DNMT1 (DNA methyltransferase 1) - Rat Genome Database

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Gene: DNMT1 (DNA methyltransferase 1) Homo sapiens
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Symbol: DNMT1
Name: DNA methyltransferase 1
RGD ID: 1354178
HGNC Page HGNC:2976
Description: Enables DNA (cytosine-5-)-methyltransferase activity; DNA binding activity; and promoter-specific chromatin binding activity. Involved in several processes, including negative regulation of vascular associated smooth muscle cell apoptotic process; negative regulation of vascular associated smooth muscle cell differentiation involved in phenotypic switching; and regulation of gene expression. Located in nucleus. Implicated in Graves' disease; autosomal dominant cerebellar ataxia, deafness and narcolepsy; hereditary sensory neuropathy; hereditary sensory neuropathy type 1E; and lung non-small cell carcinoma. Biomarker of several diseases, including autoimmune disease of musculoskeletal system (multiple); carcinoma (multiple); endometriosis (multiple); lung cancer (multiple); and myeloid leukemia (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ADCADN; AIM; CXXC finger protein 9; CXXC-type zinc finger protein 9; CXXC9; DNA (cytosine-5)-methyltransferase 1; DNA (cytosine-5-)-methyltransferase 1; DNA methyltransferase HsaI; DNA MTase HsaI; DNMT; FLJ16293; HSN1E; m.HsaI; MCMT; MGC104992
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381910,133,346 - 10,194,953 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1910,133,342 - 10,231,286 (-)EnsemblGRCh38hg38GRCh38
GRCh371910,244,022 - 10,305,629 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361910,105,022 - 10,166,811 (-)NCBINCBI36Build 36hg18NCBI36
Build 341910,105,022 - 10,166,811NCBI
Celera1910,139,454 - 10,201,147 (-)NCBICelera
Cytogenetic Map19p13.2NCBI
HuRef199,824,670 - 9,886,268 (-)NCBIHuRef
CHM1_11910,244,307 - 10,306,021 (-)NCBICHM1_1
T2T-CHM13v2.01910,259,569 - 10,321,116 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acute myeloid leukemia  (IEP)
adenocarcinoma  (EXP)
Alcoholic Fatty Liver  (ISO)
alopecia areata  (IEP)
anxiety disorder  (EXP)
asthma  (EXP,ISO)
Ataxia  (IAGP)
autism spectrum disorder  (EXP)
autoimmune disease  (ISO)
autosomal dominant cerebellar ataxia, deafness and narcolepsy  (EXP,IAGP)
Beckwith-Wiedemann syndrome  (IAGP)
Binge Drinking  (ISO)
Brain Injuries  (ISO)
Breast Neoplasms  (EXP)
bronchiolo-alveolar adenocarcinoma  (IEP)
Carcinogenesis  (ISO)
carcinoma  (EXP)
cardiomyopathy  (ISO)
cerebellar ataxia  (IAGP)
Charcot-Marie-Tooth disease  (IAGP)
choline deficiency disease  (ISO)
choreatic disease  (IAGP)
chronic myeloid leukemia  (IEP)
clear cell renal cell carcinoma  (EXP)
Colonic Neoplasms  (EXP,ISO)
Colorectal Neoplasms  (ISO)
congenital heart disease  (ISO)
congestive heart failure  (ISO)
dementia  (EXP)
Endometrial Neoplasms  (IEP)
Endometrioid Carcinomas  (IEP)
endometriosis  (IEP)
endometriosis of uterus  (IEP)
Experimental Arthritis  (EXP)
fetal alcohol spectrum disorder  (ISO)
Fetal Growth Retardation  (ISO)
genetic disease  (IAGP)
Graves' disease  (IAGP)
Hearing Loss  (EXP)
hepatocellular carcinoma  (ISO)
hereditary sensory neuropathy  (EXP,IAGP)
hereditary sensory neuropathy type 1E  (EXP,IAGP)
hypertrophic cardiomyopathy  (IEP)
liver cirrhosis  (ISO)
lung cancer  (IEP)
lung carcinoma  (ISO)
lung non-small cell carcinoma  (IEP,IMP)
medulloblastoma  (EXP)
meningioma  (IAGP)
middle cerebral artery infarction  (ISO)
mucoepidermoid carcinoma  (IEP)
myelodysplastic syndrome  (EXP)
Neoplasm Invasiveness  (EXP)
Oral Lichen Planus  (IEP)
Ovarian Neoplasms  (IAGP)
pancreatic ductal carcinoma  (EXP,IEP)
Pancreatic Intraepithelial Neoplasia  (IEP)
Peritoneal Fibrosis  (ISO)
Pituitary Stalk Interruption Syndrome  (IAGP)
prostate adenocarcinoma  (ISO)
prostate cancer  (IEP)
prostate carcinoma in situ  (EXP)
Prostatic Neoplasms  (EXP,ISO)
rheumatoid arthritis  (IEP)
schizophrenia  (IEP,ISO)
sleep disorder  (IAGP)
spastic ataxia  (IAGP)
Spastic Paraparesis  (IAGP)
Stomach Neoplasms  (EXP)
systemic lupus erythematosus  (IEP)
type 2 diabetes mellitus  (ISO)
urinary bladder cancer  (IEP)
Uterine Cervical Neoplasms  (IEP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(-)-epigallocatechin 3-gallate  (EXP)
(S)-naringenin  (EXP)
(S)-nicotine  (ISO)
1,2-dimethylhydrazine  (ISO)
1-[3-(dimethylamino)propyl]-1-(4-fluorophenyl)-1,3-dihydro-2-benzofuran-5-carbonitrile  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-D  (ISO)
2,6-dinitrotoluene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3'-diindolylmethane  (EXP)
3,5-diethoxycarbonyl-1,4-dihydrocollidine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
3-methylcholanthrene  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-\{[4-(dimethylamino)phenyl]diazenyl\}phenyl-beta-lactoside  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5-(hydroxymethyl)cytosine  (EXP)
5-aza-2'-deoxycytidine  (EXP,ISO)
5-azacytidine  (EXP,ISO)
6-prenylnaringenin  (EXP)
7,12-dimethyltetraphene  (ISO)
8-hydroxy-2'-deoxyguanosine  (EXP)
9-cis-retinoic acid  (EXP)
acetamide  (ISO)
acetic acid  (EXP)
acetylsalicylic acid  (ISO)
acrolein  (EXP,ISO)
acrylamide  (EXP)
aflatoxin B1  (ISO)
aldehydo-D-glucose  (EXP)
all-trans-retinoic acid  (EXP)
allethrin  (ISO)
amitriptyline  (ISO)
amphetamine  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (ISO)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenous acid  (EXP,ISO)
atrazine  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzophenanthridine  (EXP)
berberine  (EXP)
beta-naphthoflavone  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP,ISO)
bleomycin A2  (EXP)
Brodifacoum  (EXP)
buta-1,3-diene  (ISO)
butyric acid  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP,ISO)
calciol  (EXP)
calcitriol  (EXP)
cantharidin  (EXP)
carbon nanotube  (ISO)
casticin  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
chromium atom  (ISO)
cisplatin  (EXP,ISO)
citalopram  (ISO)
cladribine  (EXP)
clofibrate  (ISO)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
coumarin  (EXP)
coumestrol  (EXP)
crocidolite asbestos  (EXP)
Cuprizon  (ISO)
curcumin  (EXP,ISO)
cyclophosphamide  (EXP)
cyclosporin A  (EXP,ISO)
cyhalothrin  (ISO)
cypermethrin  (ISO)
D-glucose  (EXP)
daidzein  (ISO)
daidzein 7-O-beta-D-glucoside  (ISO)
DDE  (ISO)
DDT  (ISO)
decabromodiphenyl ether  (EXP)
deoxynivalenol  (ISO)
desferrioxamine B  (EXP)
dexamethasone  (ISO)
diarsenic trioxide  (EXP,ISO)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
diethylstilbestrol  (ISO)
Difenacoum  (EXP)
dihydro-beta-erythroidine  (ISO)
dimethyl sulfate  (EXP)
dimethyl sulfoxide  (EXP)
dioxygen  (EXP)
disodium cromoglycate  (EXP)
disodium selenite  (EXP)
doxorubicin  (EXP,ISO)
elemental selenium  (ISO)
endosulfan  (EXP)
Enterolactone  (EXP)
entinostat  (ISO)
enzyme inhibitor  (EXP)
escitalopram  (ISO)
ethanol  (ISO)
etoposide  (EXP,ISO)
fenthion  (ISO)
fenvalerate  (ISO)
fisetin  (EXP)
Flocoumafen  (EXP)
folic acid  (EXP,ISO)
formaldehyde  (EXP)
FR900359  (EXP)
fulvestrant  (EXP,ISO)
fumonisin B1  (EXP)
gemcitabine  (EXP)
genistein  (EXP,ISO)
genistein 7-O-beta-D-glucoside  (ISO)
glucaric acid  (ISO)
glucose  (EXP)
glycine betaine  (ISO)
glycitein  (ISO)
glycitin  (ISO)
glyphosate  (EXP)
guggulsterone  (EXP)
hexadecanoic acid  (EXP)
hexane  (ISO)
homocysteine  (EXP)
hydrogen peroxide  (EXP,ISO)
hydroquinone  (EXP)
hydroxyurea  (EXP)
hypochlorous acid  (ISO)
ionomycin  (EXP)
ivermectin  (EXP)
L-methionine  (ISO)
lead diacetate  (ISO)
lead(0)  (EXP,ISO)
leptomycin B  (EXP)
linsidomine  (ISO)
magnesium atom  (EXP)
malathion  (ISO)
mancozeb  (ISO)
metformin  (ISO)
methamphetamine  (ISO)
methyl methanesulfonate  (EXP)
methylarsonic acid  (ISO)
methylmercury chloride  (EXP,ISO)
mitomycin C  (ISO)
mono(2-ethylhexyl) phthalate  (EXP,ISO)
monobenzyl phthalate  (EXP)
Monobutylphthalate  (EXP)
monoethyl phthalate  (EXP)
morphine  (ISO)
myricetin  (EXP)
N(4)-hydroxycytidine  (ISO)
N-acetyl-L-cysteine  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP,ISO)
N-ethyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
nicotinamide  (ISO)
nicotine  (ISO)
okadaic acid  (EXP)
oxaliplatin  (ISO)
ozone  (EXP,ISO)
paracetamol  (EXP,ISO)
paraquat  (EXP)
pelargonidin  (ISO)
pentachlorophenol  (ISO)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (EXP,ISO)
phenobarbital  (ISO)
PhIP  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
piroxicam  (EXP)
poly(I:C)  (EXP)
procyanidin B2  (EXP)
pterostilbene  (EXP)
Pyridostigmine bromide  (EXP)
quercetin  (EXP)
quinoline  (EXP,ISO)
resveratrol  (EXP,ISO)
rosmarinic acid  (EXP)
rotenone  (ISO)
S-adenosyl-L-homocysteine  (EXP,ISO)
S-adenosyl-L-methioninate  (EXP)
S-adenosyl-L-methionine  (EXP)
SB 431542  (EXP)
selenium atom  (ISO)
silicon dioxide  (EXP)
sinefungin  (EXP)
sirolimus  (EXP)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
Soman  (ISO)
streptozocin  (ISO)
sucrose  (ISO)
sulforaphane  (EXP)
T-2 toxin  (ISO)
tamoxifen  (ISO)
tangeretin  (ISO)
temozolomide  (EXP)
testosterone  (EXP,ISO)
tetrachloromethane  (ISO)
thapsigargin  (ISO)
thioacetamide  (ISO)
topotecan  (ISO)
Tributyltin oxide  (ISO)
trichloroethene  (ISO)
triclosan  (EXP)
trimellitic anhydride  (ISO)
trimethylarsine oxide  (ISO)
triptonide  (ISO)
troglitazone  (EXP,ISO)
trovafloxacin  (ISO)
tungsten  (ISO)
uranium atom  (ISO)
valproic acid  (ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
vitamin E  (EXP)
withaferin A  (EXP)
zearalenone  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
cellular response to amino acid stimulus  (IEA,ISO)
cellular response to bisphenol A  (IEA,ISO)
cellular response to lead ion  (ISO)
cellular response to nerve growth factor stimulus  (ISO)
cellular response to platelet-derived growth factor stimulus  (ISO)
cellular response to transforming growth factor beta stimulus  (ISO)
chromatin organization  (IEA)
chromosomal DNA methylation maintenance following DNA replication  (ISO,TAS)
DNA methylation-dependent heterochromatin formation  (IEA)
DNA-templated transcription  (IEA,ISO)
methylation  (IEA)
negative regulation of DNA-templated transcription  (IEA,ISO)
negative regulation of gene expression  (IEA,IMP,ISO)
negative regulation of gene expression via chromosomal CpG dinucleotide methylation  (IDA,IEA,IMP,ISO,TAS)
negative regulation of transcription by RNA polymerase II  (IEA,ISO,TAS)
negative regulation of vascular associated smooth muscle cell apoptotic process  (IMP)
negative regulation of vascular associated smooth muscle cell differentiation involved in phenotypic switching  (IMP)
neuron differentiation  (ISO)
positive regulation of gene expression  (IMP)
positive regulation of vascular associated smooth muscle cell proliferation  (IMP)
post-fertilization epigenetic regulation of gene expression  (IEA,ISO)
regulation of cell population proliferation  (IEA,ISO)
regulation of gene expression  (IEA,ISO)
response to activity  (ISO)
response to alcohol  (ISO)
response to caffeine  (ISO)
response to estradiol  (ISO)
response to ethanol  (ISO)
response to ionizing radiation  (ISO)
response to lead ion  (ISO)
response to lipopolysaccharide  (ISO)
response to nutrient levels  (ISO)
response to organic substance  (ISO)
response to testosterone  (ISO)
response to toxic substance  (ISO)
response to vitamin A  (ISO)
response to xenobiotic stimulus  (ISO)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cerebral white matter morphology  (IAGP)
Abnormal cerebrospinal fluid morphology  (IAGP)
Abnormal rapid eye movement sleep  (IAGP)
Abnormality of mitochondrial metabolism  (IAGP)
Apathy  (IAGP)
Ataxia  (IAGP)
Atrophy/Degeneration affecting the brainstem  (IAGP)
Autosomal dominant inheritance  (IAGP)
Babinski sign  (IAGP)
Cataplexy  (IAGP)
Cataract  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebral atrophy  (IAGP)
Decreased number of peripheral myelinated nerve fibers  (IAGP)
Delirium  (IAGP)
Dementia  (IAGP)
Depression  (IAGP)
Dilated third ventricle  (IAGP)
Distal muscle weakness  (IAGP)
Dyssynergia  (IAGP)
Excessive daytime somnolence  (IAGP)
Head tremor  (IAGP)
Hearing impairment  (IAGP)
Hyperreflexia  (IAGP)
Hypnagogic hallucination  (IAGP)
Hyporeflexia  (IAGP)
Impulsivity  (IAGP)
Irritability  (IAGP)
Memory impairment  (IAGP)
Meningioma  (IAGP)
Mental deterioration  (IAGP)
Middle age onset  (IAGP)
Narcolepsy  (IAGP)
Neuronal loss in central nervous system  (IAGP)
Nystagmus  (IAGP)
Optic atrophy  (IAGP)
Osteomyelitis  (IAGP)
Peripheral neuropathy  (IAGP)
Predominantly lower limb lymphedema  (IAGP)
Primitive reflex  (IAGP)
Progressive  (IAGP)
Pseudobulbar signs  (IAGP)
Psychosis  (IAGP)
Resting tremor  (IAGP)
Sensorineural hearing impairment  (IAGP)
Sensory neuropathy  (IAGP)
Sleep abnormality  (IAGP)
Sleep paralysis  (IAGP)
Spastic ataxia  (IAGP)
Spastic paraparesis  (IAGP)
Spasticity  (IAGP)
Type II diabetes mellitus  (IAGP)
Urinary incontinence  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Association of polymorphisms in DNMT1, DNMT3A, DNMT3B, MTHFR and MTRR genes with global DNA methylation levels and prognosis of autoimmune thyroid disease. Arakawa Y, etal., Clin Exp Immunol. 2012 Nov;170(2):194-201. doi: 10.1111/j.1365-2249.2012.04646.x.
2. Transcript levels of DNA methyltransferases DNMT1, DNMT3A and DNMT3B in CD4+ T cells from patients with systemic lupus erythematosus. Balada E, etal., Immunology. 2008 Jul;124(3):339-47. doi: 10.1111/j.1365-2567.2007.02771.x. Epub 2008 Jan 11.
3. Repression of Smad7 mediated by DNMT1 determines hepatic stellate cell activation and liver fibrosis in rats. Bian EB, etal., Toxicol Lett. 2014 Jan 13;224(2):175-85. doi: 10.1016/j.toxlet.2013.10.038. Epub 2013 Nov 6.
4. A review of methionine dependency and the role of methionine restriction in cancer growth control and life-span extension. Cavuoto P and Fenech MF, Cancer Treat Rev. 2012 Oct;38(6):726-36. doi: 10.1016/j.ctrv.2012.01.004. Epub 2012 Feb 17.
5. Cancer epigenetics: from mechanism to therapy. Dawson MA and Kouzarides T, Cell. 2012 Jul 6;150(1):12-27. doi: 10.1016/j.cell.2012.06.013.
6. Playing TETris with DNA modifications. Delatte B, etal., EMBO J. 2014 Jun 2;33(11):1198-211. doi: 10.15252/embj.201488290. Epub 2014 May 13.
7. Effects of cerebral ischemia in mice lacking DNA methyltransferase 1 in post-mitotic neurons. Endres M, etal., Neuroreport. 2001 Dec 4;12(17):3763-6.
8. Alteration in methylation pattern of GATA-4 promoter region in vitamin A-deficient offspring's heart. Feng Y, etal., J Nutr Biochem. 2013 Jul;24(7):1373-80. doi: 10.1016/j.jnutbio.2012.11.005. Epub 2013 Jan 17.
9. [Expression and significance of DNA methyltransferase in sera of patients with lung cancer]. Feng YJ, etal., Zhonghua Yi Xue Za Zhi. 2013 Dec 24;93(48):3822-5.
10. DNMT3B (C46359T) polymorphisms and immunoexpression of DNMT3b and DNMT1 proteins in oral lichen planus. Fonseca-Silva T, etal., Pathobiology. 2012;79(1):18-23. doi: 10.1159/000330171. Epub 2012 Jan 12.
11. Fetal Alcohol Exposure Reduces Dopamine Receptor D2 and Increases Pituitary Weight and Prolactin Production via Epigenetic Mechanisms. Gangisetty O, etal., PLoS One. 2015 Oct 28;10(10):e0140699. doi: 10.1371/journal.pone.0140699. eCollection 2015.
12. Promoter methylation of glutathione S-transferase pi1 and multidrug resistance gene 1 in bronchioloalveolar carcinoma and its correlation with DNA methyltransferase 1 expression. Gao P, etal., Cancer. 2009 Jul 15;115(14):3222-32.
13. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
14. Combination of selenium and green tea improves the efficacy of chemoprevention in a rat colorectal cancer model by modulating genetic and epigenetic biomarkers. Hu Y, etal., PLoS One. 2013 May 23;8(5):e64362. doi: 10.1371/journal.pone.0064362. Print 2013.
15. Heart failure and angiotensin II modulate atrial Pitx2c promotor methylation. Kao YH, etal., Clin Exp Pharmacol Physiol. 2013 Jun;40(6):379-84. doi: 10.1111/1440-1681.12089.
16. Uteroplacental insufficiency affects epigenetic determinants of chromatin structure in brains of neonatal and juvenile IUGR rats. Ke X, etal., Physiol Genomics. 2006 Mar 13;25(1):16-28. Epub 2005 Dec 27.
17. Effect of DNA Demethylation in Experimental Encapsulating Peritoneal Sclerosis. Kim KH, etal., Ther Apher Dial. 2014 Sep 26. doi: 10.1111/1744-9987.12186.
18. Opposing roles of Dnmt1 in early- and late-stage murine prostate cancer. Kinney SR, etal., Mol Cell Biol. 2010 Sep;30(17):4159-74. doi: 10.1128/MCB.00235-10. Epub 2010 Jun 28.
19. Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. Klein CJ, etal., Nat Genet. 2011 Jun;43(6):595-600. doi: 10.1038/ng.830. Epub 2011 May 1.
20. Gestational choline deficiency causes global and Igf2 gene DNA hypermethylation by up-regulation of Dnmt1 expression. Kovacheva VP, etal., J Biol Chem. 2007 Oct 26;282(43):31777-88. Epub 2007 Aug 27.
21. Reduced susceptibility of DNA methyltransferase 1 hypomorphic (Dnmt1N/+) mice to hepatic steatosis upon feeding liquid alcohol diet. Kutay H, etal., PLoS One. 2012;7(8):e41949. doi: 10.1371/journal.pone.0041949. Epub 2012 Aug 8.
22. Global DNA methylation, DNMT1, and MBD2 in patients with rheumatoid arthritis. Liu CC, etal., Immunol Lett. 2011 Mar 30;135(1-2):96-9. doi: 10.1016/j.imlet.2010.10.003. Epub 2010 Oct 16.
23. Aberrant methylation accounts for cell adhesion-related gene silencing during 3-methylcholanthrene and diethylnitrosamine induced multistep rat lung carcinogenesis associated with overexpression of DNA methyltransferases 1 and 3a. Liu WB, etal., Toxicol Appl Pharmacol. 2011 Feb 15;251(1):70-8. doi: 10.1016/j.taap.2010.12.002. Epub 2010 Dec 14.
24. Aberrant immunoreactivity of deoxyribonucleic acid methyltransferases in adenomyosis. Liu X and Guo SW, Gynecol Obstet Invest. 2012;74(2):100-8. Epub 2012 May 4.
25. Traumatic brain injury induces relocalization of DNA-methyltransferase 1. Lundberg J, etal., Neurosci Lett. 2009 Jun 19;457(1):8-11. doi: 10.1016/j.neulet.2009.03.105. Epub 2009 Apr 5.
26. Role of de novo DNA methyltransferases and methyl CpG-binding proteins in gene silencing in a rat hepatoma. Majumder S, etal., J Biol Chem. 2002 May 3;277(18):16048-58. Epub 2002 Feb 13.
27. Epigenetic modifications of GABAergic interneurons are associated with the schizophrenia-like phenotype induced by prenatal stress in mice. Matrisciano F, etal., Neuropharmacology. 2013 May;68:184-94. doi: 10.1016/j.neuropharm.2012.04.013. Epub 2012 Apr 28.
28. Antidepressant treatment is associated with epigenetic alterations in the promoter of P11 in a genetic model of depression. Melas PA, etal., Int J Neuropsychopharmacol. 2012 Jun;15(5):669-79. doi: 10.1017/S1461145711000940. Epub 2011 Jun 20.
29. Expression of DNA methyltransferases DNMT1, 3A, and 3B in normal hematopoiesis and in acute and chronic myelogenous leukemia. Mizuno S, etal., Blood. 2001 Mar 1;97(5):1172-9.
30. DNA methylation pathway alterations in an autochthonous murine model of prostate cancer. Morey SR, etal., Cancer Res. 2006 Dec 15;66(24):11659-67.
31. DNMT1, DNMT3A and DNMT3B gene variants in relation to ovarian cancer risk in the Polish population. Mostowska A, etal., Mol Biol Rep. 2013 Aug;40(8):4893-9. doi: 10.1007/s11033-013-2589-0. Epub 2013 May 12.
32. Increased DNA methyltransferase 1 protein expression in human transitional cell carcinoma of the bladder. Nakagawa T, etal., J Urol. 2003 Dec;170(6 Pt 1):2463-6.
33. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
34. Uteroplacental insufficiency increases apoptosis and alters p53 gene methylation in the full-term IUGR rat kidney. Pham TD, etal., Am J Physiol Regul Integr Comp Physiol. 2003 Nov;285(5):R962-70. Epub 2003 Jul 17.
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36. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
37. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
38. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
39. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
40. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
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44. 5-Azacytidine prevents cisplatin induced nephrotoxicity and potentiates anticancer activity of cisplatin by involving inhibition of metallothionein, pAKT and DNMT1 expression in chemical induced cancer rats. Tikoo K, etal., Toxicol Lett. 2009 Dec 15;191(2-3):158-66. doi: 10.1016/j.toxlet.2009.08.018. Epub 2009 Aug 31.
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Additional References at PubMed
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Genomics

Comparative Map Data
DNMT1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381910,133,346 - 10,194,953 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1910,133,342 - 10,231,286 (-)EnsemblGRCh38hg38GRCh38
GRCh371910,244,022 - 10,305,629 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361910,105,022 - 10,166,811 (-)NCBINCBI36Build 36hg18NCBI36
Build 341910,105,022 - 10,166,811NCBI
Celera1910,139,454 - 10,201,147 (-)NCBICelera
Cytogenetic Map19p13.2NCBI
HuRef199,824,670 - 9,886,268 (-)NCBIHuRef
CHM1_11910,244,307 - 10,306,021 (-)NCBICHM1_1
T2T-CHM13v2.01910,259,569 - 10,321,116 (-)NCBIT2T-CHM13v2.0
Dnmt1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39920,818,501 - 20,871,084 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl920,818,505 - 20,871,184 (-)EnsemblGRCm39 Ensembl
GRCm38920,907,206 - 20,959,888 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl920,907,209 - 20,959,888 (-)EnsemblGRCm38mm10GRCm38
MGSCv37920,711,653 - 20,757,317 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36920,657,611 - 20,703,267 (-)NCBIMGSCv36mm8
Celera918,175,907 - 18,221,569 (-)NCBICelera
Cytogenetic Map9A3NCBI
cM Map97.66NCBI
Dnmt1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8827,716,797 - 27,763,405 (-)NCBIGRCr8
mRatBN7.2819,440,611 - 19,486,659 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl819,440,611 - 19,486,659 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx823,459,969 - 23,505,932 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0821,757,816 - 21,803,779 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0819,670,294 - 19,716,334 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0821,922,515 - 21,968,495 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl821,922,515 - 21,968,495 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0821,978,830 - 22,024,656 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4819,926,995 - 19,973,256 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1819,927,666 - 19,973,220 (-)NCBI
Celera820,835,612 - 20,881,380 (-)NCBICelera
Cytogenetic Map8q13NCBI
Dnmt1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554951,465,480 - 1,505,462 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554951,465,529 - 1,505,379 (-)NCBIChiLan1.0ChiLan1.0
DNMT1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22015,048,374 - 15,112,823 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11914,048,694 - 14,110,457 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0199,681,847 - 9,745,334 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11910,342,478 - 10,390,397 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1910,342,478 - 10,406,972 (-)Ensemblpanpan1.1panPan2
DNMT1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12050,872,213 - 50,928,352 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2050,879,527 - 50,928,029 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2050,741,748 - 50,797,884 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02051,393,895 - 51,450,128 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2051,401,720 - 51,450,127 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12050,599,735 - 50,657,798 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02051,028,945 - 51,085,072 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02051,269,676 - 51,325,956 (+)NCBIUU_Cfam_GSD_1.0
Dnmt1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118209,789,213 - 209,834,531 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936659520,493 - 565,416 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936659520,181 - 565,496 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DNMT1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl268,981,566 - 69,029,844 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1268,981,564 - 69,040,364 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2269,309,511 - 69,357,838 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DNMT1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.169,199,006 - 9,263,890 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl69,199,003 - 9,263,607 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607410,795,260 - 10,857,063 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dnmt1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248282,315,251 - 2,358,711 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248282,316,042 - 2,358,866 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DNMT1
1116 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001130823.3(DNMT1):c.2979C>T (p.Ser993=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000542535] Chr19:10143903 [GRCh38]
Chr19:10254579 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.620A>C (p.Glu207Ala) single nucleotide variant not provided [RCV001507410] Chr19:10175568 [GRCh38]
Chr19:10286244 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.890A>G (p.Lys297Arg) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000560910]|Inborn genetic diseases [RCV002448767]|not provided [RCV001722508] Chr19:10166599 [GRCh38]
Chr19:10277275 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.2836G>A (p.Gly946Ser) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000687016]|not provided [RCV000521081] Chr19:10146409 [GRCh38]
Chr19:10257085 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.2377G>T (p.Ala793Ser) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000551197] Chr19:10149857 [GRCh38]
Chr19:10260533 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.569+10C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000553302] Chr19:10177282 [GRCh38]
Chr19:10287958 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys) single nucleotide variant Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002283444]|Charcot-Marie-Tooth disease [RCV000789093]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000022529]|not provided [RCV000236669] Chr19:10155017 [GRCh38]
Chr19:10265693 [GRCh37]
Chr19:19p13.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001130823.3(DNMT1):c.1518_1520delinsATA (p.Asp506_Pro507delinsGluTyr) indel Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000022530] Chr19:10155029..10155031 [GRCh38]
Chr19:10265705..10265707 [GRCh37]
Chr19:19p13.2
pathogenic
NC_000019.10:g.10195193ATTC[5] microsatellite not provided [RCV001571587] Chr19:10195191..10195192 [GRCh38]
Chr19:10305867..10305868 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4773+205C>T single nucleotide variant not provided [RCV001564391] Chr19:10135531 [GRCh38]
Chr19:10246207 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.81-3C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000558863]|Inborn genetic diseases [RCV002420504]|not provided [RCV001573162]|not specified [RCV000594777] Chr19:10182080 [GRCh38]
Chr19:10292756 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001130823.3(DNMT1):c.2937C>T (p.Pro979=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002067095]|not provided [RCV000729446] Chr19:10143945 [GRCh38]
Chr19:10254621 [GRCh37]
Chr19:19p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001130823.3(DNMT1):c.614C>T (p.Ser205Leu) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001236660]|not provided [RCV000728320] Chr19:10175574 [GRCh38]
Chr19:10286250 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1986C>T (p.Asn662=) single nucleotide variant Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002506362]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000559268] Chr19:10154326 [GRCh38]
Chr19:10265002 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.327C>T (p.Asn109=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001078855]|not provided [RCV000727879] Chr19:10180468 [GRCh38]
Chr19:10291144 [GRCh37]
Chr19:19p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001130823.3(DNMT1):c.4293+5T>C single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000551752]|Inborn genetic diseases [RCV003159901] Chr19:10137827 [GRCh38]
Chr19:10248503 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.328G>A (p.Gly110Arg) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000555892]|Inborn genetic diseases [RCV002324033] Chr19:10180467 [GRCh38]
Chr19:10291143 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4255G>A (p.Ala1419Thr) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001853649]|not provided [RCV000520107] Chr19:10137870 [GRCh38]
Chr19:10248546 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.493+1G>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002060348]|not provided [RCV000553664] Chr19:10180186 [GRCh38]
Chr19:10290862 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4444C>T (p.Arg1482Cys) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001857998]|Inborn genetic diseases [RCV003243168]|not provided [RCV000520613] Chr19:10137130 [GRCh38]
Chr19:10247806 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.4483G>A (p.Val1495Met) single nucleotide variant Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002476186]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000548151] Chr19:10137091 [GRCh38]
Chr19:10247767 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.1816G>T (p.Val606Phe) single nucleotide variant Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV000043631]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003447103] Chr19:10154602 [GRCh38]
Chr19:10265278 [GRCh37]
Chr19:19p13.2
pathogenic|uncertain significance
NM_001130823.3(DNMT1):c.1709C>T (p.Ala570Val) single nucleotide variant Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV000043632]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002513639]|not provided [RCV001092943] Chr19:10154709 [GRCh38]
Chr19:10265385 [GRCh37]
Chr19:19p13.2
pathogenic
NM_001130823.3(DNMT1):c.1814G>C (p.Gly605Ala) single nucleotide variant Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV000043633]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003447104] Chr19:10154604 [GRCh38]
Chr19:10265280 [GRCh37]
Chr19:19p13.2
pathogenic|likely pathogenic|uncertain significance
GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3 copy number gain See cases [RCV000052908] Chr19:8831147..13331227 [GRCh38]
Chr19:8941823..13442041 [GRCh37]
Chr19:8802823..13303041 [NCBI36]
Chr19:19p13.2-13.13
likely pathogenic
NM_001130823.3(DNMT1):c.4636C>G (p.Pro1546Ala) single nucleotide variant Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV000660480] Chr19:10136141 [GRCh38]
Chr19:10246817 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.206G>A (p.Arg69His) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000756034]|not provided [RCV001573952]|not specified [RCV000124761] Chr19:10180797 [GRCh38]
Chr19:10291473 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001130823.3(DNMT1):c.979A>G (p.Ile327Val) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000339574]|not specified [RCV000124762] Chr19:10162696 [GRCh38]
Chr19:10273372 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.1632C>A (p.Ile544=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000363269]|not specified [RCV000124763] Chr19:10154917 [GRCh38]
Chr19:10265593 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.891+8C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000543823]|not provided [RCV001572674]|not specified [RCV000174041] Chr19:10166590 [GRCh38]
Chr19:10277266 [GRCh37]
Chr19:19p13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_001130823.3(DNMT1):c.1531T>C (p.Tyr511His) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000149568]|not provided [RCV000236556] Chr19:10155018 [GRCh38]
Chr19:10265694 [GRCh37]
Chr19:19p13.2
pathogenic|conflicting interpretations of pathogenicity
NM_001130823.3(DNMT1):c.4845A>T (p.Lys1615Asn) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001349202]|not provided [RCV001762595] Chr19:10134236 [GRCh38]
Chr19:10244912 [GRCh37]
Chr19:19p13.2
uncertain significance
GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1 copy number loss See cases [RCV000135403] Chr19:9735443..11228001 [GRCh38]
Chr19:9846119..11338677 [GRCh37]
Chr19:9707119..11199677 [NCBI36]
Chr19:19p13.2
pathogenic
GRCh38/hg38 19p13.2(chr19:10156406-10889688)x3 copy number gain See cases [RCV000136738] Chr19:10156406..10889688 [GRCh38]
Chr19:10267082..11000364 [GRCh37]
Chr19:10128082..10861364 [NCBI36]
Chr19:19p13.2
pathogenic
NM_001130823.3(DNMT1):c.150C>T (p.His50=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001084104]|not provided [RCV000724451]|not specified [RCV000250596] Chr19:10180853 [GRCh38]
Chr19:10291529 [GRCh37]
Chr19:19p13.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001130823.3(DNMT1):c.3156C>T (p.His1052=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001078957]|not provided [RCV000177449] Chr19:10142181 [GRCh38]
Chr19:10252857 [GRCh37]
Chr19:19p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001130823.3(DNMT1):c.4428T>G (p.His1476Gln) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000755251]|Inborn genetic diseases [RCV002326974]|not provided [RCV001573463]|not specified [RCV000203118] Chr19:10137146 [GRCh38]
Chr19:10247822 [GRCh37]
Chr19:19p13.2
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001130823.3(DNMT1):c.407G>A (p.Arg136His) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000557552]|Inborn genetic diseases [RCV002324034] Chr19:10180388 [GRCh38]
Chr19:10291064 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.3031C>T (p.Arg1011Trp) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001854753]|not provided [RCV000218242] Chr19:10143851 [GRCh38]
Chr19:10254527 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.731G>A (p.Gly244Glu) single nucleotide variant Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002494602]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000546317]|Inborn genetic diseases [RCV002365164]|not provided [RCV001705233]|not specified [RCV000222882] Chr19:10173127 [GRCh38]
Chr19:10283803 [GRCh37]
Chr19:19p13.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001130823.3(DNMT1):c.406C>T (p.Arg136Cys) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000625705]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000549690]|Inborn genetic diseases [RCV002321845]|not provided [RCV000996738] Chr19:10180389 [GRCh38]
Chr19:10291065 [GRCh37]
Chr19:19p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001130823.3(DNMT1):c.919A>G (p.Lys307Glu) single nucleotide variant DNMT1-related condition [RCV003390974]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000536816]|not provided [RCV000216984] Chr19:10163333 [GRCh38]
Chr19:10274009 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.4193C>T (p.Ser1398Leu) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000795227]|Inborn genetic diseases [RCV002332537]|not provided [RCV000757171] Chr19:10137932 [GRCh38]
Chr19:10248608 [GRCh37]
Chr19:19p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001130823.3(DNMT1):c.950A>G (p.Glu317Gly) single nucleotide variant not provided [RCV000757176] Chr19:10162725 [GRCh38]
Chr19:10273401 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.382C>A (p.Pro128Thr) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000706094]|Inborn genetic diseases [RCV002356327]|not specified [RCV000235285] Chr19:10180413 [GRCh38]
Chr19:10291089 [GRCh37]
Chr19:19p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001130823.3(DNMT1):c.2693C>T (p.Thr898Ile) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001088607]|Inborn genetic diseases [RCV002429155]|not provided [RCV000235408] Chr19:10148911 [GRCh38]
Chr19:10259587 [GRCh37]
Chr19:19p13.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001130823.3(DNMT1):c.868G>A (p.Glu290Lys) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001082230]|Inborn genetic diseases [RCV002429151]|not provided [RCV000757173] Chr19:10166621 [GRCh38]
Chr19:10277297 [GRCh37]
Chr19:19p13.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001130823.3(DNMT1):c.3353A>G (p.His1118Arg) single nucleotide variant Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV001336229]|Beckwith-Wiedemann syndrome [RCV000625704]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000824537]|Inborn genetic diseases [RCV002321905]|not provided [RCV000235537] Chr19:10141146 [GRCh38]
Chr19:10251822 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1743_1746del (p.Asp581fs) deletion not provided [RCV000235546] Chr19:10154672..10154675 [GRCh38]
Chr19:10265348..10265351 [GRCh37]
Chr19:19p13.2
likely pathogenic|uncertain significance
NM_001130823.3(DNMT1):c.2689A>G (p.Lys897Glu) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000695162]|not provided [RCV000235606] Chr19:10148915 [GRCh38]
Chr19:10259591 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4876G>A (p.Glu1626Lys) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001084724]|Inborn genetic diseases [RCV002327161]|not provided [RCV000757172] Chr19:10133690 [GRCh38]
Chr19:10244366 [GRCh37]
Chr19:19p13.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001130823.3(DNMT1):c.341G>A (p.Arg114Lys) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000807203]|Inborn genetic diseases [RCV002450736]|not provided [RCV000235913] Chr19:10180454 [GRCh38]
Chr19:10291130 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.575C>T (p.Ala192Val) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001086953]|Inborn genetic diseases [RCV002347928]|not provided [RCV000757174] Chr19:10175613 [GRCh38]
Chr19:10286289 [GRCh37]
Chr19:19p13.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001130823.3(DNMT1):c.2315C>A (p.Thr772Asn) single nucleotide variant Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002487104]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001854878]|Inborn genetic diseases [RCV002446465]|not provided [RCV000236469] Chr19:10149919 [GRCh38]
Chr19:10260595 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.4001C>T (p.Ala1334Val) single nucleotide variant Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002479942]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001857804]|Inborn genetic diseases [RCV003165660]|not provided [RCV000236975] Chr19:10138553 [GRCh38]
Chr19:10249229 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.803+11C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002063989]|not specified [RCV000600878] Chr19:10168319 [GRCh38]
Chr19:10278995 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001130823.3(DNMT1):c.493+8C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000532934]|not provided [RCV001573052]|not specified [RCV000246523] Chr19:10180179 [GRCh38]
Chr19:10290855 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001130823.3(DNMT1):c.3117-8G>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000270703]|not specified [RCV000251603] Chr19:10142228 [GRCh38]
Chr19:10252904 [GRCh37]
Chr19:19p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001130823.3(DNMT1):c.290A>G (p.His97Arg) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000525539]|not provided [RCV000991907]|not specified [RCV000246863] Chr19:10180505 [GRCh38]
Chr19:10291181 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.768+18C>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002057980]|not provided [RCV001530880]|not specified [RCV000244687] Chr19:10173072 [GRCh38]
Chr19:10283748 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001130823.3(DNMT1):c.1782A>G (p.Thr594=) single nucleotide variant Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV001658197]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000306290]|not provided [RCV001534627]|not specified [RCV000247150] Chr19:10154636 [GRCh38]
Chr19:10265312 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.1832+14A>G single nucleotide variant Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV001658198]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000273263]|not provided [RCV001683010]|not specified [RCV000250299] Chr19:10154572 [GRCh38]
Chr19:10265248 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.768+12T>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000401791]|not provided [RCV001722299]|not specified [RCV000252889] Chr19:10173078 [GRCh38]
Chr19:10283754 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001130823.3(DNMT1):c.3939C>T (p.Gly1313=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000544232]|not provided [RCV000991908]|not specified [RCV000243364] Chr19:10139685 [GRCh38]
Chr19:10250361 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001130823.3(DNMT1):c.1389A>G (p.Pro463=) single nucleotide variant Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV001658196]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000385434]|not provided [RCV001618408]|not specified [RCV000245855] Chr19:10156401 [GRCh38]
Chr19:10267077 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.2382-4C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000559051]|not provided [RCV001573134]|not specified [RCV000443281] Chr19:10149661 [GRCh38]
Chr19:10260337 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001130823.3(DNMT1):c.4554C>T (p.His1518=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000352295]|not provided [RCV000300112] Chr19:10136223 [GRCh38]
Chr19:10246899 [GRCh37]
Chr19:19p13.2
benign|likely benign|uncertain significance
NM_001130823.3(DNMT1):c.*165T>G single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000283308]|not provided [RCV003422300] Chr19:10133502 [GRCh38]
Chr19:10244178 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.3696C>T (p.Asp1232=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000874257] Chr19:10140156 [GRCh38]
Chr19:10250832 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3413C>G (p.Ser1138Cys) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000874428]|not provided [RCV001582968]|not specified [RCV000732184] Chr19:10140891 [GRCh38]
Chr19:10251567 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001130823.3(DNMT1):c.1500C>T (p.Ala500=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000545959]|not provided [RCV001726118]|not specified [RCV000424954] Chr19:10155049 [GRCh38]
Chr19:10265725 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001130823.3(DNMT1):c.1861A>C (p.Arg621=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000649389]|not provided [RCV003221922] Chr19:10154451 [GRCh38]
Chr19:10265127 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2721-10T>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000540474]|not provided [RCV000304011] Chr19:10146534 [GRCh38]
Chr19:10257210 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.4894G>C (p.Asp1632His) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000344075]|Inborn genetic diseases [RCV003362758] Chr19:10133672 [GRCh38]
Chr19:10244348 [GRCh37]
Chr19:19p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001130823.3(DNMT1):c.916C>T (p.Pro306Ser) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000309242]|Inborn genetic diseases [RCV002374558] Chr19:10163336 [GRCh38]
Chr19:10274012 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3408C>G (p.Pro1136=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000873682]|not provided [RCV001705486] Chr19:10140896 [GRCh38]
Chr19:10251572 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001130823.3(DNMT1):c.977A>C (p.Gln326Pro) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000557162]|Inborn genetic diseases [RCV002374557]|not specified [RCV000602957] Chr19:10162698 [GRCh38]
Chr19:10273374 [GRCh37]
Chr19:19p13.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001130823.3(DNMT1):c.1224C>T (p.Asn408=) single nucleotide variant Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002502263]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000875535]|not provided [RCV001563516] Chr19:10159714 [GRCh38]
Chr19:10270390 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001130823.3(DNMT1):c.2676C>T (p.Phe892=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000871322]|not provided [RCV001705424]|not specified [RCV000342305] Chr19:10148928 [GRCh38]
Chr19:10259604 [GRCh37]
Chr19:19p13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_001130823.3(DNMT1):c.-34C>G single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000345581] Chr19:10194933 [GRCh38]
Chr19:10305609 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.633A>G (p.Glu211=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000649370]|not provided [RCV001690088] Chr19:10175555 [GRCh38]
Chr19:10286231 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001130823.3(DNMT1):c.3523+9C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002518017]|not provided [RCV000274504] Chr19:10140772 [GRCh38]
Chr19:10251448 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.1044-8del deletion Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV001660676]|Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002502264]|Dementia, Deafness, and Sensory Neuropathy [RCV000278836]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001521141]|not provided [RCV001573706]|not specified [RCV001726119] Chr19:10160071 [GRCh38]
Chr19:10270747 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001130823.3(DNMT1):c.3224G>A (p.Arg1075His) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001859661]|not provided [RCV000279535] Chr19:10142113 [GRCh38]
Chr19:10252789 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2472G>A (p.Thr824=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000528144]|not provided [RCV001311156]|not specified [RCV000434053] Chr19:10149567 [GRCh38]
Chr19:10260243 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001130823.3(DNMT1):c.1044-18dup duplication Dementia, Deafness, and Sensory Neuropathy [RCV000318835]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000878084] Chr19:10160070..10160071 [GRCh38]
Chr19:10270746..10270747 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.2463C>T (p.Leu821=) single nucleotide variant Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002504107]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000547570]|not provided [RCV001531880]|not specified [RCV001699457] Chr19:10149576 [GRCh38]
Chr19:10260252 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001130823.3(DNMT1):c.1044-9_1044-8del deletion Dementia, Deafness, and Sensory Neuropathy [RCV000375740]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001510272]|not provided [RCV001573408]|not specified [RCV001700061] Chr19:10160071..10160072 [GRCh38]
Chr19:10270747..10270748 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001130823.3(DNMT1):c.3948+4G>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001053369] Chr19:10139672 [GRCh38]
Chr19:10250348 [GRCh37]
Chr19:19p13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_001130823.3(DNMT1):c.387C>T (p.Pro129=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000649369]|not provided [RCV001575588] Chr19:10180408 [GRCh38]
Chr19:10291084 [GRCh37]
Chr19:19p13.2
benign|likely benign|uncertain significance
NM_001130823.3(DNMT1):c.358G>C (p.Val120Leu) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000543299]|not provided [RCV001573972]|not specified [RCV001699373] Chr19:10180437 [GRCh38]
Chr19:10291113 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001130823.3(DNMT1):c.981T>G (p.Ile327Met) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000537884]|Inborn genetic diseases [RCV002374556]|not provided [RCV001672549] Chr19:10162694 [GRCh38]
Chr19:10273370 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001130823.3(DNMT1):c.3351C>T (p.Asn1117=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000874537]|not provided [RCV001653593] Chr19:10141148 [GRCh38]
Chr19:10251824 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001130823.3(DNMT1):c.996C>T (p.Asp332=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000550222]|not provided [RCV001718684] Chr19:10162679 [GRCh38]
Chr19:10273355 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.3806+6C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001080416]|not provided [RCV000352192] Chr19:10140040 [GRCh38]
Chr19:10250716 [GRCh37]
Chr19:19p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001130823.3(DNMT1):c.2807G>A (p.Arg936Gln) single nucleotide variant Dementia, Deafness, and Sensory Neuropathy [RCV000332650]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001042762]|Inborn genetic diseases [RCV002436180] Chr19:10146438 [GRCh38]
Chr19:10257114 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2728G>T (p.Val910Leu) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000549552]|Inborn genetic diseases [RCV002436108]|not provided [RCV000389896] Chr19:10146517 [GRCh38]
Chr19:10257193 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.3949-5C>G single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001500503]|not provided [RCV000390541] Chr19:10138610 [GRCh38]
Chr19:10249286 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.4146G>A (p.Thr1382=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000649386]|not provided [RCV001540739] Chr19:10137979 [GRCh38]
Chr19:10248655 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001130823.3(DNMT1):c.*18C>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000291447] Chr19:10133649 [GRCh38]
Chr19:10244325 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.1436A>C (p.Glu479Ala) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000333241]|Inborn genetic diseases [RCV002392881]|not provided [RCV001358546] Chr19:10155909 [GRCh38]
Chr19:10266585 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.1287C>T (p.Tyr429=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001453327]|not provided [RCV000356717] Chr19:10156503 [GRCh38]
Chr19:10267179 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.3343C>T (p.Pro1115Ser) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000381513] Chr19:10141156 [GRCh38]
Chr19:10251832 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2626G>A (p.Gly876Arg) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000954808]|Inborn genetic diseases [RCV002450889]|not specified [RCV000606678] Chr19:10148978 [GRCh38]
Chr19:10259654 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001130823.3(DNMT1):c.1009-8C>G single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000336299] Chr19:10160426 [GRCh38]
Chr19:10271102 [GRCh37]
Chr19:19p13.2
benign|uncertain significance
NM_001130823.3(DNMT1):c.3394+7C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000265487] Chr19:10141098 [GRCh38]
Chr19:10251774 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2260G>A (p.Val754Ile) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000335290]|not provided [RCV002521178] Chr19:10151403 [GRCh38]
Chr19:10262079 [GRCh37]
Chr19:19p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001130823.3(DNMT1):c.*18C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000383667] Chr19:10133649 [GRCh38]
Chr19:10244325 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4657-15G>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000294798] Chr19:10135867 [GRCh38]
Chr19:10246543 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001130823.3(DNMT1):c.2117+13G>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000396321]|not provided [RCV001698506]|not specified [RCV000436704] Chr19:10151737 [GRCh38]
Chr19:10262413 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001130823.3(DNMT1):c.2835C>T (p.Asn945=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001468950]|not provided [RCV000726550]|not specified [RCV000292291] Chr19:10146410 [GRCh38]
Chr19:10257086 [GRCh37]
Chr19:19p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001130823.3(DNMT1):c.2019+15G>C single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000343312] Chr19:10154278 [GRCh38]
Chr19:10264954 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.2(DNMT1):c.-72C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000397927] Chr19:10194971 [GRCh38]
Chr19:10305647 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001130823.3(DNMT1):c.1944C>T (p.Phe648=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000546845]|not provided [RCV001812858]|not specified [RCV000421531] Chr19:10154368 [GRCh38]
Chr19:10265044 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001130823.3(DNMT1):c.469G>A (p.Ala157Thr) single nucleotide variant not provided [RCV000399928] Chr19:10180211 [GRCh38]
Chr19:10290887 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.410C>T (p.Thr137Met) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000534735]|Inborn genetic diseases [RCV003352838]|not provided [RCV000734145] Chr19:10180385 [GRCh38]
Chr19:10291061 [GRCh37]
Chr19:19p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001130823.3(DNMT1):c.483T>C (p.Thr161=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000541045]|not provided [RCV001697821] Chr19:10180197 [GRCh38]
Chr19:10290873 [GRCh37]
Chr19:19p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001130823.3(DNMT1):c.393C>T (p.Pro131=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001079861]|not provided [RCV000556631]|not specified [RCV000420016] Chr19:10180402 [GRCh38]
Chr19:10291078 [GRCh37]
Chr19:19p13.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001130823.3(DNMT1):c.926+10T>G single nucleotide variant not provided [RCV000332710] Chr19:10163316 [GRCh38]
Chr19:10273992 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1932C>T (p.Phe644=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000303859] Chr19:10154380 [GRCh38]
Chr19:10265056 [GRCh37]
Chr19:19p13.2
benign|likely benign|uncertain significance
NM_001130823.3(DNMT1):c.2020-10C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000649390]|not provided [RCV001705487] Chr19:10151857 [GRCh38]
Chr19:10262533 [GRCh37]
Chr19:19p13.2
benign|likely benign|uncertain significance
NM_001130823.3(DNMT1):c.3936C>T (p.Phe1312=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000354176] Chr19:10139688 [GRCh38]
Chr19:10250364 [GRCh37]
Chr19:19p13.2
benign|likely benign|uncertain significance
NM_001130823.3(DNMT1):c.385C>A (p.Pro129Thr) single nucleotide variant not provided [RCV000489739] Chr19:10180410 [GRCh38]
Chr19:10291086 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3184G>A (p.Asp1062Asn) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002570697]|not provided [RCV001552625] Chr19:10142153 [GRCh38]
Chr19:10252829 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1850G>A (p.Arg617Gln) single nucleotide variant not provided [RCV000523306] Chr19:10154462 [GRCh38]
Chr19:10265138 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.368C>G (p.Ala123Gly) single nucleotide variant not provided [RCV000490029] Chr19:10180427 [GRCh38]
Chr19:10291103 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3767A>G (p.Tyr1256Cys) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002527032]|not provided [RCV000490070] Chr19:10140085 [GRCh38]
Chr19:10250761 [GRCh37]
Chr19:19p13.2
likely pathogenic|uncertain significance
NM_001130823.3(DNMT1):c.3519A>C (p.Gln1173His) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000694898]|not provided [RCV000488960] Chr19:10140785 [GRCh38]
Chr19:10251461 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.*274T>C single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000380199] Chr19:10133393 [GRCh38]
Chr19:10244069 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.*126A>G single nucleotide variant Dementia, Deafness, and Sensory Neuropathy [RCV000322121] Chr19:10133541 [GRCh38]
Chr19:10244217 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.81-12del deletion Dementia, Deafness, and Sensory Neuropathy [RCV000287757]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002521179] Chr19:10182089 [GRCh38]
Chr19:10292765 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.2(DNMT1):c.*323C>G single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000278052] Chr19:10133344 [GRCh38]
Chr19:10244020 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001130823.3(DNMT1):c.4204A>T (p.Ile1402Phe) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000312518] Chr19:10137921 [GRCh38]
Chr19:10248597 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.500C>G (p.Pro167Arg) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000312581] Chr19:10177361 [GRCh38]
Chr19:10288037 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3196G>A (p.Val1066Met) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001410810]|Inborn genetic diseases [RCV002325125]|not provided [RCV000592659] Chr19:10142141 [GRCh38]
Chr19:10252817 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.2387C>T (p.Thr796Met) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000815334]|Inborn genetic diseases [RCV002456308]|not provided [RCV000597645] Chr19:10149652 [GRCh38]
Chr19:10260328 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.3232G>A (p.Val1078Met) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000703793]|not specified [RCV000414456] Chr19:10142105 [GRCh38]
Chr19:10252781 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.56C>T (p.Ser19Leu) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000806365]|not provided [RCV001559002]|not specified [RCV000414738] Chr19:10194844 [GRCh38]
Chr19:10305520 [GRCh37]
Chr19:19p13.2
uncertain significance|no classifications from unflagged records
NM_001130823.3(DNMT1):c.1314C>T (p.Ile438=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001413462]|not provided [RCV000735064] Chr19:10156476 [GRCh38]
Chr19:10267152 [GRCh37]
Chr19:19p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001130823.3(DNMT1):c.3362G>T (p.Ser1121Ile) single nucleotide variant Sleep abnormality [RCV000735392] Chr19:10141137 [GRCh38]
Chr19:10251813 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.391C>T (p.Pro131Ser) single nucleotide variant Dyssynergia [RCV000415045]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001240588] Chr19:10180404 [GRCh38]
Chr19:10291080 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2718C>G (p.Phe906Leu) single nucleotide variant Cerebellar ataxia [RCV000415217] Chr19:10148886 [GRCh38]
Chr19:10259562 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.81-7C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001418838] Chr19:10182084 [GRCh38]
Chr19:10292760 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2950C>A (p.Leu984Met) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001337609]|not provided [RCV000734012] Chr19:10143932 [GRCh38]
Chr19:10254608 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3975T>C (p.Thr1325=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000537211] Chr19:10138579 [GRCh38]
Chr19:10249255 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2602G>A (p.Glu868Lys) single nucleotide variant not specified [RCV000414199] Chr19:10149002 [GRCh38]
Chr19:10259678 [GRCh37]
Chr19:19p13.2
uncertain significance
GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426) copy number gain See cases [RCV000446985] Chr19:9678768..14853426 [GRCh37]
Chr19:19p13.2-13.12
pathogenic
GRCh37/hg19 19p13.2(chr19:10286133-11040457)x1 copy number loss See cases [RCV000446752] Chr19:10286133..11040457 [GRCh37]
Chr19:19p13.2
pathogenic
NM_001130823.3(DNMT1):c.80+11T>C single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002521631]|not specified [RCV000437804] Chr19:10194809 [GRCh38]
Chr19:10305485 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1245T>C (p.Tyr415=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000877585]|not specified [RCV000427518] Chr19:10159693 [GRCh38]
Chr19:10270369 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1053A>G (p.Lys351=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000649376]|not provided [RCV001703639] Chr19:10160054 [GRCh38]
Chr19:10270730 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3807-14C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002061644]|not provided [RCV001810906]|not specified [RCV000434745] Chr19:10139831 [GRCh38]
Chr19:10250507 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3117-9C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000554992]|not provided [RCV001720097] Chr19:10142229 [GRCh38]
Chr19:10252905 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1722G>A (p.Val574=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000870504]|not provided [RCV001753855] Chr19:10154696 [GRCh38]
Chr19:10265372 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001130823.3(DNMT1):c.-45C>T single nucleotide variant not specified [RCV000428178] Chr19:10194944 [GRCh38]
Chr19:10305620 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1832+10C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001433215]|not specified [RCV000438580] Chr19:10154576 [GRCh38]
Chr19:10265252 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2010C>T (p.Gly670=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000876892]|not provided [RCV001704467] Chr19:10154302 [GRCh38]
Chr19:10264978 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001130823.3(DNMT1):c.2913C>T (p.Pro971=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000939547]|not provided [RCV001720166] Chr19:10143969 [GRCh38]
Chr19:10254645 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.117+19T>C single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002058896]|not provided [RCV001727715]|not specified [RCV000421267] Chr19:10182022 [GRCh38]
Chr19:10292698 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001130823.3(DNMT1):c.925C>G (p.Leu309Val) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000544895]|not provided [RCV001712291] Chr19:10163327 [GRCh38]
Chr19:10274003 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001130823.3(DNMT1):c.2382-15G>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002065048]|not specified [RCV000418803] Chr19:10149672 [GRCh38]
Chr19:10260348 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001130823.3(DNMT1):c.4599C>T (p.Leu1533=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000873521]|not provided [RCV001698143] Chr19:10136178 [GRCh38]
Chr19:10246854 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001130823.3(DNMT1):c.1131C>T (p.Asp377=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002064965]|not specified [RCV000421761] Chr19:10159881 [GRCh38]
Chr19:10270557 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2587-18G>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002521674]|not specified [RCV000442989] Chr19:10149035 [GRCh38]
Chr19:10259711 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1707C>T (p.His569=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002522438]|not specified [RCV000421971] Chr19:10154711 [GRCh38]
Chr19:10265387 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4116-9C>T single nucleotide variant not specified [RCV000432440] Chr19:10138018 [GRCh38]
Chr19:10248694 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2914G>A (p.Val972Met) single nucleotide variant DNMT1-related condition [RCV003392234]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000695923]|Inborn genetic diseases [RCV002436243]|not provided [RCV000427007] Chr19:10143968 [GRCh38]
Chr19:10254644 [GRCh37]
Chr19:19p13.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001130823.3(DNMT1):c.1116C>T (p.Cys372=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002059657]|not specified [RCV000436229] Chr19:10159896 [GRCh38]
Chr19:10270572 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4032G>A (p.Pro1344=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000791920]|not provided [RCV000439839] Chr19:10138522 [GRCh38]
Chr19:10249198 [GRCh37]
Chr19:19p13.2
benign|likely benign|uncertain significance
NM_001130823.3(DNMT1):c.4294-17C>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002061376]|not provided [RCV001810883]|not specified [RCV000436291] Chr19:10137297 [GRCh38]
Chr19:10247973 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.4294-19G>C single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002061375]|not provided [RCV001810882]|not specified [RCV000426039] Chr19:10137299 [GRCh38]
Chr19:10247975 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.4115+16C>T single nucleotide variant not specified [RCV000426118] Chr19:10138423 [GRCh38]
Chr19:10249099 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4503C>T (p.Cys1501=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000528743]|not provided [RCV001705567]|not specified [RCV000426319] Chr19:10136274 [GRCh38]
Chr19:10246950 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001130823.3(DNMT1):c.1896G>A (p.Thr632=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000649368]|not provided [RCV001697843] Chr19:10154416 [GRCh38]
Chr19:10265092 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001130823.3(DNMT1):c.1280+14C>G single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002061374]|not specified [RCV000444085] Chr19:10159644 [GRCh38]
Chr19:10270320 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001130823.3(DNMT1):c.45C>A (p.Val15=) single nucleotide variant not specified [RCV000444357] Chr19:10194855 [GRCh38]
Chr19:10305531 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1095C>T (p.His365=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000545042]|not provided [RCV001810901]|not specified [RCV000444392] Chr19:10159917 [GRCh38]
Chr19:10270593 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.3283G>A (p.Gly1095Ser) single nucleotide variant not provided [RCV000420493] Chr19:10142054 [GRCh38]
Chr19:10252730 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1206G>C (p.Leu402=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000552950]|not provided [RCV001720187] Chr19:10159732 [GRCh38]
Chr19:10270408 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001130823.3(DNMT1):c.4773+18C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002061377]|not specified [RCV000437429] Chr19:10135718 [GRCh38]
Chr19:10246394 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001130823.3(DNMT1):c.4734C>T (p.Thr1578=) single nucleotide variant not specified [RCV000437509] Chr19:10135775 [GRCh38]
Chr19:10246451 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1535C>T (p.Ala512Val) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002525954]|Inborn genetic diseases [RCV003352891]|not provided [RCV000480106] Chr19:10155014 [GRCh38]
Chr19:10265690 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1058T>C (p.Met353Thr) single nucleotide variant not provided [RCV000481913] Chr19:10160049 [GRCh38]
Chr19:10270725 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1080G>A (p.Met360Ile) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001856874]|not provided [RCV000478729] Chr19:10160027 [GRCh38]
Chr19:10270703 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2791G>A (p.Glu931Lys) single nucleotide variant DNMT1-Related Disorder [RCV000509183]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002524939] Chr19:10146454 [GRCh38]
Chr19:10257130 [GRCh37]
Chr19:19p13.2
uncertain significance|not provided
NM_001130823.3(DNMT1):c.4896C>G (p.Asp1632Glu) single nucleotide variant not provided [RCV003313691] Chr19:10133670 [GRCh38]
Chr19:10244346 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3492C>T (p.Cys1164=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001513298]|not provided [RCV000531964] Chr19:10140812 [GRCh38]
Chr19:10251488 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001130823.3(DNMT1):c.1378G>C (p.Asp460His) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000533491] Chr19:10156412 [GRCh38]
Chr19:10267088 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1833-4G>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000534393] Chr19:10154483 [GRCh38]
Chr19:10265159 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2383G>A (p.Val795Ile) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000535098] Chr19:10149656 [GRCh38]
Chr19:10260332 [GRCh37]
Chr19:19p13.2
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_001130823.3(DNMT1):c.520A>C (p.Thr174Pro) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000540967]|Inborn genetic diseases [RCV002341427]|not provided [RCV001092944] Chr19:10177341 [GRCh38]
Chr19:10288017 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
NM_001130823.3(DNMT1):c.1536G>A (p.Ala512=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000915552]|not provided [RCV001722570] Chr19:10155013 [GRCh38]
Chr19:10265689 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3262G>A (p.Val1088Ile) single nucleotide variant Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV001535746]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000538884]|Inborn genetic diseases [RCV002324032]|not provided [RCV001584318] Chr19:10142075 [GRCh38]
Chr19:10252751 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance|not provided
NM_001130823.3(DNMT1):c.2720+8C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001425240]|not specified [RCV000600519] Chr19:10148876 [GRCh38]
Chr19:10259552 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.734C>T (p.Thr245Met) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000797299]|Inborn genetic diseases [RCV002368006]|not provided [RCV000597356] Chr19:10173124 [GRCh38]
Chr19:10283800 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.3310-18C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002064365]|not specified [RCV000610979] Chr19:10141207 [GRCh38]
Chr19:10251883 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4293+17A>G single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002532796]|not specified [RCV000613793] Chr19:10137815 [GRCh38]
Chr19:10248491 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4368C>T (p.Pro1456=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000527757]|not provided [RCV001697001] Chr19:10137206 [GRCh38]
Chr19:10247882 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001130823.3(DNMT1):c.687T>G (p.Val229=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000529445] Chr19:10173171 [GRCh38]
Chr19:10283847 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1070A>G (p.Lys357Arg) single nucleotide variant not provided [RCV003314917] Chr19:10160037 [GRCh38]
Chr19:10270713 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3831G>T (p.Arg1277=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000531743] Chr19:10139793 [GRCh38]
Chr19:10250469 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3186C>T (p.Asp1062=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000873962]|not provided [RCV001718933] Chr19:10142151 [GRCh38]
Chr19:10252827 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001130823.3(DNMT1):c.4490-4C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001484715]|Inborn genetic diseases [RCV002331053]|not provided [RCV001697879] Chr19:10136291 [GRCh38]
Chr19:10246967 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3524-16G>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002063196]|not specified [RCV000614888] Chr19:10140344 [GRCh38]
Chr19:10251020 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3668G>A (p.Arg1223His) single nucleotide variant Beckwith-Wiedemann syndrome [RCV000625706]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000813215]|Inborn genetic diseases [RCV002460080]|not provided [RCV002225636] Chr19:10140184 [GRCh38]
Chr19:10250860 [GRCh37]
Chr19:19p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001130823.3(DNMT1):c.4327C>A (p.His1443Asn) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000649352] Chr19:10137247 [GRCh38]
Chr19:10247923 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.78G>C (p.Arg26Ser) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000649353] Chr19:10194822 [GRCh38]
Chr19:10305498 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.299A>G (p.Asn100Ser) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000649354] Chr19:10180496 [GRCh38]
Chr19:10291172 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.874G>A (p.Glu292Lys) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000649355] Chr19:10166615 [GRCh38]
Chr19:10277291 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1066G>A (p.Ala356Thr) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000649356] Chr19:10160041 [GRCh38]
Chr19:10270717 [GRCh37]
Chr19:19p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001130823.3(DNMT1):c.1064G>A (p.Arg355His) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000649357]|Inborn genetic diseases [RCV002334182]|not provided [RCV001592810] Chr19:10160043 [GRCh38]
Chr19:10270719 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.737G>A (p.Arg246His) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000649358]|not provided [RCV001584496] Chr19:10173121 [GRCh38]
Chr19:10283797 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.2794G>A (p.Asp932Asn) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000649359]|Inborn genetic diseases [RCV002440348] Chr19:10146451 [GRCh38]
Chr19:10257127 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3523+6C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000649360]|Inborn genetic diseases [RCV002334183]|not provided [RCV001562443] Chr19:10140775 [GRCh38]
Chr19:10251451 [GRCh37]
Chr19:19p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001130823.3(DNMT1):c.4427A>G (p.His1476Arg) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000649361] Chr19:10137147 [GRCh38]
Chr19:10247823 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.316C>T (p.Arg106Cys) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000649362] Chr19:10180479 [GRCh38]
Chr19:10291155 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.382C>T (p.Pro128Ser) single nucleotide variant Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002499108]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000649363]|Inborn genetic diseases [RCV002358866] Chr19:10180413 [GRCh38]
Chr19:10291089 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.1645-10C>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000649364] Chr19:10154783 [GRCh38]
Chr19:10265459 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2018A>G (p.Glu673Gly) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000649365] Chr19:10154294 [GRCh38]
Chr19:10264970 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2474C>T (p.Ser825Leu) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000649366] Chr19:10149565 [GRCh38]
Chr19:10260241 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.225+4A>G single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000649367] Chr19:10180774 [GRCh38]
Chr19:10291450 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1845G>A (p.Ala615=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000649371]|not provided [RCV001613426] Chr19:10154467 [GRCh38]
Chr19:10265143 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.493+7G>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000649372] Chr19:10180180 [GRCh38]
Chr19:10290856 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2667C>T (p.Tyr889=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000649373]|not provided [RCV001555749] Chr19:10148937 [GRCh38]
Chr19:10259613 [GRCh37]
Chr19:19p13.2
likely benign|conflicting interpretations of pathogenicity
NM_001130823.3(DNMT1):c.1911C>T (p.Thr637=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001446087] Chr19:10154401 [GRCh38]
Chr19:10265077 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1608C>T (p.Ser536=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000649375] Chr19:10154941 [GRCh38]
Chr19:10265617 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2625C>T (p.Asp875=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000649377] Chr19:10148979 [GRCh38]
Chr19:10259655 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2268T>C (p.Thr756=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000649378]|not provided [RCV000757175] Chr19:10149966 [GRCh38]
Chr19:10260642 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1044-9T>C single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000649379] Chr19:10160072 [GRCh38]
Chr19:10270748 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4860C>T (p.Ala1620=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001127208]|not provided [RCV000649380] Chr19:10134221 [GRCh38]
Chr19:10244897 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.2475G>A (p.Ser825=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000649381]|not provided [RCV001554931] Chr19:10149564 [GRCh38]
Chr19:10260240 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4140C>T (p.Thr1380=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000649382] Chr19:10137985 [GRCh38]
Chr19:10248661 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.390A>G (p.Lys130=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000649383]|not provided [RCV001592811] Chr19:10180405 [GRCh38]
Chr19:10291081 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1281T>C (p.Ser427=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000649384] Chr19:10156509 [GRCh38]
Chr19:10267185 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1320C>T (p.Thr440=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001087755]|not provided [RCV000649385] Chr19:10156470 [GRCh38]
Chr19:10267146 [GRCh37]
Chr19:19p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001130823.3(DNMT1):c.3840C>G (p.Leu1280=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000649387] Chr19:10139784 [GRCh38]
Chr19:10250460 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1821G>A (p.Thr607=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000649388] Chr19:10154597 [GRCh38]
Chr19:10265273 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.683+16A>C single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002063260]|not specified [RCV000602168] Chr19:10173855 [GRCh38]
Chr19:10284531 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001130823.3(DNMT1):c.3963C>T (p.Gly1321=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002529368]|not specified [RCV000607706] Chr19:10138591 [GRCh38]
Chr19:10249267 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2894+15G>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002065359]|not specified [RCV000600091] Chr19:10146336 [GRCh38]
Chr19:10257012 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2587-19C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002063153]|not specified [RCV000606021] Chr19:10149036 [GRCh38]
Chr19:10259712 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.856G>A (p.Val286Met) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000692423]|not provided [RCV000657954] Chr19:10166633 [GRCh38]
Chr19:10277309 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.1303C>G (p.Leu435Val) single nucleotide variant not provided [RCV000658816] Chr19:10156487 [GRCh38]
Chr19:10267163 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3909G>A (p.Leu1303=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000685739] Chr19:10139715 [GRCh38]
Chr19:10250391 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.4181G>A (p.Arg1394Gln) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000699044] Chr19:10137944 [GRCh38]
Chr19:10248620 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4216G>A (p.Gly1406Arg) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000699651] Chr19:10137909 [GRCh38]
Chr19:10248585 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3830G>A (p.Arg1277Gln) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000698993]|Inborn genetic diseases [RCV002360785] Chr19:10139794 [GRCh38]
Chr19:10250470 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.301C>T (p.Arg101Trp) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000700835]|Inborn genetic diseases [RCV002440510]|not provided [RCV001531881]|not specified [RCV001815008] Chr19:10180494 [GRCh38]
Chr19:10291170 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.1393C>G (p.Leu465Val) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000700412] Chr19:10156397 [GRCh38]
Chr19:10267073 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2926C>T (p.Arg976Trp) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000701509] Chr19:10143956 [GRCh38]
Chr19:10254632 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3901C>T (p.Arg1301Cys) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000692836] Chr19:10139723 [GRCh38]
Chr19:10250399 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2030A>G (p.Gln677Arg) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000693098] Chr19:10151837 [GRCh38]
Chr19:10262513 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2113C>T (p.Arg705Trp) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000707569] Chr19:10151754 [GRCh38]
Chr19:10262430 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1983G>T (p.Glu661Asp) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000694070] Chr19:10154329 [GRCh38]
Chr19:10265005 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4741C>T (p.Leu1581Phe) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000688812] Chr19:10135768 [GRCh38]
Chr19:10246444 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3293G>A (p.Arg1098His) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000688870] Chr19:10142044 [GRCh38]
Chr19:10252720 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.938G>A (p.Arg313Gln) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000699287] Chr19:10162737 [GRCh38]
Chr19:10273413 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3498G>T (p.Gly1166=) single nucleotide variant Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002493134]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000684934] Chr19:10140806 [GRCh38]
Chr19:10251482 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.803C>T (p.Pro268Leu) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000686192]|Inborn genetic diseases [RCV002388197]|not provided [RCV001756156] Chr19:10168330 [GRCh38]
Chr19:10279006 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.63C>A (p.Pro21=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000706619] Chr19:10194837 [GRCh38]
Chr19:10305513 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.229G>A (p.Gly77Ser) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000692609]|Inborn genetic diseases [RCV002442450] Chr19:10180566 [GRCh38]
Chr19:10291242 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.695C>T (p.Pro232Leu) single nucleotide variant Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002485629]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000689851] Chr19:10173163 [GRCh38]
Chr19:10283839 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.526A>C (p.Lys176Gln) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000695747]|Inborn genetic diseases [RCV002334316] Chr19:10177335 [GRCh38]
Chr19:10288011 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.1108A>C (p.Ile370Leu) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000696024] Chr19:10159904 [GRCh38]
Chr19:10270580 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2108A>G (p.Gln703Arg) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000696146] Chr19:10151759 [GRCh38]
Chr19:10262435 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.302G>A (p.Arg101Gln) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000703179] Chr19:10180493 [GRCh38]
Chr19:10291169 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.894_896del (p.Asp298del) deletion Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000685139] Chr19:10163356..10163358 [GRCh38]
Chr19:10274032..10274034 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4739G>A (p.Arg1580Gln) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000699020] Chr19:10135770 [GRCh38]
Chr19:10246446 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4819G>A (p.Glu1607Lys) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000700930] Chr19:10134262 [GRCh38]
Chr19:10244938 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2068G>A (p.Val690Ile) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000706160] Chr19:10151799 [GRCh38]
Chr19:10262475 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.857T>C (p.Val286Ala) single nucleotide variant Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002485677]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000694576]|Inborn genetic diseases [RCV002422518]|not provided [RCV001507409] Chr19:10166632 [GRCh38]
Chr19:10277308 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4608C>T (p.Asp1536=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001481828]|not specified [RCV001000312] Chr19:10136169 [GRCh38]
Chr19:10246845 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.569+260C>G single nucleotide variant not provided [RCV001582275] Chr19:10177032 [GRCh38]
Chr19:10287708 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2586+99G>T single nucleotide variant not provided [RCV001540884] Chr19:10149354 [GRCh38]
Chr19:10260030 [GRCh37]
Chr19:19p13.2
benign
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_001130823.3(DNMT1):c.4752C>T (p.Asn1584=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001424294] Chr19:10135757 [GRCh38]
Chr19:10246433 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4816T>C (p.Leu1606=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001436818] Chr19:10134265 [GRCh38]
Chr19:10244941 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3524-59dup duplication not provided [RCV001609481] Chr19:10140372..10140373 [GRCh38]
Chr19:10251048..10251049 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.489T>G (p.Ile163Met) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002570831]|not provided [RCV001584737] Chr19:10180191 [GRCh38]
Chr19:10290867 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4209C>T (p.Ser1403=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001464060] Chr19:10137916 [GRCh38]
Chr19:10248592 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3311C>T (p.Ala1104Val) single nucleotide variant Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV003448393]|Spastic ataxia [RCV001647187] Chr19:10141188 [GRCh38]
Chr19:10251864 [GRCh37]
Chr19:19p13.2
likely pathogenic|uncertain significance
NM_001130823.3(DNMT1):c.3816C>T (p.Asp1272=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000938296] Chr19:10139808 [GRCh38]
Chr19:10250484 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4671C>T (p.His1557=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001495793] Chr19:10135838 [GRCh38]
Chr19:10246514 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3948+239G>A single nucleotide variant not provided [RCV001547026] Chr19:10139437 [GRCh38]
Chr19:10250113 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1008+27dup duplication not provided [RCV001725534] Chr19:10162620..10162621 [GRCh38]
Chr19:10273296..10273297 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.4774-94T>A single nucleotide variant not provided [RCV001725565] Chr19:10134401 [GRCh38]
Chr19:10245077 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.3310-114A>C single nucleotide variant not provided [RCV001577307] Chr19:10141303 [GRCh38]
Chr19:10251979 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.901A>C (p.Lys301Gln) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001066190] Chr19:10163351 [GRCh38]
Chr19:10274027 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4514C>G (p.Ala1505Gly) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001066349] Chr19:10136263 [GRCh38]
Chr19:10246939 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4091A>G (p.Lys1364Arg) single nucleotide variant not provided [RCV000996735] Chr19:10138463 [GRCh38]
Chr19:10249139 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.684-256dup duplication not provided [RCV001567843] Chr19:10173427..10173428 [GRCh38]
Chr19:10284103..10284104 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4657-27C>G single nucleotide variant not provided [RCV001586250] Chr19:10135879 [GRCh38]
Chr19:10246555 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4865-177C>T single nucleotide variant not provided [RCV001666738] Chr19:10133878 [GRCh38]
Chr19:10244554 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.2019+78CT[2] microsatellite not provided [RCV001681766] Chr19:10154210..10154211 [GRCh38]
Chr19:10264886..10264887 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.2706G>A (p.Glu902=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001415736] Chr19:10148898 [GRCh38]
Chr19:10259574 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1296C>T (p.His432=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001426633] Chr19:10156494 [GRCh38]
Chr19:10267170 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3546C>T (p.Ala1182=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001468036] Chr19:10140306 [GRCh38]
Chr19:10250982 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4722C>A (p.Gly1574=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001470617] Chr19:10135787 [GRCh38]
Chr19:10246463 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2697G>A (p.Gln899=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000946136]|not provided [RCV001644864] Chr19:10148907 [GRCh38]
Chr19:10259583 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001130823.3(DNMT1):c.2430C>T (p.Ala810=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001417973] Chr19:10149609 [GRCh38]
Chr19:10260285 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1749C>T (p.Ala583=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001501305]|not provided [RCV000870644] Chr19:10154669 [GRCh38]
Chr19:10265345 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2976C>T (p.Tyr992=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000915229] Chr19:10143906 [GRCh38]
Chr19:10254582 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4785C>T (p.Ala1595=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000945457] Chr19:10134296 [GRCh38]
Chr19:10244972 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1493-11_1493-9dup duplication Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001497555] Chr19:10155064..10155065 [GRCh38]
Chr19:10265740..10265741 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4839G>A (p.Leu1613=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001503762] Chr19:10134242 [GRCh38]
Chr19:10244918 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3069C>G (p.Gly1023=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001430566] Chr19:10143813 [GRCh38]
Chr19:10254489 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.867C>T (p.Asp289=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000877726] Chr19:10166622 [GRCh38]
Chr19:10277298 [GRCh37]
Chr19:19p13.2
likely benign|conflicting interpretations of pathogenicity
NM_001130823.3(DNMT1):c.4170G>A (p.Leu1390=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002065682] Chr19:10137955 [GRCh38]
Chr19:10248631 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1280+9A>T single nucleotide variant not provided [RCV000901788] Chr19:10159649 [GRCh38]
Chr19:10270325 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3807-10C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001490540] Chr19:10139827 [GRCh38]
Chr19:10250503 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3960C>T (p.Tyr1320=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000876706]|not provided [RCV001701461] Chr19:10138594 [GRCh38]
Chr19:10249270 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3594C>T (p.Pro1198=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001475545] Chr19:10140258 [GRCh38]
Chr19:10250934 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3021C>T (p.Tyr1007=) single nucleotide variant not provided [RCV000927794] Chr19:10143861 [GRCh38]
Chr19:10254537 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4590T>C (p.Tyr1530=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001434568] Chr19:10136187 [GRCh38]
Chr19:10246863 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4635C>T (p.Asn1545=) single nucleotide variant not provided [RCV000925398] Chr19:10136142 [GRCh38]
Chr19:10246818 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4077G>C (p.Val1359=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000950948] Chr19:10138477 [GRCh38]
Chr19:10249153 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.3141T>C (p.Thr1047=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001487970] Chr19:10142196 [GRCh38]
Chr19:10252872 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2117+9G>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001503153] Chr19:10151741 [GRCh38]
Chr19:10262417 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3459C>T (p.Pro1153=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001487539] Chr19:10140845 [GRCh38]
Chr19:10251521 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4657-7C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001464917] Chr19:10135859 [GRCh38]
Chr19:10246535 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2649G>C (p.Leu883=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001441226] Chr19:10148955 [GRCh38]
Chr19:10259631 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1777C>T (p.Leu593=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001427007] Chr19:10154641 [GRCh38]
Chr19:10265317 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2251G>A (p.Gly751Arg) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001058092] Chr19:10151412 [GRCh38]
Chr19:10262088 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.937C>T (p.Arg313Trp) single nucleotide variant Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002482025]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001058160] Chr19:10162738 [GRCh38]
Chr19:10273414 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1046C>T (p.Thr349Met) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001049391]|Inborn genetic diseases [RCV002379539] Chr19:10160061 [GRCh38]
Chr19:10270737 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2645A>G (p.Gln882Arg) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001041345] Chr19:10148959 [GRCh38]
Chr19:10259635 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2090G>A (p.Arg697Gln) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001047774] Chr19:10151777 [GRCh38]
Chr19:10262453 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3813C>T (p.Cys1271=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001058721]|not provided [RCV001699504] Chr19:10139811 [GRCh38]
Chr19:10250487 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.4173G>A (p.Pro1391=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001035374]|not provided [RCV002067717] Chr19:10137952 [GRCh38]
Chr19:10248628 [GRCh37]
Chr19:19p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001130823.3(DNMT1):c.3013G>A (p.Glu1005Lys) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001052291]|not provided [RCV001585951] Chr19:10143869 [GRCh38]
Chr19:10254545 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.946G>A (p.Glu316Lys) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001052304]|Inborn genetic diseases [RCV002374911] Chr19:10162729 [GRCh38]
Chr19:10273405 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.5C>T (p.Pro2Leu) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001039886] Chr19:10194895 [GRCh38]
Chr19:10305571 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.413C>G (p.Pro138Arg) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001054526] Chr19:10180382 [GRCh38]
Chr19:10291058 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2894+136_2894+137del deletion not provided [RCV000835840] Chr19:10146214..10146215 [GRCh38]
Chr19:10256890..10256891 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3576G>A (p.Ala1192=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000878385]|not provided [RCV003424429] Chr19:10140276 [GRCh38]
Chr19:10250952 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.66C>T (p.Asp22=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000933007] Chr19:10194834 [GRCh38]
Chr19:10305510 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4185T>C (p.Asn1395=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000980495] Chr19:10137940 [GRCh38]
Chr19:10248616 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4491C>T (p.Ala1497=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002539978] Chr19:10136286 [GRCh38]
Chr19:10246962 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4197A>C (p.Ala1399=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000943405] Chr19:10137928 [GRCh38]
Chr19:10248604 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4659C>T (p.Gly1553=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001393596] Chr19:10135850 [GRCh38]
Chr19:10246526 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.885C>T (p.Asp295=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000953809]|not provided [RCV003128731] Chr19:10166604 [GRCh38]
Chr19:10277280 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3949-9dup duplication Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001858597]|Inborn genetic diseases [RCV002354860]|not provided [RCV000966633] Chr19:10138609..10138610 [GRCh38]
Chr19:10249285..10249286 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1281-8C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001426548] Chr19:10156517 [GRCh38]
Chr19:10267193 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2700A>G (p.Pro900=) single nucleotide variant not provided [RCV000982726] Chr19:10148904 [GRCh38]
Chr19:10259580 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1812T>C (p.Ala604=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001499688] Chr19:10154606 [GRCh38]
Chr19:10265282 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3999C>T (p.Ala1333=) single nucleotide variant Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002502933]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001410822] Chr19:10138555 [GRCh38]
Chr19:10249231 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.694C>A (p.Pro232Thr) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001459175]|Inborn genetic diseases [RCV002354787]|not provided [RCV000932090] Chr19:10173164 [GRCh38]
Chr19:10283840 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.1920C>T (p.Val640=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000880367] Chr19:10154392 [GRCh38]
Chr19:10265068 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3098G>A (p.Arg1033Gln) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000952054] Chr19:10143784 [GRCh38]
Chr19:10254460 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4656+9G>A single nucleotide variant Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002495301]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000872963] Chr19:10136112 [GRCh38]
Chr19:10246788 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001130823.3(DNMT1):c.2385C>T (p.Val795=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001493135] Chr19:10149654 [GRCh38]
Chr19:10260330 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.649-62G>A single nucleotide variant not provided [RCV000833885] Chr19:10173967 [GRCh38]
Chr19:10284643 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.1492+30G>A single nucleotide variant not provided [RCV000833886] Chr19:10155823 [GRCh38]
Chr19:10266499 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.527A>G (p.Lys176Arg) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000804401]|Inborn genetic diseases [RCV002336631]|not provided [RCV002261219] Chr19:10177334 [GRCh38]
Chr19:10288010 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1051A>G (p.Lys351Glu) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000793586] Chr19:10160056 [GRCh38]
Chr19:10270732 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1520C>T (p.Pro507Leu) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000810355]|Inborn genetic diseases [RCV002390631] Chr19:10155029 [GRCh38]
Chr19:10265705 [GRCh37]
Chr19:19p13.2
pathogenic|likely pathogenic|uncertain significance
NM_001130823.3(DNMT1):c.4626C>T (p.Thr1542=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001498370]|not provided [RCV000828355] Chr19:10136151 [GRCh38]
Chr19:10246827 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3401G>A (p.Gly1134Asp) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000797054]|Inborn genetic diseases [RCV002325519] Chr19:10140903 [GRCh38]
Chr19:10251579 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1043C>T (p.Pro348Leu) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000798506]|Inborn genetic diseases [RCV002386411]|not provided [RCV001811489] Chr19:10160384 [GRCh38]
Chr19:10271060 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.2888C>T (p.Thr963Met) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000821647] Chr19:10146357 [GRCh38]
Chr19:10257033 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1066G>T (p.Ala356Ser) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000814609] Chr19:10160041 [GRCh38]
Chr19:10270717 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.898A>C (p.Lys300Gln) single nucleotide variant Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002507449]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000824549] Chr19:10163354 [GRCh38]
Chr19:10274030 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1645-1G>T single nucleotide variant Meningioma [RCV000786034] Chr19:10154774 [GRCh38]
Chr19:10265450 [GRCh37]
Chr19:19p13.2
likely pathogenic
NM_001130823.3(DNMT1):c.569+126C>T single nucleotide variant not provided [RCV000836547] Chr19:10177166 [GRCh38]
Chr19:10287842 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2586+45G>A single nucleotide variant not provided [RCV000838510] Chr19:10149408 [GRCh38]
Chr19:10260084 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.3310-133T>C single nucleotide variant not provided [RCV000838511] Chr19:10141322 [GRCh38]
Chr19:10251998 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.3117-288T>C single nucleotide variant not provided [RCV000840354] Chr19:10142508 [GRCh38]
Chr19:10253184 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.3458_3466dup (p.Pro1153_Leu1155dup) duplication Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001312272]|not provided [RCV000986202] Chr19:10140837..10140838 [GRCh38]
Chr19:10251513..10251514 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1196A>G (p.Asn399Ser) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000820190] Chr19:10159742 [GRCh38]
Chr19:10270418 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.451A>G (p.Arg151Gly) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000796039] Chr19:10180229 [GRCh38]
Chr19:10290905 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2836G>T (p.Gly946Cys) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000792206] Chr19:10146409 [GRCh38]
Chr19:10257085 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1642G>A (p.Glu548Lys) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000815436] Chr19:10154907 [GRCh38]
Chr19:10265583 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3116+327C>T single nucleotide variant not provided [RCV000827472] Chr19:10143439 [GRCh38]
Chr19:10254115 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.1520C>G (p.Pro507Arg) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789094]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003447166] Chr19:10155029 [GRCh38]
Chr19:10265705 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1706A>G (p.His569Arg) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789096]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002267741] Chr19:10154712 [GRCh38]
Chr19:10265388 [GRCh37]
Chr19:19p13.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001130823.3(DNMT1):c.3523+90C>G single nucleotide variant not provided [RCV000838512] Chr19:10140691 [GRCh38]
Chr19:10251367 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.4865-154G>A single nucleotide variant not provided [RCV000838513] Chr19:10133855 [GRCh38]
Chr19:10244531 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.649-197T>C single nucleotide variant not provided [RCV000838961] Chr19:10174102 [GRCh38]
Chr19:10284778 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.769-149A>G single nucleotide variant not provided [RCV000838962] Chr19:10168513 [GRCh38]
Chr19:10279189 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.3117-203A>C single nucleotide variant not provided [RCV000838965] Chr19:10142423 [GRCh38]
Chr19:10253099 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.3352C>T (p.His1118Tyr) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000797165] Chr19:10141147 [GRCh38]
Chr19:10251823 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.1559AGA[1] (p.Lys521del) microsatellite Charcot-Marie-Tooth disease [RCV000789095]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003447167] Chr19:10154985..10154987 [GRCh38]
Chr19:10265661..10265663 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2366C>T (p.Pro789Leu) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000807545] Chr19:10149868 [GRCh38]
Chr19:10260544 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.931G>T (p.Ala311Ser) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000804583] Chr19:10162744 [GRCh38]
Chr19:10273420 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1170+5G>C single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000794921] Chr19:10159837 [GRCh38]
Chr19:10270513 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1008+26C>T single nucleotide variant not provided [RCV000829629] Chr19:10162641 [GRCh38]
Chr19:10273317 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.692G>A (p.Arg231Lys) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000798612] Chr19:10173166 [GRCh38]
Chr19:10283842 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.3394+34T>C single nucleotide variant Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV001664449]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001664448]|not provided [RCV000829657] Chr19:10141071 [GRCh38]
Chr19:10251747 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.2020-289C>A single nucleotide variant not provided [RCV000827471] Chr19:10152136 [GRCh38]
Chr19:10262812 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.892-84G>A single nucleotide variant not provided [RCV000829656] Chr19:10163444 [GRCh38]
Chr19:10274120 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.1394T>C (p.Leu465Pro) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000795070] Chr19:10156396 [GRCh38]
Chr19:10267072 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.891+1G>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001066632] Chr19:10166597 [GRCh38]
Chr19:10277273 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3694G>A (p.Asp1232Asn) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001045753] Chr19:10140158 [GRCh38]
Chr19:10250834 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1987G>A (p.Ala663Thr) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000791672]|Inborn genetic diseases [RCV002406723]|not provided [RCV003156291] Chr19:10154325 [GRCh38]
Chr19:10265001 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.118-7C>G single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000824485] Chr19:10180892 [GRCh38]
Chr19:10291568 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2711A>T (p.Asn904Ile) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000818833] Chr19:10148893 [GRCh38]
Chr19:10259569 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.804-57C>T single nucleotide variant not provided [RCV000837362] Chr19:10166742 [GRCh38]
Chr19:10277418 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3116+3C>G single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000794377] Chr19:10143763 [GRCh38]
Chr19:10254439 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2721-45C>T single nucleotide variant Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV001664479]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001664478]|not provided [RCV000841155] Chr19:10146569 [GRCh38]
Chr19:10257245 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.1044-3del deletion Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001494019] Chr19:10160066 [GRCh38]
Chr19:10270742 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.650A>G (p.Asp217Gly) single nucleotide variant Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV000785085]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000785084] Chr19:10173904 [GRCh38]
Chr19:10284580 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3807-4A>G single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001399334] Chr19:10139821 [GRCh38]
Chr19:10250497 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3223C>T (p.Arg1075Cys) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000803853]|not provided [RCV003326496] Chr19:10142114 [GRCh38]
Chr19:10252790 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.1647C>T (p.Thr549=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000875406]|not provided [RCV001551625] Chr19:10154771 [GRCh38]
Chr19:10265447 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2211GAA[5] (p.Lys741dup) microsatellite Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000814498] Chr19:10151440..10151441 [GRCh38]
Chr19:10262116..10262117 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4372A>G (p.Ile1458Val) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001858843]|not provided [RCV000996734] Chr19:10137202 [GRCh38]
Chr19:10247878 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3394+4C>T single nucleotide variant Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002489692]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001065728]|Inborn genetic diseases [RCV002555846] Chr19:10141101 [GRCh38]
Chr19:10251777 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2433C>G (p.His811Gln) single nucleotide variant not provided [RCV000996736] Chr19:10149606 [GRCh38]
Chr19:10260282 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4507C>T (p.Pro1503Ser) single nucleotide variant not provided [RCV000996733] Chr19:10136270 [GRCh38]
Chr19:10246946 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1191G>A (p.Leu397=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001126996]|not provided [RCV000996737] Chr19:10159747 [GRCh38]
Chr19:10270423 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.374C>T (p.Ala125Val) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001067191] Chr19:10180421 [GRCh38]
Chr19:10291097 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1492+1G>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001064953] Chr19:10155852 [GRCh38]
Chr19:10266528 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1170+3A>G single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001247113] Chr19:10159839 [GRCh38]
Chr19:10270515 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.205C>T (p.Arg69Cys) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001219887] Chr19:10180798 [GRCh38]
Chr19:10291474 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3432C>T (p.Ser1144=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001225708] Chr19:10140872 [GRCh38]
Chr19:10251548 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.4000G>A (p.Ala1334Thr) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001220154]|not provided [RCV001288937] Chr19:10138554 [GRCh38]
Chr19:10249230 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3032G>A (p.Arg1011Gln) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001223758]|Inborn genetic diseases [RCV002436870] Chr19:10143850 [GRCh38]
Chr19:10254526 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3929G>C (p.Cys1310Ser) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001224261] Chr19:10139695 [GRCh38]
Chr19:10250371 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3536C>T (p.Thr1179Met) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001242856]|Inborn genetic diseases [RCV002451590]|not provided [RCV003145471] Chr19:10140316 [GRCh38]
Chr19:10250992 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1678C>T (p.Arg560Cys) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001224893]|Inborn genetic diseases [RCV002402704]|not provided [RCV003129740] Chr19:10154740 [GRCh38]
Chr19:10265416 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.3595G>A (p.Gly1199Ser) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001237929]|not provided [RCV001539913] Chr19:10140257 [GRCh38]
Chr19:10250933 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4236C>G (p.Phe1412Leu) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001235465]|not provided [RCV003322870] Chr19:10137889 [GRCh38]
Chr19:10248565 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3785C>G (p.Ser1262Cys) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001238465] Chr19:10140067 [GRCh38]
Chr19:10250743 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3913C>T (p.Arg1305Cys) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001238466] Chr19:10139711 [GRCh38]
Chr19:10250387 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.2627G>A (p.Gly876Glu) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001241666] Chr19:10148977 [GRCh38]
Chr19:10259653 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.662G>A (p.Arg221His) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001221799] Chr19:10173892 [GRCh38]
Chr19:10284568 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2686C>T (p.Pro896Ser) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001224715] Chr19:10148918 [GRCh38]
Chr19:10259594 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4298T>C (p.Met1433Thr) single nucleotide variant Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV000995755] Chr19:10137276 [GRCh38]
Chr19:10247952 [GRCh37]
Chr19:19p13.2
likely pathogenic
NM_001130823.3(DNMT1):c.1842G>A (p.Gln614=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001124340] Chr19:10154470 [GRCh38]
Chr19:10265146 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3036C>G (p.Ile1012Met) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001127316]|Inborn genetic diseases [RCV002436715] Chr19:10143846 [GRCh38]
Chr19:10254522 [GRCh37]
Chr19:19p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001130823.3(DNMT1):c.2920C>T (p.Arg974Cys) single nucleotide variant Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV001197061]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001859188] Chr19:10143962 [GRCh38]
Chr19:10254638 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1534G>T (p.Ala512Ser) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001043395]|Inborn genetic diseases [RCV002393216]|not provided [RCV001556142] Chr19:10155015 [GRCh38]
Chr19:10265691 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.4164C>T (p.Ser1388=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001123140] Chr19:10137961 [GRCh38]
Chr19:10248637 [GRCh37]
Chr19:19p13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_001130823.3(DNMT1):c.886G>A (p.Glu296Lys) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001123343]|Inborn genetic diseases [RCV002436714] Chr19:10166603 [GRCh38]
Chr19:10277279 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.*211G>C single nucleotide variant Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002480504]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001126803] Chr19:10133456 [GRCh38]
Chr19:10244132 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.151G>A (p.Glu51Lys) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001247929]|not provided [RCV001507411] Chr19:10180852 [GRCh38]
Chr19:10291528 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NC_000019.9:g.(?_10244343)_(10251024_?)dup duplication Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003105485] Chr19:10244343..10251024 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2895-310T>A single nucleotide variant not provided [RCV001549685] Chr19:10144297 [GRCh38]
Chr19:10254973 [GRCh37]
Chr19:19p13.2
likely benign
NC_000019.10:g.10195137C>T single nucleotide variant not provided [RCV001571498] Chr19:10195137 [GRCh38]
Chr19:10305813 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3116+208G>A single nucleotide variant not provided [RCV001581453] Chr19:10143558 [GRCh38]
Chr19:10254234 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4657-69C>G single nucleotide variant not provided [RCV001572294] Chr19:10135921 [GRCh38]
Chr19:10246597 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1281-234C>T single nucleotide variant not provided [RCV001565530] Chr19:10156743 [GRCh38]
Chr19:10267419 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.803+283G>A single nucleotide variant not provided [RCV001577569] Chr19:10168047 [GRCh38]
Chr19:10278723 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.769-21T>G single nucleotide variant not provided [RCV001578005] Chr19:10168385 [GRCh38]
Chr19:10279061 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1009-246C>A single nucleotide variant not provided [RCV001553359] Chr19:10160664 [GRCh38]
Chr19:10271340 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4116-204C>T single nucleotide variant not provided [RCV001612372] Chr19:10138213 [GRCh38]
Chr19:10248889 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.2011G>A (p.Val671Ile) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002568921]|Inborn genetic diseases [RCV002421180]|not provided [RCV001534782] Chr19:10154301 [GRCh38]
Chr19:10264977 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.570-214G>A single nucleotide variant not provided [RCV001561496] Chr19:10175832 [GRCh38]
Chr19:10286508 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4293+236T>G single nucleotide variant not provided [RCV001561729] Chr19:10137596 [GRCh38]
Chr19:10248272 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1008+43_1008+46del deletion not provided [RCV001589530] Chr19:10162621..10162624 [GRCh38]
Chr19:10273297..10273300 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.493+170T>C single nucleotide variant not provided [RCV001656029] Chr19:10180017 [GRCh38]
Chr19:10290693 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.1008+22C>T single nucleotide variant not provided [RCV001615754] Chr19:10162645 [GRCh38]
Chr19:10273321 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.569+217A>G single nucleotide variant not provided [RCV001577703] Chr19:10177075 [GRCh38]
Chr19:10287751 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1009-247G>A single nucleotide variant not provided [RCV001557659] Chr19:10160665 [GRCh38]
Chr19:10271341 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2265+5C>A single nucleotide variant not provided [RCV001557840] Chr19:10151393 [GRCh38]
Chr19:10262069 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4773+97C>A single nucleotide variant not provided [RCV001558170] Chr19:10135639 [GRCh38]
Chr19:10246315 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001130823.3(DNMT1):c.1281-38G>A single nucleotide variant not provided [RCV001563204] Chr19:10156547 [GRCh38]
Chr19:10267223 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.81-148G>A single nucleotide variant not provided [RCV001650300] Chr19:10182225 [GRCh38]
Chr19:10292901 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.984T>A (p.Ser328=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001434619] Chr19:10162691 [GRCh38]
Chr19:10273367 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4032G>C (p.Pro1344=) single nucleotide variant not provided [RCV000910609] Chr19:10138522 [GRCh38]
Chr19:10249198 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.494-10_494-8del microsatellite not provided [RCV000909924] Chr19:10177375..10177377 [GRCh38]
Chr19:10288051..10288053 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4392C>T (p.Asp1464=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001416178] Chr19:10137182 [GRCh38]
Chr19:10247858 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3669C>T (p.Arg1223=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000878731]|not provided [RCV003424433] Chr19:10140183 [GRCh38]
Chr19:10250859 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_001130823.3(DNMT1):c.649-5C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000936412] Chr19:10173910 [GRCh38]
Chr19:10284586 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1171-7C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001127419] Chr19:10159774 [GRCh38]
Chr19:10270450 [GRCh37]
Chr19:19p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001130823.3(DNMT1):c.1458T>C (p.Asp486=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001456397] Chr19:10155887 [GRCh38]
Chr19:10266563 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.957A>G (p.Glu319=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001458283] Chr19:10162718 [GRCh38]
Chr19:10273394 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.204A>G (p.Leu68=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001435438] Chr19:10180799 [GRCh38]
Chr19:10291475 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.445+10G>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000917828] Chr19:10180340 [GRCh38]
Chr19:10291016 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1493-293dup duplication not provided [RCV001537376] Chr19:10155337..10155338 [GRCh38]
Chr19:10266013..10266014 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.3294C>G (p.Arg1098=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001126903]|not provided [RCV002274140] Chr19:10142043 [GRCh38]
Chr19:10252719 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.548T>C (p.Ile183Thr) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001226465] Chr19:10177313 [GRCh38]
Chr19:10287989 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.*29G>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001127207] Chr19:10133638 [GRCh38]
Chr19:10244314 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1096C>A (p.Pro366Thr) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001222678] Chr19:10159916 [GRCh38]
Chr19:10270592 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1400-4del deletion Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001227004] Chr19:10155949 [GRCh38]
Chr19:10266625 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.4414C>T (p.Arg1472Trp) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001244852]|not provided [RCV003426012] Chr19:10137160 [GRCh38]
Chr19:10247836 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.-26C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001127545] Chr19:10194925 [GRCh38]
Chr19:10305601 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1195A>G (p.Asn399Asp) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001201943] Chr19:10159743 [GRCh38]
Chr19:10270419 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4426C>A (p.His1476Asn) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001232201] Chr19:10137148 [GRCh38]
Chr19:10247824 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4493G>T (p.Gly1498Val) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001205623]|Inborn genetic diseases [RCV002327470] Chr19:10136284 [GRCh38]
Chr19:10246960 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.97A>G (p.Arg33Gly) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001236858] Chr19:10182061 [GRCh38]
Chr19:10292737 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2471C>T (p.Thr824Met) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001243804]|Inborn genetic diseases [RCV002447206]|not specified [RCV003399004] Chr19:10149568 [GRCh38]
Chr19:10260244 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2586G>A (p.Glu862=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001066279] Chr19:10149453 [GRCh38]
Chr19:10260129 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4074C>T (p.Ser1358=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001124224] Chr19:10138480 [GRCh38]
Chr19:10249156 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.470C>T (p.Ala157Val) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001209185] Chr19:10180210 [GRCh38]
Chr19:10290886 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.229G>C (p.Gly77Arg) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001224274] Chr19:10180566 [GRCh38]
Chr19:10291242 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.3097C>T (p.Arg1033Trp) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001224301] Chr19:10143785 [GRCh38]
Chr19:10254461 [GRCh37]
Chr19:19p13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_001130823.3(DNMT1):c.3085G>C (p.Asp1029His) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001217528] Chr19:10143797 [GRCh38]
Chr19:10254473 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1100C>T (p.Pro367Leu) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001244005] Chr19:10159912 [GRCh38]
Chr19:10270588 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.148C>T (p.His50Tyr) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001068228] Chr19:10180855 [GRCh38]
Chr19:10291531 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3365C>G (p.Pro1122Arg) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001228144] Chr19:10141134 [GRCh38]
Chr19:10251810 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.445C>T (p.Arg149Cys) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001228148] Chr19:10180350 [GRCh38]
Chr19:10291026 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.891+9G>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001398810] Chr19:10166589 [GRCh38]
Chr19:10277265 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.225+9G>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000933751] Chr19:10180769 [GRCh38]
Chr19:10291445 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2478C>T (p.Asp826=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002068681] Chr19:10149561 [GRCh38]
Chr19:10260237 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3647C>G (p.Ala1216Gly) single nucleotide variant not provided [RCV000911747] Chr19:10140205 [GRCh38]
Chr19:10250881 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2451A>G (p.Thr817=) single nucleotide variant not provided [RCV000933935] Chr19:10149588 [GRCh38]
Chr19:10260264 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3261C>T (p.Cys1087=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000890869]|not provided [RCV001766791] Chr19:10142076 [GRCh38]
Chr19:10252752 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.2709C>T (p.Asp903=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000890870] Chr19:10148895 [GRCh38]
Chr19:10259571 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4539C>T (p.Pro1513=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001480519] Chr19:10136238 [GRCh38]
Chr19:10246914 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1619A>G (p.Tyr540Cys) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002267743]|not provided [RCV000986203] Chr19:10154930 [GRCh38]
Chr19:10265606 [GRCh37]
Chr19:19p13.2
pathogenic|likely pathogenic
NM_001130823.3(DNMT1):c.3099G>A (p.Arg1033=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001438151] Chr19:10143783 [GRCh38]
Chr19:10254459 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4056C>T (p.Pro1352=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV000890714] Chr19:10138498 [GRCh38]
Chr19:10249174 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3949-149G>A single nucleotide variant not provided [RCV001574748] Chr19:10138754 [GRCh38]
Chr19:10249430 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2266-240A>G single nucleotide variant not provided [RCV001559475] Chr19:10150208 [GRCh38]
Chr19:10260884 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.649-263T>G single nucleotide variant not provided [RCV001593990] Chr19:10174168 [GRCh38]
Chr19:10284844 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.683+86G>A single nucleotide variant not provided [RCV001649242] Chr19:10173785 [GRCh38]
Chr19:10284461 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.683+132T>C single nucleotide variant not provided [RCV001718117] Chr19:10173739 [GRCh38]
Chr19:10284415 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.4657-57C>T single nucleotide variant not provided [RCV001550648] Chr19:10135909 [GRCh38]
Chr19:10246585 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.225+102TGA[9] microsatellite not provided [RCV001574329] Chr19:10180647..10180649 [GRCh38]
Chr19:10291323..10291325 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2151C>T (p.Asp717=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003106736] Chr19:10151512 [GRCh38]
Chr19:10262188 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1492+3_1492+6del deletion not specified [RCV002470012] Chr19:10155847..10155850 [GRCh38]
Chr19:10266523..10266526 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.494-4A>G single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002571421]|not provided [RCV002467353] Chr19:10177371 [GRCh38]
Chr19:10288047 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2721-212A>G single nucleotide variant not provided [RCV001649933] Chr19:10146736 [GRCh38]
Chr19:10257412 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.493+180del deletion not provided [RCV001530908] Chr19:10180007 [GRCh38]
Chr19:10290683 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.684-82G>A single nucleotide variant not provided [RCV001620764] Chr19:10173256 [GRCh38]
Chr19:10283932 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.4293+238C>G single nucleotide variant not provided [RCV001717318] Chr19:10137594 [GRCh38]
Chr19:10248270 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.2586+122del deletion not provided [RCV001717319] Chr19:10149331 [GRCh38]
Chr19:10260007 [GRCh37]
Chr19:19p13.2
benign
NC_000019.10:g.10195128dup duplication not provided [RCV001659643] Chr19:10195120..10195121 [GRCh38]
Chr19:10305796..10305797 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.225+102TGA[11] microsatellite not provided [RCV001717552] Chr19:10180646..10180647 [GRCh38]
Chr19:10291322..10291323 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.80+214C>T single nucleotide variant not provided [RCV001717586] Chr19:10194606 [GRCh38]
Chr19:10305282 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.3309+131C>T single nucleotide variant not provided [RCV001549505] Chr19:10141897 [GRCh38]
Chr19:10252573 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4490-306C>T single nucleotide variant not provided [RCV001686647] Chr19:10136593 [GRCh38]
Chr19:10247269 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.1281-81G>T single nucleotide variant not provided [RCV001686429] Chr19:10156590 [GRCh38]
Chr19:10267266 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.2288A>T (p.Tyr763Phe) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001245981] Chr19:10149946 [GRCh38]
Chr19:10260622 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.*287T>C single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001126801] Chr19:10133380 [GRCh38]
Chr19:10244056 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.*253G>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001126802] Chr19:10133414 [GRCh38]
Chr19:10244090 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3537G>A (p.Thr1179=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001126902] Chr19:10140315 [GRCh38]
Chr19:10250991 [GRCh37]
Chr19:19p13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_001130823.3(DNMT1):c.3116+11G>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001127315] Chr19:10143755 [GRCh38]
Chr19:10254431 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3567G>A (p.Ala1189=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001126901] Chr19:10140285 [GRCh38]
Chr19:10250961 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1149T>C (p.Tyr383=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001127420]|not provided [RCV001311157] Chr19:10159863 [GRCh38]
Chr19:10270539 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.720A>G (p.Arg240=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001123344] Chr19:10173138 [GRCh38]
Chr19:10283814 [GRCh37]
Chr19:19p13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_001130823.3(DNMT1):c.4849C>T (p.Arg1617Ter) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001228730] Chr19:10134232 [GRCh38]
Chr19:10244908 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4864+112C>T single nucleotide variant not provided [RCV001669045] Chr19:10134105 [GRCh38]
Chr19:10244781 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.1009-47T>G single nucleotide variant not provided [RCV001611042] Chr19:10160465 [GRCh38]
Chr19:10271141 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.2152G>A (p.Asp718Asn) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001035399] Chr19:10151511 [GRCh38]
Chr19:10262187 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.81-271G>C single nucleotide variant not provided [RCV001616249] Chr19:10182348 [GRCh38]
Chr19:10293024 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.4636C>T (p.Pro1546Ser) single nucleotide variant Spastic ataxia [RCV001647249] Chr19:10136141 [GRCh38]
Chr19:10246817 [GRCh37]
Chr19:19p13.2
likely pathogenic
NM_001130823.3(DNMT1):c.1009-217G>A single nucleotide variant not provided [RCV001564812] Chr19:10160635 [GRCh38]
Chr19:10271311 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2118-26_2118-21del deletion not provided [RCV001539118] Chr19:10151566..10151571 [GRCh38]
Chr19:10262242..10262247 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3117-182G>C single nucleotide variant not provided [RCV001566293] Chr19:10142402 [GRCh38]
Chr19:10253078 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.768+238TATTT[5] microsatellite not provided [RCV001588183] Chr19:10172832..10172833 [GRCh38]
Chr19:10283508..10283509 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3948+220G>A single nucleotide variant not provided [RCV001547326] Chr19:10139456 [GRCh38]
Chr19:10250132 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.493+180C>T single nucleotide variant not provided [RCV001612843] Chr19:10180007 [GRCh38]
Chr19:10290683 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.225+102TGA[12] microsatellite not provided [RCV001725593] Chr19:10180646..10180647 [GRCh38]
Chr19:10291322..10291323 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.648+29_648+30del microsatellite not provided [RCV001547919] Chr19:10175510..10175511 [GRCh38]
Chr19:10286186..10286187 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.357A>C (p.Arg119Ser) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001056097]|Inborn genetic diseases [RCV002460128]|not provided [RCV003145309] Chr19:10180438 [GRCh38]
Chr19:10291114 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.1063C>T (p.Arg355Cys) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001206546] Chr19:10160044 [GRCh38]
Chr19:10270720 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2309C>T (p.Ala770Val) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001204127] Chr19:10149925 [GRCh38]
Chr19:10260601 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3277A>T (p.Met1093Leu) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001220378] Chr19:10142060 [GRCh38]
Chr19:10252736 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.410C>G (p.Thr137Arg) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001220382]|Inborn genetic diseases [RCV002322064] Chr19:10180385 [GRCh38]
Chr19:10291061 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.614C>G (p.Ser205Trp) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001057101] Chr19:10175574 [GRCh38]
Chr19:10286250 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3067G>A (p.Gly1023Ser) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001206542] Chr19:10143815 [GRCh38]
Chr19:10254491 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2100G>A (p.Gln700=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001123236] Chr19:10151767 [GRCh38]
Chr19:10262443 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2092A>T (p.Ser698Cys) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001208186]|Inborn genetic diseases [RCV002416287]|not specified [RCV001000335] Chr19:10151775 [GRCh38]
Chr19:10262451 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1051A>C (p.Lys351Gln) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001236007] Chr19:10160056 [GRCh38]
Chr19:10270732 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.206G>T (p.Arg69Leu) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001058476] Chr19:10180797 [GRCh38]
Chr19:10291473 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.355A>G (p.Arg119Gly) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001214584]|Inborn genetic diseases [RCV002339561]|not specified [RCV001815026] Chr19:10180440 [GRCh38]
Chr19:10291116 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3146C>T (p.Ala1049Val) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001248092] Chr19:10142191 [GRCh38]
Chr19:10252867 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4424A>G (p.His1475Arg) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001058951] Chr19:10137150 [GRCh38]
Chr19:10247826 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3937G>A (p.Gly1313Ser) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001202246] Chr19:10139687 [GRCh38]
Chr19:10250363 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.163A>G (p.Thr55Ala) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001230908] Chr19:10180840 [GRCh38]
Chr19:10291516 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.3184G>C (p.Asp1062His) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001215432] Chr19:10142153 [GRCh38]
Chr19:10252829 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.1156C>T (p.His386Tyr) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001219553] Chr19:10159856 [GRCh38]
Chr19:10270532 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3278T>C (p.Met1093Thr) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001202334] Chr19:10142059 [GRCh38]
Chr19:10252735 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3659C>T (p.Thr1220Ile) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001202786]|Inborn genetic diseases [RCV002451418] Chr19:10140193 [GRCh38]
Chr19:10250869 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1399+6G>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001053977] Chr19:10156385 [GRCh38]
Chr19:10267061 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1750G>A (p.Gly584Arg) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001049584] Chr19:10154668 [GRCh38]
Chr19:10265344 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.*34A>C single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001127206] Chr19:10133633 [GRCh38]
Chr19:10244309 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3117-4G>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001127314]|Inborn genetic diseases [RCV002445392] Chr19:10142224 [GRCh38]
Chr19:10252900 [GRCh37]
Chr19:19p13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_001130823.3(DNMT1):c.3580C>T (p.Arg1194Trp) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001124225]|Inborn genetic diseases [RCV002339411] Chr19:10140272 [GRCh38]
Chr19:10250948 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1492+6T>C single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001055532] Chr19:10155847 [GRCh38]
Chr19:10266523 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3167A>G (p.Asn1056Ser) single nucleotide variant Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002497425]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001055539] Chr19:10142170 [GRCh38]
Chr19:10252846 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3210G>A (p.Lys1070=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001051446] Chr19:10142127 [GRCh38]
Chr19:10252803 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.3456G>C (p.Leu1152=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001407768]|not specified [RCV001002627] Chr19:10140848 [GRCh38]
Chr19:10251524 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.637_639del (p.Asp213del) deletion Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001233705] Chr19:10175549..10175551 [GRCh38]
Chr19:10286225..10286227 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3534C>A (p.Asp1178Glu) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001052177] Chr19:10140318 [GRCh38]
Chr19:10250994 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3714C>T (p.Gly1238=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001062925] Chr19:10140138 [GRCh38]
Chr19:10250814 [GRCh37]
Chr19:19p13.2
benign|uncertain significance
NM_001130823.3(DNMT1):c.855C>T (p.Gly285=) single nucleotide variant Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002479346]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001056754]|not provided [RCV001593228] Chr19:10166634 [GRCh38]
Chr19:10277310 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.3042G>C (p.Glu1014Asp) single nucleotide variant Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV001197857] Chr19:10143840 [GRCh38]
Chr19:10254516 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1708G>A (p.Ala570Thr) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001063462] Chr19:10154710 [GRCh38]
Chr19:10265386 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1823T>G (p.Leu608Arg) single nucleotide variant Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV001254069] Chr19:10154595 [GRCh38]
Chr19:10265271 [GRCh37]
Chr19:19p13.2
likely pathogenic
NM_001130823.3(DNMT1):c.3524-45del deletion not provided [RCV001641970] Chr19:10140373 [GRCh38]
Chr19:10251049 [GRCh37]
Chr19:19p13.2
benign
NC_000019.10:g.10195126_10195128dup duplication not provided [RCV001580857] Chr19:10195120..10195121 [GRCh38]
Chr19:10305796..10305797 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1028C>T (p.Thr343Met) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001302469] Chr19:10160399 [GRCh38]
Chr19:10271075 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4630A>G (p.Thr1544Ala) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001303819] Chr19:10136147 [GRCh38]
Chr19:10246823 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.569+131G>A single nucleotide variant not provided [RCV001765987] Chr19:10177161 [GRCh38]
Chr19:10287837 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2858A>G (p.Asp953Gly) single nucleotide variant Pituitary stalk interruption syndrome [RCV001257292] Chr19:10146387 [GRCh38]
Chr19:10257063 [GRCh37]
Chr19:19p13.2
likely pathogenic
NM_001130823.3(DNMT1):c.929C>T (p.Ala310Val) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001319540] Chr19:10162746 [GRCh38]
Chr19:10273422 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4402G>T (p.Ala1468Ser) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001307012] Chr19:10137172 [GRCh38]
Chr19:10247848 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3395G>C (p.Gly1132Ala) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001295397] Chr19:10140909 [GRCh38]
Chr19:10251585 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4393G>A (p.Gly1465Ser) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001871639]|not provided [RCV001281565] Chr19:10137181 [GRCh38]
Chr19:10247857 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3166A>T (p.Asn1056Tyr) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001302021] Chr19:10142171 [GRCh38]
Chr19:10252847 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.445C>A (p.Arg149Ser) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001315430]|Inborn genetic diseases [RCV003365323] Chr19:10180350 [GRCh38]
Chr19:10291026 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.487A>G (p.Ile163Val) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001318462] Chr19:10180193 [GRCh38]
Chr19:10290869 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.794C>T (p.Thr265Ile) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001348991] Chr19:10168339 [GRCh38]
Chr19:10279015 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2801A>G (p.Asp934Gly) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001319271] Chr19:10146444 [GRCh38]
Chr19:10257120 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2261T>G (p.Val754Gly) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001325233] Chr19:10151402 [GRCh38]
Chr19:10262078 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3117-5C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001432982]|Inborn genetic diseases [RCV002449172] Chr19:10142225 [GRCh38]
Chr19:10252901 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.873C>T (p.Asp291=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001413209] Chr19:10166616 [GRCh38]
Chr19:10277292 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.684-5G>C single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001395395] Chr19:10173179 [GRCh38]
Chr19:10283855 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1230T>C (p.Ser410=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001433451] Chr19:10159708 [GRCh38]
Chr19:10270384 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1703G>A (p.Arg568Gln) single nucleotide variant not provided [RCV001354588] Chr19:10154715 [GRCh38]
Chr19:10265391 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3888G>A (p.Leu1296=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001421344] Chr19:10139736 [GRCh38]
Chr19:10250412 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1090-9C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001413503] Chr19:10159931 [GRCh38]
Chr19:10270607 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4857T>G (p.Ser1619Arg) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001370254] Chr19:10134224 [GRCh38]
Chr19:10244900 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.172A>C (p.Lys58Gln) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001371406] Chr19:10180831 [GRCh38]
Chr19:10291507 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2950C>G (p.Leu984Val) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001360618] Chr19:10143932 [GRCh38]
Chr19:10254608 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3358C>T (p.Arg1120Cys) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001313235] Chr19:10141141 [GRCh38]
Chr19:10251817 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4208_4210del (p.Ser1403del) deletion Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001321410] Chr19:10137915..10137917 [GRCh38]
Chr19:10248591..10248593 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4184A>G (p.Asn1395Ser) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001346402] Chr19:10137941 [GRCh38]
Chr19:10248617 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.980T>A (p.Ile327Asn) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001373543] Chr19:10162695 [GRCh38]
Chr19:10273371 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4733C>G (p.Thr1578Ser) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001312262] Chr19:10135776 [GRCh38]
Chr19:10246452 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.762T>A (p.Asp254Glu) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001323846] Chr19:10173096 [GRCh38]
Chr19:10283772 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1280G>A (p.Ser427Asn) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001312390] Chr19:10159658 [GRCh38]
Chr19:10270334 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4492G>A (p.Gly1498Ser) single nucleotide variant Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV001336230]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002546769] Chr19:10136285 [GRCh38]
Chr19:10246961 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3677G>A (p.Arg1226Gln) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001323078]|Inborn genetic diseases [RCV002460144] Chr19:10140175 [GRCh38]
Chr19:10250851 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.175A>G (p.Asn59Asp) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001346906] Chr19:10180828 [GRCh38]
Chr19:10291504 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1757G>C (p.Ser586Thr) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001349527] Chr19:10154661 [GRCh38]
Chr19:10265337 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4112C>A (p.Thr1371Asn) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001341304] Chr19:10138442 [GRCh38]
Chr19:10249118 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.997G>A (p.Glu333Lys) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001322444]|not provided [RCV003106192] Chr19:10162678 [GRCh38]
Chr19:10273354 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3452A>G (p.Lys1151Arg) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001345367] Chr19:10140852 [GRCh38]
Chr19:10251528 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3207C>G (p.Phe1069Leu) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001345514] Chr19:10142130 [GRCh38]
Chr19:10252806 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4460C>T (p.Ala1487Val) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001306207] Chr19:10137114 [GRCh38]
Chr19:10247790 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.353G>T (p.Arg118Leu) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001323725] Chr19:10180442 [GRCh38]
Chr19:10291118 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1399+5G>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001363950] Chr19:10156386 [GRCh38]
Chr19:10267062 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.910A>C (p.Ser304Arg) single nucleotide variant Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002493577]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001299216] Chr19:10163342 [GRCh38]
Chr19:10274018 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1008G>A (p.Lys336=) single nucleotide variant Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002476693]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001370813]|Inborn genetic diseases [RCV002377550] Chr19:10162667 [GRCh38]
Chr19:10273343 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4061C>T (p.Ala1354Val) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001366226]|Inborn genetic diseases [RCV002377537] Chr19:10138493 [GRCh38]
Chr19:10249169 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.3755A>G (p.Asn1252Ser) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001299757] Chr19:10140097 [GRCh38]
Chr19:10250773 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3428C>T (p.Pro1143Leu) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001325099] Chr19:10140876 [GRCh38]
Chr19:10251552 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.1167C>T (p.Asp389=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001394846]|not provided [RCV003426067] Chr19:10159845 [GRCh38]
Chr19:10270521 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3056A>G (p.Lys1019Arg) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001307037] Chr19:10143826 [GRCh38]
Chr19:10254502 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.743A>G (p.Glu248Gly) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001360663] Chr19:10173115 [GRCh38]
Chr19:10283791 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4045G>A (p.Val1349Met) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001371863]|Inborn genetic diseases [RCV002377554] Chr19:10138509 [GRCh38]
Chr19:10249185 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3395-7C>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001372144] Chr19:10140916 [GRCh38]
Chr19:10251592 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.769-4T>G single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001308303]|Inborn genetic diseases [RCV002375387] Chr19:10168368 [GRCh38]
Chr19:10279044 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.332A>G (p.Asn111Ser) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001370589] Chr19:10180463 [GRCh38]
Chr19:10291139 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.4272C>A (p.Ile1424=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001394002] Chr19:10137853 [GRCh38]
Chr19:10248529 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.768+7C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001475068] Chr19:10173083 [GRCh38]
Chr19:10283759 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2481T>C (p.Pro827=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001450824] Chr19:10149558 [GRCh38]
Chr19:10260234 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1281-4C>G single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001506076] Chr19:10156513 [GRCh38]
Chr19:10267189 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1527C>T (p.Pro509=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001484378] Chr19:10155022 [GRCh38]
Chr19:10265698 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4490-1G>C single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001385365] Chr19:10136288 [GRCh38]
Chr19:10246964 [GRCh37]
Chr19:19p13.2
pathogenic
NM_001130823.3(DNMT1):c.3523+10C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001425571] Chr19:10140771 [GRCh38]
Chr19:10251447 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2922C>G (p.Arg974=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001502580] Chr19:10143960 [GRCh38]
Chr19:10254636 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3138C>T (p.Ser1046=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001491211] Chr19:10142199 [GRCh38]
Chr19:10252875 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1617C>T (p.Thr539=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001439675] Chr19:10154932 [GRCh38]
Chr19:10265608 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2601C>T (p.Pro867=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001470085]|not provided [RCV001597277] Chr19:10149003 [GRCh38]
Chr19:10259679 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.219A>G (p.Leu73=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001415870] Chr19:10180784 [GRCh38]
Chr19:10291460 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4089C>T (p.Asp1363=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001463400] Chr19:10138465 [GRCh38]
Chr19:10249141 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2427C>T (p.His809=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001501485] Chr19:10149612 [GRCh38]
Chr19:10260288 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1512G>T (p.Leu504=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001456251] Chr19:10155037 [GRCh38]
Chr19:10265713 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1089+7A>C single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001464211] Chr19:10160011 [GRCh38]
Chr19:10270687 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2193C>T (p.Pro731=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001470906] Chr19:10151470 [GRCh38]
Chr19:10262146 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.702T>C (p.Pro234=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001493466] Chr19:10173156 [GRCh38]
Chr19:10283832 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1473C>T (p.Ala491=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001435095] Chr19:10155872 [GRCh38]
Chr19:10266548 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3285C>A (p.Gly1095=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001493695] Chr19:10142052 [GRCh38]
Chr19:10252728 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2832G>A (p.Lys944=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001502078] Chr19:10146413 [GRCh38]
Chr19:10257089 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1272C>A (p.Thr424=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001435248] Chr19:10159666 [GRCh38]
Chr19:10270342 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1170+10G>C single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001412149] Chr19:10159832 [GRCh38]
Chr19:10270508 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2250C>T (p.Val750=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001443947] Chr19:10151413 [GRCh38]
Chr19:10262089 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2736T>C (p.Cys912=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001441426] Chr19:10146509 [GRCh38]
Chr19:10257185 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4044C>T (p.His1348=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001399362] Chr19:10138510 [GRCh38]
Chr19:10249186 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1400-7G>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001428969] Chr19:10155952 [GRCh38]
Chr19:10266628 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2568C>T (p.Ser856=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001438998] Chr19:10149471 [GRCh38]
Chr19:10260147 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.226-4G>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001444216] Chr19:10180573 [GRCh38]
Chr19:10291249 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3282C>T (p.Gly1094=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001439904] Chr19:10142055 [GRCh38]
Chr19:10252731 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.226-6C>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001415750] Chr19:10180575 [GRCh38]
Chr19:10291251 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4557C>T (p.Thr1519=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001418922] Chr19:10136220 [GRCh38]
Chr19:10246896 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2298G>T (p.Val766=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001410564] Chr19:10149936 [GRCh38]
Chr19:10260612 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4779C>A (p.Gly1593=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001401448] Chr19:10134302 [GRCh38]
Chr19:10244978 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4695C>T (p.Ser1565=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001437785] Chr19:10135814 [GRCh38]
Chr19:10246490 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1619A>C (p.Tyr540Ser) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001378601] Chr19:10154930 [GRCh38]
Chr19:10265606 [GRCh37]
Chr19:19p13.2
likely pathogenic
NM_001130823.3(DNMT1):c.1644+10C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001431815] Chr19:10154895 [GRCh38]
Chr19:10265571 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2205C>T (p.His735=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001442659] Chr19:10151458 [GRCh38]
Chr19:10262134 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2388G>A (p.Thr796=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001411263] Chr19:10149651 [GRCh38]
Chr19:10260327 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3147G>A (p.Ala1049=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001440446] Chr19:10142190 [GRCh38]
Chr19:10252866 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1614G>A (p.Ser538=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001445826] Chr19:10154935 [GRCh38]
Chr19:10265611 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3711C>T (p.Cys1237=) single nucleotide variant Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002495582]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001426035]|not provided [RCV002264311] Chr19:10140141 [GRCh38]
Chr19:10250817 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2445T>C (p.Ala815=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001402008] Chr19:10149594 [GRCh38]
Chr19:10260270 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4692G>T (p.Val1564=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001481879] Chr19:10135817 [GRCh38]
Chr19:10246493 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1530G>A (p.Glu510=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001481880] Chr19:10155019 [GRCh38]
Chr19:10265695 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1008+44_1008+46del deletion not provided [RCV001541174] Chr19:10162621..10162623 [GRCh38]
Chr19:10273297..10273299 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.27G>A (p.Arg9=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001490495] Chr19:10194873 [GRCh38]
Chr19:10305549 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3157G>A (p.Ala1053Thr) single nucleotide variant Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002488445]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002538540]|not provided [RCV001653092] Chr19:10142180 [GRCh38]
Chr19:10252856 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1272C>T (p.Thr424=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001499500] Chr19:10159666 [GRCh38]
Chr19:10270342 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3738C>T (p.Ser1246=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001462133] Chr19:10140114 [GRCh38]
Chr19:10250790 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.333C>T (p.Asn111=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001461971] Chr19:10180462 [GRCh38]
Chr19:10291138 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1008+18C>T single nucleotide variant not provided [RCV001684677] Chr19:10162649 [GRCh38]
Chr19:10273325 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.1399+56G>T single nucleotide variant not provided [RCV001655471] Chr19:10156335 [GRCh38]
Chr19:10267011 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.1281-67C>A single nucleotide variant not provided [RCV001717316] Chr19:10156576 [GRCh38]
Chr19:10267252 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.3657C>T (p.Thr1219=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001486687] Chr19:10140195 [GRCh38]
Chr19:10250871 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1329C>T (p.Ile443=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001474140] Chr19:10156461 [GRCh38]
Chr19:10267137 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.927-217del deletion not provided [RCV001653333] Chr19:10162965 [GRCh38]
Chr19:10273641 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.4761C>T (p.Asp1587=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001503572] Chr19:10135748 [GRCh38]
Chr19:10246424 [GRCh37]
Chr19:19p13.2
likely benign
NC_000019.10:g.10195127_10195128dup duplication not provided [RCV001587598] Chr19:10195120..10195121 [GRCh38]
Chr19:10305796..10305797 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2266-225A>G single nucleotide variant not provided [RCV001687640] Chr19:10150193 [GRCh38]
Chr19:10260869 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.1008+45_1008+46del deletion not provided [RCV001715620] Chr19:10162621..10162622 [GRCh38]
Chr19:10273297..10273298 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.1492+243A>C single nucleotide variant not provided [RCV001585205] Chr19:10155610 [GRCh38]
Chr19:10266286 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1320C>G (p.Thr440=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001500858] Chr19:10156470 [GRCh38]
Chr19:10267146 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4656+111_4656+112dup duplication not provided [RCV001592629] Chr19:10136008..10136009 [GRCh38]
Chr19:10246684..10246685 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2020-128G>A single nucleotide variant not provided [RCV001674889] Chr19:10151975 [GRCh38]
Chr19:10262651 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.1043+26G>C single nucleotide variant not provided [RCV001654216] Chr19:10160358 [GRCh38]
Chr19:10271034 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.1493-5C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001480857] Chr19:10155061 [GRCh38]
Chr19:10265737 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1008+46del deletion not provided [RCV001612083] Chr19:10162621 [GRCh38]
Chr19:10273297 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.927-196G>A single nucleotide variant not provided [RCV001590260] Chr19:10162944 [GRCh38]
Chr19:10273620 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4490-297G>A single nucleotide variant not provided [RCV001583261] Chr19:10136584 [GRCh38]
Chr19:10247260 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2790C>T (p.Leu930=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001471931] Chr19:10146455 [GRCh38]
Chr19:10257131 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.615G>A (p.Ser205=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001453605] Chr19:10175573 [GRCh38]
Chr19:10286249 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3231C>T (p.Thr1077=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001463939] Chr19:10142106 [GRCh38]
Chr19:10252782 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.493+196del deletion not provided [RCV001686075] Chr19:10179991 [GRCh38]
Chr19:10290667 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.2166T>C (p.Asp722=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001498628] Chr19:10151497 [GRCh38]
Chr19:10262173 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2118-7A>C single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001497741] Chr19:10151552 [GRCh38]
Chr19:10262228 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.222C>T (p.Ser74=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001482929] Chr19:10180781 [GRCh38]
Chr19:10291457 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1743C>T (p.Asp581=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001480118] Chr19:10154675 [GRCh38]
Chr19:10265351 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4779C>G (p.Gly1593=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001467411] Chr19:10134302 [GRCh38]
Chr19:10244978 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4404C>G (p.Ala1468=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001478212] Chr19:10137170 [GRCh38]
Chr19:10247846 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1815G>T (p.Gly605=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001461715] Chr19:10154603 [GRCh38]
Chr19:10265279 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4302T>C (p.Ser1434=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001423329] Chr19:10137272 [GRCh38]
Chr19:10247948 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3183C>T (p.Ser1061=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001423442] Chr19:10142154 [GRCh38]
Chr19:10252830 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1479C>T (p.Ile493=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001459514] Chr19:10155866 [GRCh38]
Chr19:10266542 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1935T>C (p.Asp645=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001415865]|not provided [RCV001810733] Chr19:10154377 [GRCh38]
Chr19:10265053 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2049T>C (p.Cys683=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001461506] Chr19:10151818 [GRCh38]
Chr19:10262494 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3870C>T (p.Phe1290=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001398268] Chr19:10139754 [GRCh38]
Chr19:10250430 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1941C>T (p.Phe647=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001503915] Chr19:10154371 [GRCh38]
Chr19:10265047 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1833-5C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001437191]|Inborn genetic diseases [RCV002405026] Chr19:10154484 [GRCh38]
Chr19:10265160 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4746C>T (p.Phe1582=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001418331]|not provided [RCV001810734] Chr19:10135763 [GRCh38]
Chr19:10246439 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.282C>T (p.Asn94=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001505536] Chr19:10180513 [GRCh38]
Chr19:10291189 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1875G>A (p.Arg625=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001438579] Chr19:10154437 [GRCh38]
Chr19:10265113 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2622C>T (p.Asp874=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001424200]|not provided [RCV001587405] Chr19:10148982 [GRCh38]
Chr19:10259658 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4260G>A (p.Gln1420=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001437530] Chr19:10137865 [GRCh38]
Chr19:10248541 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3489C>A (p.Gly1163=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001488854] Chr19:10140815 [GRCh38]
Chr19:10251491 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1065C>T (p.Arg355=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001480976] Chr19:10160042 [GRCh38]
Chr19:10270718 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4215C>T (p.Asn1405=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001416814] Chr19:10137910 [GRCh38]
Chr19:10248586 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4641G>T (p.Glu1547Asp) single nucleotide variant Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002249028] Chr19:10136136 [GRCh38]
Chr19:10246812 [GRCh37]
Chr19:19p13.2
likely pathogenic
NC_000019.9:g.(?_10244343)_(10245003_?)dup duplication Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003105487] Chr19:10244343..10245003 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2630A>G (p.Lys877Arg) single nucleotide variant not provided [RCV001769314] Chr19:10148974 [GRCh38]
Chr19:10259650 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4510G>A (p.Ala1504Thr) single nucleotide variant not provided [RCV001772853] Chr19:10136267 [GRCh38]
Chr19:10246943 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.430G>A (p.Asp144Asn) single nucleotide variant not provided [RCV001754437] Chr19:10180365 [GRCh38]
Chr19:10291041 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.726A>C (p.Lys242Asn) single nucleotide variant not provided [RCV001765654] Chr19:10173132 [GRCh38]
Chr19:10283808 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4891A>G (p.Lys1631Glu) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002541236]|not provided [RCV001786104] Chr19:10133675 [GRCh38]
Chr19:10244351 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3656C>T (p.Thr1219Ile) single nucleotide variant not provided [RCV001773958] Chr19:10140196 [GRCh38]
Chr19:10250872 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1972G>C (p.Glu658Gln) single nucleotide variant not provided [RCV001774129] Chr19:10154340 [GRCh38]
Chr19:10265016 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3139A>G (p.Thr1047Ala) single nucleotide variant Inborn genetic diseases [RCV002544102]|not provided [RCV001752663] Chr19:10142198 [GRCh38]
Chr19:10252874 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.859C>G (p.Gln287Glu) single nucleotide variant Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002496089]|not provided [RCV001770626] Chr19:10166630 [GRCh38]
Chr19:10277306 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3343C>G (p.Pro1115Ala) single nucleotide variant not provided [RCV001769092] Chr19:10141156 [GRCh38]
Chr19:10251832 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2851G>A (p.Val951Ile) single nucleotide variant not provided [RCV001771409] Chr19:10146394 [GRCh38]
Chr19:10257070 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3209A>G (p.Lys1070Arg) single nucleotide variant not provided [RCV001800115] Chr19:10142128 [GRCh38]
Chr19:10252804 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1613C>T (p.Ser538Leu) single nucleotide variant not provided [RCV001763248] Chr19:10154936 [GRCh38]
Chr19:10265612 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3509G>T (p.Gly1170Val) single nucleotide variant not provided [RCV001758118] Chr19:10140795 [GRCh38]
Chr19:10251471 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.223G>A (p.Glu75Lys) single nucleotide variant not provided [RCV001797484] Chr19:10180780 [GRCh38]
Chr19:10291456 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.856G>C (p.Val286Leu) single nucleotide variant not provided [RCV001797543] Chr19:10166633 [GRCh38]
Chr19:10277309 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1931T>G (p.Phe644Cys) single nucleotide variant not provided [RCV001756974] Chr19:10154381 [GRCh38]
Chr19:10265057 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.570-7G>A single nucleotide variant not provided [RCV001754202] Chr19:10175625 [GRCh38]
Chr19:10286301 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4459G>A (p.Ala1487Thr) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001809001] Chr19:10137115 [GRCh38]
Chr19:10247791 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.80+5G>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001930067] Chr19:10194815 [GRCh38]
Chr19:10305491 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3806G>A (p.Ser1269Asn) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002005466] Chr19:10140046 [GRCh38]
Chr19:10250722 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2164G>T (p.Asp722Tyr) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002006204] Chr19:10151499 [GRCh38]
Chr19:10262175 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2949C>A (p.Asp983Glu) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002022882] Chr19:10143933 [GRCh38]
Chr19:10254609 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4121G>T (p.Ser1374Ile) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002024429] Chr19:10138004 [GRCh38]
Chr19:10248680 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.80+18G>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001950130] Chr19:10194802 [GRCh38]
Chr19:10305478 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3394+13A>G single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001970456] Chr19:10141092 [GRCh38]
Chr19:10251768 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2406C>A (p.Ser802Arg) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001949754] Chr19:10149633 [GRCh38]
Chr19:10260309 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1163C>A (p.Pro388Gln) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002024967] Chr19:10159849 [GRCh38]
Chr19:10270525 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.446-2A>G single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001889817] Chr19:10180236 [GRCh38]
Chr19:10290912 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4773+20C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001983367] Chr19:10135716 [GRCh38]
Chr19:10246392 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2606C>G (p.Ser869Cys) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001911092]|Inborn genetic diseases [RCV002440981] Chr19:10148998 [GRCh38]
Chr19:10259674 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2849G>A (p.Arg950Gln) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001891687] Chr19:10146396 [GRCh38]
Chr19:10257072 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.317G>A (p.Arg106His) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001910372] Chr19:10180478 [GRCh38]
Chr19:10291154 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4000G>T (p.Ala1334Ser) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001913895] Chr19:10138554 [GRCh38]
Chr19:10249230 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3523+3G>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001911627] Chr19:10140778 [GRCh38]
Chr19:10251454 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.625A>C (p.Ile209Leu) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002007907] Chr19:10175563 [GRCh38]
Chr19:10286239 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2443G>A (p.Ala815Thr) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002024626] Chr19:10149596 [GRCh38]
Chr19:10260272 [GRCh37]
Chr19:19p13.2
uncertain significance
GRCh37/hg19 19p13.2(chr19:9941033-11739567)x3 copy number gain not provided [RCV001834267] Chr19:9941033..11739567 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1945G>A (p.Ala649Thr) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002008002] Chr19:10154367 [GRCh38]
Chr19:10265043 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2911C>A (p.Pro971Thr) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001890052] Chr19:10143971 [GRCh38]
Chr19:10254647 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3163A>G (p.Ile1055Val) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001909021] Chr19:10142174 [GRCh38]
Chr19:10252850 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3292C>T (p.Arg1098Cys) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001911686] Chr19:10142045 [GRCh38]
Chr19:10252721 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.673T>A (p.Ser225Thr) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002040914]|Inborn genetic diseases [RCV002361405] Chr19:10173881 [GRCh38]
Chr19:10284557 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4445G>A (p.Arg1482His) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002003119]|not provided [RCV003408046] Chr19:10137129 [GRCh38]
Chr19:10247805 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.61C>G (p.Pro21Ala) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001965678] Chr19:10194839 [GRCh38]
Chr19:10305515 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1280+20C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001894809] Chr19:10159638 [GRCh38]
Chr19:10270314 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2031G>T (p.Gln677His) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002022721] Chr19:10151836 [GRCh38]
Chr19:10262512 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3316A>G (p.Asn1106Asp) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001894866] Chr19:10141183 [GRCh38]
Chr19:10251859 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4490C>T (p.Ala1497Val) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001892358] Chr19:10136287 [GRCh38]
Chr19:10246963 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2164GAT[3] (p.Asp723dup) microsatellite Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002007078] Chr19:10151493..10151494 [GRCh38]
Chr19:10262169..10262170 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3838C>A (p.Leu1280Ile) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002005397] Chr19:10139786 [GRCh38]
Chr19:10250462 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3107A>G (p.Lys1036Arg) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001885535] Chr19:10143775 [GRCh38]
Chr19:10254451 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2386A>G (p.Thr796Ala) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001944198] Chr19:10149653 [GRCh38]
Chr19:10260329 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.142C>A (p.Leu48Ile) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001925968] Chr19:10180861 [GRCh38]
Chr19:10291537 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.353G>A (p.Arg118His) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001899700] Chr19:10180442 [GRCh38]
Chr19:10291118 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.1744G>A (p.Glu582Lys) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001904290] Chr19:10154674 [GRCh38]
Chr19:10265350 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4773+14C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001977532] Chr19:10135722 [GRCh38]
Chr19:10246398 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2020G>A (p.Val674Met) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001883138] Chr19:10151847 [GRCh38]
Chr19:10262523 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4324C>T (p.Arg1442Trp) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001921698]|Inborn genetic diseases [RCV002331464]|not provided [RCV002253992] Chr19:10137250 [GRCh38]
Chr19:10247926 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2741G>A (p.Arg914His) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001938132]|not provided [RCV003325588] Chr19:10146504 [GRCh38]
Chr19:10257180 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4441G>A (p.Gly1481Ser) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001993557] Chr19:10137133 [GRCh38]
Chr19:10247809 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4172C>T (p.Pro1391Leu) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001897876] Chr19:10137953 [GRCh38]
Chr19:10248629 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3807-9C>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001957680] Chr19:10139826 [GRCh38]
Chr19:10250502 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4600G>C (p.Glu1534Gln) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002012000] Chr19:10136177 [GRCh38]
Chr19:10246853 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.4116-22_4116-20del deletion Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001915755] Chr19:10138029..10138031 [GRCh38]
Chr19:10248705..10248707 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4002G>A (p.Ala1334=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001990496] Chr19:10138552 [GRCh38]
Chr19:10249228 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.876A>C (p.Glu292Asp) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001900012] Chr19:10166613 [GRCh38]
Chr19:10277289 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.101A>G (p.Asp34Gly) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002031912] Chr19:10182057 [GRCh38]
Chr19:10292733 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3437C>G (p.Pro1146Arg) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001955257]|not provided [RCV003426259] Chr19:10140867 [GRCh38]
Chr19:10251543 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3667C>T (p.Arg1223Cys) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001921106]|not provided [RCV003149005] Chr19:10140185 [GRCh38]
Chr19:10250861 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4663G>A (p.Val1555Met) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002011597] Chr19:10135846 [GRCh38]
Chr19:10246522 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4514C>T (p.Ala1505Val) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002036682] Chr19:10136263 [GRCh38]
Chr19:10246939 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.464C>T (p.Ala155Val) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001884482] Chr19:10180216 [GRCh38]
Chr19:10290892 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2554T>G (p.Tyr852Asp) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001877745] Chr19:10149485 [GRCh38]
Chr19:10260161 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1978_1980del (p.Lys660del) deletion Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001883383] Chr19:10154332..10154334 [GRCh38]
Chr19:10265008..10265010 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2895-15G>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001905337] Chr19:10144002 [GRCh38]
Chr19:10254678 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4850G>A (p.Arg1617Gln) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001925307] Chr19:10134231 [GRCh38]
Chr19:10244907 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.2644C>G (p.Gln882Glu) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002013506] Chr19:10148960 [GRCh38]
Chr19:10259636 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.469G>T (p.Ala157Ser) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001885987] Chr19:10180211 [GRCh38]
Chr19:10290887 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2310G>A (p.Ala770=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001925952] Chr19:10149924 [GRCh38]
Chr19:10260600 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.44T>C (p.Val15Ala) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001869959] Chr19:10194856 [GRCh38]
Chr19:10305532 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2788C>T (p.Leu930Phe) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001959438] Chr19:10146457 [GRCh38]
Chr19:10257133 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3809A>G (p.Tyr1270Cys) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001972142] Chr19:10139815 [GRCh38]
Chr19:10250491 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3806+7G>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002017444] Chr19:10140039 [GRCh38]
Chr19:10250715 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3143C>T (p.Pro1048Leu) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002026508]|Inborn genetic diseases [RCV002324490] Chr19:10142194 [GRCh38]
Chr19:10252870 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.150C>G (p.His50Gln) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001925550] Chr19:10180853 [GRCh38]
Chr19:10291529 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3575C>T (p.Ala1192Val) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001976432] Chr19:10140277 [GRCh38]
Chr19:10250953 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.833C>T (p.Pro278Leu) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001900550]|Inborn genetic diseases [RCV002406975] Chr19:10166656 [GRCh38]
Chr19:10277332 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4222C>T (p.Pro1408Ser) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001924758] Chr19:10137903 [GRCh38]
Chr19:10248579 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3177C>T (p.Tyr1059=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001939349] Chr19:10142160 [GRCh38]
Chr19:10252836 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.736C>T (p.Arg246Cys) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001886247]|Inborn genetic diseases [RCV002370431]|not provided [RCV002469420] Chr19:10173122 [GRCh38]
Chr19:10283798 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.611A>G (p.Lys204Arg) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001999117] Chr19:10175577 [GRCh38]
Chr19:10286253 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2583G>A (p.Met861Ile) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001924438] Chr19:10149456 [GRCh38]
Chr19:10260132 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4856G>A (p.Ser1619Asn) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001916627] Chr19:10134225 [GRCh38]
Chr19:10244901 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2821T>G (p.Ser941Ala) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001957891] Chr19:10146424 [GRCh38]
Chr19:10257100 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.2806C>G (p.Arg936Gly) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001918765] Chr19:10146439 [GRCh38]
Chr19:10257115 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1116C>G (p.Cys372Trp) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001919587] Chr19:10159896 [GRCh38]
Chr19:10270572 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.19C>T (p.Pro7Ser) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001866672] Chr19:10194881 [GRCh38]
Chr19:10305557 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4754T>C (p.Ile1585Thr) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001917106] Chr19:10135755 [GRCh38]
Chr19:10246431 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2382G>A (p.Arg794=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV001994178] Chr19:10149657 [GRCh38]
Chr19:10260333 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4115+13C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002091895] Chr19:10138426 [GRCh38]
Chr19:10249102 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.684-8C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002166585] Chr19:10173182 [GRCh38]
Chr19:10283858 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3583C>T (p.Leu1195=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002205606] Chr19:10140269 [GRCh38]
Chr19:10250945 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2337C>T (p.Val779=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002112789] Chr19:10149897 [GRCh38]
Chr19:10260573 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3949-8C>G single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002074684] Chr19:10138613 [GRCh38]
Chr19:10249289 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.81-15A>G single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002090611] Chr19:10182092 [GRCh38]
Chr19:10292768 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2382-16C>G single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002124608] Chr19:10149673 [GRCh38]
Chr19:10260349 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.4359C>T (p.Arg1453=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002185257] Chr19:10137215 [GRCh38]
Chr19:10247891 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4116-16T>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002144752] Chr19:10138025 [GRCh38]
Chr19:10248701 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.906C>T (p.His302=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002167747] Chr19:10163346 [GRCh38]
Chr19:10274022 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2587-13C>G single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002075234] Chr19:10149030 [GRCh38]
Chr19:10259706 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1833-11C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002187913] Chr19:10154490 [GRCh38]
Chr19:10265166 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4878G>A (p.Glu1626=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002107408] Chr19:10133688 [GRCh38]
Chr19:10244364 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.1492+18C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002190498] Chr19:10155835 [GRCh38]
Chr19:10266511 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4509C>T (p.Pro1503=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002125871] Chr19:10136268 [GRCh38]
Chr19:10246944 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4774-12C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002108850] Chr19:10134319 [GRCh38]
Chr19:10244995 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1832+11G>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002185062] Chr19:10154575 [GRCh38]
Chr19:10265251 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1400-14T>G single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002187149] Chr19:10155959 [GRCh38]
Chr19:10266635 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4194G>A (p.Ser1398=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002169121] Chr19:10137931 [GRCh38]
Chr19:10248607 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.570-4A>G single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002109100] Chr19:10175622 [GRCh38]
Chr19:10286298 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2894+10C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002110329] Chr19:10146341 [GRCh38]
Chr19:10257017 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2217G>A (p.Lys739=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002090474] Chr19:10151446 [GRCh38]
Chr19:10262122 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1009-5T>C single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002091167] Chr19:10160423 [GRCh38]
Chr19:10271099 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.80+18dup duplication Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002126389] Chr19:10194801..10194802 [GRCh38]
Chr19:10305477..10305478 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.1089+9C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002185561] Chr19:10160009 [GRCh38]
Chr19:10270685 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3066C>T (p.Asn1022=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002086107] Chr19:10143816 [GRCh38]
Chr19:10254492 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.493+14C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002130381] Chr19:10180173 [GRCh38]
Chr19:10290849 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2117+14del deletion Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002075200] Chr19:10151736 [GRCh38]
Chr19:10262412 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2814C>G (p.Leu938=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002173687] Chr19:10146431 [GRCh38]
Chr19:10257107 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4230C>T (p.Ser1410=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002097517] Chr19:10137895 [GRCh38]
Chr19:10248571 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1832+17G>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002134963] Chr19:10154569 [GRCh38]
Chr19:10265245 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4490-10T>C single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002114129] Chr19:10136297 [GRCh38]
Chr19:10246973 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3720G>A (p.Pro1240=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002212056] Chr19:10140132 [GRCh38]
Chr19:10250808 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.445+7G>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002112940] Chr19:10180343 [GRCh38]
Chr19:10291019 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4026G>C (p.Leu1342=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002167412] Chr19:10138528 [GRCh38]
Chr19:10249204 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.891+9G>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002213558] Chr19:10166589 [GRCh38]
Chr19:10277265 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.118-15A>G single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002114902] Chr19:10180900 [GRCh38]
Chr19:10291576 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4662C>T (p.Arg1554=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002078891] Chr19:10135847 [GRCh38]
Chr19:10246523 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4773+12G>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002096337] Chr19:10135724 [GRCh38]
Chr19:10246400 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4657-18C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002171011] Chr19:10135870 [GRCh38]
Chr19:10246546 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4490-16C>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002171192] Chr19:10136303 [GRCh38]
Chr19:10246979 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1170+18C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002172608] Chr19:10159824 [GRCh38]
Chr19:10270500 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4638C>T (p.Pro1546=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002211615] Chr19:10136139 [GRCh38]
Chr19:10246815 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.446-20C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002080474] Chr19:10180254 [GRCh38]
Chr19:10290930 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.411G>A (p.Thr137=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002095330] Chr19:10180384 [GRCh38]
Chr19:10291060 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2586+11G>C single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002146754] Chr19:10149442 [GRCh38]
Chr19:10260118 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1044-8T>C single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002195922] Chr19:10160071 [GRCh38]
Chr19:10270747 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3832T>C (p.Phe1278Leu) single nucleotide variant not provided [RCV002214088] Chr19:10139792 [GRCh38]
Chr19:10250468 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1492+18C>G single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002108910] Chr19:10155835 [GRCh38]
Chr19:10266511 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4773+19G>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002093034] Chr19:10135717 [GRCh38]
Chr19:10246393 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2367G>T (p.Pro789=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002080035] Chr19:10149867 [GRCh38]
Chr19:10260543 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2587-16A>C single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002170263] Chr19:10149033 [GRCh38]
Chr19:10259709 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3806+17C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002185072] Chr19:10140029 [GRCh38]
Chr19:10250705 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2493C>G (p.Phe831Leu) single nucleotide variant not provided [RCV002224671] Chr19:10149546 [GRCh38]
Chr19:10260222 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1470G>A (p.Lys490=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002152244] Chr19:10155875 [GRCh38]
Chr19:10266551 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3949-17G>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002127685] Chr19:10138622 [GRCh38]
Chr19:10249298 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1089+18A>G single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002149519] Chr19:10160000 [GRCh38]
Chr19:10270676 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2973A>G (p.Lys991=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002078204] Chr19:10143909 [GRCh38]
Chr19:10254585 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.80+20A>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002091327] Chr19:10194800 [GRCh38]
Chr19:10305476 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3294C>T (p.Arg1098=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002212484] Chr19:10142043 [GRCh38]
Chr19:10252719 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1280+14C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002173366] Chr19:10159644 [GRCh38]
Chr19:10270320 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3949-9C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002104656] Chr19:10138614 [GRCh38]
Chr19:10249290 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4440C>T (p.Asn1480=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002149352] Chr19:10137134 [GRCh38]
Chr19:10247810 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.246C>G (p.Val82=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002196792] Chr19:10180549 [GRCh38]
Chr19:10291225 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4179G>C (p.Val1393=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002167916] Chr19:10137946 [GRCh38]
Chr19:10248622 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1890A>T (p.Gly630=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002076630] Chr19:10154422 [GRCh38]
Chr19:10265098 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1044-14T>C single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002126948] Chr19:10160077 [GRCh38]
Chr19:10270753 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1089+12C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002094359] Chr19:10160006 [GRCh38]
Chr19:10270682 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.891+19T>C single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002075610] Chr19:10166579 [GRCh38]
Chr19:10277255 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2391G>T (p.Ala797=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002152050] Chr19:10149648 [GRCh38]
Chr19:10260324 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1009-17T>C single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002195816] Chr19:10160435 [GRCh38]
Chr19:10271111 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3395-11C>G single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002127162] Chr19:10140920 [GRCh38]
Chr19:10251596 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2020-12G>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002077967] Chr19:10151859 [GRCh38]
Chr19:10262535 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1170+13C>G single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002213684] Chr19:10159829 [GRCh38]
Chr19:10270505 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4489+18T>C single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002095192] Chr19:10137067 [GRCh38]
Chr19:10247743 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.648+18A>G single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002099589] Chr19:10175522 [GRCh38]
Chr19:10286198 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.768+11A>G single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002119384] Chr19:10173079 [GRCh38]
Chr19:10283755 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2382-16C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002159808] Chr19:10149673 [GRCh38]
Chr19:10260349 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4024C>T (p.Leu1342=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002218734] Chr19:10138530 [GRCh38]
Chr19:10249206 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.81-3del deletion Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002158323] Chr19:10182080 [GRCh38]
Chr19:10292756 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3537G>T (p.Thr1179=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002178850] Chr19:10140315 [GRCh38]
Chr19:10250991 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4773+15G>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002220331] Chr19:10135721 [GRCh38]
Chr19:10246397 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.446-10T>C single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002083406] Chr19:10180244 [GRCh38]
Chr19:10290920 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2904G>C (p.Leu968=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002159901] Chr19:10143978 [GRCh38]
Chr19:10254654 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.684-17G>C single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002142881] Chr19:10173191 [GRCh38]
Chr19:10283867 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2412C>T (p.Asn804=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002123835] Chr19:10149627 [GRCh38]
Chr19:10260303 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4521G>A (p.Gln1507=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002120001] Chr19:10136256 [GRCh38]
Chr19:10246932 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4136G>A (p.Arg1379Gln) single nucleotide variant Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002227775] Chr19:10137989 [GRCh38]
Chr19:10248665 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.226-7G>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002182105] Chr19:10180576 [GRCh38]
Chr19:10291252 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3949-5C>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002164167]|Inborn genetic diseases [RCV002363693] Chr19:10138610 [GRCh38]
Chr19:10249286 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_001130823.3(DNMT1):c.2019+19G>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002103468] Chr19:10154274 [GRCh38]
Chr19:10264950 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.3120T>C (p.Pro1040=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002162592] Chr19:10142217 [GRCh38]
Chr19:10252893 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3523+7G>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002137115] Chr19:10140774 [GRCh38]
Chr19:10251450 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3000C>T (p.Asn1000=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002218469] Chr19:10143882 [GRCh38]
Chr19:10254558 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1089+18A>C single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002097871] Chr19:10160000 [GRCh38]
Chr19:10270676 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2670G>A (p.Ala890=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002121256] Chr19:10148934 [GRCh38]
Chr19:10259610 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.714T>C (p.Pro238=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002202904] Chr19:10173144 [GRCh38]
Chr19:10283820 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4294-18C>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002163036] Chr19:10137298 [GRCh38]
Chr19:10247974 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.834G>A (p.Pro278=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002156487] Chr19:10166655 [GRCh38]
Chr19:10277331 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2280G>A (p.Lys760=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002159658] Chr19:10149954 [GRCh38]
Chr19:10260630 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.648+17C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002081993] Chr19:10175523 [GRCh38]
Chr19:10286199 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4773+11C>T single nucleotide variant Autosomal dominant cerebellar ataxia, deafness and narcolepsy [RCV002500124]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002081999] Chr19:10135725 [GRCh38]
Chr19:10246401 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4115+17G>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002118372] Chr19:10138422 [GRCh38]
Chr19:10249098 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4272C>T (p.Ile1424=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002102601] Chr19:10137853 [GRCh38]
Chr19:10248529 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3024A>G (p.Arg1008=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002162100] Chr19:10143858 [GRCh38]
Chr19:10254534 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2286C>T (p.Tyr762=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002124023] Chr19:10149948 [GRCh38]
Chr19:10260624 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4657-5C>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002155664] Chr19:10135857 [GRCh38]
Chr19:10246533 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.183A>G (p.Leu61=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002161625] Chr19:10180820 [GRCh38]
Chr19:10291496 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3231C>A (p.Thr1077=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002203555] Chr19:10142106 [GRCh38]
Chr19:10252782 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1644+8A>G single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002083739] Chr19:10154897 [GRCh38]
Chr19:10265573 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2904G>T (p.Leu968=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002178135] Chr19:10143978 [GRCh38]
Chr19:10254654 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.892-16C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002181494] Chr19:10163376 [GRCh38]
Chr19:10274052 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1839C>G (p.Ala613=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002142058] Chr19:10154473 [GRCh38]
Chr19:10265149 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.849G>A (p.Arg283=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002163082] Chr19:10166640 [GRCh38]
Chr19:10277316 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2103T>C (p.Ala701=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002155379] Chr19:10151764 [GRCh38]
Chr19:10262440 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.569+17T>C single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003110673] Chr19:10177275 [GRCh38]
Chr19:10287951 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2874C>A (p.Pro958=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003110684] Chr19:10146371 [GRCh38]
Chr19:10257047 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3504G>A (p.Ser1168=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003116959] Chr19:10140800 [GRCh38]
Chr19:10251476 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1090-13C>G single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003117095] Chr19:10159935 [GRCh38]
Chr19:10270611 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3949-18C>G single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003118566] Chr19:10138623 [GRCh38]
Chr19:10249299 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3186C>G (p.Asp1062Glu) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003122279] Chr19:10142151 [GRCh38]
Chr19:10252827 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.432T>C (p.Asp144=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003118702] Chr19:10180363 [GRCh38]
Chr19:10291039 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.4416G>A (p.Arg1472=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003121487] Chr19:10137158 [GRCh38]
Chr19:10247834 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2242T>G (p.Ser748Ala) single nucleotide variant Spastic paraparesis [RCV002226875] Chr19:10151421 [GRCh38]
Chr19:10262097 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2569G>A (p.Glu857Lys) single nucleotide variant not provided [RCV002274699] Chr19:10149470 [GRCh38]
Chr19:10260146 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.29T>G (p.Val10Gly) single nucleotide variant Inborn genetic diseases [RCV002435612] Chr19:10194871 [GRCh38]
Chr19:10305547 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2019+8C>A single nucleotide variant not provided [RCV002276061] Chr19:10154285 [GRCh38]
Chr19:10264961 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.490A>G (p.Arg164Gly) single nucleotide variant not provided [RCV002275409] Chr19:10180190 [GRCh38]
Chr19:10290866 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4746C>G (p.Phe1582Leu) single nucleotide variant not provided [RCV002265248] Chr19:10135763 [GRCh38]
Chr19:10246439 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3760C>T (p.Arg1254Cys) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003094319]|Inborn genetic diseases [RCV002349018] Chr19:10140092 [GRCh38]
Chr19:10250768 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2894+3A>G single nucleotide variant Inborn genetic diseases [RCV002435299] Chr19:10146348 [GRCh38]
Chr19:10257024 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3363C>G (p.Ser1121Arg) single nucleotide variant not provided [RCV002293752] Chr19:10141136 [GRCh38]
Chr19:10251812 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1829A>G (p.Gln610Arg) single nucleotide variant not provided [RCV002293781] Chr19:10154589 [GRCh38]
Chr19:10265265 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3081G>T (p.Glu1027Asp) single nucleotide variant Inborn genetic diseases [RCV002438133] Chr19:10143801 [GRCh38]
Chr19:10254477 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2737G>T (p.Ala913Ser) single nucleotide variant Inborn genetic diseases [RCV002437349] Chr19:10146508 [GRCh38]
Chr19:10257184 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3800T>C (p.Phe1267Ser) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003095881]|not provided [RCV002261602] Chr19:10140052 [GRCh38]
Chr19:10250728 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3835T>C (p.Phe1279Leu) single nucleotide variant Inborn genetic diseases [RCV002351178] Chr19:10139789 [GRCh38]
Chr19:10250465 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3359G>A (p.Arg1120His) single nucleotide variant Inborn genetic diseases [RCV002454715] Chr19:10141140 [GRCh38]
Chr19:10251816 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.289C>T (p.His97Tyr) single nucleotide variant Inborn genetic diseases [RCV002438018] Chr19:10180506 [GRCh38]
Chr19:10291182 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.373G>A (p.Ala125Thr) single nucleotide variant not provided [RCV003129082] Chr19:10180422 [GRCh38]
Chr19:10291098 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3670G>A (p.Gly1224Ser) single nucleotide variant not provided [RCV003156694] Chr19:10140182 [GRCh38]
Chr19:10250858 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1590G>A (p.Glu530=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002681593] Chr19:10154959 [GRCh38]
Chr19:10265635 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3256G>A (p.Glu1086Lys) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002470411] Chr19:10142081 [GRCh38]
Chr19:10252757 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3176A>G (p.Tyr1059Cys) single nucleotide variant not provided [RCV002473404] Chr19:10142161 [GRCh38]
Chr19:10252837 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4895A>G (p.Asp1632Gly) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002303771] Chr19:10133671 [GRCh38]
Chr19:10244347 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.64G>A (p.Asp22Asn) single nucleotide variant Inborn genetic diseases [RCV002364133] Chr19:10194836 [GRCh38]
Chr19:10305512 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.926T>G (p.Leu309Arg) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002304043] Chr19:10163326 [GRCh38]
Chr19:10274002 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1880A>G (p.Lys627Arg) single nucleotide variant not provided [RCV002469532] Chr19:10154432 [GRCh38]
Chr19:10265108 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.917C>A (p.Pro306His) single nucleotide variant Inborn genetic diseases [RCV002449710] Chr19:10163335 [GRCh38]
Chr19:10274011 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2623G>T (p.Asp875Tyr) single nucleotide variant Inborn genetic diseases [RCV002426040] Chr19:10148981 [GRCh38]
Chr19:10259657 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3937G>T (p.Gly1313Cys) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002299109] Chr19:10139687 [GRCh38]
Chr19:10250363 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3149G>C (p.Ser1050Thr) single nucleotide variant Inborn genetic diseases [RCV002325993] Chr19:10142188 [GRCh38]
Chr19:10252864 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1170+5G>T single nucleotide variant Inborn genetic diseases [RCV002440249] Chr19:10159837 [GRCh38]
Chr19:10270513 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2828C>T (p.Thr943Ile) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002296141] Chr19:10146417 [GRCh38]
Chr19:10257093 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.31C>G (p.Pro11Ala) single nucleotide variant Inborn genetic diseases [RCV002322954] Chr19:10194869 [GRCh38]
Chr19:10305545 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4325G>A (p.Arg1442Gln) single nucleotide variant Inborn genetic diseases [RCV002330080] Chr19:10137249 [GRCh38]
Chr19:10247925 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3806+6C>A single nucleotide variant Inborn genetic diseases [RCV002363823] Chr19:10140040 [GRCh38]
Chr19:10250716 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2806C>T (p.Arg936Trp) single nucleotide variant Inborn genetic diseases [RCV002439442] Chr19:10146439 [GRCh38]
Chr19:10257115 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4255G>T (p.Ala1419Ser) single nucleotide variant Inborn genetic diseases [RCV002327908] Chr19:10137870 [GRCh38]
Chr19:10248546 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2816A>G (p.Tyr939Cys) single nucleotide variant Inborn genetic diseases [RCV002439569] Chr19:10146429 [GRCh38]
Chr19:10257105 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4828C>T (p.Leu1610Phe) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002303404] Chr19:10134253 [GRCh38]
Chr19:10244929 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4375G>A (p.Glu1459Lys) single nucleotide variant Inborn genetic diseases [RCV002332073] Chr19:10137199 [GRCh38]
Chr19:10247875 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1844C>T (p.Ala615Val) single nucleotide variant Inborn genetic diseases [RCV002407801] Chr19:10154468 [GRCh38]
Chr19:10265144 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.889A>C (p.Lys297Gln) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003099938]|Inborn genetic diseases [RCV002412609] Chr19:10166600 [GRCh38]
Chr19:10277276 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3824G>A (p.Arg1275Gln) single nucleotide variant Inborn genetic diseases [RCV002363875] Chr19:10139800 [GRCh38]
Chr19:10250476 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1595T>C (p.Leu532Pro) single nucleotide variant Inborn genetic diseases [RCV002403290] Chr19:10154954 [GRCh38]
Chr19:10265630 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3253C>T (p.Pro1085Ser) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002295111] Chr19:10142084 [GRCh38]
Chr19:10252760 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4773+3C>G single nucleotide variant Inborn genetic diseases [RCV002335428] Chr19:10135733 [GRCh38]
Chr19:10246409 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4683C>G (p.His1561Gln) single nucleotide variant Inborn genetic diseases [RCV002342577] Chr19:10135826 [GRCh38]
Chr19:10246502 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2956C>G (p.Pro986Ala) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003102862]|Inborn genetic diseases [RCV002439780] Chr19:10143926 [GRCh38]
Chr19:10254602 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4382G>A (p.Arg1461Gln) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002615424] Chr19:10137192 [GRCh38]
Chr19:10247868 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3807-7C>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003012319] Chr19:10139824 [GRCh38]
Chr19:10250500 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4478C>G (p.Ser1493Cys) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002971173] Chr19:10137096 [GRCh38]
Chr19:10247772 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2390C>T (p.Ala797Val) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002731246]|not provided [RCV003238905] Chr19:10149649 [GRCh38]
Chr19:10260325 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4657-17G>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003074054] Chr19:10135869 [GRCh38]
Chr19:10246545 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.927-20T>G single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002863582] Chr19:10162768 [GRCh38]
Chr19:10273444 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1493-16C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002843628] Chr19:10155072 [GRCh38]
Chr19:10265748 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.205C>G (p.Arg69Gly) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002947207] Chr19:10180798 [GRCh38]
Chr19:10291474 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.748G>A (p.Glu250Lys) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002756154] Chr19:10173110 [GRCh38]
Chr19:10283786 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3948+18G>C single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003034141] Chr19:10139658 [GRCh38]
Chr19:10250334 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1872C>A (p.Thr624=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003075616] Chr19:10154440 [GRCh38]
Chr19:10265116 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1047G>A (p.Thr349=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002907986] Chr19:10160060 [GRCh38]
Chr19:10270736 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.386C>G (p.Pro129Arg) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003095819] Chr19:10180409 [GRCh38]
Chr19:10291085 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1043+19C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002615115] Chr19:10160365 [GRCh38]
Chr19:10271041 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1171-14C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002993758] Chr19:10159781 [GRCh38]
Chr19:10270457 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1350C>T (p.Phe450=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002730847] Chr19:10156440 [GRCh38]
Chr19:10267116 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2740C>T (p.Arg914Cys) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002996254] Chr19:10146505 [GRCh38]
Chr19:10257181 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.879T>G (p.Asp293Glu) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002815704] Chr19:10166610 [GRCh38]
Chr19:10277286 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2289T>C (p.Tyr763=) single nucleotide variant not provided [RCV002511914] Chr19:10149945 [GRCh38]
Chr19:10260621 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3723C>T (p.Pro1241=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003013367] Chr19:10140129 [GRCh38]
Chr19:10250805 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4269C>A (p.Pro1423=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002903171] Chr19:10137856 [GRCh38]
Chr19:10248532 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.444G>A (p.Lys148=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002861740] Chr19:10180351 [GRCh38]
Chr19:10291027 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.226-14C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002730551] Chr19:10180583 [GRCh38]
Chr19:10291259 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4656+13G>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002858032] Chr19:10136108 [GRCh38]
Chr19:10246784 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.2117+12C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002907659] Chr19:10151738 [GRCh38]
Chr19:10262414 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1008+20_1008+21del deletion Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002681164] Chr19:10162646..10162647 [GRCh38]
Chr19:10273322..10273323 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1883A>G (p.Asp628Gly) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002947453] Chr19:10154429 [GRCh38]
Chr19:10265105 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4360G>A (p.Asp1454Asn) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003034762] Chr19:10137214 [GRCh38]
Chr19:10247890 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1251G>A (p.Ala417=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003095801] Chr19:10159687 [GRCh38]
Chr19:10270363 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2767A>T (p.Ile923Phe) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002618480] Chr19:10146478 [GRCh38]
Chr19:10257154 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3299A>G (p.Tyr1100Cys) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003098979] Chr19:10142038 [GRCh38]
Chr19:10252714 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.672A>C (p.Thr224=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002774808] Chr19:10173882 [GRCh38]
Chr19:10284558 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4630A>T (p.Thr1544Ser) single nucleotide variant not provided [RCV002462604] Chr19:10136147 [GRCh38]
Chr19:10246823 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.22G>T (p.Ala8Ser) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002755751] Chr19:10194878 [GRCh38]
Chr19:10305554 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.80+14G>C single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002904291] Chr19:10194806 [GRCh38]
Chr19:10305482 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.385C>G (p.Pro129Ala) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003033788] Chr19:10180410 [GRCh38]
Chr19:10291086 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.493+3A>G single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003017323] Chr19:10180184 [GRCh38]
Chr19:10290860 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.352C>T (p.Arg118Cys) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002953634] Chr19:10180443 [GRCh38]
Chr19:10291119 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4884A>T (p.Glu1628Asp) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002800271] Chr19:10133682 [GRCh38]
Chr19:10244358 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2783A>G (p.Glu928Gly) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002953117] Chr19:10146462 [GRCh38]
Chr19:10257138 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3988A>G (p.Ile1330Val) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003055191] Chr19:10138566 [GRCh38]
Chr19:10249242 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4146G>C (p.Thr1382=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002740141] Chr19:10137979 [GRCh38]
Chr19:10248655 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.6G>A (p.Pro2=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002785908] Chr19:10194894 [GRCh38]
Chr19:10305570 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3516C>T (p.His1172=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002592260] Chr19:10140788 [GRCh38]
Chr19:10251464 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4172C>G (p.Pro1391Arg) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002914007] Chr19:10137953 [GRCh38]
Chr19:10248629 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4509C>G (p.Pro1503=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002705850] Chr19:10136268 [GRCh38]
Chr19:10246944 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.926+14A>G single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002886244] Chr19:10163312 [GRCh38]
Chr19:10273988 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2855G>A (p.Gly952Asp) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002998761] Chr19:10146390 [GRCh38]
Chr19:10257066 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3806+6C>G single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003019428] Chr19:10140040 [GRCh38]
Chr19:10250716 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2707G>A (p.Asp903Asn) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003037637] Chr19:10148897 [GRCh38]
Chr19:10259573 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.768+9C>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002785515] Chr19:10173081 [GRCh38]
Chr19:10283757 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.118-17C>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002979920] Chr19:10180902 [GRCh38]
Chr19:10291578 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4281C>A (p.Asp1427Glu) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003019220] Chr19:10137844 [GRCh38]
Chr19:10248520 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3033G>A (p.Arg1011=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002926651] Chr19:10143849 [GRCh38]
Chr19:10254525 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4454C>T (p.Ser1485Phe) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002695533] Chr19:10137120 [GRCh38]
Chr19:10247796 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2769C>G (p.Ile923Met) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002639991] Chr19:10146476 [GRCh38]
Chr19:10257152 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4657-16C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002795179] Chr19:10135868 [GRCh38]
Chr19:10246544 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4489+17G>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002885902] Chr19:10137068 [GRCh38]
Chr19:10247744 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3395-15G>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003078871] Chr19:10140924 [GRCh38]
Chr19:10251600 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.803+12G>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002639488] Chr19:10168318 [GRCh38]
Chr19:10278994 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1341C>T (p.Ile447=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002913696] Chr19:10156449 [GRCh38]
Chr19:10267125 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3400G>A (p.Gly1134Ser) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003081269] Chr19:10140904 [GRCh38]
Chr19:10251580 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4482C>T (p.Cys1494=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002761480] Chr19:10137092 [GRCh38]
Chr19:10247768 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2117+20C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003079704] Chr19:10151730 [GRCh38]
Chr19:10262406 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3937G>C (p.Gly1313Arg) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003038949] Chr19:10139687 [GRCh38]
Chr19:10250363 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2117+17C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002949520] Chr19:10151733 [GRCh38]
Chr19:10262409 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.479T>C (p.Val160Ala) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003002638] Chr19:10180201 [GRCh38]
Chr19:10290877 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1016A>G (p.Lys339Arg) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002796950] Chr19:10160411 [GRCh38]
Chr19:10271087 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1008+10T>G single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003080680] Chr19:10162657 [GRCh38]
Chr19:10273333 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1905C>G (p.Thr635=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002953203] Chr19:10154407 [GRCh38]
Chr19:10265083 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.3116+14_3116+32del deletion Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002637637] Chr19:10143734..10143752 [GRCh38]
Chr19:10254410..10254428 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.445+7G>C single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003041768] Chr19:10180343 [GRCh38]
Chr19:10291019 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2148_2150del (p.Asp718del) deletion Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003024862] Chr19:10151513..10151515 [GRCh38]
Chr19:10262189..10262191 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1101C>T (p.Pro367=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002642564] Chr19:10159911 [GRCh38]
Chr19:10270587 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3153C>T (p.Tyr1051=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002875571] Chr19:10142184 [GRCh38]
Chr19:10252860 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1644+16T>G single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002700731] Chr19:10154889 [GRCh38]
Chr19:10265565 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4864+18A>G single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002711351] Chr19:10134199 [GRCh38]
Chr19:10244875 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.804-5G>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002667621] Chr19:10166690 [GRCh38]
Chr19:10277366 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1077C>G (p.Val359=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003085449] Chr19:10160030 [GRCh38]
Chr19:10270706 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3524-17C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003058850] Chr19:10140345 [GRCh38]
Chr19:10251021 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.429C>T (p.Ser143=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003085979] Chr19:10180366 [GRCh38]
Chr19:10291042 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.1646C>T (p.Thr549Ile) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003058862] Chr19:10154772 [GRCh38]
Chr19:10265448 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1399+15G>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002596936] Chr19:10156376 [GRCh38]
Chr19:10267052 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.47C>T (p.Pro16Leu) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002745489] Chr19:10194853 [GRCh38]
Chr19:10305529 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3949-3C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002626947] Chr19:10138608 [GRCh38]
Chr19:10249284 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2855G>C (p.Gly952Ala) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002667834] Chr19:10146390 [GRCh38]
Chr19:10257066 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2562C>T (p.Ala854=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002932051] Chr19:10149477 [GRCh38]
Chr19:10260153 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2668G>T (p.Ala890Ser) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003005475] Chr19:10148936 [GRCh38]
Chr19:10259612 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.230G>C (p.Gly77Ala) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003056531] Chr19:10180565 [GRCh38]
Chr19:10291241 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3309+20G>C single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002890453] Chr19:10142008 [GRCh38]
Chr19:10252684 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.153A>T (p.Glu51Asp) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003041155] Chr19:10180850 [GRCh38]
Chr19:10291526 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2619G>A (p.Gly873=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002851366] Chr19:10148985 [GRCh38]
Chr19:10259661 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3466C>T (p.Arg1156Trp) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002700500] Chr19:10140838 [GRCh38]
Chr19:10251514 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.381C>T (p.Ser127=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002800697] Chr19:10180414 [GRCh38]
Chr19:10291090 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.375C>T (p.Ala125=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003083011] Chr19:10180420 [GRCh38]
Chr19:10291096 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4864+13G>C single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002852729] Chr19:10134204 [GRCh38]
Chr19:10244880 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4489+15T>C single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002894714] Chr19:10137070 [GRCh38]
Chr19:10247746 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3806+10dup duplication Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002825644] Chr19:10140035..10140036 [GRCh38]
Chr19:10250711..10250712 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.892-7C>G single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002741304] Chr19:10163367 [GRCh38]
Chr19:10274043 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2321A>G (p.Glu774Gly) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002829390] Chr19:10149913 [GRCh38]
Chr19:10260589 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1281-17C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002640724] Chr19:10156526 [GRCh38]
Chr19:10267202 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2229C>T (p.Asn743=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003007410] Chr19:10151434 [GRCh38]
Chr19:10262110 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4867A>G (p.Lys1623Glu) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002805418] Chr19:10133699 [GRCh38]
Chr19:10244375 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2814C>T (p.Leu938=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002985604] Chr19:10146431 [GRCh38]
Chr19:10257107 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3807-7C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003022326] Chr19:10139824 [GRCh38]
Chr19:10250500 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2634C>T (p.Thr878=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002932958] Chr19:10148970 [GRCh38]
Chr19:10259646 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.80+11T>G single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002890836] Chr19:10194809 [GRCh38]
Chr19:10305485 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.804-14G>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003006237] Chr19:10166699 [GRCh38]
Chr19:10277375 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3443T>G (p.Ile1148Arg) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002766935] Chr19:10140861 [GRCh38]
Chr19:10251537 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4842C>T (p.Ala1614=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002801490] Chr19:10134239 [GRCh38]
Chr19:10244915 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.684A>G (p.Arg228=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002745285] Chr19:10173174 [GRCh38]
Chr19:10283850 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3931A>G (p.Thr1311Ala) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002667620] Chr19:10139693 [GRCh38]
Chr19:10250369 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1164A>G (p.Pro388=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002666531] Chr19:10159848 [GRCh38]
Chr19:10270524 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2721-15C>G single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002801615] Chr19:10146539 [GRCh38]
Chr19:10257215 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.740C>A (p.Thr247Asn) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002631004] Chr19:10173118 [GRCh38]
Chr19:10283794 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3949-12_3949-10del deletion Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002942030] Chr19:10138615..10138617 [GRCh38]
Chr19:10249291..10249293 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2299T>G (p.Cys767Gly) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003087977] Chr19:10149935 [GRCh38]
Chr19:10260611 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1297G>A (p.Gly433Ser) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002631742] Chr19:10156493 [GRCh38]
Chr19:10267169 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2823A>G (p.Ser941=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002721159] Chr19:10146422 [GRCh38]
Chr19:10257098 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3909G>C (p.Leu1303=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002966291] Chr19:10139715 [GRCh38]
Chr19:10250391 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3898C>G (p.Leu1300Val) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002628919] Chr19:10139726 [GRCh38]
Chr19:10250402 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1087A>G (p.Lys363Glu) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002676231] Chr19:10160020 [GRCh38]
Chr19:10270696 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.570-12TG[3] microsatellite Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002746476] Chr19:10175623..10175624 [GRCh38]
Chr19:10286299..10286300 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4203G>A (p.Glu1401=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003061337] Chr19:10137922 [GRCh38]
Chr19:10248598 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.594A>G (p.Glu198=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002578345] Chr19:10175594 [GRCh38]
Chr19:10286270 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4287C>T (p.Ile1429=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002576580] Chr19:10137838 [GRCh38]
Chr19:10248514 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2118-12G>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002922480] Chr19:10151557 [GRCh38]
Chr19:10262233 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2206C>G (p.Gln736Glu) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002647334] Chr19:10151457 [GRCh38]
Chr19:10262133 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.252C>G (p.Ser84=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002835122] Chr19:10180543 [GRCh38]
Chr19:10291219 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.710A>T (p.Glu237Val) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002988353] Chr19:10173148 [GRCh38]
Chr19:10283824 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3807-11G>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002600111] Chr19:10139828 [GRCh38]
Chr19:10250504 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4657-9_4657-8del deletion Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003062818] Chr19:10135860..10135861 [GRCh38]
Chr19:10246536..10246537 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1644+8A>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003026764] Chr19:10154897 [GRCh38]
Chr19:10265573 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1849C>T (p.Arg617Trp) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002715167] Chr19:10154463 [GRCh38]
Chr19:10265139 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3117-6T>C single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002601315] Chr19:10142226 [GRCh38]
Chr19:10252902 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.497A>G (p.Glu166Gly) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002716632] Chr19:10177364 [GRCh38]
Chr19:10288040 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.1493-15_1493-13del microsatellite Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002629929] Chr19:10155069..10155071 [GRCh38]
Chr19:10265745..10265747 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.212A>G (p.Glu71Gly) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002938554] Chr19:10180791 [GRCh38]
Chr19:10291467 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.927-4G>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002717251] Chr19:10162752 [GRCh38]
Chr19:10273428 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.81-6T>C single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002630634] Chr19:10182083 [GRCh38]
Chr19:10292759 [GRCh37]
Chr19:19p13.2
benign
NM_001130823.3(DNMT1):c.2808G>T (p.Arg936=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003045670] Chr19:10146437 [GRCh38]
Chr19:10257113 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.957A>T (p.Glu319Asp) single nucleotide variant DNMT1-related condition [RCV003404050]|Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003063450] Chr19:10162718 [GRCh38]
Chr19:10273394 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4294-18C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002933677] Chr19:10137298 [GRCh38]
Chr19:10247974 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.625A>G (p.Ile209Val) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002770733] Chr19:10175563 [GRCh38]
Chr19:10286239 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3806+16C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003064825] Chr19:10140030 [GRCh38]
Chr19:10250706 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1044-10T>C single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002988879] Chr19:10160073 [GRCh38]
Chr19:10270749 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1530G>T (p.Glu510Asp) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003086914] Chr19:10155019 [GRCh38]
Chr19:10265695 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2720+19C>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002647533] Chr19:10148865 [GRCh38]
Chr19:10259541 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2875C>T (p.Pro959Ser) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003030448] Chr19:10146370 [GRCh38]
Chr19:10257046 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1832+13_1832+14inv inversion Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002576865] Chr19:10154572..10154573 [GRCh38]
Chr19:10265248..10265249 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.439G>A (p.Ala147Thr) single nucleotide variant Inborn genetic diseases [RCV002941033] Chr19:10180356 [GRCh38]
Chr19:10291032 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1827A>G (p.Gly609=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003065070] Chr19:10154591 [GRCh38]
Chr19:10265267 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.570-18C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002576536] Chr19:10175636 [GRCh38]
Chr19:10286312 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3665C>G (p.Ser1222Cys) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002806499] Chr19:10140187 [GRCh38]
Chr19:10250863 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.735G>A (p.Thr245=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003068034] Chr19:10173123 [GRCh38]
Chr19:10283799 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.833C>G (p.Pro278Arg) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003092227]|not provided [RCV003151912] Chr19:10166656 [GRCh38]
Chr19:10277332 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1710G>A (p.Ala570=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003050715] Chr19:10154708 [GRCh38]
Chr19:10265384 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.898A>G (p.Lys300Glu) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002634729] Chr19:10163354 [GRCh38]
Chr19:10274030 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3532G>C (p.Asp1178His) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002635809] Chr19:10140320 [GRCh38]
Chr19:10250996 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4251G>C (p.Arg1417=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002606543] Chr19:10137874 [GRCh38]
Chr19:10248550 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.648+19T>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002585383] Chr19:10175521 [GRCh38]
Chr19:10286197 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.569+11G>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003073473] Chr19:10177281 [GRCh38]
Chr19:10287957 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4799T>G (p.Leu1600Arg) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003050219] Chr19:10134282 [GRCh38]
Chr19:10244958 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2382-19G>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002609511] Chr19:10149676 [GRCh38]
Chr19:10260352 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2457A>T (p.Thr819=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002634049] Chr19:10149582 [GRCh38]
Chr19:10260258 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4490-9G>A single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002606372] Chr19:10136296 [GRCh38]
Chr19:10246972 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.648+7C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003068726] Chr19:10175533 [GRCh38]
Chr19:10286209 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4158G>C (p.Thr1386=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003068887] Chr19:10137967 [GRCh38]
Chr19:10248643 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1650G>A (p.Thr550=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002587849] Chr19:10154768 [GRCh38]
Chr19:10265444 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4434G>A (p.Arg1478=) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003066223] Chr19:10137140 [GRCh38]
Chr19:10247816 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2764_2766del (p.Glu922del) deletion Hereditary sensory neuropathy-deafness-dementia syndrome [RCV002603210] Chr19:10146479..10146481 [GRCh38]
Chr19:10257155..10257157 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4C>T (p.Pro2Ser) single nucleotide variant not provided [RCV003225556] Chr19:10194896 [GRCh38]
Chr19:10305572 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1280+2T>C single nucleotide variant not provided [RCV003146805] Chr19:10159656 [GRCh38]
Chr19:10270332 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2801A>C (p.Asp934Ala) single nucleotide variant not provided [RCV003225465] Chr19:10146444 [GRCh38]
Chr19:10257120 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.804-8T>C single nucleotide variant not provided [RCV003222960] Chr19:10166693 [GRCh38]
Chr19:10277369 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4700G>A (p.Arg1567Gln) single nucleotide variant not provided [RCV003146806] Chr19:10135809 [GRCh38]
Chr19:10246485 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3255C>T (p.Pro1085=) single nucleotide variant not provided [RCV003146804] Chr19:10142082 [GRCh38]
Chr19:10252758 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3524-5G>T single nucleotide variant not specified [RCV003324421] Chr19:10140333 [GRCh38]
Chr19:10251009 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3678G>A (p.Arg1226=) single nucleotide variant not provided [RCV003329591] Chr19:10140174 [GRCh38]
Chr19:10250850 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2894+4A>G single nucleotide variant not provided [RCV003423328] Chr19:10146347 [GRCh38]
Chr19:10257023 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2656G>C (p.Asp886His) single nucleotide variant Inborn genetic diseases [RCV003356974] Chr19:10148948 [GRCh38]
Chr19:10259624 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2347C>A (p.Pro783Thr) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003447422] Chr19:10149887 [GRCh38]
Chr19:10260563 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.184T>C (p.Cys62Arg) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003875357] Chr19:10180819 [GRCh38]
Chr19:10291495 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3949-19C>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003642368] Chr19:10138624 [GRCh38]
Chr19:10249300 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.1489A>C (p.Thr497Pro) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003447419] Chr19:10155856 [GRCh38]
Chr19:10266532 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1618T>G (p.Tyr540Asp) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003447420] Chr19:10154931 [GRCh38]
Chr19:10265607 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.2587-16A>G single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003872687] Chr19:10149033 [GRCh38]
Chr19:10259709 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2721-8T>C single nucleotide variant not provided [RCV003457014] Chr19:10146532 [GRCh38]
Chr19:10257208 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.3655A>G (p.Thr1219Ala) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003445347] Chr19:10140197 [GRCh38]
Chr19:10250873 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1106G>T (p.Cys369Phe) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003447418] Chr19:10159906 [GRCh38]
Chr19:10270582 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4773+57C>T single nucleotide variant not provided [RCV003423327] Chr19:10135679 [GRCh38]
Chr19:10246355 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.3140C>T (p.Thr1047Ile) single nucleotide variant not provided [RCV003406843] Chr19:10142197 [GRCh38]
Chr19:10252873 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.4881G>A (p.Glu1627=) single nucleotide variant not provided [RCV003423325] Chr19:10133685 [GRCh38]
Chr19:10244361 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.4773+72G>A single nucleotide variant not provided [RCV003423326] Chr19:10135664 [GRCh38]
Chr19:10246340 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.2729T>C (p.Val910Ala) single nucleotide variant DNMT1-related condition [RCV003414477] Chr19:10146516 [GRCh38]
Chr19:10257192 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1640T>A (p.Ile547Asn) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003447421] Chr19:10154909 [GRCh38]
Chr19:10265585 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1786T>C (p.Cys596Arg) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003447423] Chr19:10154632 [GRCh38]
Chr19:10265308 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.1008+7G>T single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003878356] Chr19:10162660 [GRCh38]
Chr19:10273336 [GRCh37]
Chr19:19p13.2
likely benign
NM_001130823.3(DNMT1):c.683G>A (p.Arg228Gln) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003878604] Chr19:10173871 [GRCh38]
Chr19:10284547 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001130823.3(DNMT1):c.208A>G (p.Lys70Glu) single nucleotide variant Hereditary sensory neuropathy-deafness-dementia syndrome [RCV003880013] Chr19:10180795 [GRCh38]
Chr19:10291471 [GRCh37]
Chr19:19p13.2
uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR152hsa-miR-152-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI20146264
MIR152hsa-miR-152-3pMirtarbaseexternal_infoLuciferase reporter assay//Microarray//qRT-PCR//WeFunctional MTI20841484
MIR152hsa-miR-152-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blot//Functional MTI20578129
MIR152hsa-miR-152-3pMirtarbaseexternal_infoImmunoblot//Immunoprecipitaion//Luciferase reporteFunctional MTI23125218
MIR152hsa-miR-152-3pOncomiRDBexternal_infoNANA23318422
MIR152hsa-miR-152-3pOncomiRDBexternal_infoNANA22935141
MIR152hsa-miR-152-3pOncomiRDBexternal_infoNANA20841484
MIR152hsa-miR-152-3pOncomiRDBexternal_infoNANA20578129
MIR152hsa-miR-152-3pOncomiRDBexternal_infoNANA20146264
MIR152hsa-miR-152-5pTarbaseexternal_infoReporter GenePOSITIVE
MIR152hsa-miR-152-5pTarbaseexternal_infoqPCRPOSITIVE
MIR152hsa-miR-152-5pTarbaseexternal_infoWesternblitPOSITIVE
MIR152hsa-miR-152-5pMirecordsexternal_infoNANA20146264
MIR342hsa-miR-342-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI21565830
MIR342hsa-miR-342-3pMirecordsexternal_info{changed}NA21565830
MIR342hsa-miR-342-3pOncomiRDBexternal_infoNANA21565830
MIR301Bhsa-miR-301bMirtarbaseexternal_infoLuciferase reporter assayNon-Functional MTI20146264
MIR126hsa-miR-126-3pMirtarbaseexternal_infoFlow//Luciferase reporter assay//Microarray//qRT-PFunctional MTI21165896
MIR126hsa-miR-126-3pMirtarbaseexternal_infoFlow//Luciferase reporter assay//qRT-PCR//Western Functional MTI21538319
MIR29B1hsa-miR-29b-3pMirtarbaseexternal_infoimmunoblot//Luciferase reporter assay//qRT-PCRNon-Functional MTI19211935
MIR140hsa-miR-140-5pMirtarbaseexternal_infoImmunohistochemistry//Luciferase reporter assay//MFunctional MTI22898998
MIR140hsa-miR-140-3pOncomiRDBexternal_infoNANA22898998
MIR185hsa-miR-185-5pOncomiRDBexternal_infoNANA23318422
MIR185hsa-miR-185-5pOncomiRDBexternal_infoNANA21962230
MIR29B2hsa-miR-29b-3pMirtarbaseexternal_infoimmunoblot//Luciferase reporter assay//qRT-PCRNon-Functional MTI19211935
MIR148Ahsa-miR-148a-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI20146264
MIR148Ahsa-miR-148a-3pMirtarbaseexternal_infoqRT-PCR//Luciferase reporter assay//Western blotFunctional MTI20483747
MIR148Ahsa-miR-148a-3pMirtarbaseexternal_infoFlow//qRT-PCR//Western blotFunctional MTI22167392
MIR148Ahsa-miR-148a-3pMirecordsexternal_infoNANA20146264
MIR148Ahsa-miR-148a-3pOncomiRDBexternal_infoNANA22935141
MIR185hsa-miR-185-5pMirtarbaseexternal_infoImmunoprecipitaion//Luciferase reporter assay//MicFunctional MTI21962230
MIR148Ahsa-miR-148a-3pOncomiRDBexternal_infoNANA20146264

Predicted Target Of
Summary Value
Count of predictions:9027
Count of miRNA genes:1353
Interacting mature miRNAs:1827
Transcripts:ENST00000340748, ENST00000359526, ENST00000540357, ENST00000585843, ENST00000585920, ENST00000586086, ENST00000586588, ENST00000586667, ENST00000586799, ENST00000586800, ENST00000586988, ENST00000587197, ENST00000587604, ENST00000588118, ENST00000588913, ENST00000588952, ENST00000589091, ENST00000589294, ENST00000589349, ENST00000589351, ENST00000589538, ENST00000590619, ENST00000591239, ENST00000591764, ENST00000591798, ENST00000592054, ENST00000592342, ENST00000592705, ENST00000593049
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D19S830  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371910,244,079 - 10,244,332UniSTSGRCh37
Build 361910,105,079 - 10,105,332RGDNCBI36
Celera1910,139,511 - 10,139,764RGD
Cytogenetic Map19p13.2UniSTS
HuRef199,824,727 - 9,824,980UniSTS
Stanford-G3 RH Map1958.0UniSTS
GeneMap99-GB4 RH Map1967.48UniSTS
Whitehead-RH Map1952.0UniSTS
NCBI RH Map1987.9UniSTS
GeneMap99-G3 RH Map1958.0UniSTS
RH18124  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371910,244,176 - 10,244,307UniSTSGRCh37
Build 361910,105,176 - 10,105,307RGDNCBI36
Celera1910,139,608 - 10,139,739RGD
Cytogenetic Map19p13.2UniSTS
HuRef199,824,824 - 9,824,955UniSTS
GeneMap99-GB4 RH Map1975.92UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2192 1643 1278 244 1397 123 3518 965 2175 190 1420 1586 137 1170 1974 6
Low 247 1348 448 380 554 342 839 1232 1559 229 40 27 38 1 34 814 2
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_028016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001130823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC020931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF180682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF290894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH008119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH009674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY927518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC092517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX379258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA653750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY245803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X63692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000340748   ⟹   ENSP00000345739
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,133,346 - 10,195,135 (-)Ensembl
RefSeq Acc Id: ENST00000359526   ⟹   ENSP00000352516
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,133,346 - 10,194,953 (-)Ensembl
RefSeq Acc Id: ENST00000585843
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,154,664 - 10,160,263 (-)Ensembl
RefSeq Acc Id: ENST00000585920
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,160,207 - 10,162,983 (-)Ensembl
RefSeq Acc Id: ENST00000586086
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,180,463 - 10,184,559 (-)Ensembl
RefSeq Acc Id: ENST00000586588
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,133,345 - 10,144,754 (-)Ensembl
RefSeq Acc Id: ENST00000586667
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,133,342 - 10,151,697 (-)Ensembl
RefSeq Acc Id: ENST00000586799   ⟹   ENSP00000467260
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,149,948 - 10,154,977 (-)Ensembl
RefSeq Acc Id: ENST00000586800   ⟹   ENSP00000465555
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,180,355 - 10,201,197 (-)Ensembl
RefSeq Acc Id: ENST00000586988   ⟹   ENSP00000464958
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,168,330 - 10,194,904 (-)Ensembl
RefSeq Acc Id: ENST00000587197
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,137,888 - 10,140,195 (-)Ensembl
RefSeq Acc Id: ENST00000587604
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,140,529 - 10,142,074 (-)Ensembl
RefSeq Acc Id: ENST00000588118   ⟹   ENSP00000465223
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,175,540 - 10,201,192 (-)Ensembl
RefSeq Acc Id: ENST00000588913   ⟹   ENSP00000467125
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,133,367 - 10,140,130 (-)Ensembl
RefSeq Acc Id: ENST00000588952   ⟹   ENSP00000467050
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,173,090 - 10,231,286 (-)Ensembl
RefSeq Acc Id: ENST00000589091
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,140,689 - 10,141,446 (-)Ensembl
RefSeq Acc Id: ENST00000589294
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,137,467 - 10,138,470 (-)Ensembl
RefSeq Acc Id: ENST00000589349
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,159,912 - 10,166,671 (-)Ensembl
RefSeq Acc Id: ENST00000589351
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,133,357 - 10,141,934 (-)Ensembl
RefSeq Acc Id: ENST00000589538
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,140,030 - 10,143,901 (-)Ensembl
RefSeq Acc Id: ENST00000590619   ⟹   ENSP00000468062
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,177,319 - 10,180,381 (-)Ensembl
RefSeq Acc Id: ENST00000591239
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,141,697 - 10,143,791 (-)Ensembl
RefSeq Acc Id: ENST00000591764
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,159,944 - 10,166,666 (-)Ensembl
RefSeq Acc Id: ENST00000591798
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,133,351 - 10,135,517 (-)Ensembl
RefSeq Acc Id: ENST00000592054   ⟹   ENSP00000468359
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,175,563 - 10,194,626 (-)Ensembl
RefSeq Acc Id: ENST00000592342   ⟹   ENSP00000465993
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,175,542 - 10,231,273 (-)Ensembl
RefSeq Acc Id: ENST00000592705   ⟹   ENSP00000466657
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,133,346 - 10,194,934 (-)Ensembl
RefSeq Acc Id: ENST00000593049
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,140,280 - 10,142,896 (-)Ensembl
RefSeq Acc Id: ENST00000676604
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,133,357 - 10,179,734 (-)Ensembl
RefSeq Acc Id: ENST00000676610   ⟹   ENSP00000504236
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,133,360 - 10,194,955 (-)Ensembl
RefSeq Acc Id: ENST00000676820
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,133,357 - 10,194,955 (-)Ensembl
RefSeq Acc Id: ENST00000676868
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,133,357 - 10,164,887 (-)Ensembl
RefSeq Acc Id: ENST00000677013   ⟹   ENSP00000503135
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,133,357 - 10,194,953 (-)Ensembl
RefSeq Acc Id: ENST00000677038
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,133,358 - 10,139,231 (-)Ensembl
RefSeq Acc Id: ENST00000677135
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,133,394 - 10,134,561 (-)Ensembl
RefSeq Acc Id: ENST00000677250   ⟹   ENSP00000502894
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,133,357 - 10,194,953 (-)Ensembl
RefSeq Acc Id: ENST00000677616   ⟹   ENSP00000503055
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,133,357 - 10,180,856 (-)Ensembl
RefSeq Acc Id: ENST00000677634   ⟹   ENSP00000504246
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,133,357 - 10,194,955 (-)Ensembl
RefSeq Acc Id: ENST00000677685   ⟹   ENSP00000503407
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,133,357 - 10,194,932 (-)Ensembl
RefSeq Acc Id: ENST00000677783
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,133,357 - 10,164,673 (-)Ensembl
RefSeq Acc Id: ENST00000677946   ⟹   ENSP00000504202
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,133,424 - 10,194,955 (-)Ensembl
RefSeq Acc Id: ENST00000678024
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,133,357 - 10,177,949 (-)Ensembl
RefSeq Acc Id: ENST00000678107
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,133,357 - 10,140,618 (-)Ensembl
RefSeq Acc Id: ENST00000678239
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,135,245 - 10,140,467 (-)Ensembl
RefSeq Acc Id: ENST00000678647
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,133,358 - 10,151,747 (-)Ensembl
RefSeq Acc Id: ENST00000678694
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,133,357 - 10,162,947 (-)Ensembl
RefSeq Acc Id: ENST00000678804   ⟹   ENSP00000503853
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,133,370 - 10,194,955 (-)Ensembl
RefSeq Acc Id: ENST00000678851
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,133,360 - 10,138,118 (-)Ensembl
RefSeq Acc Id: ENST00000678957
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,133,357 - 10,141,934 (-)Ensembl
RefSeq Acc Id: ENST00000679100
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,133,357 - 10,152,005 (-)Ensembl
RefSeq Acc Id: ENST00000679103   ⟹   ENSP00000503151
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,133,357 - 10,194,955 (-)Ensembl
RefSeq Acc Id: ENST00000679313   ⟹   ENSP00000504512
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,133,370 - 10,194,955 (-)Ensembl
RefSeq Acc Id: NM_001130823   ⟹   NP_001124295
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,133,346 - 10,194,953 (-)NCBI
GRCh371910,244,021 - 10,305,783 (-)NCBI
HuRef199,824,670 - 9,886,268 (-)ENTREZGENE
CHM1_11910,244,305 - 10,306,077 (-)NCBI
T2T-CHM13v2.01910,259,569 - 10,321,116 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001318730   ⟹   NP_001305659
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,133,346 - 10,194,953 (-)NCBI
CHM1_11910,244,305 - 10,305,996 (-)NCBI
T2T-CHM13v2.01910,259,569 - 10,321,116 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001318731   ⟹   NP_001305660
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,133,346 - 10,194,953 (-)NCBI
CHM1_11910,244,305 - 10,305,996 (-)NCBI
T2T-CHM13v2.01910,259,569 - 10,321,116 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001379   ⟹   NP_001370
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,133,346 - 10,194,953 (-)NCBI
GRCh371910,244,021 - 10,305,783 (-)NCBI
Build 361910,105,022 - 10,166,811 (-)NCBI Archive
HuRef199,824,670 - 9,886,268 (-)ENTREZGENE
CHM1_11910,244,305 - 10,306,077 (-)NCBI
T2T-CHM13v2.01910,259,569 - 10,321,116 (-)NCBI
Sequence:
RefSeq Acc Id: NP_001370   ⟸   NM_001379
- Peptide Label: isoform b
- UniProtKB: Q9ULA2 (UniProtKB/Swiss-Prot),   Q9UHG5 (UniProtKB/Swiss-Prot),   B7ZLW6 (UniProtKB/Swiss-Prot),   A0AV63 (UniProtKB/Swiss-Prot),   Q9UMZ6 (UniProtKB/Swiss-Prot),   P26358 (UniProtKB/Swiss-Prot),   Q59FP7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001124295   ⟸   NM_001130823
- Peptide Label: isoform a
- UniProtKB: Q59FP7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001305660   ⟸   NM_001318731
- Peptide Label: isoform d
- UniProtKB: I6L9H2 (UniProtKB/TrEMBL),   Q59FP7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001305659   ⟸   NM_001318730
- Peptide Label: isoform c
- UniProtKB: Q59FP7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000352516   ⟸   ENST00000359526
RefSeq Acc Id: ENSP00000464958   ⟸   ENST00000586988
RefSeq Acc Id: ENSP00000465555   ⟸   ENST00000586800
RefSeq Acc Id: ENSP00000467260   ⟸   ENST00000586799
RefSeq Acc Id: ENSP00000465223   ⟸   ENST00000588118
RefSeq Acc Id: ENSP00000467050   ⟸   ENST00000588952
RefSeq Acc Id: ENSP00000467125   ⟸   ENST00000588913
RefSeq Acc Id: ENSP00000468062   ⟸   ENST00000590619
RefSeq Acc Id: ENSP00000345739   ⟸   ENST00000340748
RefSeq Acc Id: ENSP00000466657   ⟸   ENST00000592705
RefSeq Acc Id: ENSP00000468359   ⟸   ENST00000592054
RefSeq Acc Id: ENSP00000465993   ⟸   ENST00000592342
RefSeq Acc Id: ENSP00000504236   ⟸   ENST00000676610
RefSeq Acc Id: ENSP00000503135   ⟸   ENST00000677013
RefSeq Acc Id: ENSP00000502894   ⟸   ENST00000677250
RefSeq Acc Id: ENSP00000504202   ⟸   ENST00000677946
RefSeq Acc Id: ENSP00000503055   ⟸   ENST00000677616
RefSeq Acc Id: ENSP00000504246   ⟸   ENST00000677634
RefSeq Acc Id: ENSP00000503407   ⟸   ENST00000677685
RefSeq Acc Id: ENSP00000503853   ⟸   ENST00000678804
RefSeq Acc Id: ENSP00000504512   ⟸   ENST00000679313
RefSeq Acc Id: ENSP00000503151   ⟸   ENST00000679103
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P26358-F1-model_v2 AlphaFold P26358 1-1616 view protein structure

Promoters
RGD ID:6795348
Promoter ID:HG_KWN:28830
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   NB4
Transcripts:UC002MNE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361910,111,896 - 10,112,677 (-)MPROMDB
RGD ID:6795346
Promoter ID:HG_KWN:28831
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:UC002MNF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361910,115,576 - 10,116,827 (-)MPROMDB
RGD ID:6795350
Promoter ID:HG_KWN:28832
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:UC002MNK.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361910,138,276 - 10,138,776 (-)MPROMDB
RGD ID:6795351
Promoter ID:HG_KWN:28834
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:UC002MNG.1,   UC002MNH.1,   UC002MNI.1,   UC002MNJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361910,166,389 - 10,166,889 (-)MPROMDB
RGD ID:7238447
Promoter ID:EPDNEW_H24969
Type:initiation region
Name:DNMT1_4
Description:DNA methyltransferase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24970  EPDNEW_H24971  EPDNEW_H24972  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,166,632 - 10,166,692EPDNEW
RGD ID:7238449
Promoter ID:EPDNEW_H24970
Type:initiation region
Name:DNMT1_3
Description:DNA methyltransferase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24969  EPDNEW_H24971  EPDNEW_H24972  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,180,374 - 10,180,434EPDNEW
RGD ID:7238451
Promoter ID:EPDNEW_H24971
Type:initiation region
Name:DNMT1_1
Description:DNA methyltransferase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24969  EPDNEW_H24970  EPDNEW_H24972  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,194,923 - 10,194,983EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2976 AgrOrtholog
COSMIC DNMT1 COSMIC
Ensembl Genes ENSG00000130816 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000340748 ENTREZGENE
  ENST00000340748.8 UniProtKB/Swiss-Prot
  ENST00000359526 ENTREZGENE
  ENST00000359526.9 UniProtKB/Swiss-Prot
  ENST00000586799.1 UniProtKB/TrEMBL
  ENST00000586800.5 UniProtKB/TrEMBL
  ENST00000586988.5 UniProtKB/TrEMBL
  ENST00000588118.5 UniProtKB/TrEMBL
  ENST00000588913.5 UniProtKB/TrEMBL
  ENST00000588952.5 UniProtKB/TrEMBL
  ENST00000590619.1 UniProtKB/TrEMBL
  ENST00000592054.5 UniProtKB/TrEMBL
  ENST00000592342.5 UniProtKB/TrEMBL
  ENST00000592705.5 UniProtKB/TrEMBL
  ENST00000676610.1 UniProtKB/TrEMBL
  ENST00000677013.1 UniProtKB/TrEMBL
  ENST00000677250.1 UniProtKB/TrEMBL
  ENST00000677616.1 UniProtKB/TrEMBL
  ENST00000677634.1 UniProtKB/TrEMBL
  ENST00000677685.1 UniProtKB/TrEMBL
  ENST00000677946.1 UniProtKB/TrEMBL
  ENST00000678804.1 UniProtKB/TrEMBL
  ENST00000679103.1 UniProtKB/TrEMBL
  ENST00000679313 ENTREZGENE
  ENST00000679313.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.10.2230 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.30.490 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.150 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA Methylase, subunit A, domain 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000130816 GTEx
HGNC ID HGNC:2976 ENTREZGENE
Human Proteome Map DNMT1 Human Proteome Map
InterPro BAH_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BAH_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C5_DNA_meth_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C5_MeTfrase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C5_meth_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cytosine_MeTrfase1_RFD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DMAP1-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNMT1-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM-dependent_MTases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_CXXC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1786 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1786 ENTREZGENE
OMIM 126375 OMIM
PANTHER CYTOSINE-SPECIFIC METHYLTRANSFERASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA (CYTOSINE-5)-METHYLTRANSFERASE 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN GVQW1-RELATED UniProtKB/TrEMBL
Pfam BAH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DMAP_binding UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_methylase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNMT1-RFD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-CXXC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27443 PharmGKB
PIRSF DNMT1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS C5METTRFRASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE BAH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C5_MTASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C5_MTASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DMAP1_BIND UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM_MT_C5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_CXXC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART BAH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DMAP_binding UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53335 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A7I2V2G5_HUMAN UniProtKB/TrEMBL
  A0A7I2V311_HUMAN UniProtKB/TrEMBL
  A0A7I2V3F8_HUMAN UniProtKB/TrEMBL
  A0A7I2V490_HUMAN UniProtKB/TrEMBL
  A0A7I2V5D0_HUMAN UniProtKB/TrEMBL
  A0A7I2V5F1_HUMAN UniProtKB/TrEMBL
  A0A7I2V5F6_HUMAN UniProtKB/TrEMBL
  A0A7I2YQA8_HUMAN UniProtKB/TrEMBL
  A0A7I2YQQ0_HUMAN UniProtKB/TrEMBL
  A0AV63 ENTREZGENE
  B7ZLW6 ENTREZGENE
  DNMT1_HUMAN UniProtKB/Swiss-Prot
  I6L9H2 ENTREZGENE, UniProtKB/TrEMBL
  K7EIZ6_HUMAN UniProtKB/TrEMBL
  K7EJL0_HUMAN UniProtKB/TrEMBL
  K7EKC3_HUMAN UniProtKB/TrEMBL
  K7ELB1_HUMAN UniProtKB/TrEMBL
  K7EMU8_HUMAN UniProtKB/TrEMBL
  K7ENQ6_HUMAN UniProtKB/TrEMBL
  K7ENW7_HUMAN UniProtKB/TrEMBL
  K7EP77_HUMAN UniProtKB/TrEMBL
  K7ER10_HUMAN UniProtKB/TrEMBL
  K7ERQ1_HUMAN UniProtKB/TrEMBL
  P26358 ENTREZGENE
  Q59FP7 ENTREZGENE, UniProtKB/TrEMBL
  Q9UHG5 ENTREZGENE
  Q9ULA2 ENTREZGENE
  Q9UMZ6 ENTREZGENE
UniProt Secondary A0AV63 UniProtKB/Swiss-Prot
  B7ZLW6 UniProtKB/Swiss-Prot
  Q9UHG5 UniProtKB/Swiss-Prot
  Q9ULA2 UniProtKB/Swiss-Prot
  Q9UMZ6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-08-09 DNMT1  DNA methyltransferase 1  DNMT1  DNA (cytosine-5-)-methyltransferase 1  Symbol and/or name change 5135510 APPROVED