371.4(TTR):c.218G>A (p.Gly73Glu) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV004555832] Chr18:31595137 [GRCh38]
Chr18:29175100 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_000371.4(TTR):c.113A>G (p.Asp38Gly) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000036373] Chr18:31592939 [GRCh38]
Chr18:29172902 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_000371.4(TTR):c.149T>G (p.Val50Gly) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001857350] Chr18:31592975 [GRCh38]
Chr18:29172938 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_000371.4(TTR):c.265T>C (p.Tyr89His) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000586493]|Cardiovascular phenotype [RCV002426504]|not provided [RCV001811140] Chr18:31595184 [GRCh38]
Chr18:29175147 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
A25T variation AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED [RCV000014409] Chr18:18q11.2-q12.1 pathogenic
NM_000371.4(TTR):c.349G>T (p.Ala117Ser) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000014410]|Cardiovascular phenotype [RCV002453260]|Hyperthyroxinemia, dystransthyretinemic [RCV002496359]|not provided [RCV000223869] Chr18:31598580 [GRCh38]
Chr18:29178543 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000371.4(TTR):c.194C>T (p.Ala65Val) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001054408]|Cardiovascular phenotype [RCV002420303]|not specified [RCV000518305] Chr18:31593020 [GRCh38]
Chr18:29172983 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic|uncertain significance
NM_000371.4(TTR):c.238A>G (p.Thr80Ala) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000014363]|Cardiomyopathy [RCV000852477]|Cardiovascular phenotype [RCV002453258]|Charcot-Marie-Tooth disease [RCV001173293]|not provided [RCV000159427] Chr18:31595157 [GRCh38]
Chr18:29175120 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000371.4(TTR):c.421GTC[1] (p.Val142del) microsatellite Amyloidosis, hereditary systemic 1 [RCV000014402]|not provided [RCV004791221] Chr18:31598652..31598654 [GRCh38]
Chr18:29178615..29178617 [GRCh37]
Chr18:18q12.1		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000371.4(TTR):c.*3_*11del deletion Cardiomyopathy [RCV000770563]|Cardiovascular phenotype [RCV000618035]|Charcot-Marie-Tooth disease [RCV001173543]|not provided [RCV000590565]|not specified [RCV000036372] Chr18:31598678..31598686 [GRCh38]
Chr18:29178641..29178649 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_000371.4(TTR):c.360C>T (p.Ser120=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000206233]|Cardiomyopathy [RCV000770560]|Cardiovascular phenotype [RCV000253403]|Charcot-Marie-Tooth disease [RCV001173544]|TTR-related disorder [RCV004549443]|not provided [RCV000589654]|not specified [RCV000036374] Chr18:31598591 [GRCh38]
Chr18:29178554 [GRCh37]
Chr18:18q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000371.4(TTR):c.385G>A (p.Ala129Thr) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000548533]|Cardiomyopathy [RCV003149627]|Cardiovascular phenotype [RCV000619844]|Hyperthyroxinemia, dystransthyretinemic [RCV002290958]|Hyperthyroxinemia, dystransthyretinemic [RCV002482974]|not provided [RCV000755423]|not specified [RCV000036375] Chr18:31598616 [GRCh38]
Chr18:29178579 [GRCh37]
Chr18:18q12.1		 affects|uncertain significance
NM_000371.4(TTR):c.417G>A (p.Thr139=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001081376]|Cardiomyopathy [RCV001170611]|Cardiovascular phenotype [RCV000248562]|Charcot-Marie-Tooth disease [RCV001173304]|not provided [RCV000587633]|not specified [RCV000036377] Chr18:31598648 [GRCh38]
Chr18:29178611 [GRCh37]
Chr18:18q12.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000371.4(TTR):c.68C>T (p.Thr23Met) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001071114]|Cardiovascular phenotype [RCV004018793]|Hyperthyroxinemia, dystransthyretinemic [RCV002482975]|not provided [RCV001719730]|not specified [RCV000036378] Chr18:31591970 [GRCh38]
Chr18:29171933 [GRCh37]
Chr18:18q12.1		 pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 18q12.1-12.3(chr18:29444510-40403652)x1 copy number loss See cases [RCV000051090] Chr18:29444510..40403652 [GRCh38]
Chr18:27024475..37983616 [GRCh37]
Chr18:25278473..36237614 [NCBI36]
Chr18:18q12.1-12.3		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3 copy number gain See cases [RCV000052543] Chr18:20960320..80234429 [GRCh38]
Chr18:18540281..77992312 [GRCh37]
Chr18:16794279..76093303 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3 copy number gain See cases [RCV000052549] Chr18:20989762..80209986 [GRCh38]
Chr18:18569723..77967869 [GRCh37]
Chr18:16823721..76068860 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.1-22.1(chr18:29249202-65448117)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|See cases [RCV000052563] Chr18:29249202..65448117 [GRCh38]
Chr18:26829167..63115353 [GRCh37]
Chr18:25083165..61266333 [NCBI36]
Chr18:18q12.1-22.1		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.1(chr18:29879161-31727247)x3 copy number gain See cases [RCV000054082] Chr18:29879161..31727247 [GRCh38]
Chr18:27459126..29307210 [GRCh37]
Chr18:25713124..27561208 [NCBI36]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.70-7C>T single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000647360]|Cardiomyopathy [RCV000769525]|Charcot-Marie-Tooth disease [RCV001173545]|Hyperthyroxinemia, dystransthyretinemic [RCV002498613]|not specified [RCV000126172] Chr18:31592889 [GRCh38]
Chr18:29172852 [GRCh37]
Chr18:18q12.1		 benign|likely benign
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23		 pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.1(chr18:31173251-31677694)x3 copy number gain See cases [RCV000140924] Chr18:31173251..31677694 [GRCh38]
Chr18:28753214..29257657 [GRCh37]
Chr18:27007212..27511655 [NCBI36]
Chr18:18q12.1		 uncertain significance
GRCh38/hg38 18q11.1-12.1(chr18:20949378-34363455)x3 copy number gain See cases [RCV000141646] Chr18:20949378..34363455 [GRCh38]
Chr18:18529339..31943419 [GRCh37]
Chr18:16783337..30197417 [NCBI36]
Chr18:18q11.1-12.1		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3 copy number gain See cases [RCV000142226] Chr18:20941324..40360620 [GRCh38]
Chr18:18521285..37940584 [GRCh37]
Chr18:16775283..36194582 [NCBI36]
Chr18:18q11.1-12.3		 pathogenic
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3 copy number gain See cases [RCV000143057] Chr18:20962119..74691446 [GRCh38]
Chr18:18542080..72403402 [GRCh37]
Chr18:16796078..70532390 [NCBI36]
Chr18:18q11.1-22.3		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
NM_000371.4(TTR):c.140A>G (p.Asn47Ser) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000228167]|Cardiovascular phenotype [RCV002390349]|Hyperthyroxinemia, dystransthyretinemic [RCV002484933]|not provided [RCV000766992]|not specified [RCV000155020] Chr18:31592966 [GRCh38]
Chr18:29172929 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.190T>C (p.Phe64Leu) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000474349]|Cardiomyopathy [RCV001798511]|Cardiovascular phenotype [RCV002408691]|Charcot-Marie-Tooth disease [RCV001173294]|not provided [RCV000766993]|not specified [RCV000155021] Chr18:31593016 [GRCh38]
Chr18:29172979 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000371.4(TTR):c.354C>T (p.Asn118=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001081876]|Cardiomyopathy [RCV000770557]|Cardiovascular phenotype [RCV000242314]|TTR-related disorder [RCV004739478]|not provided [RCV000460535]|not specified [RCV000152542] Chr18:31598585 [GRCh38]
Chr18:29178548 [GRCh37]
Chr18:18q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000371.4(TTR):c.337-14_337-11del microsatellite Amyloidosis, hereditary systemic 1 [RCV001374654]|Cardiomyopathy [RCV000159406]|Cardiovascular phenotype [RCV002453514]|not provided [RCV000586853]|not specified [RCV000155419] Chr18:31598547..31598550 [GRCh38]
Chr18:29178510..29178513 [GRCh37]
Chr18:18q12.1		 benign|likely benign|uncertain significance|not provided
NM_000371.3:c.*3_11delGACTTCTCC deletion Cardiomyopathy [RCV000159418] Chr18:18q12.1 likely benign
NM_000371.4(TTR):c.355G>A (p.Asp119Asn) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000697928]|Cardiovascular phenotype [RCV002336372]|Charcot-Marie-Tooth disease [RCV001173299]|not provided [RCV000756859] Chr18:31598586 [GRCh38]
Chr18:29178549 [GRCh37]
Chr18:18q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000371.4(TTR):c.439G>T (p.Glu147Ter) single nucleotide variant Cardiovascular phenotype [RCV002326913]|not specified [RCV000159417] Chr18:31598670 [GRCh38]
Chr18:29178633 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_000371.4(TTR):c.130C>T (p.Pro44Ser) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000560691]|Cardiovascular phenotype [RCV002381523]|not provided [RCV000159421] Chr18:31592956 [GRCh38]
Chr18:29172919 [GRCh37]
Chr18:18q12.1		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000371.4(TTR):c.236C>A (p.Thr79Lys) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003514316]|not provided [RCV000159426] Chr18:31595155 [GRCh38]
Chr18:29175118 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_000371.4(TTR):c.280G>C (p.Asp94His) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000647355]|Cardiovascular phenotype [RCV002433710]|Charcot-Marie-Tooth disease [RCV001173300]|Hyperthyroxinemia, dystransthyretinemic [RCV002478482]|not provided [RCV000725937]|not specified [RCV001731489] Chr18:31595199 [GRCh38]
Chr18:29175162 [GRCh37]
Chr18:18q12.1		 likely pathogenic|uncertain significance
NM_000371.4(TTR):c.301G>A (p.Ala101Thr) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001064362]|Cardiovascular phenotype [RCV002433711]|Hyperthyroxinemia, dystransthyretinemic [RCV002484992]|not provided [RCV000589902]|not specified [RCV000193128] Chr18:31595220 [GRCh38]
Chr18:29175183 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000371.4(TTR):c.14G>A (p.Arg5His) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000474573]|Cardiomyopathy [RCV000769524]|Cardiovascular phenotype [RCV000246043]|Charcot-Marie-Tooth disease [RCV001173539]|TTR-related disorder [RCV004551363]|not provided [RCV000996672]|not specified [RCV000159430] Chr18:31591916 [GRCh38]
Chr18:29171879 [GRCh37]
Chr18:18q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000371.4(TTR):c.368G>A (p.Arg123His) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000457018]|Cardiomyopathy [RCV003149966]|Cardiovascular phenotype [RCV002345547]|Charcot-Marie-Tooth disease [RCV001173301]|Hyperthyroxinemia, dystransthyretinemic [RCV002478483]|Primary familial hypertrophic cardiomyopathy [RCV000845370]|not provided [RCV000159431]|not specified [RCV001818348] Chr18:31598599 [GRCh38]
Chr18:29178562 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.397C>T (p.Pro133Ser) single nucleotide variant not provided [RCV000159432] Chr18:31598628 [GRCh38]
Chr18:29178591 [GRCh37]
Chr18:18q12.1		 likely pathogenic|uncertain significance
NM_000371.4(TTR):c.407A>C (p.Tyr136Ser) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003514317]|not provided [RCV000223926] Chr18:31598638 [GRCh38]
Chr18:29178601 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_000371.4(TTR):c.220_221inv (p.Glu74Ser) inversion Amyloidosis, hereditary systemic 1 [RCV000799247]|Cardiovascular phenotype [RCV002426784]|not provided [RCV000159435] Chr18:31595139..31595140 [GRCh38]
Chr18:29175102..29175103 [GRCh37]
Chr18:18q12.1		 likely pathogenic|uncertain significance
NM_000371.4(TTR):c.194C>A (p.Ala65Asp) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001228889]|not provided [RCV000159436] Chr18:31593020 [GRCh38]
Chr18:29172983 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_000371.4(TTR):c.283A>T (p.Thr95Ser) single nucleotide variant not provided [RCV000159438] Chr18:31595202 [GRCh38]
Chr18:29175165 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.296G>A (p.Trp99Ter) single nucleotide variant not provided [RCV000159439] Chr18:31595215 [GRCh38]
Chr18:29175178 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.52T>G (p.Ser18Ala) single nucleotide variant not provided [RCV000159440] Chr18:31591954 [GRCh38]
Chr18:29171917 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.437A>G (p.Lys146Arg) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001084678]|Cardiovascular phenotype [RCV000620635]|not provided [RCV000590383] Chr18:31598668 [GRCh38]
Chr18:29178631 [GRCh37]
Chr18:18q12.1		 benign|likely benign|uncertain significance
NM_000371.4(TTR):c.384C>T (p.Ala128=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001086449]|Cardiomyopathy [RCV001170384]|Cardiovascular phenotype [RCV002354458]|Charcot-Marie-Tooth disease [RCV001173307]|TTR-related disorder [RCV004553003]|not provided [RCV000724798]|not specified [RCV000178080] Chr18:31598615 [GRCh38]
Chr18:29178578 [GRCh37]
Chr18:18q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_000371.4(TTR):c.337-13T>C single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV002517520]|Charcot-Marie-Tooth disease [RCV001173308]|not specified [RCV000223469] Chr18:31598555 [GRCh38]
Chr18:29178518 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.418G>T (p.Ala140Ser) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000809803]|Cardiovascular phenotype [RCV002327093]|not provided [RCV000588714]|not specified [RCV000217098] Chr18:31598649 [GRCh38]
Chr18:29178612 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic|uncertain significance
NM_000371.4(TTR):c.337-3T>C single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000540460]|Cardiovascular phenotype [RCV000621559]|not provided [RCV000786264]|not specified [RCV000214127] Chr18:31598565 [GRCh38]
Chr18:29178528 [GRCh37]
Chr18:18q12.1		 benign|uncertain significance
NM_000371.4(TTR):c.327G>T (p.Glu109Asp) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003626611]|Cardiovascular phenotype [RCV002444876]|not specified [RCV000223752] Chr18:31595246 [GRCh38]
Chr18:29175209 [GRCh37]
Chr18:18q12.1		 pathogenic|uncertain significance
NM_000371.4(TTR):c.136A>G (p.Ile46Val) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000796860]|Hyperthyroxinemia, dystransthyretinemic [RCV002487098]|not provided [RCV000235774] Chr18:31592962 [GRCh38]
Chr18:29172925 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.122G>A (p.Arg41Gln) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000661976]|Cardiovascular phenotype [RCV003343724]|Carpal tunnel syndrome [RCV000661977]|not provided [RCV000236425] Chr18:31592948 [GRCh38]
Chr18:29172911 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.25C>T (p.Leu9Phe) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000647356]|not provided [RCV000236970] Chr18:31591927 [GRCh38]
Chr18:29171890 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3 copy number gain See cases [RCV000240476] Chr18:18548019..77954165 [GRCh37]
Chr18:18q11.1-23		 pathogenic
NM_000371.4(TTR):c.13C>G (p.Arg5Gly) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001213836]|not provided [RCV000381645] Chr18:31591915 [GRCh38]
Chr18:29171878 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.*143G>C single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000289018]|Hyperthyroxinemia, dystransthyretinemic [RCV002487439] Chr18:31598818 [GRCh38]
Chr18:29178781 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.-61G>A single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000295231]|Hyperthyroxinemia, dystransthyretinemic [RCV002495032] Chr18:31591842 [GRCh38]
Chr18:29171805 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.3(TTR):c.*304C>T single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000303366] Chr18:31598979 [GRCh38]
Chr18:29178942 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.3(TTR):c.*345G>A single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000337206] Chr18:31599020 [GRCh38]
Chr18:29178983 [GRCh37]
Chr18:18q12.1		 benign|uncertain significance
NM_000371.4(TTR):c.*21C>A single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000381114]|not provided [RCV001711941] Chr18:31598696 [GRCh38]
Chr18:29178659 [GRCh37]
Chr18:18q12.1		 benign|uncertain significance
NM_000371.3(TTR):c.*191C>T single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000396066]|not provided [RCV004709831] Chr18:31598866 [GRCh38]
Chr18:29178829 [GRCh37]
Chr18:18q12.1		 benign|uncertain significance
NM_000371.4(TTR):c.185A>C (p.Glu62Ala) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001374651] Chr18:31593011 [GRCh38]
Chr18:29172974 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.11_13dup (p.His4dup) duplication Amyloidosis, hereditary systemic 1 [RCV000352471]|Cardiovascular phenotype [RCV002429287]|Hyperthyroxinemia, dystransthyretinemic [RCV002487438]|not provided [RCV000598794] Chr18:31591910..31591911 [GRCh38]
Chr18:29171873..29171874 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.432_437del (p.Asn144_Pro145del) deletion Amyloidosis, hereditary systemic 1 [RCV000290123] Chr18:31598659..31598664 [GRCh38]
Chr18:29178622..29178627 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.372C>G (p.Arg124=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000870117]|Cardiovascular phenotype [RCV004025024]|not provided [RCV001698472]|not specified [RCV000605513] Chr18:31598603 [GRCh38]
Chr18:29178566 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_000371.4(TTR):c.303A>C (p.Ala101=) single nucleotide variant not specified [RCV000587768] Chr18:31595222 [GRCh38]
Chr18:29175185 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_000371.4(TTR):c.302C>T (p.Ala101Val) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001221565]|Cardiomyopathy [RCV003486886]|Cardiovascular phenotype [RCV002438524]|not provided [RCV000586381] Chr18:31595221 [GRCh38]
Chr18:29175184 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic|uncertain significance
NM_000371.4(TTR):c.147C>T (p.Ala49=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001433583]|Cardiovascular phenotype [RCV002395505]|not specified [RCV000588441] Chr18:31592973 [GRCh38]
Chr18:29172936 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_000371.4(TTR):c.244G>A (p.Glu82Lys) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000587406]|Cardiovascular phenotype [RCV002456283] Chr18:31595163 [GRCh38]
Chr18:29175126 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000371.4(TTR):c.201-16C>T single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV002530903]|not provided [RCV000589537] Chr18:31595104 [GRCh38]
Chr18:29175067 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_000371.4(TTR):c.-1G>C single nucleotide variant Cardiovascular phenotype [RCV002420560]|not provided [RCV000590438] Chr18:31591902 [GRCh38]
Chr18:29171865 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.336+8T>C single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000528163] Chr18:31595263 [GRCh38]
Chr18:29175226 [GRCh37]
Chr18:18q12.1		 likely benign
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_000371.4(TTR):c.70-20C>T single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003514365]|Hyperthyroxinemia, dystransthyretinemic [RCV002488972]|not specified [RCV000419387] Chr18:31592876 [GRCh38]
Chr18:29172839 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.70-9T>C single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001175248]|TTR-related disorder [RCV004551470]|not provided [RCV001702656]|not specified [RCV000443741] Chr18:31592887 [GRCh38]
Chr18:29172850 [GRCh37]
Chr18:18q12.1		 benign|likely benign|uncertain significance
NM_000371.4(TTR):c.70-19G>A single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV002063476]|Charcot-Marie-Tooth disease [RCV001173540]|Hyperthyroxinemia, dystransthyretinemic [RCV002488957]|not specified [RCV000440749] Chr18:31592877 [GRCh38]
Chr18:29172840 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.78T>C (p.Gly26=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003626621]|Cardiovascular phenotype [RCV002418281]|Hyperthyroxinemia, dystransthyretinemic [RCV002506044]|not specified [RCV000420170] Chr18:31592904 [GRCh38]
Chr18:29172867 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.267C>T (p.Tyr89=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001122125]|Cardiovascular phenotype [RCV002429367]|not provided [RCV001703515] Chr18:31595186 [GRCh38]
Chr18:29175149 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.405C>G (p.Ser135=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000468263]|Cardiomyopathy [RCV001798844]|Cardiovascular phenotype [RCV002323763] Chr18:31598636 [GRCh38]
Chr18:29178599 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.370C>T (p.Arg124Cys) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000461445]|Brugada syndrome [RCV000852478]|Cardiomyopathy [RCV000770561]|Cardiovascular phenotype [RCV002348260]|Charcot-Marie-Tooth disease [RCV001173298]|Conduction disorder of the heart [RCV001256815]|Hyperthyroxinemia, dystransthyretinemic [RCV002506092]|not provided [RCV000788430]|not specified [RCV000516687] Chr18:31598601 [GRCh38]
Chr18:29178564 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.375C>T (p.Tyr125=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001504079]|Cardiovascular phenotype [RCV002349997]|not provided [RCV000472544]|not specified [RCV000606450] Chr18:31598606 [GRCh38]
Chr18:29178569 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.*9TCC[1] microsatellite not provided [RCV001726189]|not specified [RCV000482219] Chr18:31598683..31598685 [GRCh38]
Chr18:29178646..29178648 [GRCh37]
Chr18:18q12.1		 likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 18q11.2-12.2(chr18:20069932-36887326)x1 copy number loss See cases [RCV000510691] Chr18:20069932..36887326 [GRCh37]
Chr18:18q11.2-12.2		 pathogenic
GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3 copy number gain See cases [RCV000511857] Chr18:136227..46171053 [GRCh37]
Chr18:18p11.32-q21.1		 pathogenic
GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3 copy number gain See cases [RCV000511734] Chr18:18521285..64495798 [GRCh37]
Chr18:18q11.1-22.1		 pathogenic
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3 copy number gain See cases [RCV000512030] Chr18:14869204..78014123 [GRCh37]
Chr18:18p11.21-q23		 pathogenic
NM_000371.4(TTR):c.408T>C (p.Tyr136=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003766885]|Cardiovascular phenotype [RCV002323872]|Hyperthyroxinemia, dystransthyretinemic [RCV002496972]|not specified [RCV000507153] Chr18:31598639 [GRCh38]
Chr18:29178602 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_000371.4(TTR):c.304C>T (p.Leu102Phe) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001856983]|not provided [RCV000493382] Chr18:31595223 [GRCh38]
Chr18:29175186 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh37/hg19 18q11.2-21.1(chr18:24835114-46917217)x3 copy number gain See cases [RCV000511124] Chr18:24835114..46917217 [GRCh37]
Chr18:18q11.2-21.1		 likely benign
NM_000371.4(TTR):c.165G>T (p.Lys55Asn) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000699004]|not provided [RCV000714132] Chr18:31592991 [GRCh38]
Chr18:29172954 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_000371.4(TTR):c.206C>G (p.Thr69Ser) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000647353] Chr18:31595125 [GRCh38]
Chr18:29175088 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_000371.4(TTR):c.169G>A (p.Ala57Thr) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000647354] Chr18:31592995 [GRCh38]
Chr18:29172958 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.171TGA[1] (p.Asp59del) microsatellite Amyloidosis, hereditary systemic 1 [RCV000647357] Chr18:31592997..31592999 [GRCh38]
Chr18:29172960..29172962 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.69+7G>A single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003626633]|not specified [RCV000602936] Chr18:31591978 [GRCh38]
Chr18:29171941 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.231G>A (p.Gly77=) single nucleotide variant Cardiomyopathy [RCV001170382]|not specified [RCV000615182] Chr18:31595150 [GRCh38]
Chr18:29175113 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.3(TTR):c.-46C>T single nucleotide variant not specified [RCV000611185] Chr18:31591857 [GRCh38]
Chr18:29171820 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.216T>G (p.Ser72=) single nucleotide variant not specified [RCV000614457] Chr18:31595135 [GRCh38]
Chr18:29175098 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.141T>C (p.Asn47=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000647359]|Cardiovascular phenotype [RCV002388114]|Hyperthyroxinemia, dystransthyretinemic [RCV002499104] Chr18:31592967 [GRCh38]
Chr18:29172930 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.212_217dup (p.Glu71_Ser72dup) duplication Amyloidosis, hereditary systemic 1 [RCV000663430] Chr18:31595128..31595129 [GRCh38]
Chr18:29175091..29175092 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_000371.4(TTR):c.271del (p.Val91fs) deletion not provided [RCV000658804] Chr18:31595190 [GRCh38]
Chr18:29175153 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.116C>A (p.Ala39Asp) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000685149]|Cardiovascular phenotype [RCV002331319] Chr18:31592942 [GRCh38]
Chr18:29172905 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000371.4(TTR):c.239C>T (p.Thr80Ile) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000700173]|Cardiovascular phenotype [RCV002458280]|not provided [RCV000756862] Chr18:31595158 [GRCh38]
Chr18:29175121 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 18q12.1(chr18:26693886-29208276)x3 copy number gain not provided [RCV000684031] Chr18:26693886..29208276 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.242A>G (p.Glu81Gly) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000693859]|Cardiovascular phenotype [RCV002442455] Chr18:31595161 [GRCh38]
Chr18:29175124 [GRCh37]
Chr18:18q12.1		 likely pathogenic|uncertain significance
NM_000371.4(TTR):c.406T>C (p.Tyr136His) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000706531]|Cardiovascular phenotype [RCV002325432]|Hyperthyroxinemia, dystransthyretinemic [RCV002477632] Chr18:31598637 [GRCh38]
Chr18:29178600 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.112G>A (p.Asp38Asn) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000693117]|Cardiovascular phenotype [RCV002325388] Chr18:31592938 [GRCh38]
Chr18:29172901 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_000371.4(TTR):c.200+2T>C single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000688321] Chr18:31593028 [GRCh38]
Chr18:29172991 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.263T>C (p.Ile88Thr) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000693587]|Hyperthyroxinemia, dystransthyretinemic [RCV002485662]|not provided [RCV002227208] Chr18:31595182 [GRCh38]
Chr18:29175145 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.34G>T (p.Ala12Ser) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000703248]|Cardiovascular phenotype [RCV002458294] Chr18:31591936 [GRCh38]
Chr18:29171899 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.201-27C>A single nucleotide variant not specified [RCV001001104] Chr18:31595093 [GRCh38]
Chr18:29175056 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.221A>G (p.Glu74Gly) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003514451]|Cardiovascular phenotype [RCV002416289]|not provided [RCV001288933]|not specified [RCV001002179] Chr18:31595140 [GRCh38]
Chr18:29175103 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_000371.4(TTR):c.151C>T (p.His51Tyr) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003627524] Chr18:31592977 [GRCh38]
Chr18:29172940 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh37/hg19 18q11.1-21.2(chr18:18539806-49926444)x2 copy number gain not provided [RCV000739776] Chr18:18539806..49926444 [GRCh37]
Chr18:18q11.1-21.2		 pathogenic
NM_000371.4(TTR):c.200G>A (p.Gly67Glu) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000990082]|Cardiovascular phenotype [RCV002416270] Chr18:31593026 [GRCh38]
Chr18:29172989 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_000371.4(TTR):c.277A>G (p.Ile93Val) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000990083]|Hereditary amyloidosis [RCV001257097] Chr18:31595196 [GRCh38]
Chr18:29175159 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_000371.4(TTR):c.121C>A (p.Arg41=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001429072]|Cardiovascular phenotype [RCV002352534]|Hyperthyroxinemia, dystransthyretinemic [RCV002495260]|not provided [RCV000866435] Chr18:31592947 [GRCh38]
Chr18:29172910 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.-743A>T single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000920847]|Hyperthyroxinemia, dystransthyretinemic [RCV002495537] Chr18:31591160 [GRCh38]
Chr18:29171123 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_000371.4(TTR):c.9T>C (p.Ser3=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001444457]|Cardiovascular phenotype [RCV003169328]|not provided [RCV000925967] Chr18:31591911 [GRCh38]
Chr18:29171874 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.195C>T (p.Ala65=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000983460] Chr18:31593021 [GRCh38]
Chr18:29172984 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.74C>T (p.Thr25Ile) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001062159] Chr18:31592900 [GRCh38]
Chr18:29172863 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.323A>G (p.His108Arg) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001058837]|Cardiovascular phenotype [RCV002445306] Chr18:31595242 [GRCh38]
Chr18:29175205 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_000371.4(TTR):c.356A>C (p.Asp119Ala) single nucleotide variant Cardiomyopathy [RCV000770558] Chr18:31598587 [GRCh38]
Chr18:29178550 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.186G>T (p.Glu62Asp) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001342557]|Cardiovascular phenotype [RCV002406713]|not specified [RCV000781919] Chr18:31593012 [GRCh38]
Chr18:29172975 [GRCh37]
Chr18:18q12.1		 pathogenic|uncertain significance
NM_000371.4(TTR):c.200+1G>A single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000778529] Chr18:31593027 [GRCh38]
Chr18:29172990 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.385G>T (p.Ala129Ser) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001378795]|Cardiomyopathy [RCV000770562] Chr18:31598616 [GRCh38]
Chr18:29178579 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic|uncertain significance
NM_000371.4(TTR):c.358T>C (p.Ser120Pro) single nucleotide variant Cardiomyopathy [RCV000770559] Chr18:31598589 [GRCh38]
Chr18:29178552 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.70-1G>A single nucleotide variant Cardiovascular phenotype [RCV003311153] Chr18:31592895 [GRCh38]
Chr18:29172858 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.128G>A (p.Ser43Asn) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000819070]|Cardiovascular phenotype [RCV002381854]|not provided [RCV001811504] Chr18:31592954 [GRCh38]
Chr18:29172917 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_000371.4(TTR):c.160A>G (p.Arg54Gly) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000817566] Chr18:31592986 [GRCh38]
Chr18:29172949 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_000371.4(TTR):c.229G>A (p.Gly77Arg) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000817641] Chr18:31595148 [GRCh38]
Chr18:29175111 [GRCh37]
Chr18:18q12.1		 pathogenic|uncertain significance
NM_000371.4(TTR):c.173A>C (p.Asp58Ala) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000797923]|Cardiovascular phenotype [RCV002406755]|not provided [RCV003117589] Chr18:31592999 [GRCh38]
Chr18:29172962 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_000371.4(TTR):c.369C>G (p.Arg123=) single nucleotide variant TTR-related disorder [RCV004740464]|not specified [RCV000825845] Chr18:31598600 [GRCh38]
Chr18:29178563 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.11_13del (p.His4del) deletion Amyloidosis, hereditary systemic 1 [RCV000815435]|Hyperthyroxinemia, dystransthyretinemic [RCV002487792] Chr18:31591911..31591913 [GRCh38]
Chr18:29171874..29171876 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.220G>A (p.Glu74Lys) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV002249489]|Cardiovascular phenotype [RCV002424785]|not provided [RCV000788781] Chr18:31595139 [GRCh38]
Chr18:29175102 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_000371.4(TTR):c.137T>C (p.Ile46Thr) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000791969] Chr18:31592963 [GRCh38]
Chr18:29172926 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.69+1G>A single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000798544] Chr18:31591972 [GRCh38]
Chr18:29171935 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh37/hg19 18q11.2-21.2(chr18:20689919-49455212)x3 copy number gain not provided [RCV001006980] Chr18:20689919..49455212 [GRCh37]
Chr18:18q11.2-21.2		 pathogenic
NM_000371.4(TTR):c.69G>A (p.Thr23=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV002538272]|Cardiovascular phenotype [RCV002372375]|not provided [RCV000828910]|not specified [RCV002469304] Chr18:31591971 [GRCh38]
Chr18:29171934 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_000371.4(TTR):c.69G>C (p.Thr23=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000793794] Chr18:31591971 [GRCh38]
Chr18:29171934 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.127A>C (p.Ser43Arg) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000795071]|Hyperthyroxinemia, dystransthyretinemic [RCV002493450] Chr18:31592953 [GRCh38]
Chr18:29172916 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.69+5G>C single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001195870]|TTR-related disorder [RCV004548049] Chr18:31591976 [GRCh38]
Chr18:29171939 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.167C>A (p.Ala56Asp) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001239365] Chr18:31592993 [GRCh38]
Chr18:29172956 [GRCh37]
Chr18:18q12.1		 pathogenic|uncertain significance
NM_000371.4(TTR):c.227A>G (p.His76Arg) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001237948]|Cardiovascular phenotype [RCV002447188] Chr18:31595146 [GRCh38]
Chr18:29175109 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.13C>T (p.Arg5Cys) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001210254]|Cardiovascular phenotype [RCV002393475]|Hyperthyroxinemia, dystransthyretinemic [RCV002480694] Chr18:31591915 [GRCh38]
Chr18:29171878 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.155T>C (p.Val52Ala) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001215017]|Cardiovascular phenotype [RCV002402641] Chr18:31592981 [GRCh38]
Chr18:29172944 [GRCh37]
Chr18:18q12.1		 likely pathogenic|uncertain significance
NM_000371.4(TTR):c.193_194del (p.Ala65fs) deletion not provided [RCV003480274] Chr18:31593019..31593020 [GRCh38]
Chr18:29172982..29172983 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.209G>A (p.Ser70Asn) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001048624]|Cardiovascular phenotype [RCV002416279]|Hyperthyroxinemia, dystransthyretinemic [RCV002481779]|Tip-toe gait [RCV001354053]|not provided [RCV000996673] Chr18:31595128 [GRCh38]
Chr18:29175091 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.310A>C (p.Ile104Leu) single nucleotide variant Tip-toe gait [RCV001543343]|not provided [RCV000996674] Chr18:31595229 [GRCh38]
Chr18:29175192 [GRCh37]
Chr18:18q12.1		 likely pathogenic|uncertain significance|no classifications from unflagged records
NM_000371.4(TTR):c.443G>A (p.Ter148=) single nucleotide variant not provided [RCV000996675] Chr18:31598674 [GRCh38]
Chr18:29178637 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.373T>C (p.Tyr125His) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001228398] Chr18:31598604 [GRCh38]
Chr18:29178567 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.203A>C (p.Lys68Thr) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001198682] Chr18:31595122 [GRCh38]
Chr18:29175085 [GRCh37]
Chr18:18q12.1		 uncertain significance
NC_000018.9:g.(?_28647981)_(29648347_?)dup duplication not provided [RCV003107559] Chr18:28647981..29648347 [GRCh37]
Chr18:18q12.1		 uncertain significance
NC_000018.9:g.(?_29078215)_(29178638_?)dup duplication Amyloidosis, hereditary systemic 1 [RCV004579597]|Arrhythmogenic right ventricular dysplasia 10 [RCV003107563] Chr18:29078215..29178638 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.-3A>G single nucleotide variant Cardiovascular phenotype [RCV002359205]|not provided [RCV001617725] Chr18:31591900 [GRCh38]
Chr18:29171863 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_000371.4(TTR):c.-15C>T single nucleotide variant Cardiovascular phenotype [RCV002405267]|Hyperthyroxinemia, dystransthyretinemic [RCV002501973]|not provided [RCV001615018] Chr18:31591888 [GRCh38]
Chr18:29171851 [GRCh37]
Chr18:18q12.1		 benign|likely benign|uncertain significance
NM_000371.4(TTR):c.69+10T>C single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000918086]|not provided [RCV001672983] Chr18:31591981 [GRCh38]
Chr18:29171944 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_000371.3(TTR):c.*261C>T single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001127983]|not provided [RCV004704435] Chr18:31598936 [GRCh38]
Chr18:29178899 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.131C>T (p.Pro44Leu) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001220285] Chr18:31592957 [GRCh38]
Chr18:29172920 [GRCh37]
Chr18:18q12.1		 likely pathogenic|uncertain significance
NM_000371.4(TTR):c.223C>A (p.Leu75Met) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001044452] Chr18:31595142 [GRCh38]
Chr18:29175105 [GRCh37]
Chr18:18q12.1		 pathogenic|uncertain significance
NM_000371.4(TTR):c.201-3T>C single nucleotide variant Charcot-Marie-Tooth disease [RCV001173538] Chr18:31595117 [GRCh38]
Chr18:29175080 [GRCh37]
Chr18:18q12.1		 likely benign
NC_000018.9:g.(?_28647971)_(29178648_?)dup duplication Amyloidosis, hereditary systemic 1 [RCV001033848] Chr18:28647971..29178648 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.327G>A (p.Glu109=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001493107] Chr18:31595246 [GRCh38]
Chr18:29175209 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.114T>C (p.Asp38=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001413569] Chr18:31592940 [GRCh38]
Chr18:29172903 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.11A>T (p.His4Leu) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV000990081]|Cardiovascular phenotype [RCV002346195]|Charcot-Marie-Tooth disease [RCV001173302] Chr18:31591913 [GRCh38]
Chr18:29171876 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.383C>T (p.Ala128Val) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV002571414]|Cardiovascular phenotype [RCV003308132]|not provided [RCV002467221] Chr18:31598614 [GRCh38]
Chr18:29178577 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.*118G>A single nucleotide variant not provided [RCV001621034] Chr18:31598793 [GRCh38]
Chr18:29178756 [GRCh37]
Chr18:18q12.1		 benign
NM_000371.4(TTR):c.201-76T>A single nucleotide variant not provided [RCV001715316] Chr18:31595044 [GRCh38]
Chr18:29175007 [GRCh37]
Chr18:18q12.1		 benign
NM_000371.4(TTR):c.293A>T (p.Tyr98Phe) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001718568]|Cardiovascular phenotype [RCV002440842]|not provided [RCV003329411] Chr18:31595212 [GRCh38]
Chr18:29175175 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_000371.4(TTR):c.326A>T (p.Glu109Val) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001049648]|Cardiovascular phenotype [RCV002445262]|not provided [RCV001288935] Chr18:31595245 [GRCh38]
Chr18:29175208 [GRCh37]
Chr18:18q12.1		 likely pathogenic|uncertain significance
NM_000371.4(TTR):c.337-527_349del deletion Amyloidosis, hereditary systemic 1 [RCV001044394] Chr18:31598040..31598579 [GRCh38]
Chr18:29178003..29178542 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.*31G>A single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001127980] Chr18:31598706 [GRCh38]
Chr18:29178669 [GRCh37]
Chr18:18q12.1		 uncertain significance
NC_000018.10:g.(?_31591160)_(31598685_?)dup duplication Amyloidosis, hereditary systemic 1 [RCV001032151] Chr18:29171123..29178648 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.47T>A (p.Phe16Tyr) single nucleotide variant not specified [RCV001002096] Chr18:31591949 [GRCh38]
Chr18:29171912 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.75C>T (p.Thr25=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001484651]|Charcot-Marie-Tooth disease [RCV001173537] Chr18:31592901 [GRCh38]
Chr18:29172864 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.*100A>G single nucleotide variant not provided [RCV001641384] Chr18:31598775 [GRCh38]
Chr18:29178738 [GRCh37]
Chr18:18q12.1		 benign
NM_000371.4(TTR):c.24C>T (p.Leu8=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV002073143]|Cardiovascular phenotype [RCV003163788]|not provided [RCV001669599] Chr18:31591926 [GRCh38]
Chr18:29171889 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_000371.4(TTR):c.252T>G (p.Phe84Leu) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001048418]|Charcot-Marie-Tooth disease [RCV001173295] Chr18:31595171 [GRCh38]
Chr18:29175134 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_000371.4(TTR):c.258A>T (p.Glu86Asp) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001204571] Chr18:31595177 [GRCh38]
Chr18:29175140 [GRCh37]
Chr18:18q12.1		 likely pathogenic|uncertain significance
NM_000371.4(TTR):c.200G>T (p.Gly67Val) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001207386]|Cardiovascular phenotype [RCV002418694] Chr18:31593026 [GRCh38]
Chr18:29172989 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NC_000018.10:g.(?_31498242)_(31598685_?)dup duplication Amyloidosis, hereditary systemic 1 [RCV001372123]|Arrhythmogenic right ventricular dysplasia 10 [RCV001033047] Chr18:29078205..29178648 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.193G>A (p.Ala65Thr) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001054625]|Cardiovascular phenotype [RCV002409453]|not provided [RCV001288932] Chr18:31593019 [GRCh38]
Chr18:29172982 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_000371.4(TTR):c.172G>C (p.Asp58His) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001236265]|Cardiovascular phenotype [RCV002402741] Chr18:31592998 [GRCh38]
Chr18:29172961 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic|uncertain significance
NM_000371.3(TTR):c.-102G>T single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001125783]|not provided [RCV001655682] Chr18:31591801 [GRCh38]
Chr18:29171764 [GRCh37]
Chr18:18q12.1		 benign|uncertain significance
NM_000371.4(TTR):c.382G>A (p.Ala128Thr) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001125871] Chr18:31598613 [GRCh38]
Chr18:29178576 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh37/hg19 18q12.1(chr18:29164927-29757460)x3 copy number gain not provided [RCV001006962] Chr18:29164927..29757460 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh37/hg19 18q11.2-12.2(chr18:22868759-34335753)x1 copy number loss not provided [RCV001006964] Chr18:22868759..34335753 [GRCh37]
Chr18:18q11.2-12.2		 pathogenic
NM_000371.3(TTR):c.*234G>C single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001127982] Chr18:31598909 [GRCh38]
Chr18:29178872 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.35C>A (p.Ala12Asp) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001062607] Chr18:31591937 [GRCh38]
Chr18:29171900 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.161G>C (p.Arg54Thr) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001042832] Chr18:31592987 [GRCh38]
Chr18:29172950 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_000371.4(TTR):c.239C>G (p.Thr80Ser) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001122124] Chr18:31595158 [GRCh38]
Chr18:29175121 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.224T>G (p.Leu75Arg) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001211103] Chr18:31595143 [GRCh38]
Chr18:29175106 [GRCh37]
Chr18:18q12.1		 pathogenic
GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3 copy number gain not provided [RCV001537911] Chr18:23626739..78014976 [GRCh37]
Chr18:18q11.2-23		 pathogenic
GRCh37/hg19 18q12.1(chr18:25329706-29734723)x3 copy number gain not provided [RCV001258867] Chr18:25329706..29734723 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.246G>C (p.Glu82Asp) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001313564]|Cardiovascular phenotype [RCV004679067] Chr18:31595165 [GRCh38]
Chr18:29175128 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh37/hg19 18q11.2-12.2(chr18:23971647-33737300)x1 copy number loss See cases [RCV001263022] Chr18:23971647..33737300 [GRCh37]
Chr18:18q11.2-12.2		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) copy number gain Trisomy 18 [RCV002280660] Chr18:1..78077248 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_000371.4(TTR):c.431A>G (p.Asn144Ser) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001307114]|Cardiomyopathy [RCV001799061]|Cardiovascular phenotype [RCV002327675] Chr18:31598662 [GRCh38]
Chr18:29178625 [GRCh37]
Chr18:18q12.1		 uncertain significance
Single allele deletion Intellectual disability [RCV001787257] Chr18:1262336..53254747 [GRCh37]
Chr18:18p11.32-q21.2		 pathogenic
NM_000371.4(TTR):c.259G>C (p.Gly87Arg) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001303075]|not provided [RCV004793397] Chr18:31595178 [GRCh38]
Chr18:29175141 [GRCh37]
Chr18:18q12.1		 likely pathogenic|uncertain significance
NC_000018.9:g.(?_29078205)_(29178648_?)dup duplication Arrhythmogenic right ventricular cardiomyopathy, type 10 [RCV001322787] Chr18:29078205..29178648 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.361G>A (p.Gly121Ser) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001344726]|Cardiovascular phenotype [RCV002456492]|Hyperthyroxinemia, dystransthyretinemic [RCV002499688] Chr18:31598592 [GRCh38]
Chr18:29178555 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.69+30C>T single nucleotide variant not provided [RCV001812459] Chr18:31592001 [GRCh38]
Chr18:29171964 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.211G>A (p.Glu71Lys) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001301691]|Cardiovascular phenotype [RCV002418911]|not provided [RCV001587329] Chr18:31595130 [GRCh38]
Chr18:29175093 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.200+4A>G single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001324256] Chr18:31593030 [GRCh38]
Chr18:29172993 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.201-32C>T single nucleotide variant not provided [RCV001813091] Chr18:31595088 [GRCh38]
Chr18:29175051 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.336+5G>A single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001351081]|Cardiovascular phenotype [RCV002322303] Chr18:31595260 [GRCh38]
Chr18:29175223 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.170C>A (p.Ala57Asp) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001299780] Chr18:31592996 [GRCh38]
Chr18:29172959 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.441A>G (p.Glu147=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001367485]|not provided [RCV001534093] Chr18:31598672 [GRCh38]
Chr18:29178635 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_000371.4(TTR):c.391C>T (p.Leu131=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001441041] Chr18:31598622 [GRCh38]
Chr18:29178585 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.200+8G>T single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001403080] Chr18:31593034 [GRCh38]
Chr18:29172997 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.315C>A (p.Ser105=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001456478] Chr18:31595234 [GRCh38]
Chr18:29175197 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.325G>A (p.Glu109Lys) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001386305]|Cardiovascular phenotype [RCV002322365]|not provided [RCV001530146] Chr18:31595244 [GRCh38]
Chr18:29175207 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_000371.4(TTR):c.423C>T (p.Val141=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001460188] Chr18:31598654 [GRCh38]
Chr18:29178617 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.40C>T (p.Leu14=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001449123]|Cardiovascular phenotype [RCV004681183]|Hyperthyroxinemia, dystransthyretinemic [RCV002476766]|not provided [RCV001539583] Chr18:31591942 [GRCh38]
Chr18:29171905 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_000371.4(TTR):c.214T>C (p.Ser72Pro) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001534617]|Cardiovascular phenotype [RCV002424971] Chr18:31595133 [GRCh38]
Chr18:29175096 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_000371.4(TTR):c.94C>G (p.Leu32Val) single nucleotide variant Amyloidosis [RCV003447595]|Amyloidosis, hereditary systemic 1 [RCV001389002]|Cardiovascular phenotype [RCV002377579] Chr18:31592920 [GRCh38]
Chr18:29172883 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_000371.4(TTR):c.182G>T (p.Trp61Leu) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001389003] Chr18:31593008 [GRCh38]
Chr18:29172971 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_000371.4(TTR):c.251T>C (p.Phe84Ser) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001378794] Chr18:31595170 [GRCh38]
Chr18:29175133 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_000371.4(TTR):c.365C>G (p.Pro122Arg) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003626673]|Cardiovascular phenotype [RCV004681217]|not provided [RCV001508824] Chr18:31598596 [GRCh38]
Chr18:29178559 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_000371.4(TTR):c.70-16T>C single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV002073275]|Cardiovascular phenotype [RCV002360998]|not provided [RCV001716255]|not specified [RCV001698892] Chr18:31592880 [GRCh38]
Chr18:29172843 [GRCh37]
Chr18:18q12.1		 benign|likely benign|uncertain significance
NM_000371.4(TTR):c.66T>C (p.Pro22=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001458339] Chr18:31591968 [GRCh38]
Chr18:29171931 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.300G>A (p.Lys100=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001478349]|Cardiovascular phenotype [RCV004037180] Chr18:31595219 [GRCh38]
Chr18:29175182 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.217G>A (p.Gly73Arg) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001378793] Chr18:31595136 [GRCh38]
Chr18:29175099 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_000371.4(TTR):c.186G>C (p.Glu62Asp) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001379926] Chr18:31593012 [GRCh38]
Chr18:29172975 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_000371.4(TTR):c.156G>A (p.Val52=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001400464]|Cardiovascular phenotype [RCV002404932] Chr18:31592982 [GRCh38]
Chr18:29172945 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.179C>A (p.Thr60Asn) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001377431]|Cardiovascular phenotype [RCV002404893] Chr18:31593005 [GRCh38]
Chr18:29172968 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_000371.4(TTR):c.381T>G (p.Ile127Met) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001386306]|Cardiovascular phenotype [RCV002357290] Chr18:31598612 [GRCh38]
Chr18:29178575 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_000371.4(TTR):c.83C>T (p.Ser28Phe) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001868586]|not provided [RCV001769251]|not specified [RCV004526862] Chr18:31592909 [GRCh38]
Chr18:29172872 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.367C>T (p.Arg123Cys) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001869437]|Cardiomyopathy [RCV001799461] Chr18:31598598 [GRCh38]
Chr18:29178561 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.425T>C (p.Val142Ala) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001808154] Chr18:31598656 [GRCh38]
Chr18:29178619 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_000371.4(TTR):c.69+2T>C single nucleotide variant not provided [RCV001815838] Chr18:31591973 [GRCh38]
Chr18:29171936 [GRCh37]
Chr18:18q12.1		 uncertain significance
Single allele deletion Deletion of long arm of chromosome 18 [RCV004801487] Chr18:23614482..49306881 [GRCh38]
Chr18:18q11.2-21.1		 pathogenic
NM_000371.4(TTR):c.50T>C (p.Val17Ala) single nucleotide variant Cardiovascular phenotype [RCV002343865]|not provided [RCV001811868] Chr18:31591952 [GRCh38]
Chr18:29171915 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.97_99dup (p.Met33dup) duplication Amyloidosis, hereditary systemic 1 [RCV001808840] Chr18:31592920..31592921 [GRCh38]
Chr18:29172883..29172884 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) copy number gain not specified [RCV002052616] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_000371.4(TTR):c.221A>C (p.Glu74Ala) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV002024760] Chr18:31595140 [GRCh38]
Chr18:29175103 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_000371.4(TTR):c.89G>A (p.Cys30Tyr) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001986200] Chr18:31592915 [GRCh38]
Chr18:29172878 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_000371.4(TTR):c.65C>T (p.Pro22Leu) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001988564]|Cardiovascular phenotype [RCV002361355] Chr18:31591967 [GRCh38]
Chr18:29171930 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh37/hg19 18q12.1(chr18:29120408-29497601) copy number gain not specified [RCV002052629] Chr18:29120408..29497601 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.124G>A (p.Gly42Ser) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001908150] Chr18:31592950 [GRCh38]
Chr18:29172913 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.37G>A (p.Gly13Arg) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001928884]|Hyperthyroxinemia, dystransthyretinemic [RCV002479444] Chr18:31591939 [GRCh38]
Chr18:29171902 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.296G>C (p.Trp99Ser) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV002020586] Chr18:31595215 [GRCh38]
Chr18:29175178 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.85A>G (p.Lys29Glu) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV002021812] Chr18:31592911 [GRCh38]
Chr18:29172874 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.340G>T (p.Val114Leu) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001894315]|Cardiovascular phenotype [RCV004039667] Chr18:31598571 [GRCh38]
Chr18:29178534 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.12T>A (p.His4Gln) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001975522] Chr18:31591914 [GRCh38]
Chr18:29171877 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.314C>T (p.Ser105Phe) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001961957]|Cardiovascular phenotype [RCV004040334]|Hyperthyroxinemia, dystransthyretinemic [RCV002490028] Chr18:31595233 [GRCh38]
Chr18:29175196 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.311T>C (p.Ile104Thr) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001999713]|Cardiovascular phenotype [RCV002324398] Chr18:31595230 [GRCh38]
Chr18:29175193 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_000371.4(TTR):c.206C>T (p.Thr69Ile) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001942058]|TTR-related disorder [RCV004552134] Chr18:31595125 [GRCh38]
Chr18:29175088 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_000371.4(TTR):c.91C>T (p.Pro31Ser) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV002020174] Chr18:31592917 [GRCh38]
Chr18:29172880 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.201-1G>A single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001981327] Chr18:31595119 [GRCh38]
Chr18:29175082 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.328C>G (p.His110Asp) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV002049135]|Cardiovascular phenotype [RCV002324505] Chr18:31595247 [GRCh38]
Chr18:29175210 [GRCh37]
Chr18:18q12.1		 likely pathogenic|uncertain significance
NM_000371.4(TTR):c.114T>A (p.Asp38Glu) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001904544]|Cardiovascular phenotype [RCV003299056] Chr18:31592940 [GRCh38]
Chr18:29172903 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_000371.4(TTR):c.151C>A (p.His51Asn) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001954682]|Hyperthyroxinemia, dystransthyretinemic [RCV002491908] Chr18:31592977 [GRCh38]
Chr18:29172940 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.121C>T (p.Arg41Ter) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001904139] Chr18:31592947 [GRCh38]
Chr18:29172910 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.173A>T (p.Asp58Val) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV001975098] Chr18:31592999 [GRCh38]
Chr18:29172962 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_000371.4(TTR):c.411C>T (p.Ser137=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV002148378]|Cardiovascular phenotype [RCV002325681] Chr18:31598642 [GRCh38]
Chr18:29178605 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.223C>T (p.Leu75=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV002092272] Chr18:31595142 [GRCh38]
Chr18:29175105 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.200+15A>G single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV002090511] Chr18:31593041 [GRCh38]
Chr18:29173004 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.69+13G>C single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV002111695] Chr18:31591984 [GRCh38]
Chr18:29171947 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.69+12T>C single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV002105189] Chr18:31591983 [GRCh38]
Chr18:29171946 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.200+14G>T single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV002173883] Chr18:31593040 [GRCh38]
Chr18:29173003 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.70-19G>T single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV002096477] Chr18:31592877 [GRCh38]
Chr18:29172840 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.21C>T (p.Leu7=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV002213916] Chr18:31591923 [GRCh38]
Chr18:29171886 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.396C>T (p.Ser132=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV002219922] Chr18:31598627 [GRCh38]
Chr18:29178590 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.200+17C>A single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV002083209] Chr18:31593043 [GRCh38]
Chr18:29173006 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.201-10C>T single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV002141603] Chr18:31595110 [GRCh38]
Chr18:29175073 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.200+20T>C single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV002081853]|not provided [RCV003738146] Chr18:31593046 [GRCh38]
Chr18:29173009 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.336+18C>T single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV002219722]|Hyperthyroxinemia, dystransthyretinemic [RCV002498262]|not provided [RCV003738136]|not specified [RCV004782875] Chr18:31595273 [GRCh38]
Chr18:29175236 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.70-5C>T single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV002158119] Chr18:31592891 [GRCh38]
Chr18:29172854 [GRCh37]
Chr18:18q12.1		 likely benign
NC_000018.9:g.(?_29098182)_(29178638_?)dup duplication Amyloidosis, hereditary systemic 1 [RCV003111113]|Arrhythmogenic right ventricular dysplasia 10 [RCV003111112] Chr18:29098182..29178638 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.*20A>G single nucleotide variant not specified [RCV004783467] Chr18:31598695 [GRCh38]
Chr18:29178658 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.220_221delinsCT (p.Glu74Leu) indel Amyloidosis, hereditary systemic 1 [RCV002294539]|Cardiovascular phenotype [RCV002427758] Chr18:31595139..31595140 [GRCh38]
Chr18:29175102..29175103 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_000371.4(TTR):c.367C>G (p.Arg123Gly) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003094296]|Cardiovascular phenotype [RCV002452705] Chr18:31598598 [GRCh38]
Chr18:29178561 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.387C>A (p.Ala129=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003514558]|Cardiovascular phenotype [RCV002366290] Chr18:31598618 [GRCh38]
Chr18:29178581 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.263T>G (p.Ile88Arg) single nucleotide variant Cardiovascular phenotype [RCV002452977] Chr18:31595182 [GRCh38]
Chr18:29175145 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.201-5T>C single nucleotide variant Cardiovascular phenotype [RCV002417402] Chr18:31595115 [GRCh38]
Chr18:29175078 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.212A>C (p.Glu71Ala) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003098640]|Cardiovascular phenotype [RCV002417739] Chr18:31595131 [GRCh38]
Chr18:29175094 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.212A>G (p.Glu71Gly) single nucleotide variant Cardiovascular phenotype [RCV002417746] Chr18:31595131 [GRCh38]
Chr18:29175094 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.232C>G (p.Leu78Val) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV002444407] Chr18:31595151 [GRCh38]
Chr18:29175114 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.88T>G (p.Cys30Gly) single nucleotide variant Cardiovascular phenotype [RCV002376066]|not specified [RCV003988003] Chr18:31592914 [GRCh38]
Chr18:29172877 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.308G>A (p.Gly103Asp) single nucleotide variant Cardiovascular phenotype [RCV002325784] Chr18:31595227 [GRCh38]
Chr18:29175190 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.110T>C (p.Leu37Pro) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV002305193] Chr18:31592936 [GRCh38]
Chr18:29172899 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.179C>T (p.Thr60Ile) single nucleotide variant Cardiovascular phenotype [RCV002407850] Chr18:31593005 [GRCh38]
Chr18:29172968 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.290C>T (p.Ser97Phe) single nucleotide variant Cardiovascular phenotype [RCV002439815] Chr18:31595209 [GRCh38]
Chr18:29175172 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_000371.4(TTR):c.438G>A (p.Lys146=) single nucleotide variant Cardiovascular phenotype [RCV002333634] Chr18:31598669 [GRCh38]
Chr18:29178632 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.316C>G (p.Pro106Ala) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV002302901] Chr18:31595235 [GRCh38]
Chr18:29175198 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.162A>C (p.Arg54Ser) single nucleotide variant Cardiovascular phenotype [RCV002401230] Chr18:31592988 [GRCh38]
Chr18:29172951 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.420T>C (p.Ala140=) single nucleotide variant Cardiovascular phenotype [RCV002327957] Chr18:31598651 [GRCh38]
Chr18:29178614 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.133G>T (p.Ala45Ser) single nucleotide variant Cardiovascular phenotype [RCV002387687] Chr18:31592959 [GRCh38]
Chr18:29172922 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_000371.4(TTR):c.242A>C (p.Glu81Ala) single nucleotide variant Cardiovascular phenotype [RCV002459863] Chr18:31595161 [GRCh38]
Chr18:29175124 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_000371.4(TTR):c.71G>A (p.Gly24Asp) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003626745]|Cardiovascular phenotype [RCV002370850] Chr18:31592897 [GRCh38]
Chr18:29172860 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.361G>C (p.Gly121Arg) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003626710]|Cardiovascular phenotype [RCV002460306] Chr18:31598592 [GRCh38]
Chr18:29178555 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.251T>A (p.Phe84Tyr) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV002839096] Chr18:31595170 [GRCh38]
Chr18:29175133 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_000371.4(TTR):c.201-7C>T single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV002616471] Chr18:31595113 [GRCh38]
Chr18:29175076 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.163A>G (p.Lys55Glu) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV002904760]|Cardiovascular phenotype [RCV003358018] Chr18:31592989 [GRCh38]
Chr18:29172952 [GRCh37]
Chr18:18q12.1		 likely pathogenic|uncertain significance
NM_000371.4(TTR):c.201-10C>A single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV002726732] Chr18:31595110 [GRCh38]
Chr18:29175073 [GRCh37]
Chr18:18q12.1		 likely benign
GRCh37/hg19 18q12.1(chr18:29152719-29422344)x3 copy number gain not provided [RCV002475869] Chr18:29152719..29422344 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.174T>C (p.Asp58=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV002843089] Chr18:31593000 [GRCh38]
Chr18:29172963 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.337-16C>G single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003074016] Chr18:31598552 [GRCh38]
Chr18:29178515 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.184G>A (p.Glu62Lys) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV002574707]|not provided [RCV002475296] Chr18:31593010 [GRCh38]
Chr18:29172973 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.65del (p.Pro22fs) deletion Amyloidosis, hereditary systemic 1 [RCV003033217] Chr18:31591965 [GRCh38]
Chr18:29171928 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.350C>A (p.Ala117Asp) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV002923158] Chr18:31598581 [GRCh38]
Chr18:29178544 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_000371.4(TTR):c.70-9T>A single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV002889816] Chr18:31592887 [GRCh38]
Chr18:29172850 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.434C>A (p.Pro145His) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003021787]|not provided [RCV003222454]|not specified [RCV004782988] Chr18:31598665 [GRCh38]
Chr18:29178628 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.108T>A (p.Val36=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV002820326] Chr18:31592934 [GRCh38]
Chr18:29172897 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.235A>G (p.Thr79Ala) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003100653] Chr18:31595154 [GRCh38]
Chr18:29175117 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_000371.4(TTR):c.208A>G (p.Ser70Gly) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003100652] Chr18:31595127 [GRCh38]
Chr18:29175090 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_000371.4(TTR):c.35C>T (p.Ala12Val) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003021005] Chr18:31591937 [GRCh38]
Chr18:29171900 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.268A>C (p.Lys90Gln) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003084913] Chr18:31595187 [GRCh38]
Chr18:29175150 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_000371.4(TTR):c.69+6T>C single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV002574452]|not specified [RCV003331435] Chr18:31591977 [GRCh38]
Chr18:29171940 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.70-4C>T single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003082146]|Cardiovascular phenotype [RCV003161787] Chr18:31592892 [GRCh38]
Chr18:29172855 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.119T>C (p.Val40Ala) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003084912] Chr18:31592945 [GRCh38]
Chr18:29172908 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_000371.4(TTR):c.335A>G (p.Glu112Gly) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV002834320] Chr18:31595254 [GRCh38]
Chr18:29175217 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.390G>C (p.Leu130=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV002676570] Chr18:31598621 [GRCh38]
Chr18:29178584 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.147C>A (p.Ala49=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003048969] Chr18:31592973 [GRCh38]
Chr18:29172936 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.408T>G (p.Tyr136Ter) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV002832920] Chr18:31598639 [GRCh38]
Chr18:29178602 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.165G>C (p.Lys55Asn) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003064510] Chr18:31592991 [GRCh38]
Chr18:29172954 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_000371.4(TTR):c.377C>A (p.Thr126Asn) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003064512] Chr18:31598608 [GRCh38]
Chr18:29178571 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_000371.4(TTR):c.148G>T (p.Val50Leu) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003050501] Chr18:31592974 [GRCh38]
Chr18:29172937 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_000371.4(TTR):c.45A>G (p.Val15=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003032219] Chr18:31591947 [GRCh38]
Chr18:29171910 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.339G>A (p.Val113=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV002606414] Chr18:31598570 [GRCh38]
Chr18:29178533 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.54T>C (p.Ser18=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV002582267] Chr18:31591956 [GRCh38]
Chr18:29171919 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.231del (p.Leu78fs) deletion Cardiomyopathy [RCV003150700] Chr18:31595148 [GRCh38]
Chr18:29175111 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.337G>A (p.Val113Met) single nucleotide variant Cardiovascular phenotype [RCV004270604] Chr18:31598568 [GRCh38]
Chr18:29178531 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.112G>T (p.Asp38Tyr) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003335804] Chr18:31592938 [GRCh38]
Chr18:29172901 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_000371.4(TTR):c.117delinsAGTCCTCGGTCAAA (p.Arg41fs) indel Cardiovascular phenotype [RCV004353803] Chr18:31592943 [GRCh38]
Chr18:29172906 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.*8C>A single nucleotide variant Cardiomyopathy [RCV003487206] Chr18:31598683 [GRCh38]
Chr18:29178646 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh37/hg19 18q12.1-12.3(chr18:26595964-38643072)x1 copy number loss not provided [RCV003483335] Chr18:26595964..38643072 [GRCh37]
Chr18:18q12.1-12.3		 pathogenic
NM_000371.4(TTR):c.270dup (p.Val91fs) duplication Amyloidosis, hereditary systemic 1 [RCV003515383] Chr18:31595186..31595187 [GRCh38]
Chr18:29175149..29175150 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.347C>G (p.Thr116Arg) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003626473] Chr18:31598578 [GRCh38]
Chr18:29178541 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.151C>G (p.His51Asp) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003515508] Chr18:31592977 [GRCh38]
Chr18:29172940 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.326A>G (p.Glu109Gly) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003515823] Chr18:31595245 [GRCh38]
Chr18:29175208 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_000371.4(TTR):c.160A>C (p.Arg54=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003627840] Chr18:31592986 [GRCh38]
Chr18:29172949 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.390G>A (p.Leu130=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003824668] Chr18:31598621 [GRCh38]
Chr18:29178584 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.98T>A (p.Met33Lys) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003515502] Chr18:31592924 [GRCh38]
Chr18:29172887 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.381T>C (p.Ile127=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003626337] Chr18:31598612 [GRCh38]
Chr18:29178575 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.337-12C>T single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003627240] Chr18:31598556 [GRCh38]
Chr18:29178519 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.116_117insAGTCCTCGGTCAA (p.Arg41fs) insertion Amyloidosis, hereditary systemic 1 [RCV003628171] Chr18:31592942..31592943 [GRCh38]
Chr18:29172905..29172906 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.117T>A (p.Ala39=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003628172] Chr18:31592943 [GRCh38]
Chr18:29172906 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.6T>G (p.Ala2=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003627487] Chr18:31591908 [GRCh38]
Chr18:29171871 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.365C>T (p.Pro122Leu) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003627570] Chr18:31598596 [GRCh38]
Chr18:29178559 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.201-4A>G single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003628338] Chr18:31595116 [GRCh38]
Chr18:29175079 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.180C>T (p.Thr60=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003628506] Chr18:31593006 [GRCh38]
Chr18:29172969 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.57G>A (p.Glu19=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003515830] Chr18:31591959 [GRCh38]
Chr18:29171922 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.198T>G (p.Ser66=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003515849] Chr18:31593024 [GRCh38]
Chr18:29172987 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.305T>C (p.Leu102Pro) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003626556] Chr18:31595224 [GRCh38]
Chr18:29175187 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.201-9A>C single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003514890] Chr18:31595111 [GRCh38]
Chr18:29175074 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.249A>G (p.Glu83=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003515881] Chr18:31595168 [GRCh38]
Chr18:29175131 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.201-8C>A single nucleotide variant Cardiomyopathy [RCV003487207] Chr18:31595112 [GRCh38]
Chr18:29175075 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.311T>A (p.Ile104Asn) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003516383] Chr18:31595230 [GRCh38]
Chr18:29175193 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_000371.4(TTR):c.427A>G (p.Thr143Ala) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003627807]|not provided [RCV003735144] Chr18:31598658 [GRCh38]
Chr18:29178621 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.120C>T (p.Val40=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003626498]|not provided [RCV003735490] Chr18:31592946 [GRCh38]
Chr18:29172909 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.337-3T>G single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003628161] Chr18:31598565 [GRCh38]
Chr18:29178528 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.433C>T (p.Pro145Ser) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003626491]|not provided [RCV004719384] Chr18:31598664 [GRCh38]
Chr18:29178627 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.200+7del deletion Amyloidosis, hereditary systemic 1 [RCV003626522] Chr18:31593032 [GRCh38]
Chr18:29172995 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.200+12A>G single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003627112] Chr18:31593038 [GRCh38]
Chr18:29173001 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.333A>G (p.Ala111=) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003627004] Chr18:31595252 [GRCh38]
Chr18:29175215 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.336+10C>G single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003627399] Chr18:31595265 [GRCh38]
Chr18:29175228 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.69+4_69+7del deletion Amyloidosis, hereditary systemic 1 [RCV003627174] Chr18:31591972..31591975 [GRCh38]
Chr18:29171935..29171938 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.268A>G (p.Lys90Glu) single nucleotide variant Amyloidosis, hereditary systemic 1 [RCV003627531] Chr18:31595187 [GRCh38]
Chr18:29175150 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_000371.4(TTR):c.85A>T (p.Lys29Ter) single nucleotide variant not provided [RCV003740621] Chr18:31592911 [GRCh38]
Chr18:29172874 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.70-20del deletion Amyloidosis, hereditary systemic 1 [RCV003838594] Chr18:31592876 [GRCh38]
Chr18:29172839 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.205A>C (p.Thr69Pro) single nucleotide variant not provided [RCV003736518] Chr18:31595124 [GRCh38]
Chr18:29175087 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_000371.4(TTR):c.336G>A (p.Glu112=) single nucleotide variant Cardiovascular phenotype [RCV004525412] Chr18:31595255 [GRCh38]
Chr18:29175218 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_000371.4(TTR):c.400T>A (p.Tyr134Asn) single nucleotide variant EBV-positive nodal T- and NK-cell lymphoma [RCV004558030] Chr18:31598631 [GRCh38]
Chr18:29178594 [GRCh37]
Chr18:18q12.1		 likely benign
NM_000371.4(TTR):c.441A>T (p.Glu147Asp) single nucleotide variant Cardiovascular phenotype [RCV004525413] Chr18:31598672 [GRCh38]
Chr18:29178635 [GRCh37]
Chr18:18q12.1		 uncertain significance
NC_000018.9:g.(?_29121136)_(29178638_?)dup duplication Arrhythmogenic right ventricular dysplasia 10 [RCV004579811] Chr18:29121136..29178638 [GRCh37]
Chr18:18q12.1		 uncertain significance
NC_000018.9:g.(?_29078215)_(29178638_?)del deletion Amyloidosis, hereditary systemic 1 [RCV004579817] Chr18:29078215..29178638 [GRCh37]
Chr18:18q12.1		 uncertain significance
NC_000018.9:g.(?_29178511)_(29178638_?)dup duplication Amyloidosis, hereditary systemic 1 [RCV004579818] Chr18:29178511..29178638 [GRCh37]
Chr18:18q12.1		 uncertain significance
NC_000018.9:g.(?_28647981)_(29178638_?)del deletion Arrhythmogenic right ventricular dysplasia 11 [RCV004579813] Chr18:28647981..29178638 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_000371.4(TTR):c.260G>A (p.Gly87Glu) single nucleotide variant not provided [RCV004702059] Chr18:31595179 [GRCh38]
Chr18:29175142 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_000371.4(TTR):c.236C>T (p.Thr79Ile) single nucleotide variant Amyloidosis [RCV004775629] Chr18:31595155 [GRCh38]
Chr18:29175118 [GRCh37]
Chr18:18q12.1		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:469
Count of miRNA genes:391
Interacting mature miRNAs:424
Transcripts:ENST00000237014, ENST00000432547, ENST00000541025
Prediction methods:Miranda, Rnahybrid
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
597270693GWAS1366767_Hmetabolite measurement QTL GWAS1366767 (human)5e-14metabolite measurement183159865531598656Human

Markers in Region
G29143  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371829,176,461 - 29,176,610UniSTSGRCh37
Build 361827,430,459 - 27,430,608RGDNCBI36
Celera1825,983,577 - 25,983,726RGD
Cytogenetic Map18q12.1UniSTS
HuRef1826,033,340 - 26,033,489UniSTS
RH75505  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371829,173,360 - 29,173,560UniSTSGRCh37
Build 361827,427,358 - 27,427,558RGDNCBI36
Celera1825,980,475 - 25,980,676RGD
Cytogenetic Map18q12.1UniSTS
HuRef1826,030,239 - 26,030,439UniSTS
RH76196  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371829,178,099 - 29,178,303UniSTSGRCh37
Build 361827,432,097 - 27,432,301RGDNCBI36
Celera1825,985,215 - 25,985,419RGD
Cytogenetic Map18q12.1UniSTS
HuRef1826,034,978 - 26,035,182UniSTS
GDB:176279  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371829,171,749 - 29,172,114UniSTSGRCh37
Build 361827,425,747 - 27,426,112RGDNCBI36
Celera1825,978,864 - 25,979,229RGD
Cytogenetic Map18q12.1UniSTS
HuRef1826,028,628 - 26,028,993UniSTS
GDB:176280  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371829,172,724 - 29,173,186UniSTSGRCh37
Build 361827,426,722 - 27,427,184RGDNCBI36
Celera1825,979,839 - 25,980,301RGD
Cytogenetic Map18q12.1UniSTS
HuRef1826,029,603 - 26,030,065UniSTS
GDB:176281  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371829,174,874 - 29,175,238UniSTSGRCh37
Build 361827,428,872 - 27,429,236RGDNCBI36
Celera1825,981,990 - 25,982,354RGD
Cytogenetic Map18q12.1UniSTS
HuRef1826,031,753 - 26,032,117UniSTS
GDB:177915  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371829,178,528 - 29,178,785UniSTSGRCh37
Build 361827,432,526 - 27,432,783RGDNCBI36
Celera1825,985,644 - 25,985,901RGD
Cytogenetic Map18q12.1UniSTS
HuRef1826,035,407 - 26,035,664UniSTS
GDB:181629  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371829,172,644 - 29,173,058UniSTSGRCh37
Build 361827,426,642 - 27,427,056RGDNCBI36
Celera1825,979,759 - 25,980,173RGD
Cytogenetic Map18q12.1UniSTS
HuRef1826,029,523 - 26,029,937UniSTS
GDB:186202  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371829,178,458 - 29,178,713UniSTSGRCh37
Build 361827,432,456 - 27,432,711RGDNCBI36
Celera1825,985,574 - 25,985,829RGD
Cytogenetic Map18q12.1UniSTS
HuRef1826,035,337 - 26,035,592UniSTS
GDB:186206  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371829,178,481 - 29,178,683UniSTSGRCh37
Build 361827,432,479 - 27,432,681RGDNCBI36
Celera1825,985,597 - 25,985,799RGD
Cytogenetic Map18q12.1UniSTS
HuRef1826,035,360 - 26,035,562UniSTS
GDB:186319  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371829,178,458 - 29,178,640UniSTSGRCh37
Build 361827,432,456 - 27,432,638RGDNCBI36
Celera1825,985,574 - 25,985,756RGD
Cytogenetic Map18q12.1UniSTS
HuRef1826,035,337 - 26,035,519UniSTS
GDB:186556  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371829,172,826 - 29,173,021UniSTSGRCh37
Build 361827,426,824 - 27,427,019RGDNCBI36
Celera1825,979,941 - 25,980,136RGD
Cytogenetic Map18q12.1UniSTS
HuRef1826,029,705 - 26,029,900UniSTS
GDB:192401  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371829,173,178 - 29,174,409UniSTSGRCh37
Build 361827,427,176 - 27,428,407RGDNCBI36
Celera1825,980,293 - 25,981,525RGD
Cytogenetic Map18q12.1UniSTS
HuRef1826,030,057 - 26,031,288UniSTS
GDB:192403  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371829,176,427 - 29,177,343UniSTSGRCh37
Build 361827,430,425 - 27,431,341RGDNCBI36
Celera1825,983,543 - 25,984,459RGD
Cytogenetic Map18q12.1UniSTS
HuRef1826,033,306 - 26,034,222UniSTS
GDB:196602  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371829,178,531 - 29,178,755UniSTSGRCh37
Build 361827,432,529 - 27,432,753RGDNCBI36
Celera1825,985,647 - 25,985,871RGD
Cytogenetic Map18q12.1UniSTS
HuRef1826,035,410 - 26,035,634UniSTS
GDB:217063  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371829,173,390 - 29,174,042UniSTSGRCh37
Build 361827,427,388 - 27,428,040RGDNCBI36
Celera1825,980,505 - 25,981,158RGD
Cytogenetic Map18q12.1UniSTS
HuRef1826,030,269 - 26,030,921UniSTS
GDB:568908  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371829,175,042 - 29,175,106UniSTSGRCh37
Build 361827,429,040 - 27,429,104RGDNCBI36
Celera1825,982,158 - 25,982,222RGD
Cytogenetic Map18q12.1UniSTS
HuRef1826,031,921 - 26,031,985UniSTS
GDB:568915  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371829,175,042 - 29,175,228UniSTSGRCh37
Build 361827,429,040 - 27,429,226RGDNCBI36
Celera1825,982,158 - 25,982,344RGD
Cytogenetic Map18q12.1UniSTS
HuRef1826,031,921 - 26,032,107UniSTS
GDB:568923  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371829,175,042 - 29,175,154UniSTSGRCh37
Build 361827,429,040 - 27,429,152RGDNCBI36
Celera1825,982,158 - 25,982,270RGD
Cytogenetic Map18q12.1UniSTS
HuRef1826,031,921 - 26,032,033UniSTS
D18S1032  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371829,178,658 - 29,178,757UniSTSGRCh37
Build 361827,432,656 - 27,432,755RGDNCBI36
Celera1825,985,774 - 25,985,873RGD
Cytogenetic Map18q12.1UniSTS
HuRef1826,035,537 - 26,035,636UniSTS
GeneMap99-GB4 RH Map18248.09UniSTS
GeneMap99-GB4 RH Map18249.22UniSTS
Whitehead-RH Map18256.5UniSTS
Whitehead-RH Map18259.9UniSTS
Whitehead-YAC Contig Map18 UniSTS
RH11645  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371829,178,629 - 29,178,760UniSTSGRCh37
Build 361827,432,627 - 27,432,758RGDNCBI36
Celera1825,985,745 - 25,985,876RGD
Cytogenetic Map18q12.1UniSTS
GeneMap99-GB4 RH Map18251.14UniSTS


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
1056 2301 2294 1901 4535 1586 1921 4 608 1113 452 1959 5591 5076 1 3450 700 1463 1212 162 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC079096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF162690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF485252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF485253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF485254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA948224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D00096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB498675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ839490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU794670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU727633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM757691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  K02091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M10605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M11518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M11714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M11844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M63285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF616506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM904529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM904530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM904531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM904532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM904533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM904534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM904535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM904536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM904537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM904538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S63185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S72385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S81436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U19780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X59498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000237014   ⟹   ENSP00000237014
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1831,591,877 - 31,598,821 (+)Ensembl
Ensembl Acc Id: ENST00000432547
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1831,591,877 - 31,593,545 (+)Ensembl
Ensembl Acc Id: ENST00000541025
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1831,591,877 - 31,595,849 (+)Ensembl
Ensembl Acc Id: ENST00000610404   ⟹   ENSP00000477599
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1831,557,009 - 31,598,817 (+)Ensembl
Ensembl Acc Id: ENST00000613781   ⟹   ENSP00000479174
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1831,576,060 - 31,591,971 (+)Ensembl
Ensembl Acc Id: ENST00000649620   ⟹   ENSP00000497927
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1831,557,010 - 31,598,833 (+)Ensembl
Ensembl Acc Id: ENST00000676075   ⟹   ENSP00000502027
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1831,576,064 - 31,591,971 (+)Ensembl
RefSeq Acc Id: NM_000371   ⟹   NP_000362
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381831,591,877 - 31,598,821 (+)NCBI
GRCh371829,171,730 - 29,178,987 (+)ENTREZGENE
Build 361827,425,838 - 27,432,781 (+)NCBI Archive
HuRef1826,028,609 - 26,035,866 (+)ENTREZGENE
CHM1_11829,099,038 - 29,106,294 (+)NCBI
T2T-CHM13v2.01831,782,391 - 31,789,335 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000362 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA36784 (Get FASTA)   NCBI Sequence Viewer  
  AAA60011 (Get FASTA)   NCBI Sequence Viewer  
  AAA60012 (Get FASTA)   NCBI Sequence Viewer  
  AAA60013 (Get FASTA)   NCBI Sequence Viewer  
  AAA60018 (Get FASTA)   NCBI Sequence Viewer  
  AAA61181 (Get FASTA)   NCBI Sequence Viewer  
  AAA73473 (Get FASTA)   NCBI Sequence Viewer  
  AAA98771 (Get FASTA)   NCBI Sequence Viewer  
  AAB36045 (Get FASTA)   NCBI Sequence Viewer  
  AAD14098 (Get FASTA)   NCBI Sequence Viewer  
  AAD14937 (Get FASTA)   NCBI Sequence Viewer  
  AAD45014 (Get FASTA)   NCBI Sequence Viewer  
  AAH05310 (Get FASTA)   NCBI Sequence Viewer  
  AAH20791 (Get FASTA)   NCBI Sequence Viewer  
  AAL92041 (Get FASTA)   NCBI Sequence Viewer  
  AAL92042 (Get FASTA)   NCBI Sequence Viewer  
  AAL92043 (Get FASTA)   NCBI Sequence Viewer  
  AAP35853 (Get FASTA)   NCBI Sequence Viewer  
  ABI63351 (Get FASTA)   NCBI Sequence Viewer  
  ACJ13724 (Get FASTA)   NCBI Sequence Viewer  
  ADU87635 (Get FASTA)   NCBI Sequence Viewer  
  AXU41056 (Get FASTA)   NCBI Sequence Viewer  
  BAA00059 (Get FASTA)   NCBI Sequence Viewer  
  BAG34987 (Get FASTA)   NCBI Sequence Viewer  
  CAA42087 (Get FASTA)   NCBI Sequence Viewer  
  CAG33189 (Get FASTA)   NCBI Sequence Viewer  
  EAX01264 (Get FASTA)   NCBI Sequence Viewer  
  EAX01265 (Get FASTA)   NCBI Sequence Viewer  
  EAX01266 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000237014
  ENSP00000237014.4
  ENSP00000477599.2
  ENSP00000479174.2
  ENSP00000497927.1
  ENSP00000502027.1
GenBank Protein P02766 (Get FASTA)   NCBI Sequence Viewer  
  WBC51220 (Get FASTA)   NCBI Sequence Viewer  
  WBC51221 (Get FASTA)   NCBI Sequence Viewer  
  WBC51222 (Get FASTA)   NCBI Sequence Viewer  
  WBC51223 (Get FASTA)   NCBI Sequence Viewer  
  WBC51224 (Get FASTA)   NCBI Sequence Viewer  
  WBC51225 (Get FASTA)   NCBI Sequence Viewer  
  WBC51226 (Get FASTA)   NCBI Sequence Viewer  
  WBC51227 (Get FASTA)   NCBI Sequence Viewer  
  WBC51228 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_000362   ⟸   NM_000371
- Peptide Label: precursor
- UniProtKB: P02766 (UniProtKB/Swiss-Prot),   Q9UBZ6 (UniProtKB/Swiss-Prot),   Q6IB96 (UniProtKB/Swiss-Prot),   Q549C7 (UniProtKB/Swiss-Prot),   Q9UCM9 (UniProtKB/Swiss-Prot),   A6XMH1 (UniProtKB/TrEMBL),   E9KL36 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000497927   ⟸   ENST00000649620
Ensembl Acc Id: ENSP00000477599   ⟸   ENST00000610404
Ensembl Acc Id: ENSP00000479174   ⟸   ENST00000613781
Ensembl Acc Id: ENSP00000237014   ⟸   ENST00000237014
Ensembl Acc Id: ENSP00000502027   ⟸   ENST00000676075
Protein Domains
Transthyretin/hydroxyisourate hydrolase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P02766-F1-model_v2 AlphaFold P02766 1-147 view protein structure

Promoters
RGD ID:6849590
Promoter ID:EP16044
Type:single initiation site
Name:HS_TTR
Description:Prealbumin.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Notes:homology_group=Homology group 91; Mammalian prealbumin.
Tissues & Cell Lines:liver
Experiment Methods:Sequencing of a full-length cDNA
Position:
Human AssemblyChrPosition (strand)Source
Build 361827,425,838 - 27,425,898EPD
RGD ID:7237131
Promoter ID:EPDNEW_H24311
Type:multiple initiation site
Name:TTR_1
Description:transthyretin
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
GRCh381831,591,877 - 31,591,937EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12405 AgrOrtholog
COSMIC TTR COSMIC
Ensembl Genes ENSG00000118271 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000237014 ENTREZGENE
  ENST00000237014.8 UniProtKB/Swiss-Prot
  ENST00000610404.5 UniProtKB/TrEMBL
  ENST00000613781.2 UniProtKB/TrEMBL
  ENST00000649620.1 UniProtKB/Swiss-Prot
  ENST00000676075.1 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.180 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000118271 GTEx
HGNC ID HGNC:12405 ENTREZGENE
Human Proteome Map TTR Human Proteome Map
InterPro Thyroxine_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transthyretin/HIU_hydrolase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transthyretin/HIU_hydrolase_d UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transthyretin/HIU_hydrolase_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transthyretin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7276 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 7276 ENTREZGENE
OMIM 176300 OMIM
PANTHER PTHR10395 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10395:SF12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Transthyretin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37069 PharmGKB
PRINTS TRNSTHYRETIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TRANSTHYRETIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRANSTHYRETIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TR_THY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49472 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WT59_HUMAN UniProtKB/TrEMBL
  A0A087WV45_HUMAN UniProtKB/TrEMBL
  A6XMH1 ENTREZGENE, UniProtKB/TrEMBL
  E9KL36 ENTREZGENE, UniProtKB/TrEMBL
  P02766 ENTREZGENE
  Q13736_HUMAN UniProtKB/TrEMBL
  Q13739_HUMAN UniProtKB/TrEMBL
  Q549C7 ENTREZGENE
  Q6IB96 ENTREZGENE
  Q9UBZ6 ENTREZGENE
  Q9UCM9 ENTREZGENE
  TTHY_HUMAN UniProtKB/Swiss-Prot
  V9GZJ0_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q549C7 UniProtKB/Swiss-Prot
  Q6IB96 UniProtKB/Swiss-Prot
  Q9UBZ6 UniProtKB/Swiss-Prot
  Q9UCM9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 TTR  transthyretin  CTS1  carpal tunnel syndrome 1  Data merged from RGD:1349342 737654 PROVISIONAL