TYMP (thymidine phosphorylase) - Rat Genome Database

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Gene: TYMP (thymidine phosphorylase) Homo sapiens
Analyze
Symbol: TYMP
Name: thymidine phosphorylase
RGD ID: 1313979
HGNC Page HGNC:3148
Description: Enables protein homodimerization activity and thymidine phosphorylase activity. Involved in several processes, including regulation of gastric motility; regulation of myelination; and regulation of transmission of nerve impulse. Predicted to be active in cytosol. Implicated in lung non-small cell carcinoma; mitochondrial DNA depletion syndrome 1; mitochondrial encephalomyopathy; pancreatic cancer; and transitional cell carcinoma. Biomarker of several diseases, including carcinoma (multiple); common bile duct neoplasm; ductal carcinoma in situ; female reproductive organ cancer (multiple); and germ cell cancer (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ECGF; ECGF1; gliostatin; hPD-ECGF; MEDPS1; MNGIE; MNGIE; MTDPS1; myoneurogastrointestinal encephalopathy syndrome; PDECGF; tdRPase; TP
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Squirrel
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382250,525,752 - 50,530,085 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2250,525,752 - 50,530,032 (-)EnsemblGRCh38hg38GRCh38
GRCh372250,964,181 - 50,968,514 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362249,311,047 - 49,315,321 (-)NCBINCBI36Build 36hg18NCBI36
Build 342249,254,324 - 49,258,599NCBI
Celera2234,840,208 - 34,844,541 (-)NCBICelera
Cytogenetic Map22q13.33ENTREZGENE
HuRef2233,855,199 - 33,859,532 (-)NCBIHuRef
CHM1_12250,922,918 - 50,927,220 (-)NCBICHM1_1
T2T-CHM13v2.02251,036,317 - 51,040,646 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
2-aminoadipic 2-oxoadipic aciduria  (IAGP)
autism spectrum disorder  (IAGP)
Breast Neoplasms  (IEP)
carcinoma  (EXP)
cervical squamous cell carcinoma  (IEP)
Choroidal Neovascularization  (ISO)
chromosome 22q13 duplication syndrome  (IAGP)
Colonic Neoplasms  (EXP)
Colorectal Neoplasms  (EXP)
common bile duct neoplasm  (IEP)
congenital disorder of glycosylation Ig  (IAGP)
COX deficiency, infantile mitochondrial myopathy  (IAGP)
cytochrome-c oxidase deficiency disease  (IAGP)
ductal carcinoma in situ  (IEP)
endometrial cancer  (IEP)
esophagus squamous cell carcinoma  (EXP)
gallbladder carcinoma  (IEP)
genetic disease  (IAGP)
hypomyelinating leukodystrophy 7  (IAGP)
intellectual disability  (IAGP)
lung non-small cell carcinoma  (IMP)
Lymphatic Metastasis  (IEP)
megaconial type congenital muscular dystrophy  (IAGP)
metachromatic leukodystrophy  (IAGP)
mitochondrial complex IV deficiency nuclear type 1  (IAGP)
mitochondrial complex IV deficiency nuclear type 2  (IAGP)
mitochondrial DNA depletion syndrome 1  (IAGP)
mitochondrial DNA depletion syndrome 8A  (IAGP)
mitochondrial DNA depletion syndrome 8b  (EXP)
Mitochondrial DNA Depletion Syndrome, MNGIE Type  (IAGP)
mitochondrial encephalomyopathy  (IAGP)
Myopia 6  (IAGP)
Neoplasm Metastasis  (EXP,IEP)
ovarian cancer  (IEP)
pancreatic cancer  (EXP,IMP)
pancreatic ductal carcinoma  (IEP)
Phelan-McDermid syndrome  (IAGP)
renal cell carcinoma  (IEP)
seminoma  (IEP)
spinal muscular atrophy  (IAGP)
Stomach Neoplasms  (EXP)
teratoma  (IEP)
transitional cell carcinoma  (IMP)
urinary bladder cancer  (EXP,IEP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dimethoxyphenol  (EXP)
2-amino-4,6-dinitrotoluene  (ISO)
2-deoxy-alpha-D-ribose 1-phosphate  (EXP)
2-deoxy-D-ribofuranose 1-phosphate  (EXP)
4'-epidoxorubicin  (EXP)
4,4'-sulfonyldiphenol  (EXP)
4-amino-2,6-dinitrotoluene  (ISO)
5-fluorouracil  (EXP,ISO)
5-formyltetrahydrofolic acid  (EXP)
acetamide  (ISO)
acetylleucyl-leucyl-norleucinal  (EXP)
acetylsalicylic acid  (EXP)
actinomycin D  (EXP)
antirheumatic drug  (EXP)
arsenous acid  (EXP)
Aurothioglucose  (EXP)
benzo[a]pyrene  (EXP)
beta-carotene  (ISO)
bisphenol A  (EXP,ISO)
bleomycin A2  (ISO)
cadmium dichloride  (EXP)
calcitriol  (EXP)
cannabidiol  (ISO)
chlorpyrifos  (ISO)
chromium(6+)  (EXP,ISO)
cisplatin  (EXP)
Cuprizon  (ISO)
curcumin  (EXP)
cycloheximide  (EXP)
cyclophosphamide  (EXP)
cyclosporin A  (EXP)
DDE  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
dibenz[a,h]anthracene  (ISO)
dioxygen  (EXP)
doxifluridine  (EXP,ISO)
doxorubicin  (EXP)
elemental selenium  (EXP)
fenthion  (ISO)
fipronil  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
fumonisin B1  (ISO)
furan  (ISO)
furfural  (EXP)
gemcitabine  (EXP)
glyphosate  (ISO)
gossypol  (EXP)
hydrazine  (ISO)
irinotecan  (EXP)
iron dichloride  (EXP)
ivermectin  (EXP)
Lasiocarpine  (EXP)
lipopolysaccharide  (EXP)
methidathion  (ISO)
mitomycin C  (EXP)
N-acetyl-L-cysteine  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
nitrofen  (ISO)
nocodazole  (EXP)
obeticholic acid  (EXP)
oxaliplatin  (EXP)
ozone  (EXP,ISO)
paclitaxel  (EXP)
paracetamol  (EXP,ISO)
pemetrexed  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
pirinixic acid  (ISO)
propiconazole  (ISO)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
Salinomycin  (EXP)
SB 203580  (EXP)
selenium atom  (EXP)
silicon dioxide  (EXP)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenite  (EXP)
sodium chloride  (EXP)
sodium dodecyl sulfate  (EXP)
stavudine  (EXP)
sulfasalazine  (EXP)
tanespimycin  (EXP)
temozolomide  (EXP)
tert-butyl hydroperoxide  (ISO)
testosterone  (EXP)
thioacetamide  (ISO)
thymidine  (EXP)
thymine  (EXP)
titanium dioxide  (ISO)
trichloroethene  (ISO)
triclosan  (EXP)
triphenyl phosphate  (EXP)
valproic acid  (EXP)
vincristine  (EXP)
vitamin E  (EXP)
zalcitabine  (EXP)
zidovudine  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytosol  (IBA,TAS)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal cramps  (IAGP)
Abdominal distention  (IAGP)
Abdominal pain  (IAGP)
Abnormal cell morphology  (IAGP)
Abnormal cerebral white matter morphology  (IAGP)
Abnormality of the extraocular muscles  (IAGP)
Abnormality of the gastrointestinal tract  (IAGP)
Abnormality of the hand  (IAGP)
Abnormality of the mitochondrion  (IAGP)
Allodynia  (IAGP)
Anemia  (IAGP)
Areflexia  (IAGP)
Areflexia of lower limbs  (IAGP)
Atrophic muscularis propria  (IAGP)
Autistic behavior  (IAGP)
Autosomal recessive inheritance  (IAGP)
Cachexia  (IAGP)
Cirrhosis  (IAGP)
Colonic diverticula  (IAGP)
Constipation  (IAGP)
Cytochrome C oxidase-negative muscle fibers  (IAGP)
Death in early adulthood  (IAGP)
Decreased motor nerve conduction velocity  (IAGP)
Decreased muscle mass  (IAGP)
Decreased number of large peripheral myelinated nerve fibers  (IAGP)
Decreased sensory nerve conduction velocity  (IAGP)
Dementia  (IAGP)
Demyelinating peripheral neuropathy  (IAGP)
Diarrhea  (IAGP)
Diplopia  (IAGP)
Distal amyotrophy  (IAGP)
Distal muscle weakness  (IAGP)
Distal sensory impairment  (IAGP)
Dysphagia  (IAGP)
Early satiety  (IAGP)
Easy fatigability  (IAGP)
Elevated circulating deoxyuridine concentration  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
Elevated circulating thymidine concentration  (IAGP)
External ophthalmoplegia  (IAGP)
Foot dorsiflexor weakness  (IAGP)
Gastroesophageal reflux  (IAGP)
Gastrointestinal dysmotility  (IAGP)
Gastroparesis  (IAGP)
Hyperactive bowel sounds  (IAGP)
Hyperalaninemia  (IAGP)
Hypergonadotropic hypogonadism  (IAGP)
Hypoesthesia  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypointensity of cerebral white matter on MRI  (IAGP)
Increased CSF protein concentration  (IAGP)
Intellectual disability  (IAGP)
Intermittent diarrhea  (IAGP)
Intestinal perforation  (IAGP)
Intestinal pseudo-obstruction  (IAGP)
Juvenile onset  (IAGP)
Lactic acidosis  (IAGP)
Leukoencephalopathy  (IAGP)
Macrovesicular hepatic steatosis  (IAGP)
Malabsorption  (IAGP)
Malnutrition  (IAGP)
Mitochondrial myopathy  (IAGP)
Multiple mitochondrial DNA deletions  (IAGP)
Nausea  (IAGP)
Ophthalmoparesis  (IAGP)
Paresthesia  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Peripheral neuropathy  (IAGP)
Poor appetite  (IAGP)
Progressive  (IAGP)
Progressive external ophthalmoplegia  (IAGP)
Ptosis  (IAGP)
Ragged-red muscle fibers  (IAGP)
Reduced tissue thymidine phosphorylase activity  (IAGP)
Sensorimotor neuropathy  (IAGP)
Sensorineural hearing impairment  (IAGP)
Slender build  (IAGP)
Small intestinal dysmotility  (IAGP)
Spinal muscular atrophy  (IAGP)
Subsarcolemmal accumulations of abnormally shaped mitochondria  (IAGP)
Vomiting  (IAGP)
Weight loss  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. The role of thymidine phosphorylase and thrombospondin-1 in angiogenesis and progression of intrahepatic cholangiocarcinoma. Aishima S, etal., Int J Surg Pathol. 2002 Jan;10(1):47-56.
2. Cooperative stimulation of vascular endothelial growth factor expression by hypoxia and reactive oxygen species: the effect of targeting vascular endothelial growth factor and oxidative stress in an orthotopic xenograft model of bladder carcinoma. Brown NS, etal., Br J Cancer. 2005 May 9;92(9):1696-701.
3. Up-regulation of thymidine phosphorylase expression is associated with a discrete pattern of angiogenesis in ductal carcinomas in situ of the breast. Engels K, etal., J Pathol. 1997 Aug;182(4):414-20.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. Role of tumor angiogenesis in gallbladder carcinoma: with special reference to thymidine phosphorylase. Harino Y, etal., Int J Clin Oncol. 2008 Oct;13(5):452-7. Epub 2008 Oct 23.
6. Prognostic value of thymidine phosphorylase expression for pancreatic cancer. Hong SP, etal., Hepatogastroenterology. 2009 Jul-Aug;56(93):1178-82.
7. Angiogenesis and lymphangiogenesis in stage 1 germ cell tumours of the testis. Jones A, etal., BJU Int. 2000 Jul;86(1):80-6.
8. The activity of thymidine phosphorylase correlates with tumor size and lymph nodes status in breast carcinoma. Kubiak R, etal., Z Naturforsch C. 1999 Dec;54(12):1096-102.
9. Antiangiogenic and antitumor activity of 6-(2-aminoethyl)amino-5-chlorouracil, a novel small-molecule inhibitor of thymidine phosphorylase, in combination with the vascular endothelial growth factor-trap. Lu H, etal., Clin Cancer Res. 2009 Aug 15;15(16):5136-44. Epub 2009 Aug 11.
10. A role of thymidine phosphorylase and P53 tissue protein expression in biology of endometrial cancer. Mazurek A, etal., Neoplasma. 2008;55(3):261-5.
11. The activity of thymidine phosphorylase as a new ovarian tumor marker. Miszczak-Zaborska E, etal., Gynecol Oncol. 2004 Jul;94(1):86-92.
12. Gan to kagaku ryoho. Cancer & chemotherapy Morimoto Y, etal., Gan To Kagaku Ryoho. 2004 Dec;31(13):2195-8.
13. Expression of thymidine phosphorylase as an effect prediction factor for uterine cervical squamous cell carcinoma after radiotherapy: an immunohistochemical study. Nakashima M, etal., Int J Gynecol Cancer. 2006 May-Jun;16(3):1309-13.
14. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Nishino I, etal., Science. 1999 Jan 29;283(5402):689-92.
15. The expression of thymidine phosphorylase is a prognostic predictor for the intravesical recurrence of superficial bladder cancer. Nonomura N, etal., Int J Clin Oncol. 2006 Aug;11(4):297-302.
16. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
17. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
18. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
19. Thymidine phosphorylase expression is associated with time to progression in patients receiving low-dose, docetaxel-modulated capecitabine for metastatic breast cancer. Puglisi F, etal., Ann Oncol. 2008 Apr 25;.
20. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
21. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
22. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
23. High levels of thymidine phosphorylase as an independent prognostic factor in renal cell carcinoma. Takayama T, etal., Jpn J Clin Oncol. 2006 Sep;36(9):564-9. Epub 2006 Jul 22.
24. Thymidine phosphorylase levels as a prognostic factor in renal cell carcinoma. Wada S, etal., BJU Int. 2003 Jan;91(1):105-8.
25. Subconjunctival doxifluridine administration suppresses rat choroidal neovascularization through activated thymidine phosphorylase. Yanagi Y, etal., Invest Ophthalmol Vis Sci. 2003 Feb;44(2):751-4.
26. [Relationships among the expression of thymidylate synthase, thymidine phosphorylase, and dihydropyrimidine dehydrogenase and the prognosis of breast cancer] Yu ZG, etal., Zhonghua Yi Xue Za Zhi. 2006 Jun 13;86(22):1558-63.
27. Significance of thymidine phosphorylase/platelet-derived endothelial cell growth factor in carcinoma of the papilla of Vater. Zhao B, etal., Jpn J Cancer Res. 2000 Mar;91(3):331-6.
Additional References at PubMed
PMID:1400349   PMID:1570012   PMID:1590793   PMID:1733667   PMID:2005900   PMID:2328255   PMID:2467210   PMID:2823522   PMID:3549724   PMID:7284378   PMID:8038210   PMID:8125298  
PMID:8164833   PMID:8889548   PMID:9626068   PMID:9857235   PMID:10472757   PMID:10493829   PMID:11041061   PMID:11297264   PMID:11733540   PMID:11920479   PMID:11925935   PMID:11957147  
PMID:11986782   PMID:11992400   PMID:12174926   PMID:12177387   PMID:12429983   PMID:12466967   PMID:12477932   PMID:12520153   PMID:12565868   PMID:12639965   PMID:12684660   PMID:12813027  
PMID:12820387   PMID:12824363   PMID:12918063   PMID:14571777   PMID:14702039   PMID:14702180   PMID:14719072   PMID:14966914   PMID:15069545   PMID:15123637   PMID:15201953   PMID:15254700  
PMID:15289834   PMID:15374822   PMID:15375582   PMID:15474072   PMID:15489334   PMID:15571233   PMID:15571260   PMID:15571282   PMID:15607208   PMID:15756429   PMID:15756433   PMID:15781193  
PMID:15879300   PMID:15978330   PMID:16132996   PMID:16198108   PMID:16317434   PMID:16341674   PMID:16369467   PMID:16458893   PMID:16685420   PMID:16798057   PMID:16803458   PMID:16969493  
PMID:17103175   PMID:17437622   PMID:17497037   PMID:17681069   PMID:17688376   PMID:17854149   PMID:17923735   PMID:17999375   PMID:18019682   PMID:18029348   PMID:18341568   PMID:18359286  
PMID:18476626   PMID:18559600   PMID:18725595   PMID:18765464   PMID:18848756   PMID:18922971   PMID:18955007   PMID:18986516   PMID:19023133   PMID:19056268   PMID:19093516   PMID:19295266  
PMID:19330019   PMID:19344718   PMID:19555658   PMID:19654105   PMID:19862010   PMID:19913121   PMID:20112501   PMID:20139978   PMID:20151198   PMID:20301358   PMID:20355241   PMID:20360068  
PMID:20372793   PMID:20488166   PMID:20585803   PMID:20628086   PMID:20714877   PMID:20837458   PMID:20843780   PMID:20955617   PMID:21068389   PMID:21222488   PMID:21252618   PMID:21362301  
PMID:21386840   PMID:21586171   PMID:21809665   PMID:21837996   PMID:21873635   PMID:22321252   PMID:22340655   PMID:22480737   PMID:22534375   PMID:22593457   PMID:22595739   PMID:22610353  
PMID:22618301   PMID:22668509   PMID:22751949   PMID:22752215   PMID:22863883   PMID:23160694   PMID:23222517   PMID:23813863   PMID:24024441   PMID:24027750   PMID:24448160   PMID:24455740  
PMID:24617035   PMID:24798152   PMID:24816252   PMID:24819505   PMID:25027354   PMID:25304388   PMID:25416956   PMID:26186194   PMID:26344197   PMID:26617778   PMID:26676225   PMID:26676887  
PMID:26760575   PMID:26871637   PMID:27127154   PMID:27283904   PMID:27532673   PMID:27559096   PMID:27658717   PMID:28514442   PMID:28530649   PMID:30009671   PMID:30642883   PMID:30809309  
PMID:30849523   PMID:31366497   PMID:31409639   PMID:31594818   PMID:31980649   PMID:32296183   PMID:32476180   PMID:32513696   PMID:33825174   PMID:33961781   PMID:34709727   PMID:34732716  
PMID:35256949   PMID:35341481   PMID:35567733   PMID:35831314   PMID:37603049   PMID:38043946  


Genomics

Comparative Map Data
TYMP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382250,525,752 - 50,530,085 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2250,525,752 - 50,530,032 (-)EnsemblGRCh38hg38GRCh38
GRCh372250,964,181 - 50,968,514 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362249,311,047 - 49,315,321 (-)NCBINCBI36Build 36hg18NCBI36
Build 342249,254,324 - 49,258,599NCBI
Celera2234,840,208 - 34,844,541 (-)NCBICelera
Cytogenetic Map22q13.33ENTREZGENE
HuRef2233,855,199 - 33,859,532 (-)NCBIHuRef
CHM1_12250,922,918 - 50,927,220 (-)NCBICHM1_1
T2T-CHM13v2.02251,036,317 - 51,040,646 (-)NCBIT2T-CHM13v2.0
Tymp
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391589,255,834 - 89,261,282 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1589,256,134 - 89,261,242 (-)EnsemblGRCm39 Ensembl
GRCm381589,371,631 - 89,377,036 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1589,371,931 - 89,377,039 (-)EnsemblGRCm38mm10GRCm38
MGSCv371589,202,362 - 89,207,467 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361589,199,698 - 89,204,803 (-)NCBIMGSCv36mm8
Celera1591,501,072 - 91,506,177 (-)NCBICelera
Cytogenetic Map15E3NCBI
cM Map1544.86NCBI
Tymp
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87122,318,396 - 122,323,716 (-)NCBIGRCr8
mRatBN7.27120,438,768 - 120,444,088 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7120,438,770 - 120,443,874 (-)EnsemblmRatBN7.2 Ensembl
mRatBN7.2 Ensembl7120,438,125 - 120,447,429 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7122,190,265 - 122,195,391 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07124,416,419 - 124,421,545 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07124,379,128 - 124,384,252 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07130,342,481 - 130,347,845 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7130,342,483 - 130,347,587 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07130,027,662 - 130,033,050 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47127,666,518 - 127,671,624 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17127,700,749 - 127,705,854 (-)NCBI
Celera7116,911,732 - 116,916,838 (-)NCBICelera
Cytogenetic Map7q34NCBI
Tymp
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541333,505,446 - 33,508,748 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541333,505,424 - 33,509,095 (-)NCBIChiLan1.0ChiLan1.0
TYMP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22360,443,429 - 60,450,209 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12263,136,432 - 63,140,968 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02230,772,088 - 30,776,618 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12249,883,129 - 49,886,996 (-)NCBIpanpan1.1PanPan1.1panPan2
Tymp
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945315,033 - 319,093 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936629315,610 - 319,076 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936629315,609 - 320,356 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TYMP
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11932,997,337 - 33,001,558 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1932,997,304 - 33,001,215 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604592,341,070 - 92,345,265 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tymp
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624752252,937 - 256,244 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624752251,670 - 256,243 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TYMP
850 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001953.5(TYMP):c.1410dup (p.Ser471fs) duplication Mitochondrial DNA depletion syndrome 1 [RCV000018137] Chr22:50525808..50525809 [GRCh38]
Chr22:50964237..50964238 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.516+2T>C single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000018134] Chr22:50528510 [GRCh38]
Chr22:50966939 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.665A>G (p.Lys222Arg) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000018136]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001831582]|not provided [RCV000497545] Chr22:50527265 [GRCh38]
Chr22:50965694 [GRCh37]
Chr22:22q13.33
pathogenic|likely pathogenic
NM_001953.5(TYMP):c.1160-1G>C single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000018138] Chr22:50526142 [GRCh38]
Chr22:50964571 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.1187CGCTGG[1] (p.Ala398_Leu399del) microsatellite Mitochondrial DNA depletion syndrome 1 [RCV000018139] Chr22:50526103..50526108 [GRCh38]
Chr22:50964532..50964537 [GRCh37]
Chr22:22q13.33
pathogenic|likely pathogenic
NM_001953.5(TYMP):c.215-1G>C single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000018142]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001276279]|not provided [RCV000599020] Chr22:50529339 [GRCh38]
Chr22:50967768 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.928+3G>A single nucleotide variant not specified [RCV000603169] Chr22:50526573 [GRCh38]
Chr22:50965002 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.866A>C (p.Glu289Ala) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000018133]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001276276]|not provided [RCV000498727] Chr22:50526638 [GRCh38]
Chr22:50965067 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000018135]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001276278]|not provided [RCV001049989] Chr22:50528595 [GRCh38]
Chr22:50967024 [GRCh37]
Chr22:22q13.33
pathogenic|likely pathogenic
NM_001953.5(TYMP):c.457G>A (p.Gly153Ser) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000018140]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001826476]|not provided [RCV001052862] Chr22:50528571 [GRCh38]
Chr22:50967000 [GRCh37]
Chr22:22q13.33
pathogenic|likely pathogenic
NM_001953.5(TYMP):c.131G>A (p.Arg44Gln) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000018141]|not provided [RCV002513094] Chr22:50529579 [GRCh38]
Chr22:50968008 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.622G>A (p.Val208Met) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000018143]|not provided [RCV000199543] Chr22:50527612 [GRCh38]
Chr22:50966041 [GRCh37]
Chr22:22q13.33
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001953.5(TYMP):c.931G>C (p.Gly311Arg) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000018144] Chr22:50526474 [GRCh38]
Chr22:50964903 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.605G>C (p.Arg202Thr) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000018145]|not provided [RCV003228895] Chr22:50527629 [GRCh38]
Chr22:50966058 [GRCh37]
Chr22:22q13.33
pathogenic|likely pathogenic
NM_001953.5(TYMP):c.854T>C (p.Leu285Pro) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000018146]|not provided [RCV003556042]|not specified [RCV003330395] Chr22:50526650 [GRCh38]
Chr22:50965079 [GRCh37]
Chr22:22q13.33
pathogenic|likely pathogenic|uncertain significance
GRCh38/hg38 22q13.31-13.33(chr22:45239376-50739836)x1 copy number loss See cases [RCV000050935] Chr22:45239376..50739836 [GRCh38]
Chr22:45635257..51178264 [GRCh37]
Chr22:44013921..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:47705262-50739836)x1 copy number loss See cases [RCV000050848] Chr22:47705262..50739836 [GRCh38]
Chr22:48101011..51178264 [GRCh37]
Chr22:46479675..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42138114-50739836)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|See cases [RCV000051370] Chr22:42138114..50739836 [GRCh38]
Chr22:42513525..51178264 [GRCh37]
Chr22:40843471..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1 copy number loss See cases [RCV000051371] Chr22:42433752..50738932 [GRCh38]
Chr22:42829758..51177360 [GRCh37]
Chr22:41159702..49524226 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1 copy number loss See cases [RCV000051407] Chr22:42826246..50739836 [GRCh38]
Chr22:43222252..51178264 [GRCh37]
Chr22:41552196..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43807366-50739836)x1 copy number loss See cases [RCV000051408] Chr22:43807366..50739836 [GRCh38]
Chr22:44203246..51178264 [GRCh37]
Chr22:42534579..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43993654-50739977)x1 copy number loss See cases [RCV000051409] Chr22:43993654..50739977 [GRCh38]
Chr22:44389534..51178405 [GRCh37]
Chr22:42720867..49525271 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44740175-50739836)x1 copy number loss See cases [RCV000051410] Chr22:44740175..50739836 [GRCh38]
Chr22:45136055..51178264 [GRCh37]
Chr22:43514719..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:45648256-50739836)x1 copy number loss See cases [RCV000051411] Chr22:45648256..50739836 [GRCh38]
Chr22:46044136..51178264 [GRCh37]
Chr22:44422800..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:47122613-50739836)x1 copy number loss See cases [RCV000051412] Chr22:47122613..50739836 [GRCh38]
Chr22:47518509..51178264 [GRCh37]
Chr22:45897173..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:47234701-50739836)x1 copy number loss See cases [RCV000051413] Chr22:47234701..50739836 [GRCh38]
Chr22:47630451..51178264 [GRCh37]
Chr22:46009115..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48138038-50739836)x1 copy number loss See cases [RCV000051440] Chr22:48138038..50739836 [GRCh38]
Chr22:48533855..51178264 [GRCh37]
Chr22:46912519..49525130 [NCBI36]
Chr22:22q13.32-13.33
pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48423668-50739836)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051441]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051441]|See cases [RCV000051441] Chr22:48423668..50739836 [GRCh38]
Chr22:48819480..51178264 [GRCh37]
Chr22:47198144..49525130 [NCBI36]
Chr22:22q13.32-13.33
pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48654672-50739836)x1 copy number loss See cases [RCV000051442] Chr22:48654672..50739836 [GRCh38]
Chr22:49050484..51178264 [GRCh37]
Chr22:47436920..49525130 [NCBI36]
Chr22:22q13.32-13.33
pathogenic
GRCh38/hg38 22q13.33(chr22:49395349-50738932)x1 copy number loss See cases [RCV000051443] Chr22:49395349..50738932 [GRCh38]
Chr22:49788999..51177360 [GRCh37]
Chr22:48175003..49524226 [NCBI36]
Chr22:22q13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46065705-50739836)x1 copy number loss See cases [RCV000051098] Chr22:46065705..50739836 [GRCh38]
Chr22:46461585..51178264 [GRCh37]
Chr22:44840249..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 copy number gain See cases [RCV000051684] Chr22:37061769..50738932 [GRCh38]
Chr22:37457809..51177360 [GRCh37]
Chr22:35787755..49524226 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3 copy number gain See cases [RCV000051686] Chr22:42599757..50725241 [GRCh38]
Chr22:42995763..51163669 [GRCh37]
Chr22:41325707..49510535 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3 copy number gain See cases [RCV000051687] Chr22:42653747..50739836 [GRCh38]
Chr22:43049753..51178264 [GRCh37]
Chr22:41379697..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44700812-50739836)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]|See cases [RCV000051688] Chr22:44700812..50739836 [GRCh38]
Chr22:45096692..51178264 [GRCh37]
Chr22:43475356..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44811200-50739836)x3 copy number gain See cases [RCV000051689] Chr22:44811200..50739836 [GRCh38]
Chr22:45207080..51178264 [GRCh37]
Chr22:43585744..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
GRCh38/hg38 22q13.33(chr22:50368887-50599372)x3 copy number gain See cases [RCV000052894] Chr22:50368887..50599372 [GRCh38]
Chr22:50807316..51037801 [GRCh37]
Chr22:49154182..49384667 [NCBI36]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu) single nucleotide variant Fatal Infantile Cardioencephalomyopathy [RCV000323507]|Mitochondrial DNA depletion syndrome 1 [RCV000403000]|Spinal muscular atrophy [RCV001274279]|not provided [RCV000676456]|not specified [RCV000118807] Chr22:50525807 [GRCh38]
Chr22:50964236 [GRCh37]
Chr22:22q13.33
benign|likely benign|conflicting interpretations of pathogenicity
NM_001953.5(TYMP):c.972C>T (p.Ala324=) single nucleotide variant Fatal Infantile Cardioencephalomyopathy [RCV000278985]|Mitochondrial DNA depletion syndrome 1 [RCV000279726]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000338776]|Spinal muscular atrophy [RCV001276275]|not provided [RCV000676461]|not specified [RCV000118808] Chr22:50526433 [GRCh38]
Chr22:50964862 [GRCh37]
Chr22:22q13.33
benign|likely benign|conflicting interpretations of pathogenicity
NM_001953.5(TYMP):c.204C>T (p.Gly68=) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV001145865]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001276280]|not provided [RCV000958301]|not specified [RCV000126196] Chr22:50529506 [GRCh38]
Chr22:50967935 [GRCh37]
Chr22:22q13.33
benign
NM_001953.5(TYMP):c.214+13G>A single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000371647]|not provided [RCV002055631]|not specified [RCV000126197] Chr22:50529483 [GRCh38]
Chr22:50529483..50529484 [GRCh38]
Chr22:50967912 [GRCh37]
Chr22:50967912..50967913 [GRCh37]
Chr22:22q13.33
benign|uncertain significance
NM_001953.5(TYMP):c.242G>A (p.Arg81Gln) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV001145864]|TYMP-related disorder [RCV003925249]|not provided [RCV000513951]|not specified [RCV000126198] Chr22:50529311 [GRCh38]
Chr22:50967740 [GRCh37]
Chr22:22q13.33
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001953.5(TYMP):c.831G>A (p.Leu277=) single nucleotide variant Fatal Infantile Cardioencephalomyopathy [RCV000402916]|Mitochondrial DNA depletion syndrome 1 [RCV000406103]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000348879]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001276277]|not provided [RCV000676462]|not specified [RCV000126199] Chr22:50526673 [GRCh38]
Chr22:50965102 [GRCh37]
Chr22:22q13.33
benign|likely benign|conflicting interpretations of pathogenicity
NM_001953.5(TYMP):c.1074A>G (p.Arg358=) single nucleotide variant not provided [RCV000676460]|not specified [RCV000126201] Chr22:50526331 [GRCh38]
Chr22:50964760 [GRCh37]
Chr22:22q13.33
benign|likely benign
NM_001953.5(TYMP):c.1159+12G>A single nucleotide variant not provided [RCV002055632]|not specified [RCV000126202] Chr22:50526234 [GRCh38]
Chr22:50964663 [GRCh37]
Chr22:22q13.33
benign
NM_001953.5(TYMP):c.1284T>A (p.Gly428=) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV000403230]|Mitochondrial DNA depletion syndrome 1 [RCV000297818]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000360806]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001274281]|not provided [RCV000676458]|not specified [RCV000126203] Chr22:50526017 [GRCh38]
Chr22:50964446 [GRCh37]
Chr22:22q13.33
benign
NM_001953.5(TYMP):c.1290G>A (p.Arg430=) single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001831922]|not provided [RCV000727125]|not specified [RCV000126204] Chr22:50526011 [GRCh38]
Chr22:50964440 [GRCh37]
Chr22:22q13.33
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001953.5(TYMP):c.1393G>A (p.Ala465Thr) single nucleotide variant Fatal Infantile Cardioencephalomyopathy [RCV000373441]|Mitochondrial DNA depletion syndrome 1 [RCV000306032]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001274280]|TYMP-related disorder [RCV003975113]|not provided [RCV000676457]|not specified [RCV000126205] Chr22:50525826 [GRCh38]
Chr22:50964255 [GRCh37]
Chr22:22q13.33
benign|likely benign|conflicting interpretations of pathogenicity
NM_001953.5(TYMP):c.*3C>T single nucleotide variant Fatal Infantile Cardioencephalomyopathy [RCV000344723]|Mitochondrial DNA depletion syndrome 1 [RCV001145762]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000392548]|not specified [RCV000126207] Chr22:50525767 [GRCh38]
Chr22:50964196 [GRCh37]
Chr22:22q13.33
benign|uncertain significance
NM_001953.5(TYMP):c.*10G>A single nucleotide variant Fatal Infantile Cardioencephalomyopathy [RCV000388646]|Mitochondrial DNA depletion syndrome 1 [RCV000289696]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000334196]|not specified [RCV000126208] Chr22:50525760 [GRCh38]
Chr22:50964189 [GRCh37]
Chr22:22q13.33
benign|uncertain significance
Single allele deletion Intellectual disability [RCV001293376] Chr22:42333802..51195728 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
NM_001953.5(TYMP):c.355G>A (p.Gly119Arg) single nucleotide variant not provided [RCV000171358]|not specified [RCV004526624] Chr22:50529198 [GRCh38]
Chr22:50967627 [GRCh37]
Chr22:22q13.33
likely pathogenic|uncertain significance
GRCh38/hg38 22q13.33(chr22:49378128-50739836)x1 copy number loss See cases [RCV000133859] Chr22:49378128..50739836 [GRCh38]
Chr22:49774048..51178264 [GRCh37]
Chr22:48160052..49525130 [NCBI36]
Chr22:22q13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44606363-50739836)x1 copy number loss See cases [RCV000133865] Chr22:44606363..50739836 [GRCh38]
Chr22:45002243..51178264 [GRCh37]
Chr22:43380907..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.33(chr22:49315518-50739836)x1 copy number loss See cases [RCV000133707] Chr22:49315518..50739836 [GRCh38]
Chr22:49711443..51178264 [GRCh37]
Chr22:48097447..49525130 [NCBI36]
Chr22:22q13.33
pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3 copy number gain See cases [RCV000134513] Chr22:40202014..50735806 [GRCh38]
Chr22:40598018..51174234 [GRCh37]
Chr22:38927964..49521100 [NCBI36]
Chr22:22q13.1-13.33
pathogenic
GRCh38/hg38 22q13.33(chr22:49504768-50780581)x1 copy number loss See cases [RCV000135691] Chr22:49504768..50780581 [GRCh38]
Chr22:49898417..51203353 [GRCh37]
Chr22:48284421..49565875 [NCBI36]
Chr22:22q13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43902561-50739836)x1 copy number loss See cases [RCV000135444] Chr22:43902561..50739836 [GRCh38]
Chr22:44298441..51178264 [GRCh37]
Chr22:42629774..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46919818-50739836)x1 copy number loss See cases [RCV000135615] Chr22:46919818..50739836 [GRCh38]
Chr22:47315714..51178264 [GRCh37]
Chr22:45694378..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.33(chr22:50055303-50677724)x3 copy number gain See cases [RCV000136106] Chr22:50055303..50677724 [GRCh38]
Chr22:50493732..51116152 [GRCh37]
Chr22:48835859..49463018 [NCBI36]
Chr22:22q13.33
uncertain significance
GRCh38/hg38 22q13.31-13.33(chr22:44797239-50739836)x3 copy number gain See cases [RCV000136573] Chr22:44797239..50739836 [GRCh38]
Chr22:45193119..51178264 [GRCh37]
Chr22:43571783..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43992879-50683114)x3 copy number gain See cases [RCV000136124] Chr22:43992879..50683114 [GRCh38]
Chr22:44388759..51121542 [GRCh37]
Chr22:42720092..49468408 [NCBI36]
Chr22:22q13.31-13.33
benign
GRCh38/hg38 22q13.33(chr22:50274967-50739836)x3 copy number gain See cases [RCV000136874] Chr22:50274967..50739836 [GRCh38]
Chr22:50713396..51178264 [GRCh37]
Chr22:49055523..49525130 [NCBI36]
Chr22:22q13.33
benign
GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1 copy number loss See cases [RCV000136921] Chr22:41871143..50739836 [GRCh38]
Chr22:42267147..51178264 [GRCh37]
Chr22:40597093..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48614336-50739836)x1 copy number loss See cases [RCV000136941] Chr22:48614336..50739836 [GRCh38]
Chr22:49010148..51178264 [GRCh37]
Chr22:47396711..49525130 [NCBI36]
Chr22:22q13.32-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3 copy number gain See cases [RCV000137136] Chr22:42710276..50739836 [GRCh38]
Chr22:43106282..51178264 [GRCh37]
Chr22:41436226..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44764289-50739836)x1 copy number loss See cases [RCV000136894] Chr22:44764289..50739836 [GRCh38]
Chr22:45160169..51178264 [GRCh37]
Chr22:43538833..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48500344-50780581)x1 copy number loss See cases [RCV000137377] Chr22:48500344..50780581 [GRCh38]
Chr22:48896156..51203353 [GRCh37]
Chr22:47274820..49565875 [NCBI36]
Chr22:22q13.32-13.33
pathogenic
GRCh38/hg38 22q13.33(chr22:50149563-50780522)x1 copy number loss See cases [RCV000140089] Chr22:50149563..50780522 [GRCh38]
Chr22:50587992..51218950 [GRCh37]
Chr22:48930119..49565816 [NCBI36]
Chr22:22q13.33
pathogenic
GRCh38/hg38 22q13.33(chr22:49535113-50780581)x1 copy number loss See cases [RCV000139655] Chr22:49535113..50780581 [GRCh38]
Chr22:49928762..51203353 [GRCh37]
Chr22:48314766..49565875 [NCBI36]
Chr22:22q13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1 copy number loss See cases [RCV000141415] Chr22:42837094..50735806 [GRCh38]
Chr22:43233100..51174234 [GRCh37]
Chr22:41563044..49521100 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:43187980-50745444)x1 copy number loss See cases [RCV000140901] Chr22:43187980..50745444 [GRCh38]
Chr22:43583986..51183872 [GRCh37]
Chr22:41913930..49530738 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46732445-50780522)x1 copy number loss See cases [RCV000140772] Chr22:46732445..50780522 [GRCh38]
Chr22:47128342..51218950 [GRCh37]
Chr22:45507006..49565816 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3 copy number gain See cases [RCV000141659] Chr22:42380961..50759410 [GRCh38]
Chr22:42776967..51197838 [GRCh37]
Chr22:41106911..49544704 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.33(chr22:50485457-50759410)x1 copy number loss See cases [RCV000142303] Chr22:50485457..50759410 [GRCh38]
Chr22:50923886..51197838 [GRCh37]
Chr22:49270752..49544704 [NCBI36]
Chr22:22q13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3 copy number gain See cases [RCV000142755] Chr22:42080077..50739836 [GRCh38]
Chr22:42476081..51178264 [GRCh37]
Chr22:40806027..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48241375-50739836)x1 copy number loss See cases [RCV000142589] Chr22:48241375..50739836 [GRCh38]
Chr22:48637187..51178264 [GRCh37]
Chr22:47015851..49525130 [NCBI36]
Chr22:22q13.32-13.33
pathogenic
GRCh38/hg38 22q13.33(chr22:49529760-50759410)x1 copy number loss See cases [RCV000143708] Chr22:49529760..50759410 [GRCh38]
Chr22:49923409..51197838 [GRCh37]
Chr22:48309413..49544704 [NCBI36]
Chr22:22q13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46361165-50759299)x1 copy number loss See cases [RCV000143487] Chr22:46361165..50759299 [GRCh38]
Chr22:46757062..51197727 [GRCh37]
Chr22:45135726..49544593 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.33(chr22:50368887-50599372)x3 copy number gain See cases [RCV000148204] Chr22:50368887..50599372 [GRCh38]
Chr22:50807316..51037801 [GRCh37]
Chr22:49154182..49384667 [NCBI36]
Chr22:22q13.33
uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:45075720-51181759) copy number loss not provided [RCV000767746] Chr22:45075720..51181759 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
NM_001953.5(TYMP):c.401C>T (p.Ala134Val) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV001145863]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001273319]|not provided [RCV000676464] Chr22:50529152 [GRCh38]
Chr22:50967581 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.281C>T (p.Ala94Val) single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001273320]|not provided [RCV000196647] Chr22:50529272 [GRCh38]
Chr22:50967701 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.476A>T (p.Glu159Val) single nucleotide variant not provided [RCV000200518] Chr22:50528552 [GRCh38]
Chr22:50966981 [GRCh37]
Chr22:22q13.33
likely pathogenic
NM_001953.5(TYMP):c.895C>A (p.Pro299Thr) single nucleotide variant not provided [RCV000197047]|not specified [RCV004700592] Chr22:50526609 [GRCh38]
Chr22:50965038 [GRCh37]
Chr22:22q13.33
likely pathogenic|uncertain significance
NM_001953.5(TYMP):c.647-9C>G single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV001143969]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001828032]|not provided [RCV000197130] Chr22:50527292 [GRCh38]
Chr22:50965721 [GRCh37]
Chr22:22q13.33
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001953.5(TYMP):c.516+2T>A single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001828033]|TYMP-related disorder [RCV003417717]|not provided [RCV000197259] Chr22:50528510 [GRCh38]
Chr22:50966939 [GRCh37]
Chr22:22q13.33
pathogenic|likely pathogenic
NM_001953.5(TYMP):c.1219G>C (p.Gly407Arg) single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001828034]|not provided [RCV000197532] Chr22:50526082 [GRCh38]
Chr22:50964511 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.874C>G (p.Leu292Val) single nucleotide variant not provided [RCV002515445]|not specified [RCV000197889] Chr22:50526630 [GRCh38]
Chr22:50965059 [GRCh37]
Chr22:22q13.33
likely benign|uncertain significance
NM_001953.5(TYMP):c.586G>A (p.Gly196Arg) single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001833161]|not provided [RCV000198014] Chr22:50527648 [GRCh38]
Chr22:50966077 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.646+8G>A single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV001143970]|not provided [RCV000909762]|not specified [RCV000198097] Chr22:50527580 [GRCh38]
Chr22:50966009 [GRCh37]
Chr22:22q13.33
benign|likely benign|uncertain significance
NM_001953.5(TYMP):c.358G>A (p.Gly120Ser) single nucleotide variant not provided [RCV000198166]|not specified [RCV004586618] Chr22:50529195 [GRCh38]
Chr22:50967624 [GRCh37]
Chr22:22q13.33
likely pathogenic|uncertain significance
NM_001953.5(TYMP):c.1170G>C (p.Glu390Asp) single nucleotide variant not provided [RCV001853205]|not specified [RCV000198365] Chr22:50526131 [GRCh38]
Chr22:50964560 [GRCh37]
Chr22:22q13.33
likely pathogenic|likely benign|uncertain significance
NM_001953.5(TYMP):c.1439C>G (p.Pro480Arg) single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001274278]|not provided [RCV000198490] Chr22:50525780 [GRCh38]
Chr22:50964209 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.437G>A (p.Arg146His) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000666806]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001833157]|not provided [RCV000198648] Chr22:50528591 [GRCh38]
Chr22:50967020 [GRCh37]
Chr22:22q13.33
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001953.5(TYMP):c.683C>G (p.Ser228Cys) single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001833158]|not provided [RCV000195542] Chr22:50527247 [GRCh38]
Chr22:50965676 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.814G>A (p.Ala272Thr) single nucleotide variant not provided [RCV002517271]|not specified [RCV000195691] Chr22:50526690 [GRCh38]
Chr22:50965119 [GRCh37]
Chr22:22q13.33
likely benign|uncertain significance
NM_001953.5(TYMP):c.1087G>A (p.Gly363Arg) single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001833159]|not provided [RCV000199261] Chr22:50526318 [GRCh38]
Chr22:50964747 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.391C>A (p.Pro131Thr) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV001260913]|not provided [RCV002517272] Chr22:50529162 [GRCh38]
Chr22:50967591 [GRCh37]
Chr22:22q13.33
likely pathogenic|uncertain significance
NM_001953.5(TYMP):c.519G>A (p.Met173Ile) single nucleotide variant not provided [RCV000966109] Chr22:50527715 [GRCh38]
Chr22:50966144 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.676G>A (p.Gly226Arg) single nucleotide variant Inborn genetic diseases [RCV004020434]|not provided [RCV000199474] Chr22:50527254 [GRCh38]
Chr22:50965683 [GRCh37]
Chr22:22q13.33
conflicting interpretations of pathogenicity|uncertain significance
NM_001953.5(TYMP):c.735G>A (p.Gln245=) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000268944]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001273316]|not provided [RCV000676463]|not specified [RCV000199621] Chr22:50527195 [GRCh38]
Chr22:50965624 [GRCh37]
Chr22:22q13.33
likely pathogenic|benign|likely benign|uncertain significance
NM_001953.5(TYMP):c.1219G>A (p.Gly407Arg) single nucleotide variant not provided [RCV000196011] Chr22:50526082 [GRCh38]
Chr22:50964511 [GRCh37]
Chr22:22q13.33
likely pathogenic
NM_001953.5(TYMP):c.1127G>A (p.Arg376Gln) single nucleotide variant not provided [RCV000419757] Chr22:50526278 [GRCh38]
Chr22:50964707 [GRCh37]
Chr22:22q13.33
benign|likely benign
NM_001953.5(TYMP):c.1321C>T (p.His441Tyr) single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001833160]|not provided [RCV000199736] Chr22:50525898 [GRCh38]
Chr22:50964327 [GRCh37]
Chr22:22q13.33
conflicting interpretations of pathogenicity|uncertain significance
NM_001953.5(TYMP):c.190G>A (p.Gly64Arg) single nucleotide variant Inborn genetic diseases [RCV004020433]|not provided [RCV000199888] Chr22:50529520 [GRCh38]
Chr22:50967949 [GRCh37]
Chr22:22q13.33
conflicting interpretations of pathogenicity|uncertain significance
NM_001953.5(TYMP):c.1159+5G>A single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000672181]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001828035]|not provided [RCV000196301]|not specified [RCV004700593] Chr22:50526241 [GRCh38]
Chr22:50964670 [GRCh37]
Chr22:22q13.33
likely pathogenic|uncertain significance
NM_001953.4(TYMP):c.929-6_929-3del microsatellite Fatal Infantile Cardioencephalomyopathy [RCV000374728]|Mitochondrial DNA depletion syndrome 1 [RCV000404575]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000293978]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001272325]|not provided [RCV000224802]|not specified [RCV000200098] Chr22:50526479..50526482 [GRCh38]
Chr22:50964908..50964911 [GRCh37]
Chr22:22q13.33
benign|likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 22q13.33(chr22:50964500-51016275)x3 copy number gain Breast ductal adenocarcinoma [RCV000207317] Chr22:50964500..51016275 [GRCh37]
Chr22:22q13.33
uncertain significance
Single allele deletion Autism spectrum disorder [RCV000208741] Chr22:49033233..51193680 [GRCh37]
Chr22:22q13.32-13.33
pathogenic
NM_001953.5(TYMP):c.162C>G (p.Ile54Met) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208614] Chr22:50529548 [GRCh38]
Chr22:50967977 [GRCh37]
Chr22:22q13.33
pathogenic
c.52_53delCT variation Mitochondrial DNA depletion syndrome 1 [RCV000208615] Chr22:22q13.33 pathogenic
NM_001953.5(TYMP):c.128A>C (p.Lys43Thr) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208616]|not provided [RCV002517410]|not specified [RCV003235133] Chr22:50529582 [GRCh38]
Chr22:50968011 [GRCh37]
Chr22:22q13.33
pathogenic|likely pathogenic|uncertain significance
NM_001953.5(TYMP):c.1320dup (p.His441fs) duplication Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000208617] Chr22:50525898..50525899 [GRCh38]
Chr22:50964327..50964328 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.707T>C (p.Phe236Ser) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208618] Chr22:50527223 [GRCh38]
Chr22:50965652 [GRCh37]
Chr22:22q13.33
pathogenic
c.1412C>T variation Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000208619]|Myoneural gastrointestinal encephalopathy syndrome [RCV000208619] Chr22:22q13.33 benign
c.622G>A variation Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000208620]|Myoneural gastrointestinal encephalopathy syndrome [RCV000208620] Chr22:22q13.33 pathogenic
NM_001953.5(TYMP):c.1412C>A (p.Ser471Ter) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208621] Chr22:50525807 [GRCh38]
Chr22:50964236 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.784del (p.Ser261_Leu262insTer) deletion Mitochondrial DNA depletion syndrome 1 [RCV000208623] Chr22:50526720 [GRCh38]
Chr22:50965149 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.1282G>A (p.Gly428Ser) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208625]|not provided [RCV002515560] Chr22:50526019 [GRCh38]
Chr22:50964448 [GRCh37]
Chr22:22q13.33
pathogenic|likely pathogenic
NM_001953.5(TYMP):c.865G>A (p.Glu289Lys) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208626]|not provided [RCV003556265] Chr22:50526639 [GRCh38]
Chr22:50965068 [GRCh37]
Chr22:22q13.33
pathogenic|uncertain significance
NM_001953.5(TYMP):c.1160-2A>C single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208627] Chr22:50526143 [GRCh38]
Chr22:50964572 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.847C>G (p.His283Asp) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208628]|not provided [RCV001853325] Chr22:50526657 [GRCh38]
Chr22:50965086 [GRCh37]
Chr22:22q13.33
pathogenic|uncertain significance
NM_001953.5(TYMP):c.1160-1G>A single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208629]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV000606736]|not provided [RCV001255087] Chr22:50526142 [GRCh38]
Chr22:50964571 [GRCh37]
Chr22:22q13.33
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001953.5(TYMP):c.647C>T (p.Ala216Val) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208630] Chr22:50527283 [GRCh38]
Chr22:50965712 [GRCh37]
Chr22:22q13.33
likely pathogenic|benign|conflicting interpretations of pathogenicity
NM_001953.5(TYMP):c.1395_1400del (p.Pro466_Phe467del) deletion Mitochondrial DNA depletion syndrome 1 [RCV000208631] Chr22:50525819..50525824 [GRCh38]
Chr22:50964248..50964253 [GRCh37]
Chr22:22q13.33
pathogenic
c.516+2T>C variation Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000208633]|Myoneural gastrointestinal encephalopathy syndrome [RCV000208633] Chr22:22q13.33 pathogenic
c.433G>A variation Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000208635]|Myoneural gastrointestinal encephalopathy syndrome [RCV000208635] Chr22:22q13.33 pathogenic
c.1193_1198delCGCTGG variation Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000208636]|Myoneural gastrointestinal encephalopathy syndrome [RCV000208636] Chr22:22q13.33 pathogenic
NM_001953.5(TYMP):c.340G>A (p.Asp114Asn) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208638] Chr22:50529213 [GRCh38]
Chr22:50967642 [GRCh37]
Chr22:22q13.33
pathogenic|likely pathogenic
c.931G>C variation Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000208639]|Myoneural gastrointestinal encephalopathy syndrome [RCV000208639] Chr22:22q13.33 pathogenic
NM_001953.5(TYMP):c.261G>T (p.Glu87Asp) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208640] Chr22:50529292 [GRCh38]
Chr22:50967721 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.605G>A (p.Arg202Lys) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208641] Chr22:50527629 [GRCh38]
Chr22:50966058 [GRCh37]
Chr22:22q13.33
pathogenic
c.972T>C variation Mitochondrial DNA depletion syndrome 1 [RCV000208642] Chr22:22q13.33 benign
NM_001953.5(TYMP):c.478T>C (p.Ser160Pro) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208643] Chr22:50528550 [GRCh38]
Chr22:50966979 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.1159G>A (p.Gly387Ser) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208644] Chr22:50526246 [GRCh38]
Chr22:50964675 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.1351dup (p.Gln451fs) duplication Mitochondrial DNA depletion syndrome 1 [RCV000208645] Chr22:50525867..50525868 [GRCh38]
Chr22:50964296..50964297 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.938T>C (p.Leu313Pro) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208646] Chr22:50526467 [GRCh38]
Chr22:50964896 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.994_1011dup (p.Gly337_Ser338insAlaAlaLeuAspAspGly) duplication Mitochondrial DNA depletion syndrome 1 [RCV000208647] Chr22:50526393..50526394 [GRCh38]
Chr22:50964822..50964823 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.1432C>T (p.Leu478=) single nucleotide variant not provided [RCV000896546] Chr22:50525787 [GRCh38]
Chr22:50964216 [GRCh37]
Chr22:22q13.33
benign|likely benign
c.1393G>A variation Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000208649]|Myoneural gastrointestinal encephalopathy syndrome [RCV000208649] Chr22:22q13.33 benign
NM_001953.5(TYMP):c.1300+2T>A single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208650] Chr22:50525999 [GRCh38]
Chr22:50964428 [GRCh37]
Chr22:22q13.33
pathogenic
c.1-11G>C variation Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000208651]|Myoneural gastrointestinal encephalopathy syndrome [RCV000208651] Chr22:22q13.33 pathogenic
c.929-3_929-6delCCGC variation Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000208653]|Myoneural gastrointestinal encephalopathy syndrome [RCV000208653] Chr22:22q13.33 pathogenic
NM_001953.5(TYMP):c.1311G>A (p.Trp437Ter) single nucleotide variant Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000208654] Chr22:50525908 [GRCh38]
Chr22:50964337 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.263_264del (p.Thr88fs) deletion Mitochondrial DNA depletion syndrome 1 [RCV000208656] Chr22:50529289..50529290 [GRCh38]
Chr22:50967718..50967719 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.228G>A (p.Met76Ile) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208657]|not specified [RCV003479061] Chr22:50529325 [GRCh38]
Chr22:50967754 [GRCh37]
Chr22:22q13.33
pathogenic|uncertain significance
c.131G>A variation Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000208658]|Myoneural gastrointestinal encephalopathy syndrome [RCV000208658] Chr22:22q13.33 pathogenic
c.854T>C variation Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000208659]|Myoneural gastrointestinal encephalopathy syndrome [RCV000208659] Chr22:22q13.33 pathogenic
NM_001953.5(TYMP):c.715G>A (p.Ala239Thr) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208661] Chr22:50527215 [GRCh38]
Chr22:50965644 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.928+1G>A single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208662] Chr22:50526575 [GRCh38]
Chr22:50965004 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.623T>G (p.Val208Gly) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208663] Chr22:50527611 [GRCh38]
Chr22:50966040 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.931G>A (p.Gly311Ser) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208664]|not provided [RCV001853327] Chr22:50526474 [GRCh38]
Chr22:50964903 [GRCh37]
Chr22:22q13.33
pathogenic|uncertain significance
NM_001953.5(TYMP):c.1301-1G>A single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208666] Chr22:50525919 [GRCh38]
Chr22:50964348 [GRCh37]
Chr22:22q13.33
pathogenic|likely pathogenic
NM_001953.5(TYMP):c.275C>A (p.Thr92Asn) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208667]|not provided [RCV001853324] Chr22:50529278 [GRCh38]
Chr22:50967707 [GRCh37]
Chr22:22q13.33
pathogenic|likely pathogenic
c.866A>C variation Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000208668]|Myoneural gastrointestinal encephalopathy syndrome [RCV000208668] Chr22:22q13.33 pathogenic
c.1069A>G variation Mitochondrial DNA depletion syndrome 1 [RCV000208669] Chr22:22q13.33 benign
NM_001953.5(TYMP):c.1160-2A>G single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208670] Chr22:50526143 [GRCh38]
Chr22:50964572 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.1159+2T>A single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208672]|not provided [RCV000794156] Chr22:50526244 [GRCh38]
Chr22:50964673 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.1010_1019delinsAA (p.Gly337fs) indel Mitochondrial DNA depletion syndrome 1 [RCV000208673] Chr22:50526386..50526395 [GRCh38]
Chr22:50964815..50964824 [GRCh37]
Chr22:22q13.33
pathogenic
c.831G>A variation Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000208674]|Myoneural gastrointestinal encephalopathy syndrome [RCV000208674] Chr22:22q13.33 benign
c.457G>A variation Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000208676]|Myoneural gastrointestinal encephalopathy syndrome [RCV000208676] Chr22:22q13.33 pathogenic
NM_001953.5(TYMP):c.398T>C (p.Leu133Pro) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208677] Chr22:50529155 [GRCh38]
Chr22:50967584 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.1311del (p.Trp437fs) deletion Mitochondrial DNA depletion syndrome 1 [RCV000208678] Chr22:50525908 [GRCh38]
Chr22:50964337 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.1211dup (p.Gly405fs) duplication Mitochondrial DNA depletion syndrome 1 [RCV000208679] Chr22:50526089..50526090 [GRCh38]
Chr22:50964518..50964519 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.112G>T (p.Glu38Ter) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208680]|not provided [RCV003556264] Chr22:50529598 [GRCh38]
Chr22:50968027 [GRCh37]
Chr22:22q13.33
pathogenic
c.665A>G variation Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000208681]|Myoneural gastrointestinal encephalopathy syndrome [RCV000208681] Chr22:22q13.33 pathogenic
c.605G>C variation Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000208682]|Myoneural gastrointestinal encephalopathy syndrome [RCV000208682] Chr22:22q13.33 pathogenic
NM_001953.5(TYMP):c.1401C>T (p.Phe467=) single nucleotide variant not provided [RCV001403810]|not specified [RCV000603940] Chr22:50525818 [GRCh38]
Chr22:50964247 [GRCh37]
Chr22:22q13.33
benign|likely benign
NM_001953.5(TYMP):c.1360G>C (p.Ala454Pro) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208684] Chr22:50525859 [GRCh38]
Chr22:50964288 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.518T>G (p.Met173Arg) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208685]|not provided [RCV004767153] Chr22:50527716 [GRCh38]
Chr22:50966145 [GRCh37]
Chr22:22q13.33
pathogenic|likely pathogenic
NM_001953.5(TYMP):c.1160G>A (p.Gly387Asp) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208687]|not specified [RCV003235134] Chr22:50526141 [GRCh38]
Chr22:50964570 [GRCh37]
Chr22:22q13.33
pathogenic|likely pathogenic|uncertain significance
NM_001953.5(TYMP):c.1431dup (p.Leu478fs) duplication Mitochondrial DNA depletion syndrome 1 [RCV000208688] Chr22:50525787..50525788 [GRCh38]
Chr22:50964216..50964217 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.1067T>C (p.Leu356Pro) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208689] Chr22:50526338 [GRCh38]
Chr22:50964767 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.4(TYMP):c.929-3G>A single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208690] Chr22:22q13.33 pathogenic
NM_001953.5(TYMP):c.1327_1346del (p.Asp443fs) deletion Mitochondrial DNA depletion syndrome 1 [RCV000208691]|not provided [RCV001853328] Chr22:50525873..50525892 [GRCh38]
Chr22:50964302..50964321 [GRCh37]
Chr22:22q13.33
pathogenic|likely pathogenic
c.215-1G>C variation Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000208693]|Myoneural gastrointestinal encephalopathy syndrome [RCV000208693] Chr22:22q13.33 pathogenic
NM_001953.5(TYMP):c.328C>T (p.Gln110Ter) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208694] Chr22:50529225 [GRCh38]
Chr22:50967654 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.1088del (p.Gly363fs) deletion Mitochondrial DNA depletion syndrome 1 [RCV000208695]|not provided [RCV003556266] Chr22:50526317 [GRCh38]
Chr22:50964746 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.720del (p.Val241fs) deletion Mitochondrial DNA depletion syndrome 1 [RCV000208696] Chr22:50527210 [GRCh38]
Chr22:50965639 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.261G>C (p.Glu87Asp) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208698] Chr22:50529292 [GRCh38]
Chr22:50967721 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.146T>G (p.Leu49Arg) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208699] Chr22:50529564 [GRCh38]
Chr22:50967993 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.856G>A (p.Glu286Lys) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208700] Chr22:50526648 [GRCh38]
Chr22:50965077 [GRCh37]
Chr22:22q13.33
pathogenic
c.1160-1G>C variation Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000208702]|Myoneural gastrointestinal encephalopathy syndrome [RCV000208702] Chr22:22q13.33 pathogenic
NM_001953.5(TYMP):c.760A>C (p.Thr254Pro) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208703] Chr22:50527170 [GRCh38]
Chr22:50965599 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.467A>G (p.Asp156Gly) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208704] Chr22:50528561 [GRCh38]
Chr22:50966990 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.1112T>C (p.Leu371Pro) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208705]|not provided [RCV002517411] Chr22:50526293 [GRCh38]
Chr22:50964722 [GRCh37]
Chr22:22q13.33
pathogenic|uncertain significance
NM_001953.5(TYMP):c.401C>A (p.Ala134Glu) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208707] Chr22:50529152 [GRCh38]
Chr22:50967581 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.931G>T (p.Gly311Cys) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208708] Chr22:50526474 [GRCh38]
Chr22:50964903 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.99dup (p.Lys34fs) duplication Mitochondrial DNA depletion syndrome 1 [RCV000208709] Chr22:50529610..50529611 [GRCh38]
Chr22:50968039..50968040 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.893G>A (p.Gly298Asp) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208710]|not provided [RCV001853326] Chr22:50526611 [GRCh38]
Chr22:50965040 [GRCh37]
Chr22:22q13.33
pathogenic|likely pathogenic
NM_001953.5(TYMP):c.1300+1G>A single nucleotide variant Inborn genetic diseases [RCV001266751]|Mitochondrial DNA depletion syndrome 1 [RCV000208711]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001828047]|not provided [RCV002515561] Chr22:50526000 [GRCh38]
Chr22:50964429 [GRCh37]
Chr22:22q13.33
pathogenic|likely pathogenic
c.1284T>A variation Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000208712]|Myoneural gastrointestinal encephalopathy syndrome [RCV000208712] Chr22:22q13.33 benign
NM_001953.5(TYMP):c.530T>C (p.Leu177Pro) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208713] Chr22:50527704 [GRCh38]
Chr22:50966133 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.966T>C (p.Thr322=) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208715] Chr22:50526439 [GRCh38]
Chr22:50964868 [GRCh37]
Chr22:22q13.33
benign
Single allele deletion not provided [RCV000768459] Chr22:46794432..51139778 [GRCh37]
Chr22:22q13.31-13.33
likely pathogenic
Single allele deletion Autism spectrum disorder [RCV000208731] Chr22:50282986..51304566 [GRCh37]
Chr22:22q13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_001953.5(TYMP):c.1308dup (p.Trp437fs) duplication Mitochondrial DNA depletion syndrome 1 [RCV000669866] Chr22:50525910..50525911 [GRCh38]
Chr22:50964339..50964340 [GRCh37]
Chr22:22q13.33
likely pathogenic
GRCh37/hg19 22q13.33(chr22:50922386-51205985)x1 copy number loss See cases [RCV000240423] Chr22:50922386..51205985 [GRCh37]
Chr22:22q13.33
pathogenic
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33
pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3 copy number gain See cases [RCV000240459] Chr22:40425714..51220961 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
NM_001953.5(TYMP):c.516+4C>T single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000266308]|not provided [RCV001854961]|not specified [RCV000253164] Chr22:50528508 [GRCh38]
Chr22:50966937 [GRCh37]
Chr22:22q13.33
likely benign|uncertain significance
NM_001953.5(TYMP):c.563G>C (p.Ser188Thr) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000272338] Chr22:50527671 [GRCh38]
Chr22:50966100 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1176C>T (p.Val392=) single nucleotide variant Fatal Infantile Cardioencephalomyopathy [RCV000355404]|Mitochondrial DNA depletion syndrome 1 [RCV001148523]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000274675]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001272324]|not provided [RCV000916747] Chr22:50526125 [GRCh38]
Chr22:50964554 [GRCh37]
Chr22:22q13.33
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001953.5(TYMP):c.647-8C>T single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000307838]|not provided [RCV000976220] Chr22:50527291 [GRCh38]
Chr22:50965720 [GRCh37]
Chr22:22q13.33
likely benign|uncertain significance
NM_001953.5(TYMP):c.858G>A (p.Glu286=) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000367266]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001272327]|TYMP-related disorder [RCV003950191]|not provided [RCV000924526] Chr22:50526646 [GRCh38]
Chr22:50965075 [GRCh37]
Chr22:22q13.33
benign|likely benign|uncertain significance
NM_001953.5(TYMP):c.586G>C (p.Gly196Arg) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000364806] Chr22:50527648 [GRCh38]
Chr22:50966077 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1147G>A (p.Ala383Thr) single nucleotide variant Fatal Infantile Cardioencephalomyopathy [RCV000370522]|Mitochondrial DNA depletion syndrome 1 [RCV000275945]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000329849] Chr22:50526258 [GRCh38]
Chr22:50964687 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.214+6_214+7del deletion Mitochondrial DNA depletion syndrome 1 [RCV000279377] Chr22:50529489..50529490 [GRCh38]
Chr22:50967918..50967919 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1028T>G (p.Phe343Cys) single nucleotide variant Fatal Infantile Cardioencephalomyopathy [RCV000377624]|Mitochondrial DNA depletion syndrome 1 [RCV001148526]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000283127]|TYMP-related disorder [RCV003957767]|not provided [RCV001478639] Chr22:50526377 [GRCh38]
Chr22:50964806 [GRCh37]
Chr22:22q13.33
likely benign|uncertain significance
NM_001953.5(TYMP):c.516+14C>T single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000320448]|not provided [RCV003556352] Chr22:50528498 [GRCh38]
Chr22:50966927 [GRCh37]
Chr22:22q13.33
likely benign|uncertain significance
NM_001953.5(TYMP):c.344A>G (p.Lys115Arg) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000324061] Chr22:50529209 [GRCh38]
Chr22:50967638 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.516+10G>A single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000377442]|not provided [RCV001505985] Chr22:50528502 [GRCh38]
Chr22:50966931 [GRCh37]
Chr22:22q13.33
likely benign|uncertain significance
NM_001953.5(TYMP):c.1137G>A (p.Glu379=) single nucleotide variant Fatal Infantile Cardioencephalomyopathy [RCV000380883]|Mitochondrial DNA depletion syndrome 1 [RCV001148524]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000326267]|not provided [RCV001436435] Chr22:50526268 [GRCh38]
Chr22:50964697 [GRCh37]
Chr22:22q13.33
likely benign|uncertain significance
NM_001953.5(TYMP):c.1443G>A (p.Gln481=) single nucleotide variant Fatal Infantile Cardioencephalomyopathy [RCV000290856]|Mitochondrial DNA depletion syndrome 1 [RCV001145763]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000341121]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001272319]|TYMP-related disorder [RCV004752866]|not provided [RCV000676455] Chr22:50525776 [GRCh38]
Chr22:50964205 [GRCh37]
Chr22:22q13.33
likely benign|uncertain significance
NM_001953.5(TYMP):c.930G>A (p.Gly310=) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000334785]|not provided [RCV001402473] Chr22:50526475 [GRCh38]
Chr22:50964904 [GRCh37]
Chr22:22q13.33
likely benign|uncertain significance
NM_001953.5(TYMP):c.-84T>C single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000294180] Chr22:50529977 [GRCh38]
Chr22:50968406 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.202G>A (p.Gly68Ser) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000336790]|not provided [RCV004694691] Chr22:50529508 [GRCh38]
Chr22:50967937 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.995C>T (p.Ala332Val) single nucleotide variant Fatal Infantile Cardioencephalomyopathy [RCV000407538]|Mitochondrial DNA depletion syndrome 1 [RCV001148527]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000342786]|TYMP-related disorder [RCV003957768]|not provided [RCV001399738] Chr22:50526410 [GRCh38]
Chr22:50964839 [GRCh37]
Chr22:22q13.33
likely benign|uncertain significance
NM_001953.5(TYMP):c.47G>C (p.Gly16Ala) single nucleotide variant Inborn genetic diseases [RCV002520067]|Mitochondrial DNA depletion syndrome 1 [RCV000386231]|not provided [RCV002523235] Chr22:50529663 [GRCh38]
Chr22:50968092 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.859G>A (p.Val287Met) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000300932]|not provided [RCV002520066] Chr22:50526645 [GRCh38]
Chr22:50965074 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1030G>C (p.Glu344Gln) single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001274282]|not provided [RCV000489154] Chr22:50526375 [GRCh38]
Chr22:50964804 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1404C>T (p.Ala468=) single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001278856]|not provided [RCV003738033] Chr22:50525815 [GRCh38]
Chr22:50964244 [GRCh37]
Chr22:22q13.33
likely benign|uncertain significance
NM_001953.5(TYMP):c.1217C>A (p.Ala406Asp) single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001278859] Chr22:50526084 [GRCh38]
Chr22:50964513 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1209G>A (p.Glu403=) single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001278860]|not provided [RCV001478884] Chr22:50526092 [GRCh38]
Chr22:50964521 [GRCh37]
Chr22:22q13.33
likely benign|uncertain significance
NM_001953.5(TYMP):c.418-7C>T single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001278862]|not provided [RCV002069440] Chr22:50528617 [GRCh38]
Chr22:50967046 [GRCh37]
Chr22:22q13.33
likely benign|uncertain significance
NM_001953.5(TYMP):c.60G>A (p.Gly20=) single nucleotide variant not provided [RCV002184924] Chr22:50529650 [GRCh38]
Chr22:50968079 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1044G>A (p.Ala348=) single nucleotide variant Fatal Infantile Cardioencephalomyopathy [RCV000327619]|Mitochondrial DNA depletion syndrome 1 [RCV001148525]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000291157]|not provided [RCV003765979] Chr22:50526361 [GRCh38]
Chr22:50964790 [GRCh37]
Chr22:22q13.33
likely benign|uncertain significance
NM_005138.3(SCO2):c.-78G>C single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV001149987]|Fatal Infantile Cardioencephalomyopathy [RCV000364567]|Mitochondrial DNA depletion syndrome 1 [RCV000376198]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000309935]|Myopia 6 [RCV001543802]|not provided [RCV004713833] Chr22:50525536 [GRCh38]
Chr22:50963965 [GRCh37]
Chr22:22q13.33
benign
NM_001953.5(TYMP):c.-92C>T single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000351551] Chr22:50529985 [GRCh38]
Chr22:50968414 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.756A>C (p.Ala252=) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000370621]|not provided [RCV001422715] Chr22:50527174 [GRCh38]
Chr22:50965603 [GRCh37]
Chr22:22q13.33
likely benign|uncertain significance
NM_001953.5(TYMP):c.221T>A (p.Met74Lys) single nucleotide variant not specified [RCV000518152] Chr22:50529332 [GRCh38]
Chr22:50967761 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001257988.1(TYMP):c.-185C>G single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000392133] Chr22:50530043 [GRCh38]
Chr22:50968472 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_005138.3(SCO2):c.-135_-132dup duplication Fatal Infantile Cardioencephalomyopathy [RCV000353038]|Mitochondrial DNA depletion syndrome 1 [RCV000286473]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000316989]|not provided [RCV001799657] Chr22:50525589..50525590 [GRCh38]
Chr22:50964018..50964019 [GRCh37]
Chr22:22q13.33
benign|likely benign
NM_005138.3(SCO2):c.-18G>A single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV001148414]|Fatal Infantile Cardioencephalomyopathy [RCV000402865]|Mitochondrial DNA depletion syndrome 1 [RCV000321673]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000313637]|not provided [RCV004713352]|not specified [RCV000128011] Chr22:50525476 [GRCh38]
Chr22:50963905 [GRCh37]
Chr22:22q13.33
benign
NM_005138.3(SCO2):c.59G>C (p.Arg20Pro) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV001148413]|Fatal Infantile Cardioencephalomyopathy [RCV000374348]|Mitochondrial DNA depletion syndrome 1 [RCV000271220]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000338357]|Myopia 6 [RCV001807081]|not provided [RCV000676291]|not specified [RCV000128012] Chr22:50524353 [GRCh38]
Chr22:50962782 [GRCh37]
Chr22:22q13.33
benign
NM_005138.3(SCO2):c.327C>T (p.His109=) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV001149872]|Fatal Infantile Cardioencephalomyopathy [RCV000370305]|Mitochondrial DNA depletion syndrome 1 [RCV000365573]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000310916]|not provided [RCV000676290]|not specified [RCV000128014] Chr22:50524085 [GRCh38]
Chr22:50962514 [GRCh37]
Chr22:22q13.33
benign|likely benign
NM_005138.3(SCO2):c.582C>T (p.Ser194=) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV001148306]|Fatal Infantile Cardioencephalomyopathy [RCV000406575]|Mitochondrial DNA depletion syndrome 1 [RCV000324968]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000336884]|not provided [RCV000676289]|not specified [RCV000128015] Chr22:50523830 [GRCh38]
Chr22:50962259 [GRCh37]
Chr22:22q13.33
benign|likely benign
NM_005138.3(SCO2):c.633A>C (p.Ala211=) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV001148305]|Fatal Infantile Cardioencephalomyopathy [RCV000404245]|Mitochondrial DNA depletion syndrome 1 [RCV000269901]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000300513]|Myopia 6 [RCV001807082]|not provided [RCV000676288]|not specified [RCV000128016] Chr22:50523779 [GRCh38]
Chr22:50962208 [GRCh37]
Chr22:22q13.33
benign
NM_005138.3(SCO2):c.776C>T (p.Ala259Val) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV001145436]|Fatal Infantile Cardioencephalomyopathy [RCV000383650]|Mitochondrial DNA depletion syndrome 1 [RCV000369274]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000284953]|not provided [RCV000431453] Chr22:50523636 [GRCh38]
Chr22:50962065 [GRCh37]
Chr22:22q13.33
benign|likely benign
NM_001953.5(TYMP):c.766-10C>T single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000313713] Chr22:50526748 [GRCh38]
Chr22:50965177 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.861G>A (p.Val287=) single nucleotide variant not provided [RCV000978634]|not specified [RCV000606329] Chr22:50526643 [GRCh38]
Chr22:50965072 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.517-15G>A single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV001145862]|not provided [RCV002065305]|not specified [RCV000606871] Chr22:50527732 [GRCh38]
Chr22:50966161 [GRCh37]
Chr22:22q13.33
likely benign|uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:47247169-51176099)x1 copy number loss See cases [RCV000449140] Chr22:47247169..51176099 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47187586-51237463)x1 copy number loss See cases [RCV000446928] Chr22:47187586..51237463 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.33(chr22:50941373-51066468)x3 copy number gain See cases [RCV000447418] Chr22:50941373..51066468 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1389C>T (p.Asp463=) single nucleotide variant not provided [RCV001395089]|not specified [RCV000438948] Chr22:50525830 [GRCh38]
Chr22:50964259 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.215-8C>T single nucleotide variant TYMP-related disorder [RCV003942362]|not provided [RCV001519964] Chr22:50529346 [GRCh38]
Chr22:50967775 [GRCh37]
Chr22:22q13.33
benign|likely benign
NM_001953.5(TYMP):c.1071C>T (p.Ala357=) single nucleotide variant not provided [RCV000879004]|not specified [RCV000419961] Chr22:50526334 [GRCh38]
Chr22:50964763 [GRCh37]
Chr22:22q13.33
benign|likely benign
NM_001953.5(TYMP):c.231C>T (p.Ala77=) single nucleotide variant not provided [RCV001416766]|not specified [RCV000443957] Chr22:50529322 [GRCh38]
Chr22:50967751 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.-10-36G>T single nucleotide variant not specified [RCV000423101] Chr22:50529755 [GRCh38]
Chr22:50968184 [GRCh37]
Chr22:22q13.33
likely benign
GRCh37/hg19 22q13.31-13.33(chr22:46866460-51197838)x1 copy number loss See cases [RCV000447857] Chr22:46866460..51197838 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43381459-51197838)x1 copy number loss See cases [RCV000512121] Chr22:43381459..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
NM_001953.5(TYMP):c.1301-12dup duplication not provided [RCV002525890]|not specified [RCV000478697] Chr22:50525929..50525930 [GRCh38]
Chr22:50964358..50964359 [GRCh37]
Chr22:22q13.33
benign|likely benign
NM_001953.5(TYMP):c.709G>T (p.Gly237Ter) single nucleotide variant not provided [RCV000497789] Chr22:50527221 [GRCh38]
Chr22:50965650 [GRCh37]
Chr22:22q13.33
pathogenic
GRCh37/hg19 22q13.33(chr22:49628164-51197838)x1 copy number loss See cases [RCV000510342] Chr22:49628164..51197838 [GRCh37]
Chr22:22q13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46543160-51197838)x1 copy number loss See cases [RCV000510351] Chr22:46543160..51197838 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
NM_001953.5(TYMP):c.763_765del (p.Leu255del) deletion Mitochondrial DNA depletion syndrome 1 [RCV000508782] Chr22:50527165..50527167 [GRCh38]
Chr22:50965594..50965596 [GRCh37]
Chr22:22q13.33
pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:48556939-51197838)x1 copy number loss See cases [RCV000511340] Chr22:48556939..51197838 [GRCh37]
Chr22:22q13.32-13.33
pathogenic
NM_001953.5(TYMP):c.628A>C (p.Ser210Arg) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000508974] Chr22:50527606 [GRCh38]
Chr22:50966035 [GRCh37]
Chr22:22q13.33
pathogenic
GRCh37/hg19 22q13.33(chr22:50716021-51157531)x3 copy number gain See cases [RCV000511797] Chr22:50716021..51157531 [GRCh37]
Chr22:22q13.33
uncertain significance
GRCh37/hg19 22q13.32-13.33(chr22:49305443-51197838)x1 copy number loss See cases [RCV000511993] Chr22:49305443..51197838 [GRCh37]
Chr22:22q13.32-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43875989-51197838)x1 copy number loss See cases [RCV000511015] Chr22:43875989..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45261208-51197838)x1 copy number loss See cases [RCV000511220] Chr22:45261208..51197838 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43050743-51197838)x1 copy number loss See cases [RCV000511256] Chr22:43050743..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42441918-51197838)x1 copy number loss See cases [RCV000510765] Chr22:42441918..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
NM_001953.5(TYMP):c.1126C>T (p.Arg376Trp) single nucleotide variant Inborn genetic diseases [RCV003251745] Chr22:50526279 [GRCh38]
Chr22:50964708 [GRCh37]
Chr22:22q13.33
uncertain significance
GRCh37/hg19 22q13.32-13.33(chr22:48533991-51178264) copy number loss Phelan-McDermid syndrome [RCV000767671] Chr22:48533991..51178264 [GRCh37]
Chr22:22q13.32-13.33
pathogenic
NM_001953.5(TYMP):c.517-14G>A single nucleotide variant not provided [RCV002528651]|not specified [RCV000613022] Chr22:50527731 [GRCh38]
Chr22:50966160 [GRCh37]
Chr22:22q13.33
likely benign|uncertain significance
NM_001953.5(TYMP):c.1159+18C>A single nucleotide variant not provided [RCV002066772]|not specified [RCV000613366] Chr22:50526228 [GRCh38]
Chr22:50964657 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.-4A>G single nucleotide variant TYMP-related disorder [RCV003952979]|not provided [RCV000594925] Chr22:50529713 [GRCh38]
Chr22:50968142 [GRCh37]
Chr22:22q13.33
likely benign|uncertain significance
NM_001953.5(TYMP):c.929-16C>T single nucleotide variant not specified [RCV000612049] Chr22:50526492 [GRCh38]
Chr22:50964921 [GRCh37]
Chr22:22q13.33
likely benign
GRCh37/hg19 22q13.33(chr22:50145416-51197838)x1 copy number loss See cases [RCV000512145] Chr22:50145416..51197838 [GRCh37]
Chr22:22q13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_001953.5(TYMP):c.639C>T (p.Leu213=) single nucleotide variant not provided [RCV000942348]|not specified [RCV000601611] Chr22:50527595 [GRCh38]
Chr22:50966024 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1180G>T (p.Ala394Ser) single nucleotide variant not provided [RCV000676459] Chr22:50526121 [GRCh38]
Chr22:50964550 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1441C>T (p.Gln481Ter) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000668426]|TYMP-related disorder [RCV003892517]|not provided [RCV002531198]|not specified [RCV003488791] Chr22:50525778 [GRCh38]
Chr22:50964207 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.357G>C (p.Gly119=) single nucleotide variant not provided [RCV000676465] Chr22:50529196 [GRCh38]
Chr22:50967625 [GRCh37]
Chr22:22q13.33
likely benign
GRCh37/hg19 22q13.31-13.33(chr22:46780978-51183840)x1 copy number loss not provided [RCV000684522] Chr22:46780978..51183840 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46768838-51197838)x1 copy number loss not provided [RCV000684523] Chr22:46768838..51197838 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46667744-51183840)x1 copy number loss not provided [RCV000684524] Chr22:46667744..51183840 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45994305-51183840)x1 copy number loss not provided [RCV000684525] Chr22:45994305..51183840 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:44789956-51183840)x1 copy number loss not provided [RCV000684526] Chr22:44789956..51183840 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43320284-51183840)x1 copy number loss not provided [RCV000684527] Chr22:43320284..51183840 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43111156-51183840)x1 copy number loss not provided [RCV000684528] Chr22:43111156..51183840 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42955616-51183840)x1 copy number loss not provided [RCV000684529] Chr22:42955616..51183840 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.33(chr22:50190425-51183767)x1 copy number loss not provided [RCV000684487] Chr22:50190425..51183767 [GRCh37]
Chr22:22q13.33
pathogenic
GRCh37/hg19 22q13.33(chr22:50613566-51197838)x1 copy number loss not provided [RCV000684479] Chr22:50613566..51197838 [GRCh37]
Chr22:22q13.33
pathogenic
GRCh37/hg19 22q13.33(chr22:50134203-51183840)x1 copy number loss not provided [RCV000684488] Chr22:50134203..51183840 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.417+27G>C single nucleotide variant not provided [RCV001565694] Chr22:50529109 [GRCh38]
Chr22:50967538 [GRCh37]
Chr22:22q13.33
likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42151555-51195728)x1 copy number loss not provided [RCV000741989] Chr22:42151555..51195728 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47782346-51243435)x1 copy number loss not provided [RCV000742061] Chr22:47782346..51243435 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:48125251-51211392)x1 copy number loss not provided [RCV000742062] Chr22:48125251..51211392 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:49313561-51195728)x1 copy number loss not provided [RCV000742071] Chr22:49313561..51195728 [GRCh37]
Chr22:22q13.32-13.33
pathogenic
GRCh37/hg19 22q13.33(chr22:50627704-51211392)x1 copy number loss not provided [RCV000742097] Chr22:50627704..51211392 [GRCh37]
Chr22:22q13.33
pathogenic
GRCh37/hg19 22q13.33(chr22:50921022-51054264)x3 copy number gain not provided [RCV000742112] Chr22:50921022..51054264 [GRCh37]
Chr22:22q13.33
benign
GRCh37/hg19 22q13.33(chr22:50923113-51055900)x3 copy number gain not provided [RCV000742113] Chr22:50923113..51055900 [GRCh37]
Chr22:22q13.33
benign
GRCh37/hg19 22q13.33(chr22:50942107-50988376)x3 copy number gain not provided [RCV000742115] Chr22:50942107..50988376 [GRCh37]
Chr22:22q13.33
benign
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_001953.5(TYMP):c.517-55_517-52del deletion not provided [RCV001708814] Chr22:50527769..50527772 [GRCh38]
Chr22:50966198..50966201 [GRCh37]
Chr22:22q13.33
benign
NM_001953.5(TYMP):c.294G>A (p.Ser98=) single nucleotide variant not provided [RCV000940792] Chr22:50529259 [GRCh38]
Chr22:50967688 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.766-53C>T single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV001543805] Chr22:50526791 [GRCh38]
Chr22:50965220 [GRCh37]
Chr22:22q13.33
benign
NM_001953.5(TYMP):c.517-54_517-52del deletion not provided [RCV001534936] Chr22:50527769..50527771 [GRCh38]
Chr22:50966198..50966200 [GRCh37]
Chr22:22q13.33
benign
NM_001953.5(TYMP):c.267G>A (p.Ser89=) single nucleotide variant not provided [RCV000976413] Chr22:50529286 [GRCh38]
Chr22:50967715 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.970G>T (p.Ala324Ser) single nucleotide variant not provided [RCV001667175] Chr22:50526435 [GRCh38]
Chr22:50964864 [GRCh37]
Chr22:22q13.33
benign
NM_001953.5(TYMP):c.517-285T>C single nucleotide variant not provided [RCV001581054] Chr22:50528002 [GRCh38]
Chr22:50966431 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1001T>G (p.Leu334Arg) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000855774] Chr22:50526404 [GRCh38]
Chr22:50964833 [GRCh37]
Chr22:22q13.33
likely pathogenic
NM_001953.5(TYMP):c.798_801dup (p.Ala268fs) microsatellite not provided [RCV001058282] Chr22:50526702..50526703 [GRCh38]
Chr22:50965131..50965132 [GRCh37]
Chr22:22q13.33
pathogenic|likely pathogenic
NM_001953.5(TYMP):c.46G>C (p.Gly16Arg) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV001148635]|not provided [RCV003433039] Chr22:50529664 [GRCh38]
Chr22:50968093 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.195C>T (p.Ser65=) single nucleotide variant not provided [RCV000927929] Chr22:50529515 [GRCh38]
Chr22:50967944 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.194G>A (p.Ser65Asn) single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001276281]|not provided [RCV000944682] Chr22:50529516 [GRCh38]
Chr22:50967945 [GRCh37]
Chr22:22q13.33
benign|likely benign
NM_001953.5(TYMP):c.910G>A (p.Asp304Asn) single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001272326]|not provided [RCV000926633] Chr22:50526594 [GRCh38]
Chr22:50965023 [GRCh37]
Chr22:22q13.33
likely benign|conflicting interpretations of pathogenicity
NM_001953.5(TYMP):c.1320G>A (p.Val440=) single nucleotide variant not provided [RCV000928087] Chr22:50525899 [GRCh38]
Chr22:50964328 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.402G>C (p.Ala134=) single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001273318]|not provided [RCV000900816] Chr22:50529151 [GRCh38]
Chr22:50967580 [GRCh37]
Chr22:22q13.33
likely benign|uncertain significance
NM_001953.5(TYMP):c.933C>G (p.Gly311=) single nucleotide variant TYMP-related disorder [RCV003928621]|not provided [RCV000981074] Chr22:50526472 [GRCh38]
Chr22:50964901 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.177C>T (p.Ala59=) single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001832100]|not provided [RCV000928256] Chr22:50529533 [GRCh38]
Chr22:50967962 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1242G>A (p.Pro414=) single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001272323]|not provided [RCV000942836] Chr22:50526059 [GRCh38]
Chr22:50964488 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.928+10_928+20del deletion not provided [RCV000944471] Chr22:50526556..50526566 [GRCh38]
Chr22:50964985..50964995 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1287G>A (p.Gln429=) single nucleotide variant not provided [RCV000942408] Chr22:50526014 [GRCh38]
Chr22:50964443 [GRCh37]
Chr22:22q13.33
likely benign
GRCh37/hg19 22q13.33(chr22:49648935-51197838)x3 copy number gain not provided [RCV001007194] Chr22:49648935..51197838 [GRCh37]
Chr22:22q13.33
pathogenic
GRCh37/hg19 22q13.33(chr22:50893448-51060012)x3 copy number gain not provided [RCV001007195] Chr22:50893448..51060012 [GRCh37]
Chr22:22q13.33
uncertain significance
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3 copy number gain not provided [RCV001007502] Chr22:40502364..51197838 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
NM_001953.5(TYMP):c.929-1G>A single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000779376]|not provided [RCV003768446] Chr22:50526477 [GRCh38]
Chr22:50964906 [GRCh37]
Chr22:22q13.33
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001953.5(TYMP):c.150C>T (p.Ser50=) single nucleotide variant not provided [RCV000983763] Chr22:50529560 [GRCh38]
Chr22:50967989 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1301-9G>A single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001272320]|not provided [RCV000941563] Chr22:50525927 [GRCh38]
Chr22:50964356 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.495T>C (p.Asn165=) single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001836052]|TYMP-related disorder [RCV003936228]|not provided [RCV000981961] Chr22:50528533 [GRCh38]
Chr22:50966962 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.928+7G>C single nucleotide variant not provided [RCV000920928] Chr22:50526569 [GRCh38]
Chr22:50964998 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.138A>C (p.Gly46=) single nucleotide variant not provided [RCV000908561] Chr22:50529572 [GRCh38]
Chr22:50968001 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.198G>A (p.Ala66=) single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001827078]|not provided [RCV000976817] Chr22:50529512 [GRCh38]
Chr22:50967941 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.90G>A (p.Ser30=) single nucleotide variant not provided [RCV000943069] Chr22:50529620 [GRCh38]
Chr22:50968049 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.135C>T (p.Asp45=) single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001273321]|not provided [RCV000982640] Chr22:50529575 [GRCh38]
Chr22:50968004 [GRCh37]
Chr22:22q13.33
likely benign|uncertain significance
NM_001953.5(TYMP):c.690G>C (p.Leu230=) single nucleotide variant not provided [RCV000917275] Chr22:50527240 [GRCh38]
Chr22:50965669 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.516+9C>T single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001273317]|not provided [RCV000924331] Chr22:50528503 [GRCh38]
Chr22:50966932 [GRCh37]
Chr22:22q13.33
benign|likely benign
NM_001953.5(TYMP):c.564T>C (p.Ser188=) single nucleotide variant not provided [RCV000917803] Chr22:50527670 [GRCh38]
Chr22:50966099 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.621C>T (p.Thr207=) single nucleotide variant not provided [RCV000980124] Chr22:50527613 [GRCh38]
Chr22:50966042 [GRCh37]
Chr22:22q13.33
benign|likely benign
GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759) copy number loss Phelan-McDermid syndrome [RCV000767745] Chr22:42416026..51181759 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
NM_001953.5(TYMP):c.789G>A (p.Gly263=) single nucleotide variant not provided [RCV000828927] Chr22:50526715 [GRCh38]
Chr22:50965144 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.418-230T>C single nucleotide variant not provided [RCV000829407] Chr22:50528840 [GRCh38]
Chr22:50967269 [GRCh37]
Chr22:22q13.33
benign
NM_001953.5(TYMP):c.1040dup (p.Ala348fs) duplication Mitochondrial neurogastrointestinal encephalomyopathy [RCV001825637]|not provided [RCV000815088] Chr22:50526364..50526365 [GRCh38]
Chr22:50964793..50964794 [GRCh37]
Chr22:22q13.33
pathogenic|likely pathogenic
NM_001953.5(TYMP):c.516+27A>G single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV001543806]|not provided [RCV000830814] Chr22:50528485 [GRCh38]
Chr22:50966914 [GRCh37]
Chr22:22q13.33
benign
GRCh37/hg19 22q13.31-13.33(chr22:47740201-51197838)x3 copy number gain not provided [RCV000846659] Chr22:47740201..51197838 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
NM_001953.5(TYMP):c.1266G>A (p.Glu422=) single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001272322]|not provided [RCV000828182] Chr22:50526035 [GRCh38]
Chr22:50964464 [GRCh37]
Chr22:22q13.33
likely benign|uncertain significance
NM_001953.5(TYMP):c.11del (p.Ala3_Leu4insTer) deletion Mitochondrial DNA depletion syndrome 1 [RCV002501066]|not provided [RCV000800278] Chr22:50529699 [GRCh38]
Chr22:50968128 [GRCh37]
Chr22:22q13.33
pathogenic|likely pathogenic
NM_001953.5(TYMP):c.403del (p.Ala135fs) deletion not provided [RCV000820633] Chr22:50529150 [GRCh38]
Chr22:50967579 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.1340_1361del (p.Leu447fs) deletion not provided [RCV001869265]|not specified [RCV000825485] Chr22:50525858..50525879 [GRCh38]
Chr22:50964287..50964308 [GRCh37]
Chr22:22q13.33
pathogenic|uncertain significance
NM_001953.5(TYMP):c.786A>G (p.Leu262=) single nucleotide variant not provided [RCV000842469] Chr22:50526718 [GRCh38]
Chr22:50965147 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.586G>T (p.Gly196Ter) single nucleotide variant not provided [RCV001059593] Chr22:50527648 [GRCh38]
Chr22:50966077 [GRCh37]
Chr22:22q13.33
pathogenic
GRCh37/hg19 22q13.33(chr22:50966042-51090760)x1 copy number loss not provided [RCV001007196] Chr22:50966042..51090760 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.274del (p.Thr92fs) deletion not provided [RCV001090366] Chr22:50529279 [GRCh38]
Chr22:50967708 [GRCh37]
Chr22:22q13.33
pathogenic|likely pathogenic
NM_001953.5(TYMP):c.1402G>T (p.Ala468Ser) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV001145764] Chr22:50525817 [GRCh38]
Chr22:50964246 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1160-48G>A single nucleotide variant not provided [RCV000832992] Chr22:50526189 [GRCh38]
Chr22:50964618 [GRCh37]
Chr22:22q13.33
benign
NM_001953.5(TYMP):c.516+168G>T single nucleotide variant not provided [RCV000833757] Chr22:50528344 [GRCh38]
Chr22:50966773 [GRCh37]
Chr22:22q13.33
benign
NM_001953.5(TYMP):c.517-206G>A single nucleotide variant not provided [RCV000833758] Chr22:50527923 [GRCh38]
Chr22:50966352 [GRCh37]
Chr22:22q13.33
benign
NM_001953.5(TYMP):c.1023C>T (p.Gly341=) single nucleotide variant not provided [RCV000980488] Chr22:50526382 [GRCh38]
Chr22:50964811 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.765+7G>A single nucleotide variant not provided [RCV000980512] Chr22:50527158 [GRCh38]
Chr22:50965587 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1189C>T (p.Leu397=) single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001825856]|TYMP-related disorder [RCV004753115]|not provided [RCV000920440] Chr22:50526112 [GRCh38]
Chr22:50964541 [GRCh37]
Chr22:22q13.33
benign|likely benign
NM_001953.5(TYMP):c.1416del (p.Phe473fs) deletion not provided [RCV001008084] Chr22:50525803 [GRCh38]
Chr22:50964232 [GRCh37]
Chr22:22q13.33
pathogenic|likely pathogenic
NM_001953.5(TYMP):c.1048C>T (p.Gln350Ter) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV001027995] Chr22:50526357 [GRCh38]
Chr22:50964786 [GRCh37]
Chr22:22q13.33
pathogenic|likely pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46432744-51197838)x3 copy number gain not provided [RCV000849204] Chr22:46432744..51197838 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:48223839-51197725)x1 copy number loss not provided [RCV001007506] Chr22:48223839..51197725 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33
pathogenic
NM_001953.5(TYMP):c.417+1G>A single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV003462808]|not provided [RCV001238376] Chr22:50529135 [GRCh38]
Chr22:50967564 [GRCh37]
Chr22:22q13.33
pathogenic|likely pathogenic
NM_001953.5(TYMP):c.947dup (p.Ser317fs) duplication not provided [RCV001203813] Chr22:50526457..50526458 [GRCh38]
Chr22:50964886..50964887 [GRCh37]
Chr22:22q13.33
likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_001953.5(TYMP):c.524T>A (p.Val175Glu) single nucleotide variant Inborn genetic diseases [RCV003289693] Chr22:50527710 [GRCh38]
Chr22:50966139 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.996_1026del (p.Ala333fs) deletion not provided [RCV001090364] Chr22:50526379..50526409 [GRCh38]
Chr22:50964808..50964838 [GRCh37]
Chr22:22q13.33
likely pathogenic
NM_001953.5(TYMP):c.945G>A (p.Trp315Ter) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV003469279]|not provided [RCV001090365] Chr22:50526460 [GRCh38]
Chr22:50964889 [GRCh37]
Chr22:22q13.33
pathogenic|likely pathogenic
NM_001953.5(TYMP):c.28G>C (p.Gly10Arg) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV001148636] Chr22:50529682 [GRCh38]
Chr22:50968111 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.-20C>T single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV001148637] Chr22:50529913 [GRCh38]
Chr22:50968342 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1158T>C (p.Asp386=) single nucleotide variant not provided [RCV003121398] Chr22:50526247 [GRCh38]
Chr22:50964676 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.519G>T (p.Met173Ile) single nucleotide variant not provided [RCV003106316] Chr22:50527715 [GRCh38]
Chr22:50966144 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1110G>T (p.Gln370His) single nucleotide variant Inborn genetic diseases [RCV004285644]|not provided [RCV003234301] Chr22:50526295 [GRCh38]
Chr22:50964724 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1324C>T (p.Arg442Trp) single nucleotide variant not provided [RCV003118196] Chr22:50525895 [GRCh38]
Chr22:50964324 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1101A>G (p.Glu367=) single nucleotide variant not provided [RCV003118455] Chr22:50526304 [GRCh38]
Chr22:50964733 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.61G>C (p.Glu21Gln) single nucleotide variant not provided [RCV004776760] Chr22:50529649 [GRCh38]
Chr22:50968078 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.417+130_417+156del deletion not provided [RCV001550472] Chr22:50528980..50529006 [GRCh38]
Chr22:50967409..50967435 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.765+178G>A single nucleotide variant not provided [RCV001545291] Chr22:50526987 [GRCh38]
Chr22:50965416 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1301-35G>T single nucleotide variant not provided [RCV001569956] Chr22:50525953 [GRCh38]
Chr22:50964382 [GRCh37]
Chr22:22q13.33
likely benign
NC_000022.10:g.(?_50904370)_(50968138_?)dup duplication not provided [RCV003107564] Chr22:50904370..50968138 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.517-58_517-52del deletion not provided [RCV001562597] Chr22:50527769..50527775 [GRCh38]
Chr22:50966198..50966204 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.516+256G>A single nucleotide variant not provided [RCV001548562] Chr22:50528256 [GRCh38]
Chr22:50966685 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.852C>T (p.Ala284=) single nucleotide variant not provided [RCV000930246] Chr22:50526652 [GRCh38]
Chr22:50965081 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.765+7G>T single nucleotide variant not provided [RCV000979498] Chr22:50527158 [GRCh38]
Chr22:50965587 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.180T>C (p.Ala60=) single nucleotide variant not provided [RCV000932558] Chr22:50529530 [GRCh38]
Chr22:50967959 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1295G>A (p.Arg432His) single nucleotide variant Inborn genetic diseases [RCV004028352]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001272321]|not provided [RCV000886054] Chr22:50526006 [GRCh38]
Chr22:50964435 [GRCh37]
Chr22:22q13.33
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001953.5(TYMP):c.1173G>A (p.Leu391=) single nucleotide variant not provided [RCV000927923] Chr22:50526128 [GRCh38]
Chr22:50964557 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.585C>T (p.Asp195=) single nucleotide variant not provided [RCV000978204] Chr22:50527649 [GRCh38]
Chr22:50966078 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.762G>A (p.Thr254=) single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001272328]|not provided [RCV000915182] Chr22:50527168 [GRCh38]
Chr22:50965597 [GRCh37]
Chr22:22q13.33
likely benign|uncertain significance
NM_001953.5(TYMP):c.453A>T (p.Thr151=) single nucleotide variant not provided [RCV000932156] Chr22:50528575 [GRCh38]
Chr22:50967004 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1377C>T (p.Leu459=) single nucleotide variant not provided [RCV000932162] Chr22:50525842 [GRCh38]
Chr22:50964271 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.519G>C (p.Met173Ile) single nucleotide variant not provided [RCV000981951] Chr22:50527715 [GRCh38]
Chr22:50966144 [GRCh37]
Chr22:22q13.33
likely benign
GRCh37/hg19 22q13.32-13.33(chr22:48528536-51183840)x1 copy number loss not provided [RCV001007508] Chr22:48528536..51183840 [GRCh37]
Chr22:22q13.32-13.33
pathogenic
NM_001953.5(TYMP):c.193A>G (p.Ser65Gly) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV001148634]|not provided [RCV001475082] Chr22:50529517 [GRCh38]
Chr22:50967946 [GRCh37]
Chr22:22q13.33
likely benign|uncertain significance
NM_001953.5(TYMP):c.86dup (p.Ser30fs) duplication Mitochondrial DNA depletion syndrome 1 [RCV002465088] Chr22:50529623..50529624 [GRCh38]
Chr22:50968052..50968053 [GRCh37]
Chr22:22q13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45889148-51197838)x1 copy number loss not provided [RCV002473520] Chr22:45889148..51197838 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:44390702-51137629)x1 copy number loss not provided [RCV002473583] Chr22:44390702..51137629 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.33(chr22:50099570-51187115)x1 copy number loss not provided [RCV001537924] Chr22:50099570..51187115 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.517-52del deletion not provided [RCV001594809] Chr22:50527769 [GRCh38]
Chr22:50966198 [GRCh37]
Chr22:22q13.33
benign
NM_001953.5(TYMP):c.517-38T>C single nucleotide variant not provided [RCV001677852] Chr22:50527755 [GRCh38]
Chr22:50966184 [GRCh37]
Chr22:22q13.33
benign
NM_001953.5(TYMP):c.-11+68A>C single nucleotide variant not provided [RCV001718491] Chr22:50529836 [GRCh38]
Chr22:50968265 [GRCh37]
Chr22:22q13.33
benign
NM_001953.5(TYMP):c.1034G>A (p.Arg345Gln) single nucleotide variant not provided [RCV001092861] Chr22:50526371 [GRCh38]
Chr22:50964800 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.952G>C (p.Gly318Arg) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV001150096]|not provided [RCV002557229] Chr22:50526453 [GRCh38]
Chr22:50964882 [GRCh37]
Chr22:22q13.33
uncertain significance
GRCh37/hg19 22q13.32-13.33(chr22:48454469-51144947)x3 copy number gain not provided [RCV001007507] Chr22:48454469..51144947 [GRCh37]
Chr22:22q13.32-13.33
pathogenic
NM_005138.3(SCO2):c.237G>A (p.Arg79=) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV001145535]|Fatal Infantile Cardioencephalomyopathy [RCV000327533]|Mitochondrial DNA depletion syndrome 1 [RCV001145536]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000377551]|not provided [RCV000875350] Chr22:50524175 [GRCh38]
Chr22:50962604 [GRCh37]
Chr22:22q13.33
likely benign|uncertain significance
NM_001953.5(TYMP):c.517-56_517-52del deletion not provided [RCV001713489] Chr22:50527769..50527773 [GRCh38]
Chr22:50966198..50966202 [GRCh37]
Chr22:22q13.33
benign
NM_001953.5(TYMP):c.517-57_517-52del deletion not provided [RCV001648187] Chr22:50527769..50527774 [GRCh38]
Chr22:50966198..50966203 [GRCh37]
Chr22:22q13.33
benign
NM_001953.5(TYMP):c.1300+28C>T single nucleotide variant not provided [RCV001546590] Chr22:50525973 [GRCh38]
Chr22:50964402 [GRCh37]
Chr22:22q13.33
likely benign
NC_000022.11:g.50530129C>T single nucleotide variant not provided [RCV001613654] Chr22:50530129 [GRCh38]
Chr22:50968558 [GRCh37]
Chr22:22q13.33
benign
NM_001953.5(TYMP):c.1367A>G (p.Gln456Arg) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV001145765] Chr22:50525852 [GRCh38]
Chr22:50964281 [GRCh37]
Chr22:22q13.33
uncertain significance
NC_000022.10:g.(?_50964189)_(51066217_?)del deletion not provided [RCV001031919] Chr22:50964189..51066217 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.520C>T (p.Gln174Ter) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV003462796]|not provided [RCV001234540] Chr22:50527714 [GRCh38]
Chr22:50966143 [GRCh37]
Chr22:22q13.33
pathogenic|likely pathogenic
NC_000022.11:g.(?_50525760)_(50529719_?)del deletion not provided [RCV001032507] Chr22:50964189..50968148 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.646+1G>A single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV003467749]|not provided [RCV001047337] Chr22:50527587 [GRCh38]
Chr22:50966016 [GRCh37]
Chr22:22q13.33
pathogenic|likely pathogenic
NC_000022.11:g.43032129_50739836del deletion Phelan-McDermid syndrome [RCV001254356] Chr22:43032129..50739836 [GRCh38]
Chr22:22q13.2-13.33
pathogenic
NC_000022.11:g.48500344_50780581del deletion Phelan-McDermid syndrome [RCV001254361] Chr22:48500344..50780581 [GRCh38]
Chr22:22q13.32-13.33
pathogenic
NC_000022.11:g.46489644_50806138del deletion Phelan-McDermid syndrome [RCV001254363] Chr22:46489644..50806138 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
NC_000022.11:g.48500337_50739785del deletion Phelan-McDermid syndrome [RCV001254365] Chr22:48500337..50739785 [GRCh38]
Chr22:22q13.32-13.33
pathogenic
NC_000022.11:g.45819932_50737806del deletion Phelan-McDermid syndrome [RCV001254366] Chr22:45819932..50737806 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
NC_000022.11:g.46467175_50759338del deletion Phelan-McDermid syndrome [RCV001254367] Chr22:46467175..50759338 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
NC_000022.11:g.47823120_50759410del deletion Phelan-McDermid syndrome [RCV001254355] Chr22:47823120..50759410 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
NC_000022.11:g.44245760_50806121del deletion Phelan-McDermid syndrome [RCV001254369] Chr22:44245760..50806121 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
NC_000022.11:g.44702479_50806138del deletion Phelan-McDermid syndrome [RCV001254370] Chr22:44702479..50806138 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
NC_000022.11:g.47513236_50806138del deletion Phelan-McDermid syndrome [RCV001254357] Chr22:47513236..50806138 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
NC_000022.11:g.45708330_50737364del deletion Phelan-McDermid syndrome [RCV001254359] Chr22:45708330..50737364 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
NC_000022.11:g.47705262_50739836del deletion Phelan-McDermid syndrome [RCV001254360] Chr22:47705262..50739836 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
NC_000022.11:g.46269281_50740560del deletion Phelan-McDermid syndrome [RCV001254358] Chr22:46269281..50740560 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
NC_000022.11:g.43802117_50806121del deletion Phelan-McDermid syndrome [RCV001254364] Chr22:43802117..50806121 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
NC_000022.11:g.47447433_50806138del deletion Phelan-McDermid syndrome [RCV001254362] Chr22:47447433..50806138 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.33(chr22:50791825-51181078)x1 copy number loss not provided [RCV001258791] Chr22:50791825..51181078 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.647-6C>G single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001278861] Chr22:50527289 [GRCh38]
Chr22:50965718 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1159+1G>A single nucleotide variant Inborn genetic diseases [RCV001266752]|Mitochondrial DNA depletion syndrome 1 [RCV004570658]|not provided [RCV001880125] Chr22:50526245 [GRCh38]
Chr22:50964674 [GRCh37]
Chr22:22q13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_001953.5(TYMP):c.594A>G (p.Leu198=) single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001835499]|not provided [RCV001307226] Chr22:50527640 [GRCh38]
Chr22:50966069 [GRCh37]
Chr22:22q13.33
likely benign|uncertain significance
NM_001953.5(TYMP):c.540G>A (p.Ala180=) single nucleotide variant not provided [RCV001392852] Chr22:50527694 [GRCh38]
Chr22:50966123 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.131G>C (p.Arg44Pro) single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001279636] Chr22:50529579 [GRCh38]
Chr22:50968008 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.264C>T (p.Thr88=) single nucleotide variant not provided [RCV001422128] Chr22:50529289 [GRCh38]
Chr22:50967718 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.113A>G (p.Glu38Gly) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV001332064] Chr22:50529597 [GRCh38]
Chr22:50968026 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.929-9C>T single nucleotide variant not provided [RCV001396455] Chr22:50526485 [GRCh38]
Chr22:50964914 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1273G>A (p.Val425Ile) single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001278857] Chr22:50526028 [GRCh38]
Chr22:50964457 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1081T>C (p.Cys361Arg) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV001330872] Chr22:50526324 [GRCh38]
Chr22:50964753 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1413G>A (p.Ser471=) single nucleotide variant TYMP-related disorder [RCV003900426]|not provided [RCV001413537] Chr22:50525806 [GRCh38]
Chr22:50964235 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1245C>A (p.Leu415=) single nucleotide variant not provided [RCV001413723] Chr22:50526056 [GRCh38]
Chr22:50964485 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1410C>T (p.Pro470=) single nucleotide variant not provided [RCV001413802] Chr22:50525809 [GRCh38]
Chr22:50964238 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1419C>T (p.Phe473=) single nucleotide variant TYMP-related disorder [RCV004753313]|not provided [RCV001413292] Chr22:50525800 [GRCh38]
Chr22:50964229 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.867G>A (p.Glu289=) single nucleotide variant not provided [RCV001396400] Chr22:50526637 [GRCh38]
Chr22:50965066 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1225A>G (p.Ser409Gly) single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001278858] Chr22:50526076 [GRCh38]
Chr22:50964505 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1017C>T (p.Ala339=) single nucleotide variant not provided [RCV001395050] Chr22:50526388 [GRCh38]
Chr22:50964817 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.87T>G (p.Pro29=) single nucleotide variant not provided [RCV001396062] Chr22:50529623 [GRCh38]
Chr22:50968052 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1170G>A (p.Glu390=) single nucleotide variant not provided [RCV001395901] Chr22:50526131 [GRCh38]
Chr22:50964560 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1236G>C (p.Gly412=) single nucleotide variant not provided [RCV001473092] Chr22:50526065 [GRCh38]
Chr22:50964494 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.897G>A (p.Pro299=) single nucleotide variant not provided [RCV001465032] Chr22:50526607 [GRCh38]
Chr22:50965036 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1251G>T (p.Leu417=) single nucleotide variant not provided [RCV001501799] Chr22:50526050 [GRCh38]
Chr22:50964479 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1245C>G (p.Leu415=) single nucleotide variant not provided [RCV001469851] Chr22:50526056 [GRCh38]
Chr22:50964485 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1416C>T (p.Pro472=) single nucleotide variant not provided [RCV001482453] Chr22:50525803 [GRCh38]
Chr22:50964232 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1301-2_1305del deletion not provided [RCV001508949] Chr22:50525914..50525920 [GRCh38]
Chr22:50964343..50964349 [GRCh37]
Chr22:22q13.33
likely pathogenic
NM_001953.5(TYMP):c.330G>C (p.Gln110His) single nucleotide variant not provided [RCV001508951] Chr22:50529223 [GRCh38]
Chr22:50967652 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1270C>T (p.Leu424=) single nucleotide variant not provided [RCV001416874] Chr22:50526031 [GRCh38]
Chr22:50964460 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1164C>A (p.Thr388=) single nucleotide variant not provided [RCV001482647] Chr22:50526137 [GRCh38]
Chr22:50964566 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1323C>T (p.His441=) single nucleotide variant not provided [RCV001505968] Chr22:50525896 [GRCh38]
Chr22:50964325 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1140G>A (p.Glu380=) single nucleotide variant not provided [RCV001473583] Chr22:50526265 [GRCh38]
Chr22:50964694 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.214+10G>C single nucleotide variant not provided [RCV001461556] Chr22:50529486 [GRCh38]
Chr22:50967915 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1164C>T (p.Thr388=) single nucleotide variant not provided [RCV001473849] Chr22:50526137 [GRCh38]
Chr22:50964566 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.825G>A (p.Lys275=) single nucleotide variant not provided [RCV001503255] Chr22:50526679 [GRCh38]
Chr22:50965108 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1300+7G>A single nucleotide variant not provided [RCV001402627] Chr22:50525994 [GRCh38]
Chr22:50964423 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.30G>A (p.Gly10=) single nucleotide variant not provided [RCV001457861] Chr22:50529680 [GRCh38]
Chr22:50968109 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.339G>A (p.Val113=) single nucleotide variant not provided [RCV001473983] Chr22:50529214 [GRCh38]
Chr22:50967643 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1077C>T (p.Ala359=) single nucleotide variant not provided [RCV001480186] Chr22:50526328 [GRCh38]
Chr22:50964757 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.156G>A (p.Ala52=) single nucleotide variant not provided [RCV001474036] Chr22:50529554 [GRCh38]
Chr22:50967983 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1032G>A (p.Glu344=) single nucleotide variant not provided [RCV001503331] Chr22:50526373 [GRCh38]
Chr22:50964802 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.153A>G (p.Glu51=) single nucleotide variant not provided [RCV001489133] Chr22:50529557 [GRCh38]
Chr22:50967986 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1374G>C (p.Ala458=) single nucleotide variant not provided [RCV001492871] Chr22:50525845 [GRCh38]
Chr22:50964274 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1275C>G (p.Val425=) single nucleotide variant not provided [RCV001426306] Chr22:50526026 [GRCh38]
Chr22:50964455 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.463T>C (p.Leu155=) single nucleotide variant not provided [RCV001503428] Chr22:50528565 [GRCh38]
Chr22:50966994 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.906A>G (p.Leu302=) single nucleotide variant not provided [RCV001477583] Chr22:50526598 [GRCh38]
Chr22:50965027 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1159+10G>C single nucleotide variant not provided [RCV001403517] Chr22:50526236 [GRCh38]
Chr22:50964665 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.552C>T (p.Ile184=) single nucleotide variant not provided [RCV001393307] Chr22:50527682 [GRCh38]
Chr22:50966111 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.471G>A (p.Lys157=) single nucleotide variant not provided [RCV001493209] Chr22:50528557 [GRCh38]
Chr22:50966986 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1149G>A (p.Ala383=) single nucleotide variant not provided [RCV001501439] Chr22:50526256 [GRCh38]
Chr22:50964685 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.774G>A (p.Val258=) single nucleotide variant not provided [RCV001466501] Chr22:50526730 [GRCh38]
Chr22:50965159 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1185G>A (p.Leu395=) single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001832682]|not provided [RCV001512517] Chr22:50526116 [GRCh38]
Chr22:50964545 [GRCh37]
Chr22:22q13.33
benign|likely benign
NM_001953.5(TYMP):c.646+7T>C single nucleotide variant not provided [RCV001493633] Chr22:50527581 [GRCh38]
Chr22:50966010 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1152C>T (p.Pro384=) single nucleotide variant not provided [RCV001441004] Chr22:50526253 [GRCh38]
Chr22:50964682 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.753G>C (p.Leu251=) single nucleotide variant not provided [RCV001432608] Chr22:50527177 [GRCh38]
Chr22:50965606 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1159+10G>A single nucleotide variant not provided [RCV001402053] Chr22:50526236 [GRCh38]
Chr22:50964665 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.573G>A (p.Leu191=) single nucleotide variant not provided [RCV001440892] Chr22:50527661 [GRCh38]
Chr22:50966090 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.165G>A (p.Arg55=) single nucleotide variant not provided [RCV001399521] Chr22:50529545 [GRCh38]
Chr22:50967974 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.696G>C (p.Val232=) single nucleotide variant not provided [RCV001430319] Chr22:50527234 [GRCh38]
Chr22:50965663 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1104C>A (p.Arg368=) single nucleotide variant not provided [RCV001407020] Chr22:50526301 [GRCh38]
Chr22:50964730 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.831G>C (p.Leu277=) single nucleotide variant not provided [RCV001392904] Chr22:50526673 [GRCh38]
Chr22:50965102 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1083C>T (p.Cys361=) single nucleotide variant not provided [RCV001430322] Chr22:50526322 [GRCh38]
Chr22:50964751 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.602C>A (p.Ala201Asp) single nucleotide variant not provided [RCV001439126] Chr22:50527632 [GRCh38]
Chr22:50966061 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1183C>T (p.Leu395=) single nucleotide variant not provided [RCV001398230] Chr22:50526118 [GRCh38]
Chr22:50964547 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1159+9C>T single nucleotide variant not provided [RCV001416037] Chr22:50526237 [GRCh38]
Chr22:50964666 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1300+9C>T single nucleotide variant not provided [RCV001429337] Chr22:50525992 [GRCh38]
Chr22:50964421 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.912C>T (p.Asp304=) single nucleotide variant not provided [RCV001441834] Chr22:50526592 [GRCh38]
Chr22:50965021 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1065T>C (p.Gly355=) single nucleotide variant not provided [RCV001426356] Chr22:50526340 [GRCh38]
Chr22:50964769 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1071C>A (p.Ala357=) single nucleotide variant not provided [RCV001428820] Chr22:50526334 [GRCh38]
Chr22:50964763 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.766-4G>A single nucleotide variant not provided [RCV001403933] Chr22:50526742 [GRCh38]
Chr22:50965171 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.108C>A (p.Leu36=) single nucleotide variant not provided [RCV001434662] Chr22:50529602 [GRCh38]
Chr22:50968031 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1014G>C (p.Ser338=) single nucleotide variant not provided [RCV001408430] Chr22:50526391 [GRCh38]
Chr22:50964820 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.963G>A (p.Gly321=) single nucleotide variant not provided [RCV001410996] Chr22:50526442 [GRCh38]
Chr22:50964871 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.45T>G (p.Pro15=) single nucleotide variant not provided [RCV001437787] Chr22:50529665 [GRCh38]
Chr22:50968094 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.853C>T (p.Leu285=) single nucleotide variant not provided [RCV001402651] Chr22:50526651 [GRCh38]
Chr22:50965080 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.928+10A>G single nucleotide variant not provided [RCV001445620] Chr22:50526566 [GRCh38]
Chr22:50964995 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.928+9G>C single nucleotide variant not provided [RCV001438355] Chr22:50526567 [GRCh38]
Chr22:50964996 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.317_330del (p.Glu106fs) deletion not provided [RCV001385921] Chr22:50529223..50529236 [GRCh38]
Chr22:50967652..50967665 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.237A>T (p.Arg79=) single nucleotide variant not provided [RCV001428528] Chr22:50529316 [GRCh38]
Chr22:50967745 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1380A>T (p.Val460=) single nucleotide variant not provided [RCV001445619] Chr22:50525839 [GRCh38]
Chr22:50964268 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1253G>C (p.Gly418Ala) single nucleotide variant not provided [RCV001508950] Chr22:50526048 [GRCh38]
Chr22:50964477 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1302G>A (p.Gly434=) single nucleotide variant not provided [RCV001472960] Chr22:50525917 [GRCh38]
Chr22:50964346 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1233T>G (p.Ala411=) single nucleotide variant not provided [RCV001464680] Chr22:50526068 [GRCh38]
Chr22:50964497 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.156G>C (p.Ala52=) single nucleotide variant not provided [RCV001495919] Chr22:50529554 [GRCh38]
Chr22:50967983 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1159+7G>T single nucleotide variant not provided [RCV001491229] Chr22:50526239 [GRCh38]
Chr22:50964668 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.183G>C (p.Val61=) single nucleotide variant not provided [RCV001496526] Chr22:50529527 [GRCh38]
Chr22:50967956 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.929-5C>T single nucleotide variant not provided [RCV001499899] Chr22:50526481 [GRCh38]
Chr22:50964910 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.111G>A (p.Pro37=) single nucleotide variant not provided [RCV001479699] Chr22:50529599 [GRCh38]
Chr22:50968028 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.5C>T (p.Ala2Val) single nucleotide variant Inborn genetic diseases [RCV004681189]|not provided [RCV001452130] Chr22:50529705 [GRCh38]
Chr22:50968134 [GRCh37]
Chr22:22q13.33
likely benign|uncertain significance
NM_001953.5(TYMP):c.1308C>T (p.Pro436=) single nucleotide variant not provided [RCV001459603] Chr22:50525911 [GRCh38]
Chr22:50964340 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1160-29C>G single nucleotide variant not provided [RCV001716639] Chr22:50526170 [GRCh38]
Chr22:50964599 [GRCh37]
Chr22:22q13.33
benign
NM_001953.5(TYMP):c.1160-7C>T single nucleotide variant not provided [RCV001488218] Chr22:50526148 [GRCh38]
Chr22:50964577 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.928+7G>A single nucleotide variant not provided [RCV001488222] Chr22:50526569 [GRCh38]
Chr22:50964998 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1050G>A (p.Gln350=) single nucleotide variant not provided [RCV001478278] Chr22:50526355 [GRCh38]
Chr22:50964784 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.363G>A (p.Val121=) single nucleotide variant not provided [RCV001501625] Chr22:50529190 [GRCh38]
Chr22:50967619 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1159+1G>T single nucleotide variant not provided [RCV001379850] Chr22:50526245 [GRCh38]
Chr22:50964674 [GRCh37]
Chr22:22q13.33
pathogenic|likely pathogenic
NM_001953.5(TYMP):c.120C>G (p.Ile40Met) single nucleotide variant not provided [RCV001508952] Chr22:50529590 [GRCh38]
Chr22:50968019 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.89C>T (p.Ser30Leu) single nucleotide variant not provided [RCV001508953] Chr22:50529621 [GRCh38]
Chr22:50968050 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.384C>T (p.Val128=) single nucleotide variant not provided [RCV001477427] Chr22:50529169 [GRCh38]
Chr22:50967598 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1440G>A (p.Pro480=) single nucleotide variant not provided [RCV001468478] Chr22:50525779 [GRCh38]
Chr22:50964208 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1363C>T (p.Leu455=) single nucleotide variant not provided [RCV001477532] Chr22:50525856 [GRCh38]
Chr22:50964285 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1305C>A (p.Thr435=) single nucleotide variant not provided [RCV001453066] Chr22:50525914 [GRCh38]
Chr22:50964343 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.646+9A>T single nucleotide variant not provided [RCV001495892] Chr22:50527579 [GRCh38]
Chr22:50966008 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.418-6C>T single nucleotide variant not provided [RCV001485919] Chr22:50528616 [GRCh38]
Chr22:50967045 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.20del (p.Pro7fs) deletion Mitochondrial DNA depletion syndrome 1 [RCV003463022]|not provided [RCV001388327] Chr22:50529690 [GRCh38]
Chr22:50968119 [GRCh37]
Chr22:22q13.33
pathogenic|likely pathogenic
NM_001953.5(TYMP):c.807G>T (p.Ala269=) single nucleotide variant not provided [RCV001488170] Chr22:50526697 [GRCh38]
Chr22:50965126 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.903C>T (p.Asp301=) single nucleotide variant not provided [RCV001491149] Chr22:50526601 [GRCh38]
Chr22:50965030 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.192G>A (p.Gly64=) single nucleotide variant not provided [RCV001498606] Chr22:50529518 [GRCh38]
Chr22:50967947 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1160-16_1160-7dup duplication not provided [RCV001481709] Chr22:50526147..50526148 [GRCh38]
Chr22:50964576..50964577 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1272G>T (p.Leu424=) single nucleotide variant not provided [RCV001478024] Chr22:50526029 [GRCh38]
Chr22:50964458 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.48T>G (p.Gly16=) single nucleotide variant not provided [RCV001484861] Chr22:50529662 [GRCh38]
Chr22:50968091 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1056G>A (p.Val352=) single nucleotide variant not provided [RCV001497687] Chr22:50526349 [GRCh38]
Chr22:50964778 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1188G>A (p.Pro396=) single nucleotide variant not provided [RCV001432021] Chr22:50526113 [GRCh38]
Chr22:50964542 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.624G>A (p.Val208=) single nucleotide variant not provided [RCV001434236] Chr22:50527610 [GRCh38]
Chr22:50966039 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1122C>G (p.Arg374=) single nucleotide variant not provided [RCV001451735] Chr22:50526283 [GRCh38]
Chr22:50964712 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.646+8G>T single nucleotide variant not provided [RCV001505197] Chr22:50527580 [GRCh38]
Chr22:50966009 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1269G>A (p.Leu423=) single nucleotide variant not provided [RCV001476711] Chr22:50526032 [GRCh38]
Chr22:50964461 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1301-4G>C single nucleotide variant not provided [RCV001453581] Chr22:50525922 [GRCh38]
Chr22:50964351 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.90G>T (p.Ser30=) single nucleotide variant not provided [RCV001451895] Chr22:50529620 [GRCh38]
Chr22:50968049 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.417+10C>T single nucleotide variant not provided [RCV001427588] Chr22:50529126 [GRCh38]
Chr22:50967555 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.618C>T (p.Ala206=) single nucleotide variant not provided [RCV001503856] Chr22:50527616 [GRCh38]
Chr22:50966045 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.267G>C (p.Ser89=) single nucleotide variant not provided [RCV001416415] Chr22:50529286 [GRCh38]
Chr22:50967715 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1224_1225insT (p.Ser409Ter) insertion not provided [RCV001386342] Chr22:50526076..50526077 [GRCh38]
Chr22:50964505..50964506 [GRCh37]
Chr22:22q13.33
pathogenic
NC_000022.10:g.(?_50297466)_(51066227_?)del deletion ALG12-congenital disorder of glycosylation [RCV001384242] Chr22:50297466..51066227 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.1275C>A (p.Val425=) single nucleotide variant not provided [RCV001495063] Chr22:50526026 [GRCh38]
Chr22:50964455 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.516+8G>A single nucleotide variant not provided [RCV001504201] Chr22:50528504 [GRCh38]
Chr22:50966933 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.726C>T (p.Phe242=) single nucleotide variant not provided [RCV001477146] Chr22:50527204 [GRCh38]
Chr22:50965633 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1428C>T (p.Leu476=) single nucleotide variant not provided [RCV001495378] Chr22:50525791 [GRCh38]
Chr22:50964220 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1109A>T (p.Gln370Leu) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV002272908] Chr22:50526296 [GRCh38]
Chr22:50964725 [GRCh37]
Chr22:22q13.33
uncertain significance
Single allele duplication Chromosome 22q13 duplication syndrome [RCV002280361] Chr22:49883237..50740457 [GRCh38]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.121C>G (p.Arg41Gly) single nucleotide variant not provided [RCV001771590] Chr22:50529589 [GRCh38]
Chr22:50968018 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.809T>C (p.Leu270Pro) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV001783996]|not provided [RCV002034609] Chr22:50526695 [GRCh38]
Chr22:50965124 [GRCh37]
Chr22:22q13.33
likely pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47554026-51186813)x1 copy number loss not provided [RCV001795845] Chr22:47554026..51186813 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
NM_001953.5(TYMP):c.1142T>G (p.Leu381Arg) single nucleotide variant not provided [RCV001770621] Chr22:50526263 [GRCh38]
Chr22:50964692 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1286A>T (p.Gln429Leu) single nucleotide variant not provided [RCV001774669] Chr22:50526015 [GRCh38]
Chr22:50964444 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.516+1G>C single nucleotide variant not provided [RCV003709117] Chr22:50528511 [GRCh38]
Chr22:50966940 [GRCh37]
Chr22:22q13.33
pathogenic|likely pathogenic
NM_001953.5(TYMP):c.729del (p.Asn244fs) deletion Mitochondrial DNA depletion syndrome 1 [RCV003464137]|not provided [RCV002034576] Chr22:50527201 [GRCh38]
Chr22:50965630 [GRCh37]
Chr22:22q13.33
pathogenic|likely pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1 copy number loss Phelan-McDermid syndrome [RCV001801178] Chr22:42321321..51244066 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
NM_001953.5(TYMP):c.862G>A (p.Glu288Lys) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV002503214]|not provided [RCV001767797] Chr22:50526642 [GRCh38]
Chr22:50965071 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1198_1203del (p.Val400_Leu401del) deletion Mitochondrial DNA depletion syndrome 1 [RCV001805744] Chr22:50526098..50526103 [GRCh38]
Chr22:50964527..50964532 [GRCh37]
Chr22:22q13.33
pathogenic|likely pathogenic
NM_001953.5(TYMP):c.908G>A (p.Arg303Lys) single nucleotide variant not provided [RCV001949821] Chr22:50526596 [GRCh38]
Chr22:50965025 [GRCh37]
Chr22:22q13.33
uncertain significance
NC_000022.10:g.(?_50167881)_(51066207_?)dup duplication ALG12-congenital disorder of glycosylation [RCV001950618] Chr22:50167881..51066207 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.736G>A (p.Glu246Lys) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV002482771]|not provided [RCV001896627] Chr22:50527194 [GRCh38]
Chr22:50965623 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.577C>T (p.Pro193Ser) single nucleotide variant not provided [RCV001988067] Chr22:50527657 [GRCh38]
Chr22:50966086 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.319G>A (p.Ala107Thr) single nucleotide variant not provided [RCV002008671] Chr22:50529234 [GRCh38]
Chr22:50967663 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.647-1G>A single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV004571893]|not provided [RCV002003360] Chr22:50527284 [GRCh38]
Chr22:50965713 [GRCh37]
Chr22:22q13.33
likely pathogenic
NC_000022.10:g.(?_50885571)_(50965732_?)dup duplication not provided [RCV002020698] Chr22:50885571..50965732 [GRCh37]
Chr22:22q13.33
uncertain significance
GRCh37/hg19 22q13.33(chr22:49729747-51197838) copy number loss not specified [RCV002052764] Chr22:49729747..51197838 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.593T>C (p.Leu198Pro) single nucleotide variant not provided [RCV001910763] Chr22:50527641 [GRCh38]
Chr22:50966070 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1251G>A (p.Leu417=) single nucleotide variant not provided [RCV002035144] Chr22:50526050 [GRCh38]
Chr22:50964479 [GRCh37]
Chr22:22q13.33
likely benign
GRCh37/hg19 22q13.31-13.33(chr22:47567951-51183840)x1 copy number loss not provided [RCV001832912] Chr22:47567951..51183840 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
NM_001953.5(TYMP):c.1254G>A (p.Gly418=) single nucleotide variant not provided [RCV002037832] Chr22:50526047 [GRCh38]
Chr22:50964476 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.694dup (p.Val232fs) duplication not provided [RCV001872978] Chr22:50527235..50527236 [GRCh38]
Chr22:50965664..50965665 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.857_858insT (p.Glu286fs) insertion not provided [RCV001970155] Chr22:50526646..50526647 [GRCh38]
Chr22:50965075..50965076 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.1279G>C (p.Val427Leu) single nucleotide variant Inborn genetic diseases [RCV003170161]|not provided [RCV002007113] Chr22:50526022 [GRCh38]
Chr22:50964451 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.214+1G>T single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV002498041]|not provided [RCV002040737] Chr22:50529495 [GRCh38]
Chr22:50967924 [GRCh37]
Chr22:22q13.33
likely pathogenic
NM_001953.5(TYMP):c.178G>A (p.Ala60Thr) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV002507657]|not provided [RCV001969969] Chr22:50529532 [GRCh38]
Chr22:50967961 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.4G>A (p.Ala2Thr) single nucleotide variant not provided [RCV001912244] Chr22:50529706 [GRCh38]
Chr22:50968135 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.750G>A (p.Glu250=) single nucleotide variant TYMP-related disorder [RCV003892916]|not provided [RCV001890514] Chr22:50527180 [GRCh38]
Chr22:50965609 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.861_862dup (p.Glu288fs) duplication not provided [RCV002007349] Chr22:50526641..50526642 [GRCh38]
Chr22:50965070..50965071 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.977G>T (p.Gly326Val) single nucleotide variant not provided [RCV002040698] Chr22:50526428 [GRCh38]
Chr22:50964857 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1310G>A (p.Trp437Ter) single nucleotide variant not provided [RCV002016630] Chr22:50525909 [GRCh38]
Chr22:50964338 [GRCh37]
Chr22:22q13.33
pathogenic|uncertain significance
GRCh37/hg19 22q13.2-13.33(chr22:42972719-51197838) copy number loss not specified [RCV002052757] Chr22:42972719..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
NC_000022.10:g.(?_50502853)_(51066207_?)dup duplication not provided [RCV001944250] Chr22:50502853..51066207 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.235C>T (p.Arg79Ter) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV003147714]|not provided [RCV001950980] Chr22:50529318 [GRCh38]
Chr22:50967747 [GRCh37]
Chr22:22q13.33
pathogenic|likely pathogenic
NM_001953.5(TYMP):c.1336G>A (p.Ala446Thr) single nucleotide variant not provided [RCV001886587] Chr22:50525883 [GRCh38]
Chr22:50964312 [GRCh37]
Chr22:22q13.33
uncertain significance
NC_000022.10:g.(?_50906785)_(51066207_?)dup duplication Metachromatic leukodystrophy [RCV001900243] Chr22:50906785..51066207 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1237G>C (p.Glu413Gln) single nucleotide variant not provided [RCV001926103] Chr22:50526064 [GRCh38]
Chr22:50964493 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1325G>A (p.Arg442Gln) single nucleotide variant not provided [RCV001981956] Chr22:50525894 [GRCh38]
Chr22:50964323 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1298G>T (p.Arg433Leu) single nucleotide variant not provided [RCV001989132] Chr22:50526003 [GRCh38]
Chr22:50964432 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1330_1351del (p.Gly444fs) deletion not provided [RCV001989762] Chr22:50525868..50525889 [GRCh38]
Chr22:50964297..50964318 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.773T>C (p.Val258Ala) single nucleotide variant not provided [RCV002027411] Chr22:50526731 [GRCh38]
Chr22:50965160 [GRCh37]
Chr22:22q13.33
uncertain significance
NC_000022.10:g.(?_50885571)_(51021210_?)del deletion Megaconial type congenital muscular dystrophy [RCV001918329] Chr22:50885571..51021210 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.1429G>A (p.Val477Ile) single nucleotide variant not provided [RCV001913483] Chr22:50525790 [GRCh38]
Chr22:50964219 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.28G>A (p.Gly10Arg) single nucleotide variant Inborn genetic diseases [RCV004042571]|not provided [RCV001898753] Chr22:50529682 [GRCh38]
Chr22:50968111 [GRCh37]
Chr22:22q13.33
likely benign|uncertain significance
NM_001953.5(TYMP):c.937C>G (p.Leu313Val) single nucleotide variant not provided [RCV001978410] Chr22:50526468 [GRCh38]
Chr22:50964897 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1062dup (p.Gly355fs) duplication not provided [RCV001891615] Chr22:50526342..50526343 [GRCh38]
Chr22:50964771..50964772 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.559C>T (p.Gln187Ter) single nucleotide variant not provided [RCV001884960] Chr22:50527675 [GRCh38]
Chr22:50966104 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.772G>A (p.Val258Met) single nucleotide variant not provided [RCV001886232] Chr22:50526732 [GRCh38]
Chr22:50965161 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1128_1153del (p.Glu377fs) deletion TYMP-related disorder [RCV003401967]|not provided [RCV001942329] Chr22:50526252..50526277 [GRCh38]
Chr22:50964681..50964706 [GRCh37]
Chr22:22q13.33
pathogenic|likely pathogenic
NM_001953.5(TYMP):c.136G>T (p.Gly46Ter) single nucleotide variant not provided [RCV001921206] Chr22:50529574 [GRCh38]
Chr22:50968003 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.647-5C>A single nucleotide variant not provided [RCV001990015] Chr22:50527288 [GRCh38]
Chr22:50965717 [GRCh37]
Chr22:22q13.33
likely benign|uncertain significance
NM_001953.5(TYMP):c.164G>A (p.Arg55Lys) single nucleotide variant Inborn genetic diseases [RCV002554316]|not provided [RCV001917661] Chr22:50529546 [GRCh38]
Chr22:50967975 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.199C>T (p.Gln67Ter) single nucleotide variant not provided [RCV001918670] Chr22:50529511 [GRCh38]
Chr22:50967940 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.1156G>T (p.Asp386Tyr) single nucleotide variant not provided [RCV001944252] Chr22:50526249 [GRCh38]
Chr22:50964678 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1398A>C (p.Pro466=) single nucleotide variant not provided [RCV002079530] Chr22:50525821 [GRCh38]
Chr22:50964250 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1215G>A (p.Gly405=) single nucleotide variant not provided [RCV002201087] Chr22:50526086 [GRCh38]
Chr22:50964515 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.978C>T (p.Gly326=) single nucleotide variant not provided [RCV002111030] Chr22:50526427 [GRCh38]
Chr22:50964856 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1239G>A (p.Glu413=) single nucleotide variant not provided [RCV002201013] Chr22:50526062 [GRCh38]
Chr22:50964491 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1236G>A (p.Gly412=) single nucleotide variant not provided [RCV002089294] Chr22:50526065 [GRCh38]
Chr22:50964494 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1301-10C>T single nucleotide variant not provided [RCV002210677] Chr22:50525928 [GRCh38]
Chr22:50964357 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.929-22_929-6dup duplication not provided [RCV002090245] Chr22:50526481..50526482 [GRCh38]
Chr22:50964910..50964911 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1159+14dup duplication not provided [RCV002098093] Chr22:50526231..50526232 [GRCh38]
Chr22:50964660..50964661 [GRCh37]
Chr22:22q13.33
benign
NM_001953.5(TYMP):c.411C>T (p.Gly137=) single nucleotide variant not provided [RCV002092247] Chr22:50529142 [GRCh38]
Chr22:50967571 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1218C>T (p.Ala406=) single nucleotide variant not provided [RCV002115639] Chr22:50526083 [GRCh38]
Chr22:50964512 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.258G>A (p.Glu86=) single nucleotide variant not provided [RCV002127732] Chr22:50529295 [GRCh38]
Chr22:50967724 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1212C>T (p.Leu404=) single nucleotide variant not provided [RCV002127918] Chr22:50526089 [GRCh38]
Chr22:50964518 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.612G>A (p.Val204=) single nucleotide variant not provided [RCV002169275] Chr22:50527622 [GRCh38]
Chr22:50966051 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1160-8C>A single nucleotide variant not provided [RCV002147271] Chr22:50526149 [GRCh38]
Chr22:50964578 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.561G>A (p.Gln187=) single nucleotide variant not provided [RCV002085037] Chr22:50527673 [GRCh38]
Chr22:50966102 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1437G>A (p.Pro479=) single nucleotide variant not provided [RCV002079389] Chr22:50525782 [GRCh38]
Chr22:50964211 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.162C>A (p.Ile54=) single nucleotide variant not provided [RCV002206482] Chr22:50529548 [GRCh38]
Chr22:50967977 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.924G>A (p.Thr308=) single nucleotide variant not provided [RCV002149238] Chr22:50526580 [GRCh38]
Chr22:50965009 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.18C>T (p.Thr6=) single nucleotide variant not provided [RCV002087332] Chr22:50529692 [GRCh38]
Chr22:50968121 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1227C>T (p.Ser409=) single nucleotide variant not provided [RCV002094657] Chr22:50526074 [GRCh38]
Chr22:50964503 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.687T>C (p.Ala229=) single nucleotide variant not provided [RCV002191155] Chr22:50527243 [GRCh38]
Chr22:50965672 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1305C>T (p.Thr435=) single nucleotide variant not provided [RCV002125572] Chr22:50525914 [GRCh38]
Chr22:50964343 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.766-5C>T single nucleotide variant not provided [RCV002107480] Chr22:50526743 [GRCh38]
Chr22:50965172 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.647-18C>T single nucleotide variant not provided [RCV002087983] Chr22:50527301 [GRCh38]
Chr22:50965730 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1160-13C>T single nucleotide variant not provided [RCV002148128] Chr22:50526154 [GRCh38]
Chr22:50964583 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1335C>G (p.Pro445=) single nucleotide variant not provided [RCV002163083] Chr22:50525884 [GRCh38]
Chr22:50964313 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1160-9T>C single nucleotide variant not provided [RCV002159462] Chr22:50526150 [GRCh38]
Chr22:50964579 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1446A>G (p.Gln482=) single nucleotide variant not provided [RCV002162497] Chr22:50525773 [GRCh38]
Chr22:50964202 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.928+8G>A single nucleotide variant not provided [RCV002087254] Chr22:50526568 [GRCh38]
Chr22:50964997 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.708C>T (p.Phe236=) single nucleotide variant not provided [RCV002074809] Chr22:50527222 [GRCh38]
Chr22:50965651 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1160-12dup duplication not provided [RCV002089306] Chr22:50526152..50526153 [GRCh38]
Chr22:50964581..50964582 [GRCh37]
Chr22:22q13.33
benign
NM_001953.5(TYMP):c.1344C>T (p.Ser448=) single nucleotide variant not provided [RCV002172814] Chr22:50525875 [GRCh38]
Chr22:50964304 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1300+14C>A single nucleotide variant not provided [RCV002180030] Chr22:50525987 [GRCh38]
Chr22:50964416 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.810G>A (p.Leu270=) single nucleotide variant not provided [RCV002209512] Chr22:50526694 [GRCh38]
Chr22:50965123 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1159+11G>A single nucleotide variant not provided [RCV002100970] Chr22:50526235 [GRCh38]
Chr22:50964664 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1146G>T (p.Leu382=) single nucleotide variant not provided [RCV002078716] Chr22:50526259 [GRCh38]
Chr22:50964688 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.929-7C>T single nucleotide variant not provided [RCV002075204] Chr22:50526483 [GRCh38]
Chr22:50964912 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1368G>A (p.Gln456=) single nucleotide variant not provided [RCV002071644] Chr22:50525851 [GRCh38]
Chr22:50964280 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1203G>A (p.Leu401=) single nucleotide variant not provided [RCV002196266] Chr22:50526098 [GRCh38]
Chr22:50964527 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.516+16G>A single nucleotide variant not provided [RCV002191764] Chr22:50528496 [GRCh38]
Chr22:50966925 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1300+10G>A single nucleotide variant not provided [RCV002201567] Chr22:50525991 [GRCh38]
Chr22:50964420 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1113G>A (p.Leu371=) single nucleotide variant not provided [RCV002201994] Chr22:50526292 [GRCh38]
Chr22:50964721 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.876C>G (p.Leu292=) single nucleotide variant not provided [RCV002205867] Chr22:50526628 [GRCh38]
Chr22:50965057 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.387C>G (p.Leu129=) single nucleotide variant not provided [RCV002075485] Chr22:50529166 [GRCh38]
Chr22:50967595 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.747G>C (p.Arg249=) single nucleotide variant not provided [RCV002152254] Chr22:50527183 [GRCh38]
Chr22:50965612 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.517-18C>T single nucleotide variant not provided [RCV002152400] Chr22:50527735 [GRCh38]
Chr22:50966164 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1301-4G>A single nucleotide variant not provided [RCV002147111] Chr22:50525922 [GRCh38]
Chr22:50964351 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.939G>A (p.Leu313=) single nucleotide variant not provided [RCV002174318] Chr22:50526466 [GRCh38]
Chr22:50964895 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.234C>T (p.Ile78=) single nucleotide variant not provided [RCV002114311] Chr22:50529319 [GRCh38]
Chr22:50967748 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.954A>G (p.Gly318=) single nucleotide variant not provided [RCV002151454] Chr22:50526451 [GRCh38]
Chr22:50964880 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.765+8G>C single nucleotide variant not provided [RCV002133193] Chr22:50527157 [GRCh38]
Chr22:50965586 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1176C>G (p.Val392=) single nucleotide variant not provided [RCV002102022] Chr22:50526125 [GRCh38]
Chr22:50964554 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.171C>T (p.Phe57=) single nucleotide variant TYMP-related disorder [RCV003893197]|not provided [RCV002214594] Chr22:50529539 [GRCh38]
Chr22:50967968 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.93A>G (p.Pro31=) single nucleotide variant not provided [RCV002134216] Chr22:50529617 [GRCh38]
Chr22:50968046 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.543C>G (p.Gly181=) single nucleotide variant not provided [RCV002165245] Chr22:50527691 [GRCh38]
Chr22:50966120 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1160-14C>T single nucleotide variant not provided [RCV002105325] Chr22:50526155 [GRCh38]
Chr22:50964584 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.316G>C (p.Glu106Gln) single nucleotide variant not provided [RCV002134207] Chr22:50529237 [GRCh38]
Chr22:50967666 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.369C>T (p.Asp123=) single nucleotide variant not provided [RCV002084614] Chr22:50529184 [GRCh38]
Chr22:50967613 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1146G>A (p.Leu382=) single nucleotide variant not provided [RCV002168722] Chr22:50526259 [GRCh38]
Chr22:50964688 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1131G>A (p.Glu377=) single nucleotide variant not provided [RCV002169503] Chr22:50526274 [GRCh38]
Chr22:50964703 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.45T>C (p.Pro15=) single nucleotide variant not provided [RCV002079042] Chr22:50529665 [GRCh38]
Chr22:50968094 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.647-6C>T single nucleotide variant not provided [RCV002194850] Chr22:50527289 [GRCh38]
Chr22:50965718 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.418-9G>C single nucleotide variant not provided [RCV002195836] Chr22:50528619 [GRCh38]
Chr22:50967048 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.909G>A (p.Arg303=) single nucleotide variant not provided [RCV002089981] Chr22:50526595 [GRCh38]
Chr22:50965024 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.215-10del deletion not provided [RCV002129608] Chr22:50529348 [GRCh38]
Chr22:50967777 [GRCh37]
Chr22:22q13.33
benign
NM_001953.5(TYMP):c.1062C>T (p.Pro354=) single nucleotide variant not provided [RCV002211914] Chr22:50526343 [GRCh38]
Chr22:50964772 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.264C>A (p.Thr88=) single nucleotide variant not provided [RCV002215544] Chr22:50529289 [GRCh38]
Chr22:50967718 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1159+14G>T single nucleotide variant not provided [RCV002103391] Chr22:50526232 [GRCh38]
Chr22:50964661 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.929-11C>A single nucleotide variant not provided [RCV002134816] Chr22:50526487 [GRCh38]
Chr22:50964916 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.829C>T (p.Leu277=) single nucleotide variant not provided [RCV002097141] Chr22:50526675 [GRCh38]
Chr22:50965104 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.870G>A (p.Ala290=) single nucleotide variant not provided [RCV002180932] Chr22:50526634 [GRCh38]
Chr22:50965063 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.381G>A (p.Leu127=) single nucleotide variant not provided [RCV002176289] Chr22:50529172 [GRCh38]
Chr22:50967601 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.741G>A (p.Gln247=) single nucleotide variant not provided [RCV002182009] Chr22:50527189 [GRCh38]
Chr22:50965618 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.876C>T (p.Leu292=) single nucleotide variant not provided [RCV002204675] Chr22:50526628 [GRCh38]
Chr22:50965057 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.42G>A (p.Ala14=) single nucleotide variant not provided [RCV002176649] Chr22:50529668 [GRCh38]
Chr22:50968097 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.27C>T (p.Thr9=) single nucleotide variant not provided [RCV002180549] Chr22:50529683 [GRCh38]
Chr22:50968112 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.486T>C (p.Pro162=) single nucleotide variant not provided [RCV002220081] Chr22:50528542 [GRCh38]
Chr22:50966971 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.813C>A (p.Thr271=) single nucleotide variant not provided [RCV002139024] Chr22:50526691 [GRCh38]
Chr22:50965120 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.345G>A (p.Lys115=) single nucleotide variant not provided [RCV002156205] Chr22:50529208 [GRCh38]
Chr22:50967637 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.300G>A (p.Gln100=) single nucleotide variant not provided [RCV002177615] Chr22:50529253 [GRCh38]
Chr22:50967682 [GRCh37]
Chr22:22q13.33
likely benign
Single allele duplication not provided [RCV002227667] Chr22:50023390..50594061 [GRCh38]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.937C>T (p.Leu313=) single nucleotide variant not provided [RCV002198988] Chr22:50526468 [GRCh38]
Chr22:50964897 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.177C>G (p.Ala59=) single nucleotide variant not provided [RCV002176690] Chr22:50529533 [GRCh38]
Chr22:50967962 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.278A>T (p.Gln93Leu) single nucleotide variant not provided [RCV002254446] Chr22:50529275 [GRCh38]
Chr22:50967704 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.864G>A (p.Glu288=) single nucleotide variant not provided [RCV002099300] Chr22:50526640 [GRCh38]
Chr22:50965069 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.252T>C (p.Asp84=) single nucleotide variant not provided [RCV002218246] Chr22:50529301 [GRCh38]
Chr22:50967730 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.396C>G (p.Ala132=) single nucleotide variant not provided [RCV002162854] Chr22:50529157 [GRCh38]
Chr22:50967586 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.684C>G (p.Ser228=) single nucleotide variant not provided [RCV002218415] Chr22:50527246 [GRCh38]
Chr22:50965675 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.418-10T>C single nucleotide variant not provided [RCV002162966] Chr22:50528620 [GRCh38]
Chr22:50967049 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.928+9G>A single nucleotide variant not provided [RCV002098188] Chr22:50526567 [GRCh38]
Chr22:50964996 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.885C>T (p.Asp295=) single nucleotide variant not provided [RCV002141190] Chr22:50526619 [GRCh38]
Chr22:50965048 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.360T>C (p.Gly120=) single nucleotide variant not provided [RCV002200756] Chr22:50529193 [GRCh38]
Chr22:50967622 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.936C>T (p.Ala312=) single nucleotide variant not provided [RCV002119087] Chr22:50526469 [GRCh38]
Chr22:50964898 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.789G>C (p.Gly263=) single nucleotide variant not provided [RCV002199975] Chr22:50526715 [GRCh38]
Chr22:50965144 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.933C>A (p.Gly311=) single nucleotide variant not provided [RCV002183390] Chr22:50526472 [GRCh38]
Chr22:50964901 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.928+9dup duplication not provided [RCV002141369] Chr22:50526566..50526567 [GRCh38]
Chr22:50964995..50964996 [GRCh37]
Chr22:22q13.33
benign
NM_001953.5(TYMP):c.724T>C (p.Phe242Leu) single nucleotide variant not provided [RCV004790898] Chr22:50527206 [GRCh38]
Chr22:50965635 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.58G>A (p.Gly20Arg) single nucleotide variant not provided [RCV003110751] Chr22:50529652 [GRCh38]
Chr22:50968081 [GRCh37]
Chr22:22q13.33
uncertain significance
NC_000022.10:g.(?_50167881)_(51066207_?)del deletion Metachromatic leukodystrophy [RCV003111291]|not provided [RCV003111290] Chr22:50167881..51066207 [GRCh37]
Chr22:22q13.33
pathogenic|no classifications from unflagged records
NC_000022.10:g.(?_50297486)_(51066207_?)del deletion not provided [RCV003116314] Chr22:50297486..51066207 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.372G>C (p.Lys124Asn) single nucleotide variant not provided [RCV003121453] Chr22:50529181 [GRCh38]
Chr22:50967610 [GRCh37]
Chr22:22q13.33
uncertain significance
GRCh37/hg19 22q13.33(chr22:49602454-51183869) copy number loss Phelan-McDermid syndrome [RCV002280637] Chr22:49602454..51183869 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.695T>C (p.Val232Ala) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV002272943] Chr22:50527235 [GRCh38]
Chr22:50965664 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.752T>C (p.Leu251Pro) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV002289355] Chr22:50527178 [GRCh38]
Chr22:50965607 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.890C>A (p.Ala297Glu) single nucleotide variant Inborn genetic diseases [RCV003295371] Chr22:50526614 [GRCh38]
Chr22:50965043 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1187C>T (p.Pro396Leu) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV002284032] Chr22:50526114 [GRCh38]
Chr22:50964543 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.829dup (p.Leu277fs) duplication Mitochondrial DNA depletion syndrome 1 [RCV002282855] Chr22:50526674..50526675 [GRCh38]
Chr22:50965103..50965104 [GRCh37]
Chr22:22q13.33
likely pathogenic
NM_001953.5(TYMP):c.1444C>T (p.Gln482Ter) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV002471686]|not provided [RCV004785732] Chr22:50525775 [GRCh38]
Chr22:50964204 [GRCh37]
Chr22:22q13.33
uncertain significance
GRCh37/hg19 22q13.2-13.33(chr22:44178749-51183840)x1 copy number loss not provided [RCV002472623] Chr22:44178749..51183840 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45977448-51197838)x1 copy number loss not provided [RCV002472642] Chr22:45977448..51197838 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45977415-51183840)x1 copy number loss not provided [RCV002472654] Chr22:45977415..51183840 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
NM_001953.5(TYMP):c.739C>T (p.Gln247Ter) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV004571218]|not provided [RCV002726776] Chr22:50527191 [GRCh38]
Chr22:50965620 [GRCh37]
Chr22:22q13.33
pathogenic|likely pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43436847-51188164)x3 copy number gain not provided [RCV002468433] Chr22:43436847..51188164 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
NM_001953.5(TYMP):c.323G>A (p.Trp108Ter) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV002468811]|not provided [RCV002573597] Chr22:50529230 [GRCh38]
Chr22:50967659 [GRCh37]
Chr22:22q13.33
pathogenic|likely pathogenic
NM_001953.5(TYMP):c.1300+2T>C single nucleotide variant not provided [RCV002750481] Chr22:50525999 [GRCh38]
Chr22:50964428 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.1338G>A (p.Ala446=) single nucleotide variant not provided [RCV002880510] Chr22:50525881 [GRCh38]
Chr22:50964310 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.83_90dup (p.Pro31fs) duplication not provided [RCV002816330] Chr22:50529619..50529620 [GRCh38]
Chr22:50968048..50968049 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.215-4C>T single nucleotide variant not provided [RCV002750976] Chr22:50529342 [GRCh38]
Chr22:50967771 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.161T>A (p.Ile54Asn) single nucleotide variant not provided [RCV003014228] Chr22:50529549 [GRCh38]
Chr22:50967978 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.928+1G>C single nucleotide variant not provided [RCV002880904] Chr22:50526575 [GRCh38]
Chr22:50965004 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.784C>G (p.Leu262Val) single nucleotide variant not provided [RCV002686214] Chr22:50526720 [GRCh38]
Chr22:50965149 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.245dup (p.Met83fs) duplication not provided [RCV002880462] Chr22:50529307..50529308 [GRCh38]
Chr22:50967736..50967737 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.1174G>C (p.Val392Leu) single nucleotide variant not provided [RCV003076125] Chr22:50526127 [GRCh38]
Chr22:50964556 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.928+12G>C single nucleotide variant not provided [RCV002618886] Chr22:50526564 [GRCh38]
Chr22:50964993 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.261G>A (p.Glu87=) single nucleotide variant not provided [RCV002866011] Chr22:50529292 [GRCh38]
Chr22:50967721 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1200G>A (p.Val400=) single nucleotide variant not provided [RCV003034730] Chr22:50526101 [GRCh38]
Chr22:50964530 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.234C>G (p.Ile78Met) single nucleotide variant not provided [RCV002730895] Chr22:50529319 [GRCh38]
Chr22:50967748 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.215-6T>A single nucleotide variant not provided [RCV003016944] Chr22:50529344 [GRCh38]
Chr22:50967773 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.623T>C (p.Val208Ala) single nucleotide variant not provided [RCV002819840] Chr22:50527611 [GRCh38]
Chr22:50966040 [GRCh37]
Chr22:22q13.33
likely pathogenic
NM_001953.5(TYMP):c.929-14G>A single nucleotide variant not provided [RCV003076820] Chr22:50526490 [GRCh38]
Chr22:50964919 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.214+4C>G single nucleotide variant not provided [RCV002795031] Chr22:50529492 [GRCh38]
Chr22:50967921 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.56C>T (p.Ser19Phe) single nucleotide variant Inborn genetic diseases [RCV002865032] Chr22:50529654 [GRCh38]
Chr22:50968083 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1208A>G (p.Glu403Gly) single nucleotide variant Inborn genetic diseases [RCV002883714] Chr22:50526093 [GRCh38]
Chr22:50964522 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1247G>A (p.Arg416His) single nucleotide variant not provided [RCV002618705] Chr22:50526054 [GRCh38]
Chr22:50964483 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.54C>T (p.Phe18=) single nucleotide variant not provided [RCV002843825] Chr22:50529656 [GRCh38]
Chr22:50968085 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.959C>G (p.Ala320Gly) single nucleotide variant Inborn genetic diseases [RCV002883444] Chr22:50526446 [GRCh38]
Chr22:50964875 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.766-1G>A single nucleotide variant not provided [RCV002967519] Chr22:50526739 [GRCh38]
Chr22:50965168 [GRCh37]
Chr22:22q13.33
likely pathogenic
NM_001953.5(TYMP):c.1160-6C>G single nucleotide variant not provided [RCV002618793] Chr22:50526147 [GRCh38]
Chr22:50964576 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1074A>C (p.Arg358=) single nucleotide variant not provided [RCV002970827] Chr22:50526331 [GRCh38]
Chr22:50964760 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1416C>A (p.Pro472=) single nucleotide variant not provided [RCV003012116] Chr22:50525803 [GRCh38]
Chr22:50964232 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.897_898del (p.Pro300fs) deletion not provided [RCV002816186] Chr22:50526606..50526607 [GRCh38]
Chr22:50965035..50965036 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.985C>A (p.Arg329=) single nucleotide variant not provided [RCV003013235] Chr22:50526420 [GRCh38]
Chr22:50964849 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.955C>T (p.His319Tyr) single nucleotide variant not provided [RCV002861599] Chr22:50526450 [GRCh38]
Chr22:50964879 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.517-8C>T single nucleotide variant not provided [RCV003032799] Chr22:50527725 [GRCh38]
Chr22:50966154 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.827C>T (p.Pro276Leu) single nucleotide variant Inborn genetic diseases [RCV003384327]|not provided [RCV003075870] Chr22:50526677 [GRCh38]
Chr22:50965106 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.647-12C>T single nucleotide variant not provided [RCV003076374] Chr22:50527295 [GRCh38]
Chr22:50965724 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.942C>T (p.Leu314=) single nucleotide variant not provided [RCV002819838] Chr22:50526463 [GRCh38]
Chr22:50964892 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1284T>C (p.Gly428=) single nucleotide variant not provided [RCV002615247] Chr22:50526017 [GRCh38]
Chr22:50964446 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1421C>T (p.Ala474Val) single nucleotide variant not provided [RCV002755602] Chr22:50525798 [GRCh38]
Chr22:50964227 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.646+13C>T single nucleotide variant not provided [RCV002785686] Chr22:50527575 [GRCh38]
Chr22:50966004 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1395G>C (p.Ala465=) single nucleotide variant not provided [RCV003021850] Chr22:50525824 [GRCh38]
Chr22:50964253 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.990G>T (p.Val330=) single nucleotide variant not provided [RCV002825414] Chr22:50526415 [GRCh38]
Chr22:50964844 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1160-5C>T single nucleotide variant not provided [RCV002800540] Chr22:50526146 [GRCh38]
Chr22:50964575 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.765+20C>G single nucleotide variant not provided [RCV002706671] Chr22:50527145 [GRCh38]
Chr22:50965574 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1428C>G (p.Leu476=) single nucleotide variant not provided [RCV002740347] Chr22:50525791 [GRCh38]
Chr22:50964220 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.717C>T (p.Ala239=) single nucleotide variant not provided [RCV002695200] Chr22:50527213 [GRCh38]
Chr22:50965642 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.789G>T (p.Gly263=) single nucleotide variant not provided [RCV002800375] Chr22:50526715 [GRCh38]
Chr22:50965144 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1270C>G (p.Leu424Val) single nucleotide variant not provided [RCV003038246] Chr22:50526031 [GRCh38]
Chr22:50964460 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1300+4A>G single nucleotide variant not provided [RCV002622850] Chr22:50525997 [GRCh38]
Chr22:50964426 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.975G>A (p.Gln325=) single nucleotide variant not provided [RCV003039223] Chr22:50526430 [GRCh38]
Chr22:50964859 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1347C>T (p.Gly449=) single nucleotide variant not provided [RCV002786013] Chr22:50525872 [GRCh38]
Chr22:50964301 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.961G>A (p.Gly321Arg) single nucleotide variant not provided [RCV002756947] Chr22:50526444 [GRCh38]
Chr22:50964873 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1159+2T>C single nucleotide variant not provided [RCV002591310] Chr22:50526244 [GRCh38]
Chr22:50964673 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.208_209del (p.Gln70fs) microsatellite not provided [RCV003035452] Chr22:50529501..50529502 [GRCh38]
Chr22:50967930..50967931 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.1385C>G (p.Ser462Cys) single nucleotide variant not provided [RCV002659473] Chr22:50525834 [GRCh38]
Chr22:50964263 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.774G>C (p.Val258=) single nucleotide variant not provided [RCV003054143] Chr22:50526730 [GRCh38]
Chr22:50965159 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1304C>T (p.Thr435Ile) single nucleotide variant not provided [RCV003080011] Chr22:50525915 [GRCh38]
Chr22:50964344 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1110_1111delinsTT (p.Gln370His) indel not provided [RCV002638287] Chr22:50526294..50526295 [GRCh38]
Chr22:50964723..50964724 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.438T>A (p.Arg146=) single nucleotide variant not provided [RCV003019897] Chr22:50528590 [GRCh38]
Chr22:50967019 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.788G>A (p.Gly263Glu) single nucleotide variant not provided [RCV002909216] Chr22:50526716 [GRCh38]
Chr22:50965145 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.672G>C (p.Val224=) single nucleotide variant not provided [RCV003017968] Chr22:50527258 [GRCh38]
Chr22:50965687 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.646+2T>C single nucleotide variant not provided [RCV002797039] Chr22:50527586 [GRCh38]
Chr22:50966015 [GRCh37]
Chr22:22q13.33
likely pathogenic
NM_001953.5(TYMP):c.1249C>G (p.Leu417Val) single nucleotide variant not provided [RCV002953316] Chr22:50526052 [GRCh38]
Chr22:50964481 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1381C>G (p.Leu461Val) single nucleotide variant not provided [RCV003052891] Chr22:50525838 [GRCh38]
Chr22:50964267 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.255G>A (p.Leu85=) single nucleotide variant not provided [RCV002621220] Chr22:50529298 [GRCh38]
Chr22:50967727 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1252G>A (p.Gly418Arg) single nucleotide variant not provided [RCV002592797] Chr22:50526049 [GRCh38]
Chr22:50964478 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.516+18T>C single nucleotide variant not provided [RCV003019099] Chr22:50528494 [GRCh38]
Chr22:50966923 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1301-19dup duplication not provided [RCV003052938] Chr22:50525936..50525937 [GRCh38]
Chr22:50964365..50964366 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.214+20C>T single nucleotide variant not provided [RCV002637887] Chr22:50529476 [GRCh38]
Chr22:50967905 [GRCh37]
Chr22:22q13.33
benign
NM_001953.5(TYMP):c.1288_1289del (p.Arg430fs) microsatellite not provided [RCV002948761] Chr22:50526012..50526013 [GRCh38]
Chr22:50964441..50964442 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.1399T>C (p.Phe467Leu) single nucleotide variant not provided [RCV002706177] Chr22:50525820 [GRCh38]
Chr22:50964249 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.822C>G (p.Asp274Glu) single nucleotide variant not provided [RCV002638440] Chr22:50526682 [GRCh38]
Chr22:50965111 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1160-8_1190del deletion not provided [RCV002796575] Chr22:50526111..50526149 [GRCh38]
Chr22:50964540..50964578 [GRCh37]
Chr22:22q13.33
likely pathogenic
NM_001953.5(TYMP):c.372G>A (p.Lys124=) single nucleotide variant not provided [RCV002886061] Chr22:50529181 [GRCh38]
Chr22:50967610 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1326G>A (p.Arg442=) single nucleotide variant not provided [RCV003077143] Chr22:50525893 [GRCh38]
Chr22:50964322 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.516+4C>A single nucleotide variant not provided [RCV003080273] Chr22:50528508 [GRCh38]
Chr22:50966937 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.920C>T (p.Thr307Ile) single nucleotide variant not provided [RCV002639807] Chr22:50526584 [GRCh38]
Chr22:50965013 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1085C>T (p.Ser362Leu) single nucleotide variant not provided [RCV003007635] Chr22:50526320 [GRCh38]
Chr22:50964749 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.325C>T (p.Arg109Cys) single nucleotide variant not provided [RCV002664001] Chr22:50529228 [GRCh38]
Chr22:50967657 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.506G>C (p.Ser169Thr) single nucleotide variant not provided [RCV002701409] Chr22:50528522 [GRCh38]
Chr22:50966951 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1329C>G (p.Asp443Glu) single nucleotide variant not provided [RCV002574342] Chr22:50525890 [GRCh38]
Chr22:50964319 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.588A>C (p.Gly196=) single nucleotide variant not provided [RCV002576342] Chr22:50527646 [GRCh38]
Chr22:50966075 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.231del (p.Ile78fs) deletion not provided [RCV002894338] Chr22:50529322 [GRCh38]
Chr22:50967751 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.766-13C>G single nucleotide variant not provided [RCV003082450] Chr22:50526751 [GRCh38]
Chr22:50965180 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.928+12G>T single nucleotide variant not provided [RCV002645679] Chr22:50526564 [GRCh38]
Chr22:50964993 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1195C>T (p.Leu399=) single nucleotide variant not provided [RCV003025307] Chr22:50526106 [GRCh38]
Chr22:50964535 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.52_53del (p.Phe18fs) deletion not provided [RCV002928908] Chr22:50529657..50529658 [GRCh38]
Chr22:50968086..50968087 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.1278C>T (p.Asp426=) single nucleotide variant not provided [RCV002985453] Chr22:50526023 [GRCh38]
Chr22:50964452 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1017C>A (p.Ala339=) single nucleotide variant not provided [RCV002594512] Chr22:50526388 [GRCh38]
Chr22:50964817 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.516+5G>A single nucleotide variant not provided [RCV002741903] Chr22:50528507 [GRCh38]
Chr22:50966936 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1159+12G>T single nucleotide variant not provided [RCV003082106] Chr22:50526234 [GRCh38]
Chr22:50964663 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1300+15C>T single nucleotide variant not provided [RCV002642260] Chr22:50525986 [GRCh38]
Chr22:50964415 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.759G>C (p.Lys253Asn) single nucleotide variant not provided [RCV002643361] Chr22:50527171 [GRCh38]
Chr22:50965600 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.721G>A (p.Val241Ile) single nucleotide variant not provided [RCV002643833] Chr22:50527209 [GRCh38]
Chr22:50965638 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1181C>T (p.Ala394Val) single nucleotide variant not provided [RCV002711063] Chr22:50526120 [GRCh38]
Chr22:50964549 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1134G>A (p.Gln378=) single nucleotide variant not provided [RCV003025638] Chr22:50526271 [GRCh38]
Chr22:50964700 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1076C>T (p.Ala359Val) single nucleotide variant not provided [RCV002982559] Chr22:50526329 [GRCh38]
Chr22:50964758 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.51C>T (p.Asp17=) single nucleotide variant not provided [RCV002574767] Chr22:50529659 [GRCh38]
Chr22:50968088 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.766-1G>C single nucleotide variant not provided [RCV002852455] Chr22:50526739 [GRCh38]
Chr22:50965168 [GRCh37]
Chr22:22q13.33
likely pathogenic
NM_001953.5(TYMP):c.1357dup (p.Arg453fs) duplication not provided [RCV003040048] Chr22:50525861..50525862 [GRCh38]
Chr22:50964290..50964291 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.801G>A (p.Ala267=) single nucleotide variant not provided [RCV002643240] Chr22:50526703 [GRCh38]
Chr22:50965132 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.26C>G (p.Thr9Ser) single nucleotide variant not provided [RCV003058521] Chr22:50529684 [GRCh38]
Chr22:50968113 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1185G>T (p.Leu395=) single nucleotide variant not provided [RCV002894706] Chr22:50526116 [GRCh38]
Chr22:50964545 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.581C>T (p.Ala194Val) single nucleotide variant not provided [RCV003084108] Chr22:50527653 [GRCh38]
Chr22:50966082 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.96G>A (p.Glu32=) single nucleotide variant not provided [RCV002711097] Chr22:50529614 [GRCh38]
Chr22:50968043 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.658A>G (p.Ser220Gly) single nucleotide variant not provided [RCV002745599] Chr22:50527272 [GRCh38]
Chr22:50965701 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.11TGA[1] (p.Met5del) microsatellite not provided [RCV003057478] Chr22:50529694..50529696 [GRCh38]
Chr22:50968123..50968125 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.719C>G (p.Ala240Gly) single nucleotide variant not provided [RCV002573707] Chr22:50527211 [GRCh38]
Chr22:50965640 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.516+1G>T single nucleotide variant not provided [RCV002830212] Chr22:50528511 [GRCh38]
Chr22:50966940 [GRCh37]
Chr22:22q13.33
likely pathogenic
NM_001953.5(TYMP):c.214+19G>C single nucleotide variant not provided [RCV002573670] Chr22:50529477 [GRCh38]
Chr22:50967906 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.333G>A (p.Gln111=) single nucleotide variant not provided [RCV002851839] Chr22:50529220 [GRCh38]
Chr22:50967649 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.998C>T (p.Ala333Val) single nucleotide variant not provided [RCV002852960] Chr22:50526407 [GRCh38]
Chr22:50964836 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.963G>C (p.Gly321=) single nucleotide variant not provided [RCV002899984] Chr22:50526442 [GRCh38]
Chr22:50964871 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1097C>T (p.Ala366Val) single nucleotide variant not provided [RCV003092058] Chr22:50526308 [GRCh38]
Chr22:50964737 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1066C>T (p.Leu356=) single nucleotide variant not provided [RCV002962866] Chr22:50526339 [GRCh38]
Chr22:50964768 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.778G>A (p.Ala260Thr) single nucleotide variant not provided [RCV002941929] Chr22:50526726 [GRCh38]
Chr22:50965155 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.516+11C>T single nucleotide variant not provided [RCV003086281] Chr22:50528501 [GRCh38]
Chr22:50966930 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.929-12C>T single nucleotide variant not provided [RCV002600802] Chr22:50526488 [GRCh38]
Chr22:50964917 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1051G>A (p.Gly351Ser) single nucleotide variant not provided [RCV003049465] Chr22:50526354 [GRCh38]
Chr22:50964783 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.213C>G (p.Ile71Met) single nucleotide variant not provided [RCV002942090] Chr22:50529497 [GRCh38]
Chr22:50967926 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.30G>C (p.Gly10=) single nucleotide variant not provided [RCV003066061] Chr22:50529680 [GRCh38]
Chr22:50968109 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1300+16G>A single nucleotide variant not provided [RCV003090191] Chr22:50525985 [GRCh38]
Chr22:50964414 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.151G>A (p.Glu51Lys) single nucleotide variant not provided [RCV003061448] Chr22:50529559 [GRCh38]
Chr22:50967988 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.220A>C (p.Met74Leu) single nucleotide variant Inborn genetic diseases [RCV002920677] Chr22:50529333 [GRCh38]
Chr22:50967762 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1098A>G (p.Ala366=) single nucleotide variant not provided [RCV002806930] Chr22:50526307 [GRCh38]
Chr22:50964736 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.417+15C>T single nucleotide variant not provided [RCV002632734] Chr22:50529121 [GRCh38]
Chr22:50967550 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1041G>A (p.Leu347=) single nucleotide variant not provided [RCV003049204] Chr22:50526364 [GRCh38]
Chr22:50964793 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.765+7G>C single nucleotide variant not provided [RCV002715871] Chr22:50527158 [GRCh38]
Chr22:50965587 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1438C>G (p.Pro480Ala) single nucleotide variant Inborn genetic diseases [RCV004066861]|not provided [RCV002676384] Chr22:50525781 [GRCh38]
Chr22:50964210 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.928+15del deletion not provided [RCV002716662] Chr22:50526561 [GRCh38]
Chr22:50964990 [GRCh37]
Chr22:22q13.33
benign
NM_001953.5(TYMP):c.1327G>A (p.Asp443Asn) single nucleotide variant not provided [RCV002647757] Chr22:50525892 [GRCh38]
Chr22:50964321 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1095C>T (p.Pro365=) single nucleotide variant not provided [RCV003046984] Chr22:50526310 [GRCh38]
Chr22:50964739 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.108C>T (p.Leu36=) single nucleotide variant not provided [RCV002962833] Chr22:50529602 [GRCh38]
Chr22:50968031 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1206C>T (p.His402=) single nucleotide variant not provided [RCV003009929] Chr22:50526095 [GRCh38]
Chr22:50964524 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.321C>T (p.Ala107=) single nucleotide variant not provided [RCV002576852] Chr22:50529232 [GRCh38]
Chr22:50967661 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1405G>T (p.Ala469Ser) single nucleotide variant not provided [RCV002649334] Chr22:50525814 [GRCh38]
Chr22:50964243 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1222C>T (p.Arg408Cys) single nucleotide variant not provided [RCV003009793] Chr22:50526079 [GRCh38]
Chr22:50964508 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1386C>A (p.Ser462=) single nucleotide variant not provided [RCV003061522] Chr22:50525833 [GRCh38]
Chr22:50964262 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.929-18A>T single nucleotide variant not provided [RCV002580793] Chr22:50526494 [GRCh38]
Chr22:50964923 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1017C>G (p.Ala339=) single nucleotide variant not provided [RCV002832962] Chr22:50526388 [GRCh38]
Chr22:50964817 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1160-15C>G single nucleotide variant not provided [RCV002631881] Chr22:50526156 [GRCh38]
Chr22:50964585 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.214+10G>T single nucleotide variant not provided [RCV002806941] Chr22:50529486 [GRCh38]
Chr22:50967915 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.118A>G (p.Ile40Val) single nucleotide variant Inborn genetic diseases [RCV002672509] Chr22:50529592 [GRCh38]
Chr22:50968021 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.120C>T (p.Ile40=) single nucleotide variant not provided [RCV002857577] Chr22:50529590 [GRCh38]
Chr22:50968019 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.542G>A (p.Gly181Asp) single nucleotide variant Inborn genetic diseases [RCV004070461]|not provided [RCV003063338] Chr22:50527692 [GRCh38]
Chr22:50966121 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.929-6C>T single nucleotide variant not provided [RCV003064189] Chr22:50526482 [GRCh38]
Chr22:50964911 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.956A>G (p.His319Arg) single nucleotide variant not provided [RCV002647723] Chr22:50526449 [GRCh38]
Chr22:50964878 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.516+14C>G single nucleotide variant not provided [RCV002647851] Chr22:50528498 [GRCh38]
Chr22:50966927 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.913C>T (p.Leu305=) single nucleotide variant not provided [RCV003046594] Chr22:50526591 [GRCh38]
Chr22:50965020 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.978C>A (p.Gly326=) single nucleotide variant not provided [RCV002834298] Chr22:50526427 [GRCh38]
Chr22:50964856 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.133_152del (p.Asp45fs) deletion not provided [RCV003009460] Chr22:50529558..50529577 [GRCh38]
Chr22:50967987..50968006 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.1255G>A (p.Val419Met) single nucleotide variant Inborn genetic diseases [RCV004069068]|not provided [RCV002632540] Chr22:50526046 [GRCh38]
Chr22:50964475 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.547T>C (p.Cys183Arg) single nucleotide variant Inborn genetic diseases [RCV002940286] Chr22:50527687 [GRCh38]
Chr22:50966116 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.428T>C (p.Ile143Thr) single nucleotide variant not provided [RCV003062023] Chr22:50528600 [GRCh38]
Chr22:50967029 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.215-17G>A single nucleotide variant not provided [RCV003088376] Chr22:50529355 [GRCh38]
Chr22:50967784 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.710G>C (p.Gly237Ala) single nucleotide variant not provided [RCV003092435] Chr22:50527220 [GRCh38]
Chr22:50965649 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.916G>A (p.Val306Ile) single nucleotide variant not provided [RCV003050943] Chr22:50526588 [GRCh38]
Chr22:50965017 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.669C>A (p.Leu223=) single nucleotide variant not provided [RCV002681058] Chr22:50527261 [GRCh38]
Chr22:50965690 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.387C>T (p.Leu129=) single nucleotide variant not provided [RCV002658333] Chr22:50529166 [GRCh38]
Chr22:50967595 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.136G>A (p.Gly46Arg) single nucleotide variant not provided [RCV003093053] Chr22:50529574 [GRCh38]
Chr22:50968003 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1159+16G>A single nucleotide variant not provided [RCV003051478] Chr22:50526230 [GRCh38]
Chr22:50964659 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.991G>A (p.Ala331Thr) single nucleotide variant not provided [RCV003093382] Chr22:50526414 [GRCh38]
Chr22:50964843 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1040T>C (p.Leu347Pro) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV003147815]|not provided [RCV003050585] Chr22:50526365 [GRCh38]
Chr22:50964794 [GRCh37]
Chr22:22q13.33
pathogenic|likely pathogenic
NM_001953.5(TYMP):c.648C>T (p.Ala216=) single nucleotide variant not provided [RCV003068846] Chr22:50527282 [GRCh38]
Chr22:50965711 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1160-16G>A single nucleotide variant not provided [RCV002654967] Chr22:50526157 [GRCh38]
Chr22:50964586 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.838T>C (p.Cys280Arg) single nucleotide variant not provided [RCV003050953] Chr22:50526666 [GRCh38]
Chr22:50965095 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1241C>A (p.Pro414Gln) single nucleotide variant not provided [RCV003052731] Chr22:50526060 [GRCh38]
Chr22:50964489 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.929-15C>G single nucleotide variant not provided [RCV003092434] Chr22:50526491 [GRCh38]
Chr22:50964920 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.924G>T (p.Thr308=) single nucleotide variant not provided [RCV002634635] Chr22:50526580 [GRCh38]
Chr22:50965009 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1160-8C>G single nucleotide variant not provided [RCV002636016] Chr22:50526149 [GRCh38]
Chr22:50964578 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1327G>C (p.Asp443His) single nucleotide variant not provided [RCV003067754] Chr22:50525892 [GRCh38]
Chr22:50964321 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1207G>A (p.Glu403Lys) single nucleotide variant not provided [RCV002654876] Chr22:50526094 [GRCh38]
Chr22:50964523 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.929-4G>A single nucleotide variant not provided [RCV002586875] Chr22:50526480 [GRCh38]
Chr22:50964909 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.389C>T (p.Ala130Val) single nucleotide variant not provided [RCV003072020] Chr22:50529164 [GRCh38]
Chr22:50967593 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.693G>A (p.Val231=) single nucleotide variant not provided [RCV002653297] Chr22:50527237 [GRCh38]
Chr22:50965666 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.692T>C (p.Val231Ala) single nucleotide variant not provided [RCV003052082] Chr22:50527238 [GRCh38]
Chr22:50965667 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.459C>A (p.Gly153=) single nucleotide variant not provided [RCV002586358] Chr22:50528569 [GRCh38]
Chr22:50966998 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.794G>C (p.Arg265Pro) single nucleotide variant not provided [RCV003072355] Chr22:50526710 [GRCh38]
Chr22:50965139 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1246C>T (p.Arg416Cys) single nucleotide variant not provided [RCV002607433] Chr22:50526055 [GRCh38]
Chr22:50964484 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.647-16T>C single nucleotide variant not provided [RCV002588604] Chr22:50527299 [GRCh38]
Chr22:50965728 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.841G>A (p.Val281Met) single nucleotide variant not provided [RCV002613301] Chr22:50526663 [GRCh38]
Chr22:50965092 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.195C>A (p.Ser65Arg) single nucleotide variant not provided [RCV002607613] Chr22:50529515 [GRCh38]
Chr22:50967944 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.765+15C>T single nucleotide variant not provided [RCV003071815] Chr22:50527150 [GRCh38]
Chr22:50965579 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1047G>A (p.Ala349=) single nucleotide variant not provided [RCV002725525] Chr22:50526358 [GRCh38]
Chr22:50964787 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.572T>C (p.Leu191Pro) single nucleotide variant not provided [RCV002815091] Chr22:50527662 [GRCh38]
Chr22:50966091 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.246C>T (p.Gly82=) single nucleotide variant not provided [RCV003067222] Chr22:50529307 [GRCh38]
Chr22:50967736 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.215-17G>C single nucleotide variant not provided [RCV002633155] Chr22:50529355 [GRCh38]
Chr22:50967784 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.38C>T (p.Pro13Leu) single nucleotide variant not provided [RCV002721365] Chr22:50529672 [GRCh38]
Chr22:50968101 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.1063G>A (p.Gly355Ser) single nucleotide variant not provided [RCV004790897] Chr22:50526342 [GRCh38]
Chr22:50964771 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.767T>C (p.Val256Ala) single nucleotide variant not provided [RCV003319624] Chr22:50526737 [GRCh38]
Chr22:50965166 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.472C>T (p.Leu158=) single nucleotide variant not provided [RCV003872663] Chr22:50528556 [GRCh38]
Chr22:50966985 [GRCh37]
Chr22:22q13.33
likely benign
GRCh38/hg38 22q13.33(chr22:49757859-50740457)x1 copy number loss Phelan-McDermid syndrome [RCV003327722] Chr22:49757859..50740457 [GRCh38]
Chr22:22q13.33
pathogenic
GRCh37/hg19 22q13.33(chr22:50014114-51244066)x1 copy number loss Chromosome 22q13 duplication syndrome [RCV003329540] Chr22:50014114..51244066 [GRCh37]
Chr22:22q13.33
pathogenic
NM_001953.5(TYMP):c.859G>C (p.Val287Leu) single nucleotide variant Inborn genetic diseases [RCV003359870] Chr22:50526645 [GRCh38]
Chr22:50965074 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_001953.5(TYMP):c.417+2T>G single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV003464760] Chr22:50529134 [GRCh38]
Chr22:50967563 [GRCh37]
Chr22:22q13.33
likely pathogenic
NM_001953.5(TYMP):c.1272G>A (p.Leu424=) single nucleotide variant not provided [RCV003711263] Chr22:50526029 [GRCh38]
Chr22:50964458 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.999G>A (p.Ala333=) single nucleotide variant not provided [RCV003875322] Chr22:50526406 [GRCh38]
Chr22:50964835 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1281G>C (p.Val427=) single nucleotide variant not provided [RCV003715778] Chr22:50526020 [GRCh38]
Chr22:50964449 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1437G>T (p.Pro479=) single nucleotide variant not provided [RCV003660699] Chr22:50525782 [GRCh38]
Chr22:50964211 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1116G>A (p.Leu372=) single nucleotide variant not provided [RCV003730023] Chr22:50526289 [GRCh38]
Chr22:50964718 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.813C>T (p.Thr271=) single nucleotide variant not provided [RCV003570818] Chr22:50526691 [GRCh38]
Chr22:50965120 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.963G>T (p.Gly321=) single nucleotide variant not provided [RCV003732614] Chr22:50526442 [GRCh38]
Chr22:50964871 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1301-12C>G single nucleotide variant not provided [RCV003733260] Chr22:50525930 [GRCh38]
Chr22:50964359 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1329C>T (p.Asp443=) single nucleotide variant not provided [RCV003733678] Chr22:50525890 [GRCh38]
Chr22:50964319 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1159+12G>C single nucleotide variant not provided [RCV003738956] Chr22:50526234 [GRCh38]
Chr22:50964663 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1014G>A (p.Ser338=) single nucleotide variant not provided [RCV003739387] Chr22:50526391 [GRCh38]
Chr22:50964820 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1167G>A (p.Val389=) single nucleotide variant not provided [RCV003684023] Chr22:50526134 [GRCh38]
Chr22:50964563 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1160-11T>A single nucleotide variant not provided [RCV003719119] Chr22:50526152 [GRCh38]
Chr22:50964581 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1159+14G>A single nucleotide variant not provided [RCV003735590] Chr22:50526232 [GRCh38]
Chr22:50964661 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1425G>A (p.Glu475=) single nucleotide variant not provided [RCV003663220] Chr22:50525794 [GRCh38]
Chr22:50964223 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1160-6C>T single nucleotide variant not provided [RCV003684808] Chr22:50526147 [GRCh38]
Chr22:50964576 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1249C>T (p.Leu417=) single nucleotide variant not provided [RCV003687020] Chr22:50526052 [GRCh38]
Chr22:50964481 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1077C>A (p.Ala359=) single nucleotide variant TYMP-related disorder [RCV004753702]|not provided [RCV003679413] Chr22:50526328 [GRCh38]
Chr22:50964757 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1212C>G (p.Leu404=) single nucleotide variant not provided [RCV003690174] Chr22:50526089 [GRCh38]
Chr22:50964518 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1191G>A (p.Leu397=) single nucleotide variant not provided [RCV003690809] Chr22:50526110 [GRCh38]
Chr22:50964539 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1300+8C>A single nucleotide variant not provided [RCV003695527] Chr22:50525993 [GRCh38]
Chr22:50964422 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1011C>A (p.Gly337=) single nucleotide variant not provided [RCV003721295] Chr22:50526394 [GRCh38]
Chr22:50964823 [GRCh37]
Chr22:22q13.33
likely benign
NM_001953.5(TYMP):c.1078del (p.Leu360fs)